CR2Cancer

Summary
Symbol	TET2
Name	tet methylcytosine dioxygenase 2
Aliases	FLJ20032; KIAA1546; tet oncogene family member 2; probable methylcytosine dioxygenase TET2; Methylcytosine d ......
Location	4q24
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Domain, Function and Classification > Gene Ontology > KEGG and Reactome Pathway

> Domain, Function and Classification

[ TOP ]

Domain

PF12851 Oxygenase domain of the 2OGFeDO superfamily

Function

Dioxygenase that catalyzes the conversion of the modified genomic base 5-methylcytosine (5mC) into 5-hydroxymethylcytosine (5hmC) and plays a key role in active DNA demethylation. Has a preference for 5-hydroxymethylcytosine in CpG motifs. Also mediates subsequent conversion of 5hmC into 5-formylcytosine (5fC), and conversion of 5fC to 5-carboxylcytosine (5caC). Conversion of 5mC into 5hmC, 5fC and 5caC probably constitutes the first step in cytosine demethylation. Methylation at the C5 position of cytosine bases is an epigenetic modification of the mammalian genome which plays an important role in transcriptional regulation. In addition to its role in DNA demethylation, also involved in the recruitment of the O-GlcNAc transferase OGT to CpG-rich transcription start sites of active genes, thereby promoting histone H2B GlcNAcylation by OGT.

Classification

Class	Modification	Substrate	Product	PubMed
DNA modification	DNA hydroxymethylation	mC	hmC	23222540

> Gene Ontology [ TOP ]
Biological Process	GO:0001655 urogenital system development GO:0001822 kidney development GO:0001889 liver development GO:0002244 hematopoietic progenitor cell differentiation GO:0002318 myeloid progenitor cell differentiation GO:0006206 pyrimidine nucleobase metabolic process GO:0006211 5-methylcytosine catabolic process GO:0006304 DNA modification GO:0006479 protein methylation GO:0006486 protein glycosylation GO:0006493 protein O-linked glycosylation GO:0008213 protein alkylation GO:0009100 glycoprotein metabolic process GO:0009101 glycoprotein biosynthetic process GO:0009112 nucleobase metabolic process GO:0009791 post-embryonic development GO:0016570 histone modification GO:0016571 histone methylation GO:0018022 peptidyl-lysine methylation GO:0018023 peptidyl-lysine trimethylation GO:0018205 peptidyl-lysine modification GO:0019857 5-methylcytosine metabolic process GO:0019858 cytosine metabolic process GO:0020027 hemoglobin metabolic process GO:0022612 gland morphogenesis GO:0030099 myeloid cell differentiation GO:0032259 methylation GO:0034968 histone lysine methylation GO:0035510 DNA dealkylation GO:0043413 macromolecule glycosylation GO:0043414 macromolecule methylation GO:0044270 cellular nitrogen compound catabolic process GO:0044728 DNA methylation or demethylation GO:0046700 heterocycle catabolic process GO:0048536 spleen development GO:0048732 gland development GO:0048872 homeostasis of number of cells GO:0051568 histone H3-K4 methylation GO:0061008 hepaticobiliary system development GO:0061484 hematopoietic stem cell homeostasis GO:0070085 glycosylation GO:0070988 demethylation GO:0070989 oxidative demethylation GO:0072001 renal system development GO:0072527 pyrimidine-containing compound metabolic process GO:0072529 pyrimidine-containing compound catabolic process GO:0072576 liver morphogenesis GO:0080111 DNA demethylation GO:0080182 histone H3-K4 trimethylation GO:1901361 organic cyclic compound catabolic process GO:1901565 organonitrogen compound catabolic process
Molecular Function	GO:0005506 iron ion binding GO:0008198 ferrous iron binding GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016706 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors GO:0051213 dioxygenase activity GO:0070579 methylcytosine dioxygenase activity
Cellular Component	-

> KEGG and Reactome Pathway [ TOP ]
KEGG	-
Reactome	R-HSA-212165: Epigenetic regulation of gene expression R-HSA-74160: Gene Expression R-HSA-5221030: TET1,2,3 and TDG demethylate DNA

Summary
Symbol	TET2
Name	tet methylcytosine dioxygenase 2
Aliases	FLJ20032; KIAA1546; tet oncogene family member 2; probable methylcytosine dioxygenase TET2; Methylcytosine d ......
Location	4q24
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Mutation landscape in primary tumor tissue from TCGA > Mutation landscape in cancer cell line from CCLE > All mutations from COSMIC database V81 > Variations from text mining

> The Cancer Genome Atlas (TCGA) [ TOP ]

> Cancer Cell Line Encyclopedia (CCLE) [ TOP ]

> Catalogue of Somatic Mutations in Cancer (COSMIC)

[ TOP ]

COSMIC ID	CDS change	AA change	Mutation Type	Anatomical Site
COSM4584704	c.2104C>T	p.H702Y	Substitution - Missense	Bone
COSM5610844	c.1489A>G	p.T497A	Substitution - Missense	Skin
COSM5878932	c.773_774insT	p.E259fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5800659	c.1652A>T	p.D551V	Substitution - Missense	Breast
COSM5415907	c.?	p.R1404*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43429	c.3778_3778delA	p.N1260fs*6	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM176786	c.1422G>A	p.P474P	Substitution - coding silent	Large_intestine
COSM211744	c.5122_5122delA	p.S1708fs*11	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM219042	c.1285G>A	p.G429R	Substitution - Missense	Thymus
COSM211755	c.318_331del14	p.L107fs*8	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1724995	c.4541delT	p.L1515fs*56	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4385606	c.4760_4761insT	p.I1588fs*26	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5879018	c.3726_3727insA	p.L1244fs*24	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM53114	c.?	p.Q1529*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43117	c.1_6009del6009	p.0?	Whole gene deletion	Haematopoietic_and_lymphoid_tissue
COSM4385573	c.1742_1743insA	p.N582fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42057	c.3803+1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1168032	c.1673_1674delAC	p.H558fs*8	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41736	c.1526C>G	p.S509*	Substitution - Nonsense	Urinary_tract
COSM1017131	c.3555_3555delA	p.E1186fs*40	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211715	c.3621G>T	p.E1207D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43458	c.3048_3048delT	p.C1016fs*17	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4992077	c.538C>T	p.Q180*	Substitution - Nonsense	Skin
COSM211618	c.3287_3288delCA	p.T1096fs*7	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383809	c.1480G>A	p.G494R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5879045	c.5250_5251insTTTT	p.Y1751fs*3	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41738	c.922G>A	p.A308T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1735762	c.2737C>T	p.Q913*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM87153	c.4097G>A	p.R1366H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43412	c.?_?del?	p.?fs	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383756	c.373delT	p.F125fs*3	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87190	c.5696T>C	p.L1899P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41894	c.?	p.P1962L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM42008	c.3895A>G	p.K1299E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1049756	c.2546C>T	p.T849I	Substitution - Missense	Endometrium
COSM43408	c.4576_4576delC	p.Q1526fs*45	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1716876	c.3305_3312delATAATTTT	p.N1103fs*24	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383788	c.1249C>T	p.Q417*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383887	c.3154A>T	p.K1052*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1716772	c.?	p.Q916*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM41896	c.?	p.Q417*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41846	c.?	p.R544*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4613616	c.3347_3348insA	p.N1118fs*12	Insertion - Frameshift	Large_intestine
COSM43120	c.?	p.0?	Whole gene deletion	Haematopoietic_and_lymphoid_tissue
COSM211640	c.5751G>A	p.W1917*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM53045	c.?	p.L1360Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4596110	c.4150G>A	p.D1384N	Substitution - Missense	Upper_aerodigestive_tract
COSM4383801	c.1300C>T	p.H434Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43473	c.4183-1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4383903	c.3379delC	p.Q1127fs*10	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211751	c.5711A>G	p.H1904R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41649	c.4075C>T	p.R1359C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4167248	c.?	p.F868L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4534532	c.2097G>A	p.L699L	Substitution - coding silent	Skin
COSM4774862	c.2293A>G	p.S765G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878937	c.1113delA	p.K372fs*5	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3738488	c.?	p.K1299fs*1	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5031010	c.3594+1_3594+4delGTAA	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM41644	c.1648C>T	p.R550*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4491726	c.3857C>G	p.S1286C	Substitution - Missense	Skin
COSM43417	c.2746C>T	p.Q916*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43417	c.2746C>T	p.Q916*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383924	c.3868T>C	p.S1290P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41739	c.3904A>G	p.R1302G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5030554	c.4149A>C	p.R1383S	Substitution - Missense	Bone
COSM211614	c.2710C>T	p.Q904*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4170128	c.4556_4557insACCA	p.V1521fs*58	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM2270963	c.3852_3854delCTT	p.F1285del	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM43437	c.822_822delC	p.N275fs*18	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43518	c.5540G>A	p.W1847*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41850	c.1630C>T	p.R544*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1235472	c.5167C>T	p.P1723S	Substitution - Missense	Skin
COSM4383839	c.2272C>T	p.Q758*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5944235	c.4073_4077delGCCGT	p.C1358fs*41	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42031	c.4893T>G	p.Y1631*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM87099	c.2236C>T	p.Q746*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1169690	c.?	p.N1156I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4172351	c.5578delG	p.G1861fs*26	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4166527	c.?	p.Q626*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1685380	c.5897G>A	p.R1966H	Substitution - Missense	Small_intestine
COSM4992081	c.1633G>A	p.D545N	Substitution - Missense	Skin
COSM3598854	c.1223C>T	p.P408L	Substitution - Missense	Skin
COSM1685378	c.4889C>A	p.S1630*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5561648	c.4584C>A	p.P1528P	Substitution - coding silent	Prostate
COSM41707	c.4676_4677insA	p.Y1560fs*18	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4167266	c.?	p.E1279G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2952743	c.1796A>G	p.Q599R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383911	c.3631T>C	p.C1211R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM42015	c.5647_5647delA	p.T1883fs*4	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM120175	c.3680T>A	p.V1227E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41741	c.5618T>C	p.I1873T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43518	c.5540G>A	p.W1847*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM53272	c.3341_3342insA	p.P1115fs*15	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM144546	c.2818_2818delA	p.T940fs*13	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41850	c.1630C>T	p.R544*	Substitution - Nonsense	Skin
COSM4170168	c.3821_3822delAG	p.Q1274fs*25	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5944284	c.3259_3260delTC	p.S1087fs*16	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42053	c.2101C>T	p.Q701*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM41709	c.4317_4318insA	p.R1440fs*38	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5989924	c.3505G>A	p.G1169R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4766088	c.5348_5348delA	p.N1784fs*36	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383797	c.1262delA	p.G422fs*5	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5487395	c.5393C>A	p.S1798*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1618223	c.1241A>T	p.Q414L	Substitution - Missense	Liver
COSM5945063	c.4535C>T	p.A1512V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41649	c.4075C>T	p.R1359C	Substitution - Missense	Cervix
COSM41899	c.?	p.S1848*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM96484	c.3430G>A	p.E1144K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM96485	c.651_651delC	p.V218fs*32	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211736	c.4636C>T	p.Q1546*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211684	c.1876C>T	p.Q626*	Substitution - Nonsense	Soft_tissue
COSM1716784	c.3501-1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4170127	c.2474delC	p.S825fs*1	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383871	c.2794delG	p.D932fs*21	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41644	c.1648C>T	p.R550*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5762955	c.2082_2083insA	p.M695fs*17	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5010453	c.4851_4851delT	p.Y1618fs*5	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM2952771	c.2474C>A	p.S825*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5708965	c.3876C>G	p.S1292R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM110780	c.3862G>A	p.G1288S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87069	c.322C>T	p.Q108*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1716168	c.1512A>T	p.K504N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383833	c.2153delT	p.L719fs*32	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211674	c.1793_1793delA	p.N598fs*3	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM53156	c.?	p.R1261G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM132895	c.967C>T	p.Q323*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41899	c.?	p.S1848*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1318614	c.4264_4265insTA	p.K1422fs*27	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4766107	c.3251_3251delA	p.T1085fs*21	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4167277	c.?	p.K1500N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43413	c.?_?ins?	p.?fs	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42005	c.3954+2T>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM87126	c.3656A>G	p.H1219R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1169680	c.?	p.P1619fs*4	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5944488	c.789_790insC	p.I264fs*18	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42018	c.3501-1G>T	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM110761	c.2896_2897insTG	p.Q966fs*42	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383857	c.2509delA	p.N837fs*4	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM144509	c.5752G>T	p.E1918*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1169688	c.?	p.E852*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383758	c.397delC	p.P133fs*12	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM46414	c.1903C>T	p.Q635*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1716784	c.3501-1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1753466	c.2125G>A	p.E709K	Substitution - Missense	Urinary_tract
COSM4766104	c.1411_1412insA	p.S471fs*8	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5985549	c.2529delG	p.N844fs*29	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4167257	c.?	p.L1101I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43417	c.2746C>T	p.Q916*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM53164	c.?	p.Q1687*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4441243	c.2291A>G	p.Q764R	Substitution - Missense	Large_intestine
COSM4653755	c.3641G>A	p.R1214Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1235473	c.3609C>G	p.S1203R	Substitution - Missense	Upper_aerodigestive_tract
COSM120169	c.3443_3443delA	p.Y1148fs*4	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3720306	c.2554G>T	p.E852*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4167239	c.?	p.V238F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87136	c.3866G>A	p.C1289Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM132898	c.5038C>T	p.Q1680*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1618225	c.4618C>A	p.Q1540K	Substitution - Missense	Liver
COSM4170148	c.1836_1837insG	p.L615fs*23	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383974	c.5704T>C	p.Y1902H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM87141	c.3954+1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1685374	c.3491T>G	p.M1164R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87150	c.4082G>A	p.G1361D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5879009	c.3409+1G>C	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5579707	c.2804G>A	p.G935E	Substitution - Missense	Skin
COSM43409	c.?	p.?fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43417	c.2746C>T	p.Q916*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1235473	c.3609C>G	p.S1203R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41733	c.3500G>C	p.R1167T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM211629	c.5219T>A	p.L1740*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1737889	c.3275_3275delC	p.P1092fs*14	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5945660	c.3812_3813insGTCCC	p.C1271fs*94	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43447	c.4589_4599del11	p.L1531fs*43	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM120171	c.2001_2001delT	p.L668fs*32	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41706	c.4354C>T	p.R1452*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3993385	c.946T>A	p.F316I	Substitution - Missense	Kidney
COSM4170102	c.3412_3413insAAAT	p.I1140fs*3	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4766124	c.4160A>G	p.N1387S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3738468	c.?	p.V1864E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM211757	c.2586_2587insG	p.H863fs*9	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1716596	c.1691G>A	p.W564*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM392604	c.3058_3059insA	p.Q1021fs*6	Insertion - Frameshift	Lung
COSM144516	c.1842_1843insG	p.L615fs*23	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1426222	c.5838_5839insA	p.V1949fs*7	Insertion - Frameshift	Large_intestine
COSM4383928	c.3937delG	p.D1314fs*49	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM53112	c.?	p.D1844G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4170135	c.4928delC	p.P1644fs*51	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1716773	c.1912A>G	p.M638V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4766108	c.3954+2T>C	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM43506	c.3523A>G	p.I1175V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87161	c.4138C>T	p.H1380Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM211737	c.4668_4669insT	p.V1557fs*21	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5879012	c.3444T>G	p.Y1148*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM2270967	c.3692T>C	p.L1231P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5879013	c.3532delG	p.E1178fs*48	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43409	c.?	p.?fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4166528	c.?	p.Q966fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1169690	c.?	p.N1156I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM211703	c.3337_3337delG	p.D1113fs*4	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5944290	c.4257delT	p.L1420fs*28	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1168021	c.5250_5254delCTATA	p.D1750fs*4	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4167251	c.?	p.Q897*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1738134	c.?	p.H169fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5967276	c.2792_2793insA	p.D932fs*1	Insertion - Frameshift	Salivary_gland
COSM87120	c.3528_3528delG	p.I1177fs*49	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87073	c.590_591insC	p.V198fs*4	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383778	c.1059T>A	p.C353*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5985195	c.4757C>G	p.S1586*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4383972	c.5651C>T	p.T1884I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53059	c.?	p.Q764fs*7	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM166838	c.5666C>T	p.P1889L	Substitution - Missense	Skin
COSM53128	c.?	p.D905fs*16	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3598850	c.717C>T	p.S239S	Substitution - coding silent	Skin
COSM41739	c.3904A>G	p.R1302G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4172026	c.?	p.E1323*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211664	c.2161_2162delCA	p.H721fs*1	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4170099	c.2285_2286insC	p.Q764fs*5	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1015786	c.73T>C	p.C25R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM42076	c.5554C>T	p.Q1852*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383958	c.4816delG	p.G1606fs*4	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41163	c.4010_4025del16	p.Y1337fs*21	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3738496	c.?	p.S393fs*34	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41999	c.2490_2491insA	p.Q831fs*15	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5990079	c.3951delA	p.E1318fs*45	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4767351	c.5119_5125delAGCAGTT	p.S1707fs*10	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41909	c.4072T>G	p.C1358G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4170160	c.932delT	p.L311fs*36	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5610835	c.911C>T	p.A304V	Substitution - Missense	Skin
COSM42020	c.4870C>T	p.Q1624*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1737888	c.3857_3858insTC	p.F1287fs*77	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5974954	c.1187C>G	p.T396S	Substitution - Missense	Upper_aerodigestive_tract
COSM41881	c.?	p.F1285del	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM43415	c.?	p.?	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM42078	c.4076G>C	p.R1359P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM42024	c.2407C>T	p.Q803*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41735	c.4099C>T	p.P1367S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43517	c.4266_4266delA	p.V1423fs*25	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3738499	c.?	p.Q904*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5351711	c.3609C>A	p.S1203R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383960	c.4862delT	p.L1622fs*1	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4170099	c.2285_2286insC	p.Q764fs*5	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211619	c.3619G>T	p.E1207*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1049750	c.1649G>A	p.R550Q	Substitution - Missense	Endometrium
COSM4170112	c.1802delC	p.S602fs*37	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383906	c.3535A>G	p.R1179G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41900	c.?	p.C1271*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43504	c.2290_2291insC	p.Q764fs*5	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5762955	c.2082_2083insA	p.M695fs*17	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383825	c.1815delC	p.Y605fs*1	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1738042	c.?	p.Q1680*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211704	c.3379C>T	p.Q1127*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211735	c.4600C>T	p.Q1534*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5945661	c.78G>T	p.Q26H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5945072	c.5620G>A	p.E1874K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5989596	c.4284_4285insT	p.G1430fs*48	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42040	c.4240C>T	p.Q1414*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1049744	c.824A>G	p.N275S	Substitution - Missense	Endometrium
COSM1169608	c.?	p.Y61fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41741	c.5618T>C	p.I1873T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43420	c.4546C>T	p.R1516*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM85917	c.2227C>T	p.Q743*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM166837	c.5602C>T	p.H1868Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5967239	c.?	p.Q659*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1716768	c.?	p.A1512fs*58	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87114	c.2982_2983ins19	p.T995fs*20	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41685	c.5738G>A	p.G1913D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41892	c.2477_2477delG	p.S826fs*15	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43412	c.?_?del?	p.?fs	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1685377	c.4474G>A	p.E1492K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41742	c.5152G>T	p.V1718L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM211731	c.4133G>A	p.C1378Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4170033	c.3892T>G	p.C1298G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87107	c.2604T>G	p.F868L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41706	c.4354C>T	p.R1452*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM166305	c.2576_2577insAGAC	p.Q860fs*13	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1328000	c.2195C>A	p.P732Q	Substitution - Missense	Ovary
COSM85922	c.?_?insT	p.?fs*?	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM100055	c.4256C>G	p.P1419R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43502	c.2671C>T	p.Q891*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM110750	c.4279G>T	p.D1427Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1426219	c.4352G>A	p.R1451Q	Substitution - Missense	Kidney
COSM43446	c.2428C>T	p.Q810*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41214	c.4062delA	p.A1355fs*8	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41741	c.5618T>C	p.I1873T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41899	c.?	p.S1848*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43480	c.3508_3508delC	p.Q1170fs*56	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM85920	c.4447G>T	p.E1483*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4167267	c.?	p.F1287L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43413	c.?_?ins?	p.?fs	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41880	c.?	p.R1896S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2270963	c.3852_3854delCTT	p.F1285del	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM5751405	c.2453_2454insT	p.Y819fs*2	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42016	c.4393C>T	p.R1465*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383883	c.3010delA	p.K1005fs*2	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4437346	c.2141C>A	p.S714*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3738519	c.?	p.K655fs*45	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1716788	c.?	p.R1359P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41741	c.5618T>C	p.I1873T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2270971	c.323A>T	p.Q108L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1724980	c.2196_2197insT	p.S733fs*21	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383923	c.3863G>A	p.G1288D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383956	c.4790_4791delTC	p.F1597fs*16	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5945028	c.2381C>G	p.S794*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5945047	c.3791C>T	p.A1264V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5989773	c.4865T>A	p.L1622*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM41709	c.4317_4318insA	p.R1440fs*38	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM307761	c.?	p.L1151P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM42009	c.4680_4681insA	p.S1561fs*17	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42047	c.1954C>T	p.Q652*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41736	c.1526C>G	p.S509*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4170134	c.3197delC	p.T1066fs*16	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5139772	c.2084_2087delTGTC	p.M695fs*4	Deletion - Frameshift	Large_intestine
COSM5944240	c.2247_2251delAATAA	p.I750fs*2	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM120167	c.2362G>T	p.E788*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5631542	c.3183delA	p.V1062fs*4	Deletion - Frameshift	Oesophagus
COSM41742	c.5152G>T	p.V1718L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383899	c.3315_3316delAG	p.E1106fs*23	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211686	c.2048_2082del35	p.F683fs*17	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3719258	c.3866delG	p.C1289fs*74	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5879036	c.4396C>T	p.Q1466*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5886367	c.5149C>T	p.H1717Y	Substitution - Missense	Skin
COSM53052	c.?	p.D1384H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43409	c.?	p.?fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4169523	c.?	p.E1320A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM329085	c.4513G>A	p.A1505T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4170125	c.2421delG	p.E808fs*5	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4166531	c.?	p.A1272fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM221609	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2952743	c.1796A>G	p.Q599R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383895	c.3263C>A	p.S1088*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1228971	c.5506G>A	p.V1836M	Substitution - Missense	Large_intestine
COSM41741	c.5618T>C	p.I1873T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM100067	c.783_783delC	p.C262fs*31	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM144515	c.4615C>T	p.Q1539*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5944517	c.4258_4259insTA	p.K1422fs*27	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41901	c.?	p.R1216*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1716804	c.?	p.Q1852*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM41992	c.3138_3138delT	p.T1047fs*8	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM53055	c.?	p.S356fs*18	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41709	c.4317_4318insA	p.R1440fs*38	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41644	c.1648C>T	p.R550*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41644	c.1648C>T	p.R550*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4167246	c.?	p.R815I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM88810	c.?	p.V1157fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM85918	c.3823G>A	p.G1275R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716788	c.?	p.R1359P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2270974	c.3442T>C	p.Y1148H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM110757	c.2025_2026insA	p.L676fs*5	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41850	c.1630C>T	p.R544*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3735044	c.3940_3940delG	p.D1314fs*49	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4766122	c.3927T>G	p.F1309L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87131	c.3787T>C	p.C1263R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5989727	c.4031C>A	p.A1344E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4767352	c.2250_2253delAAAG	p.K751fs*61	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1013210	c.1717C>T	p.H573Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM97191	c.4893T>A	p.Y1631*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4385608	c.5108_5109insG	p.D1704fs*9	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4766100	c.5245_5246insA	p.M1749fs*4	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5990055	c.1858_1859insA	p.Y620fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4167279	c.?	p.Q1680R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM42001	c.4999_5014del16	p.L1667fs*23	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM41644	c.1648C>T	p.R550*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1049749	c.1632A>G	p.R544R	Substitution - coding silent	Endometrium
COSM42028	c.3640C>T	p.R1214W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944523	c.5604_5605insG	p.S1870fs*5	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1168020	c.3182_3182delC	p.P1061fs*5	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1017683	c.695A>G	p.Q232R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1318632	c.822delC	p.N275fs*18	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM53247	c.1379C>T	p.S460F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878953	c.1606delA	p.E537fs*5	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM233565	c.275G>A	p.G92E	Substitution - Missense	Skin
COSM1228962	c.803C>T	p.S268L	Substitution - Missense	Large_intestine
COSM4383788	c.1249C>T	p.Q417*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41709	c.4317_4318insA	p.R1440fs*38	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1716805	c.?	p.T1726fs*20	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3738471	c.?	p.R1366L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM42027	c.3340_3341insA	p.T1114fs*16	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87117	c.3409+1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM307761	c.?	p.L1151P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1169693	c.?	p.V1454fs*4	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5944256	c.1214_1217delTTCT	p.S407fs*19	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4996392	c.4773C>A	p.S1591R	Substitution - Missense	Upper_aerodigestive_tract
COSM43426	c.4977T>G	p.Y1659*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41884	c.?	p.C1875R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43423	c.942_945delTTCC	p.S315fs*31	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM85917	c.2227C>T	p.Q743*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211624	c.4392C>A	p.C1464*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM42029	c.3646C>T	p.R1216*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4415179	c.3117G>A	p.S1039S	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM5879013	c.3532delG	p.E1178fs*48	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4167272	c.?	p.S1431I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52015	c.?	p.?	Whole gene deletion	Haematopoietic_and_lymphoid_tissue
COSM42057	c.3803+1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1737964	c.3765C>G	p.Y1255*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4166536	c.?	p.Q769fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383771	c.944delC	p.Q317fs*30	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM53061	c.?	p.Q960fs*50	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87101	c.2441_2441delG	p.R814fs*10	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM51209	c.4642C>T	p.Q1548*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5944134	c.5650_5650delA	p.T1884fs*3	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4169538	c.?	p.P616S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41746	c.4319_4319delG	p.S1441fs*7	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42003	c.4019T>C	p.L1340P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43409	c.?	p.?fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM43117	c.1_6009del6009	p.0?	Whole gene deletion	Haematopoietic_and_lymphoid_tissue
COSM41644	c.1648C>T	p.R550*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41644	c.1648C>T	p.R550*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43467	c.2827C>T	p.Q943*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3738476	c.?	p.L199fs*3	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM88805	c.?	p.S1486*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41650	c.3767G>A	p.G1256D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53196	c.(5187_5190)del1	p.D1730fs*15	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211638	c.2747_2748insA	p.Q917fs*7	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1049743	c.427G>T	p.D143Y	Substitution - Missense	Pancreas
COSM1724995	c.4541delT	p.L1515fs*56	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4170101	c.5319delC	p.F1773fs*47	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5879003	c.3107_3114delACGCCAAG	p.H1036fs*4	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5944264	c.1826delC	p.N610fs*29	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5944294	c.4920delC	p.D1640fs*55	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1666934	c.?	p.M600V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87117	c.3409+1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM211700	c.3139_3140insA	p.T1047fs*11	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM132893	c.1020_1020delC	p.Q341fs*6	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM110780	c.3862G>A	p.G1288S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5582746	c.2785C>T	p.P929S	Substitution - Missense	Skin
COSM5351704	c.1308_1317del10	p.Y437fs*7	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87135	c.3818G>C	p.C1273S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4766094	c.3443A>G	p.Y1148C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5945062	c.4525A>T	p.K1509*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43409	c.?	p.?fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1738053	c.?	p.H994fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41890	c.?	p.I1873T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944241	c.3559_3563delGGCAA	p.G1187fs*9	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211700	c.3139_3140insA	p.T1047fs*11	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5762953	c.1452T>A	p.C484*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43487	c.1823_1823delA	p.N608fs*31	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1169694	c.?	p.Q323*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383817	c.1588C>T	p.Q530*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM87079	c.945_945delC	p.Q317fs*30	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87138	c.3893G>A	p.C1298Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87105	c.2497_2497delT	p.S833fs*8	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1049762	c.4269C>T	p.V1423V	Substitution - coding silent	Endometrium
COSM42029	c.3646C>T	p.R1216*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383944	c.4178C>T	p.T1393I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383950	c.4481C>G	p.S1494*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5415903	c.?	p.P555L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM43413	c.?_?ins?	p.?fs	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM53155	c.?	p.F1287fs*75	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87117	c.3409+1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5990013	c.5635G>A	p.E1879K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM96917	c.(1998_2001)insT	p.(H667_H668)fs*(13_14)	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3760322	c.5284A>G	p.I1762V	Substitution - Missense	Prostate
COSM4383803	c.1355delA	p.E452fs*34	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1015786	c.73T>C	p.C25R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87130	c.3781C>T	p.R1261C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144516	c.1842_1843insG	p.L615fs*23	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1717487	c.4537+49T>C	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4771521	c.4537G>C	p.E1513Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878959	c.1719delC	p.Q574fs*6	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43409	c.?	p.?fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5490945	c.4312delA	p.K1439fs*9	Deletion - Frameshift	Biliary_tract
COSM3598870	c.3281A>T	p.K1094I	Substitution - Missense	Skin
COSM4766118	c.3626T>C	p.L1209P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383768	c.762delT	p.Q255fs*38	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87169	c.4249G>T	p.V1417F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1228963	c.3444T>A	p.Y1148*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1049740	c.268C>T	p.Q90*	Substitution - Nonsense	Endometrium
COSM1724999	c.4618C>T	p.Q1540*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM87185	c.5644G>C	p.A1882P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1737884	c.4100C>A	p.P1367Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5708954	c.1051G>T	p.E351*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4470494	c.1663C>T	p.P555S	Substitution - Missense	Skin
COSM5944280	c.3058delC	p.Q1020fs*13	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42047	c.1954C>T	p.Q652*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4437048	c.3524T>A	p.I1175N	Substitution - Missense	Oesophagus
COSM43505	c.?	p.R1516*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41731	c.4_4delG	p.E2fs*13	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43420	c.4546C>T	p.R1516*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM87136	c.3866G>A	p.C1289Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM110773	c.980_980delC	p.S327fs*1	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87130	c.3781C>T	p.R1261C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1049753	c.2276C>A	p.T759N	Substitution - Missense	Endometrium
COSM3720075	c.4974G>T	p.L1658L	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM1737891	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1485574	c.4150G>C	p.D1384H	Substitution - Missense	Breast
COSM53125	c.?	p.E1845fs*42	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3738494	c.?	p.K306fs*1	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4169525	c.?	p.L1326S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383752	c.311delC	p.S104fs*9	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41894	c.?	p.P1962L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41741	c.5618T>C	p.I1873T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87130	c.3781C>T	p.R1261C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4167283	c.?	p.P1885R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM43413	c.?_?ins?	p.?fs	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM166291	c.5681C>T	p.P1894L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41730	c.3953A>G	p.E1318G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944291	c.4272delT	p.D1425fs*23	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5989982	c.5606G>T	p.G1869V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716775	c.?	p.A1512fs*59	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87161	c.4138C>T	p.H1380Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87161	c.4138C>T	p.H1380Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1169689	c.?	p.D1242fs*11	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1318632	c.822delC	p.N275fs*18	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41747	c.3897G>C	p.K1299N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5945071	c.5615T>G	p.L1872R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685368	c.?	p.Q769*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1228968	c.260A>C	p.K87T	Substitution - Missense	Large_intestine
COSM53129	c.?	p.L371*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM327115	c.4759G>A	p.D1587N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM96925	c.4567C>T	p.Q1523*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM42055	c.4076G>A	p.R1359H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM42016	c.4393C>T	p.R1465*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1013372	c.4070_4071delAG	p.E1357fs*43	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43446	c.2428C>T	p.Q810*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211688	c.2158C>T	p.Q720*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM144541	c.2024C>A	p.S675*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5944260	c.1678delC	p.L560fs*1	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5974956	c.1490C>T	p.T497I	Substitution - Missense	Upper_aerodigestive_tract
COSM88815	c.?	p.A1915fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87108	c.2692G>T	p.G898*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM87093	c.1860C>G	p.Y620*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1738041	c.?	p.S402fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM88807	c.?	p.P1885fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5020013	c.5162T>G	p.L1721W	Substitution - Missense	Soft_tissue
COSM96485	c.651_651delC	p.V218fs*32	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM144515	c.4615C>T	p.Q1539*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41706	c.4354C>T	p.R1452*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM732045	c.2824C>T	p.P942S	Substitution - Missense	Lung
COSM1169697	c.1061C>A	p.S354*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1737965	c.1072A>G	p.S358G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4766097	c.2375_2375delC	p.S792fs*1	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5879031	c.4080delG	p.G1361fs*2	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM53147	c.?	p.V160fs*22	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3365443	c.3825G>A	p.G1275G	Substitution - coding silent	Biliary_tract
COSM87080	c.998_998delC	p.P333fs*14	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3598860	c.2284C>T	p.H762Y	Substitution - Missense	Cervix
COSM87141	c.3954+1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4766103	c.3489_3489delC	p.M1164fs*62	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1049763	c.4715G>A	p.R1572Q	Substitution - Missense	Endometrium
COSM1716807	c.?	p.Q1547*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4653755	c.3641G>A	p.R1214Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41742	c.5152G>T	p.V1718L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM732047	c.324G>A	p.Q108Q	Substitution - coding silent	Lung
COSM211732	c.4188C>G	p.C1396W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4170053	c.4954C>T	p.Q1652*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4385569	c.1678_1679insT	p.K561fs*6	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1716789	c.2440C>T	p.R814C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52002	c.?	p.N1156fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5415900	c.?	p.I1105fs	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4766172	c.2578C>T	p.Q860*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5878957	c.1696G>T	p.E566*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1426213	c.3108C>T	p.H1036H	Substitution - coding silent	Large_intestine
COSM1666080	c.3202_3203insA	p.T1069fs*7	Insertion - Frameshift	Kidney
COSM87110	c.2862G>A	p.W954*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211706	c.403G>T	p.E135*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1168027	c.702T>G	p.Y234*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43505	c.?	p.R1516*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM100070	c.2887C>T	p.Q963*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43445	c.5642A>G	p.H1881R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM211684	c.1876C>T	p.Q626*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1166604	c.3717_3718insAC	p.L1240fs*14	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4170038	c.3986T>C	p.L1329P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4996390	c.3412C>T	p.Q1138*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM4167253	c.?	p.E984*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43409	c.?	p.?fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4170030	c.4147A>G	p.R1383G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5446507	c.4643_4645delAGC	p.Q1548delQ	Deletion - In frame	Thyroid
COSM1309594	c.3270G>C	p.K1090N	Substitution - Missense	Urinary_tract
COSM5879052	c.5836delG	p.G1946fs*4	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5944278	c.2906delA	p.T970fs*37	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4170108	c.355_356insATGG	p.E121fs*5	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM88818	c.?	p.D1425fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1737882	c.3578G>A	p.C1193Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1717482	c.2403_2404insT	p.V802fs*14	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4170146	c.2310_2311insAG	p.G773fs*41	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1021019	c.4850C>A	p.P1617H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1168025	c.2200C>T	p.Q734*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1736936	c.3616G>A	p.E1206K	Substitution - Missense	Central_nervous_system
COSM4385594	c.3105_3106insG	p.H1036fs*7	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42011	c.5615T>C	p.L1872P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM307759	c.?	p.L34F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5945023	c.1909G>T	p.E637*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM144509	c.5752G>T	p.E1918*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1717481	c.3711G>A	p.P1237P	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM5453504	c.2561T>C	p.F854S	Substitution - Missense	Large_intestine
COSM87106	c.2527G>T	p.E843*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM110748	c.3813_3813delC	p.C1271fs*92	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1288430	c.2144A>G	p.N715S	Substitution - Missense	Autonomic_ganglia
COSM53140	c.?	p.R550*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM307765	c.?	p.Q1445*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM288628	c.1572G>A	p.E524E	Substitution - coding silent	Large_intestine
COSM253320	c.?	p.V1395fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM53139	c.?	p.Q644*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1049759	c.3685C>A	p.L1229I	Substitution - Missense	Endometrium
COSM1318632	c.822delC	p.N275fs*18	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42070	c.5650A>G	p.T1884A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM100073	c.840_841insT	p.N281fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87124	c.3632G>A	p.C1211Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383957	c.4794T>A	p.Y1598*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5945033	c.2846A>G	p.H949R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5990028	c.3310_3311insTATA	p.F1104fs*27	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM43117	c.1_6009del6009	p.0?	Whole gene deletion	Haematopoietic_and_lymphoid_tissue
COSM5945046	c.3785G>A	p.R1262Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43435	c.4468G>T	p.E1490*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM219047	c.?	p.Q1532fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87169	c.4249G>T	p.V1417F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM126965	c.1763C>A	p.S588*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM87082	c.1118_1122delAAAAT	p.Q373fs*15	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383780	c.1070delG	p.S357fs*15	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5879027	c.3896A>C	p.K1299T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM214588	c.817C>T	p.Q273*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM219069	c.?	p.A1505V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87138	c.3893G>A	p.C1298Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87112	c.2896C>T	p.Q966*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM166299	c.1013_1013delA	p.N338fs*9	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3974649	c.1735C>G	p.L579V	Substitution - Missense	Central_nervous_system
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM211632	c.5609C>T	p.S1870L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53108	c.?	p.P1941S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43412	c.?_?del?	p.?fs	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42046	c.3967G>T	p.E1323*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211712	c.3483A>C	p.R1161S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87107	c.2604T>G	p.F868L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4170035	c.1888A>T	p.K630*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4596109	c.4148G>A	p.R1383K	Substitution - Missense	Upper_aerodigestive_tract
COSM5025086	c.991A>T	p.I331L	Substitution - Missense	Breast
COSM5708950	c.296G>C	p.S99T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5879050	c.5648C>G	p.T1883R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1737891	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4766171	c.5687G>C	p.R1896T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4385605	c.4735_4736insA	p.Y1579fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM110766	c.4527_4528insA	p.Q1510fs*68	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43412	c.?_?del?	p.?fs	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5879030	c.3987delG	p.S1330fs*33	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41732	c.2504C>G	p.S835*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4766112	c.3501-2A>G	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM43434	c.3112_3121del10	p.K1038fs*14	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42037	c.4210C>T	p.R1404*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4167250	c.?	p.S890A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53046	c.?	p.Q1627fs*33	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383899	c.3315_3316delAG	p.E1106fs*23	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43440	c.1061C>G	p.S354*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM53274	c.5041_5048delCCAAGGTT	p.P1681fs*3	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1049765	c.4832C>A	p.S1611Y	Substitution - Missense	Endometrium
COSM1716802	c.?	p.Q591*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3738491	c.?	p.C1298fs*2	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM307759	c.?	p.L34F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3719314	c.4894C>T	p.Q1632*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43433	c.937_940delACCT	p.T313fs*33	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211728	c.3965T>A	p.L1322Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1318626	c.2839C>T	p.Q947*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM110756	c.1900_1901insTG	p.Y634fs*6	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM53246	c.3001A>T	p.K1001*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383819	c.1646delC	p.T549fs*12	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87130	c.3781C>T	p.R1261C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144518	c.3594+1delG	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM220690	c.4472A>G	p.K1491R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4170168	c.3821_3822delAG	p.Q1274fs*25	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1716774	c.?	p.F1104fs*2	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM329085	c.4513G>A	p.A1505T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716789	c.2440C>T	p.R814C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3824890	c.1276C>G	p.L426V	Substitution - Missense	Breast
COSM5878926	c.546_547insA	p.N183fs*2	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41912	c.?	p.L590_H650del	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM4383881	c.2953delC	p.P985fs*22	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5878976	c.2491C>T	p.Q831*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM42031	c.4893T>G	p.Y1631*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1716777	c.?	p.Q324*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211623	c.3909C>A	p.S1303R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3738501	c.?	p.M1164K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43412	c.?_?del?	p.?fs	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211743	c.5046_5046delG	p.R1682fs*13	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM110764	c.4853_4854insA	p.Y1618fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3735006	c.?	p.L1340R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM96931	c.1336_1337delTT	p.L446fs*8	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5720268	c.5665C>T	p.P1889S	Substitution - Missense	Skin
COSM4158737	c.2771A>G	p.H924R	Substitution - Missense	Thyroid
COSM5020249	c.86C>G	p.P29R	Substitution - Missense	Soft_tissue
COSM211627	c.4714C>T	p.R1572W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM253319	c.?	p.P463fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211694	c.2848_2867del20	p.A950fs*15	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211621	c.3697T>G	p.W1233G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4766132	c.5698G>T	p.V1900F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5484658	c.5693C>A	p.S1898Y	Substitution - Missense	Large_intestine
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4167264	c.?	p.T1270fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42024	c.2407C>T	p.Q803*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM53133	c.?	p.Q888*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM53045	c.?	p.L1360Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944516	c.4124_4125insT	p.L1375fs*26	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM2952794	c.3888T>C	p.N1296N	Substitution - coding silent	Large_intestine
COSM43430	c.5381_5385delCTAAT	p.A1794fs*10	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211699	c.3081_3081delC	p.M1028fs*5	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87188	c.5675_5676insA	p.N1892fs*14	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1169700	c.1680_1681insNN	p.K561fs*8	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3408967	c.2946G>C	p.K982N	Substitution - Missense	Central_nervous_system
COSM4383855	c.2504C>A	p.S835*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5879024	c.3813C>A	p.C1271*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4169539	c.?	p.E783fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM43117	c.1_6009del6009	p.0?	Whole gene deletion	Haematopoietic_and_lymphoid_tissue
COSM41644	c.1648C>T	p.R550*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM100055	c.4256C>G	p.P1419R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3598864	c.2874G>A	p.Q958Q	Substitution - coding silent	Skin
COSM43412	c.?_?del?	p.?fs	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5945072	c.5620G>A	p.E1874K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM221609	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716801	c.?	p.P1889L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM51996	c.?	p.Y2001*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3760322	c.5284A>G	p.I1762V	Substitution - Missense	Thyroid
COSM4383899	c.3315_3316delAG	p.E1106fs*23	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4437346	c.2141C>A	p.S714*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5990062	c.2006_2007insT	p.A671fs*10	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5945067	c.5156G>A	p.G1719E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM211688	c.2158C>T	p.Q720*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4766105	c.4713_4714insA	p.R1572fs*6	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43436	c.973C>T	p.Q325*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3735000	c.?	p.N7S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM53162	c.?	p.R1465Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53116	c.?	p.A619fs*19	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41886	c.?	p.L1398R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM100071	c.4471A>T	p.K1491*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM120177	c.3851C>T	p.S1284F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM221609	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87109	c.2855_2856insT	p.R953fs*19	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87172	c.4824T>G	p.Y1608*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM214588	c.817C>T	p.Q273*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM51209	c.4642C>T	p.Q1548*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211751	c.5711A>G	p.H1904R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3735002	c.?	p.C1221fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211731	c.4133G>A	p.C1378Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM42070	c.5650A>G	p.T1884A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43482	c.3658_3658delA	p.T1220fs*6	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211615	c.3009G>A	p.W1003*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM2270972	c.3997_3998insA	p.M1333fs*6	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42037	c.4210C>T	p.R1404*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41901	c.?	p.R1216*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4383969	c.5587G>A	p.A1863T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM96522	c.3202C>T	p.Q1068*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211643	c.3782G>A	p.R1261H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM219074	c.?	p.N1266Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3598860	c.2284C>T	p.H762Y	Substitution - Missense	Skin
COSM211698	c.3009_3009delG	p.W1003fs*1	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5944266	c.2237delA	p.K747fs*4	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1169608	c.?	p.Y61fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383760	c.506_507delAT	p.H169fs*6	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41741	c.5618T>C	p.I1873T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41645	c.3157C>T	p.Q1053*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM87124	c.3632G>A	p.C1211Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87179	c.5338_5338delC	p.L1780fs*40	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41850	c.1630C>T	p.R544*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1235472	c.5167C>T	p.P1723S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4170048	c.1843C>T	p.L615F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944295	c.5180_5183delATGA	p.H1727fs*17	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1583048	c.?	p.Q966fs*42	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM53054	c.?	p.L862fs*8	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM221609	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5945739	c.4044+1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5944494	c.1424_1425insG	p.L476fs*3	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM327113	c.3500+10G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM43421	c.5059C>T	p.Q1687*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1015786	c.73T>C	p.C25R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87096	c.2149_2150delCA	p.H717fs*5	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM200502	c.829G>A	p.A277T	Substitution - Missense	Prostate
COSM4121131	c.1706C>T	p.A569V	Substitution - Missense	Stomach
COSM4766115	c.4204_4204delG	p.D1402fs*46	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1169685	c.?	p.S1525fs*53	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM100058	c.4333C>T	p.Q1445*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41644	c.1648C>T	p.R550*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43503	c.?	p.Q943*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM110768	c.2596C>T	p.Q866*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4169522	c.?	p.K53E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878945	c.1250_1251insG	p.L418fs*25	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87161	c.4138C>T	p.H1380Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944502	c.2308_2309insA	p.R771fs*10	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43421	c.5059C>T	p.Q1687*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3945849	c.5551G>T	p.E1851*	Substitution - Nonsense	Lung
COSM42000	c.1720C>T	p.Q574*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1168029	c.1782_1782delC	p.N595fs*6	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1169699	c.1973_1973delA	p.H658fs*42	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4766169	c.3500G>A	p.R1167K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878939	c.1123G>T	p.E375*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211713	c.3532G>T	p.E1178*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM42030	c.3869C>G	p.S1290*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1166667	c.4639C>T	p.Q1547*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383831	c.2068C>T	p.Q690*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5944288	c.3708delC	p.P1237fs*16	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383959	c.4825T>A	p.L1609M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944135	c.3533A>G	p.E1178G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4167270	c.?	p.K1339R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5879021	c.3763_3764insG	p.Y1255fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM132898	c.5038C>T	p.Q1680*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41850	c.1630C>T	p.R544*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4385596	c.3119_3120insA	p.F1041fs*2	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5989983	c.5671A>G	p.R1891G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383934	c.4045-2A>G	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM97079	c.?	p.E350K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43520	c.1378_1378delT	p.S460fs*26	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211730	c.4093_4094insAG	p.G1365fs*84	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5944274	c.2785delC	p.P929fs*24	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211617	c.3061C>T	p.Q1021*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211707	c.565_565delA	p.S189fs*18	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211710	c.970C>T	p.Q324*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3719128	c.3728A>G	p.K1243R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53133	c.?	p.Q888*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5415906	c.?	p.N1890S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4766129	c.3664G>T	p.E1222*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1737964	c.3765C>G	p.Y1255*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5708970	c.4131C>A	p.F1377L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5047770	c.2461C>T	p.Q821*	Substitution - Nonsense	Oesophagus
COSM42016	c.4393C>T	p.R1465*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211678	c.1110T>A	p.Y370*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1169609	c.?	p.T1114I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4766113	c.3088C>T	p.Q1030*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41644	c.1648C>T	p.R550*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43504	c.2290_2291insC	p.Q764fs*5	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM100053	c.2656C>T	p.Q886*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM42089	c.1716_1716delT	p.H573fs*7	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM249779	c.4527_4527delA	p.K1509fs*62	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42016	c.4393C>T	p.R1465*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4170052	c.4139A>T	p.H1380L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5879005	c.3247C>T	p.Q1083*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM53270	c.?	p.L1515fs*56	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87138	c.3893G>A	p.C1298Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43413	c.?_?ins?	p.?fs	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4385605	c.4735_4736insA	p.Y1579fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1169686	c.?	p.Q810*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5879025	c.3849_3868del20	p.S1284fs*9	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43431	c.971_971delA	p.Q324fs*23	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87181	c.5456_5457insGGGAC	p.S1820fs*15	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5878986	c.2657_2658insG	p.E887fs*14	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3738497	c.?	p.G1754fs*7	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211665	c.3775_3776insGCTCA	p.T1259fs*9	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM100055	c.4256C>G	p.P1419R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716780	c.?	p.Q649*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM51994	c.?	p.C784*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5442922	c.980C>G	p.S327*	Substitution - Nonsense	Oesophagus
COSM110810	c.3305_3306insA	p.N1102fs*2	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3428021	c.1635C>T	p.D545D	Substitution - coding silent	Large_intestine
COSM5945048	c.3818G>T	p.C1273F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM110778	c.4258_4264delTTATACA	p.L1420fs*26	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM43427	c.4609C>T	p.Q1537*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5944262	c.1747_1750delGAGG	p.E583fs*17	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4385532	c.25G>A	p.V9I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM100052	c.1342_1342delG	p.E448fs*2	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43525	c.2650_2651insC	p.Q884fs*17	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4172348	c.4327_4328insC	p.I1444fs*34	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM110784	c.4757C>A	p.S1586*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43420	c.4546C>T	p.R1516*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211725	c.3860T>C	p.F1287S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3719516	c.3730_3731delCT	p.Y1245fs*22	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5944287	c.3413delA	p.I1139fs*13	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1169683	c.?	p.K450*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM53118	c.?	p.V872fs*44	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1169609	c.?	p.T1114I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM211705	c.375_375delC	p.F125fs*3	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41644	c.1648C>T	p.R550*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43417	c.2746C>T	p.Q916*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM110770	c.5594C>G	p.A1865G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43414	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM211724	c.3854_3856delTCT	p.F1285del	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM4383748	c.220delG	p.V74fs*1	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211714	c.3686T>G	p.L1229R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM100062	c.5704_5704delT	p.Y1902fs*6	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM110764	c.4853_4854insA	p.Y1618fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87161	c.4138C>T	p.H1380Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716926	c.4748C>A	p.S1583*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM318104	c.1578G>T	p.Q526H	Substitution - Missense	Lung
COSM211747	c.5283_5284delCA	p.I1762fs*3	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43511	c.4679_4680insA	p.Y1560fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1049764	c.4767T>C	p.Y1589Y	Substitution - coding silent	Endometrium
COSM1664524	c.2743G>C	p.A915P	Substitution - Missense	Kidney
COSM4383974	c.5704T>C	p.Y1902H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5400261	c.5025C>T	p.I1675I	Substitution - coding silent	Skin
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM43501	c.4898_4899insG	p.C1633fs*28	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211757	c.2586_2587insG	p.H863fs*9	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43412	c.?_?del?	p.?fs	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4170046	c.4490C>G	p.S1497*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM219076	c.?	p.Q1084*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41649	c.4075C>T	p.R1359C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716771	c.?	p.S231fs*23	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42002	c.694C>T	p.Q232*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM53268	c.3456_3456delA	p.A1153fs*73	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM132898	c.5038C>T	p.Q1680*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1724995	c.4541delT	p.L1515fs*56	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5989620	c.1024delG	p.G342fs*5	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5415914	c.?	p.Y1902H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5879015	c.3549_3594+46del92	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM41644	c.1648C>T	p.R550*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43472	c.412C>?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM3598848	c.137C>T	p.P46L	Substitution - Missense	Skin
COSM5908450	c.1661C>T	p.P554L	Substitution - Missense	Skin
COSM53282	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4383784	c.1164delT	p.K389fs*38	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43481	c.3717_3718insT	p.L1240fs*3	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211614	c.2710C>T	p.Q904*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211714	c.3686T>G	p.L1229R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53136	c.?	p.I1195V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666935	c.?	p.A304V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1495696	c.1660C>T	p.P554S	Substitution - Missense	Skin
COSM211715	c.3621G>T	p.E1207D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM88813	c.?	p.I1226fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4767348	c.3406_3409delGTAG	p.V1136fs*15	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4383934	c.4045-2A>G	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM120177	c.3851C>T	p.S1284F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383776	c.1021C>T	p.Q341*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM88816	c.?	p.C1298F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53148	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1169695	c.?	p.T1047fs*9	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87130	c.3781C>T	p.R1261C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4170097	c.2551delC	p.P851fs*22	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5586781	c.1754C>T	p.S585L	Substitution - Missense	Skin
COSM53171	c.?	p.Q910*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM3738471	c.?	p.R1366L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87108	c.2692G>T	p.G898*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5879047	c.5275delC	p.P1759fs*4	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4607840	c.1331C>A	p.T444K	Substitution - Missense	Adrenal_gland
COSM4383926	c.3898T>A	p.F1300I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3720596	c.839_840insT	p.N281fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5720268	c.5665C>T	p.P1889S	Substitution - Missense	Skin
COSM43505	c.?	p.R1516*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43421	c.5059C>T	p.Q1687*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM144519	c.4303C>T	p.Q1435*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM132899	c.(1204_1206)insA	p.?fs	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM120166	c.679G>T	p.E227*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43414	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1318622	c.3343delC	p.P1115fs*2	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1013372	c.4070_4071delAG	p.E1357fs*43	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM2270961	c.4115C>T	p.T1372I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1658758	c.3356T>G	p.L1119*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5720268	c.5665C>T	p.P1889S	Substitution - Missense	Skin
COSM211751	c.5711A>G	p.H1904R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4167285	c.?	p.I540fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM307763	c.?	p.S794*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5865527	c.1067C>T	p.S356F	Substitution - Missense	Skin
COSM110784	c.4757C>A	p.S1586*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM87104	c.2474C>G	p.S825*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM327337	c.2599T>C	p.Y867H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1724984	c.3765C>A	p.Y1255*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM219092	c.?	p.E1428*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43413	c.?_?ins?	p.?fs	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211672	c.3575G>T	p.G1192V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM222930	c.2179G>A	p.A727T	Substitution - Missense	Skin
COSM4187064	c.3525_3527delTAG	p.I1175_R1176>M	Complex - deletion inframe	Kidney
COSM1738043	c.?	p.Q749fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5879014	c.3533delA	p.R1179fs*47	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4385578	c.2165_2166insA	p.P723fs*3	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42016	c.4393C>T	p.R1465*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1015786	c.73T>C	p.C25R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87084	c.1219_1219delT	p.S407fs*20	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM340680	c.1876C>G	p.Q626E	Substitution - Missense	Lung
COSM4170162	c.1955delA	p.Q652fs*48	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43417	c.2746C>T	p.Q916*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM87169	c.4249G>T	p.V1417F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3720599	c.2227_2228insA	p.Q744fs*10	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42061	c.1843_1844insG	p.L615fs*23	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43440	c.1061C>G	p.S354*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM110754	c.4106C>G	p.S1369*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM87130	c.3781C>T	p.R1261C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM211739	c.4834_4835insA	p.S1612fs*2	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383813	c.1558G>A	p.G520S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41896	c.?	p.Q417*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4767347	c.2530_2533delAATA	p.N844fs*28	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5879044	c.5215delA	p.R1739fs*6	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87121	c.3535_3536insA	p.R1179fs*7	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4766120	c.2088_2089insCA	p.P697fs*4	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42070	c.5650A>G	p.T1884A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM110809	c.4260_4264ATACA>GTC	p.Y1421fs*4	Complex - frameshift	Haematopoietic_and_lymphoid_tissue
COSM110760	c.5192_5192delG	p.G1731fs*14	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM120173	c.1090_1091GG>T	p.G364fs*8	Complex - frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383923	c.3863G>A	p.G1288D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5576147	c.4093G>A	p.G1365S	Substitution - Missense	Stomach
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM200503	c.2391C>T	p.F797F	Substitution - coding silent	Endometrium
COSM110783	c.2147_2147delC	p.S716fs*35	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42059	c.5564_5573del10	p.L1855fs*29	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42046	c.3967G>T	p.E1323*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1049744	c.824A>G	p.N275S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87175	c.5128_5131delACCA	p.T1710fs*8	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5415905	c.?	p.G1192R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716786	c.?	p.Q635*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4416140	c.652G>A	p.V218M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87082	c.1118_1122delAAAAT	p.Q373fs*15	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM2270963	c.3852_3854delCTT	p.F1285del	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM3760322	c.5284A>G	p.I1762V	Substitution - Missense	Prostate
COSM41742	c.5152G>T	p.V1718L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41997	c.2058A>T	p.R686S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3734999	c.?	p.N1118fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4385590	c.2965_2966insAAGC	p.P989fs*21	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383904	c.3514G>A	p.G1172S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383958	c.4816delG	p.G1606fs*4	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42081	c.3487_3487delA	p.I1163fs*63	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4170116	c.4677delT	p.Y1560fs*11	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1013016	c.5087A>G	p.Y1696C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878994	c.2839_2840insA	p.H949fs*23	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42016	c.4393C>T	p.R1465*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211681	c.1478_1485delCAGGGACA	p.A493fs*8	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3916906	c.313G>A	p.G105R	Substitution - Missense	Skin
COSM4170153	c.2804_2805delGA	p.G935fs*36	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383811	c.1528G>T	p.E510*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM307759	c.?	p.L34F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87117	c.3409+1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM43477	c.(1060_1062)insA	p.(S354_G355)fs*?	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211748	c.5556_5556delG	p.S1853fs*34	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5020013	c.5162T>G	p.L1721W	Substitution - Missense	Soft_tissue
COSM1169696	c.4619_4619delA	p.Q1540fs*31	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM100063	c.1645_1645delA	p.T549fs*12	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM221605	c.4532T>A	p.L1511*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211708	c.591_591delT	p.I197fs*10	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41878	c.1147C>T	p.Q383*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5879023	c.3804-2A>G	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1716798	c.?	p.Q1540*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM253318	c.?	p.Q706*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4170029	c.4621C>T	p.Q1541*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211611	c.1489A>T	p.T497S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM42016	c.4393C>T	p.R1465*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5879038	c.4796_4797delCC	p.S1599fs*14	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42015	c.5647_5647delA	p.T1883fs*4	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4169528	c.?	p.K389Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM42070	c.5650A>G	p.T1884A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87112	c.2896C>T	p.Q966*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1664528	c.4078C>A	p.L1360M	Substitution - Missense	Kidney
COSM4383901	c.3344C>A	p.P1115H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5030974	c.1568_1569insTCTT	p.E524fs*44	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41896	c.?	p.Q417*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41644	c.1648C>T	p.R550*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211643	c.3782G>A	p.R1261H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144542	c.3214_3215insG	p.A1072fs*4	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41734	c.3119T>G	p.L1040*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM53152	c.?	p.E576*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4169900	c.2441delG	p.R814fs*10	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42016	c.4393C>T	p.R1465*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5878982	c.2565delA	p.G856fs*17	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43437	c.822_822delC	p.N275fs*18	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1015786	c.73T>C	p.C25R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM110751	c.3735C>A	p.Y1245*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3916908	c.1173C>T	p.S391S	Substitution - coding silent	Skin
COSM43440	c.1061C>G	p.S354*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5989644	c.2091delA	p.V698fs*2	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43409	c.?	p.?fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1049747	c.1421C>T	p.P474L	Substitution - Missense	Endometrium
COSM1426215	c.3447C>A	p.T1149T	Substitution - coding silent	Large_intestine
COSM43214	c.5541G>A	p.W1847*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1664527	c.3527G>C	p.R1176T	Substitution - Missense	Kidney
COSM88804	c.?	p.R1307S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM219080	c.?	p.E121*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43425	c.4283_4283delA	p.E1428fs*20	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5878964	c.1937_1938insAGTGG	p.D648fs*54	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41850	c.1630C>T	p.R544*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5879016	c.3589A>G	p.K1197E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4170056	c.4537+1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM41644	c.1648C>T	p.R550*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1716781	c.?	p.A1876V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM211669	c.5648C>T	p.T1883I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5060047	c.5644G>A	p.A1882T	Substitution - Missense	Stomach
COSM5944236	c.3725_3729delACAAA	p.D1242fs*24	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42016	c.4393C>T	p.R1465*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1169606	c.?	p.A912fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM120170	c.1802_1802delC	p.S602fs*37	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM2270960	c.2123C>G	p.S708*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1716769	c.?	p.Q278*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM87171	c.4501C>T	p.Q1501*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383970	c.5641C>T	p.H1881Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87088	c.1753_1753delT	p.S585fs*16	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87130	c.3781C>T	p.R1261C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43409	c.?	p.?fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43507	c.?	p.Y1255*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM53238	c.?	p.Q1138*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41644	c.1648C>T	p.R550*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1168018	c.2518_2518delC	p.L840fs*1	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1716789	c.2440C>T	p.R814C	Substitution - Missense	Pancreas
COSM4169537	c.?	p.M695fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5351678	c.1471C>A	p.Q491K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM51997	c.?	p.S1292R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM42006	c.3500+3A>C	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM211734	c.4579C>T	p.Q1527*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM87128	c.3729_3729delA	p.K1243fs*10	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383970	c.5641C>T	p.H1881Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87182	c.5482C>T	p.Q1828*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM110746	c.5486_5486delC	p.P1829fs*4	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383918	c.3788G>A	p.C1263Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM42023	c.?	p.K959fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43413	c.?_?ins?	p.?fs	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4169546	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1318628	c.2638delC	p.H880fs*41	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM126965	c.1763C>A	p.S588*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3718982	c.650delC	p.V218fs*32	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43508	c.961C>T	p.Q321*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43446	c.2428C>T	p.Q810*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM96523	c.?	p.V1718L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM42070	c.5650A>G	p.T1884A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4170137	c.2254_2257delAATA	p.N752fs*60	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM110777	c.2003_2003delT	p.L668fs*32	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211725	c.3860T>C	p.F1287S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2952797	c.4074C>T	p.C1358C	Substitution - coding silent	Pancreas
COSM4170032	c.2245C>T	p.Q749*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM42014	c.5500C>T	p.Q1834*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM4996391	c.4250T>G	p.V1417G	Substitution - Missense	Upper_aerodigestive_tract
COSM53062	c.?	p.S792*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1716808	c.?	p.R1261H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1426223	c.5921G>T	p.R1974M	Substitution - Missense	Large_intestine
COSM42072	c.3417_3417delT	p.I1140fs*12	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3760322	c.5284A>G	p.I1762V	Substitution - Missense	Prostate
COSM41845	c.?	p.L1210P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383909	c.3626delT	p.L1209fs*17	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1014075	c.2055_2056insA	p.R686fs*7	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1318618	c.4055A>T	p.E1352V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM42029	c.3646C>T	p.R1216*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383873	c.2803G>T	p.G935*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1716802	c.?	p.Q591*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM3720607	c.2715_2716insA	p.M906fs*18	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5878935	c.1107_1108delGT	p.Y370fs*5	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM130409	c.2116C>T	p.Q706*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41740	c.4913C>A	p.S1638*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5762949	c.769A>G	p.T257A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM732046	c.367C>A	p.R123S	Substitution - Missense	Lung
COSM211740	c.4908_4909ins58	p.S1638fs*42	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5762964	c.3845G>T	p.G1282V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5995578	c.4947T>G	p.Y1649*	Substitution - Nonsense	Prostate
COSM5020013	c.5162T>G	p.L1721W	Substitution - Missense	Soft_tissue
COSM4167263	c.?	p.A1264fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87142	c.3957_3957delA	p.E1320fs*43	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43420	c.4546C>T	p.R1516*	Substitution - Nonsense	Salivary_gland
COSM221605	c.4532T>A	p.L1511*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3719516	c.3730_3731delCT	p.Y1245fs*22	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4170165	c.5357_5364delAGAATGAC	p.E1786fs*7	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3738504	c.?	p.Y1569*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4169543	c.?	p.S1586*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43516	c.4853_4854insTA	p.P1619fs*5	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43500	c.2604_2605insT	p.P869fs*3	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211728	c.3965T>A	p.L1322Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM42016	c.4393C>T	p.R1465*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41852	c.4109G>A	p.G1370E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43439	c.2224C>T	p.Q742*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383754	c.329A>G	p.K110R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87116	c.3344_3344delC	p.P1115fs*2	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211666	c.1960C>T	p.Q654*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4166141	c.5447T>A	p.L1816*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM42010	c.2053C>T	p.Q685*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43409	c.?	p.?fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41644	c.1648C>T	p.R550*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4172027	c.?	p.R1440fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM110752	c.847G>T	p.E283*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211745	c.5183_5187delAGATG	p.E1728fs*10	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87169	c.4249G>T	p.V1417F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM219779	c.2641_2642insA	p.R881fs*20	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1741219	c.3748G>T	p.E1250*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41647	c.?	p.E1234G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4121137	c.2242T>A	p.L748I	Substitution - Missense	Stomach
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM41995	c.2570_2570delA	p.N857fs*16	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM53150	c.?	p.E259*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5586779	c.4349T>C	p.F1450S	Substitution - Missense	Skin
COSM5989640	c.4311delG	p.K1439fs*9	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5670532	c.2334G>T	p.Q778H	Substitution - Missense	Soft_tissue
COSM87150	c.4082G>A	p.G1361D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716599	c.3337_3346del10	p.D1113fs*1	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1685378	c.4889C>A	p.S1630*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1685372	c.1259C>G	p.S420*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43420	c.4546C>T	p.R1516*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM100067	c.783_783delC	p.C262fs*31	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87146	c.4044+1G>C	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM41878	c.1147C>T	p.Q383*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5610837	c.3033T>A	p.N1011K	Substitution - Missense	Skin
COSM5989797	c.5736T>G	p.H1912Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5708956	c.1315_1319delAACCA	p.N439fs*2	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5351710	c.2714_2715delAT	p.M906fs*17	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5945044	c.3635T>C	p.L1212S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM211687	c.2095_2096ins42	p.L699fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM51999	c.?	p.P101H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM42008	c.3895A>G	p.K1299E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM88806	c.?	p.Q884*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM42075	c.3965T>C	p.L1322P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1169695	c.?	p.T1047fs*9	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43436	c.973C>T	p.Q325*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM87138	c.3893G>A	p.C1298Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4170106	c.3811_3812insG	p.C1271fs*29	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4170127	c.2474delC	p.S825fs*1	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4733147	c.1724C>T	p.A575V	Substitution - Missense	Large_intestine
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52007	c.?	p.L226fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4982364	c.4356delA	p.V1454fs*4	Deletion - Frameshift	Oesophagus
COSM4605320	c.4140T>C	p.H1380H	Substitution - coding silent	Upper_aerodigestive_tract
COSM42077	c.5636A>C	p.E1879A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944286	c.3331delT	p.L1111fs*2	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43440	c.1061C>G	p.S354*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41706	c.4354C>T	p.R1452*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM315877	c.644C>T	p.A215V	Substitution - Missense	Lung
COSM1737945	c.3809_3810insC	p.C1271fs*29	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42037	c.4210C>T	p.R1404*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5985513	c.925_926insA	p.A309fs*22	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM42035	c.5719_5720insGAGCA	p.M1907fs*3	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1716167	c.3863G>T	p.G1288V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM211643	c.3782G>A	p.R1261H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1049758	c.3410-2A>C	p.?	Unknown	Endometrium
COSM327116	c.3445A>G	p.T1149A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1738052	c.?	p.Q1009*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM53146	c.?	p.A1355P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM42016	c.4393C>T	p.R1465*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5762960	c.3145delA	p.K1049fs*6	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5878666	c.4034A>C	p.Y1345S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41910	c.1154C>G	p.S385*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41649	c.4075C>T	p.R1359C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM42002	c.694C>T	p.Q232*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM53281	c.?ins?	p.?fs*?	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM96485	c.651_651delC	p.V218fs*32	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383877	c.2810delA	p.H937fs*16	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4766169	c.3500G>A	p.R1167K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716783	c.?	p.L560fs*8	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52014	c.?	p.G773V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1618224	c.3554A>C	p.K1185T	Substitution - Missense	Liver
COSM43417	c.2746C>T	p.Q916*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM100053	c.2656C>T	p.Q886*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383913	c.3708_3710delCCC	p.I1236_P1237>M	Complex - deletion inframe	Haematopoietic_and_lymphoid_tissue
COSM5879029	c.3986T>A	p.L1329Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM100061	c.3667_3667delG	p.A1223fs*3	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM447197	c.4106C>T	p.S1369L	Substitution - Missense	Breast
COSM1180268	c.2914T>G	p.S972A	Substitution - Missense	Prostate
COSM1685383	c.?_?del?	p.?fs*?	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43428	c.238C>T	p.Q80*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43443	c.5060_5061delAG	p.S1688fs*4	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM164862	c.3718C>G	p.L1240V	Substitution - Missense	Breast
COSM3735042	c.3064_3065delAA	p.K1022fs*4	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM307764	c.?	p.M1388I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM100066	c.2896_2897delCA	p.Q966fs*5	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1694770	c.980C>T	p.S327L	Substitution - Missense	Skin
COSM5945711	c.1062_1062delA	p.G355fs*17	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211729	c.4064C>T	p.A1355V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944289	c.3893delG	p.C1298fs*65	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87184	c.5627C>T	p.A1876V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM221609	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87169	c.4249G>T	p.V1417F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1023357	c.2166_2166delG	p.K722fs*29	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383942	c.4176C>G	p.S1392R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43484	c.4271_4271delC	p.S1424fs*24	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM100067	c.783_783delC	p.C262fs*31	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41706	c.4354C>T	p.R1452*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM732049	c.28G>C	p.E10Q	Substitution - Missense	Lung
COSM5879023	c.3804-2A>G	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1716797	c.?	p.L1276fs*87	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5417520	c.?	p.M1333fs*6	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43413	c.?_?ins?	p.?fs	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3365443	c.3825G>A	p.G1275G	Substitution - coding silent	Kidney
COSM43504	c.2290_2291insC	p.Q764fs*5	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5945054	c.4102T>G	p.F1368V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43438	c.5473C>T	p.Q1825*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5985194	c.4094G>T	p.G1365V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87169	c.4249G>T	p.V1417F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM211641	c.1496_1496delC	p.P499fs*34	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41844	c.?	p.Q891*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5625555	c.4171G>T	p.G1391C	Substitution - Missense	Oesophagus
COSM41908	c.3186C>T	p.V1062V	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM43490	c.1664_1665insC	p.T556fs*11	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43523	c.5605G>T	p.G1869W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87124	c.3632G>A	p.C1211Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87104	c.2474C>G	p.S825*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41850	c.1630C>T	p.R544*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM307765	c.?	p.Q1445*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1018321	c.291_294delAGTT	p.S99fs*13	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43504	c.2290_2291insC	p.Q764fs*5	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5879000	c.3069_3081del13	p.S1023fs*6	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4767384	c.5551G>A	p.E1851K	Substitution - Missense	Breast
COSM3738481	c.?	p.P1741fs*4	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM100067	c.783_783delC	p.C262fs*31	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87112	c.2896C>T	p.Q966*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1737945	c.3809_3810insC	p.C1271fs*29	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42037	c.4210C>T	p.R1404*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4121129	c.1532A>G	p.H511R	Substitution - Missense	Stomach
COSM42014	c.5500C>T	p.Q1834*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5708972	c.4931_4947del17	p.P1644fs*11	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5945049	c.3844G>T	p.G1282C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM166412	c.?	p.V1417F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM100075	c.4193T>C	p.L1398P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43519	c.2029_2030insT	p.C677fs*4	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM100055	c.4256C>G	p.P1419R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5415904	c.?	p.Q876*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM87161	c.4138C>T	p.H1380Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87169	c.4249G>T	p.V1417F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM211720	c.3812G>A	p.C1271Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53278	c.?	p.H1904?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM211722	c.3820C>G	p.Q1274E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878922	c.155delC	p.K53fs*14	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41901	c.?	p.R1216*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4169535	c.?	p.P851fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM42071	c.2815C>T	p.Q939*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM88817	c.?	p.Q764fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5400259	c.2066C>T	p.S689F	Substitution - Missense	Skin
COSM4167255	c.?	p.S1023fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41730	c.3953A>G	p.E1318G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3738478	c.?	p.L1081*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM87161	c.4138C>T	p.H1380Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM211631	c.5597_5608del12	p.T1867_S1870del	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM5879048	c.5348delA	p.N1784fs*36	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211731	c.4133G>A	p.C1378Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM110808	c.4317_4318delAC	p.R1440fs*37	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM53141	c.?	p.Q526*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3598858	c.2044C>T	p.H682Y	Substitution - Missense	Skin
COSM87104	c.2474C>G	p.S825*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41850	c.1630C>T	p.R544*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3660829	c.2201A>G	p.Q734R	Substitution - Missense	Liver
COSM53057	c.?	p.K959fs*15	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM43117	c.1_6009del6009	p.0?	Whole gene deletion	Haematopoietic_and_lymphoid_tissue
COSM3598862	c.2289C>T	p.P763P	Substitution - coding silent	Skin
COSM5878966	c.2027_2028delTG	p.C677fs*3	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM96488	c.3820C>T	p.Q1274*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5989636	c.2557delC	p.L853fs*20	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1309588	c.1882G>A	p.E628K	Substitution - Missense	Urinary_tract
COSM87095	c.2083_2084insA	p.M695fs*17	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4170158	c.4521delG	p.A1508fs*63	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5762963	c.3818G>A	p.C1273Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1738136	c.?	p.Q976*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM221601	c.4537+2T>C	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM41644	c.1648C>T	p.R550*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM87178	c.5283_5283delC	p.H1761fs*2	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211735	c.4600C>T	p.Q1534*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM87161	c.4138C>T	p.H1380Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM219144	c.787_787delG	p.E263fs*30	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41742	c.5152G>T	p.V1718L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43426	c.4977T>G	p.Y1659*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5944133	c.3765_3765delC	p.Y1255fs*1	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4169542	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM87107	c.2604T>G	p.F868L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM211733	c.4225A>T	p.K1409*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM219139	c.4082G>T	p.G1361V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1633398	c.383_384insCC	p.Q129fs*17	Insertion - Frameshift	Liver
COSM42037	c.4210C>T	p.R1404*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4766111	c.5621A>G	p.E1874G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5945061	c.4400G>A	p.R1467K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3738477	c.?	p.E1178fs*48	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM221606	c.2362G>A	p.E788K	Substitution - Missense	Skin
COSM4167278	c.?	p.L1621fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4614011	c.495delT	p.S167fs*16	Deletion - Frameshift	Large_intestine
COSM87189	c.5681C>A	p.P1894H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM42036	c.3571C>T	p.Q1191*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43499	c.5693C>T	p.S1898F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM46414	c.1903C>T	p.Q635*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383877	c.2810delA	p.H937fs*16	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41885	c.3871T>C	p.W1291R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43409	c.?	p.?fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52010	c.?	p.T492S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3738469	c.?	p.G1869E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87192	c.5885C>T	p.P1962L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716793	c.?	p.G1861fs*26	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4385607	c.5010_5011insA	p.S1671fs*16	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3738505	c.4183-16_4183-6del11	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM3718982	c.650delC	p.V218fs*32	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5400257	c.1256C>T	p.P419L	Substitution - Missense	Skin
COSM166289	c.3404G>A	p.C1135Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM211622	c.3899T>G	p.F1300C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87182	c.5482C>T	p.Q1828*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM144516	c.1842_1843insG	p.L615fs*23	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211693	c.2800G>T	p.G934*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1168023	c.4165C>T	p.Q1389*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1724984	c.3765C>A	p.Y1255*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383841	c.2277_2278delTT	p.F760fs*8	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5945021	c.1795C>T	p.Q599*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM219067	c.?	p.G1256A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666929	c.?	p.L651P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM96522	c.3202C>T	p.Q1068*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1716917	c.1467_1468insT	p.I490fs*14	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3428024	c.3569C>A	p.S1190Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4170125	c.2421delG	p.E808fs*5	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM2952696	c.679_680insA	p.T229fs*25	Insertion - Frameshift	Large_intestine
COSM100053	c.2656C>T	p.Q886*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4766108	c.3954+2T>C	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4766095	c.5253_5254insT	p.K1752fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1741219	c.3748G>T	p.E1250*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM110784	c.4757C>A	p.S1586*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383839	c.2272C>T	p.Q758*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383954	c.4767delT	p.Y1589fs*1	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383879	c.2950G>T	p.E984*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM166838	c.5666C>T	p.P1889L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3738489	c.?	p.E576fs*4	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41685	c.5738G>A	p.G1913D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1717480	c.3671_3671delC	p.A1224fs*2	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM732048	c.223A>T	p.S75C	Substitution - Missense	Lung
COSM5990068	c.4287delT	p.F1429fs*19	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87148	c.4044+2_4044+3insT	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4172349	c.5235_5239delCAATC	p.N1746fs*5	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM46456	c.1669C>T	p.Q557*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM144515	c.4615C>T	p.Q1539*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1168030	c.5703_5704delTT	p.F1901fs*4	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42037	c.4210C>T	p.R1404*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4766166	c.3897G>T	p.K1299N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944518	c.4629_4630insC	p.Q1545fs*33	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5945013	c.550G>T	p.E184*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM87130	c.3781C>T	p.R1261C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144545	c.5216G>T	p.R1739I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM42029	c.3646C>T	p.R1216*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383837	c.2269delC	p.L757fs*56	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383962	c.4988delG	p.S1663fs*32	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4766119	c.3958G>T	p.E1320*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4167274	c.?	p.T1463P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43467	c.2827C>T	p.Q943*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1737546	c.5077T>G	p.Y1693D	Substitution - Missense	Central_nervous_system
COSM4383935	c.4072T>C	p.C1358R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM120176	c.3813C>G	p.C1271W	Substitution - Missense	Bone
COSM87191	c.5750G>A	p.W1917*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211667	c.3699G>A	p.W1233*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM42075	c.3965T>C	p.L1322P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4169795	c.3535_3536delAG	p.R1179fs*6	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4170026	c.4129T>A	p.F1377I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5415909	c.?	p.C834Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM132892	c.949C>T	p.Q317*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41846	c.?	p.R544*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5708976	c.5669A>G	p.N1890S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1166769	c.3720delG	p.A1241fs*12	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM231578	c.1037T>C	p.L346P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43419	c.5570_5580del11	p.P1857fs*14	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383971	c.5642A>C	p.H1881P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53123	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM219099	c.?	p.Y1645*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1724999	c.4618C>T	p.Q1540*	Substitution - Nonsense	Pancreas
COSM1228966	c.4427C>T	p.A1476V	Substitution - Missense	Large_intestine
COSM3735041	c.2899_2899delC	p.Q967fs*40	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5762957	c.2455_2456insA	p.Y819fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5944248	c.895delG	p.D299fs*9	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM3598850	c.717C>T	p.S239S	Substitution - coding silent	Skin
COSM88812	c.?	p.D1075fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5879026	c.3881A>G	p.Y1294C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM42016	c.4393C>T	p.R1465*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM52009	c.?	p.G1282D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1737892	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM41741	c.5618T>C	p.I1873T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87115	c.3237_3237A>CCC	p.A1080fs*3	Complex - frameshift	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5990072	c.3508delC	p.Q1170fs*56	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1738049	c.?	p.P398L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3775461	c.2966C>T	p.P989L	Substitution - Missense	Skin
COSM42016	c.4393C>T	p.R1465*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4437346	c.2141C>A	p.S714*	Substitution - Nonsense	Oesophagus
COSM1426217	c.4208A>G	p.N1403S	Substitution - Missense	Large_intestine
COSM144519	c.4303C>T	p.Q1435*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43420	c.4546C>T	p.R1516*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211615	c.3009G>A	p.W1003*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM42090	c.1925_1925delA	p.Q642fs*58	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM87108	c.2692G>T	p.G898*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5944250	c.905_906delAT	p.D302fs*4	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM249229	c.1567G>T	p.G523*	Substitution - Nonsense	Kidney
COSM4169521	c.?	p.P1460S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716597	c.3047_3050delGTGA	p.C1016fs*16	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3738485	c.?	p.E294*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5990050	c.2167_2168insCT	p.H724fs*28	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41217	c.3965_3966insA	p.E1323fs*16	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4605320	c.4140T>C	p.H1380H	Substitution - coding silent	Soft_tissue
COSM166834	c.3921delG	p.K1308fs*55	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1169691	c.?	p.S1190fs*3	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43466	c.2133_2133delG	p.E711fs*40	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM110754	c.4106C>G	p.S1369*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211684	c.1876C>T	p.Q626*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5708969	c.4043A>C	p.Q1348P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM42025	c.?	p.R1465*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4766171	c.5687G>C	p.R1896T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM110768	c.2596C>T	p.Q866*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM42016	c.4393C>T	p.R1465*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383910	c.3629_3630delTG	p.C1211fs*11	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1169688	c.?	p.E852*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4170169	c.5018_5019delCA	p.P1674fs*12	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4166526	c.?	p.Q361*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4170154	c.4994delA	p.D1665fs*30	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM100078	c.2282_2282delC	p.P761fs*52	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87124	c.3632G>A	p.C1211Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144541	c.2024C>A	p.S675*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM144513	c.1887_1887delC	p.H629fs*10	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41850	c.1630C>T	p.R544*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM53115	c.?	p.H1380P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52000	c.?	p.Q690fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM211713	c.3532G>T	p.E1178*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211643	c.3782G>A	p.R1261H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5564331	c.3784C>T	p.R1262W	Substitution - Missense	Prostate
COSM4383750	c.307C>G	p.L103V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43438	c.5473C>T	p.Q1825*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM42040	c.4240C>T	p.Q1414*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4170164	c.1236_1243delTCCACAGG	p.P413fs*27	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383835	c.2207C>G	p.S736*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM87176	c.5162T>A	p.L1721*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4170106	c.3811_3812insG	p.C1271fs*29	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4170157	c.4462delA	p.N1489fs*82	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383939	c.4130T>C	p.F1377S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41261	c.?	p.Q1524*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1318617	c.4060_4061delAG	p.R1354fs*46	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383916	c.3743T>A	p.L1248H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1318634	c.375delC	p.F125fs*3	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5944139	c.3927_3928insT	p.K1310fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211683	c.1860C>A	p.Y620*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3760322	c.5284A>G	p.I1762V	Substitution - Missense	Prostate
COSM1664529	c.4213G>C	p.E1405Q	Substitution - Missense	Kidney
COSM41645	c.3157C>T	p.Q1053*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM87193	c.5950_5957delGTAACTAC	p.V1984fs*18	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM2270964	c.2246_2252delAATAAAG	p.Q752fs*59	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383948	c.4473delG	p.E1492fs*79	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5610827	c.1631G>A	p.R544Q	Substitution - Missense	Skin
COSM5989925	c.4663G>T	p.E1555*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43409	c.?	p.?fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41709	c.4317_4318insA	p.R1440fs*38	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4766113	c.3088C>T	p.Q1030*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43417	c.2746C>T	p.Q916*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM130409	c.2116C>T	p.Q706*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41730	c.3953A>G	p.E1318G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87169	c.4249G>T	p.V1417F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4766126	c.4240C>G	p.Q1414E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383929	c.3954G>C	p.E1318D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM42002	c.694C>T	p.Q232*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43420	c.4546C>T	p.R1516*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM87107	c.2604T>G	p.F868L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53140	c.?	p.R550*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM42079	c.3970_3971delTC	p.H1325fs*13	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1049751	c.1741C>T	p.R581C	Substitution - Missense	Endometrium
COSM42013	c.5456T>G	p.L1819*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5945051	c.3954+5G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5261949	c.1959delC	p.Q654fs*46	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211631	c.5597_5608del12	p.T1867_S1870del	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM43420	c.4546C>T	p.R1516*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43483	c.3811_3812insT	p.C1271fs*29	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3720609	c.936_937insA	p.T313fs*18	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5967277	c.3500+1G>A	p.?	Unknown	Salivary_gland
COSM4766091	c.3409_3409+1insT	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4653755	c.3641G>A	p.R1214Q	Substitution - Missense	Large_intestine
COSM211728	c.3965T>A	p.L1322Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4170103	c.4285delT	p.F1429fs*19	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43528	c.630_631delTG	p.A211fs*13	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87133	c.3790G>C	p.A1264P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3720594	c.5035_5036insT	p.Y1679fs*8	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1716768	c.?	p.A1512fs*58	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4167243	c.?	p.V498fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43413	c.?_?ins?	p.?fs	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5610831	c.345C>T	p.D115D	Substitution - coding silent	Skin
COSM4167252	c.?	p.Q943T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM97191	c.4893T>A	p.Y1631*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211719	c.3764_3765insA	p.Y1255fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1716884	c.1945C>T	p.Q649*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4759848	c.4819T>G	p.S1607A	Substitution - Missense	Stomach
COSM5646410	c.1438delC	p.P480fs*6	Deletion - Frameshift	Oesophagus
COSM5782785	c.3795G>A	p.L1265L	Substitution - coding silent	Breast
COSM4167249	c.?	p.K889R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1738133	c.?	p.I1177fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5944268	c.2454_2457delTTAT	p.Y819fs*4	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4996386	c.988G>C	p.E330Q	Substitution - Missense	Upper_aerodigestive_tract
COSM4385604	c.4549_4550insT	p.S1518fs*60	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5879033	c.4081G>C	p.G1361R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4385598	c.3160_3161insT	p.V1056fs*2	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383790	c.1252_1255delCTTC	p.P419fs*7	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43475	c.(3432_3434)insA	p.G1145fs*12	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4992083	c.5746C>T	p.L1916F	Substitution - Missense	Skin
COSM4170036	c.4375G>T	p.E1459*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4766164	c.5951_5952insT	p.T1985fs*20	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41741	c.5618T>C	p.I1873T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM110813	c.3861_3861delT	p.F1287fs*76	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM100075	c.4193T>C	p.L1398P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM166833	c.3210delT	p.A1071fs*11	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1049756	c.2546C>T	p.T849I	Substitution - Missense	Bone
COSM4167273	c.?	p.R1440P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1658768	c.1837_1838insG	p.L615fs*23	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4170148	c.1836_1837insG	p.L615fs*23	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4385565	c.845_846insT	p.E283fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4759847	c.2632C>A	p.L878I	Substitution - Missense	Stomach
COSM4166533	c.?	p.L1322Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41900	c.?	p.C1271*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43510	c.3269_3269delA	p.K1090fs*16	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42028	c.3640C>T	p.R1214W	Substitution - Missense	Large_intestine
COSM43476	c.(2290_2292)insC	p.Q764fs*5	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5878961	c.1872delA	p.T625fs*14	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM110752	c.847G>T	p.E283*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1685376	c.3803_3804insT	p.E1268fs*32	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5627118	c.4045-1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5708975	c.5582G>A	p.G1861E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM211751	c.5711A>G	p.H1904R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41646	c.?	p.R2000K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144545	c.5216G>T	p.R1739I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41878	c.1147C>T	p.Q383*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4767350	c.2578_2609del32	p.Q860fs*1	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5400253	c.839C>T	p.S280F	Substitution - Missense	Skin
COSM3598868	c.3205A>G	p.T1069A	Substitution - Missense	Skin
COSM41217	c.3965_3966insA	p.E1323fs*16	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1166762	c.3593delG	p.V1199fs*27	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42070	c.5650A>G	p.T1884A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5945045	c.3647G>A	p.R1216Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1049765	c.4832C>A	p.S1611Y	Substitution - Missense	Large_intestine
COSM5060046	c.1849A>C	p.R617R	Substitution - coding silent	Stomach
COSM5400260	c.4733C>T	p.P1578L	Substitution - Missense	Skin
COSM5990077	c.1906delG	p.V636fs*3	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4169529	c.?	p.Q1034*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43492	c.5456_5456delT	p.L1819fs*1	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4167241	c.?	p.A379V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4605321	c.4145A>G	p.H1382R	Substitution - Missense	Upper_aerodigestive_tract
COSM97190	c.2079_2079delA	p.K693fs*7	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43412	c.?_?del?	p.?fs	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211717	c.3662G>A	p.C1221Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41741	c.5618T>C	p.I1873T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41213	c.1864C>T	p.Q622*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1737890	c.3845G>A	p.G1282D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3598852	c.958G>A	p.E320K	Substitution - Missense	Skin
COSM5878949	c.1557_1558insGGTAGCAG	p.S522fs*14	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM53117	c.?	p.W564*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM42017	c.3411_3411delG	p.E1137fs*15	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1716917	c.1467_1468insT	p.I490fs*14	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4385586	c.2355_2356insT	p.H786fs*3	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3735005	c.?	p.L1258fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383771	c.944delC	p.Q317fs*30	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211626	c.4510_4528del19	p.N1504fs*61	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM2270965	c.3548_3549delCT	p.T1183fs*2	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5945064	c.4544T>A	p.L1515*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383766	c.693delT	p.Q232fs*18	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43442	c.5104C>T	p.Q1702*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM87130	c.3781C>T	p.R1261C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4385601	c.4154_4155insT	p.L1385fs*16	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5351715	c.3746C>A	p.T1249N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41748	c.5687G>T	p.R1896M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5967248	c.?	p.C1271fs*91	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43413	c.?_?ins?	p.?fs	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211757	c.2586_2587insG	p.H863fs*9	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5649501	c.4447G>C	p.E1483Q	Substitution - Missense	Oesophagus
COSM87129	c.3732_3733delCT	p.Y1245fs*22	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42016	c.4393C>T	p.R1465*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5415911	c.?	p.Q969P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM132891	c.2246_2249delAAAT	p.I750fs*62	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211630	c.5381C>G	p.A1794G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383892	c.3169G>T	p.E1057*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1318632	c.822delC	p.N275fs*18	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211751	c.5711A>G	p.H1904R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41910	c.1154C>G	p.S385*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383853	c.2479G>A	p.A827T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53280	c.?ins?	p.fs*?	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM110758	c.1894C>T	p.Q632*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5945052	c.3955-1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM211727	c.4019T>G	p.L1340R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM211697	c.2870T>A	p.L957*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41901	c.?	p.R1216*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1738137	c.?	p.Q317*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43507	c.?	p.Y1255*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41644	c.1648C>T	p.R550*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4167265	c.?	p.Q1274W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM211729	c.4064C>T	p.A1355V	Substitution - Missense	Soft_tissue
COSM5879046	c.5260delG	p.G1754fs*9	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1049742	c.375C>T	p.F125F	Substitution - coding silent	Endometrium
COSM41733	c.3500G>C	p.R1167T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4170104	c.5619_5622delTGAG	p.E1874fs*12	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3738484	c.?	p.L615fs*24	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM51209	c.4642C>T	p.Q1548*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3428023	c.2347G>T	p.E783*	Substitution - Nonsense	Large_intestine
COSM5010439	c.?	p.Q960*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM85919	c.4126G>A	p.D1376N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878992	c.2779_2780insT	p.P929fs*4	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1169610	c.?	p.N844fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM249778	c.3808A>G	p.T1270A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5564331	c.3784C>T	p.R1262W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5400257	c.1256C>T	p.P419L	Substitution - Missense	Skin
COSM4775018	c.5908T>C	p.S1970P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4385603	c.4311_4312insA	p.R1440fs*38	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1644127	c.530_530delC	p.P177fs*6	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1717486	c.3954+35T>G	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1737965	c.1072A>G	p.S358G	Substitution - Missense	Large_intestine
COSM4882249	c.3782G>T	p.R1261L	Substitution - Missense	Upper_aerodigestive_tract
COSM41885	c.3871T>C	p.W1291R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41995	c.2570_2570delA	p.N857fs*16	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43413	c.?_?ins?	p.?fs	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5990051	c.3594+1_3594+2insT	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM42028	c.3640C>T	p.R1214W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM221586	c.2477_2478GT>TA	p.S826I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5351691	c.1559_1560insT	p.S521fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383968	c.5556delG	p.S1853fs*34	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM52013	c.?	p.F1368Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM211723	c.3837_3838delAA	p.E1279fs*20	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42029	c.3646C>T	p.R1216*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5945015	c.1264G>T	p.G422*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41644	c.1648C>T	p.R550*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211632	c.5609C>T	p.S1870L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5989686	c.5736T>A	p.H1912Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2270966	c.5720T>A	p.M1907K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383795	c.1261G>T	p.E421*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383917	c.3755delT	p.L1252fs*14	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1018324	c.3811T>G	p.C1271G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944522	c.5541_5542insG	p.S1848fs*11	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43512	c.2535_2536insT	p.E846fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM307363	c.3058C>T	p.Q1020*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43420	c.4546C>T	p.R1516*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43420	c.4546C>T	p.R1516*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43499	c.5693C>T	p.S1898F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM85917	c.2227C>T	p.Q743*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1049743	c.427G>T	p.D143Y	Substitution - Missense	Endometrium
COSM4383925	c.3873G>T	p.W1291C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM42081	c.3487_3487delA	p.I1163fs*63	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM53158	c.?	p.H1904R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5400255	c.1220C>T	p.S407F	Substitution - Missense	Skin
COSM211643	c.3782G>A	p.R1261H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM96929	c.3088_3088delC	p.Q1030fs*3	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4169533	c.?	p.H682fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4169531	c.?	p.P761L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52009	c.?	p.G1282D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41852	c.4109G>A	p.G1370E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41742	c.5152G>T	p.V1718L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5995719	c.665A>T	p.H222L	Substitution - Missense	Prostate
COSM5713545	c.2332_2333insAA	p.T779fs*35	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3945848	c.4783A>G	p.M1595V	Substitution - Missense	Lung
COSM87182	c.5482C>T	p.Q1828*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM42076	c.5554C>T	p.Q1852*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM53171	c.?	p.Q910*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43409	c.?	p.?fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1716786	c.?	p.Q635*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM42056	c.3655C>T	p.H1219Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43520	c.1378_1378delT	p.S460fs*26	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43474	c.(3893_3897)delG	p.(C1298_K1299)fs*?	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5945068	c.5533G>T	p.E1845*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM52001	c.?	p.L1637fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211751	c.5711A>G	p.H1904R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5995719	c.665A>T	p.H222L	Substitution - Missense	Prostate
COSM5610839	c.692C>T	p.S231F	Substitution - Missense	Skin
COSM110788	c.2638_2641CACA>AC	p.H880fs*20	Complex - frameshift	Haematopoietic_and_lymphoid_tissue
COSM5985511	c.368_369insT	p.N124fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3738490	c.?	p.L1120*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM3738471	c.?	p.R1366L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM110762	c.2488_2489insA	p.I830fs*16	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41644	c.1648C>T	p.R550*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4169520	c.?	p.Y1255fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1737944	c.2604_2604delT	p.P869fs*4	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43457	c.3508C>T	p.Q1170*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4766130	c.3894_3895insT	p.K1299fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM53107	c.?	p.P1937S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM211613	c.2626C>T	p.Q876*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43511	c.4679_4680insA	p.Y1560fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43499	c.5693C>T	p.S1898F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87089	c.1842_1842delG	p.L615fs*24	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87158	c.4102T>C	p.F1368L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716784	c.3501-1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4121121	c.1150A>G	p.S384G	Substitution - Missense	Stomach
COSM42038	c.3579T>G	p.C1193W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383843	c.2281delC	p.P761fs*52	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383863	c.2646C>A	p.C882*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5944498	c.2109_2110insA	p.N704fs*8	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5989537	c.513C>A	p.C171*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1738048	c.?	p.T1078fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM53056	c.?	p.K845fs*28	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM110782	c.4865_4865delT	p.L1622fs*1	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1228965	c.290C>T	p.T97I	Substitution - Missense	Large_intestine
COSM211742	c.4999_5006delCTGTCTAA	p.L1667fs*17	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1731712	c.3981_3982insA	p.N1328fs*11	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM97087	c.3894T>G	p.C1298W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43457	c.3508C>T	p.Q1170*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43438	c.5473C>T	p.Q1825*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5879037	c.4661_4662insA	p.E1555fs*23	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87092	c.1851_1851delG	p.R617fs*22	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41719	c.?	p.K1197R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM219780	c.3803_3803+5delAGTAAG	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM3775459	c.105G>A	p.Q35Q	Substitution - coding silent	Urinary_tract
COSM4383949	c.4475A>G	p.E1492G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944243	c.1526_1530delCAGAA	p.E510fs*4	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM96489	c.5297_5298ins42	p.Y1677fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42028	c.3640C>T	p.R1214W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5708974	c.5347C>T	p.Q1783*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM110769	c.5612T>G	p.I1871S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685375	c.3619G>C	p.E1207Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944254	c.1005_1006delTG	p.A336fs*3	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5708975	c.5582G>A	p.G1861E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM42036	c.3571C>T	p.Q1191*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1235472	c.5167C>T	p.P1723S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM42074	c.4713_4714insGAGA	p.R1572fs*7	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM41709	c.4317_4318insA	p.R1440fs*38	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1716803	c.?	p.S714*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43413	c.?_?ins?	p.?fs	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5415908	c.?	p.L199*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5765489	c.5767G>A	p.E1923K	Substitution - Missense	Large_intestine
COSM5878984	c.2597_2616del20	p.Q866fs*28	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41644	c.1648C>T	p.R550*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5415910	c.?	p.E1319*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM2952829	c.5942A>G	p.D1981G	Substitution - Missense	Large_intestine
COSM4774908	c.1091G>A	p.G364D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41888	c.?	p.R1214W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM110772	c.4474G>T	p.E1492*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1716912	c.4678_4679insA	p.Y1560fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42016	c.4393C>T	p.R1465*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5487354	c.2749C>T	p.Q917*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383908	c.3594+1G>T	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM330643	c.?	p.G364fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5352336	c.?	p.A1865G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43440	c.1061C>G	p.S354*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43469	c.4071_4071delG	p.E1357fs*6	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM110778	c.4258_4264delTTATACA	p.L1420fs*26	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM120168	c.2185C>T	p.Q729*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4170053	c.4954C>T	p.Q1652*	Substitution - Nonsense	Pancreas
COSM4385582	c.2276_2277insT	p.P761fs*8	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5579709	c.315G>A	p.G105G	Substitution - coding silent	Skin
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM43413	c.?_?ins?	p.?fs	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3738469	c.?	p.G1869E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41644	c.1648C>T	p.R550*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41644	c.1648C>T	p.R550*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM87077	c.941_942insG	p.C314fs*17	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM130409	c.2116C>T	p.Q706*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43417	c.2746C>T	p.Q916*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM96930	c.865_865delG	p.A289fs*4	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4170132	c.2188_2189delAC	p.Q731fs*22	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5610829	c.2207C>T	p.S736L	Substitution - Missense	Skin
COSM4650031	c.2911G>T	p.E971*	Substitution - Nonsense	Large_intestine
COSM211671	c.2582_2582delA	p.N861fs*12	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87161	c.4138C>T	p.H1380Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM96486	c.1557_1557delT	p.F519fs*14	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87150	c.4082G>A	p.G1361D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41894	c.?	p.P1962L	Substitution - Missense	Skin
COSM4328563	c.5182G>T	p.E1728*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM43409	c.?	p.?fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM42022	c.?	p.H762fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43412	c.?_?del?	p.?fs	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4167282	c.?	p.V1833fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4828082	c.2281C>G	p.P761A	Substitution - Missense	Cervix
COSM120176	c.3813C>G	p.C1271W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41889	c.?	p.C1396W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM219140	c.1996_1997delGA	p.D666fs*14	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM53247	c.1379C>T	p.S460F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87081	c.1037_1038insAGCT	p.G349fs*3	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87173	c.4936_4937ins50	p.L1646fs*66	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3735046	c.4853_4856delACCC	p.Y1618fs*4	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM53137	c.?	p.N1743fs*17	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4766174	c.5734C>T	p.H1912Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43417	c.2746C>T	p.Q916*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43214	c.5541G>A	p.W1847*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM221607	c.4935T>G	p.Y1645*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM307762	c.?	p.Y867H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87070	c.434G>A	p.S145N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87163	c.4148_4148delG	p.R1383fs*65	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41706	c.4354C>T	p.R1452*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383905	c.3523A>T	p.I1175F	Substitution - Missense	Oesophagus
COSM4383937	c.4108G>A	p.G1370R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4987506	c.2861G>T	p.W954L	Substitution - Missense	Soft_tissue
COSM41895	c.5643T>G	p.H1881Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716802	c.?	p.Q591*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM53124	c.?	p.H1904Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41644	c.1648C>T	p.R550*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM53271	c.2447_2447delA	p.N816fs*8	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1716793	c.?	p.G1861fs*26	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM110767	c.4113_4120delCACTGCAT	p.T1372fs*26	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM53166	c.?	p.H1380Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87123	c.3604A>T	p.R1202*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM42037	c.4210C>T	p.R1404*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4766086	c.3996_3997insA	p.M1333fs*6	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5989910	c.5681C>G	p.P1894R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM120176	c.3813C>G	p.C1271W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87186	c.5645_5646delCC	p.A1882fs*9	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM420251	c.1397C>G	p.S466C	Substitution - Missense	Urinary_tract
COSM42084	c.1924C>T	p.Q642*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5708962	c.3458C>A	p.A1153E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4169526	c.?	p.P1552T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41649	c.4075C>T	p.R1359C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM85921	c.?_?delA	p.?fs*?	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM144517	c.2020C>T	p.Q674*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41850	c.1630C>T	p.R544*	Substitution - Nonsense	Endometrium
COSM41850	c.1630C>T	p.R544*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1426205	c.1040C>T	p.A347V	Substitution - Missense	Large_intestine
COSM3735043	c.3409+1G>T	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4170039	c.5127T>A	p.C1709*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM3738486	c.?	p.I873fs*28	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3735048	c.5203_5213del11	p.G1735fs*1	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM264006	c.2344G>T	p.E782*	Substitution - Nonsense	Large_intestine
COSM1169606	c.?	p.A912fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM53134	c.?	p.S716*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4596818	c.1568G>T	p.G523V	Substitution - Missense	Upper_aerodigestive_tract
COSM5879011	c.3409+3delA	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM87183	c.5603A>C	p.H1868P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1169694	c.?	p.Q323*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM307363	c.3058C>T	p.Q1020*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383930	c.3965T>G	p.L1322R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5944512	c.3371_3372insGT	p.K1125fs*13	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5945060	c.4334A>G	p.Q1445R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM110812	c.749_750insA	p.N250fs*4	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211640	c.5751G>A	p.W1917*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43486	c.1720_1720delC	p.Q574fs*6	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42055	c.4076G>A	p.R1359H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM42055	c.4076G>A	p.R1359H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716800	c.?	p.C1289F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1426211	c.2981A>G	p.H994R	Substitution - Missense	Large_intestine
COSM219075	c.?	p.E1222G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1318632	c.822delC	p.N275fs*18	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4121133	c.1982A>G	p.H661R	Substitution - Missense	Stomach
COSM43410	c.?_?del?	p.?del	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM42080	c.1348A>T	p.K450*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM258164	c.426C>T	p.S142S	Substitution - coding silent	Skin
COSM1309596	c.3316G>C	p.E1106Q	Substitution - Missense	Lung
COSM1618225	c.4618C>A	p.Q1540K	Substitution - Missense	Liver
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5415915	c.?	p.R1452fs	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5947327	c.3100C>T	p.Q1034*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211663	c.763C>T	p.Q255*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4385575	c.1814_1815insA	p.Y605fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43417	c.2746C>T	p.Q916*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5945057	c.4183-2A>G	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM41898	c.?	p.E368*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM42026	c.?	p.R1366H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1309590	c.2073T>G	p.T691T	Substitution - coding silent	Urinary_tract
COSM4992079	c.1388C>T	p.P463L	Substitution - Missense	Skin
COSM42052	c.1771C>T	p.Q591*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41213	c.1864C>T	p.Q622*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43420	c.4546C>T	p.R1516*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM110771	c.5111_5123del13	p.D1704fs*11	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1168033	c.3070_3110del41	p.I1024fs*5	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42029	c.3646C>T	p.R1216*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3824892	c.1966C>T	p.P656S	Substitution - Missense	Breast
COSM5577115	c.2606C>T	p.P869L	Substitution - Missense	Skin
COSM42050	c.4502_4505delAAAC	p.Q1501fs*69	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42041	c.1795_1798delCAAA	p.Q599fs*1	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4170042	c.2911G>A	p.E971K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41644	c.1648C>T	p.R550*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4169527	c.?	p.T1985I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53048	c.?	p.P1419R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43417	c.2746C>T	p.Q916*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM110749	c.685_686insA	p.T229fs*25	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383941	c.4160A>T	p.N1387I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM42016	c.4393C>T	p.R1465*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41989	c.4440_4440delC	p.S1481fs*90	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43420	c.4546C>T	p.R1516*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1716803	c.?	p.S714*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM53051	c.?	p.S1286P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53113	c.?	p.R1216Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3738482	c.?	p.P399fs*44	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41644	c.1648C>T	p.R550*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM249229	c.1567G>T	p.G523*	Substitution - Nonsense	Kidney
COSM1583045	c.?	p.K948fs*23	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM52011	c.?	p.S282F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383967	c.5508_5509delGG	p.A1837fs*8	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4766176	c.4396_4416del21	p.Q1466_K1472del	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM5065036	c.4657C>T	p.Q1553*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM87071	c.519_519delG	p.P174fs*9	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87161	c.4138C>T	p.H1380Y	Substitution - Missense	Oesophagus
COSM4385571	c.1683_1684insAA	p.P562fs*7	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42039	c.3866G>T	p.C1289F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4170099	c.2285_2286insC	p.Q764fs*5	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43442	c.5104C>T	p.Q1702*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4385609	c.5119_5120insGCAG	p.S1708fs*6	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM211647	c.?	p.C1135Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1228970	c.1056C>A	p.F352L	Substitution - Missense	Large_intestine
COSM3824896	c.4778G>A	p.S1593N	Substitution - Missense	Breast
COSM4385580	c.2252_2253insA	p.N752fs*2	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM241871	c.5117delT	p.F1706fs*13	Deletion - Frameshift	Prostate
COSM42061	c.1843_1844insG	p.L615fs*23	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1166762	c.3593delG	p.V1199fs*27	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3738502	c.?	p.E1279*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1644129	c.3890_3892delGAT	p.C1298del	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM43499	c.5693C>T	p.S1898F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87098	c.2218C>T	p.Q740*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4596816	c.1567G>C	p.G523R	Substitution - Missense	Upper_aerodigestive_tract
COSM43409	c.?	p.?fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM53170	c.?	p.Q1020fs*16	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM51995	c.?	p.G1313*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43412	c.?_?del?	p.?fs	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1049754	c.2337T>C	p.T779T	Substitution - coding silent	Endometrium
COSM4172347	c.684A>C	p.K228N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM307364	c.1226_1229delCTCC	p.P409fs*17	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87107	c.2604T>G	p.F868L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM110790	c.1602_1605delAAAC	p.N535fs*6	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4170121	c.2209_2210insA	p.H737fs*17	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM166838	c.5666C>T	p.P1889L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM110786	c.4884T>A	p.Y1628*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3719016	c.3643G>T	p.E1215*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3738487	c.?	p.H1881N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53159	c.?	p.P1194A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM219047	c.?	p.Q1532fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5944169	c.2764_2767delCATA	p.H922fs*30	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41742	c.5152G>T	p.V1718L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5020142	c.1088C>T	p.P363L	Substitution - Missense	Soft_tissue
COSM5945036	c.2872C>T	p.Q958*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4169545	c.?	p.L1111*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4167267	c.?	p.F1287L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87117	c.3409+1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM41644	c.1648C>T	p.R550*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43417	c.2746C>T	p.Q916*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5944519	c.4852_4853insA	p.Y1618fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1738138	c.?	p.T221fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43412	c.?_?del?	p.?fs	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4733145	c.286C>T	p.R96C	Substitution - Missense	Large_intestine
COSM1169689	c.?	p.D1242fs*11	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1658758	c.3356T>G	p.L1119*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211717	c.3662G>A	p.C1221Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM132898	c.5038C>T	p.Q1680*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211685	c.2000_2001insGACCA	p.H667fs*35	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211628	c.4838_4839delAT	p.N1613fs*47	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5708969	c.4043A>C	p.Q1348P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583047	c.?	p.L225fs*23	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4167250	c.?	p.S890A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM96487	c.3808A>C	p.T1270P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM88809	c.?	p.L426fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4166143	c.2256_2259delTAAA	p.N752fs*60	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41742	c.5152G>T	p.V1718L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3719379	c.3149C>A	p.S1050*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM110795	c.?	p.N789fs*13	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM100068	c.3955-2delA	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1049741	c.304_305delTC	p.S104fs*15	Deletion - Frameshift	Endometrium
COSM5944496	c.1892_1893insA	p.Q632fs*6	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5751542	c.722_723insT	p.V242fs*12	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3598858	c.2044C>T	p.H682Y	Substitution - Missense	Skin
COSM87091	c.1847_1848insC	p.R617fs*21	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1014823	c.2063A>G	p.D688G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1168025	c.2200C>T	p.Q734*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383863	c.2646C>A	p.C882*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5878920	c.119T>C	p.L40P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5945065	c.4553C>G	p.S1518*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4766087	c.2263G>T	p.E755*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM146006	c.4688C>T	p.S1563F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM42052	c.1771C>T	p.Q591*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5945048	c.3818G>T	p.C1273F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1015786	c.73T>C	p.C25R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1228962	c.803C>T	p.S268L	Substitution - Missense	Skin
COSM4385592	c.3102_3103insT	p.H1036fs*7	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383829	c.2056A>T	p.R686*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5782785	c.3795G>A	p.L1265L	Substitution - coding silent	Breast
COSM53140	c.?	p.R550*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41890	c.?	p.I1873T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87151	c.4087A>T	p.K1363*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM87132	c.3787T>G	p.C1263G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM110794	c.368_368delG	p.R123fs*5	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5944492	c.1171_1172insT	p.S391fs*52	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3735045	c.4599_4600delGC	p.Q1534fs*43	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41901	c.?	p.R1216*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM43117	c.1_6009del6009	p.0?	Whole gene deletion	Haematopoietic_and_lymphoid_tissue
COSM3598856	c.1463A>G	p.N488S	Substitution - Missense	Skin
COSM87192	c.5885C>T	p.P1962L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53049	c.?	p.R1440fs*40	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87161	c.4138C>T	p.H1380Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5931556	c.2305C>T	p.Q769*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43439	c.2224C>T	p.Q742*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4759845	c.1834C>T	p.P612S	Substitution - Missense	Stomach
COSM307363	c.3058C>T	p.Q1020*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM87187	c.5665_5670delCCCAAT	p.P1889_N1890del	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM211702	c.3176C>G	p.S1059*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43413	c.?_?ins?	p.?fs	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM53238	c.?	p.Q1138*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211643	c.3782G>A	p.R1261H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716773	c.1912A>G	p.M638V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4766102	c.1169_1169delA	p.D390fs*37	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383875	c.2809C>G	p.H937D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM211613	c.2626C>T	p.Q876*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211721	c.3812G>C	p.C1271S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87147	c.4044+1G>T	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM87074	c.640_641insT	p.S214fs*11	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4150402	c.3822G>C	p.Q1274H	Substitution - Missense	Ovary
COSM42048	c.3312_3312delT	p.F1104fs*2	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM110769	c.5612T>G	p.I1871S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1660183	c.4186T>C	p.C1396R	Substitution - Missense	Kidney
COSM42016	c.4393C>T	p.R1465*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM42016	c.4393C>T	p.R1465*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5720268	c.5665C>T	p.P1889S	Substitution - Missense	Skin
COSM4383907	c.3581C>T	p.P1194L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM293694	c.601delA	p.N202fs*5	Deletion - Frameshift	Large_intestine
COSM4170140	c.2145_2146delCT	p.S716fs*6	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41850	c.1630C>T	p.R544*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41878	c.1147C>T	p.Q383*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM42011	c.5615T>C	p.L1872P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5941243	c.100C>T	p.L34F	Substitution - Missense	Skin
COSM41644	c.1648C>T	p.R550*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211625	c.4457C>G	p.S1486*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41846	c.?	p.R544*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM327114	c.2643G>A	p.R881R	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM4385588	c.2490_2491insAATA	p.Q831fs*16	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42088	c.4664_4665delAG	p.E1555fs*22	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4835502	c.3718C>T	p.L1240L	Substitution - coding silent	Cervix
COSM43446	c.2428C>T	p.Q810*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383792	c.1255delC	p.P419fs*8	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM85917	c.2227C>T	p.Q743*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3720051	c.2113C>T	p.Q705*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5878930	c.729_730insA	p.T245fs*9	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4167245	c.?	p.H629fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4169534	c.?	p.E1879*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1049752	c.2038A>G	p.R680G	Substitution - Missense	Endometrium
COSM43412	c.?_?del?	p.?fs	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5708967	c.3974_3975insT	p.L1326fs*13	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1426219	c.4352G>A	p.R1451Q	Substitution - Missense	Large_intestine
COSM43488	c.4478_4478delA	p.K1493fs*78	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41906	c.3623_3623delA	p.K1208fs*18	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3760322	c.5284A>G	p.I1762V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4766173	c.5390_5390delT	p.L1797fs*23	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383861	c.2632delC	p.L878fs*43	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM96484	c.3430G>A	p.E1144K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM42037	c.4210C>T	p.R1404*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM42076	c.5554C>T	p.Q1852*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4766092	c.3499_3501delAGG	p.R1167del	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM43417	c.2746C>T	p.Q916*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM42016	c.4393C>T	p.R1465*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM52008	c.?	p.G1370V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM46460	c.2984_2985insA	p.A996fs*13	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211707	c.565_565delA	p.S189fs*18	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM2270970	c.4566_4567insG	p.Q1523fs*55	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM2270973	c.398_398delC	p.P133fs*12	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5944137	c.846_847insCT	p.E283fs*11	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41992	c.3138_3138delT	p.T1047fs*8	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87094	c.2000_2016>C	p.H667fs*28	Complex - frameshift	Haematopoietic_and_lymphoid_tissue
COSM5794149	c.4108G>C	p.G1370R	Substitution - Missense	Breast
COSM5878947	c.1294G>T	p.E432*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM53106	c.?	p.T1726fs*18	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42016	c.4393C>T	p.R1465*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5582747	c.4972C>T	p.L1658L	Substitution - coding silent	Skin
COSM1318620	c.3344delC	p.P1115fs*2	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5743030	c.3364A>G	p.T1122A	Substitution - Missense	Small_intestine
COSM1716772	c.?	p.Q916*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM43413	c.?_?ins?	p.?fs	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM52006	c.?	p.G613fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1735762	c.2737C>T	p.Q913*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5879032	c.4080_4081GG>C	p.G1361fs*2	Complex - frameshift	Haematopoietic_and_lymphoid_tissue
COSM42047	c.1954C>T	p.Q652*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM97077	c.?	p.G1719R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41741	c.5618T>C	p.I1873T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM327337	c.2599T>C	p.Y867H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4170156	c.2513delC	p.T838fs*3	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4166142	c.1581_1581delC	p.D527fs*6	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4172350	c.5253_5254insA	p.N1753fs*3	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383955	c.4786delA	p.N1596fs*14	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5878951	c.1591C>T	p.Q531*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5945050	c.3954+1G>T	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM3598866	c.3024G>A	p.K1008K	Substitution - coding silent	Skin
COSM41736	c.1526C>G	p.S509*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5944132	c.3594G>A	p.W1198*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3974651	c.2795A>G	p.D932G	Substitution - Missense	Central_nervous_system
COSM53060	c.?	p.N801fs*16	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87170	c.4317_4317delA	p.K1439fs*9	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41741	c.5618T>C	p.I1873T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM46456	c.1669C>T	p.Q557*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4441497	c.1318C>G	p.Q440E	Substitution - Missense	Large_intestine
COSM4169536	c.?	p.N1260S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM41995	c.2570_2570delA	p.N857fs*16	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211729	c.4064C>T	p.A1355V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1737944	c.2604_2604delT	p.P869fs*4	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1737944	c.2604_2604delT	p.P869fs*4	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM53143	c.?	p.V1862fs*24	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41736	c.1526C>G	p.S509*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3735040	c.285_285delA	p.K95fs*18	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM307763	c.?	p.S794*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM42039	c.3866G>T	p.C1289F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41741	c.5618T>C	p.I1873T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1015786	c.73T>C	p.C25R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3738500	c.?	p.Y1245C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2270968	c.5412_5413insT	p.N1805fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42037	c.4210C>T	p.R1404*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41748	c.5687G>T	p.R1896M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5879040	c.4935T>A	p.Y1645*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3738470	c.?	p.P1419fs*29	Unknown	Haematopoietic_and_lymphoid_tissue
COSM53126	c.?	p.Q726*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM110776	c.3760A>T	p.K1254*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3408965	c.802T>G	p.S268A	Substitution - Missense	Central_nervous_system
COSM2270976	c.2176C>T	p.Q726*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4167258	c.?	p.K1142T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41911	c.5911C>T	p.L1971F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41740	c.4913C>A	p.S1638*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4169860	c.2230C>T	p.Q744*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383945	c.4191delT	p.L1398fs*50	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM2270962	c.4052_4053insA	p.Y1351fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42016	c.4393C>T	p.R1465*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5945041	c.3578G>C	p.C1193S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87135	c.3818G>C	p.C1273S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87111	c.2878C>T	p.Q960*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM87122	c.3594+3A>G	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM110753	c.1930C>T	p.Q644*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383933	c.4012A>T	p.K1338*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1169678	c.?	p.M993fs*15	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5990101	c.781delT	p.S261fs*32	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87125	c.3643_3644insG	p.E1215fs*8	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5422731	c.4528C>G	p.Q1510E	Substitution - Missense	Prostate
COSM97087	c.3894T>G	p.C1298W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383867	c.2689delC	p.Q897fs*24	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM110755	c.5539_5541TGG>A	p.W1847fs*11	Complex - frameshift	Haematopoietic_and_lymphoid_tissue
COSM42040	c.4240C>T	p.Q1414*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41705	c.3593G>A	p.W1198*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM42037	c.4210C>T	p.R1404*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5586781	c.1754C>T	p.S585L	Substitution - Missense	Skin
COSM5945036	c.2872C>T	p.Q958*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5945071	c.5615T>G	p.L1872R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41708	c.4570C>T	p.Q1524*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM166413	c.?	p.P1681fs*2	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1018323	c.4594C>T	p.Q1532*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3738483	c.?	p.H1386fs*15	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM53160	c.?	p.C1273F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2270963	c.3852_3854delCTT	p.F1285del	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM42016	c.4393C>T	p.R1465*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1169607	c.?	p.Q866*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43470	c.?del?	p.T1554fs	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5944520	c.5028_5029insCCAA	p.T1677fs*11	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5737047	c.680_681insA	p.T229fs*25	Insertion - Frameshift	Small_intestine
COSM100057	c.2768_2769insCATA	p.H924fs*10	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41731	c.4_4delG	p.E2fs*13	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87118	c.3448_3448delC	p.H1150fs*2	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43420	c.4546C>T	p.R1516*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM42037	c.4210C>T	p.R1404*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5752071	c.1975_1976insT	p.Q659fs*22	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5762963	c.3818G>A	p.C1273Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5985195	c.4757C>G	p.S1586*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41743	c.1892C>G	p.S631*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211646	c.3461G>A	p.G1154D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4479414	c.2321C>T	p.S774L	Substitution - Missense	Skin
COSM96488	c.3820C>T	p.Q1274*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1737887	c.507_508delTA	p.H169fs*6	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42020	c.4870C>T	p.Q1624*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41741	c.5618T>C	p.I1873T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM110751	c.3735C>A	p.Y1245*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43490	c.1664_1665insC	p.T556fs*11	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM100077	c.1441C>T	p.Q481*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41850	c.1630C>T	p.R544*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM258164	c.426C>T	p.S142S	Substitution - coding silent	Large_intestine
COSM1318613	c.4317delA	p.K1439fs*9	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42029	c.3646C>T	p.R1216*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5479692	c.278G>A	p.G93E	Substitution - Missense	Large_intestine
COSM5793548	c.5919A>G	p.E1973E	Substitution - coding silent	Breast
COSM211729	c.4064C>T	p.A1355V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5065036	c.4657C>T	p.Q1553*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5945657	c.2288C>T	p.P763L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5989796	c.364A>T	p.R122*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4766110	c.5301_5301delT	p.S1767fs*53	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87177	c.5219T>G	p.L1740*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM144543	c.3661T>C	p.C1221R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5945055	c.4135G>C	p.A1379P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1724981	c.3851delC	p.F1285fs*78	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM53247	c.1379C>T	p.S460F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41848	c.?	p.G1275E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87104	c.2474C>G	p.S825*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1318616	c.4141_4142insG	p.A1381fs*20	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1426221	c.5831C>T	p.S1944F	Substitution - Missense	Large_intestine
COSM4170158	c.4521delG	p.A1508fs*63	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383951	c.4497_4500delAAAA	p.Q1501fs*69	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM307762	c.?	p.Y867H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41741	c.5618T>C	p.I1873T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41741	c.5618T>C	p.I1873T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43445	c.5642A>G	p.H1881R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM100067	c.783_783delC	p.C262fs*31	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3824897	c.5081T>C	p.L1694S	Substitution - Missense	Breast
COSM4170097	c.2551delC	p.P851fs*22	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5623256	c.3473C>A	p.A1158E	Substitution - Missense	Oesophagus
COSM5944244	c.3816_3820delCTGTC	p.C1273fs*25	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1735762	c.2737C>T	p.Q913*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM87141	c.3954+1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM43417	c.2746C>T	p.Q916*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5369885	c.?	p.G805*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4635067	c.712G>A	p.V238I	Substitution - Missense	Large_intestine
COSM43457	c.3508C>T	p.Q1170*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM42016	c.4393C>T	p.R1465*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5878941	c.1174delT	p.S393fs*34	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM235698	c.3278_3281delCCAA	p.T1093fs*12	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41741	c.5618T>C	p.I1873T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1015786	c.73T>C	p.C25R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5990095	c.2074delG	p.E692fs*8	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43490	c.1664_1665insC	p.T556fs*11	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87145	c.4011T>A	p.Y1337*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM144517	c.2020C>T	p.Q674*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4170119	c.4355_4356insA	p.V1454fs*24	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383915	c.3722C>A	p.A1241D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3738498	c.?	p.T1280I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41737	c.3859T>C	p.F1287L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43417	c.2746C>T	p.Q916*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3735001	c.?	p.T270fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM164861	c.1366G>A	p.E456K	Substitution - Missense	Breast
COSM4733149	c.2851G>T	p.A951S	Substitution - Missense	Large_intestine
COSM3598848	c.137C>T	p.P46L	Substitution - Missense	Skin
COSM211751	c.5711A>G	p.H1904R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41902	c.?	p.K1911_L1916del	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM43442	c.5104C>T	p.Q1702*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3719516	c.3730_3731delCT	p.Y1245fs*22	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5944272	c.2657delA	p.Q886fs*35	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43463	c.?_?ins5	p.L560fs*?	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM231578	c.1037T>C	p.L346P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4170029	c.4621C>T	p.Q1541*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5989993	c.4490C>A	p.S1497*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43441	c.1819G>T	p.G607*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM42015	c.5647_5647delA	p.T1883fs*4	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1731713	c.3986T>G	p.L1329R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41731	c.4_4delG	p.E2fs*13	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM53053	c.?	p.F797fs*18	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41213	c.1864C>T	p.Q622*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211693	c.2800G>T	p.G934*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM43413	c.?_?ins?	p.?fs	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41891	c.?	p.R1261L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM211718	c.3743T>C	p.L1248P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53149	c.?	p.Y1631fs*28	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1169686	c.?	p.Q810*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM120176	c.3813C>G	p.C1271W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM307763	c.?	p.S794*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5995719	c.665A>T	p.H222L	Substitution - Missense	Prostate
COSM1716790	c.1439_1439delC	p.P480fs*6	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43420	c.4546C>T	p.R1516*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM110789	c.4634_4635AG>C	p.Q1545fs*26	Complex - frameshift	Haematopoietic_and_lymphoid_tissue
COSM87130	c.3781C>T	p.R1261C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM211666	c.1960C>T	p.Q654*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1618224	c.3554A>C	p.K1185T	Substitution - Missense	Liver
COSM211682	c.1506_1506delT	p.E503fs*30	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5060044	c.931C>T	p.L311L	Substitution - coding silent	Stomach
COSM43432	c.1471_1471delC	p.Q491fs*6	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3760322	c.5284A>G	p.I1762V	Substitution - Missense	Prostate
COSM42039	c.3866G>T	p.C1289F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1717483	c.5415C>T	p.N1805N	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM5989826	c.5620G>C	p.E1874Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87112	c.2896C>T	p.Q966*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1716884	c.1945C>T	p.Q649*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4170097	c.2551delC	p.P851fs*22	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5762962	c.3380_3381insG	p.Y1128fs*2	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5944510	c.3305_3306insAGG	p.N1102>KG	Complex - insertion inframe	Haematopoietic_and_lymphoid_tissue
COSM219067	c.?	p.G1256A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5708963	c.3500G>T	p.R1167M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41644	c.1648C>T	p.R550*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3720607	c.2715_2716insA	p.M906fs*18	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43417	c.2746C>T	p.Q916*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4170058	c.2659G>T	p.E887*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4167281	c.?	p.H1792fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4434676	c.4993_4994insGACC	p.D1665fs*6	Insertion - Frameshift	Oesophagus
COSM4383786	c.1235delT	p.P413fs*14	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42016	c.4393C>T	p.R1465*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5944514	c.3845_3846insTGC	p.A1283_S1284insA	Insertion - In frame	Haematopoietic_and_lymphoid_tissue
COSM5989604	c.5601_5602insCAT	p.H1868_G1869insH	Insertion - In frame	Haematopoietic_and_lymphoid_tissue
COSM87085	c.1240C>T	p.Q414*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM87104	c.2474C>G	p.S825*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5415913	c.?	p.W1198*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM130410	c.?_?del10	p.V1395fs	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211689	c.2280_2280delT	p.P761fs*52	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4766124	c.4160A>G	p.N1387S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3735004	c.?	p.Q129K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1169610	c.?	p.N844fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41846	c.?	p.R544*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43424	c.3725A>T	p.D1242V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4170138	c.3763_3767delTACGG	p.Y1255fs*11	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42016	c.4393C>T	p.R1465*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM42012	c.1974_1975delCC	p.H658fs*22	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5751628	c.2334_2335insT	p.T779fs*2	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4169530	c.?	p.R1359C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2270960	c.2123C>G	p.S708*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5989685	c.3954G>A	p.E1318E	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM41741	c.5618T>C	p.I1873T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87083	c.1137_1138TT>C	p.Y380fs*47	Complex - frameshift	Haematopoietic_and_lymphoid_tissue
COSM4170050	c.3409+2T>G	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4454205	c.433A>T	p.S145C	Substitution - Missense	Skin
COSM4625209	c.948T>A	p.F316L	Substitution - Missense	Large_intestine
COSM4167250	c.?	p.S890A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41995	c.2570_2570delA	p.N857fs*16	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM329085	c.4513G>A	p.A1505T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2270975	c.4139A>G	p.H1380R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM221609	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM42049	c.4151A>T	p.D1384V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41705	c.3593G>A	p.W1198*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3365444	c.4168A>C	p.N1390H	Substitution - Missense	Kidney
COSM43465	c.1825_1825delT	p.S609fs*30	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4121123	c.1177T>G	p.S393A	Substitution - Missense	Stomach
COSM4383849	c.2352delT	p.H786fs*27	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5879043	c.5209delA	p.T1737fs*8	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43117	c.1_6009del6009	p.0?	Whole gene deletion	Haematopoietic_and_lymphoid_tissue
COSM1664530	c.4214A>T	p.E1405V	Substitution - Missense	Kidney
COSM42028	c.3640C>T	p.R1214W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1633400	c.466C>T	p.Q156*	Substitution - Nonsense	Liver
COSM100069	c.2271_2277delCCAGACT	p.Q758fs*53	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42020	c.4870C>T	p.Q1624*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383817	c.1588C>T	p.Q530*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43420	c.4546C>T	p.R1516*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43499	c.5693C>T	p.S1898F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM166835	c.3947delC	p.P1316fs*47	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1426221	c.5831C>T	p.S1944F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41707	c.4676_4677insA	p.Y1560fs*18	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5443811	c.4309G>A	p.E1437K	Substitution - Missense	Oesophagus
COSM43417	c.2746C>T	p.Q916*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211680	c.1423_1423delA	p.M475fs*11	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM96925	c.4567C>T	p.Q1523*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM87097	c.2176_2179delCAGG	p.A727fs*23	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM219137	c.3431A>C	p.E1144A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4121119	c.558G>A	p.E186E	Substitution - coding silent	Stomach
COSM1716886	c.3769_3770ins11	p.R1262fs*8	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3760322	c.5284A>G	p.I1762V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5945042	c.3581C>G	p.P1194R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383964	c.5254delA	p.N1753fs*10	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1741218	c.5183_5184insCATG	p.E1728fs*13	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1716790	c.1439_1439delC	p.P480fs*6	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4385610	c.5216_5217insT	p.R1739fs*14	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4603886	c.3410-9delT	p.?	Unknown	Upper_aerodigestive_tract
COSM4766170	c.5269_5269delC	p.H1757fs*6	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43499	c.5693C>T	p.S1898F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87075	c.688_689delCT	p.L230fs*23	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41706	c.4354C>T	p.R1452*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383943	c.4177A>G	p.T1393A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878943	c.1190_1192delCAC	p.P401delP	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM5990096	c.3919delA	p.R1307fs*56	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM41887	c.?	p.G1913D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM132896	c.(3136_3138)insA	p.?fs	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM144540	c.1909_1911GAA>AT	p.E637fs*2	Complex - frameshift	Haematopoietic_and_lymphoid_tissue
COSM1716595	c.4572_4572G>CT	p.Q1524fs*54	Complex - frameshift	Haematopoietic_and_lymphoid_tissue
COSM42028	c.3640C>T	p.R1214W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43502	c.2671C>T	p.Q891*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4166532	c.?	p.C1298T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1049761	c.4269C>A	p.V1423V	Substitution - coding silent	Endometrium
COSM1738044	c.?	p.L1046fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM110759	c.4015A>T	p.K1339*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211666	c.1960C>T	p.Q654*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211741	c.4910_4911ins52	p.S1638fs*40	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42029	c.3646C>T	p.R1216*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM42037	c.4210C>T	p.R1404*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4167262	c.?	p.G1235*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4170167	c.1862delC	p.Q622fs*17	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41652	c.5999G>A	p.R2000K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43414	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4170114	c.2765_2766insTT	p.N923fs*31	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1716807	c.?	p.Q1547*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM120176	c.3813C>G	p.C1271W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53142	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM87169	c.4249G>T	p.V1417F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41742	c.5152G>T	p.V1718L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1169607	c.?	p.Q866*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383776	c.1021C>T	p.Q341*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM42083	c.3199A>T	p.R1067*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5415901	c.?	p.L1229R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43490	c.1664_1665insC	p.T556fs*11	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1753466	c.2125G>A	p.E709K	Substitution - Missense	Urinary_tract
COSM211643	c.3782G>A	p.R1261H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87192	c.5885C>T	p.P1962L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5879049	c.5479A>T	p.K1827*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM87143	c.4005_4009AACAT>TG	p.T1336_Y1337>D	Complex - deletion inframe	Haematopoietic_and_lymphoid_tissue
COSM5944246	c.780delG	p.L260fs*33	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5967240	c.?	p.Q273*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383847	c.2320T>A	p.S774T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM211641	c.1496_1496delC	p.P499fs*34	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4471231	c.1707C>T	p.A569A	Substitution - coding silent	Skin
COSM42054	c.958G>T	p.E320*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383973	c.5680C>A	p.P1894T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144513	c.1887_1887delC	p.H629fs*10	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM53140	c.?	p.R550*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43409	c.?	p.?fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM120172	c.4251_4252insTT	p.L1418fs*31	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4385563	c.369_370insT	p.N124fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4170123	c.1019_1020insC	p.Q341fs*10	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4169860	c.2230C>T	p.Q744*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM51997	c.?	p.S1292R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3719484	c.4680delT	p.S1561fs*10	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5879034	c.4104C>G	p.F1368L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87169	c.4249G>T	p.V1417F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1737882	c.3578G>A	p.C1193Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383803	c.1355delA	p.E452fs*34	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM96928	c.(1176_1179)insT	p.(S393_A394)fs*(49_50)	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87166	c.4183+2_4183+3insT	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM211753	c.5939_5940delCA	p.T1980fs*24	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1238051	c.5416C>T	p.H1806Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM42029	c.3646C>T	p.R1216*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4169906	c.3796A>C	p.N1266H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4170129	c.5499delC	p.Q1834fs*53	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383823	c.1776T>G	p.Y592*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4169860	c.2230C>T	p.Q744*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM307760	c.?	p.Q403*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1716799	c.?	p.Q317fs*30	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4166530	c.?	p.S1059fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41649	c.4075C>T	p.R1359C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53247	c.1379C>T	p.S460F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53248	c.3803+2_3803+3insT	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM100065	c.4663_4664insA	p.S1556fs*22	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4170100	c.5172delT	p.T1726fs*19	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4766123	c.2475_2475delA	p.S826fs*15	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4766162	c.3074_3074delT	p.I1025fs*8	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5879039	c.4834_4835delTC	p.S1612fs*1	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4956768	c.749A>G	p.N250S	Substitution - Missense	Liver
COSM1318617	c.4060_4061delAG	p.R1354fs*46	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1618223	c.1241A>T	p.Q414L	Substitution - Missense	Liver
COSM53054	c.?	p.L862fs*8	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1685380	c.5897G>A	p.R1966H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87087	c.1747G>T	p.E583*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5878980	c.2525C>G	p.S842*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211612	c.2171_2172delAT	p.H724fs*29	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1737883	c.3635_3635delT	p.L1212fs*14	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5415899	c.?	p.Y1337*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383920	c.3821A>G	p.Q1274R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43504	c.2290_2291insC	p.Q764fs*5	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43417	c.2746C>T	p.Q916*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1738043	c.?	p.Q749fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3824894	c.2147C>T	p.S716L	Substitution - Missense	Breast
COSM5944282	c.3088delC	p.Q1030fs*3	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1168022	c.1290_1291TT>G	p.L431fs*1	Complex - frameshift	Haematopoietic_and_lymphoid_tissue
COSM5627118	c.4045-1G>A	p.?	Unknown	Oesophagus
COSM41710	c.4723_4745del23	p.P1575fs*31	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42034	c.4183-1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM42075	c.3965T>C	p.L1322P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM211613	c.2626C>T	p.Q876*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM100070	c.2887C>T	p.Q963*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5990102	c.4784delT	p.M1595fs*15	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3720051	c.2113C>T	p.Q705*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5878924	c.480_481insA	p.D162fs*9	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5945011	c.103C>T	p.Q35*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41644	c.1648C>T	p.R550*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41644	c.1648C>T	p.R550*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM97190	c.2079_2079delA	p.K693fs*7	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4167244	c.?	p.L541*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1166667	c.4639C>T	p.Q1547*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5564331	c.3784C>T	p.R1262W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM42018	c.3501-1G>T	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM53134	c.?	p.S716*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM53279	c.5449C>A	p.H1817N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43422	c.3309_3310delTT	p.F1104fs*25	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43442	c.5104C>T	p.Q1702*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43522	c.3404_3405insG	p.C1135fs*7	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM100077	c.1441C>T	p.Q481*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4385606	c.4760_4761insT	p.I1588fs*26	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5762966	c.5501_5514del14	p.Q1834fs*7	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43409	c.?	p.?fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41709	c.4317_4318insA	p.R1440fs*38	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41709	c.4317_4318insA	p.R1440fs*38	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM53133	c.?	p.Q888*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41744	c.2449T>A	p.S817T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM329085	c.4513G>A	p.A1505T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41644	c.1648C>T	p.R550*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211632	c.5609C>T	p.S1870L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53269	c.4705_4706delTA	p.Y1569fs*8	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211754	c.1993_1994insAA	p.T665fs*36	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42055	c.4076G>A	p.R1359H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM42016	c.4393C>T	p.R1465*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM166836	c.5588C>A	p.A1863D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43446	c.2428C>T	p.Q810*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM219143	c.4112T>A	p.V1371D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144515	c.4615C>T	p.Q1539*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211749	c.5608T>C	p.S1870P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM42032	c.4978A>G	p.R1660G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM42082	c.2999_2999delA	p.N1000fs*7	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5415912	c.?	p.R1261P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41900	c.?	p.C1271*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM87117	c.3409+1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM53237	c.?	p.R1878H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1644130	c.1954_1954delC	p.Q652fs*48	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM221606	c.2362G>A	p.E788K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43417	c.2746C>T	p.Q916*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1192920	c.4645_4646insAGC	p.Q1548_P1549insQ	Insertion - In frame	Lung
COSM87161	c.4138C>T	p.H1380Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1168034	c.3426_3426delA	p.D1143fs*9	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383952	c.4519C>T	p.Q1507*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5945069	c.5543C>G	p.S1848*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM110763	c.256_257insT	p.S86fs*14	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4170106	c.3811_3812insG	p.C1271fs*29	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4766086	c.3996_3997insA	p.M1333fs*6	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3738503	c.?	p.P409fs*33	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211690	c.2422_2422delG	p.E808fs*5	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87141	c.3954+1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5879053	c.5896C>T	p.R1966C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43424	c.3725A>T	p.D1242V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4427469	c.1925A>G	p.Q642R	Substitution - Missense	Oesophagus
COSM52011	c.?	p.S282F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5945070	c.5588C>T	p.A1863V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM120167	c.2362G>T	p.E788*	Substitution - Nonsense	Kidney
COSM87148	c.4044+2_4044+3insT	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5944293	c.4791delC	p.Y1598fs*12	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1169694	c.?	p.Q323*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM42070	c.5650A>G	p.T1884A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41645	c.3157C>T	p.Q1053*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383965	c.5374C>T	p.H1792Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5417519	c.?	p.M376fs*1	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43117	c.1_6009del6009	p.0?	Whole gene deletion	Haematopoietic_and_lymphoid_tissue
COSM5945026	c.2233C>T	p.Q745*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM42047	c.1954C>T	p.Q652*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211735	c.4600C>T	p.Q1534*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM87161	c.4138C>T	p.H1380Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383953	c.4662_4663delAG	p.E1555fs*22	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4170173	c.2706delA	p.N903fs*18	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1426218	c.4305G>T	p.Q1435H	Substitution - Missense	Large_intestine
COSM5442922	c.980C>G	p.S327*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211738	c.4807C>T	p.Q1603*	Substitution - Nonsense	Breast
COSM42037	c.4210C>T	p.R1404*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4170150	c.393delA	p.N132fs*13	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5708966	c.3955G>T	p.E1319*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5944504	c.2735_2736insG	p.Q913fs*11	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5945017	c.1369G>A	p.A457T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716804	c.?	p.Q1852*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM3428024	c.3569C>A	p.S1190Y	Substitution - Missense	Large_intestine
COSM5708964	c.3574G>A	p.G1192R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM42013	c.5456T>G	p.L1819*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211709	c.600_601insT	p.K201fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43420	c.4546C>T	p.R1516*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43478	c.(1842_1844)insG	p.L615fs*23	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41706	c.4354C>T	p.R1452*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41706	c.4354C>T	p.R1452*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1049748	c.1573C>A	p.L525I	Substitution - Missense	Endometrium
COSM5878968	c.2072_2081del10	p.T691fs*6	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41747	c.3897G>C	p.K1299N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41901	c.?	p.R1216*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM42025	c.?	p.R1465*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4167250	c.?	p.S890A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41709	c.4317_4318insA	p.R1440fs*38	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4121139	c.3409+2T>C	p.?	Unknown	Stomach
COSM4383931	c.3979C>T	p.Q1327*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM42047	c.1954C>T	p.Q652*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5878928	c.680delA	p.T229fs*21	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211626	c.4510_4528del19	p.N1504fs*61	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM219141	c.1972_1972delC	p.H658fs*42	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383764	c.675delC	p.L226fs*24	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43446	c.2428C>T	p.Q810*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43509	c.5172T>G	p.Y1724*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1018322	c.3589_3594delAAGTGG	p.K1197_W1198del	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM4170144	c.4730_4731delGT	p.S1577fs*36	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3598858	c.2044C>T	p.H682Y	Substitution - Missense	Skin
COSM3598858	c.2044C>T	p.H682Y	Substitution - Missense	Skin
COSM4383859	c.2533delA	p.E846fs*27	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4167254	c.?	p.P1013fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1169687	c.?	p.S1630*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM87117	c.3409+1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5708968	c.4011delT	p.Y1337fs*1	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM219142	c.481_482insT	p.K161fs*10	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM221609	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM42016	c.4393C>T	p.R1465*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41705	c.3593G>A	p.W1198*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1015786	c.73T>C	p.C25R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM42062	c.4266_4267insAA	p.V1423fs*26	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41647	c.?	p.E1234G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43420	c.4546C>T	p.R1516*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM53277	c.3205_3205delA	p.T1069fs*13	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM110811	c.5401C>T	p.L1801F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5989726	c.3876C>A	p.S1292R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53050	c.?	p.P1575fs*33	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43409	c.?	p.?fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41998	c.1955_1955delA	p.Q652fs*48	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1694770	c.980C>T	p.S327L	Substitution - Missense	Skin
COSM53135	c.?	p.F1377fs*22	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5523998	c.1172C>T	p.S391F	Substitution - Missense	Skin
COSM5879020	c.3743T>G	p.L1248R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87121	c.3535_3536insA	p.R1179fs*7	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1685381	c.1973A>C	p.H658P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5415902	c.?	p.N275S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1737886	c.5252_5252delA	p.Y1751fs*12	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4167237	c.?	p.E135fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87102	c.2443_2444insAT	p.R815fs*10	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM200502	c.829G>A	p.A277T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5879017	c.3707T>A	p.I1236N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5912147	c.1375C>T	p.P459S	Substitution - Missense	Skin
COSM4166529	c.?	p.E1029*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM53131	c.?	p.Q1699*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM166304	c.2571_2572insAAAC	p.T859fs*14	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383927	c.3929A>C	p.K1310T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4158735	c.1460G>T	p.R487M	Substitution - Missense	Thyroid
COSM1685384	c.?_?del?	p.?fs*?	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4169860	c.2230C>T	p.Q744*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41651	c.3665A>G	p.E1222G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43446	c.2428C>T	p.Q810*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1658758	c.3356T>G	p.L1119*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383897	c.3309delT	p.F1104fs*2	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1169691	c.?	p.S1190fs*3	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4834225	c.3144C>G	p.L1048L	Substitution - coding silent	Cervix
COSM87130	c.3781C>T	p.R1261C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41850	c.1630C>T	p.R544*	Substitution - Nonsense	Large_intestine
COSM43409	c.?	p.?fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM53165	c.?	p.P555fs*5	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM144508	c.803C>G	p.S268W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM211713	c.3532G>T	p.E1178*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM87099	c.2236C>T	p.Q746*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211726	c.3980A>C	p.Q1327P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM88808	c.?	p.G1288D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM211728	c.3965T>A	p.L1322Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM97088	c.4667C>A	p.S1556Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM100076	c.1777C>T	p.Q593*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM87139	c.3908G>A	p.S1303N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4170060	c.3781C>A	p.R1261S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4167275	c.?	p.N1489fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43409	c.?	p.?fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM329085	c.4513G>A	p.A1505T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4766174	c.5734C>T	p.H1912Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM166291	c.5681C>T	p.P1894L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM100056	c.2332C>T	p.Q778*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM100074	c.2742_2742delT	p.A915fs*6	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87162	c.4144C>T	p.H1382Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41909	c.4072T>G	p.C1358G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2952794	c.3888T>C	p.N1296N	Substitution - coding silent	Large_intestine
COSM1015786	c.73T>C	p.C25R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41741	c.5618T>C	p.I1873T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43409	c.?	p.?fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41644	c.1648C>T	p.R550*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5400250	c.257C>T	p.S86F	Substitution - Missense	Skin
COSM4170143	c.3390delC	p.P1131fs*6	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87161	c.4138C>T	p.H1380Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM221609	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM100054	c.3954+2T>G	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1015786	c.73T>C	p.C25R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87107	c.2604T>G	p.F868L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1049757	c.3045C>T	p.S1015S	Substitution - coding silent	Liver
COSM1309592	c.2302G>C	p.D768H	Substitution - Missense	Urinary_tract
COSM42051	c.5581G>A	p.G1861R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4766163	c.5480_5480delA	p.K1827fs*6	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42011	c.5615T>C	p.L1872P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1716791	c.?	p.Q321del	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM2952752	c.2033G>A	p.G678D	Substitution - Missense	Large_intestine
COSM3738474	c.?	p.Q1834*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4992082	c.3690C>T	p.I1230I	Substitution - coding silent	Skin
COSM43524	c.3769_3770insA	p.T1257fs*11	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43416	c.2368C>T	p.Q790*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43471	c.4081G>A	p.G1361S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144545	c.5216G>T	p.R1739I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1737885	c.4426_4427delGC	p.A1476fs*1	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1735762	c.2737C>T	p.Q913*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1169679	c.?	p.L757fs*12	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5944138	c.2090_2090delC	p.P697fs*3	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43417	c.2746C>T	p.Q916*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211541	c.?	p.Q1068fs*13	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211750	c.5666C>G	p.P1889R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4170115	c.4162delA	p.M1388fs*60	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1318632	c.822delC	p.N275fs*18	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41844	c.?	p.Q891*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41719	c.?	p.K1197R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM211639	c.2638_2638delC	p.H880fs*41	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211666	c.1960C>T	p.Q654*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211701	c.3151C>T	p.Q1051*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4168918	c.5509G>A	p.A1837T	Substitution - Missense	Peritoneum
COSM4171286	c.301C>A	p.P101T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5985549	c.2529delG	p.N844fs*29	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41851	c.2767_2768insCATA	p.N923fs*2	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43409	c.?	p.?fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM87153	c.4097G>A	p.R1366H	Substitution - Missense	Breast
COSM2952745	c.1837delG	p.L615fs*24	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42026	c.?	p.R1366H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383947	c.4402_4403delAA	p.K1468fs*9	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5878996	c.2839_2840insAA	p.H949fs*5	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5944513	c.3473_3474insA	p.A1159fs*3	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42070	c.5650A>G	p.T1884A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41706	c.4354C>T	p.R1452*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383837	c.2269delC	p.L757fs*56	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383905	c.3523A>T	p.I1175F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM42004	c.5603A>G	p.H1868R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4167269	c.?	p.E1320fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM96522	c.3202C>T	p.Q1068*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3720607	c.2715_2716insA	p.M906fs*18	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43414	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM307762	c.?	p.Y867H	Substitution - Missense	Skin
COSM1716782	c.?	p.S1303R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4170110	c.3109_3110insC	p.K1038fs*5	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5574229	c.1918C>T	p.Q640*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41848	c.?	p.G1275E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878998	c.2975_2976insT	p.M993fs*16	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM53277	c.3205_3205delA	p.T1069fs*13	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41706	c.4354C>T	p.R1452*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211638	c.2747_2748insA	p.Q917fs*7	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41850	c.1630C>T	p.R544*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1169683	c.?	p.K450*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43409	c.?	p.?fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM87180	c.5374_5374delC	p.H1792fs*28	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM2270976	c.2176C>T	p.Q726*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM87144	c.4011_4012insGTAT	p.K1338fs*2	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5351714	c.4004C>A	p.P1335Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383936	c.4108G>T	p.G1370W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53139	c.?	p.Q644*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM42016	c.4393C>T	p.R1465*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5702618	c.4456T>C	p.S1486P	Substitution - Missense	Kidney
COSM4847603	c.3072C>G	p.I1024M	Substitution - Missense	Cervix
COSM5945056	c.4139A>C	p.H1380P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1015786	c.73T>C	p.C25R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43416	c.2368C>T	p.Q790*	Substitution - Nonsense	Skin
COSM52003	c.?	p.V1199I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53171	c.?	p.Q910*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1716772	c.?	p.Q916*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1169690	c.?	p.N1156I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM211728	c.3965T>A	p.L1322Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1186626	c.2703T>G	p.N901K	Substitution - Missense	Lung
COSM4169530	c.?	p.R1359C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43493	c.?	p.G1361S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383758	c.397delC	p.P133fs*12	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211627	c.4714C>T	p.R1572W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43442	c.5104C>T	p.Q1702*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211736	c.4636C>T	p.Q1546*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3365424	c.949C>A	p.Q317K	Substitution - Missense	Kidney
COSM4170171	c.2147_2148delCA	p.H717fs*5	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5002347	c.1310A>C	p.Y437S	Substitution - Missense	Pancreas
COSM52012	c.?	p.Q548L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM43417	c.2746C>T	p.Q916*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383833	c.2153delT	p.L719fs*32	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4167259	c.?	p.K1171N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878988	c.2725C>T	p.Q909*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM42039	c.3866G>T	p.C1289F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1169692	c.?	p.R1214Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM211645	c.?_?del?	p.Y1608fs*47	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87164	c.4167_4168insGA	p.N1390fs*59	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3735043	c.3409+1G>T	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4766094	c.3443A>G	p.Y1148C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4766117	c.2557_2558insT	p.A855fs*17	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5610833	c.2854C>T	p.L952L	Substitution - coding silent	Skin
COSM307764	c.?	p.M1388I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43413	c.?_?ins?	p.?fs	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1716912	c.4678_4679insA	p.Y1560fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM96927	c.2095T>A	p.L699M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM42084	c.1924C>T	p.Q642*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1168024	c.3737C>A	p.S1246*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383799	c.1267A>T	p.K423*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM87134	c.3812_3813insG	p.C1271fs*29	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM110748	c.3813_3813delC	p.C1271fs*92	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM110777	c.2003_2003delT	p.L668fs*32	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211719	c.3764_3765insA	p.Y1255fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM52005	c.?	p.C1271W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM211625	c.4457C>G	p.S1486*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211643	c.3782G>A	p.R1261H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87110	c.2862G>A	p.W954*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1228963	c.3444T>A	p.Y1148*	Substitution - Nonsense	Large_intestine
COSM5610842	c.1364C>T	p.P455L	Substitution - Missense	Skin
COSM4383940	c.4136C>T	p.A1379V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5945066	c.4889C>G	p.S1630*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM97191	c.4893T>A	p.Y1631*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3720051	c.2113C>T	p.Q705*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM42003	c.4019T>C	p.L1340P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53169	c.?	p.S1303fs*58	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM53114	c.?	p.Q1529*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM96927	c.2095T>A	p.L699M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1015786	c.73T>C	p.C25R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM211627	c.4714C>T	p.R1572W	Substitution - Missense	Biliary_tract
COSM87074	c.640_641insT	p.S214fs*11	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM447196	c.264T>C	p.C88C	Substitution - coding silent	Breast
COSM1049757	c.3045C>T	p.S1015S	Substitution - coding silent	Endometrium
COSM1737945	c.3809_3810insC	p.C1271fs*29	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4170095	c.1379delC	p.Q461fs*25	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5645483	c.3785G>T	p.R1262L	Substitution - Missense	Oesophagus
COSM3738493	c.?	p.P1271fs*29	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4167238	c.?	p.L206R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM42025	c.?	p.R1465*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1716786	c.?	p.Q635*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43507	c.?	p.Y1255*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1049767	c.5538C>A	p.V1846V	Substitution - coding silent	Endometrium
COSM43520	c.1378_1378delT	p.S460fs*26	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1426209	c.2639A>G	p.H880R	Substitution - Missense	Large_intestine
COSM43417	c.2746C>T	p.Q916*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM110770	c.5594C>G	p.A1865G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2952796	c.3985C>A	p.L1329M	Substitution - Missense	Large_intestine
COSM42055	c.4076G>A	p.R1359H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383966	c.5447T>G	p.L1816*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM53168	c.?	p.P1629fs*31	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3738475	c.?	p.Q705*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43428	c.238C>T	p.Q80*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43436	c.973C>T	p.Q325*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM100067	c.783_783delC	p.C262fs*31	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM2952825	c.5841A>C	p.K1947N	Substitution - Missense	Large_intestine
COSM4766128	c.4121G>A	p.C1374Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87192	c.5885C>T	p.P1962L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666930	c.?	p.S733F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944524	c.5669_5670insA	p.N1890fs*2	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4766131	c.3954+1G>C	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1583046	c.?	p.R1161fs*64	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42016	c.4393C>T	p.R1465*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41850	c.1630C>T	p.R544*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1049739	c.241G>T	p.E81*	Substitution - Nonsense	Endometrium
COSM1318624	c.2870_2871insA	p.Q958fs*14	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42037	c.4210C>T	p.R1404*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383932	c.3995T>C	p.L1332P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1169681	c.?	p.Q803*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1685379	c.5569C>T	p.P1857S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4956768	c.749A>G	p.N250S	Substitution - Missense	Liver
COSM2952696	c.679_680insA	p.T229fs*25	Insertion - Frameshift	Large_intestine
COSM1235471	c.744C>A	p.H248Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716779	c.?	p.Q1654*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1318626	c.2839C>T	p.Q947*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5879005	c.3247C>T	p.Q1083*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM46456	c.1669C>T	p.Q557*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383970	c.5641C>T	p.H1881Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43499	c.5693C>T	p.S1898F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87138	c.3893G>A	p.C1298Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM100060	c.1033_1036delAAGC	p.K345fs*1	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42038	c.3579T>G	p.C1193W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4170044	c.4100C>G	p.P1367R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5486397	c.2642G>T	p.R881M	Substitution - Missense	Large_intestine
COSM1716777	c.?	p.Q324*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM87153	c.4097G>A	p.R1366H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583044	c.?	p.N535fs*6	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4766172	c.2578C>T	p.Q860*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3824895	c.4045-1G>C	p.?	Unknown	Breast
COSM4383865	c.2665delA	p.K889fs*32	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5990099	c.5542delT	p.S1848fs*39	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383831	c.2068C>T	p.Q690*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211692	c.2552_2552delC	p.P851fs*22	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM53279	c.5449C>A	p.H1817N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685372	c.1259C>G	p.S420*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM51998	c.?	p.A1355*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM87100	c.2305_2305delC	p.Q769fs*44	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4542657	c.3227G>C	p.S1076T	Substitution - Missense	Skin
COSM4766165	c.2089C>A	p.P697T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53153	c.?	p.T1393P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4610015	c.629G>A	p.G210D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41644	c.1648C>T	p.R550*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383946	c.4312A>T	p.K1438*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1169689	c.?	p.D1242fs*11	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211731	c.4133G>A	p.C1378Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5020249	c.86C>G	p.P29R	Substitution - Missense	Soft_tissue
COSM211720	c.3812G>A	p.C1271Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4385603	c.4311_4312insA	p.R1440fs*38	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41741	c.5618T>C	p.I1873T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944521	c.5451_5452insA	p.L1819fs*3	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1738132	c.?	p.S315fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42005	c.3954+2T>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM87162	c.4144C>T	p.H1382Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944238	c.209_213delAGAAT	p.N71fs*5	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4170045	c.4884T>G	p.Y1628*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5878990	c.2740_2741ins41	p.F928fs*7	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4170151	c.3763_3764insA	p.Y1255fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42002	c.694C>T	p.Q232*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5945662	c.3803+2T>G	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM43409	c.?	p.?fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1716776	c.?	p.T313fs*18	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87141	c.3954+1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM100064	c.1664_1664delC	p.P555fs*6	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383845	c.2309_2310delAA	p.E772fs*8	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM318104	c.1578G>T	p.Q526H	Substitution - Missense	Soft_tissue
COSM87182	c.5482C>T	p.Q1828*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM42029	c.3646C>T	p.R1216*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383919	c.3788delG	p.C1263fs*3	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5708971	c.4264_4265delAA	p.K1422fs*3	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5879051	c.5720T>C	p.M1907T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944252	c.942delT	p.S315fs*32	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5944292	c.4505delC	p.T1502fs*69	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM53140	c.?	p.R550*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4167250	c.?	p.S890A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3738472	c.?	p.P413fs*14	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4981692	c.456T>A	p.S152R	Substitution - Missense	Oesophagus
COSM4383807	c.1480delG	p.T495fs*2	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1495694	c.1800G>A	p.M600I	Substitution - Missense	Kidney
COSM87078	c.942T>A	p.C314*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5652439	c.4962G>A	p.Q1654Q	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM5641942	c.1161C>T	p.F387F	Substitution - coding silent	Oesophagus
COSM166283	c.4661_4664delCAGA	p.T1554fs*16	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5694278	c.412C>T	p.Q138*	Substitution - Nonsense	Soft_tissue
COSM5968690	c.4298A>G	p.E1433G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1169698	c.2131_2131delG	p.E711fs*40	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41741	c.5618T>C	p.I1873T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3598858	c.2044C>T	p.H682Y	Substitution - Missense	Skin
COSM87079	c.945_945delC	p.Q317fs*30	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM110785	c.4736A>C	p.Y1579S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87130	c.3781C>T	p.R1261C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM211716	c.3622A>T	p.K1208*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5944490	c.836_837insAGAC	p.S280fs*3	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5945019	c.1471C>T	p.Q491*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1169685	c.?	p.S1525fs*53	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1716785	c.?	p.A1224fs*2	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1737881	c.2285_2285delA	p.H762fs*51	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42013	c.5456T>G	p.L1819*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1168035	c.4053T>G	p.Y1351*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4166534	c.?	p.F1706fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3916904	c.274G>A	p.G92R	Substitution - Missense	Skin
COSM41706	c.4354C>T	p.R1452*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM42037	c.4210C>T	p.R1404*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4385602	c.4250_4251insTCTG	p.P1419fs*8	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5878972	c.2397delT	p.H800fs*13	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211746	c.5203G>T	p.G1735*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM110768	c.2596C>T	p.Q866*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211679	c.1157_1157delT	p.V386fs*41	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87172	c.4824T>G	p.Y1608*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41649	c.4075C>T	p.R1359C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM42036	c.3571C>T	p.Q1191*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211721	c.3812G>C	p.C1271S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2952823	c.5839delA	p.V1949fs*1	Deletion - Frameshift	Large_intestine
COSM4170137	c.2254_2257delAATA	p.N752fs*60	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43440	c.1061C>G	p.S354*	Substitution - Nonsense	Skin
COSM253111	c.983delT	p.F329fs*18	Deletion - Frameshift	Ovary
COSM1049760	c.4048G>C	p.E1350Q	Substitution - Missense	Endometrium
COSM42029	c.3646C>T	p.R1216*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3720588	c.3364_3365insCT	p.P1123fs*15	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383774	c.974_975delAA	p.K326fs*4	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383939	c.4130T>C	p.F1377S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM41891	c.?	p.R1261L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM211668	c.4990C>T	p.Q1664*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5945043	c.3590A>G	p.K1197R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87153	c.4097G>A	p.R1366H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM110745	c.1799_1799delT	p.M600fs*39	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1318617	c.4060_4061delAG	p.R1354fs*46	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM307760	c.?	p.Q403*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383953	c.4662_4663delAG	p.E1555fs*22	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1015786	c.73T>C	p.C25R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM120174	c.3578G>T	p.C1193F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43445	c.5642A>G	p.H1881R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM211610	c.1318C>T	p.Q440*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211666	c.1960C>T	p.Q654*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4005655	c.1001C>T	p.S334F	Substitution - Missense	Urinary_tract
COSM4383863	c.2646C>A	p.C882*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383912	c.3703G>A	p.G1235R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716808	c.?	p.R1261H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41708	c.4570C>T	p.Q1524*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM53047	c.?	p.V218fs*34	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87141	c.3954+1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5945058	c.4247A>G	p.H1416R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM46461	c.2044_2045insC	p.H682fs*11	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM2952793	c.3887A>G	p.N1296S	Substitution - Missense	Large_intestine
COSM41710	c.4723_4745del23	p.P1575fs*31	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87167	c.4183-1G>C	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1318632	c.822delC	p.N275fs*18	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211603	c.3735C>G	p.Y1245*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5990112	c.5454delA	p.K1818fs*2	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41741	c.5618T>C	p.I1873T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87113	c.2918_2919insG	p.C973fs*3	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87130	c.3781C>T	p.R1261C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41850	c.1630C>T	p.R544*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM42029	c.3646C>T	p.R1216*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4121135	c.2094G>T	p.V698V	Substitution - coding silent	Stomach
COSM42010	c.2053C>T	p.Q685*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM211540	c.?	p.T1078P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3365422	c.582C>A	p.D194E	Substitution - Missense	Kidney
COSM1666931	c.?	p.M1293I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM110747	c.3762_3763insA	p.Y1255fs*13	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5796076	c.3750G>C	p.E1250D	Substitution - Missense	Breast
COSM53157	c.?	p.A1876G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53267	c.2149_2150insA	p.H717fs*6	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM110790	c.1602_1605delAAAC	p.N535fs*6	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211619	c.3619G>T	p.E1207*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3719516	c.3730_3731delCT	p.Y1245fs*22	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4766127	c.4133G>T	p.C1378F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666932	c.?	p.P174H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4167240	c.?	p.A295fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3738479	c.?	p.C1221fs*5	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383975	c.5824C>T	p.Q1942*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM200503	c.2391C>T	p.F797F	Substitution - coding silent	Large_intestine
COSM132897	c.2982_2982delC	p.H994fs*13	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41644	c.1648C>T	p.R550*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM42028	c.3640C>T	p.R1214W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM211728	c.3965T>A	p.L1322Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4766167	c.5298C>G	p.Y1766*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41843	c.?	p.T1372I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41894	c.?	p.P1962L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1694772	c.2920C>T	p.H974Y	Substitution - Missense	Skin
COSM43485	c.490_491delAC	p.T164fs*6	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211616	c.3054_3066del13	p.N1018fs*11	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1664526	c.2744C>T	p.A915V	Substitution - Missense	Kidney
COSM1737890	c.3845G>A	p.G1282D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3365442	c.976A>T	p.K326*	Substitution - Nonsense	Kidney
COSM4383890	c.3160delG	p.V1054fs*1	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4766111	c.5621A>G	p.E1874G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41882	c.2525C>A	p.S842*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43504	c.2290_2291insC	p.Q764fs*5	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211711	c.3453_3454insA	p.G1152fs*5	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383963	c.5254A>T	p.K1752*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM97081	c.?	p.T1114fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41736	c.1526C>G	p.S509*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383938	c.4128C>A	p.D1376E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1644128	c.?	p.P411del	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM5879007	c.3368C>A	p.P1123H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM211717	c.3662G>A	p.C1221Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM219091	c.?	p.S1494*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5415916	c.?	p.R1896M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM96926	c.4854C>G	p.Y1618*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211634	c.5713A>G	p.K1905E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM221585	c.1326_1327delCA	p.T443fs*11	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM144510	c.3234_3235ins58	p.P1079fs*8	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5944258	c.1266delA	p.S424fs*3	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM110772	c.4474G>T	p.E1492*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5878955	c.1659_1660insC	p.T556fs*11	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43508	c.961C>T	p.Q321*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4542486	c.3195G>C	p.L1065F	Substitution - Missense	Skin
COSM110791	c.3824G>A	p.G1275E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383835	c.2207C>G	p.S736*	Substitution - Nonsense	Cervix
COSM53276	c.2198_2199insT	p.Q734fs*20	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211702	c.3176C>G	p.S1059*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3723842	c.5203G>A	p.G1735R	Substitution - Missense	Upper_aerodigestive_tract
COSM4170032	c.2245C>T	p.Q749*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5729915	c.3595G>A	p.V1199M	Substitution - Missense	Skin
COSM53144	c.?	p.A707fs*9	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM43444	c.1354_1354delG	p.E452fs*34	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5574231	c.521C>A	p.P174H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4167284	c.?	p.H1893Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53145	c.?	p.L1360R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3738480	c.?	p.M804fs*9	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1716878	c.3700G>T	p.E1234*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM87072	c.521_521delC	p.P174fs*9	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5879019	c.3729_3733delACTCT	p.Y1245fs*21	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5879028	c.3955-2A>G	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM87192	c.5885C>T	p.P1962L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM42069	c.4474_4474delG	p.E1492fs*79	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43412	c.?_?del?	p.?fs	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41888	c.?	p.R1214W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5945039	c.2983A>C	p.T995P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87110	c.2862G>A	p.W954*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM231546	c.65C>T	p.P22L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716807	c.?	p.Q1547*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM42073	c.5738G>T	p.G1913V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3598846	c.44G>T	p.S15I	Substitution - Missense	Skin
COSM211738	c.4807C>T	p.Q1603*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1716598	c.4879C>T	p.Q1627*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM87140	c.3921_3921delG	p.K1308fs*55	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41706	c.4354C>T	p.R1452*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211633	c.5686A>G	p.R1896G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1309596	c.3316G>C	p.E1106Q	Substitution - Missense	Urinary_tract
COSM3365445	c.5142T>G	p.N1714K	Substitution - Missense	Kidney
COSM5708961	c.2798_2801delAGGG	p.G934fs*18	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41648	c.?	p.N1641I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41644	c.1648C>T	p.R550*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43417	c.2746C>T	p.Q916*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4172497	c.?	p.P1723S	Substitution - Missense	Skin
COSM87161	c.4138C>T	p.H1380Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM42016	c.4393C>T	p.R1465*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4496811	c.4832C>T	p.S1611F	Substitution - Missense	Skin
COSM43420	c.4546C>T	p.R1516*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM46457	c.3708_3716del9	p.P1237_S1239del	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM211670	c.1756_1757insT	p.P587fs*51	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4167250	c.?	p.S890A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5945050	c.3954+1G>T	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5945658	c.4035T>G	p.Y1345*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41644	c.1648C>T	p.R550*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM87076	c.816_817insCTCAGGG	p.Q273fs*11	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41644	c.1648C>T	p.R550*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1018320	c.4817G>C	p.G1606A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1013372	c.4070_4071delAG	p.E1357fs*43	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41894	c.?	p.P1962L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM200504	c.2866C>A	p.L956I	Substitution - Missense	Endometrium
COSM211636	c.3525_3525delT	p.R1176fs*50	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211642	c.3895_3896insT	p.K1299fs*12	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5990104	c.1958delT	p.F653fs*47	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42019	c.5647_5648insC	p.T1884fs*8	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1716786	c.?	p.Q635*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM53239	c.?	p.Q1348R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53109	c.?	p.A1344E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383821	c.1677T>A	p.Y559*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43414	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1228963	c.3444T>A	p.Y1148*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43508	c.961C>T	p.Q321*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1738135	c.?	p.S1611fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4642835	c.5890T>C	p.Y1964H	Substitution - Missense	Large_intestine
COSM87150	c.4082G>A	p.G1361D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5762951	c.1334_1335delTT	p.L446fs*8	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM46456	c.1669C>T	p.Q557*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3598858	c.2044C>T	p.H682Y	Substitution - Missense	Skin
COSM43416	c.2368C>T	p.Q790*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM42029	c.3646C>T	p.R1216*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4604912	c.2601T>A	p.Y867*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM211752	c.5735A>C	p.H1912P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM211718	c.3743T>C	p.L1248P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5762953	c.1452T>A	p.C484*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM2952721	c.1394C>T	p.P465L	Substitution - Missense	Skin
COSM41742	c.5152G>T	p.V1718L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41742	c.5152G>T	p.V1718L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43505	c.?	p.R1516*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41850	c.1630C>T	p.R544*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1169704	c.?	p.N275fs*18	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1737964	c.3765C>G	p.Y1255*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383762	c.510delC	p.C171fs*12	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42013	c.5456T>G	p.L1819*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM6011567	c.4818T>C	p.G1606G	Substitution - coding silent	Skin
COSM1049746	c.1299A>G	p.E433E	Substitution - coding silent	Endometrium
COSM5944515	c.4009_4010insA	p.Y1337fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87130	c.3781C>T	p.R1261C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM211719	c.3764_3765insA	p.Y1255fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211756	c.3243_3243delA	p.E1082fs*24	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41850	c.1630C>T	p.R544*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM42037	c.4210C>T	p.R1404*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5674461	c.3348A>G	p.I1116M	Substitution - Missense	Soft_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM42045	c.4258_4261delTTAT	p.L1420fs*27	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM110786	c.4884T>A	p.Y1628*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211673	c.1658_1659insG	p.P554fs*13	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM53161	c.?	p.R1452*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM53106	c.?	p.T1726fs*18	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3735047	c.4825_4844del20	p.L1609fs*45	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM146006	c.4688C>T	p.S1563F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM110779	c.3489_3498CATGGAAGAA>TAAGGT	p.M1164fs*61	Complex - frameshift	Haematopoietic_and_lymphoid_tissue
COSM5989596	c.4284_4285insT	p.G1430fs*48	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5931556	c.2305C>T	p.Q769*	Substitution - Nonsense	Skin
COSM4383961	c.4983T>A	p.Y1661*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM120174	c.3578G>T	p.C1193F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM235641	c.?	p.Q461*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM144519	c.4303C>T	p.Q1435*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM87153	c.4097G>A	p.R1366H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM214585	c.3594+2T>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4383805	c.1399_1402delACAC	p.T467fs*18	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4169860	c.2230C>T	p.Q744*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM42026	c.?	p.R1366H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3735006	c.?	p.L1340R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1318632	c.822delC	p.N275fs*18	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5944296	c.5331_5332delTC	p.H1778fs*10	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383831	c.2068C>T	p.Q690*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1737882	c.3578G>A	p.C1193Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43445	c.5642A>G	p.H1881R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87085	c.1240C>T	p.Q414*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383921	c.3844G>C	p.G1282R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4843733	c.4591C>G	p.L1531V	Substitution - Missense	Cervix
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1685368	c.?	p.Q769*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM53130	c.?	p.Y1569fs*1	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43427	c.4609C>T	p.Q1537*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM130409	c.2116C>T	p.Q706*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1049745	c.972A>C	p.Q324H	Substitution - Missense	Endometrium
COSM53161	c.?	p.R1452*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4166140	c.3763_3764insT	p.Y1255fs*13	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM100078	c.2282_2282delC	p.P761fs*52	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4166144	c.5111_5112insA	p.D1704fs*9	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4475407	c.1988C>T	p.S663F	Substitution - Missense	Skin
COSM4888505	c.3947C>A	p.P1316Q	Substitution - Missense	Upper_aerodigestive_tract
COSM4166535	c.?	p.G1735R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144511	c.3844_3845insTG	p.G1282fs*82	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43417	c.2746C>T	p.Q916*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1168028	c.2191C>T	p.Q731*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4170141	c.3480_3481insA	p.R1161fs*13	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41991	c.5695_5695delC	p.L1899fs*9	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1716796	c.?	p.Y380fs*46	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1716801	c.?	p.P1889L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1426203	c.80C>T	p.T27I	Substitution - Missense	Large_intestine
COSM110774	c.3546_3547insC	p.T1183fs*3	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1166762	c.3593delG	p.V1199fs*27	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4121127	c.1310A>G	p.Y437C	Substitution - Missense	Stomach
COSM43443	c.5060_5061delAG	p.S1688fs*4	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87130	c.3781C>T	p.R1261C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM211691	c.2438_2439insAA	p.N813fs*12	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41901	c.?	p.R1216*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41163	c.4010_4025del16	p.Y1337fs*21	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41998	c.1955_1955delA	p.Q652fs*48	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1738051	c.?	p.I340fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM221587	c.452_453delTG	p.V151fs*10	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM88808	c.?	p.G1288D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5356198	c.3252A>G	p.Q1084Q	Substitution - coding silent	Large_intestine
COSM43499	c.5693C>T	p.S1898F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4385600	c.4018_4019insT	p.A1341fs*3	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4996388	c.1970C>G	p.S657*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM41729	c.3928_3929insT	p.K1310fs*6	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1049755	c.2441G>A	p.R814H	Substitution - Missense	Endometrium
COSM4766090	c.3312_3313insT	p.I1105fs*25	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42042	c.5163_5163delG	p.L1721fs*24	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1716775	c.?	p.A1512fs*59	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5945659	c.5633_5634insCG	p.E1879fs*9	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42016	c.4393C>T	p.R1465*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM87103	c.2450_2454delCCCCT	p.S817fs*2	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4167271	c.?	p.Y1421*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41649	c.4075C>T	p.R1359C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM211720	c.3812G>A	p.C1271Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4766125	c.4193_4194insT	p.T1399fs*2	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43427	c.4609C>T	p.Q1537*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1318622	c.3343delC	p.P1115fs*2	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM330642	c.?	p.T665fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM53058	c.?	p.D1376G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4385584	c.2351_2352insA	p.C784fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211731	c.4133G>A	p.C1378Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41741	c.5618T>C	p.I1873T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41741	c.5618T>C	p.I1873T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3428019	c.445G>T	p.E149*	Substitution - Nonsense	Large_intestine
COSM4385603	c.4311_4312insA	p.R1440fs*38	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM166294	c.2797C>T	p.Q933*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4170127	c.2474delC	p.S825fs*1	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4169532	c.?	p.Q684E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM87192	c.5885C>T	p.P1962L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5708952	c.553C>T	p.Q185*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM53127	c.?	p.C1193W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1495696	c.1660C>T	p.P554S	Substitution - Missense	Kidney
COSM4167261	c.?	p.C1221S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3738495	c.?	p.D551fs*15	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87138	c.3893G>A	p.C1298Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM220395	c.2620C>G	p.P874A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4166139	c.5619_5619delT	p.I1873fs*14	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5878974	c.2482delT	p.C828fs*13	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM41883	c.1516A>T	p.R506*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1666933	c.?	p.T1007A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM211643	c.3782G>A	p.R1261H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2952696	c.679_680insA	p.T229fs*25	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM88808	c.?	p.G1288D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4170103	c.4285delT	p.F1429fs*19	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM110781	c.987_988insT	p.E330fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM219145	c.3323_3323delC	p.P1108fs*5	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4170053	c.4954C>T	p.Q1652*	Substitution - Nonsense	Pancreas
COSM1716774	c.?	p.F1104fs*2	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM100058	c.4333C>T	p.Q1445*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM42084	c.1924C>T	p.Q642*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383914	c.3715_3716delTC	p.L1240fs*2	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5944500	c.2223_2224insTAAAC	p.Q742fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211621	c.3697T>G	p.W1233G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM42037	c.4210C>T	p.R1404*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4767349	c.2072_2087del16	p.E692fs*3	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41709	c.4317_4318insA	p.R1440fs*38	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43413	c.?_?ins?	p.?fs	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM307759	c.?	p.L34F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87099	c.2236C>T	p.Q746*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4169860	c.2230C>T	p.Q744*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5809357	c.5773G>A	p.A1925T	Substitution - Missense	Liver
COSM4383922	c.3858delT	p.F1287fs*76	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM120176	c.3813C>G	p.C1271W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM42016	c.4393C>T	p.R1465*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1716769	c.?	p.Q278*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM87119	c.3500+2T>C	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM41213	c.1864C>T	p.Q622*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43420	c.4546C>T	p.R1516*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM85919	c.4126G>A	p.D1376N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM100077	c.1441C>T	p.Q481*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM87137	c.3885_3885delC	p.Y1295fs*1	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87107	c.2604T>G	p.F868L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM42037	c.4210C>T	p.R1404*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5577117	c.1167G>A	p.K389K	Substitution - coding silent	Skin
COSM41735	c.4099C>T	p.P1367S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM219068	c.?	p.N312S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3738469	c.?	p.G1869E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM211696	c.2864_2865insA	p.H955fs*17	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4766168	c.4133_4133delG	p.C1378fs*70	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4766101	c.4241A>G	p.Q1414R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4766175	c.1647_1648insA	p.R550fs*17	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4385599	c.3545_3546insGAA	p.Y1182>*	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4461677	c.1216C>T	p.L406F	Substitution - Missense	Skin
COSM211720	c.3812G>A	p.C1271Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM46330	c.1973_1974delAC	p.H658fs*22	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4121125	c.1214T>G	p.L405R	Substitution - Missense	Stomach
COSM3735003	c.?	p.N196K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1716167	c.3863G>T	p.G1288V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43489	c.2540_2543delAGAC	p.Q847fs*25	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43417	c.2746C>T	p.Q916*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM110749	c.685_686insA	p.T229fs*25	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87161	c.4138C>T	p.H1380Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383815	c.1562G>A	p.S521N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM110793	c.5209_5210delAC	p.T1737fs*2	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1235473	c.3609C>G	p.S1203R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5261949	c.1959delC	p.Q654fs*46	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41649	c.4075C>T	p.R1359C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87160	c.4128C>G	p.D1376E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM42061	c.1843_1844insG	p.L615fs*23	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM53275	c.2386G>T	p.E796*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM211725	c.3860T>C	p.F1287S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878924	c.480_481insA	p.D162fs*9	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5967244	c.?	p.Q652*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM42007	c.2306_2306delA	p.Q769fs*44	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM52004	c.?	p.E1437fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1735762	c.2737C>T	p.Q913*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM6011568	c.5050G>A	p.G1684R	Substitution - Missense	Skin
COSM87127	c.3657C>G	p.H1219Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM100059	c.2355_2355delT	p.H786fs*27	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1169686	c.?	p.Q810*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM144544	c.4022C>A	p.A1341E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41742	c.5152G>T	p.V1718L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43418	c.5036_5036delA	p.Y1679fs*16	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1049766	c.4965G>A	p.P1655P	Substitution - coding silent	Endometrium
COSM53267	c.2149_2150insA	p.H717fs*6	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM100067	c.783_783delC	p.C262fs*31	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM166837	c.5602C>T	p.H1868Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41850	c.1630C>T	p.R544*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4170168	c.3821_3822delAG	p.Q1274fs*25	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42051	c.5581G>A	p.G1861R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5020142	c.1088C>T	p.P363L	Substitution - Missense	Soft_tissue
COSM5945036	c.2872C>T	p.Q958*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41745	c.1196C>T	p.P399L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM43417	c.2746C>T	p.Q916*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5878978	c.2493_2494delGG	p.Q831fs*14	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41732	c.2504C>G	p.S835*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM4170151	c.3763_3764insA	p.Y1255fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3738473	c.?	p.G1519fs*52	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5879022	c.3785G>C	p.R1262P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM42029	c.3646C>T	p.R1216*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4170130	c.5456_5462delTAAGTGA	p.S1820fs*11	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383788	c.1249C>T	p.Q417*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5879035	c.4116delT	p.A1373fs*75	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3824895	c.4045-1G>C	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5945053	c.3956A>T	p.E1319V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5708958	c.1622T>C	p.L541P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5352335	c.?	p.S609C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383885	c.3139delA	p.T1047fs*8	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4169524	c.?	p.L1332F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5574233	c.920T>G	p.L307R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716598	c.4879C>T	p.Q1627*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM84862	c.459T>G	p.S153S	Substitution - coding silent	Pancreas
COSM53274	c.5041_5048delCCAAGGTT	p.P1681fs*3	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87112	c.2896C>T	p.Q966*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1168031	c.762_765delTCAG	p.S254fs*38	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3974647	c.67C>T	p.P23S	Substitution - Missense	Central_nervous_system
COSM87141	c.3954+1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5944136	c.3941_3941delA	p.D1314fs*49	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3767627	c.722C>T	p.A241V	Substitution - Missense	Liver
COSM5065036	c.4657C>T	p.Q1553*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM221609	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4766109	c.2861G>A	p.W954*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4917320	c.506A>T	p.H169L	Substitution - Missense	Liver
COSM4766177	c.3442_3443insT	p.Y1148fs*9	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211620	c.3656A>T	p.H1219L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43468	c.2721_2722insCT	p.G908fs*14	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43466	c.2133_2133delG	p.E711fs*40	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5990110	c.821delT	p.I274fs*19	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4167256	c.?	p.A1045fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5944276	c.2846delA	p.H949fs*4	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3775461	c.2966C>T	p.P989L	Substitution - Missense	Urinary_tract
COSM1168024	c.3737C>A	p.S1246*	Substitution - Nonsense	Oesophagus
COSM42052	c.1771C>T	p.Q591*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5642938	c.5911C>G	p.L1971V	Substitution - Missense	Oesophagus
COSM4167268	c.?	p.L1312V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM42070	c.5650A>G	p.T1884A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1018119	c.3448C>G	p.H1150D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4170105	c.3438delT	p.Y1148fs*4	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1318615	c.4263_4264insAT	p.K1422fs*27	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1738045	c.?	p.S825*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1737964	c.3765C>G	p.Y1255*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM87153	c.4097G>A	p.R1366H	Substitution - Missense	Breast
COSM1745514	c.2374_2375insC	p.S794fs*8	Insertion - Frameshift	Urinary_tract
COSM2270969	c.4836_4842delTAATCCC	p.N1613fs*1	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4167276	c.?	p.S1497P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM307760	c.?	p.Q403*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1485573	c.305_307delCTC	p.S102_L103>F	Complex - deletion inframe	Breast
COSM5415898	c.?	p.N439fs	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM2270967	c.3692T>C	p.L1231P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM96488	c.3820C>T	p.Q1274*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4170118	c.2007_2011delAAAAG	p.K670fs*9	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM96523	c.?	p.V1718L	Substitution - Missense	Skin
COSM53138	c.?	p.V1371fs*76	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43521	c.1843_1844insC	p.L615fs*23	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41849	c.651_652insC	p.V218fs*7	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4167260	c.?	p.G1218fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43413	c.?_?ins?	p.?fs	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM2952696	c.679_680insA	p.T229fs*25	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5351728	c.2020C>A	p.Q674K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41879	c.?	p.E961*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1737545	c.4069G>C	p.E1357Q	Substitution - Missense	Central_nervous_system
COSM43526	c.4624C>T	p.Q1542*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1168026	c.5396_5397insA	p.M1800fs*6	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM2952703	c.804G>A	p.S268S	Substitution - coding silent	Large_intestine
COSM5945059	c.4315A>T	p.K1439*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41901	c.?	p.R1216*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM42060	c.1608_1609insAA	p.E537fs*6	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5879041	c.5072_5073insTA	p.K1692fs*4	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43412	c.?_?del?	p.?fs	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5879042	c.5126delG	p.C1709fs*10	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41214	c.4062delA	p.A1355fs*8	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87148	c.4044+2_4044+3insT	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM307763	c.?	p.S794*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4766169	c.3500G>A	p.R1167K	Substitution - Missense	Prostate
COSM43409	c.?	p.?fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41648	c.?	p.N1641I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383869	c.2728C>T	p.Q910*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383931	c.3979C>T	p.Q1327*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM42044	c.2375C>A	p.S792*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM42077	c.5636A>C	p.E1879A	Substitution - Missense	Biliary_tract
COSM1716771	c.?	p.S231fs*23	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4167247	c.?	p.E846fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM110813	c.3861_3861delT	p.F1287fs*76	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1168023	c.4165C>T	p.Q1389*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4385567	c.1593_1594insA	p.L532fs*35	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43409	c.?	p.?fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM43411	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM43117	c.1_6009del6009	p.0?	Whole gene deletion	Haematopoietic_and_lymphoid_tissue
COSM132894	c.(3763_3765)insA	p.?fs	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM42030	c.3869C>G	p.S1290*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM53163	c.?	p.I1873N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383931	c.3979C>T	p.Q1327*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5762965	c.3885C>G	p.Y1295*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5708973	c.5189A>G	p.D1730G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5020013	c.5162T>G	p.L1721W	Substitution - Missense	Soft_tissue
COSM110792	c.2392G>T	p.E798*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1738050	c.?	p.P419fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM110744	c.444_445insA	p.E149fs*13	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87145	c.4011T>A	p.Y1337*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383782	c.1103delA	p.E368fs*4	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5945073	c.5735A>G	p.H1912R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4169541	c.?	p.N1567S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944506	c.2735_2736insA	p.Q913fs*11	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5944270	c.2522delT	p.S842fs*31	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM211643	c.3782G>A	p.R1261H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM211663	c.763C>T	p.Q255*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM41888	c.?	p.R1214W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM110780	c.3862G>A	p.G1288S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1018324	c.3811T>G	p.C1271G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4167242	c.?	p.V498fs*?	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM126965	c.1763C>A	p.S588*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM42016	c.4393C>T	p.R1465*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43505	c.?	p.R1516*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3738492	c.?	p.T1251fs*15	Frameshift	Haematopoietic_and_lymphoid_tissue
COSM53132	c.?	p.G1288V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM219042	c.1285G>A	p.G429R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1315858	c.767C>G	p.A256G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5990074	c.852delG	p.P285fs*8	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4766121	c.3409G>A	p.E1137K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5708974	c.5347C>T	p.Q1783*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1168019	c.4544_4545insT	p.L1515fs*63	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3760322	c.5284A>G	p.I1762V	Substitution - Missense	Large_intestine
COSM41214	c.4062delA	p.A1355fs*8	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5989763	c.3904A>T	p.R1302*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue

> Text Mining based Variations

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PMID	Variation	Cancer	Evidence
27707735	Mutation	Chronic Myelomonocytic Leukemia	Exome sequencing studies in Chronic Myelomonocytic Leukemia (CMML) illustrate a mutational landscape characterized by few somatic mutations involving a subset of recurrent gene mutations in ASXL1, SRSF2, and TET2, each approaching 40% in incidence.
27741277	Mutation	Myelodysplastic Syndrome; Myeloproliferative Neoplasm	Moreover, in the whole series, the integrative analysis of aCGH and NGS enabled the identification of cryptic recurrent deletions in 2p23.3 (DNMT3A; n = 2.8%), 4q24 (TET2; n = 10%) 17p13 (TP53; n = 8.5%), 21q22 (RUNX1; n = 7%), and Xp11.4 (BCOR; n = 2.8%), while mutations in the non-deleted allele where found only in DNMT3A (n = 1), TET2 (n = 3), and TP53 (n = 4).
27694501	Mutation	Hematopoietic and Lymphoid Cell Neoplasm	These include TET2, SRSF2, ASXL1, RUNX1, JAK2, and/or RAS mutations, which may adversely impact prognosis and survival in particular systemic mastocytosis with an associated hematological neoplasm.
27594918	Mutation	Primary Myelofibrosis	Genomic profiling showed that TET2 and SRSF2 mutations were also present.
27486019	Mutation	Prostate Carcinoma	TET2 in African Americans was associated with aggressive disease, with 24.4% of cases harboring a rare deleterious variant compared with 9.6% of controls (FET P = 1.84 × 10(-5), OR = 3.0; SKAT-O P = 2.74 × 10(-5)).
27449473	Mutation	Myeloproliferative neoplasm	Our assay reliably detects well characterized mutations in JAK2, CALR, and MPL, but also rarer mutations in ASXL1, TET2, SH2B3, and other genes.
27010584	Mutation	Thyroid Gland Carcinoma	New mutations were found in an additional 13 genes known to have altered protein expression in thyroid cancer: BLM, CBL, CIITA, EP300, GSTM5, LMO2, PRAME, SBDS, SF1, TET2, TNFAIP3, XPO1, and ZRSR2.
26984174	Mutation; Underexpression	Myeloid neoplasm; myelodysplastic syndrome; Acute Myeloid Leukemia	TET2 mutations were observed in 8 out of 19 patients (42%) with myeloid neoplasms. Our results suggest that TET2 expression is reduced in MDS/AML patients, independently of mutational status.
26880370	Mutation	T Acute Lymphoblastic Leukemia	TET2 was the most frequently mutated gene, occurring in 32% (10/31) of ATL samples analyzed.
26666262	Mutation	Acute Myeloid Leukemia	We identified TET2 and PTPN11 mutations in both mouse and human AML and then demonstrated the ability of Tet2 loss and PTPN11 D61Y to initiate leukemogenesis in concert with expression of AML1-ETO in vivo.
26297264	Mutation	Chronic Myeloid Leukemia	Mutations in genes other than BCR-ABL1 include ASXL1, TET2, RUNX1, DNMT3A, EZH2, and TP53 in chronic phase patients and RUNX1, ASXL1, IKZF1, WT1, TET2, NPM1, IDH1, IDH2, NRAS, KRAS, CBL, TP53, CDKN2A, RB1, and GATA-2 mutations in advanced phase patients.
26284134	Mutation	Glioma	In this study, we genetically characterized TET2 and TET3 alterations in 50 human gliomas (WHO-Grade II-IV) and in 19 healthy brain samples. We identified 7 genetic alterations within TET2 (p.V218M, p.G355N, p.P363L, p.L1721W, p.P1723S, p.I1762V, p.H1778R).
26277372	Mutation; Underexpression	Myelodysplastic Syndrome	Mutations in TET2 gene are found in about 20-25% of adult MDS and are associated with a decrease in 5-hydroxymethylcytosine (5-hmC) content. TET2 expression and 5-hmC levels were decreased in patients when compared to a disease-free group.
26122388	Mutation	Chronic Myelomonocytic Leukemia	Gene mutations in ten-eleven translocation (TET) oncogene family member 2 (TET2) (60%), SRSF2 (50%), ASXL1 (40%), and RAS (20-30%) are frequent, with only frame shift and nonsense ASXL1 mutations negatively impacting overall survival.
26019984	Mutation	Chronic Myelomonocytic Leukemia	Forty-seven (32%) had a mutation in TET2, 42 (29%), a mutation in SRSF2, 65 (45%), a mutation (nonsense and frame-shift) in ASXL1 and 26 (18%), a mutation in SETBP1.
25886910	Mutation	Acute Myeloid Leukemia	The methylcytosine dioxygenase TET2 is frequently mutated in hematological disorders, including acute myeloid leukemia (AML), and has been suggested to protect CG dinucleotide (CpG) islands and promoters from aberrant DNA methylation.
25601757	Mutation	Acute Myeloid Leukemia	Here we report thatWT1, a sequence-specific transcription factor, is mutated in a mutually exclusive manner withTET2, IDH1, and IDH2 in acute myeloid leukemia (AML).WT1physically interacts with and recruitsTET2to its target genes to activate their expression. TheinteractionbetweenWT1andTET2isdisruptedbymultipleAML-derivedTET2mutations.
25567135	Mutation	systemic mastocytosis	All patients with (A)SM-AHNMD (n=12) carried 1-4 (median 3) additional mutations in 11 genes tested, most frequently TET2, SRSF2, ASXL1, CBL and EZH2.
25482724	Mutation	Thymic Carcinoma	Genes in histone modification [BAP1 (n = 6; 13%), SETD2 (n = 5; 11%), ASXL1 (n = 2; 4%)], chromatin remodeling [SMARCA4 (n = 2; 4%)], and DNA methylation [DNMT3A (n = 3; 7%), TET2 (n = 2; 4%), WT1 (n = 2; 4%)] pathways were recurrently mutated in TCs, but not in thymomas.
25362856	Mutation	Leukemia	Genetic mutations of TET2 gene were associated with leukemia, whereas TET1 downregulation has been shown to promote malignancy in breast cancer.
25177364	Mutation	Myelodysplastic Syndrome	Loss of heterozygosity affecting these two chromosomes and mutations in TET2 and EZH2 are indicative of a myelodysplastic syndrome with a poor prognosis.
25092778	Mutation	Myelodysplastic Syndrome	Mutations in TP53, TET2, or DNMT3A identify patients with MDS with shorter OS after HSCT.
24980573	Mutation	Melanoma	This study is the first to implicate TET2 genetic variation and mutation in melanoma.
24859829	Mutation	Cytogenetically normal Acute Myeloid Leukemia	We found that 16.1 % of patients had TET2 mutations, 31.6 % had FLT3 internal tandem duplications (ITDs), 6.2 % had FLT3 tyrosine kinase domain mutations, 2.4 % had c-KIT mutations, 37.8 % had NPM1 mutations, 11.3 % had WT1 mutations, 5.9 % had RUNX1 mutations, 11.5 % had ASXL1 mutations, 3.8 % had MLL-PTDs, 7.8 % had IDH1 mutations, 7.8 % had NRAS mutations, 12.3 % had IDH2 mutations, 1.6 % had EZH2 mutations, and 14.7 % had DNMT3A mutations, while none had CBL mutations. Gene mutations were detected in 76.94 % (287/373) of all patients.
24795056	Mutation	myeloproliferative neoplasm	The overall TET2 mutational frequency was 12.1% (22.2% in polycythemia vera (PV), 9.7% in essential thrombocythemia (ET), 18.2% in primary myelofibrosis (PMF,) and 0% in unclassified MPNs), and 11 mutations (p.Lys95Asnfs18, p.Gln967Asnfs40, p.Lys1022Glufs4, p.Asp1314Metfs49, p.Gln1534Alafs43, p.Tyr1618Leufs4, p.Leu1609Glufs45, p.Gly1735, Q599R, c.3409+1G>T, c.4044+2insT) were identified.
24740812	Mutation	myeloproliferative neoplasm	We also identified a transcriptional signature of TET2 mutations in MPN patent samples.
24413734	Mutation	Angioimmunoblastic T-Cell Lymphoma	These analyses identified highly recurrent epigenetic factor mutations in TET2, DNMT3A and IDH2 as well as a new highly prevalent RHOA mutation encoding a p.Gly17Val alteration present in 22 of 35 (67%) angioimmunoblastic T cell lymphoma (AITL) samples and in 8 of 44 (18%) PTCL, not otherwise specified (PTCL-NOS) samples.
24345752	Mutation	Angioimmunoblastic T-Cell Lymphoma	TET2 was mutated in 65 (76%) AITLs, including 43 that harbored 2 or 3 TET2 mutations.
24202323	Mutation	Myelodysplastic Syndrome	Genes implicated in epigenetic control, like DNMT3A, ASXL1, EZH2 and TET2, have been discovered to be mutated in MDS.
24164563	Mutation	Chronic Myelomonocytic Leukemia	We screened 45 patients with chronic myelomonocytic leukemia (n=39 patients, including seven with transformed-acute myeloid leukemia), MDS/MPN unclassifiable (n=5), and atypical BCR-ABL1-negative CML (n=1) for mutations in ASXL1, CBL, NRAS, and TET2 genes by molecular genetics including a sensitive next-generation sequencing (NGS) technique.
23996483	Mutation	Myelodysplastic Syndrome	Among the 168 de novo myelodysplastic syndrome patients, the frequency of TET2, IDH1, and IDH2 mutations was 18.5%, 4.2% and 6.0%, respectively.
23996481	Mutation	Myelofibrosis	We found that 88% of the cases were mutated, mainly in signaling pathway (JAK2 69%, NF1 6%) and epigenetic genes (ASXL1 26%, TET2 14%, EZH2 8%).
23940084	Mutation	Blastic Plasmacytoid Dendritic Cell Neoplasm	Targeted next-generation sequencing performed on five BPDCN cases identified TET2 (ten eleven translocation 2) mutations and no other AML-associated mutations.
23831920	Mutation	Diffuse Large B-Cell Lymphoma	Here, we show TET2 mutations in 12 of 100 diffuse large B-cell lymphomas with 7% carrying loss-of-function and 5% carrying missense mutations.
23781511	Mutation	myeloproliferative neoplasm	On multivariate analysis the diagnosis of an unclassifiable MPN was significantly related to the presence of TET2 mutations (P = 0.02; OR: 2.81; 95% CI 1.11-7.06).
23521373	Mutation	Acute Myeloid Leukemia	TET2 was found to be most frequently mutated (34·0%) gene, followed by GATA2 (21·0%), WT1 (13·7%), DNMT3A (9·6%), ASXL1 (9·5%), NRAS (8·4%), KRAS (3·2%), IDH1/2 (6·3%), FLT3-internal tandem duplication (6·3%), FLT3-tyrosine kinase domain (2·1%), NPM1 (2·1%), and RUNX1 (1/94).
23099237	Mutation	Myelodysplastic Syndrome	TET2 mutations were detected in 35 patients (23%), ASXL1 in 33 patients (22%) and EZH2 in 8 (5%).
22912701	Mutation	Acute Myeloid Leukemia	We aimed to study the frequency and relationship of a wide range of genes previously reported as mutated in AML (ASXL1, NPM1, FLT3, TET2, IDH1/2, RUNX1, DNMT3A, NRAS, JAK2, WT1, CBL, SF3B1, TP53, KRAS and MPL) in a series of 84 CN-AML cases.
22912701	Mutation	Acute Myeloid Leukemia	The most frequently mutated genes in primary cases were NPM1 (60.8%) and FLT3 (50.0%), and in secondary cases ASXL1 (48.5%) and TET2 (30.3%).
22773603	Mutation	Chronic Myelomonocytic Leukemia	SRSF2 and U2AF1 along with TET2 (48%) and ASXL1 (38%) are frequently affected by somatic mutations in chronic myelomonocytic leukemia, quite distinctly from the profile seen in juvenile myelomonocytic leukemia.
22760778	Mutation	Angioimmunoblastic T-Cell Lymphoma; t cell Lymphoma	TET2 mutations were identified in 40 of 86 (47%) cases of angioimmunoblastic T-cell lymphoma (AITL) and in 22 of 58 (38%) cases of peripheral T-cell lymphoma, not otherwise specified (PTCL-NOS), but were absent in all other PTCL entities, with the exception of 2 of 10 cases of enteropathy-associated T-cell lymphoma.
22749034	Mutation	Myelodysplastic Syndrome	Thus, a TET2 deletion was observed in a total of six patients (14.6%).
22535592	Mutation	Acute Myeloid Leukemia	In 48 MRC-AML patients analyzed, we found 17 mutations in ASXL1 (35%), eight in RUNX1 (17%), seven in TET2 (15%), 12 in IDH (n = 2) or IDH2 (n = 10) (25%), four in DNMT3A (8%), four in NPM1 (8%), and one in FLT3 (2%).
22507776	Mutation	Acute Myeloid Leukemia	Nonetheless, mutations in DNMT3A, TET2, and ASXL1 are emerging as important adverse prognosticators in subsets of patients with AML independent of FLT3 mutations whereas mutations in IDH2 at residue 140 are potential predictors of improved outcome in AML.
22511494	Mutation	Chronic Myelomonocytic Leukemia	TET2 mutations were distributed across all entities but were most frequent in suspected chronic myelomonocytic leukemia (77.8%).
22430270	Mutation	Acute Myeloid Leukemia	In total, 66 TET2(mut) were found in 60 patients (60 of 783 patients; 7.6%), including missense (n = 37), frameshift (n = 16), and nonsense (n = 13) mutations, which, with one exception, were all heterozygous.
22395470	Mutation	Chronic Myeloid Leukemia	We found that two non-CpG island promoters, AIM2 and SP140, were hypermethylated in patients with mutant TET2.
22328940	Mutation	Chronic myelomonocytic Leukemia	Mutations of TET2, JAK2 and EZH2 were found in 15 patients (65%), 4 patients (17%) and 1 patient (4%) respectively while no mutations in the IDH1 and IDH2 genes were identified.
22116554	Mutation	Acute Myeloid Leukemia	By deep-sequencing, 131 somatic TET2 mutations were identified in 87/318 (27.4%) patients.
22093580	Mutation	Acute Myeloid Leukemia	The studies highlighted in this article suggest that mutations in TET2 mutations may impart adverse outcome in patients with CN-AML, whereas mutations in DNMT3a may have adverse implications in a broader set of patients with AML.
22017486	Mutation	Acute Myeloid Leukemia; Chronic Myelomonocytic Leukemia; Myelodsplastic syndrome; Myeloporliferative neoplasm	We identified TET2 deletions in 50/893 patients (26 males, 24 females; 44-87 years) resulting in a 5.6% frequency [22/425 AML (5.2%), 15/217 chronic myelomonocytic leukemia (CMML; 6.9%), 9/188 myelodysplastic syndromes (4.8%), 4/63 myeloproliferative neoplasms (6.3%)].
21904853	Mutation	myeloproliferative neoplasm	We have studied the mutational status of TET2 (complete coding region), ASXL1 (exon12), IDH1 (R132), IDH2 (R140 and R172), and c-CBL (exons 8 and 9) in 62 MPN patients (52 essential thrombocythemia (ET), five polycythemia vera (PV), and five primary myelofibrosis (PMF)) negative for both JAK2 (V617F and exon 12) and MPL (exon 10) mutations.
21828143	Mutation	Acute Myeloid Leukemia	TET2 mutation occurred in 13.2% of our patients and was closely associated with older age, higher white blood cell and blast counts, lower platelet numbers, normal karyotype, intermediate-risk cytogenetics, isolated trisomy 8, NPM1 mutation, and ASXL1 mutation but mutually exclusive with IDH mutation.
21828135	Mutation	chronic myelomonocytic Leukemia	TET2 mutations were present in 49%, ASXL1 in 43%, CBL in 14%, IDH1/2 in 4%, KRAS in 7%, NRAS in 4%, and JAK2 V617F in 1% of patients.
21794915	underexpression (mutation)	Chronic Myeloid Leukemia	In this study, we report a chronic myeloid leukemia (CML) case showing a TET2 single copy partial deletion associated to a t(4;6;11) rearrangement, appearing during the progression of the disease and responsible for a decreased TET2 gene expression.
21729597	Mutation	Acute Myeloid Leukemia	Among 96 AML patients, TET2 gene mutation was detected in 13 (13.54%) patients (95%CI 6.70% - 20.38%).
21508122	Mutation	Acute Myeloid Leukemia	Mutation of at least one copy of the TET2 gene was detected in 49 of 247 (19.8%) patients who presented with older age, higher hemoglobin level, higher neutrophil and monocyte counts, and lower platelet count.
21346257	Mutation	Myeloproliferative neoplasm	On the basis of the detection of JAK2, CBL, CBLB, TET2, ASXL1, and IDH1/2 mutations in myelodysplastic/myeloproliferative neoplasms, we hypothesized that they may also contribute to progression in CML.
21343549	Mutation	Acute Myeloid Leukemia	TET2 mutations, found in 23% of patients, were associated with older age (P < .001) and higher pretreatment WBC (P = .04) compared with wild-type TET2 (TET2-wt).
21188113	Mutation	myeloproliferative neoplasm	Among 146 MPN patients, we identified two patients (1.4%) who showed a common 4q24 deletion, including TET2.
21087791	Mutation	Chronic Myelomonocytic Leukemia	A TET2 deletion was found in one patient with chronic myelomonocytic leukemia suggesting that fluorescence in situ hybridization may have a role in identification of TET2 deletions, at least in this group of patients.
20068184	Mutation	Myeloproliferative Neoplasm	Analysis of 14 patients for which paired samples from MPN and sAML were available showed that TET2 mutations were frequently acquired at leukemic transformation [6 of 14 (43%)].
20061559	Mutation	Myeloproliferative Neoplasm	In 4 of 8 myeloproliferative neoplasm patients, we found that some colonies with mutated TET2 carried wild-type JAK2, whereas others were JAK2-V617F positive, indicating that TET2 occurred before JAK2-V617F.

Summary
Symbol	TET2
Name	tet methylcytosine dioxygenase 2
Aliases	FLJ20032; KIAA1546; tet oncogene family member 2; probable methylcytosine dioxygenase TET2; Methylcytosine d ......
Location	4q24
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Post-translational modification (PTM)

> Post-translational modification (PTM)

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Filter By:

Uniprot ID	Position	Amino Acid	Description	Upstream Enzyme	Affected By Mutation	Amino Acid Sequence Variant
Q6N021	75	S	Phosphoserine	-	Yes	p.S75C (cancer: LUSC)
Q6N021	99	S	Phosphoserine	-	No	None detected
Q6N021	1107	S	Phosphoserine	-	No	None detected
Q6N021	1109	S	Phosphoserine	-	No	None detected
Q6N021	1682	R	Asymmetric dimethylarginine	-	No	None detected

Summary
Symbol	TET2
Name	tet methylcytosine dioxygenase 2
Aliases	FLJ20032; KIAA1546; tet oncogene family member 2; probable methylcytosine dioxygenase TET2; Methylcytosine d ......
Location	4q24
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Expression analysis in primary tumor tissue from TCGA > Expression level in cancer cell line from CCLE > Expression level in human normal tissue from HPA > Text mining based expression change

> The Cancer Genome Atlas (TCGA)

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Differential expression analysis for cancers with more than 10 normal samples

Cancer	Full Name	# N	# T	Median (N)	Median (T)	LogFC	Adj. P	Status
BLCA	Bladder urothelial carcinoma	19	408	4.853	4.73	-0.038	0.869	NS
BRCA	Breast invasive carcinoma	112	1100	5.311	5.135	-0.23	0.000617	NS
CESC	Cervical and endocervical cancers	3	306	4.845	5.138	NA	NA	NA
COAD	Colon adenocarcinoma	41	459	4.963	4.183	-0.801	2.66e-11	Under
ESCA	Esophageal carcinoma	11	185	5.447	5.618	0.082	0.799	NS
GBM	Glioblastoma multiforme	5	166	4.317	4.742	NA	NA	NA
HNSC	Head and Neck squamous cell carcinoma	44	522	5.602	5.062	-0.466	0.000134	NS
KIRC	Kidney renal clear cell carcinoma	72	534	4.975	5.082	0.068	0.346	NS
KIRP	Kidney renal papillary cell carcinoma	32	291	4.596	4.325	-0.317	0.0166	NS
LAML	Acute Myeloid Leukemia	0	173	NA	7.741	NA	NA	NA
LGG	Brain Lower Grade Glioma	0	530	NA	5.381	NA	NA	NA
LIHC	Liver hepatocellular carcinoma	50	373	3.034	2.599	-0.51	1.87e-05	NS
LUAD	Lung adenocarcinoma	59	517	5.119	4.81	-0.176	0.0256	NS
LUSC	Lung squamous cell carcinoma	51	501	5.05	5.119	0.038	0.71	NS
OV	Ovarian serous cystadenocarcinoma	0	307	NA	4.298	NA	NA	NA
PAAD	Pancreatic adenocarcinoma	4	179	4.955	4.76	NA	NA	NA
PCPG	Pheochromocytoma and Paraganglioma	3	184	3.714	4.713	NA	NA	NA
PRAD	Prostate adenocarcinoma	52	498	4.824	4.655	-0.188	0.0292	NS
READ	Rectum adenocarcinoma	10	167	4.89	4.039	-0.931	0.000542	Under
SARC	Sarcoma	2	263	3.686	4.077	NA	NA	NA
SKCM	Skin Cutaneous Melanoma	1	472	4.189	3.911	NA	NA	NA
STAD	Stomach adenocarcinoma	35	415	5.111	5.221	-0.199	0.122	NS
TGCT	Testicular Germ Cell Tumors	0	156	NA	4.259	NA	NA	NA
THCA	Thyroid carcinoma	59	509	4.709	4.513	-0.178	0.0119	NS
THYM	Thymoma	2	120	4.764	4.596	NA	NA	NA
UCEC	Uterine Corpus Endometrial Carcinoma	35	546	5.033	4.606	-0.45	0.000719	NS

> Cancer Cell Line Encyclopedia (CCLE)

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Tissue	Cell Line	Expression Level (Microarray)
Autonomic ganglia	CHP126	6.2
Autonomic ganglia	CHP212	7.4
Autonomic ganglia	IMR32	6.9
Autonomic ganglia	KELLY	7
Autonomic ganglia	KPNRTBM1	6.9
Autonomic ganglia	KPNSI9S	6.3
Autonomic ganglia	KPNYN	7.5
Autonomic ganglia	MHHNB11	5.6
Autonomic ganglia	NB1	7.3
Autonomic ganglia	NH6	7.4
Autonomic ganglia	SHSY5Y	6.7
Autonomic ganglia	SIMA	6.9
Autonomic ganglia	SKNAS	6.7
Autonomic ganglia	SKNBE2	7.4
Autonomic ganglia	SKNDZ	7.3
Autonomic ganglia	SKNFI	6
Autonomic ganglia	SKNSH	6.1
Biliary tract	HUCCT1	6
Biliary tract	HUH28	6.4
Biliary tract	SNU1079	6
Biliary tract	SNU1196	5.7
Biliary tract	SNU245	5.9
Biliary tract	SNU308	6.9
Biliary tract	SNU478	5.7
Bone	143B	6.1
Bone	A673	6.5
Bone	CADOES1	6.3
Bone	CAL78	6
Bone	G292CLONEA141B1	6
Bone	HOS	6.3
Bone	HS706T	6.3
Bone	HS737T	5.7
Bone	HS819T	5.4
Bone	HS821T	6
Bone	HS822T	5.6
Bone	HS863T	6.1
Bone	HS870T	5.8
Bone	HS888T	5.8
Bone	MG63	4.9
Bone	MHHES1	7
Bone	OUMS27	5.7
Bone	RDES	5.8
Bone	SJSA1	6.5
Bone	SKES1	6.4
Bone	SKNMC	6.6
Bone	SW1353	6.3
Bone	T173	5.8
Bone	TC71	6.6
Bone	U2OS	6.4
Breast	AU565	6.6
Breast	BT20	6
Breast	BT474	7.5
Breast	BT483	7.2
Breast	BT549	5.5
Breast	CAL120	6
Breast	CAL148	6.7
Breast	CAL51	7.4
Breast	CAL851	5.1
Breast	CAMA1	7.3
Breast	DU4475	8.7
Breast	EFM192A	6.4
Breast	EFM19	6.5
Breast	EVSAT	6
Breast	HCC1143	5.2
Breast	HCC1187	6.6
Breast	HCC1395	6.7
Breast	HCC1419	6.9
Breast	HCC1428	6.5
Breast	HCC1500	6
Breast	HCC1569	6.4
Breast	HCC1599	5.9
Breast	HCC1806	6.4
Breast	HCC1937	6.3
Breast	HCC1954	6.6
Breast	HCC202	7
Breast	HCC2157	5.8
Breast	HCC2218	6.2
Breast	HCC38	5.8
Breast	HCC70	6.8
Breast	HDQP1	6.2
Breast	HMC18	6.1
Breast	HS274T	5.6
Breast	HS281T	5.7
Breast	HS343T	5.5
Breast	HS578T	5.9
Breast	HS606T	6.1
Breast	HS739T	6.1
Breast	HS742T	5.8
Breast	JIMT1	6
Breast	KPL1	6.5
Breast	MCF7	7.7
Breast	MDAMB134VI	6.2
Breast	MDAMB157	6.6
Breast	MDAMB175VII	6.3
Breast	MDAMB231	5.9
Breast	MDAMB361	6.5
Breast	MDAMB415	6.3
Breast	MDAMB436	5.9
Breast	MDAMB453	7.6
Breast	MDAMB468	6
Breast	SKBR3	7.1
Breast	T47D	6.1
Breast	UACC812	5.7
Breast	UACC893	6.2
Breast	YMB1	6.9
Breast	ZR751	7.3
Breast	ZR7530	7.4
Central nervous system	1321N1	6.5
Central nervous system	42MGBA	6.9
Central nervous system	8MGBA	6.6
Central nervous system	A172	6.2
Central nervous system	AM38	5.5
Central nervous system	BECKER	6.2
Central nervous system	CAS1	5.7
Central nervous system	CCFSTTG1	6.5
Central nervous system	D283MED	6.5
Central nervous system	D341MED	6.7
Central nervous system	DAOY	5.5
Central nervous system	DBTRG05MG	6
Central nervous system	DKMG	7
Central nervous system	GAMG	5.6
Central nervous system	GB1	5
Central nervous system	GI1	6.5
Central nervous system	GMS10	6.9
Central nervous system	GOS3	6.3
Central nervous system	H4	6.1
Central nervous system	HS683	6.2
Central nervous system	KALS1	6.3
Central nervous system	KG1C	5.9
Central nervous system	KNS42	5.7
Central nervous system	KNS60	5.7
Central nervous system	KNS81	5.9
Central nervous system	KS1	6.6
Central nervous system	LN18	6.5
Central nervous system	LN229	6.4
Central nervous system	M059K	6.4
Central nervous system	MOGGCCM	5.4
Central nervous system	MOGGUVW	6
Central nervous system	NMCG1	5.9
Central nervous system	ONS76	6.3
Central nervous system	SF126	6.5
Central nervous system	SF295	6
Central nervous system	SNB19	6.2
Central nervous system	SNU1105	6
Central nervous system	SNU201	5.9
Central nervous system	SNU466	5.7
Central nervous system	SNU489	5.4
Central nervous system	SNU626	6.5
Central nervous system	SNU738	5.4
Central nervous system	SW1088	5.9
Central nervous system	SW1783	5.6
Central nervous system	T98G	6.7
Central nervous system	TM31	5.4
Central nervous system	U118MG	5.5
Central nervous system	U138MG	6.4
Central nervous system	U251MG	6.1
Central nervous system	U87MG	5.7
Central nervous system	YH13	5.6
Central nervous system	YKG1	6.2
Endometrium	AN3CA	6.9
Endometrium	COLO684	6
Endometrium	EFE184	5.1
Endometrium	EN	6.5
Endometrium	ESS1	6.4
Endometrium	HEC108	6.5
Endometrium	HEC151	6.4
Endometrium	HEC1A	6.8
Endometrium	HEC1B	6.2
Endometrium	HEC251	6.1
Endometrium	HEC265	6.2
Endometrium	HEC50B	5.7
Endometrium	HEC59	6.2
Endometrium	HEC6	6.2
Endometrium	ISHIKAWAHERAKLIO02ER	7.2
Endometrium	JHUEM1	6.5
Endometrium	JHUEM2	7.4
Endometrium	JHUEM3	6.1
Endometrium	KLE	5.5
Endometrium	MFE280	5.9
Endometrium	MFE296	6.8
Endometrium	MFE319	6.3
Endometrium	RL952	7
Endometrium	SNGM	6.2
Endometrium	SNU1077	5.6
Endometrium	SNU685	5.7
Endometrium	TEN	5.9
Haematopoietic and lymphoid	697	4.4
Haematopoietic and lymphoid	A3KAW	6.5
Haematopoietic and lymphoid	A4FUK	6
Haematopoietic and lymphoid	ALLSIL	6.7
Haematopoietic and lymphoid	AML193	4.5
Haematopoietic and lymphoid	AMO1	6.2
Haematopoietic and lymphoid	BCP1	5.9
Haematopoietic and lymphoid	BDCM	8.5
Haematopoietic and lymphoid	BL41	6.4
Haematopoietic and lymphoid	BL70	5.2
Haematopoietic and lymphoid	BV173	5.5
Haematopoietic and lymphoid	CA46	6.3
Haematopoietic and lymphoid	CI1	6.6
Haematopoietic and lymphoid	CMK115	7.3
Haematopoietic and lymphoid	CMK86	6.5
Haematopoietic and lymphoid	CMK	7.3
Haematopoietic and lymphoid	CMLT1	7.2
Haematopoietic and lymphoid	COLO775	5.3
Haematopoietic and lymphoid	DAUDI	4.1
Haematopoietic and lymphoid	DB	4.6
Haematopoietic and lymphoid	DEL	6.7
Haematopoietic and lymphoid	DND41	4.2
Haematopoietic and lymphoid	DOHH2	5.3
Haematopoietic and lymphoid	EB1	6
Haematopoietic and lymphoid	EB2	5.8
Haematopoietic and lymphoid	EHEB	7.2
Haematopoietic and lymphoid	EJM	6.1
Haematopoietic and lymphoid	EM2	7.5
Haematopoietic and lymphoid	EOL1	6.8
Haematopoietic and lymphoid	F36P	7
Haematopoietic and lymphoid	GA10	6
Haematopoietic and lymphoid	GDM1	7
Haematopoietic and lymphoid	GRANTA519	6.9
Haematopoietic and lymphoid	HDLM2	6.1
Haematopoietic and lymphoid	HDMYZ	5.9
Haematopoietic and lymphoid	HEL9217	5.9
Haematopoietic and lymphoid	HEL	6.1
Haematopoietic and lymphoid	HH	7.9
Haematopoietic and lymphoid	HL60	8.5
Haematopoietic and lymphoid	HPBALL	6.4
Haematopoietic and lymphoid	HS604T	5.8
Haematopoietic and lymphoid	HS611T	6.8
Haematopoietic and lymphoid	HS616T	5.8
Haematopoietic and lymphoid	HS751T	6
Haematopoietic and lymphoid	HT	4.9
Haematopoietic and lymphoid	HTK	5.4
Haematopoietic and lymphoid	HUNS1	7.3
Haematopoietic and lymphoid	HUT102	7.1
Haematopoietic and lymphoid	HUT78	6.4
Haematopoietic and lymphoid	JEKO1	6.1
Haematopoietic and lymphoid	JK1	6.7
Haematopoietic and lymphoid	JM1	5.9
Haematopoietic and lymphoid	JURKAT	6.2
Haematopoietic and lymphoid	JURLMK1	6.6
Haematopoietic and lymphoid	JVM2	7.4
Haematopoietic and lymphoid	JVM3	7.4
Haematopoietic and lymphoid	K562	5.7
Haematopoietic and lymphoid	KARPAS299	7.1
Haematopoietic and lymphoid	KARPAS422	6.6
Haematopoietic and lymphoid	KARPAS620	6.6
Haematopoietic and lymphoid	KASUMI1	7.3
Haematopoietic and lymphoid	KASUMI2	4.1
Haematopoietic and lymphoid	KASUMI6	6.6
Haematopoietic and lymphoid	KCL22	6.8
Haematopoietic and lymphoid	KE37	5.8
Haematopoietic and lymphoid	KE97	7.5
Haematopoietic and lymphoid	KG1	7.2
Haematopoietic and lymphoid	KHM1B	6
Haematopoietic and lymphoid	KIJK	6.4
Haematopoietic and lymphoid	KMH2	7.3
Haematopoietic and lymphoid	KMM1	6.3
Haematopoietic and lymphoid	KMS11	6.8
Haematopoietic and lymphoid	KMS12BM	6.7
Haematopoietic and lymphoid	KMS18	7.6
Haematopoietic and lymphoid	KMS20	6.1
Haematopoietic and lymphoid	KMS21BM	5.6
Haematopoietic and lymphoid	KMS26	7
Haematopoietic and lymphoid	KMS27	6.1
Haematopoietic and lymphoid	KMS28BM	6.3
Haematopoietic and lymphoid	KMS34	5.4
Haematopoietic and lymphoid	KO52	8.2
Haematopoietic and lymphoid	KOPN8	4.3
Haematopoietic and lymphoid	KU812	7.4
Haematopoietic and lymphoid	KYO1	5.9
Haematopoietic and lymphoid	L1236	6.7
Haematopoietic and lymphoid	L363	7.9
Haematopoietic and lymphoid	L428	6.5
Haematopoietic and lymphoid	L540	6
Haematopoietic and lymphoid	LAMA84	6.4
Haematopoietic and lymphoid	LOUCY	4.2
Haematopoietic and lymphoid	LP1	6.3
Haematopoietic and lymphoid	M07E	7.5
Haematopoietic and lymphoid	MC116	4.6
Haematopoietic and lymphoid	ME1	5.7
Haematopoietic and lymphoid	MEC1	8
Haematopoietic and lymphoid	MEC2	7.4
Haematopoietic and lymphoid	MEG01	6.4
Haematopoietic and lymphoid	MHHCALL2	5.9
Haematopoietic and lymphoid	MHHCALL3	5.6
Haematopoietic and lymphoid	MHHCALL4	6.5
Haematopoietic and lymphoid	MINO	6.5
Haematopoietic and lymphoid	MJ	6.6
Haematopoietic and lymphoid	MM1S	5.8
Haematopoietic and lymphoid	MOLM13	6.8
Haematopoietic and lymphoid	MOLM16	6.2
Haematopoietic and lymphoid	MOLM6	6.3
Haematopoietic and lymphoid	MOLP2	5.7
Haematopoietic and lymphoid	MOLP8	7
Haematopoietic and lymphoid	MOLT13	6.1
Haematopoietic and lymphoid	MOLT16	6.7
Haematopoietic and lymphoid	MOLT4	5.7
Haematopoietic and lymphoid	MONOMAC1	7.6
Haematopoietic and lymphoid	MONOMAC6	7.1
Haematopoietic and lymphoid	MOTN1	6.3
Haematopoietic and lymphoid	MUTZ5	6.2
Haematopoietic and lymphoid	MV411	6.8
Haematopoietic and lymphoid	NALM19	5.8
Haematopoietic and lymphoid	NALM1	5.9
Haematopoietic and lymphoid	NALM6	6.3
Haematopoietic and lymphoid	NAMALWA	6.2
Haematopoietic and lymphoid	NB4	6.2
Haematopoietic and lymphoid	NCIH929	6.5
Haematopoietic and lymphoid	NCO2	6.6
Haematopoietic and lymphoid	NOMO1	8.6
Haematopoietic and lymphoid	NUDHL1	6
Haematopoietic and lymphoid	NUDUL1	6.7
Haematopoietic and lymphoid	OCIAML2	7.3
Haematopoietic and lymphoid	OCIAML3	6.3
Haematopoietic and lymphoid	OCIAML5	7.3
Haematopoietic and lymphoid	OCILY10	5.6
Haematopoietic and lymphoid	OCILY19	6
Haematopoietic and lymphoid	OCILY3	6.6
Haematopoietic and lymphoid	OCIM1	6.9
Haematopoietic and lymphoid	OPM2	7
Haematopoietic and lymphoid	P12ICHIKAWA	6
Haematopoietic and lymphoid	P31FUJ	6.6
Haematopoietic and lymphoid	P3HR1	4.9
Haematopoietic and lymphoid	PCM6	6.9
Haematopoietic and lymphoid	PEER	6.9
Haematopoietic and lymphoid	PF382	5.8
Haematopoietic and lymphoid	PFEIFFER	6.3
Haematopoietic and lymphoid	PL21	5.4
Haematopoietic and lymphoid	RAJI	5.5
Haematopoietic and lymphoid	RCHACV	6.1
Haematopoietic and lymphoid	REC1	7.5
Haematopoietic and lymphoid	REH	7.1
Haematopoietic and lymphoid	RI1	5.8
Haematopoietic and lymphoid	RL	5.5
Haematopoietic and lymphoid	RPMI8226	5.4
Haematopoietic and lymphoid	RPMI8402	5.9
Haematopoietic and lymphoid	RS411	6.3
Haematopoietic and lymphoid	SEM	6.1
Haematopoietic and lymphoid	SET2	7
Haematopoietic and lymphoid	SIGM5	7
Haematopoietic and lymphoid	SKM1	6.1
Haematopoietic and lymphoid	SKMM2	5.9
Haematopoietic and lymphoid	SR786	6.1
Haematopoietic and lymphoid	ST486	6.5
Haematopoietic and lymphoid	SUDHL10	5.4
Haematopoietic and lymphoid	SUDHL1	5.9
Haematopoietic and lymphoid	SUDHL4	4.7
Haematopoietic and lymphoid	SUDHL5	5.8
Haematopoietic and lymphoid	SUDHL6	5.9
Haematopoietic and lymphoid	SUDHL8	6.6
Haematopoietic and lymphoid	SUPB15	6.8
Haematopoietic and lymphoid	SUPHD1	7.9
Haematopoietic and lymphoid	SUPM2	6.7
Haematopoietic and lymphoid	SUPT11	6.5
Haematopoietic and lymphoid	SUPT1	6.3
Haematopoietic and lymphoid	TALL1	4.3
Haematopoietic and lymphoid	TF1	6
Haematopoietic and lymphoid	THP1	6.8
Haematopoietic and lymphoid	TO175T	5.7
Haematopoietic and lymphoid	TOLEDO	6.8
Haematopoietic and lymphoid	U266B1	6.7
Haematopoietic and lymphoid	U937	5.6
Haematopoietic and lymphoid	UT7	7.3
Haematopoietic and lymphoid	WSUDLCL2	4.7
Kidney	769P	6.5
Kidney	786O	5.7
Kidney	A498	5.8
Kidney	A704	7.2
Kidney	ACHN	5.3
Kidney	BFTC909	5.5
Kidney	CAKI1	6.1
Kidney	CAKI2	5.9
Kidney	CAL54	5.8
Kidney	KMRC1	6.2
Kidney	KMRC20	5.8
Kidney	KMRC2	6.4
Kidney	KMRC3	6.4
Kidney	OSRC2	5.3
Kidney	RCC10RGB	5.5
Kidney	SNU1272	5.9
Kidney	SNU349	5.4
Kidney	TUHR10TKB	6.2
Kidney	TUHR14TKB	6.1
Kidney	TUHR4TKB	5.8
Kidney	VMRCRCW	5.2
Kidney	VMRCRCZ	6
Large intestine	C2BBE1	5.8
Large intestine	CCK81	5.9
Large intestine	CL11	6.1
Large intestine	CL14	5
Large intestine	CL34	6.1
Large intestine	CL40	5.9
Large intestine	COLO205	6
Large intestine	COLO320	7.1
Large intestine	COLO678	6.4
Large intestine	CW2	6.1
Large intestine	DLD1	6.2
Large intestine	GP2D	6.9
Large intestine	HCC56	5.8
Large intestine	HCT116	6
Large intestine	HCT15	6.2
Large intestine	HS675T	5.5
Large intestine	HS698T	5.7
Large intestine	HT115	5.3
Large intestine	HT29	5.9
Large intestine	HT55	5.8
Large intestine	KM12	7
Large intestine	LOVO	5.9
Large intestine	LS1034	6.2
Large intestine	LS123	5.2
Large intestine	LS180	6.8
Large intestine	LS411N	6.3
Large intestine	LS513	6
Large intestine	MDST8	5.5
Large intestine	NCIH508	6
Large intestine	NCIH716	6.7
Large intestine	NCIH747	6.1
Large intestine	OUMS23	6.6
Large intestine	RCM1	5.6
Large intestine	RKO	6.1
Large intestine	SKCO1	6.9
Large intestine	SNU1040	6
Large intestine	SNU1197	5.8
Large intestine	SNU175	7.6
Large intestine	SNU283	5.5
Large intestine	SNU407	7.6
Large intestine	SNU503	6.9
Large intestine	SNU61	6.2
Large intestine	SNU81	6.1
Large intestine	SNUC1	5.4
Large intestine	SNUC2A	7.8
Large intestine	SNUC4	7
Large intestine	SNUC5	6.4
Large intestine	SW1116	5.7
Large intestine	SW1417	6.6
Large intestine	SW1463	5.3
Large intestine	SW403	5.7
Large intestine	SW480	5.6
Large intestine	SW48	6.1
Large intestine	SW620	5.3
Large intestine	SW837	6.4
Large intestine	SW948	6
Large intestine	T84	5.6
Liver	ALEXANDERCELLS	5.6
Liver	C3A	5.8
Liver	HEP3B217	6.1
Liver	HEPG2	5.7
Liver	HLE	5.6
Liver	HLF	5.8
Liver	HUH1	5.5
Liver	HUH6	5.5
Liver	HUH7	5.7
Liver	JHH1	5.5
Liver	JHH2	5.8
Liver	JHH4	6.1
Liver	JHH5	6.3
Liver	JHH6	5.6
Liver	JHH7	5.6
Liver	LI7	5.7
Liver	PLCPRF5	5.7
Liver	SKHEP1	5.8
Liver	SNU182	5.7
Liver	SNU387	6
Liver	SNU398	6.5
Liver	SNU423	5.3
Liver	SNU449	6.3
Liver	SNU475	6
Liver	SNU761	5.8
Liver	SNU878	5.5
Liver	SNU886	5.2
Lung	A549	5.8
Lung	ABC1	7.2
Lung	BEN	5.9
Lung	CAL12T	6.1
Lung	CALU1	5.4
Lung	CALU3	6
Lung	CALU6	6.3
Lung	CHAGOK1	7
Lung	COLO668	6.6
Lung	COLO699	5.5
Lung	CORL105	5.4
Lung	CORL23	5.5
Lung	CORL24	7
Lung	CORL279	6.1
Lung	CORL311	6.3
Lung	CORL47	6.4
Lung	CORL51	6.2
Lung	CORL88	6.9
Lung	CORL95	6.5
Lung	CPCN	6.8
Lung	DMS114	5.8
Lung	DMS153	7.1
Lung	DMS273	6.2
Lung	DMS454	5.9
Lung	DMS53	5.3
Lung	DMS79	6
Lung	DV90	6.3
Lung	EBC1	5.5
Lung	EPLC272H	5.6
Lung	HARA	6.8
Lung	HCC1171	6.2
Lung	HCC1195	6
Lung	HCC15	5.9
Lung	HCC2279	6
Lung	HCC2935	6.6
Lung	HCC33	6.9
Lung	HCC366	5.9
Lung	HCC4006	6.1
Lung	HCC44	5.9
Lung	HCC78	6.2
Lung	HCC827	6
Lung	HCC95	6.1
Lung	HLC1	6.4
Lung	HLFA	5.8
Lung	HS229T	5.8
Lung	HS618T	5.6
Lung	IALM	5.5
Lung	KNS62	5.9
Lung	LC1F	5.8
Lung	LC1SQSF	6.7
Lung	LCLC103H	5.6
Lung	LCLC97TM1	6.3
Lung	LK2	7.9
Lung	LOUNH91	5.4
Lung	LU65	4.4
Lung	LU99	5.7
Lung	LUDLU1	5.6
Lung	LXF289	5.5
Lung	MORCPR	6
Lung	NCIH1048	7.8
Lung	NCIH1092	7.8
Lung	NCIH1105	7
Lung	NCIH1155	6.8
Lung	NCIH1184	7.2
Lung	NCIH1299	5.7
Lung	NCIH1339	7.1
Lung	NCIH1341	7.5
Lung	NCIH1355	6.3
Lung	NCIH1373	6.5
Lung	NCIH1385	6.5
Lung	NCIH1395	5.6
Lung	NCIH1435	5.8
Lung	NCIH1436	7.8
Lung	NCIH1437	5.4
Lung	NCIH146	5.8
Lung	NCIH1563	6.2
Lung	NCIH1568	5.8
Lung	NCIH1573	7.3
Lung	NCIH1581	6.3
Lung	NCIH1618	7.4
Lung	NCIH1623	6.4
Lung	NCIH1648	6.2
Lung	NCIH1650	6.3
Lung	NCIH1651	6.2
Lung	NCIH1666	6.5
Lung	NCIH1693	6.2
Lung	NCIH1694	7.4
Lung	NCIH1703	6.5
Lung	NCIH1734	6.2
Lung	NCIH1755	6.1
Lung	NCIH1781	7.9
Lung	NCIH1792	5.9
Lung	NCIH1793	5.8
Lung	NCIH1836	7.1
Lung	NCIH1838	5.4
Lung	NCIH1869	6.1
Lung	NCIH1876	7.5
Lung	NCIH1915	5.4
Lung	NCIH1930	6.4
Lung	NCIH1944	6
Lung	NCIH1963	7.3
Lung	NCIH196	7.2
Lung	NCIH1975	5.7
Lung	NCIH2009	5.8
Lung	NCIH2023	6.2
Lung	NCIH2029	6.7
Lung	NCIH2030	5.9
Lung	NCIH2066	7.1
Lung	NCIH2081	6.5
Lung	NCIH2085	6.3
Lung	NCIH2087	5.5
Lung	NCIH209	6.6
Lung	NCIH2106	5.5
Lung	NCIH2110	5.9
Lung	NCIH211	5.9
Lung	NCIH2122	6.2
Lung	NCIH2126	6.2
Lung	NCIH2141	6.3
Lung	NCIH2170	6.5
Lung	NCIH2171	6.5
Lung	NCIH2172	6.1
Lung	NCIH2196	5.6
Lung	NCIH2227	7.1
Lung	NCIH2228	5.2
Lung	NCIH226	5.7
Lung	NCIH2286	6.7
Lung	NCIH2291	5.4
Lung	NCIH2342	8.4
Lung	NCIH2347	6
Lung	NCIH23	5.6
Lung	NCIH2405	6.2
Lung	NCIH2444	5.4
Lung	NCIH292	5.5
Lung	NCIH322	6.7
Lung	NCIH3255	6
Lung	NCIH358	6.7
Lung	NCIH441	6.5
Lung	NCIH446	5.9
Lung	NCIH460	5.8
Lung	NCIH510	6.1
Lung	NCIH520	6.5
Lung	NCIH522	6.2
Lung	NCIH524	6.1
Lung	NCIH526	5.8
Lung	NCIH596	6.9
Lung	NCIH647	6
Lung	NCIH650	6.3
Lung	NCIH661	6.2
Lung	NCIH69	5.9
Lung	NCIH727	5.8
Lung	NCIH810	7.1
Lung	NCIH82	5.8
Lung	NCIH838	6.5
Lung	NCIH841	6.4
Lung	NCIH854	5.8
Lung	NCIH889	6.5
Lung	PC14	5.7
Lung	RERFLCAD1	6.3
Lung	RERFLCAD2	6.1
Lung	RERFLCAI	6
Lung	RERFLCKJ	5.8
Lung	RERFLCMS	5.8
Lung	RERFLCSQ1	6.5
Lung	SBC5	6.3
Lung	SCLC21H	6.6
Lung	SHP77	5.9
Lung	SKLU1	6.1
Lung	SKMES1	6
Lung	SQ1	5.5
Lung	SW1271	5.7
Lung	SW1573	5.6
Lung	SW900	5.9
Lung	VMRCLCD	6.1
Lung	VMRCLCP	6.9
Oesophagus	COLO680N	5.7
Oesophagus	ECGI10	6.3
Oesophagus	KYSE140	6.6
Oesophagus	KYSE150	5.8
Oesophagus	KYSE180	6.2
Oesophagus	KYSE270	5.9
Oesophagus	KYSE30	6.5
Oesophagus	KYSE410	6.4
Oesophagus	KYSE450	5.7
Oesophagus	KYSE510	6
Oesophagus	KYSE520	5.5
Oesophagus	KYSE70	6.2
Oesophagus	OE19	6.1
Oesophagus	OE33	6.4
Oesophagus	TE10	7.6
Oesophagus	TE11	6.3
Oesophagus	TE14	6.2
Oesophagus	TE15	6.1
Oesophagus	TE1	5.9
Oesophagus	TE4	6
Oesophagus	TE5	6.1
Oesophagus	TE6	6.2
Oesophagus	TE8	6.1
Oesophagus	TE9	6.9
Oesophagus	TT	7
Ovary	59M	5.4
Ovary	A2780	7.9
Ovary	CAOV3	5.8
Ovary	CAOV4	6.7
Ovary	COLO704	6.8
Ovary	COV318	6.2
Ovary	COV362	5.8
Ovary	COV434	6.7
Ovary	COV504	5.9
Ovary	COV644	5.8
Ovary	EFO21	5.8
Ovary	EFO27	6.5
Ovary	ES2	5.7
Ovary	FUOV1	5.8
Ovary	HEYA8	5.9
Ovary	HS571T	5.5
Ovary	IGROV1	6.7
Ovary	JHOC5	5.8
Ovary	JHOM1	6.4
Ovary	JHOM2B	6.8
Ovary	JHOS2	6
Ovary	JHOS4	6.5
Ovary	KURAMOCHI	5.8
Ovary	MCAS	6.3
Ovary	NIHOVCAR3	6.6
Ovary	OAW28	6.2
Ovary	OAW42	5.7
Ovary	OC314	6
Ovary	OC316	5.9
Ovary	ONCODG1	6
Ovary	OV56	5.9
Ovary	OV7	5.2
Ovary	OV90	6.6
Ovary	OVCAR4	5.8
Ovary	OVCAR8	6
Ovary	OVISE	5.8
Ovary	OVK18	6.7
Ovary	OVKATE	7.4
Ovary	OVMANA	6.8
Ovary	OVSAHO	5.4
Ovary	OVTOKO	6.3
Ovary	RMGI	5.4
Ovary	RMUGS	6.1
Ovary	SKOV3	6
Ovary	SNU119	5
Ovary	SNU840	5.9
Ovary	SNU8	6.3
Ovary	TOV112D	6.3
Ovary	TOV21G	6.7
Ovary	TYKNU	6.2
Pancreas	ASPC1	6.1
Pancreas	BXPC3	5.7
Pancreas	CAPAN1	6.2
Pancreas	CAPAN2	6.9
Pancreas	CFPAC1	6.4
Pancreas	DANG	5.8
Pancreas	HPAC	7.5
Pancreas	HPAFII	5.6
Pancreas	HS766T	5.6
Pancreas	HUPT3	6.3
Pancreas	HUPT4	5.9
Pancreas	KCIMOH1	6.7
Pancreas	KLM1	5.3
Pancreas	KP2	6.4
Pancreas	KP3	6.3
Pancreas	KP4	5.6
Pancreas	L33	6.5
Pancreas	MIAPACA2	7
Pancreas	PANC0203	6.2
Pancreas	PANC0213	5.9
Pancreas	PANC0327	6.5
Pancreas	PANC0403	6.8
Pancreas	PANC0504	6.7
Pancreas	PANC0813	6.2
Pancreas	PANC1005	5.7
Pancreas	PANC1	5.6
Pancreas	PATU8902	5.6
Pancreas	PATU8988S	5.7
Pancreas	PATU8988T	5.3
Pancreas	PK1	6.4
Pancreas	PK45H	5.7
Pancreas	PK59	6
Pancreas	PL45	5.7
Pancreas	PSN1	5.8
Pancreas	QGP1	6.7
Pancreas	SNU213	6.5
Pancreas	SNU324	6.4
Pancreas	SNU410	5.7
Pancreas	SU8686	6.5
Pancreas	SUIT2	6.5
Pancreas	SW1990	6.3
Pancreas	T3M4	6.6
Pancreas	TCCPAN2	5.2
Pancreas	YAPC	6.4
Pleura	ACCMESO1	6
Pleura	DM3	5.4
Pleura	ISTMES1	5.7
Pleura	ISTMES2	6.5
Pleura	JL1	5.6
Pleura	MPP89	5.9
Pleura	MSTO211H	6.4
Pleura	NCIH2052	5.2
Pleura	NCIH2452	5.3
Pleura	NCIH28	5.8
Prostate	22RV1	6.6
Prostate	DU145	5.8
Prostate	LNCAPCLONEFGC	6.1
Prostate	MDAPCA2B	7.2
Prostate	NCIH660	6.2
Prostate	PC3	5.3
Prostate	VCAP	6.1
Salivary gland	A253	7.2
Salivary gland	YD15	5.7
Skin	A101D	5.5
Skin	A2058	5.8
Skin	A375	5.6
Skin	C32	6.2
Skin	CHL1	6.4
Skin	CJM	6.3
Skin	COLO679	5.5
Skin	COLO741	5.6
Skin	COLO783	6
Skin	COLO792	6
Skin	COLO800	6.2
Skin	COLO818	6
Skin	COLO829	6
Skin	COLO849	5.7
Skin	G361	5.8
Skin	GRM	5.7
Skin	HMCB	6.5
Skin	HS294T	6
Skin	HS600T	5.3
Skin	HS688AT	5.7
Skin	HS695T	6.1
Skin	HS839T	5.3
Skin	HS852T	7
Skin	HS895T	5.8
Skin	HS934T	5.5
Skin	HS936T	5.5
Skin	HS939T	5.5
Skin	HS940T	6
Skin	HS944T	5.5
Skin	HT144	6.1
Skin	IGR1	6
Skin	IGR37	5.3
Skin	IGR39	5.5
Skin	IPC298	5.5
Skin	K029AX	5.5
Skin	LOXIMVI	5.3
Skin	MALME3M	6
Skin	MDAMB435S	5.8
Skin	MELHO	5.9
Skin	MELJUSO	6.2
Skin	MEWO	6.5
Skin	RPMI7951	6.6
Skin	RVH421	6.1
Skin	SH4	6
Skin	SKMEL1	6.1
Skin	SKMEL24	5.9
Skin	SKMEL28	5.2
Skin	SKMEL2	5.7
Skin	SKMEL30	5.2
Skin	SKMEL31	5.9
Skin	SKMEL3	5.7
Skin	SKMEL5	5.3
Skin	UACC257	5.4
Skin	UACC62	5.6
Skin	WM115	6.7
Skin	WM1799	5.9
Skin	WM2664	5.7
Skin	WM793	6.5
Skin	WM88	6.2
Skin	WM983B	5.7
Small intestine	HUTU80	6.8
Soft tissue	A204	6.3
Soft tissue	G401	6.3
Soft tissue	G402	6.6
Soft tissue	GCT	5.9
Soft tissue	HS729	6.1
Soft tissue	HT1080	6.4
Soft tissue	KYM1	6.7
Soft tissue	MESSA	6.4
Soft tissue	RD	6.3
Soft tissue	RH30	5.4
Soft tissue	RH41	6.1
Soft tissue	RKN	6
Soft tissue	S117	5.5
Soft tissue	SJRH30	6.3
Soft tissue	SKLMS1	5.6
Soft tissue	SKUT1	6.5
Soft tissue	TE125T	5.6
Soft tissue	TE159T	5.7
Soft tissue	TE441T	7.3
Soft tissue	TE617T	6.7
Stomach	2313287	7.5
Stomach	AGS	7.4
Stomach	AZ521	6.9
Stomach	ECC10	6.6
Stomach	ECC12	7.4
Stomach	FU97	5.3
Stomach	GCIY	5.5
Stomach	GSS	6.2
Stomach	GSU	6.1
Stomach	HGC27	6.1
Stomach	HS746T	5.6
Stomach	HUG1N	5.5
Stomach	IM95	6.1
Stomach	KATOIII	6.2
Stomach	KE39	6
Stomach	LMSU	6.2
Stomach	MKN1	5.7
Stomach	MKN45	7
Stomach	MKN74	7.3
Stomach	MKN7	5.8
Stomach	NCCSTCK140	6.3
Stomach	NCIN87	6.6
Stomach	NUGC2	5.5
Stomach	NUGC3	5.6
Stomach	NUGC4	6.3
Stomach	OCUM1	6
Stomach	RERFGC1B	5.9
Stomach	SH10TC	5.6
Stomach	SNU16	6.3
Stomach	SNU1	7
Stomach	SNU216	6.4
Stomach	SNU520	6.5
Stomach	SNU5	5.4
Stomach	SNU601	5.8
Stomach	SNU620	6.4
Stomach	SNU668	6.2
Stomach	SNU719	5.7
Stomach	TGBC11TKB	6.9
Thyroid	8305C	5.5
Thyroid	8505C	6.3
Thyroid	BCPAP	6.8
Thyroid	BHT101	5.7
Thyroid	CAL62	5.2
Thyroid	CGTHW1	5.9
Thyroid	FTC133	5.8
Thyroid	FTC238	5.9
Thyroid	ML1	6.8
Thyroid	SW579	6
Thyroid	TT2609C02	5.4
Thyroid	TT	6.4
Upper aerodigestive tract	BHY	5.5
Upper aerodigestive tract	BICR16	5.6
Upper aerodigestive tract	BICR18	6.1
Upper aerodigestive tract	BICR22	5.7
Upper aerodigestive tract	BICR31	5.8
Upper aerodigestive tract	BICR56	6.9
Upper aerodigestive tract	BICR6	5.9
Upper aerodigestive tract	CAL27	5.6
Upper aerodigestive tract	CAL33	6.1
Upper aerodigestive tract	DETROIT562	6.7
Upper aerodigestive tract	FADU	6.1
Upper aerodigestive tract	HS840T	5.4
Upper aerodigestive tract	HSC2	6.1
Upper aerodigestive tract	HSC3	5.8
Upper aerodigestive tract	HSC4	6.6
Upper aerodigestive tract	PECAPJ15	6.3
Upper aerodigestive tract	PECAPJ34CLONEC12	6.1
Upper aerodigestive tract	PECAPJ41CLONED2	6.1
Upper aerodigestive tract	PECAPJ49	6.1
Upper aerodigestive tract	SCC15	5.8
Upper aerodigestive tract	SCC25	6
Upper aerodigestive tract	SCC4	6
Upper aerodigestive tract	SCC9	6.7
Upper aerodigestive tract	SNU1076	6
Upper aerodigestive tract	SNU1214	7.8
Upper aerodigestive tract	SNU46	5.9
Upper aerodigestive tract	SNU899	6.2
Upper aerodigestive tract	YD10B	6.1
Upper aerodigestive tract	YD38	5.9
Upper aerodigestive tract	YD8	6.2
Urinary tract	5637	6
Urinary tract	639V	5.8
Urinary tract	647V	6
Urinary tract	BC3C	5.6
Urinary tract	BFTC905	6
Urinary tract	CAL29	6.3
Urinary tract	HS172T	5.7
Urinary tract	HT1197	6
Urinary tract	HT1376	7.8
Urinary tract	J82	5.8
Urinary tract	JMSU1	6.3
Urinary tract	KMBC2	6.6
Urinary tract	KU1919	6.7
Urinary tract	RT11284	5.9
Urinary tract	RT112	5.8
Urinary tract	RT4	7.1
Urinary tract	SCABER	6.7
Urinary tract	SW1710	5.2
Urinary tract	SW780	6.6
Urinary tract	T24	5.7
Urinary tract	TCCSUP	5.4
Urinary tract	UMUC1	5.6
Urinary tract	UMUC3	5.8
Urinary tract	VMCUB1	5.9

> The Human Protein Atlas (HPA)

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Tissue	Expression Level (TPM)
Adipose tissue	4.9
Adrenal gland	4.1
Appendix	14.2
Bone marrow	15.8
Breast	7.4
Cerebral cortex	4.8
Cervix, uterine	10.1
Colon	5.5
Duodenum	6.9
Endometrium	13.3
Epididymis	6.8
Esophagus	8.8
Fallopian tube	8.5
Gallbladder	8.3
Heart muscle	2.4
Kidney	4.6
Liver	2.3
Lung	8.2
Lymph node	6.5
Ovary	6.3
Pancreas	0.8
Parathyroid gland	9.4
Placenta	14.7
Prostate	7
Rectum	7.2
Salivary gland	2.2
Seminal vesicle	4.7
Skeletal muscle	0.7
Skin	13.1
Small intestine	7.4
Smooth muscle	9.1
Spleen	9.8
Stomach	5.3
Testis	3
Thyroid gland	7.7
Tonsil	7
Urinary bladder	7.5

> Text Mining based Expression

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PMID	Expression	Cancer	Evidence
27644645	Underexpression (hypermethylation)	Acute Lymphoblastic Leukemia	The results revealed that hypermethylation and downregulation of TET2 gene may play a role in predisposition to childhood ALL.
27027260	Underexpression	Gastric Carcinoma	Here, we show that TET2 mRNA and protein levels are downregulated in human gastric cancer tissues when compared with normal gastric mucosa.
26984174	Mutation; Underexpression	Myeloid neoplasm; myelodysplastic syndrome; Acute Myeloid Leukemia	TET2 mutations were observed in 8 out of 19 patients (42%) with myeloid neoplasms. Our results suggest that TET2 expression is reduced in MDS/AML patients, independently of mutational status.
26851753	Underexpression	Cervical Squamous Cell Carcinoma	Moreover, expression of TET2, but not TET1 and TET3, was decreased in cervical squamous cell carcinoma.
26816554	altered expression	Colorectal Carcinoma	In CRC cells, nuclear expression of TET2 were absent but not TET3.
26366235	Underexpression	Hepatocellular Carcinoma	Our data applying qPCR, immunofluorescence, and Western blotting clearly show that TET2 and TET3 but not TET1 were significantly decreased in HCC tissue and different HCC cell lines compared to non-tumor liver tissues and hHeps.
26277372	Mutation; Underexpression	Myelodysplastic Syndrome	Mutations in TET2 gene are found in about 20-25% of adult MDS and are associated with a decrease in 5-hydroxymethylcytosine (5-hmC) content. TET2 expression and 5-hmC levels were decreased in patients when compared to a disease-free group.
26253945	Underexpression	Invasive Ductal Breast Carcinoma	5 mC, 5 hmC, TET1-n, and TET2-n were significantly decreased during DCIS and IDC progression.
26093090	Underexpression	Esophageal Squamous Cell Carcinoma	TET2 expression was significantly lower in ESCCs than paired normal tissues (P < 0.0001), and significantly associated with 5-hmC levels in ESCCs (P = 0.003, r = 0.33).
25827305	Underexpression	Ovarian Carcinoma	We discovered a significant decrease in 5-hmC and TET2 expression in EOC compared with normal ovarian tissues.
25557833	Underexpression	Colorectal Carcinoma	We found reduced transcript levels of TET1, TET2 and TET3 in cancerous tissue compared with their histopathologically unchanged counterparts (p = 0.000011; p = 0.000001; p = 0.00031, respectively).
25246247	Underexpression	Acute Myeloid Leukemia	The level of TET2 mRNA is significantly lower in patients with CN-AML and it is an independent negative prognostic factor.
25200248	Underexpression	Acute Myeloid Leukemia; myelodysplastic syndrome	A significantly decreased TET2 expression was observed in bone marrow cells from AML (n = 53) and patients with MDS (n = 64), compared to normal donors (n = 22).
25098926	Underexpression	Gastric Carcinoma	The expressions of TET1, TET2, TET3, TDG and IDH2, but not IDH1, were notably decreased in GCs, compared with the adjacent non-tumor portion.
24994606	Underexpression	Acute Myeloid Leukemia	Notably, also AML patients with low TET2 mRNA expression levels showed inferior overall survival.
24693539	Overexpression	Chronic Lymphocytic Leukemia	Overexpression of TET2 was observed in B-cell lymphocytes from CLL patients compared with healthy donors (P = 0.004).
24122999	Underexpression	Oral Squamous Cell Carcinoma	A significant decrease in 5hmC and TET2 expression was found in OSCC compared to healthy oral epithelium.
23827711	Underexpression	myelodysplastic syndrome	Downregulation of TET2 protein also correlated with poor clinical outcomes and miR-22 overexpression in MDS patients.
23458759	Underexpression	Melanoma	We have shown that 5hmC levels and TET2 expression are significantly reduced in advanced melanomas compared with nevi and thin melanomas.
23691452	Underexpression	Myelodysplastic Syndrome	The expression of TET2 mRNA in BMMNC was down-regulated in MDS patients compared with the donor group [(0.41±0.28)% vs. (1.07±0.56)%] (P<0.001).
21794915	underexpression (mutation)	Chronic Myeloid Leukemia	In this study, we report a chronic myeloid leukemia (CML) case showing a TET2 single copy partial deletion associated to a t(4;6;11) rearrangement, appearing during the progression of the disease and responsible for a decreased TET2 gene expression.

Summary
Symbol	TET2
Name	tet methylcytosine dioxygenase 2
Aliases	FLJ20032; KIAA1546; tet oncogene family member 2; probable methylcytosine dioxygenase TET2; Methylcytosine d ......
Location	4q24
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Somatic copy number alteration in primary tomur tissue

> The Cancer Genome Atlas (TCGA)

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Correlation between expression and SCNA as well as percentage of patients in different status.

Cancer	Full Name	# Sample	R	P	% Loss	% Neutral	% Gain	Status
BLCA	Bladder urothelial carcinoma	404	0.264	7.24e-08	36.6	55.7	7.7	Loss
BRCA	Breast invasive carcinoma	1075	0.359	3.99e-34	29.5	60.9	9.6	Neutral
CESC	Cervical and endocervical cancers	292	0.407	4.62e-13	32.5	61.3	6.2	Neutral
COAD	Colon adenocarcinoma	449	0.326	1.32e-12	29.8	66.4	3.8	Neutral
ESCA	Esophageal carcinoma	183	0.447	2.2e-10	53	36.1	10.9	Loss
GBM	Glioblastoma multiforme	147	0.014	0.865	13.6	82.3	4.1	Neutral
HNSC	Head and Neck squamous cell carcinoma	514	0.272	3.56e-10	30.4	60.3	9.3	Neutral
KIRC	Kidney renal clear cell carcinoma	525	0.305	9.11e-13	14.3	83.6	2.1	Neutral
KIRP	Kidney renal papillary cell carcinoma	288	0.296	3.01e-07	9	87.2	3.8	Neutral
LAML	Acute Myeloid Leukemia	166	-0.262	0.000641	1.8	97	1.2	Neutral
LGG	Brain Lower Grade Glioma	513	0.253	6.43e-09	20.1	78.8	1.2	Neutral
LIHC	Liver hepatocellular carcinoma	364	0.416	1.14e-16	47	51.1	1.9	Loss
LUAD	Lung adenocarcinoma	512	0.289	2.73e-11	31.4	58.8	9.8	Neutral
LUSC	Lung squamous cell carcinoma	498	0.376	3.83e-18	60.4	33.9	5.6	Loss
OV	Ovarian serous cystadenocarcinoma	300	0.533	2.1e-23	72.7	21.7	5.7	Loss
PAAD	Pancreatic adenocarcinoma	177	0.358	1.02e-06	15.8	78.5	5.6	Neutral
PCPG	Pheochromocytoma and Paraganglioma	162	0.295	0.000141	6.2	90.7	3.1	Neutral
PRAD	Prostate adenocarcinoma	491	0.229	2.74e-07	6.3	91.2	2.4	Neutral
READ	Rectum adenocarcinoma	164	0.324	2.27e-05	44.5	52.4	3	Loss
SARC	Sarcoma	255	0.237	0.000131	25.1	59.6	15.3	Neutral
SKCM	Skin Cutaneous Melanoma	367	0.248	1.53e-06	26.2	61.3	12.5	Neutral
STAD	Stomach adenocarcinoma	413	0.397	5.31e-17	39	56.2	4.8	Loss
TGCT	Testicular Germ Cell Tumors	150	0.138	0.0923	73.3	26.7	0	Loss
THCA	Thyroid carcinoma	497	0.058	0.194	0.4	98.6	1	Neutral
THYM	Thymoma	119	0.155	0.092	3.4	95	1.7	Neutral
UCEC	Uterine Corpus Endometrial Carcinoma	537	0.39	6.61e-21	21	77.1	1.9	Neutral

Summary
Symbol	TET2
Name	tet methylcytosine dioxygenase 2
Aliases	FLJ20032; KIAA1546; tet oncogene family member 2; probable methylcytosine dioxygenase TET2; Methylcytosine d ......
Location	4q24
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Methylation level in the promoter region of CR

> Methylation level in the promoter region of CR

[ TOP ]

Correlation between expression and methylation as well as differential methylation analysis.

Cancer	Full Name	R	P	# N	# T	Delta beta (T vs N)	P value (T vs N)	Status
BLCA	Bladder urothelial carcinoma	-0.378	5.38e-16	17	408	-0.131	3.25e-17	NS/NA
BRCA	Breast invasive carcinoma	-0.205	1.13e-09	83	785	0.003	3.04e-09	NS/NA
CESC	Cervical and endocervical cancers	-0.338	1.4e-09	3	306	NA	NA	NS/NA
COAD	Colon adenocarcinoma	-0.101	0.0722	19	297	0.051	0.0255	NS/NA
ESCA	Esophageal carcinoma	-0.211	0.00316	9	185	NA	NA	NS/NA
GBM	Glioblastoma multiforme	-0.172	0.171	1	64	NA	NA	NS/NA
HNSC	Head and Neck squamous cell carcinoma	-0.259	1.09e-09	20	522	0.004	6.59e-06	NS/NA
KIRC	Kidney renal clear cell carcinoma	-0.202	0.000176	24	319	-0.151	8.11e-10	NS/NA
KIRP	Kidney renal papillary cell carcinoma	-0.286	5.75e-07	23	275	-0.021	0.00023	NS/NA
LAML	Acute Myeloid Leukemia	-0.219	0.00412	0	170	NA	NA	NS/NA
LGG	Brain Lower Grade Glioma	-0.131	0.0026	0	530	NA	NA	NS/NA
LIHC	Liver hepatocellular carcinoma	-0.219	7.25e-06	41	373	0.01	1.12e-22	NS/NA
LUAD	Lung adenocarcinoma	-0.153	0.000795	21	456	-0.009	0.649	NS/NA
LUSC	Lung squamous cell carcinoma	-0.339	1.65e-11	8	370	NA	NA	NS/NA
OV	Ovarian serous cystadenocarcinoma	-0.75	0.0255	0	9	NA	NA	NS/NA
PAAD	Pancreatic adenocarcinoma	-0.083	0.262	4	179	NA	NA	NS/NA
PCPG	Pheochromocytoma and Paraganglioma	-0.309	1.88e-05	3	184	NA	NA	NS/NA
PRAD	Prostate adenocarcinoma	-0.215	5.71e-07	35	498	0.025	0.00744	NS/NA
READ	Rectum adenocarcinoma	-0.251	0.0115	2	99	NA	NA	NS/NA
SARC	Sarcoma	-0.269	1.08e-05	0	263	NA	NA	NS/NA
SKCM	Skin Cutaneous Melanoma	-0.364	2.98e-16	1	471	NA	NA	NS/NA
STAD	Stomach adenocarcinoma	-0.229	8.32e-06	0	372	NA	NA	NS/NA
TGCT	Testicular Germ Cell Tumors	-0.516	0	0	156	NA	NA	NS/NA
THCA	Thyroid carcinoma	-0.134	0.00151	50	509	0.008	9.86e-11	NS/NA
THYM	Thymoma	-0.558	0	2	120	NA	NA	NS/NA
UCEC	Uterine Corpus Endometrial Carcinoma	-0.258	1.99e-08	34	431	0.011	0.153	NS/NA

Summary
Symbol	TET2
Name	tet methylcytosine dioxygenase 2
Aliases	FLJ20032; KIAA1546; tet oncogene family member 2; probable methylcytosine dioxygenase TET2; Methylcytosine d ......
Location	4q24
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Primary tumor tissue from TCGA > Normal tumor tissue from HPA

>The Cancer Genome Atlas (TCGA) [ TOP ]
There is no record.

> The Human Protein Atlas (HPA)

[ TOP ]

Tissue	Level	Level Name
Adrenal gland	3	High
Appendix	2	Medium
Bone marrow	3	High
Breast	3	High
Bronchus	3	High
Caudate	3	High
Cerebellum	3	High
Cerebral cortex	2	Medium
Cervix, uterine	3	High
Colon	3	High
Duodenum	3	High
Endometrium	2	Medium
Epididymis	2	Medium
Esophagus	3	High
Fallopian tube	3	High
Gallbladder	3	High
Heart muscle	3	High
Hippocampus	3	High
Kidney	3	High
Liver	2	Medium
Lung	2	Medium
Lymph node	3	High
Nasopharynx	3	High
Oral mucosa	3	High
Ovary	2	Medium
Pancreas	2	Medium
Parathyroid gland	2	Medium
Placenta	3	High
Prostate	2	Medium
Rectum	3	High
Salivary gland	3	High
Seminal vesicle	2	Medium
Skeletal muscle	3	High
Skin	3	High
Small intestine	3	High
Smooth muscle	2	Medium
Soft tissue	3	High
Spleen	2	Medium
Stomach	3	High
Testis	3	High
Thyroid gland	3	High
Tonsil	3	High
Urinary bladder	3	High
Vagina	3	High

Summary
Symbol	TET2
Name	tet methylcytosine dioxygenase 2
Aliases	FLJ20032; KIAA1546; tet oncogene family member 2; probable methylcytosine dioxygenase TET2; Methylcytosine d ......
Location	4q24
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Association between expresson and subtype > Overall survival analysis based on expression > Association between expresson and stage > Association between expresson and grade

> Subtype

[ TOP ]

Association between expresson and subtype.

Cancer	Full Name	# Patients	P Value (Kruskal-Wallis)	Association	Source
BLCA	Bladder urothelial carcinoma	128	0.629	NS	24476821
BRCA	Breast invasive carcinoma	521	0.555	NS	23000897
COAD	Colon adenocarcinoma	149	0.000445	Significant	22810696
GBM	Glioblastoma multiforme	157	0.000108	Significant	26824661
HNSC	Head and Neck squamous cell carcinoma	279	2.04e-06	Significant	25631445
KIRP	Kidney renal papillary cell carcinoma	161	0.000448	Significant	26536169
LGG	Brain Lower Grade Glioma	513	9.36e-10	Significant	26824661
LUAD	Lung adenocarcinoma	230	0.0133	Significant	25079552
LUSC	Lung squamous cell carcinoma	178	0.755	NS	22960745
OV	Ovarian serous cystadenocarcinoma	287	0.0068	Significant	21720365
PRAD	Prostate adenocarcinoma	333	1.89e-06	Significant	26544944
READ	Rectum adenocarcinoma	67	0.398	NS	22810696
SKCM	Skin Cutaneous Melanoma	315	0.0256	Significant	26091043
STAD	Stomach adenocarcinoma	277	1.49e-08	Significant	25079317
THCA	Thyroid carcinoma	391	0.145	NS	25417114
UCEC	Uterine Corpus Endometrial Carcinoma	232	2.72e-07	Significant	23636398

> Overall survival

[ TOP ]

Overall survival analysis based on expression.

Cancer	Full Name	# Patients	Hazard Ratio	P Value (Log Rank Test)	Association
BLCA	Bladder urothelial carcinoma	405	0.838	0.413	NS
BRCA	Breast invasive carcinoma	1079	1.342	0.199	NS
CESC	Cervical and endocervical cancers	291	1.003	0.992	NS
COAD	Colon adenocarcinoma	439	0.987	0.963	NS
ESCA	Esophageal carcinoma	184	0.594	0.0925	NS
GBM	Glioblastoma multiforme	158	0.719	0.202	NS
HNSC	Head and Neck squamous cell carcinoma	518	0.643	0.029	Longer
KIRC	Kidney renal clear cell carcinoma	531	0.571	0.0148	Longer
KIRP	Kidney renal papillary cell carcinoma	287	0.578	0.171	NS
LAML	Acute Myeloid Leukemia	149	0.795	0.451	NS
LGG	Brain Lower Grade Glioma	511	0.523	0.0162	Longer
LIHC	Liver hepatocellular carcinoma	365	0.846	0.508	NS
LUAD	Lung adenocarcinoma	502	0.753	0.196	NS
LUSC	Lung squamous cell carcinoma	494	0.751	0.128	NS
OV	Ovarian serous cystadenocarcinoma	303	1.161	0.476	NS
PAAD	Pancreatic adenocarcinoma	177	0.864	0.604	NS
PCPG	Pheochromocytoma and Paraganglioma	179	1441702581.713	0.111	NS
PRAD	Prostate adenocarcinoma	497	4.164	0.23	NS
READ	Rectum adenocarcinoma	159	0.445	0.262	NS
SARC	Sarcoma	259	1.121	0.683	NS
SKCM	Skin Cutaneous Melanoma	459	1.036	0.851	NS
STAD	Stomach adenocarcinoma	388	0.707	0.095	NS
TGCT	Testicular Germ Cell Tumors	134	1	1	NS
THCA	Thyroid carcinoma	500	2.797	0.353	NS
THYM	Thymoma	119	2.125	0.531	NS
UCEC	Uterine Corpus Endometrial Carcinoma	543	0.817	0.487	NS

> Stage

[ TOP ]

Association between expresson and stage.

Cancer	Full Name	# Patients	R Value (Spearman)	P Value (Spearman)	Association
BLCA	Bladder urothelial carcinoma	406	-0.151	0.00227	Lower
BRCA	Breast invasive carcinoma	1071	-0.071	0.0206	Lower
CESC	Cervical and endocervical cancers	167	0.099	0.201	NS
COAD	Colon adenocarcinoma	445	-0.11	0.0205	Lower
ESCA	Esophageal carcinoma	162	-0.108	0.171	NS
HNSC	Head and Neck squamous cell carcinoma	448	-0.018	0.705	NS
KIRC	Kidney renal clear cell carcinoma	531	-0.158	0.000247	Lower
KIRP	Kidney renal papillary cell carcinoma	260	-0.106	0.0884	NS
LIHC	Liver hepatocellular carcinoma	347	0.106	0.0495	Higher
LUAD	Lung adenocarcinoma	507	-0.098	0.0275	Lower
LUSC	Lung squamous cell carcinoma	497	0.013	0.779	NS
OV	Ovarian serous cystadenocarcinoma	302	-0.056	0.328	NS
PAAD	Pancreatic adenocarcinoma	176	-0.017	0.82	NS
READ	Rectum adenocarcinoma	156	-0.048	0.552	NS
SKCM	Skin Cutaneous Melanoma	410	-0.009	0.863	NS
STAD	Stomach adenocarcinoma	392	0.011	0.824	NS
TGCT	Testicular Germ Cell Tumors	81	-0.294	0.00781	Lower
THCA	Thyroid carcinoma	499	-0.124	0.00567	Lower
UCEC	Uterine Corpus Endometrial Carcinoma	501	-0.126	0.00469	Lower

> Grade

[ TOP ]

Association between expresson and grade.

Cancer	Full Name	# Patients	R Value (Spearman)	P Value (Spearman)	Association
CESC	Cervical and endocervical cancers	272	-0.188	0.00186	Lower
HNSC	Head and Neck squamous cell carcinoma	498	-0.073	0.103	NS
KIRC	Kidney renal clear cell carcinoma	525	-0.226	1.65e-07	Lower
LGG	Brain Lower Grade Glioma	514	-0.105	0.0176	Lower
LIHC	Liver hepatocellular carcinoma	366	-0.112	0.0315	Lower
OV	Ovarian serous cystadenocarcinoma	296	-0.156	0.00699	Lower
PAAD	Pancreatic adenocarcinoma	176	-0.021	0.782	NS
STAD	Stomach adenocarcinoma	406	-0.05	0.319	NS
UCEC	Uterine Corpus Endometrial Carcinoma	534	-0.216	4.64e-07	Lower

Summary
Symbol	TET2
Name	tet methylcytosine dioxygenase 2
Aliases	FLJ20032; KIAA1546; tet oncogene family member 2; probable methylcytosine dioxygenase TET2; Methylcytosine d ......
Location	4q24
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Targets inferred by reverse engineering method > Targets identified by ChIP-seq data

> Targets inferred by reverse engineering method [ TOP ]

> Targets identified by ChIP-seq data [ TOP ]

Summary
Symbol	TET2
Name	tet methylcytosine dioxygenase 2
Aliases	FLJ20032; KIAA1546; tet oncogene family member 2; probable methylcytosine dioxygenase TET2; Methylcytosine d ......
Location	4q24
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Drugs from DrugBank database

> Drugs from DrugBank database [ TOP ]
There is no record for TET2.

Summary
Symbol	TET2
Name	tet methylcytosine dioxygenase 2
Aliases	FLJ20032; KIAA1546; tet oncogene family member 2; probable methylcytosine dioxygenase TET2; Methylcytosine d ......
Location	4q24
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Protein-Protein Interaction Network > miRNA Regulatory Relationship > Interactions from Text Mining

> Protein-Protein Interaction Network [ TOP ]

> miRNA Regulatory Relationship [ TOP ]

> Interactions from Text Mining

[ TOP ]

PMID	Cancer	Hierarchy	Gene	Relation to CR	Evidence
27027260	Gastric Carcinoma	downstream	ANRIL; INK4a; INK4b; ARF	regulation	The mechanism study shows that TET2 binds to the promoter region of the oncogenic long noncoding RNA (lncRNA-ANRIL) and regulates the expression of ANRIL and its downstream genes (INK4a, INK4b, and ARF).
26277372	Myelodysplastic Syndrome	partner	miR-22; TET2	Negative correlation; positive correlation	Mutations in TET2 gene are found in about 20-25% of adult MDS and are associated with a decrease in 5-hydroxymethylcytosine (5-hmC) content. TET2 expression and 5-hmC levels were decreased in patients when compared to a disease-free group. These findings suggested that TET2 downregulation and low levels of 5-hmC are inversely related to miR-22 expression.
26093090	Esophageal Squamous Cell Carcinoma	partner	5-hmC	Association	In conclusion, 5-hmC expression was decreased in ESCC tissues, and was associated with TET2 expression level
25601757	Acute Myeloid Leukemia	partner	WT1	mutual exclusive	Our results also provide an explanation for the mutual exclusivity ofWT1andTET2mutationsin AML, and suggest an IDH1/2-TET2-WT1pathway in suppressing AML.
23985253	Prostate Carcinoma	partner	FAM84B; LMTK2; FAM84B	Collaboration	There may be obvious association of FAM84B (rs12543663, C) gene with prostate cancer risk and the stages, and the synergistic effects of TET2 (rs7679673, A), LMTK2 (rs6465657, T) and FAM84B (rs12543663, C) genes may have an association with prostate cancer risk in Chinese population.