CR2Cancer

Summary
Symbol	KMT2C
Name	lysine methyltransferase 2C
Aliases	KIAA1506; HALR; MLL3; myeloid/lymphoid or mixed-lineage leukemia 3; ALR-like protein; histone-lysine N-methy ......
Location	7q36.1
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

PF05965 F/Y rich C-terminus
PF05964 F/Y-rich N-terminus
PF00628 PHD-finger
PF00856 SET domain

Function

Histone methyltransferase. Methylates 'Lys-4' of histone H3. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. Central component of the MLL2/3 complex, a coactivator complex of nuclear receptors, involved in transcriptional coactivation. KMT2C/MLL3 may be a catalytic subunit of this complex. May be involved in leukemogenesis and developmental disorder.

Classification

Class	Modification	Substrate	Product	PubMed
Histone modification write	Histone methylation	H3K4	H3K4me	20937768

> Gene Ontology [ TOP ]
Biological Process	GO:0006479 protein methylation GO:0008213 protein alkylation GO:0016570 histone modification GO:0016571 histone methylation GO:0018022 peptidyl-lysine methylation GO:0018205 peptidyl-lysine modification GO:0032259 methylation GO:0034968 histone lysine methylation GO:0043414 macromolecule methylation GO:0051568 histone H3-K4 methylation
Molecular Function	GO:0008168 methyltransferase activity GO:0008170 N-methyltransferase activity GO:0008276 protein methyltransferase activity GO:0008757 S-adenosylmethionine-dependent methyltransferase activity GO:0016278 lysine N-methyltransferase activity GO:0016279 protein-lysine N-methyltransferase activity GO:0016741 transferase activity, transferring one-carbon groups GO:0016746 transferase activity, transferring acyl groups GO:0018024 histone-lysine N-methyltransferase activity GO:0042054 histone methyltransferase activity GO:0042800 histone methyltransferase activity (H3-K4 specific)
Cellular Component	GO:0034708 methyltransferase complex GO:0035097 histone methyltransferase complex GO:0044666 MLL3/4 complex

> KEGG and Reactome Pathway [ TOP ]
KEGG	hsa00310 Lysine degradation
Reactome	R-HSA-5619507: Activation of HOX genes during differentiation R-HSA-5617472: Activation of anterior HOX genes in hindbrain development during early embryogenesis R-HSA-3247509: Chromatin modifying enzymes R-HSA-4839726: Chromatin organization R-HSA-1266738: Developmental Biology R-HSA-3214841: PKMTs methylate histone lysines

Summary
Symbol	KMT2C
Name	lysine methyltransferase 2C
Aliases	KIAA1506; HALR; MLL3; myeloid/lymphoid or mixed-lineage leukemia 3; ALR-like protein; histone-lysine N-methy ......
Location	7q36.1
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
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Central_nervous_system
COSM1581242	c.7829G>A	p.R2610Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4594560	c.2591A>G	p.E864G	Substitution - Missense	Skin
COSM4702482	c.11590C>T	p.R3864C	Substitution - Missense	Large_intestine
COSM5019722	c.850-7C>T	p.?	Unknown	Soft_tissue
COSM5014768	c.13310C>T	p.T4437M	Substitution - Missense	Stomach
COSM6006419	c.1951G>A	p.E651K	Substitution - Missense	Central_nervous_system
COSM5075578	c.2749G>A	p.G917R	Substitution - Missense	Kidney
COSM1312867	c.9638C>T	p.S3213L	Substitution - Missense	Urinary_tract
COSM3879533	c.10348C>T	p.Q3450*	Substitution - Nonsense	Stomach
COSM1622592	c.13349T>C	p.V4450A	Substitution - Missense	Liver
COSM228110	c.1042G>A	p.D348N	Substitution - Missense	Soft_tissue
COSM85568	c.5935_5939delCCCAA	p.P1979fs*25	Deletion - Frameshift	Pancreas
COSM1087529	c.12555T>C	p.H4185H	Substitution - coding silent	Endometrium
COSM5935299	c.11986G>A	p.D3996N	Substitution - Missense	Skin
COSM4939524	c.9010C>G	p.L3004V	Substitution - Missense	Liver
COSM745859	c.4828G>C	p.D1610H	Substitution - Missense	Lung
COSM1312873	c.5272C>T	p.R1758C	Substitution - Missense	Urinary_tract
COSM4595028	c.2681G>A	p.R894Q	Substitution - Missense	Soft_tissue
COSM4777789	c.11602_11603insG	p.K3869fs*13	Insertion - Frameshift	Prostate
COSM5752244	c.13498_13526del29	p.T4500fs*4	Deletion - Frameshift	Breast
COSM4406668	c.8683C>T	p.Q2895*	Substitution - Nonsense	Pancreas
COSM5415380	c.12707T>C	p.V4236A	Substitution - Missense	Prostate
COSM5734820	c.6769C>T	p.R2257*	Substitution - Nonsense	Pancreas
COSM745877	c.7807A>T	p.R2603*	Substitution - Nonsense	Lung
COSM4164212	c.4660G>C	p.D1554H	Substitution - Missense	Ovary
COSM1449440	c.5243A>C	p.E1748A	Substitution - Missense	Large_intestine
COSM3304524	c.1576C>T	p.R526C	Substitution - Missense	Skin
COSM1180098	c.1005T>A	p.P335P	Substitution - coding silent	Soft_tissue
COSM1673714	c.4687A>G	p.N1563D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1699629	c.527A>G	p.N176S	Substitution - Missense	Skin
COSM4162018	c.2315C>T	p.S772L	Substitution - Missense	Upper_aerodigestive_tract
COSM4162018	c.2315C>T	p.S772L	Substitution - Missense	Upper_aerodigestive_tract
COSM4162018	c.2315C>T	p.S772L	Substitution - Missense	Upper_aerodigestive_tract
COSM3832374	c.1401T>A	p.C467*	Substitution - Nonsense	Breast
COSM4823289	c.4999G>T	p.E1667*	Substitution - Nonsense	Cervix
COSM485101	c.1049C>G	p.P350R	Substitution - Missense	Kidney
COSM5654110	c.5922G>A	p.M1974I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Central_nervous_system
COSM5746832	c.14510C>T	p.A4837V	Substitution - Missense	Pancreas
COSM228110	c.1042G>A	p.D348N	Substitution - Missense	Skin
COSM1488415	c.325C>T	p.Q109*	Substitution - Nonsense	Skin
COSM4384330	c.6299C>T	p.T2100I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4636154	c.11645C>G	p.T3882S	Substitution - Missense	Large_intestine
COSM5752799	c.1222_1223insA	p.T408fs*3	Insertion - Frameshift	Breast
COSM4603590	c.2448_2449insA	p.I817fs*11	Insertion - Frameshift	Upper_aerodigestive_tract
COSM150428	c.2958A>G	p.P986P	Substitution - coding silent	Central_nervous_system
COSM4162024	c.946A>T	p.T316S	Substitution - Missense	Upper_aerodigestive_tract
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Central_nervous_system
COSM1087582	c.6987A>C	p.G2329G	Substitution - coding silent	Endometrium
COSM1257791	c.13940_13941insA	p.S4648fs*2	Insertion - Frameshift	Stomach
COSM3411845	c.954G>T	p.Q318H	Substitution - Missense	Central_nervous_system
COSM4162006	c.2645T>C	p.I882T	Substitution - Missense	Thyroid
COSM4219285	c.?	p.C394Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3262403	c.14107G>A	p.V4703I	Substitution - Missense	Large_intestine
COSM5426313	c.2613C>T	p.P871P	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM225257	c.2915G>A	p.G972E	Substitution - Missense	Urinary_tract
COSM3785044	c.13252A>G	p.R4418G	Substitution - Missense	Pancreas
COSM150428	c.2958A>G	p.P986P	Substitution - coding silent	Soft_tissue
COSM1622598	c.5592C>T	p.I1864I	Substitution - coding silent	Liver
COSM1744997	c.14027A>G	p.E4676G	Substitution - Missense	Soft_tissue
COSM1159292	c.12469T>C	p.L4157L	Substitution - coding silent	Pancreas
COSM3304248	c.4030delA	p.I1344fs*1	Deletion - Frameshift	Large_intestine
COSM3396684	c.12594T>G	p.C4198W	Substitution - Missense	Prostate
COSM5415246	c.13613T>C	p.I4538T	Substitution - Missense	Endometrium
COSM5738222	c.12464C>T	p.P4155L	Substitution - Missense	Small_intestine
COSM5985264	c.8488A>C	p.N2830H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3832354	c.5568T>C	p.P1856P	Substitution - coding silent	Breast
COSM1635190	c.11827G>A	p.G3943R	Substitution - Missense	Liver
COSM5987752	c.818T>G	p.V273G	Substitution - Missense	Salivary_gland
COSM3762512	c.8685G>A	p.Q2895Q	Substitution - coding silent	Large_intestine
COSM1179669	c.943G>A	p.G315S	Substitution - Missense	Soft_tissue
COSM206276	c.1966G>A	p.V656I	Substitution - Missense	Prostate
COSM4798577	c.1332G>A	p.R444R	Substitution - coding silent	Liver
COSM461638	c.850C>T	p.R284*	Substitution - Nonsense	Cervix
COSM600214	c.6148C>T	p.P2050S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3304376	c.2769+1G>T	p.?	Unknown	Breast
COSM4162022	c.1131A>T	p.P377P	Substitution - coding silent	Thyroid
COSM4450625	c.7307delC	p.P2436fs*16	Deletion - Frameshift	Large_intestine
COSM86082	c.2418C>G	p.S806S	Substitution - coding silent	Soft_tissue
COSM5666141	c.11460+1G>A	p.?	Unknown	Soft_tissue
COSM485095	c.3309T>A	p.C1103*	Substitution - Nonsense	Kidney
COSM6005475	c.13588G>C	p.D4530H	Substitution - Missense	Breast
COSM4591023	c.871C>T	p.L291F	Substitution - Missense	Upper_aerodigestive_tract
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Central_nervous_system
COSM745853	c.3421C>T	p.P1141S	Substitution - Missense	Lung
COSM1131645	c.2710C>T	p.R904*	Substitution - Nonsense	Prostate
COSM33306	c.5716C>T	p.R1906*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM308280	c.9934C>T	p.Q3312*	Substitution - Nonsense	Cervix
COSM328978	c.8390delA	p.K2797fs*26	Deletion - Frameshift	Stomach
COSM1161671	c.6281A>T	p.Y2094F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3304560	c.1154G>A	p.C385Y	Substitution - Missense	Skin
COSM3879559	c.7747G>C	p.E2583Q	Substitution - Missense	Stomach
COSM3636459	c.12954C>T	p.V4318V	Substitution - coding silent	Stomach
COSM1184382	c.4308A>C	p.E1436D	Substitution - Missense	Large_intestine
COSM4162014	c.2534G>A	p.G845E	Substitution - Missense	Large_intestine
COSM230133	c.1173C>A	p.C391*	Substitution - Nonsense	Soft_tissue
COSM1635198	c.2185A>G	p.N729D	Substitution - Missense	Skin
COSM5009127	c.5711C>T	p.T1904I	Substitution - Missense	Large_intestine
COSM5752230	c.9713_9728del16	p.T3238fs*6	Deletion - Frameshift	Breast
COSM1622596	c.10726A>G	p.I3576V	Substitution - Missense	Liver
COSM485095	c.3309T>A	p.C1103*	Substitution - Nonsense	Central_nervous_system
COSM225885	c.1139G>T	p.R380L	Substitution - Missense	Soft_tissue
COSM5721127	c.5475C>T	p.F1825F	Substitution - coding silent	Skin
COSM5752365	c.653delA	p.D218fs*43	Deletion - Frameshift	Breast
COSM3733406	c.11879G>A	p.R3960Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5046838	c.1901T>C	p.V634A	Substitution - Missense	Oesophagus
COSM5835372	c.1825delC	p.H609fs*3	Deletion - Frameshift	Breast
COSM3636477	c.9977C>T	p.P3326L	Substitution - Missense	Skin
COSM3703177	c.7064T>G	p.L2355R	Substitution - Missense	Liver
COSM3636539	c.1144G>A	p.G382S	Substitution - Missense	Skin
COSM3304171	c.6160C>G	p.Q2054E	Substitution - Missense	Prostate
COSM3733336	c.2263C>T	p.Q755*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM1581250	c.6034C>T	p.P2012S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5626504	c.542A>T	p.Y181F	Substitution - Missense	Oesophagus
COSM140598	c.6532C>T	p.P2178S	Substitution - Missense	Skin
COSM26947	c.13334G>A	p.G4445D	Substitution - Missense	Skin
COSM254824	c.12221G>T	p.G4074V	Substitution - Missense	Urinary_tract
COSM5752667	c.2293G>T	p.E765*	Substitution - Nonsense	Breast
COSM4162024	c.946A>T	p.T316S	Substitution - Missense	Thyroid
COSM3304640	c.962G>A	p.S321N	Substitution - Missense	Stomach
COSM4162002	c.2656C>T	p.R886C	Substitution - Missense	Large_intestine
COSM126806	c.12835C>T	p.Q4279*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM3727750	c.13489A>T	p.K4497*	Substitution - Nonsense	Skin
COSM4609312	c.604C>A	p.Q202K	Substitution - Missense	Adrenal_gland
COSM1726038	c.8077G>A	p.D2693N	Substitution - Missense	Liver
COSM228110	c.1042G>A	p.D348N	Substitution - Missense	Soft_tissue
COSM745865	c.5371C>T	p.Q1791*	Substitution - Nonsense	Thyroid
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Central_nervous_system
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Central_nervous_system
COSM4384342	c.3977T>G	p.L1326*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5010049	c.7236C>T	p.P2412P	Substitution - coding silent	Large_intestine
COSM353507	c.7152G>A	p.R2384R	Substitution - coding silent	Lung
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Upper_aerodigestive_tract
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Soft_tissue
COSM1087511	c.14078G>A	p.R4693Q	Substitution - Missense	Large_intestine
COSM5009538	c.13639A>G	p.T4547A	Substitution - Missense	Large_intestine
COSM4162024	c.946A>T	p.T316S	Substitution - Missense	Upper_aerodigestive_tract
COSM357078	c.2297C>A	p.T766K	Substitution - Missense	Lung
COSM150424	c.5068A>C	p.R1690R	Substitution - coding silent	Stomach
COSM3879598	c.2597G>A	p.R866Q	Substitution - Missense	Stomach
COSM3832348	c.7143G>A	p.L2381L	Substitution - coding silent	Breast
COSM85569	c.10816_10826del11	p.R3606fs*5	Deletion - Frameshift	Pancreas
COSM1180098	c.1005T>A	p.P335P	Substitution - coding silent	Soft_tissue
COSM1635192	c.11597delA	p.K3866fs*23	Deletion - Frameshift	Liver
COSM4762633	c.12673C>T	p.R4225*	Substitution - Nonsense	Stomach
COSM5631587	c.2407G>T	p.A803S	Substitution - Missense	Oesophagus
COSM4702494	c.8577C>A	p.H2859Q	Substitution - Missense	Large_intestine
COSM6006414	c.7234C>A	p.P2412T	Substitution - Missense	Central_nervous_system
COSM3304594	c.1079C>A	p.T360N	Substitution - Missense	Breast
COSM5966020	c.4007C>T	p.S1336F	Substitution - Missense	Breast
COSM289942	c.2447_2448insA	p.Y816fs*1	Insertion - Frameshift	Central_nervous_system
COSM1184394	c.3875G>A	p.R1292Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4591023	c.871C>T	p.L291F	Substitution - Missense	Liver
COSM461638	c.850C>T	p.R284*	Substitution - Nonsense	Breast
COSM3879502	c.13858C>G	p.H4620D	Substitution - Missense	Stomach
COSM3879581	c.4776C>T	p.S1592S	Substitution - coding silent	Stomach
COSM4161998	c.2726G>A	p.R909K	Substitution - Missense	Upper_aerodigestive_tract
COSM4381931	c.943G>T	p.G315C	Substitution - Missense	Large_intestine
COSM150428	c.2958A>G	p.P986P	Substitution - coding silent	Soft_tissue
COSM3636551	c.960C>T	p.F320F	Substitution - coding silent	Skin
COSM1179669	c.943G>A	p.G315S	Substitution - Missense	Central_nervous_system
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Urinary_tract
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Upper_aerodigestive_tract
COSM1087519	c.13267G>T	p.D4423Y	Substitution - Missense	Endometrium
COSM1488405	c.2068G>T	p.E690*	Substitution - Nonsense	Breast
COSM3304460	c.2349C>A	p.S783S	Substitution - coding silent	Liver
COSM5985276	c.1963G>A	p.V655I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4590380	c.7443A>T	p.R2481S	Substitution - Missense	Upper_aerodigestive_tract
COSM5062320	c.6836delC	p.P2279fs*26	Deletion - Frameshift	Stomach
COSM150428	c.2958A>G	p.P986P	Substitution - coding silent	Soft_tissue
COSM4591181	c.13249G>A	p.A4417T	Substitution - Missense	Upper_aerodigestive_tract
COSM1087617	c.3776A>G	p.D1259G	Substitution - Missense	Endometrium
COSM1087621	c.3718G>T	p.E1240*	Substitution - Nonsense	Endometrium
COSM3745634	c.1995A>G	p.E665E	Substitution - coding silent	Liver
COSM230133	c.1173C>A	p.C391*	Substitution - Nonsense	Soft_tissue
COSM1179107	c.851G>A	p.R284Q	Substitution - Missense	Upper_aerodigestive_tract
COSM485081	c.8887C>T	p.R2963C	Substitution - Missense	Kidney
COSM100082	c.8390_8390delA	p.K2797fs*26	Deletion - Frameshift	Large_intestine
COSM1087552	c.9919G>A	p.V3307M	Substitution - Missense	Endometrium
COSM3411831	c.3026T>G	p.V1009G	Substitution - Missense	Central_nervous_system
COSM3832334	c.13030G>C	p.D4344H	Substitution - Missense	Breast
COSM5798403	c.9505C>T	p.P3169S	Substitution - Missense	Breast
COSM1673716	c.1256A>G	p.Q419R	Substitution - Missense	Stomach
COSM97020	c.2118_2120TAT>CAC	p.I707T	Substitution - Missense	Lung
COSM745869	c.5826A>G	p.T1942T	Substitution - coding silent	Lung
COSM4381931	c.943G>T	p.G315C	Substitution - Missense	Large_intestine
COSM4391356	c.754C>T	p.H252Y	Substitution - Missense	Breast
COSM4399972	c.10582A>C	p.N3528H	Substitution - Missense	Skin
COSM5694862	c.26T>A	p.V9E	Substitution - Missense	Soft_tissue
COSM1087643	c.2711G>A	p.R904Q	Substitution - Missense	Endometrium
COSM1179107	c.851G>A	p.R284Q	Substitution - Missense	Oesophagus
COSM1179107	c.851G>A	p.R284Q	Substitution - Missense	Central_nervous_system
COSM745885	c.10355C>T	p.P3452L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4941293	c.12356C>T	p.P4119L	Substitution - Missense	Liver
COSM328978	c.8390delA	p.K2797fs*26	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5752691	c.10450C>T	p.Q3484*	Substitution - Nonsense	Breast
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Central_nervous_system
COSM4388600	c.162-6C>T	p.?	Unknown	Pancreas
COSM85094	c.6601G>C	p.D2201H	Substitution - Missense	Pancreas
COSM1087562	c.8715A>G	p.V2905V	Substitution - coding silent	Endometrium
COSM1581242	c.7829G>A	p.R2610Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4162018	c.2315C>T	p.S772L	Substitution - Missense	Upper_aerodigestive_tract
COSM4162018	c.2315C>T	p.S772L	Substitution - Missense	Upper_aerodigestive_tract
COSM4482721	c.2634C>T	p.A878A	Substitution - coding silent	Skin
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Soft_tissue
COSM1137666	c.2872-1G>T	p.?	Unknown	Kidney
COSM1635198	c.2185A>G	p.N729D	Substitution - Missense	Thyroid
COSM1581230	c.12418C>T	p.Q4140*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3636509	c.5209A>G	p.K1737E	Substitution - Missense	Skin
COSM1179669	c.943G>A	p.G315S	Substitution - Missense	Central_nervous_system
COSM4591023	c.871C>T	p.L291F	Substitution - Missense	Upper_aerodigestive_tract
COSM5822758	c.1269A>G	p.K423K	Substitution - coding silent	Liver
COSM600208	c.5216C>A	p.P1739H	Substitution - Missense	Lung
COSM4161994	c.2917A>G	p.R973G	Substitution - Missense	Thyroid
COSM4702520	c.717C>T	p.I239I	Substitution - coding silent	Large_intestine
COSM5415243	c.11776C>A	p.L3926I	Substitution - Missense	Endometrium
COSM1673706	c.8957G>A	p.G2986D	Substitution - Missense	Stomach
COSM3832346	c.8653G>A	p.E2885K	Substitution - Missense	Breast
COSM1179669	c.943G>A	p.G315S	Substitution - Missense	Prostate
COSM4780265	c.11807A>T	p.H3936L	Substitution - Missense	Liver
COSM4841358	c.3874C>T	p.R1292*	Substitution - Nonsense	Cervix
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Central_nervous_system
COSM345944	c.5750G>A	p.R1917K	Substitution - Missense	Lung
COSM4591023	c.871C>T	p.L291F	Substitution - Missense	Upper_aerodigestive_tract
COSM225883	c.2968A>G	p.S990G	Substitution - Missense	Central_nervous_system
COSM254820	c.9034C>T	p.Q3012*	Substitution - Nonsense	Urinary_tract
COSM1581244	c.7162C>T	p.R2388C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5019722	c.850-7C>T	p.?	Unknown	Soft_tissue
COSM86082	c.2418C>G	p.S806S	Substitution - coding silent	Soft_tissue
COSM2153724	c.13077G>C	p.K4359N	Substitution - Missense	Central_nervous_system
COSM4162002	c.2656C>T	p.R886C	Substitution - Missense	Thyroid
COSM1721289	c.14344-3delT	p.?	Unknown	Biliary_tract
COSM5738226	c.11053C>T	p.P3685S	Substitution - Missense	Small_intestine
COSM228110	c.1042G>A	p.D348N	Substitution - Missense	Pancreas
COSM139747	c.6547C>T	p.P2183S	Substitution - Missense	Skin
COSM3304340	c.2895T>C	p.S965S	Substitution - coding silent	Pancreas
COSM340281	c.980G>T	p.C327F	Substitution - Missense	Lung
COSM1449434	c.5821A>G	p.T1941A	Substitution - Missense	Large_intestine
COSM3745634	c.1995A>G	p.E665E	Substitution - coding silent	Prostate
COSM4594560	c.2591A>G	p.E864G	Substitution - Missense	Upper_aerodigestive_tract
COSM4877695	c.2554A>G	p.T852A	Substitution - Missense	Prostate
COSM86082	c.2418C>G	p.S806S	Substitution - coding silent	Soft_tissue
COSM33306	c.5716C>T	p.R1906*	Substitution - Nonsense	Endometrium
COSM4791109	c.1309A>T	p.I437L	Substitution - Missense	Liver
COSM150424	c.5068A>C	p.R1690R	Substitution - coding silent	Soft_tissue
COSM1179669	c.943G>A	p.G315S	Substitution - Missense	Soft_tissue
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Upper_aerodigestive_tract
COSM4591023	c.871C>T	p.L291F	Substitution - Missense	Upper_aerodigestive_tract
COSM3304185	c.5514T>C	p.P1838P	Substitution - coding silent	Large_intestine
COSM745855	c.4349A>G	p.D1450G	Substitution - Missense	Lung
COSM1087509	c.14104G>A	p.A4702T	Substitution - Missense	Endometrium
COSM3304448	c.2410C>G	p.L804V	Substitution - Missense	Oesophagus
COSM4162018	c.2315C>T	p.S772L	Substitution - Missense	Upper_aerodigestive_tract
COSM4853095	c.7258C>G	p.L2420V	Substitution - Missense	Cervix
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Central_nervous_system
COSM1312881	c.2758G>T	p.V920L	Substitution - Missense	Urinary_tract
COSM745829	c.1057C>T	p.L353F	Substitution - Missense	Lung
COSM4605814	c.6987A>G	p.G2329G	Substitution - coding silent	Upper_aerodigestive_tract
COSM4702510	c.5072C>T	p.A1691V	Substitution - Missense	Large_intestine
COSM3832346	c.8653G>A	p.E2885K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1179669	c.943G>A	p.G315S	Substitution - Missense	Central_nervous_system
COSM4384316	c.9718C>T	p.Q3240*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1087661	c.942C>T	p.A314A	Substitution - coding silent	Endometrium
COSM376914	c.1004C>T	p.P335L	Substitution - Missense	Skin
COSM1184390	c.8650C>T	p.R2884*	Substitution - Nonsense	Large_intestine
COSM4162020	c.2189C>A	p.S730Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4644785	c.10278G>A	p.Q3426Q	Substitution - coding silent	Large_intestine
COSM6006413	c.10432C>G	p.Q3478E	Substitution - Missense	Central_nervous_system
COSM3374569	c.6551C>G	p.S2184C	Substitution - Missense	Thyroid
COSM461642	c.3556C>T	p.Q1186*	Substitution - Nonsense	Cervix
COSM3663039	c.8391G>A	p.K2797K	Substitution - coding silent	Liver
COSM100082	c.8390_8390delA	p.K2797fs*26	Deletion - Frameshift	Large_intestine
COSM150424	c.5068A>C	p.R1690R	Substitution - coding silent	Soft_tissue
COSM1179669	c.943G>A	p.G315S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3879510	c.13461C>T	p.C4487C	Substitution - coding silent	Stomach
COSM4591023	c.871C>T	p.L291F	Substitution - Missense	Upper_aerodigestive_tract
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Upper_aerodigestive_tract
COSM1087503	c.14365C>T	p.R4789*	Substitution - Nonsense	Endometrium
COSM4385536	c.12610G>A	p.V4204I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4381931	c.943G>T	p.G315C	Substitution - Missense	Breast
COSM4702514	c.2186A>T	p.N729I	Substitution - Missense	Large_intestine
COSM5220575	c.11604delG	p.K3870fs*19	Deletion - Frameshift	Breast
COSM4381097	c.?	p.G292E	Substitution - Missense	Breast
COSM162502	c.7442+1G>A	p.?	Unknown	Breast
COSM4603590	c.2448_2449insA	p.I817fs*11	Insertion - Frameshift	Upper_aerodigestive_tract
COSM4595028	c.2681G>A	p.R894Q	Substitution - Missense	Soft_tissue
COSM5047618	c.11539A>T	p.K3847*	Substitution - Nonsense	Oesophagus
COSM1673706	c.8957G>A	p.G2986D	Substitution - Missense	Kidney
COSM1622596	c.10726A>G	p.I3576V	Substitution - Missense	Liver
COSM100082	c.8390_8390delA	p.K2797fs*26	Deletion - Frameshift	Large_intestine
COSM3636483	c.8838C>T	p.S2946S	Substitution - coding silent	Skin
COSM3879569	c.6525T>C	p.S2175S	Substitution - coding silent	Stomach
COSM121201	c.4470G>A	p.G1490G	Substitution - coding silent	Upper_aerodigestive_tract
COSM5749648	c.11215C>G	p.Q3739E	Substitution - Missense	Genital_tract
COSM5820457	c.13699C>T	p.Q4567*	Substitution - Nonsense	Liver
COSM150428	c.2958A>G	p.P986P	Substitution - coding silent	Soft_tissue
COSM216777	c.5065G>T	p.E1689*	Substitution - Nonsense	Pancreas
COSM1488387	c.14289_14290insGG	p.K4764fs*3	Insertion - Frameshift	Breast
COSM1087584	c.6437C>A	p.S2146Y	Substitution - Missense	Endometrium
COSM3879590	c.2871+1G>A	p.?	Unknown	Stomach
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Soft_tissue
COSM485075	c.12143C>A	p.S4048*	Substitution - Nonsense	Kidney
COSM1622596	c.10726A>G	p.I3576V	Substitution - Missense	Liver
COSM228110	c.1042G>A	p.D348N	Substitution - Missense	Thyroid
COSM228110	c.1042G>A	p.D348N	Substitution - Missense	Soft_tissue
COSM745881	c.8206G>C	p.D2736H	Substitution - Missense	Lung
COSM1180098	c.1005T>A	p.P335P	Substitution - coding silent	Soft_tissue
COSM1488407	c.1251T>A	p.C417*	Substitution - Nonsense	Breast
COSM4162024	c.946A>T	p.T316S	Substitution - Missense	Upper_aerodigestive_tract
COSM3396810	c.2072C>G	p.S691C	Substitution - Missense	Breast
COSM4162016	c.2352C>A	p.S784S	Substitution - coding silent	Large_intestine
COSM5009482	c.1577G>C	p.R526P	Substitution - Missense	Soft_tissue
COSM1329954	c.13895-1G>C	p.?	Unknown	Ovary
COSM4171650	c.389+2T>C	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM162504	c.3572C>A	p.T1191K	Substitution - Missense	Breast
COSM1184384	c.3922T>C	p.S1308P	Substitution - Missense	Thymus
COSM5968223	c.14114C>A	p.P4705H	Substitution - Missense	Genital_tract
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Central_nervous_system
COSM3411839	c.1227T>C	p.C409C	Substitution - coding silent	Central_nervous_system
COSM3636553	c.948C>T	p.T316T	Substitution - coding silent	Skin
COSM4384312	c.10493C>T	p.T3498I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM240696	c.13294T>C	p.C4432R	Substitution - Missense	Prostate
COSM485095	c.3309T>A	p.C1103*	Substitution - Nonsense	Endometrium
COSM4836604	c.7384C>T	p.Q2462*	Substitution - Nonsense	Cervix
COSM228110	c.1042G>A	p.D348N	Substitution - Missense	Large_intestine
COSM75425	c.10495C>G	p.Q3499E	Substitution - Missense	Ovary
COSM3636533	c.2351C>T	p.S784F	Substitution - Missense	Skin
COSM4006667	c.3340T>C	p.C1114R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4406435	c.2533-5C>A	p.?	Unknown	Pancreas
COSM4767451	c.2769+5G>T	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5985266	c.8140G>A	p.D2714N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM212884	c.4634C>T	p.T1545I	Substitution - Missense	Breast
COSM5026862	c.3085G>A	p.D1029N	Substitution - Missense	Breast
COSM3832362	c.5311C>T	p.Q1771*	Substitution - Nonsense	Breast
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Central_nervous_system
COSM1449456	c.3155A>G	p.K1052R	Substitution - Missense	Large_intestine
COSM452706	c.6051_6052insT	p.Q2018fs*7	Insertion - Frameshift	Breast
COSM371188	c.2383G>T	p.D795Y	Substitution - Missense	Lung
COSM228110	c.1042G>A	p.D348N	Substitution - Missense	Soft_tissue
COSM3304576	c.1122G>A	p.A374A	Substitution - coding silent	Stomach
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Upper_aerodigestive_tract
COSM1180098	c.1005T>A	p.P335P	Substitution - coding silent	Soft_tissue
COSM4161998	c.2726G>A	p.R909K	Substitution - Missense	Upper_aerodigestive_tract
COSM4389081	c.7237G>A	p.A2413T	Substitution - Missense	Pancreas
COSM6008989	c.849+1G>A	p.?	Unknown	Large_intestine
COSM230133	c.1173C>A	p.C391*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM5997727	c.7282G>A	p.V2428I	Substitution - Missense	Prostate
COSM4595028	c.2681G>A	p.R894Q	Substitution - Missense	Skin
COSM4162024	c.946A>T	p.T316S	Substitution - Missense	Upper_aerodigestive_tract
COSM4162024	c.946A>T	p.T316S	Substitution - Missense	Upper_aerodigestive_tract
COSM100082	c.8390_8390delA	p.K2797fs*26	Deletion - Frameshift	Large_intestine
COSM4916255	c.952C>A	p.Q318K	Substitution - Missense	Liver
COSM228110	c.1042G>A	p.D348N	Substitution - Missense	Soft_tissue
COSM227525	c.2294A>G	p.E765G	Substitution - Missense	Upper_aerodigestive_tract
COSM1449420	c.8390_8391insA	p.E2798fs*11	Insertion - Frameshift	Large_intestine
COSM3262529	c.11557C>T	p.R3853W	Substitution - Missense	Large_intestine
COSM5558039	c.11818A>T	p.K3940*	Substitution - Nonsense	Prostate
COSM5777516	c.1797T>C	p.D599D	Substitution - coding silent	Breast
COSM4996812	c.12427C>T	p.L4143F	Substitution - Missense	Upper_aerodigestive_tract
COSM461642	c.3556C>T	p.Q1186*	Substitution - Nonsense	Large_intestine
COSM4992942	c.1470G>A	p.R490R	Substitution - coding silent	Skin
COSM1581234	c.10763C>T	p.S3588L	Substitution - Missense	Soft_tissue
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Upper_aerodigestive_tract
COSM485089	c.6760G>A	p.A2254T	Substitution - Missense	Central_nervous_system
COSM1158017	c.11878C>T	p.R3960*	Substitution - Nonsense	Pancreas
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Thyroid
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Upper_aerodigestive_tract
COSM1449430	c.6416G>A	p.R2139Q	Substitution - Missense	Large_intestine
COSM1449460	c.2182G>T	p.E728*	Substitution - Nonsense	Large_intestine
COSM4162014	c.2534G>A	p.G845E	Substitution - Missense	Skin
COSM4162018	c.2315C>T	p.S772L	Substitution - Missense	Bone
COSM4909142	c.1050G>A	p.P350P	Substitution - coding silent	Thyroid
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Large_intestine
COSM4603590	c.2448_2449insA	p.I817fs*11	Insertion - Frameshift	Upper_aerodigestive_tract
COSM5886535	c.8228C>T	p.P2743L	Substitution - Missense	Skin
COSM5005189	c.760C>T	p.R254C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1087611	c.4273G>A	p.G1425S	Substitution - Missense	Endometrium
COSM228110	c.1042G>A	p.D348N	Substitution - Missense	Soft_tissue
COSM3636501	c.6531G>A	p.Q2177Q	Substitution - coding silent	Skin
COSM4161998	c.2726G>A	p.R909K	Substitution - Missense	Upper_aerodigestive_tract
COSM4162010	c.2573G>T	p.W858L	Substitution - Missense	Large_intestine
COSM5835368	c.3926delG	p.G1309fs*22	Deletion - Frameshift	Breast
COSM86082	c.2418C>G	p.S806S	Substitution - coding silent	Skin
COSM86082	c.2418C>G	p.S806S	Substitution - coding silent	Thyroid
COSM4388033	c.2748C>T	p.I916I	Substitution - coding silent	Prostate
COSM4590380	c.7443A>T	p.R2481S	Substitution - Missense	Upper_aerodigestive_tract
COSM5880187	c.8453T>C	p.V2818A	Substitution - Missense	Skin
COSM3736680	c.14405G>A	p.G4802E	Substitution - Missense	Skin
COSM5010338	c.11702delC	p.P3901fs*33	Deletion - Frameshift	Large_intestine
COSM745841	c.2267G>C	p.G756A	Substitution - Missense	Lung
COSM3733336	c.2263C>T	p.Q755*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM293077	c.4770A>G	p.A1590A	Substitution - coding silent	Large_intestine
COSM228110	c.1042G>A	p.D348N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3304590	c.1082C>T	p.T361I	Substitution - Missense	Breast
COSM3879557	c.7788G>A	p.R2596R	Substitution - coding silent	Stomach
COSM4414371	c.4950T>A	p.T1650T	Substitution - coding silent	Kidney
COSM5976301	c.2532+1G>C	p.?	Unknown	Upper_aerodigestive_tract
COSM328978	c.8390delA	p.K2797fs*26	Deletion - Frameshift	Liver
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Upper_aerodigestive_tract
COSM1312879	c.4045C>T	p.R1349*	Substitution - Nonsense	Skin
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Soft_tissue
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Upper_aerodigestive_tract
COSM4161998	c.2726G>A	p.R909K	Substitution - Missense	Biliary_tract
COSM4162018	c.2315C>T	p.S772L	Substitution - Missense	Upper_aerodigestive_tract
COSM4702492	c.9485C>A	p.P3162H	Substitution - Missense	Large_intestine
COSM5407047	c.9084C>T	p.P3028P	Substitution - coding silent	Skin
COSM3262539	c.11374C>T	p.Q3792*	Substitution - Nonsense	Breast
COSM150428	c.2958A>G	p.P986P	Substitution - coding silent	Soft_tissue
COSM1131647	c.2755G>C	p.V919L	Substitution - Missense	Prostate
COSM5420510	c.2501A>T	p.K834I	Substitution - Missense	Pancreas
COSM5752471	c.1193delG	p.G398fs*7	Deletion - Frameshift	Breast
COSM3304590	c.1082C>T	p.T361I	Substitution - Missense	Breast
COSM4765977	c.8391_8392insA	p.E2798fs*11	Insertion - Frameshift	Large_intestine
COSM5020056	c.127G>T	p.D43Y	Substitution - Missense	Soft_tissue
COSM5987754	c.591-1G>T	p.?	Unknown	Salivary_gland
COSM1087666	c.592G>T	p.E198*	Substitution - Nonsense	Large_intestine
COSM4587277	c.1017G>C	p.K339N	Substitution - Missense	Upper_aerodigestive_tract
COSM4162024	c.946A>T	p.T316S	Substitution - Missense	Upper_aerodigestive_tract
COSM5031189	c.13631G>A	p.R4544Q	Substitution - Missense	Pancreas
COSM1730483	c.8494A>T	p.K2832*	Substitution - Nonsense	Liver
COSM1179669	c.943G>A	p.G315S	Substitution - Missense	Skin
COSM745831	c.1083T>A	p.T361T	Substitution - coding silent	Lung
COSM3832360	c.5327T>G	p.V1776G	Substitution - Missense	Breast
COSM85095	c.6070G>C	p.D2024H	Substitution - Missense	Pancreas
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Stomach
COSM225883	c.2968A>G	p.S990G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM254816	c.5287C>T	p.Q1763*	Substitution - Nonsense	Urinary_tract
COSM1087603	c.5195A>G	p.D1732G	Substitution - Missense	Endometrium
COSM86082	c.2418C>G	p.S806S	Substitution - coding silent	Soft_tissue
COSM86082	c.2418C>G	p.S806S	Substitution - coding silent	Soft_tissue
COSM4610746	c.2680C>T	p.R894W	Substitution - Missense	Skin
COSM1161665	c.6434A>G	p.Y2145C	Substitution - Missense	Prostate
COSM485095	c.3309T>A	p.C1103*	Substitution - Nonsense	Endometrium
COSM3663041	c.2598G>T	p.R866R	Substitution - coding silent	Liver
COSM4591023	c.871C>T	p.L291F	Substitution - Missense	Skin
COSM4006667	c.3340T>C	p.C1114R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4765977	c.8391_8392insA	p.E2798fs*11	Insertion - Frameshift	Stomach
COSM4381097	c.?	p.G292E	Substitution - Missense	Breast
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Soft_tissue
COSM5752691	c.10450C>T	p.Q3484*	Substitution - Nonsense	Breast
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Upper_aerodigestive_tract
COSM71656	c.6301C>G	p.P2101A	Substitution - Missense	Ovary
COSM228110	c.1042G>A	p.D348N	Substitution - Missense	Soft_tissue
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Upper_aerodigestive_tract
COSM3923214	c.919C>T	p.H307Y	Substitution - Missense	Skin
COSM4909142	c.1050G>A	p.P350P	Substitution - coding silent	Thyroid
COSM3636467	c.12104C>T	p.P4035L	Substitution - Missense	Skin
COSM1179107	c.851G>A	p.R284Q	Substitution - Missense	Prostate
COSM4605247	c.3847G>T	p.G1283C	Substitution - Missense	Upper_aerodigestive_tract
COSM3636485	c.8579C>A	p.S2860*	Substitution - Nonsense	Skin
COSM485095	c.3309T>A	p.C1103*	Substitution - Nonsense	Soft_tissue
COSM4162016	c.2352C>A	p.S784S	Substitution - coding silent	Upper_aerodigestive_tract
COSM452728	c.2379G>A	p.S793S	Substitution - coding silent	Central_nervous_system
COSM745833	c.1086T>A	p.C362*	Substitution - Nonsense	Lung
COSM1581238	c.8605T>A	p.S2869T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1087533	c.11979T>C	p.G3993G	Substitution - coding silent	Endometrium
COSM5945146	c.3940C>T	p.Q1314*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1087548	c.10368C>T	p.S3456S	Substitution - coding silent	Endometrium
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Skin
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Central_nervous_system
COSM1158017	c.11878C>T	p.R3960*	Substitution - Nonsense	Pancreas
COSM5752667	c.2293G>T	p.E765*	Substitution - Nonsense	Breast
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Upper_aerodigestive_tract
COSM5629620	c.8998G>A	p.V3000I	Substitution - Missense	Oesophagus
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Soft_tissue
COSM1087613	c.3899G>A	p.R1300K	Substitution - Missense	Endometrium
COSM4162024	c.946A>T	p.T316S	Substitution - Missense	Upper_aerodigestive_tract
COSM4162024	c.946A>T	p.T316S	Substitution - Missense	Thyroid
COSM4992920	c.10806G>T	p.G3602G	Substitution - coding silent	Skin
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Central_nervous_system
COSM228110	c.1042G>A	p.D348N	Substitution - Missense	Central_nervous_system
COSM452732	c.2045C>G	p.S682*	Substitution - Nonsense	Breast
COSM4162014	c.2534G>A	p.G845E	Substitution - Missense	Thyroid
COSM4407937	c.5668C>T	p.R1890*	Substitution - Nonsense	Oesophagus
COSM4767634	c.5794G>A	p.V1932I	Substitution - Missense	Biliary_tract
COSM245709	c.13645C>T	p.R4549C	Substitution - Missense	Pancreas
COSM3879525	c.11008A>G	p.N3670D	Substitution - Missense	Stomach
COSM5407045	c.9797G>C	p.R3266P	Substitution - Missense	Skin
COSM4819516	c.3216G>C	p.Q1072H	Substitution - Missense	Cervix
COSM100082	c.8390_8390delA	p.K2797fs*26	Deletion - Frameshift	Large_intestine
COSM5553480	c.13807G>T	p.E4603*	Substitution - Nonsense	Prostate
COSM1087629	c.3313C>T	p.Q1105*	Substitution - Nonsense	Endometrium
COSM162506	c.8900A>C	p.N2967T	Substitution - Missense	Breast
COSM249313	c.13889C>A	p.P4630H	Substitution - Missense	Kidney
COSM1087635	c.3234C>T	p.C1078C	Substitution - coding silent	Endometrium
COSM5455562	c.13328A>G	p.Q4443R	Substitution - Missense	Large_intestine
COSM5650995	c.868C>A	p.H290N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Central_nervous_system
COSM226619	c.857C>A	p.A286E	Substitution - Missense	Skin
COSM254824	c.12221G>T	p.G4074V	Substitution - Missense	Urinary_tract
COSM1087517	c.13750C>T	p.R4584W	Substitution - Missense	Endometrium
COSM1184390	c.8650C>T	p.R2884*	Substitution - Nonsense	Breast
COSM1180098	c.1005T>A	p.P335P	Substitution - coding silent	Prostate
COSM1685633	c.1795_1796delGA	p.D599fs*1	Deletion - Frameshift	Skin
COSM4381931	c.943G>T	p.G315C	Substitution - Missense	Large_intestine
COSM86082	c.2418C>G	p.S806S	Substitution - coding silent	Soft_tissue
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Central_nervous_system
COSM4162024	c.946A>T	p.T316S	Substitution - Missense	Upper_aerodigestive_tract
COSM5761148	c.2198delC	p.S733fs*4	Deletion - Frameshift	Pancreas
COSM485095	c.3309T>A	p.C1103*	Substitution - Nonsense	Central_nervous_system
COSM485095	c.3309T>A	p.C1103*	Substitution - Nonsense	Kidney
COSM4405646	c.1130C>T	p.P377L	Substitution - Missense	Skin
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Upper_aerodigestive_tract
COSM225885	c.1139G>T	p.R380L	Substitution - Missense	Soft_tissue
COSM5997541	c.3540T>C	p.T1180T	Substitution - coding silent	Prostate
COSM1179107	c.851G>A	p.R284Q	Substitution - Missense	Central_nervous_system
COSM228110	c.1042G>A	p.D348N	Substitution - Missense	Central_nervous_system
COSM4429309	c.8098G>A	p.D2700N	Substitution - Missense	Oesophagus
COSM362599	c.1184+1G>T	p.?	Unknown	Lung
COSM485091	c.6488C>A	p.P2163H	Substitution - Missense	Kidney
COSM3636559	c.850-1G>A	p.?	Unknown	Skin
COSM5010311	c.7443-1_7443insA	p.F2482fs*7	Unknown	Large_intestine
COSM1179107	c.851G>A	p.R284Q	Substitution - Missense	Soft_tissue
COSM3832376	c.1076G>C	p.C359S	Substitution - Missense	Breast
COSM3745632	c.7009T>C	p.S2337P	Substitution - Missense	Liver
COSM1131647	c.2755G>C	p.V919L	Substitution - Missense	Soft_tissue
COSM5634054	c.11521G>C	p.D3841H	Substitution - Missense	Oesophagus
COSM4767785	c.14631G>A	p.Q4877Q	Substitution - coding silent	Biliary_tract
COSM4824099	c.6658C>T	p.Q2220*	Substitution - Nonsense	Breast
COSM225883	c.2968A>G	p.S990G	Substitution - Missense	Soft_tissue
COSM1449460	c.2182G>T	p.E728*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM3636531	c.2368G>A	p.D790N	Substitution - Missense	Skin
COSM88486	c.4432C>T	p.Q1478*	Substitution - Nonsense	Ovary
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Upper_aerodigestive_tract
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Central_nervous_system
COSM150428	c.2958A>G	p.P986P	Substitution - coding silent	Soft_tissue
COSM255059	c.4019delG	p.S1340fs*5	Deletion - Frameshift	Urinary_tract
COSM4384332	c.5444G>T	p.G1815V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM387864	c.6404C>T	p.P2135L	Substitution - Missense	Lung
COSM5025117	c.1736-3C>A	p.?	Unknown	Breast
COSM5750218	c.7703G>T	p.G2568V	Substitution - Missense	Stomach
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Upper_aerodigestive_tract
COSM3662778	c.2491A>G	p.T831A	Substitution - Missense	Liver
COSM3778259	c.10359C>T	p.F3453F	Substitution - coding silent	Urinary_tract
COSM1635198	c.2185A>G	p.N729D	Substitution - Missense	Upper_aerodigestive_tract
COSM4942341	c.4867G>T	p.E1623*	Substitution - Nonsense	Liver
COSM3879579	c.4787A>G	p.D1596G	Substitution - Missense	Stomach
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Central_nervous_system
COSM225885	c.1139G>T	p.R380L	Substitution - Missense	Thyroid
COSM745863	c.5254A>T	p.K1752*	Substitution - Nonsense	Lung
COSM5407043	c.10407T>A	p.L3469L	Substitution - coding silent	Skin
COSM5788542	c.2465A>G	p.K822R	Substitution - Missense	Breast
COSM1087574	c.7365T>G	p.Y2455*	Substitution - Nonsense	Endometrium
COSM150428	c.2958A>G	p.P986P	Substitution - coding silent	Soft_tissue
COSM150428	c.2958A>G	p.P986P	Substitution - coding silent	Central_nervous_system
COSM1159292	c.12469T>C	p.L4157L	Substitution - coding silent	Pancreas
COSM5453041	c.13199G>A	p.R4400Q	Substitution - Missense	Large_intestine
COSM5653280	c.6284G>T	p.S2095I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1173301	c.14412delC	p.I4805fs*5	Deletion - Frameshift	Oesophagus
COSM1312879	c.4045C>T	p.R1349*	Substitution - Nonsense	Urinary_tract
COSM1449464	c.1533G>A	p.E511E	Substitution - coding silent	Large_intestine
COSM5982244	c.3977T>A	p.L1326*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM1496557	c.11262C>T	p.S3754S	Substitution - coding silent	Kidney
COSM4808475	c.14644-6G>A	p.?	Unknown	Pancreas
COSM5024984	c.1323_1324delTG	p.C441fs*5	Deletion - Frameshift	Breast
COSM230133	c.1173C>A	p.C391*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM4595028	c.2681G>A	p.R894Q	Substitution - Missense	Soft_tissue
COSM4162024	c.946A>T	p.T316S	Substitution - Missense	Upper_aerodigestive_tract
COSM4702500	c.7392A>T	p.G2464G	Substitution - coding silent	Large_intestine
COSM4791109	c.1309A>T	p.I437L	Substitution - Missense	Liver
COSM3636545	c.996C>T	p.D332D	Substitution - coding silent	Skin
COSM5710462	c.7159T>G	p.L2387V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3304114	c.7828C>T	p.R2610*	Substitution - Nonsense	Stomach
COSM1743793	c.10882G>A	p.D3628N	Substitution - Missense	Biliary_tract
COSM4161998	c.2726G>A	p.R909K	Substitution - Missense	Skin
COSM4450625	c.7307delC	p.P2436fs*16	Deletion - Frameshift	Skin
COSM5802343	c.1360_1361insT	p.I455fs*3	Insertion - Frameshift	Breast
COSM5415244	c.13698G>C	p.M4566I	Substitution - Missense	Endometrium
COSM331547	c.1101T>C	p.H367H	Substitution - coding silent	Lung
COSM1719514	c.5725C>G	p.P1909A	Substitution - Missense	Skin
COSM5025007	c.2890G>C	p.G964R	Substitution - Missense	Breast
COSM363443	c.595C>T	p.R199*	Substitution - Nonsense	Large_intestine
COSM673961	c.14543A>G	p.N4848S	Substitution - Missense	Endometrium
COSM1087651	c.1833G>T	p.V611V	Substitution - coding silent	Endometrium
COSM4386116	c.929G>T	p.C310F	Substitution - Missense	Large_intestine
COSM5446319	c.2446_2447insA	p.Y816fs*1	Insertion - Frameshift	Thyroid
COSM5752239	c.7478delC	p.P2493fs*22	Deletion - Frameshift	Breast
COSM308280	c.9934C>T	p.Q3312*	Substitution - Nonsense	Breast
COSM1087588	c.6082C>T	p.R2028*	Substitution - Nonsense	Breast
COSM3832336	c.9907A>C	p.T3303P	Substitution - Missense	Breast
COSM4591023	c.871C>T	p.L291F	Substitution - Missense	Upper_aerodigestive_tract
COSM1087659	c.947C>G	p.T316S	Substitution - Missense	Endometrium
COSM3396684	c.12594T>G	p.C4198W	Substitution - Missense	Prostate
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Upper_aerodigestive_tract
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Skin
COSM1257797	c.1072T>G	p.F358V	Substitution - Missense	Oesophagus
COSM4490387	c.3631C>T	p.Q1211*	Substitution - Nonsense	Skin
COSM4909142	c.1050G>A	p.P350P	Substitution - coding silent	Large_intestine
COSM4922848	c.14735G>T	p.*4912L	Nonstop extension	Liver
COSM1179107	c.851G>A	p.R284Q	Substitution - Missense	Soft_tissue
COSM1184384	c.3922T>C	p.S1308P	Substitution - Missense	Large_intestine
COSM3745630	c.7455A>C	p.P2485P	Substitution - coding silent	Liver
COSM4384306	c.12220G>A	p.G4074S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4702512	c.2907A>C	p.G969G	Substitution - coding silent	Large_intestine
COSM5816412	c.10491C>T	p.S3497S	Substitution - coding silent	Liver
COSM289942	c.2447_2448insA	p.Y816fs*1	Insertion - Frameshift	Oesophagus
COSM225885	c.1139G>T	p.R380L	Substitution - Missense	Skin
COSM1673693	c.14665G>A	p.D4889N	Substitution - Missense	Kidney
COSM216053	c.2961C>G	p.Y987*	Substitution - Nonsense	Central_nervous_system
COSM1726036	c.11219A>C	p.N3740T	Substitution - Missense	Liver
COSM3733428	c.9535C>T	p.Q3179*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5441006	c.8600delA	p.K2867fs*39	Deletion - Frameshift	Oesophagus
COSM5482469	c.1007A>G	p.E336G	Substitution - Missense	Large_intestine
COSM1131647	c.2755G>C	p.V919L	Substitution - Missense	Skin
COSM4591023	c.871C>T	p.L291F	Substitution - Missense	Upper_aerodigestive_tract
COSM397340	c.1240C>T	p.H414Y	Substitution - Missense	Breast
COSM5484905	c.2444C>T	p.T815I	Substitution - Missense	Large_intestine
COSM1329946	c.10462A>T	p.I3488L	Substitution - Missense	Ovary
COSM3636525	c.2872-1G>A	p.?	Unknown	Skin
COSM3879606	c.986A>G	p.E329G	Substitution - Missense	Stomach
COSM1635198	c.2185A>G	p.N729D	Substitution - Missense	Thyroid
COSM4162024	c.946A>T	p.T316S	Substitution - Missense	Thyroid
COSM1699625	c.8596G>A	p.E2866K	Substitution - Missense	Skin
COSM1159415	c.8246T>G	p.L2749*	Substitution - Nonsense	Pancreas
COSM3636531	c.2368G>A	p.D790N	Substitution - Missense	Skin
COSM5019722	c.850-7C>T	p.?	Unknown	Soft_tissue
COSM5656366	c.6823_6830delACACCTAG	p.T2275fs*11	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM86082	c.2418C>G	p.S806S	Substitution - coding silent	Soft_tissue
COSM86082	c.2418C>G	p.S806S	Substitution - coding silent	Lung
COSM5426313	c.2613C>T	p.P871P	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM1488395	c.4600C>T	p.Q1534*	Substitution - Nonsense	Breast
COSM1449484	c.568C>T	p.R190*	Substitution - Nonsense	Large_intestine
COSM3304723	c.431C>T	p.S144F	Substitution - Missense	Skin
COSM5912636	c.9254C>A	p.P3085H	Substitution - Missense	Skin
COSM485073	c.12656T>C	p.L4219P	Substitution - Missense	Kidney
COSM4702522	c.511_513delAAG	p.K171delK	Deletion - In frame	Large_intestine
COSM5985268	c.8137G>A	p.D2713N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM237741	c.9517+7A>G	p.?	Unknown	Prostate
COSM1180098	c.1005T>A	p.P335P	Substitution - coding silent	Soft_tissue
COSM4162014	c.2534G>A	p.G845E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM86082	c.2418C>G	p.S806S	Substitution - coding silent	Soft_tissue
COSM4603590	c.2448_2449insA	p.I817fs*11	Insertion - Frameshift	Upper_aerodigestive_tract
COSM3737952	c.12343G>A	p.V4115I	Substitution - Missense	Soft_tissue
COSM3832370	c.3652C>T	p.Q1218*	Substitution - Nonsense	Breast
COSM1179669	c.943G>A	p.G315S	Substitution - Missense	Soft_tissue
COSM1087586	c.6376A>T	p.T2126S	Substitution - Missense	Endometrium
COSM228110	c.1042G>A	p.D348N	Substitution - Missense	Oesophagus
COSM5047193	c.3745G>C	p.E1249Q	Substitution - Missense	Oesophagus
COSM87212	c.5587C>G	p.P1863A	Substitution - Missense	Pancreas
COSM5752237	c.8797_8812del16	p.R2933fs*21	Deletion - Frameshift	Breast
COSM5010047	c.9532A>G	p.K3178E	Substitution - Missense	Large_intestine
COSM4603590	c.2448_2449insA	p.I817fs*11	Insertion - Frameshift	Upper_aerodigestive_tract
COSM745845	c.2675G>T	p.G892V	Substitution - Missense	Lung
COSM3262380	c.14615C>T	p.S4872F	Substitution - Missense	Skin
COSM4461002	c.11897C>T	p.P3966L	Substitution - Missense	Skin
COSM5777508	c.1796A>T	p.D599V	Substitution - Missense	Breast
COSM1179669	c.943G>A	p.G315S	Substitution - Missense	Soft_tissue
COSM5727820	c.10170C>T	p.P3390P	Substitution - coding silent	Skin
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Large_intestine
COSM452682	c.11633_11634insAGA	p.M3878>IE	Complex - insertion inframe	Breast
COSM3879573	c.6196C>T	p.R2066*	Substitution - Nonsense	Stomach
COSM4500526	c.5681C>T	p.P1894L	Substitution - Missense	Skin
COSM1635198	c.2185A>G	p.N729D	Substitution - Missense	Upper_aerodigestive_tract
COSM4603590	c.2448_2449insA	p.I817fs*11	Insertion - Frameshift	Upper_aerodigestive_tract
COSM3304644	c.947C>A	p.T316N	Substitution - Missense	Breast
COSM6008975	c.1013-1G>A	p.?	Unknown	Large_intestine
COSM225885	c.1139G>T	p.R380L	Substitution - Missense	Skin
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Central_nervous_system
COSM227525	c.2294A>G	p.E765G	Substitution - Missense	Upper_aerodigestive_tract
COSM1184370	c.12774G>T	p.K4258N	Substitution - Missense	Large_intestine
COSM4162018	c.2315C>T	p.S772L	Substitution - Missense	Thyroid
COSM343363	c.1058T>A	p.L353H	Substitution - Missense	Lung
COSM276078	c.12921C>T	p.I4307I	Substitution - coding silent	Large_intestine
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Soft_tissue
COSM4702498	c.7864C>T	p.H2622Y	Substitution - Missense	Large_intestine
COSM228110	c.1042G>A	p.D348N	Substitution - Missense	Soft_tissue
COSM5503336	c.6719G>T	p.R2240I	Substitution - Missense	Biliary_tract
COSM206252	c.11093C>T	p.T3698M	Substitution - Missense	Upper_aerodigestive_tract
COSM4381931	c.943G>T	p.G315C	Substitution - Missense	Soft_tissue
COSM4767451	c.2769+5G>T	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5009119	c.8928C>T	p.V2976V	Substitution - coding silent	Large_intestine
COSM1635198	c.2185A>G	p.N729D	Substitution - Missense	Upper_aerodigestive_tract
COSM225257	c.2915G>A	p.G972E	Substitution - Missense	Stomach
COSM745847	c.2736G>A	p.L912L	Substitution - coding silent	Lung
COSM100082	c.8390_8390delA	p.K2797fs*26	Deletion - Frameshift	Large_intestine
COSM1163621	c.12526G>A	p.G4176S	Substitution - Missense	Pancreas
COSM87961	c.7975G>T	p.E2659*	Substitution - Nonsense	Central_nervous_system
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Upper_aerodigestive_tract
COSM225883	c.2968A>G	p.S990G	Substitution - Missense	Central_nervous_system
COSM1622602	c.1622-6G>C	p.?	Unknown	Liver
COSM3411841	c.1183A>G	p.K395E	Substitution - Missense	Central_nervous_system
COSM86082	c.2418C>G	p.S806S	Substitution - coding silent	Soft_tissue
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Soft_tissue
COSM1699619	c.11809G>T	p.E3937*	Substitution - Nonsense	Skin
COSM5824063	c.577A>G	p.R193G	Substitution - Missense	Liver
COSM1635198	c.2185A>G	p.N729D	Substitution - Missense	Upper_aerodigestive_tract
COSM1312873	c.5272C>T	p.R1758C	Substitution - Missense	Thyroid
COSM4767575	c.10968C>T	p.A3656A	Substitution - coding silent	Biliary_tract
COSM1131645	c.2710C>T	p.R904*	Substitution - Nonsense	Bone
COSM4162024	c.946A>T	p.T316S	Substitution - Missense	Upper_aerodigestive_tract
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Soft_tissue
COSM3636453	c.13401G>A	p.K4467K	Substitution - coding silent	Skin
COSM5021554	c.1185-8T>C	p.?	Unknown	Bone
COSM5009125	c.6774A>G	p.G2258G	Substitution - coding silent	Large_intestine
COSM86082	c.2418C>G	p.S806S	Substitution - coding silent	Soft_tissue
COSM1635198	c.2185A>G	p.N729D	Substitution - Missense	Lung
COSM4162008	c.2578C>T	p.P860S	Substitution - Missense	Thyroid
COSM150428	c.2958A>G	p.P986P	Substitution - coding silent	Soft_tissue
COSM3832350	c.5809C>T	p.Q1937*	Substitution - Nonsense	Breast
COSM150424	c.5068A>C	p.R1690R	Substitution - coding silent	Soft_tissue
COSM150424	c.5068A>C	p.R1690R	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM4361006	c.6160C>T	p.Q2054*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Soft_tissue
COSM228110	c.1042G>A	p.D348N	Substitution - Missense	Large_intestine
COSM162518	c.5494A>T	p.K1832*	Substitution - Nonsense	Breast
COSM3262493	c.12194C>T	p.A4065V	Substitution - Missense	Bone
COSM3304725	c.427delA	p.S143fs*3	Deletion - Frameshift	Prostate
COSM4606015	c.8566G>T	p.A2856S	Substitution - Missense	Upper_aerodigestive_tract
COSM1449404	c.10384T>G	p.F3462V	Substitution - Missense	Large_intestine
COSM3923198	c.6916C>T	p.P2306S	Substitution - Missense	Skin
COSM4567645	c.8036_8037CC>TT	p.T2679I	Substitution - Missense	Skin
COSM5457314	c.14106C>T	p.A4702A	Substitution - coding silent	Large_intestine
COSM230133	c.1173C>A	p.C391*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM75427	c.1097A>C	p.Y366S	Substitution - Missense	Ovary
COSM4883278	c.11388C>A	p.G3796G	Substitution - coding silent	Upper_aerodigestive_tract
COSM1087674	c.167G>A	p.R56Q	Substitution - Missense	Large_intestine
COSM328978	c.8390delA	p.K2797fs*26	Deletion - Frameshift	Breast
COSM5019620	c.1179C>T	p.N393N	Substitution - coding silent	Soft_tissue
COSM5009482	c.1577G>C	p.R526P	Substitution - Missense	Large_intestine
COSM461648	c.11069C>G	p.S3690*	Substitution - Nonsense	Cervix
COSM228110	c.1042G>A	p.D348N	Substitution - Missense	Thyroid
COSM396785	c.2674G>A	p.G892R	Substitution - Missense	Central_nervous_system
COSM3879563	c.7489C>T	p.R2497C	Substitution - Missense	Stomach
COSM5623547	c.13432C>A	p.R4478R	Substitution - coding silent	Oesophagus
COSM121200	c.7236C>A	p.P2412P	Substitution - coding silent	Upper_aerodigestive_tract
COSM249498	c.460A>T	p.R154*	Substitution - Nonsense	Kidney
COSM4162024	c.946A>T	p.T316S	Substitution - Missense	Upper_aerodigestive_tract
COSM305642	c.4114C>A	p.L1372I	Substitution - Missense	Soft_tissue
COSM1488393	c.5377C>T	p.L1793F	Substitution - Missense	Breast
COSM4909142	c.1050G>A	p.P350P	Substitution - coding silent	Thyroid
COSM4837097	c.13861G>T	p.E4621*	Substitution - Nonsense	Cervix
COSM230133	c.1173C>A	p.C391*	Substitution - Nonsense	Soft_tissue
COSM1635198	c.2185A>G	p.N729D	Substitution - Missense	Upper_aerodigestive_tract
COSM4526222	c.13815G>A	p.K4605K	Substitution - coding silent	Skin
COSM1087627	c.3484A>C	p.K1162Q	Substitution - Missense	Endometrium
COSM452704	c.6439C>T	p.Q2147*	Substitution - Nonsense	Breast
COSM228110	c.1042G>A	p.D348N	Substitution - Missense	Soft_tissue
COSM1241437	c.11570C>T	p.T3857M	Substitution - Missense	Oesophagus
COSM3879545	c.9465A>G	p.I3155M	Substitution - Missense	Stomach
COSM5725313	c.6649C>T	p.P2217S	Substitution - Missense	Skin
COSM5752519	c.1381C>T	p.Q461*	Substitution - Nonsense	Breast
COSM4162008	c.2578C>T	p.P860S	Substitution - Missense	Thyroid
COSM1179107	c.851G>A	p.R284Q	Substitution - Missense	Central_nervous_system
COSM1179107	c.851G>A	p.R284Q	Substitution - Missense	Soft_tissue
COSM4155663	c.7270C>T	p.Q2424*	Substitution - Nonsense	Kidney
COSM1659062	c.7207C>T	p.R2403*	Substitution - Nonsense	Salivary_gland
COSM328978	c.8390delA	p.K2797fs*26	Deletion - Frameshift	Stomach
COSM1087623	c.3592A>C	p.K1198Q	Substitution - Missense	Endometrium
COSM5475026	c.6775C>T	p.P2259S	Substitution - Missense	Large_intestine
COSM4591023	c.871C>T	p.L291F	Substitution - Missense	Upper_aerodigestive_tract
COSM228110	c.1042G>A	p.D348N	Substitution - Missense	Soft_tissue
COSM1087659	c.947C>G	p.T316S	Substitution - Missense	Prostate
COSM81423	c.12048C>T	p.S4016S	Substitution - coding silent	Ovary
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Soft_tissue
COSM373716	c.7703G>A	p.G2568E	Substitution - Missense	Lung
COSM1087531	c.12150A>G	p.S4050S	Substitution - coding silent	Endometrium
COSM4162020	c.2189C>A	p.S730Y	Substitution - Missense	Upper_aerodigestive_tract
COSM4407937	c.5668C>T	p.R1890*	Substitution - Nonsense	Pancreas
COSM1179107	c.851G>A	p.R284Q	Substitution - Missense	Large_intestine
COSM3879521	c.11613C>T	p.D3871D	Substitution - coding silent	Stomach
COSM3731967	c.3654G>T	p.Q1218H	Substitution - Missense	Stomach
COSM5767523	c.3364G>C	p.E1122Q	Substitution - Missense	Breast
COSM4591023	c.871C>T	p.L291F	Substitution - Missense	Oesophagus
COSM228110	c.1042G>A	p.D348N	Substitution - Missense	Upper_aerodigestive_tract
COSM421532	c.10600C>T	p.Q3534*	Substitution - Nonsense	Urinary_tract
COSM4909142	c.1050G>A	p.P350P	Substitution - coding silent	Oesophagus
COSM1312873	c.5272C>T	p.R1758C	Substitution - Missense	Large_intestine
COSM150428	c.2958A>G	p.P986P	Substitution - coding silent	Thyroid
COSM1312885	c.2405C>T	p.S802L	Substitution - Missense	Urinary_tract
COSM162512	c.7699G>T	p.D2567Y	Substitution - Missense	Breast
COSM5417208	c.13509C>G	p.C4503W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM308288	c.250G>T	p.E84*	Substitution - Nonsense	Kidney
COSM5008028	c.13540C>T	p.Q4514*	Substitution - Nonsense	Large_intestine
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Upper_aerodigestive_tract
COSM5576157	c.5046G>A	p.W1682*	Substitution - Nonsense	Stomach
COSM86084	c.?	p.S3449F	Substitution - Missense	Large_intestine
COSM387862	c.7518G>C	p.Q2506H	Substitution - Missense	Lung
COSM1673699	c.11708C>T	p.S3903F	Substitution - Missense	Large_intestine
COSM4162002	c.2656C>T	p.R886C	Substitution - Missense	Oesophagus
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Soft_tissue
COSM5618626	c.2689C>T	p.R897*	Substitution - Nonsense	Breast
COSM4788302	c.11237G>T	p.G3746V	Substitution - Missense	Liver
COSM4591023	c.871C>T	p.L291F	Substitution - Missense	Upper_aerodigestive_tract
COSM1488403	c.2719_2720insCC	p.R907fs*7	Insertion - Frameshift	Breast
COSM421534	c.11620G>T	p.E3874*	Substitution - Nonsense	Urinary_tract
COSM1087580	c.7137G>T	p.E2379D	Substitution - Missense	Endometrium
COSM1662793	c.926C>G	p.P309R	Substitution - Missense	Kidney
COSM4767451	c.2769+5G>T	p.?	Unknown	Biliary_tract
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM363000	c.11980G>T	p.D3994Y	Substitution - Missense	Lung
COSM5651739	c.6833C>T	p.P2278L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5915690	c.11669A>C	p.Q3890P	Substitution - Missense	Skin
COSM162510	c.3199C>G	p.L1067V	Substitution - Missense	Breast
COSM1549136	c.1114G>T	p.D372Y	Substitution - Missense	Large_intestine
COSM4771494	c.12569G>C	p.S4190T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM126806	c.12835C>T	p.Q4279*	Substitution - Nonsense	Breast
COSM1087588	c.6082C>T	p.R2028*	Substitution - Nonsense	Endometrium
COSM3374573	c.5864C>T	p.S1955F	Substitution - Missense	Thyroid
COSM4162016	c.2352C>A	p.S784S	Substitution - coding silent	Large_intestine
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Soft_tissue
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Soft_tissue
COSM745865	c.5371C>T	p.Q1791*	Substitution - Nonsense	Lung
COSM1673716	c.1256A>G	p.Q419R	Substitution - Missense	Large_intestine
COSM1087556	c.9441G>T	p.Q3147H	Substitution - Missense	Endometrium
COSM1239441	c.5883C>T	p.D1961D	Substitution - coding silent	Oesophagus
COSM1257795	c.7561G>A	p.D2521N	Substitution - Missense	Stomach
COSM3262431	c.13563C>G	p.V4521V	Substitution - coding silent	Large_intestine
COSM4381931	c.943G>T	p.G315C	Substitution - Missense	Central_nervous_system
COSM4604808	c.2318C>T	p.S773L	Substitution - Missense	Upper_aerodigestive_tract
COSM4594560	c.2591A>G	p.E864G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Soft_tissue
COSM5752196	c.761delG	p.R254fs*7	Deletion - Frameshift	Breast
COSM5887986	c.3434-8C>T	p.?	Unknown	Upper_aerodigestive_tract
COSM3394632	c.1076G>A	p.C359Y	Substitution - Missense	Pancreas
COSM4702504	c.5388G>T	p.Q1796H	Substitution - Missense	Large_intestine
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Central_nervous_system
COSM140600	c.5960C>T	p.S1987F	Substitution - Missense	Skin
COSM4162014	c.2534G>A	p.G845E	Substitution - Missense	Upper_aerodigestive_tract
COSM5945908	c.13595T>C	p.V4532A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM150428	c.2958A>G	p.P986P	Substitution - coding silent	Soft_tissue
COSM1179669	c.943G>A	p.G315S	Substitution - Missense	Biliary_tract
COSM4384314	c.10208G>A	p.R3403H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4591023	c.871C>T	p.L291F	Substitution - Missense	Upper_aerodigestive_tract
COSM4591023	c.871C>T	p.L291F	Substitution - Missense	Upper_aerodigestive_tract
COSM3262465	c.12693A>G	p.V4231V	Substitution - coding silent	Large_intestine
COSM225883	c.2968A>G	p.S990G	Substitution - Missense	Pancreas
COSM86082	c.2418C>G	p.S806S	Substitution - coding silent	Soft_tissue
COSM1635198	c.2185A>G	p.N729D	Substitution - Missense	Upper_aerodigestive_tract
COSM223221	c.566C>T	p.P189L	Substitution - Missense	Skin
COSM216777	c.5065G>T	p.E1689*	Substitution - Nonsense	Pancreas
COSM5997731	c.1721G>A	p.G574E	Substitution - Missense	Prostate
COSM1087655	c.1292A>G	p.K431R	Substitution - Missense	Endometrium
COSM3304340	c.2895T>C	p.S965S	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM1184388	c.12740C>A	p.S4247*	Substitution - Nonsense	Large_intestine
COSM1329950	c.12619G>C	p.G4207R	Substitution - Missense	Ovary
COSM3879567	c.7106A>G	p.N2369S	Substitution - Missense	Stomach
COSM4846491	c.9897G>A	p.M3299I	Substitution - Missense	Cervix
COSM5615814	c.379delG	p.A127fs*19	Deletion - Frameshift	Lung
COSM5677474	c.4034A>G	p.K1345R	Substitution - Missense	Soft_tissue
COSM1179107	c.851G>A	p.R284Q	Substitution - Missense	Soft_tissue
COSM3304135	c.7414A>G	p.S2472G	Substitution - Missense	Large_intestine
COSM357076	c.2935C>A	p.Q979K	Substitution - Missense	Lung
COSM5009131	c.4040G>T	p.R1347I	Substitution - Missense	Large_intestine
COSM5788833	c.14524G>C	p.G4842R	Substitution - Missense	Breast
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Soft_tissue
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Soft_tissue
COSM5991312	c.7150C>G	p.R2384G	Substitution - Missense	Prostate
COSM324793	c.6371G>T	p.R2124M	Substitution - Missense	Lung
COSM1622594	c.11722C>A	p.P3908T	Substitution - Missense	Liver
COSM4461536	c.12103C>T	p.P4035S	Substitution - Missense	Skin
COSM3262574	c.10251G>A	p.Q3417Q	Substitution - coding silent	Liver
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Soft_tissue
COSM1087592	c.5929C>A	p.Q1977K	Substitution - Missense	Endometrium
COSM1582714	c.3323+1G>A	p.?	Unknown	Stomach
COSM3304356	c.2872-3C>T	p.?	Unknown	Soft_tissue
COSM4162004	c.2646C>A	p.I882I	Substitution - coding silent	Thyroid
COSM5415247	c.9796C>T	p.R3266W	Substitution - Missense	Endometrium
COSM86082	c.2418C>G	p.S806S	Substitution - coding silent	Breast
COSM249560	c.5053G>T	p.A1685S	Substitution - Missense	Oesophagus
COSM1087601	c.5199G>A	p.S1733S	Substitution - coding silent	Endometrium
COSM1166702	c.13432C>T	p.R4478*	Substitution - Nonsense	Breast
COSM5628153	c.1342C>T	p.Q448*	Substitution - Nonsense	Oesophagus
COSM3733336	c.2263C>T	p.Q755*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Upper_aerodigestive_tract
COSM33135	c.1039T>G	p.C347G	Substitution - Missense	Large_intestine
COSM6006417	c.7852C>T	p.Q2618*	Substitution - Nonsense	Central_nervous_system
COSM3366673	c.12667-1G>C	p.?	Unknown	Kidney
COSM5636187	c.4165G>T	p.D1389Y	Substitution - Missense	Oesophagus
COSM1329944	c.3797G>T	p.G1266V	Substitution - Missense	Ovary
COSM4590380	c.7443A>T	p.R2481S	Substitution - Missense	Upper_aerodigestive_tract
COSM4388033	c.2748C>T	p.I916I	Substitution - coding silent	Pancreas
COSM1087666	c.592G>T	p.E198*	Substitution - Nonsense	Endometrium
COSM374622	c.6818C>T	p.S2273F	Substitution - Missense	Lung
COSM3636549	c.972C>T	p.F324F	Substitution - coding silent	Skin
COSM5420759	c.9748C>T	p.Q3250*	Substitution - Nonsense	Prostate
COSM5915686	c.10747C>T	p.P3583S	Substitution - Missense	Skin
COSM3636489	c.8447C>T	p.S2816F	Substitution - Missense	Skin
COSM150428	c.2958A>G	p.P986P	Substitution - coding silent	Soft_tissue
COSM3636473	c.11363C>T	p.S3788F	Substitution - Missense	Skin
COSM5963794	c.4996G>T	p.E1666*	Substitution - Nonsense	Breast
COSM1659062	c.7207C>T	p.R2403*	Substitution - Nonsense	Cervix
COSM4762639	c.4038G>C	p.K1346N	Substitution - Missense	Stomach
COSM85097	c.5919G>T	p.V1973V	Substitution - coding silent	Pancreas
COSM3411823	c.12471A>G	p.L4157L	Substitution - coding silent	Central_nervous_system
COSM4161998	c.2726G>A	p.R909K	Substitution - Missense	Upper_aerodigestive_tract
COSM4594560	c.2591A>G	p.E864G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4449040	c.1622-1G>A	p.?	Unknown	Skin
COSM5026860	c.3354_3355insA	p.T1119fs*2	Insertion - Frameshift	Breast
COSM254822	c.13400A>T	p.K4467M	Substitution - Missense	Urinary_tract
COSM3636537	c.1294T>C	p.C432R	Substitution - Missense	Skin
COSM1087588	c.6082C>T	p.R2028*	Substitution - Nonsense	Stomach
COSM235680	c.10362C>A	p.Y3454*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1184380	c.14651A>G	p.Y4884C	Substitution - Missense	Large_intestine
COSM3879539	c.9755G>A	p.R3252H	Substitution - Missense	Stomach
COSM87212	c.5587C>G	p.P1863A	Substitution - Missense	Soft_tissue
COSM216053	c.2961C>G	p.Y987*	Substitution - Nonsense	Central_nervous_system
COSM225883	c.2968A>G	p.S990G	Substitution - Missense	Soft_tissue
COSM1087503	c.14365C>T	p.R4789*	Substitution - Nonsense	Cervix
COSM1488389	c.13939_13940delAA	p.K4647fs*2	Deletion - Frameshift	Breast
COSM3304460	c.2349C>A	p.S783S	Substitution - coding silent	Liver
COSM162502	c.7442+1G>A	p.?	Unknown	Breast
COSM4605236	c.3743C>G	p.S1248*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM1699615	c.13501A>G	p.M4501V	Substitution - Missense	Skin
COSM5824982	c.2588C>A	p.S863*	Substitution - Nonsense	Pancreas
COSM100082	c.8390_8390delA	p.K2797fs*26	Deletion - Frameshift	Large_intestine
COSM328978	c.8390delA	p.K2797fs*26	Deletion - Frameshift	Large_intestine
COSM4591023	c.871C>T	p.L291F	Substitution - Missense	Upper_aerodigestive_tract
COSM87960	c.7825C>T	p.R2609*	Substitution - Nonsense	Prostate
COSM3781303	c.754C>A	p.H252N	Substitution - Missense	Pancreas
COSM33477	c.1433T>G	p.L478W	Substitution - Missense	Large_intestine
COSM245709	c.13645C>T	p.R4549C	Substitution - Missense	Skin
COSM1312871	c.6109G>C	p.D2037H	Substitution - Missense	Urinary_tract
COSM3304729	c.415T>C	p.C139R	Substitution - Missense	Large_intestine
COSM5915688	c.11668C>A	p.Q3890K	Substitution - Missense	Skin
COSM1181044	c.13488delT	p.F4496fs*21	Deletion - Frameshift	Skin
COSM3636521	c.3042G>A	p.G1014G	Substitution - coding silent	Skin
COSM5567491	c.4850C>G	p.S1617*	Substitution - Nonsense	Prostate
COSM3950207	c.4963C>A	p.L1655I	Substitution - Missense	Lung
COSM4384364	c.470C>T	p.P157L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4591270	c.2512G>A	p.G838S	Substitution - Missense	Upper_aerodigestive_tract
COSM237739	c.10968C>G	p.A3656A	Substitution - coding silent	Prostate
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Central_nervous_system
COSM3636503	c.6284G>A	p.S2095N	Substitution - Missense	Skin
COSM4603590	c.2448_2449insA	p.I817fs*11	Insertion - Frameshift	Upper_aerodigestive_tract
COSM3879587	c.4320A>G	p.T1440T	Substitution - coding silent	Stomach
COSM4547175	c.416G>T	p.C139F	Substitution - Missense	Skin
COSM4809244	c.7147C>T	p.Q2383*	Substitution - Nonsense	Pancreas
COSM4992924	c.8585T>A	p.L2862Q	Substitution - Missense	Skin
COSM5919381	c.10705C>T	p.P3569S	Substitution - Missense	Skin
COSM1581232	c.11374C>A	p.Q3792K	Substitution - Missense	Large_intestine
COSM1179107	c.851G>A	p.R284Q	Substitution - Missense	Thyroid
COSM4595028	c.2681G>A	p.R894Q	Substitution - Missense	Soft_tissue
COSM4164210	c.8252C>T	p.S2751L	Substitution - Missense	Ovary
COSM3675546	c.1099C>G	p.H367D	Substitution - Missense	Liver
COSM4830734	c.11533G>A	p.E3845K	Substitution - Missense	Cervix
COSM3636517	c.4613T>A	p.L1538*	Substitution - Nonsense	Skin
COSM1187472	c.8858G>A	p.S2953N	Substitution - Missense	Lung
COSM4935694	c.6010A>T	p.S2004C	Substitution - Missense	Liver
COSM5490543	c.560C>T	p.S187L	Substitution - Missense	Biliary_tract
COSM5575711	c.13679A>G	p.Q4560R	Substitution - Missense	Stomach
COSM5738228	c.1585C>T	p.P529S	Substitution - Missense	Small_intestine
COSM230133	c.1173C>A	p.C391*	Substitution - Nonsense	Cervix
COSM39428	c.13041G>A	p.P4347P	Substitution - coding silent	Central_nervous_system
COSM240694	c.13990_13996delTTTGGCC	p.F4664fs*1	Deletion - Frameshift	Prostate
COSM141222	c.11215C>A	p.Q3739K	Substitution - Missense	Upper_aerodigestive_tract
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Central_nervous_system
COSM225883	c.2968A>G	p.S990G	Substitution - Missense	Central_nervous_system
COSM357074	c.12466A>G	p.R4156G	Substitution - Missense	Lung
COSM1184368	c.3454G>T	p.E1152*	Substitution - Nonsense	Large_intestine
COSM1582714	c.3323+1G>A	p.?	Unknown	Pancreas
COSM1635198	c.2185A>G	p.N729D	Substitution - Missense	Upper_aerodigestive_tract
COSM150428	c.2958A>G	p.P986P	Substitution - coding silent	Upper_aerodigestive_tract
COSM33306	c.5716C>T	p.R1906*	Substitution - Nonsense	Large_intestine
COSM5630943	c.10519C>T	p.R3507*	Substitution - Nonsense	Oesophagus
COSM1131647	c.2755G>C	p.V919L	Substitution - Missense	Soft_tissue
COSM3374565	c.11541G>C	p.K3847N	Substitution - Missense	Thyroid
COSM328978	c.8390delA	p.K2797fs*26	Deletion - Frameshift	Skin
COSM1177096	c.4724A>C	p.N1575T	Substitution - Missense	Endometrium
COSM452728	c.2379G>A	p.S793S	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM452728	c.2379G>A	p.S793S	Substitution - coding silent	Thyroid
COSM452742	c.1099C>T	p.H367Y	Substitution - Missense	Skin
COSM4762636	c.6754C>T	p.Q2252*	Substitution - Nonsense	Stomach
COSM4820232	c.8575C>T	p.H2859Y	Substitution - Missense	Cervix
COSM230133	c.1173C>A	p.C391*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM4590380	c.7443A>T	p.R2481S	Substitution - Missense	Upper_aerodigestive_tract
COSM4162000	c.2706G>A	p.S902S	Substitution - coding silent	Thyroid
COSM2153785	c.12899C>A	p.S4300Y	Substitution - Missense	Central_nervous_system
COSM4386171	c.2228C>T	p.P743L	Substitution - Missense	Large_intestine
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Upper_aerodigestive_tract
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Upper_aerodigestive_tract
COSM1087538	c.11610G>T	p.K3870N	Substitution - Missense	Endometrium
COSM3636457	c.13019G>A	p.G4340D	Substitution - Missense	Skin
COSM224951	c.2170A>T	p.K724*	Substitution - Nonsense	Kidney
COSM1087647	c.2519C>T	p.P840L	Substitution - Missense	Endometrium
COSM1312869	c.7361G>C	p.R2454T	Substitution - Missense	Urinary_tract
COSM3411835	c.2470G>C	p.G824R	Substitution - Missense	Central_nervous_system
COSM3832356	c.5509A>C	p.T1837P	Substitution - Missense	Breast
COSM4381931	c.943G>T	p.G315C	Substitution - Missense	Central_nervous_system
COSM4505586	c.6973C>T	p.Q2325*	Substitution - Nonsense	Skin
COSM1179107	c.851G>A	p.R284Q	Substitution - Missense	Large_intestine
COSM225257	c.2915G>A	p.G972E	Substitution - Missense	Skin
COSM150424	c.5068A>C	p.R1690R	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM4960570	c.6046G>A	p.V2016M	Substitution - Missense	Liver
COSM206276	c.1966G>A	p.V656I	Substitution - Missense	Prostate
COSM4606035	c.863G>T	p.C288F	Substitution - Missense	Upper_aerodigestive_tract
COSM3879600	c.1846G>A	p.E616K	Substitution - Missense	Stomach
COSM270772	c.13561G>A	p.V4521I	Substitution - Missense	Large_intestine
COSM452714	c.4456G>T	p.E1486*	Substitution - Nonsense	Breast
COSM3879531	c.10556C>T	p.S3519L	Substitution - Missense	Stomach
COSM1581234	c.10763C>T	p.S3588L	Substitution - Missense	Central_nervous_system
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Central_nervous_system
COSM3636529	c.2417C>T	p.S806F	Substitution - Missense	Skin
COSM206250	c.13577A>G	p.Y4526C	Substitution - Missense	Prostate
COSM1184390	c.8650C>T	p.R2884*	Substitution - Nonsense	Breast
COSM3304725	c.427delA	p.S143fs*3	Deletion - Frameshift	Skin
COSM4466764	c.14515C>T	p.L4839F	Substitution - Missense	Skin
COSM4603590	c.2448_2449insA	p.I817fs*11	Insertion - Frameshift	Upper_aerodigestive_tract
COSM5558732	c.5111T>A	p.L1704*	Substitution - Nonsense	Prostate
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Soft_tissue
COSM4909142	c.1050G>A	p.P350P	Substitution - coding silent	Large_intestine
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Central_nervous_system
COSM3950209	c.4596C>G	p.N1532K	Substitution - Missense	Lung
COSM5932084	c.7981C>T	p.P2661S	Substitution - Missense	Skin
COSM4604062	c.11060G>A	p.S3687N	Substitution - Missense	Upper_aerodigestive_tract
COSM1179669	c.943G>A	p.G315S	Substitution - Missense	Central_nervous_system
COSM1087558	c.9172C>A	p.L3058I	Substitution - Missense	Endometrium
COSM225885	c.1139G>T	p.R380L	Substitution - Missense	Soft_tissue
COSM364771	c.7894C>T	p.Q2632*	Substitution - Nonsense	Lung
COSM1488401	c.3005G>A	p.W1002*	Substitution - Nonsense	Breast
COSM4591270	c.2512G>A	p.G838S	Substitution - Missense	Upper_aerodigestive_tract
COSM4654220	c.11512C>T	p.P3838S	Substitution - Missense	Large_intestine
COSM5908769	c.2258C>T	p.S753L	Substitution - Missense	Skin
COSM6007415	c.8923G>C	p.V2975L	Substitution - Missense	Prostate
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Central_nervous_system
COSM5075578	c.2749G>A	p.G917R	Substitution - Missense	Kidney
COSM4162024	c.946A>T	p.T316S	Substitution - Missense	Upper_aerodigestive_tract
COSM5008563	c.707C>T	p.A236V	Substitution - Missense	Large_intestine
COSM4388641	c.162-4G>T	p.?	Unknown	Pancreas
COSM3950199	c.13433G>C	p.R4478P	Substitution - Missense	Lung
COSM224951	c.2170A>T	p.K724*	Substitution - Nonsense	Skin
COSM4162018	c.2315C>T	p.S772L	Substitution - Missense	Skin
COSM4591270	c.2512G>A	p.G838S	Substitution - Missense	Large_intestine
COSM86082	c.2418C>G	p.S806S	Substitution - coding silent	Central_nervous_system
COSM230133	c.1173C>A	p.C391*	Substitution - Nonsense	Soft_tissue
COSM4603590	c.2448_2449insA	p.I817fs*11	Insertion - Frameshift	Upper_aerodigestive_tract
COSM4824194	c.6481C>T	p.Q2161*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM1241439	c.12195G>A	p.A4065A	Substitution - coding silent	Large_intestine
COSM5029834	c.3842G>A	p.G1281D	Substitution - Missense	Bone
COSM87962	c.6589C>T	p.Q2197*	Substitution - Nonsense	Central_nervous_system
COSM3995460	c.13021G>T	p.G4341W	Substitution - Missense	Kidney
COSM4162018	c.2315C>T	p.S772L	Substitution - Missense	Upper_aerodigestive_tract
COSM4384318	c.9613C>T	p.H3205Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM86082	c.2418C>G	p.S806S	Substitution - coding silent	Thyroid
COSM1184374	c.7435G>A	p.G2479R	Substitution - Missense	Large_intestine
COSM1087674	c.167G>A	p.R56Q	Substitution - Missense	Endometrium
COSM100082	c.8390_8390delA	p.K2797fs*26	Deletion - Frameshift	Large_intestine
COSM4386171	c.2228C>T	p.P743L	Substitution - Missense	Pancreas
COSM276078	c.12921C>T	p.I4307I	Substitution - coding silent	Large_intestine
COSM5991626	c.?	p.I155T	Substitution - Missense	Large_intestine
COSM4768617	c.1038G>A	p.V346V	Substitution - coding silent	Biliary_tract
COSM100083	c.10313G>A	p.G3438D	Substitution - Missense	Large_intestine
COSM1180098	c.1005T>A	p.P335P	Substitution - coding silent	Soft_tissue
COSM1329952	c.12935C>A	p.A4312D	Substitution - Missense	Ovary
COSM3636557	c.947C>T	p.T316I	Substitution - Missense	Skin
COSM4006667	c.3340T>C	p.C1114R	Substitution - Missense	Oesophagus
COSM4409315	c.1255C>T	p.Q419*	Substitution - Nonsense	Oesophagus
COSM4992938	c.5583delG	p.I1862fs*77	Deletion - Frameshift	Skin
COSM5009480	c.8040G>A	p.Q2680Q	Substitution - coding silent	Soft_tissue
COSM1635198	c.2185A>G	p.N729D	Substitution - Missense	Pancreas
COSM4162008	c.2578C>T	p.P860S	Substitution - Missense	Thyroid
COSM1635196	c.2304A>G	p.S768S	Substitution - coding silent	Liver
COSM150428	c.2958A>G	p.P986P	Substitution - coding silent	Soft_tissue
COSM4162024	c.946A>T	p.T316S	Substitution - Missense	Upper_aerodigestive_tract
COSM4161996	c.2763A>G	p.L921L	Substitution - coding silent	Thyroid
COSM5018833	c.5152delA	p.R1718fs*23	Deletion - Frameshift	Soft_tissue
COSM3304628	c.988C>A	p.H330N	Substitution - Missense	Prostate
COSM1719512	c.7612_7613CC>TT	p.P2538F	Substitution - Missense	Skin
COSM225885	c.1139G>T	p.R380L	Substitution - Missense	Soft_tissue
COSM5752171	c.13527_13545del19	p.K4509fs*2	Deletion - Frameshift	Breast
COSM225883	c.2968A>G	p.S990G	Substitution - Missense	Skin
COSM3879608	c.877G>A	p.A293T	Substitution - Missense	Stomach
COSM4162018	c.2315C>T	p.S772L	Substitution - Missense	Upper_aerodigestive_tract
COSM1635198	c.2185A>G	p.N729D	Substitution - Missense	Upper_aerodigestive_tract
COSM3636479	c.9853C>T	p.Q3285*	Substitution - Nonsense	Skin
COSM5800997	c.1221_1222insA	p.T408fs*3	Insertion - Frameshift	Breast
COSM1087501	c.14416C>T	p.R4806*	Substitution - Nonsense	Endometrium
COSM328978	c.8390delA	p.K2797fs*26	Deletion - Frameshift	Salivary_gland
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Upper_aerodigestive_tract
COSM452724	c.2930G>A	p.C977Y	Substitution - Missense	Breast
COSM2153751	c.12901C>G	p.P4301A	Substitution - Missense	Central_nervous_system
COSM4384334	c.5065delG	p.E1689fs*28	Deletion - Frameshift	Breast
COSM4774834	c.2942G>A	p.G981D	Substitution - Missense	Breast
COSM5757016	c.12906_12907insT	p.A4303fs*12	Insertion - Frameshift	Large_intestine
COSM5985274	c.2702T>C	p.L901P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Upper_aerodigestive_tract
COSM150428	c.2958A>G	p.P986P	Substitution - coding silent	Soft_tissue
COSM5807942	c.1611G>T	p.E537D	Substitution - Missense	Liver
COSM4388600	c.162-6C>T	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM228110	c.1042G>A	p.D348N	Substitution - Missense	Soft_tissue
COSM1159415	c.8246T>G	p.L2749*	Substitution - Nonsense	Pancreas
COSM1673695	c.13162A>C	p.T4388P	Substitution - Missense	Kidney
COSM3832358	c.5502A>C	p.P1834P	Substitution - coding silent	Breast
COSM3923200	c.4489G>A	p.D1497N	Substitution - Missense	Skin
COSM4162018	c.2315C>T	p.S772L	Substitution - Missense	Upper_aerodigestive_tract
COSM4162020	c.2189C>A	p.S730Y	Substitution - Missense	Upper_aerodigestive_tract
COSM4591270	c.2512G>A	p.G838S	Substitution - Missense	Upper_aerodigestive_tract
COSM86082	c.2418C>G	p.S806S	Substitution - coding silent	Large_intestine
COSM245709	c.13645C>T	p.R4549C	Substitution - Missense	Prostate
COSM1179107	c.851G>A	p.R284Q	Substitution - Missense	Soft_tissue
COSM5194294	c.7307_7308insC	p.P2437fs*8	Insertion - Frameshift	Breast
COSM4992922	c.8593G>A	p.G2865R	Substitution - Missense	Skin
COSM4384322	c.8092G>A	p.E2698K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4162018	c.2315C>T	p.S772L	Substitution - Missense	Upper_aerodigestive_tract
COSM4591270	c.2512G>A	p.G838S	Substitution - Missense	Upper_aerodigestive_tract
COSM86082	c.2418C>G	p.S806S	Substitution - coding silent	Large_intestine
COSM5752534	c.4853C>G	p.S1618*	Substitution - Nonsense	Breast
COSM4771399	c.4406C>T	p.S1469F	Substitution - Missense	Breast
COSM4162008	c.2578C>T	p.P860S	Substitution - Missense	Large_intestine
COSM1312877	c.4541-1G>C	p.?	Unknown	Urinary_tract
COSM4888677	c.3345G>A	p.Q1115Q	Substitution - coding silent	Upper_aerodigestive_tract
COSM5620022	c.12436G>T	p.G4146W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM206276	c.1966G>A	p.V656I	Substitution - Missense	Prostate
COSM3304074	c.9142C>T	p.L3048L	Substitution - coding silent	Large_intestine
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Upper_aerodigestive_tract
COSM339889	c.12413A>T	p.Y4138F	Substitution - Missense	Lung
COSM1180098	c.1005T>A	p.P335P	Substitution - coding silent	Soft_tissue
COSM3636547	c.979T>C	p.C327R	Substitution - Missense	Skin
COSM4006667	c.3340T>C	p.C1114R	Substitution - Missense	Thyroid
COSM5062316	c.11413A>G	p.T3805A	Substitution - Missense	Stomach
COSM5986707	c.14047_14073del27	p.A4683_Y4691delACENYTFRY	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM4384320	c.9530G>A	p.R3177H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1179107	c.851G>A	p.R284Q	Substitution - Missense	Upper_aerodigestive_tract
COSM237743	c.8739A>T	p.G2913G	Substitution - coding silent	Prostate
COSM308290	c.12993G>C	p.L4331L	Substitution - coding silent	Biliary_tract
COSM4949666	c.2815T>G	p.S939A	Substitution - Missense	Liver
COSM3733684	c.10659_10660insT	p.T3554fs*12	Insertion - Frameshift	Pancreas
COSM4162018	c.2315C>T	p.S772L	Substitution - Missense	Upper_aerodigestive_tract
COSM4972048	c.1000delG	p.A334fs*21	Deletion - Frameshift	Central_nervous_system
COSM4824099	c.6658C>T	p.Q2220*	Substitution - Nonsense	Breast
COSM333705	c.2462C>T	p.P821L	Substitution - Missense	Lung
COSM1087513	c.14025G>A	p.A4675A	Substitution - coding silent	Endometrium
COSM1180098	c.1005T>A	p.P335P	Substitution - coding silent	Soft_tissue
COSM4162022	c.1131A>T	p.P377P	Substitution - coding silent	Thyroid
COSM4381097	c.?	p.G292E	Substitution - Missense	Breast
COSM4702490	c.10298A>G	p.Q3433R	Substitution - Missense	Large_intestine
COSM1673701	c.10768A>C	p.I3590L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1163749	c.4051delA	p.R1351fs*23	Deletion - Frameshift	Stomach
COSM86081	c.2467_2468insA	p.I823fs*5	Insertion - Frameshift	Breast
COSM3832342	c.9451C>T	p.Q3151*	Substitution - Nonsense	Breast
COSM4161998	c.2726G>A	p.R909K	Substitution - Missense	Upper_aerodigestive_tract
COSM4384310	c.10538C>T	p.P3513L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4989160	c.8312G>A	p.S2771N	Substitution - Missense	Soft_tissue
COSM5770094	c.12666G>A	p.K4222K	Substitution - coding silent	Breast
COSM86082	c.2418C>G	p.S806S	Substitution - coding silent	Soft_tissue
COSM249560	c.5053G>T	p.A1685S	Substitution - Missense	Prostate
COSM5644438	c.11242G>A	p.A3748T	Substitution - Missense	Oesophagus
COSM225881	c.3931A>G	p.I1311V	Substitution - Missense	Skin
COSM461646	c.10632C>T	p.F3544F	Substitution - coding silent	Cervix
COSM1087515	c.13983G>A	p.E4661E	Substitution - coding silent	Endometrium
COSM4162022	c.1131A>T	p.P377P	Substitution - coding silent	Large_intestine
COSM4770500	c.11594C>G	p.S3865*	Substitution - Nonsense	Breast
COSM5008659	c.10898C>T	p.P3633L	Substitution - Missense	Large_intestine
COSM1286211	c.10938G>T	p.V3646V	Substitution - coding silent	Autonomic_ganglia
COSM3636535	c.2251G>A	p.D751N	Substitution - Missense	Skin
COSM1312887	c.2392C>G	p.H798D	Substitution - Missense	Urinary_tract
COSM2153755	c.12903C>A	p.P4301P	Substitution - coding silent	Central_nervous_system
COSM3733336	c.2263C>T	p.Q755*	Substitution - Nonsense	Thyroid
COSM383536	c.7615C>T	p.Q2539*	Substitution - Nonsense	Oesophagus
COSM5765650	c.887A>G	p.K296R	Substitution - Missense	Large_intestine
COSM228110	c.1042G>A	p.D348N	Substitution - Missense	Large_intestine
COSM228110	c.1042G>A	p.D348N	Substitution - Missense	Soft_tissue
COSM124455	c.12250A>C	p.I4084L	Substitution - Missense	Upper_aerodigestive_tract
COSM227525	c.2294A>G	p.E765G	Substitution - Missense	Central_nervous_system
COSM1581242	c.7829G>A	p.R2610Q	Substitution - Missense	Upper_aerodigestive_tract
COSM3733435	c.10981G>A	p.V3661M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM86082	c.2418C>G	p.S806S	Substitution - coding silent	Skin
COSM1087653	c.1610A>G	p.E537G	Substitution - Missense	Endometrium
COSM4595028	c.2681G>A	p.R894Q	Substitution - Missense	Breast
COSM5014770	c.5363T>G	p.F1788C	Substitution - Missense	Kidney
COSM4162002	c.2656C>T	p.R886C	Substitution - Missense	Thyroid
COSM1449410	c.9003C>T	p.N3001N	Substitution - coding silent	Large_intestine
COSM289942	c.2447_2448insA	p.Y816fs*1	Insertion - Frameshift	Skin
COSM87960	c.7825C>T	p.R2609*	Substitution - Nonsense	Stomach
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Central_nervous_system
COSM4162010	c.2573G>T	p.W858L	Substitution - Missense	Thyroid
COSM4775554	c.9518-6delC	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5413619	c.7443-7_7443-6delTT	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM86082	c.2418C>G	p.S806S	Substitution - coding silent	Soft_tissue
COSM1087511	c.14078G>A	p.R4693Q	Substitution - Missense	Endometrium
COSM216777	c.5065G>T	p.E1689*	Substitution - Nonsense	Pancreas
COSM5047850	c.4439C>G	p.S1480*	Substitution - Nonsense	Prostate
COSM4702502	c.6792G>A	p.P2264P	Substitution - coding silent	Large_intestine
COSM340281	c.980G>T	p.C327F	Substitution - Missense	Large_intestine
COSM396249	c.5467C>T	p.Q1823*	Substitution - Nonsense	Lung
COSM1730567	c.5794G>C	p.V1932L	Substitution - Missense	Liver
COSM4604808	c.2318C>T	p.S773L	Substitution - Missense	Cervix
COSM4591270	c.2512G>A	p.G838S	Substitution - Missense	Upper_aerodigestive_tract
COSM4771545	c.952C>T	p.Q318*	Substitution - Nonsense	Breast
COSM5021163	c.5952A>C	p.L1984L	Substitution - coding silent	Soft_tissue
COSM3879561	c.7529T>C	p.V2510A	Substitution - Missense	Stomach
COSM5964208	c.13259T>G	p.L4420R	Substitution - Missense	Breast
COSM5046934	c.13652G>C	p.G4551A	Substitution - Missense	Oesophagus
COSM5912638	c.10367C>T	p.S3456F	Substitution - Missense	Skin
COSM485095	c.3309T>A	p.C1103*	Substitution - Nonsense	Soft_tissue
COSM3879594	c.2760A>G	p.V920V	Substitution - coding silent	Stomach
COSM3879537	c.10138C>T	p.P3380S	Substitution - Missense	Stomach
COSM1488415	c.325C>T	p.Q109*	Substitution - Nonsense	Breast
COSM3879543	c.9517+2T>C	p.?	Unknown	Stomach
COSM5997327	c.3936C>T	p.S1312S	Substitution - coding silent	Prostate
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Large_intestine
COSM5431603	c.2530C>A	p.Q844K	Substitution - Missense	Oesophagus
COSM1179107	c.851G>A	p.R284Q	Substitution - Missense	Soft_tissue
COSM3879565	c.7256C>A	p.P2419H	Substitution - Missense	Stomach
COSM4384308	c.10748C>T	p.P3583L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1179669	c.943G>A	p.G315S	Substitution - Missense	Soft_tissue
COSM452676	c.12470delT	p.L4157fs*1	Deletion - Frameshift	Breast
COSM5915684	c.6212C>T	p.P2071L	Substitution - Missense	Skin
COSM100083	c.10313G>A	p.G3438D	Substitution - Missense	Large_intestine
COSM302656	c.1138C>T	p.R380C	Substitution - Missense	Central_nervous_system
COSM3636449	c.14545C>T	p.H4849Y	Substitution - Missense	Skin
COSM4161998	c.2726G>A	p.R909K	Substitution - Missense	Upper_aerodigestive_tract
COSM4162010	c.2573G>T	p.W858L	Substitution - Missense	Lung
COSM4594560	c.2591A>G	p.E864G	Substitution - Missense	Upper_aerodigestive_tract
COSM3832344	c.9442G>T	p.A3148S	Substitution - Missense	Breast
COSM745897	c.14032C>A	p.L4678I	Substitution - Missense	Lung
COSM1187474	c.5335G>C	p.E1779Q	Substitution - Missense	Lung
COSM4992930	c.8000C>T	p.P2667L	Substitution - Missense	Skin
COSM1581250	c.6034C>T	p.P2012S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Soft_tissue
COSM225885	c.1139G>T	p.R380L	Substitution - Missense	Soft_tissue
COSM5752171	c.13527_13545del19	p.K4509fs*2	Deletion - Frameshift	Breast
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Soft_tissue
COSM225883	c.2968A>G	p.S990G	Substitution - Missense	Soft_tissue
COSM4162018	c.2315C>T	p.S772L	Substitution - Missense	Thyroid
COSM4381931	c.943G>T	p.G315C	Substitution - Missense	Skin
COSM5563440	c.6739C>T	p.Q2247*	Substitution - Nonsense	Prostate
COSM5943039	c.2818_2819insT	p.M940fs*10	Insertion - Frameshift	Skin
COSM1488409	c.967A>G	p.I323V	Substitution - Missense	Soft_tissue
COSM1179107	c.851G>A	p.R284Q	Substitution - Missense	Soft_tissue
COSM1581246	c.6965T>C	p.V2322A	Substitution - Missense	Large_intestine
COSM5738224	c.11572G>A	p.G3858S	Substitution - Missense	Small_intestine
COSM4361026	c.1095C>G	p.H365Q	Substitution - Missense	Breast
COSM328978	c.8390delA	p.K2797fs*26	Deletion - Frameshift	Breast
COSM1719514	c.5725C>G	p.P1909A	Substitution - Missense	Skin
COSM1179669	c.943G>A	p.G315S	Substitution - Missense	Soft_tissue
COSM5669379	c.8651G>C	p.R2884P	Substitution - Missense	Soft_tissue
COSM1635194	c.7089A>C	p.G2363G	Substitution - coding silent	Liver
COSM1449426	c.6875delC	p.P2292fs*13	Deletion - Frameshift	Large_intestine
COSM2153753	c.12902C>A	p.P4301H	Substitution - Missense	Central_nervous_system
COSM3982068	c.14336G>T	p.R4779L	Substitution - Missense	Oesophagus
COSM4770311	c.7443-1delG	p.?	Unknown	Adrenal_gland
COSM4909142	c.1050G>A	p.P350P	Substitution - coding silent	Large_intestine
COSM5009121	c.8477T>C	p.V2826A	Substitution - Missense	Large_intestine
COSM3262499	c.11983C>T	p.R3995*	Substitution - Nonsense	Large_intestine
COSM1194277	c.13717A>G	p.K4573E	Substitution - Missense	Lung
COSM452668	c.13729_13730delCC	p.P4577fs*4	Deletion - Frameshift	Breast
COSM3411833	c.2891G>T	p.G964V	Substitution - Missense	Central_nervous_system
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Soft_tissue
COSM452728	c.2379G>A	p.S793S	Substitution - coding silent	Large_intestine
COSM3995462	c.5051A>C	p.K1684T	Substitution - Missense	Kidney
COSM452742	c.1099C>T	p.H367Y	Substitution - Missense	Breast
COSM3304676	c.906T>A	p.C302*	Substitution - Nonsense	Kidney
COSM3304185	c.5514T>C	p.P1838P	Substitution - coding silent	Large_intestine
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Soft_tissue
COSM396785	c.2674G>A	p.G892R	Substitution - Missense	Skin
COSM3879585	c.4437T>C	p.S1479S	Substitution - coding silent	Stomach
COSM5752823	c.4524_4525insA	p.L1509fs*3	Insertion - Frameshift	Breast
COSM5026856	c.11528_11531delGAAG	p.G3843fs*45	Deletion - Frameshift	Breast
COSM3411829	c.3767C>G	p.A1256G	Substitution - Missense	Central_nervous_system
COSM1622598	c.5592C>T	p.I1864I	Substitution - coding silent	Liver
COSM3304324	c.2926G>A	p.A976T	Substitution - Missense	Soft_tissue
COSM4384314	c.10208G>A	p.R3403H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4388600	c.162-6C>T	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM228110	c.1042G>A	p.D348N	Substitution - Missense	Soft_tissue
COSM5835364	c.6984_6985insA	p.G2329fs*38	Insertion - Frameshift	Breast
COSM225883	c.2968A>G	p.S990G	Substitution - Missense	Skin
COSM227525	c.2294A>G	p.E765G	Substitution - Missense	Skin
COSM745837	c.1290G>C	p.W430C	Substitution - Missense	Lung
COSM1087521	c.13040C>T	p.P4347L	Substitution - Missense	Endometrium
COSM4162018	c.2315C>T	p.S772L	Substitution - Missense	Upper_aerodigestive_tract
COSM4594560	c.2591A>G	p.E864G	Substitution - Missense	Skin
COSM3262449	c.13003C>G	p.L4335V	Substitution - Missense	Large_intestine
COSM5710460	c.7348C>T	p.P2450S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM150428	c.2958A>G	p.P986P	Substitution - coding silent	Central_nervous_system
COSM302660	c.4537C>A	p.P1513T	Substitution - Missense	Central_nervous_system
COSM3733336	c.2263C>T	p.Q755*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM5009480	c.8040G>A	p.Q2680Q	Substitution - coding silent	Large_intestine
COSM5698922	c.13041G>T	p.P4347P	Substitution - coding silent	Soft_tissue
COSM4384356	c.1823A>G	p.Q608R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM230133	c.1173C>A	p.C391*	Substitution - Nonsense	Soft_tissue
COSM4595028	c.2681G>A	p.R894Q	Substitution - Missense	Soft_tissue
COSM1635190	c.11827G>A	p.G3943R	Substitution - Missense	Liver
COSM6006416	c.4088T>A	p.L1363*	Substitution - Nonsense	Central_nervous_system
COSM328978	c.8390delA	p.K2797fs*26	Deletion - Frameshift	Skin
COSM1179669	c.943G>A	p.G315S	Substitution - Missense	Liver
COSM3636541	c.1114G>A	p.D372N	Substitution - Missense	Skin
COSM5358086	c.3084T>A	p.C1028*	Substitution - Nonsense	Large_intestine
COSM228110	c.1042G>A	p.D348N	Substitution - Missense	Thyroid
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Upper_aerodigestive_tract
COSM397338	c.10817G>A	p.R3606K	Substitution - Missense	Lung
COSM3636463	c.12227G>C	p.R4076T	Substitution - Missense	Skin
COSM4909142	c.1050G>A	p.P350P	Substitution - coding silent	Large_intestine
COSM5009117	c.11262C>A	p.S3754S	Substitution - coding silent	Large_intestine
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Central_nervous_system
COSM5437034	c.7443-2_7443-1insA	p.?	Unknown	Oesophagus
COSM213176	c.10036C>G	p.L3346V	Substitution - Missense	Breast
COSM1449466	c.1412G>T	p.G471V	Substitution - Missense	Large_intestine
COSM5210619	c.620delC	p.S207fs*3	Deletion - Frameshift	Breast
COSM228110	c.1042G>A	p.D348N	Substitution - Missense	Soft_tissue
COSM4387636	c.2657G>A	p.R886H	Substitution - Missense	Skin
COSM225883	c.2968A>G	p.S990G	Substitution - Missense	Soft_tissue
COSM1257799	c.11549G>A	p.R3850Q	Substitution - Missense	Stomach
COSM5230498	c.11037delA	p.E3679fs*2	Deletion - Frameshift	Breast
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Soft_tissue
COSM1635198	c.2185A>G	p.N729D	Substitution - Missense	Lung
COSM3374571	c.6016C>T	p.H2006Y	Substitution - Missense	Thyroid
COSM5563314	c.4602G>A	p.Q1534Q	Substitution - coding silent	Prostate
COSM1087499	c.14549C>T	p.S4850L	Substitution - Missense	Skin
COSM4767627	c.3520C>T	p.Q1174*	Substitution - Nonsense	Biliary_tract
COSM745853	c.3421C>T	p.P1141S	Substitution - Missense	Upper_aerodigestive_tract
COSM4591270	c.2512G>A	p.G838S	Substitution - Missense	Upper_aerodigestive_tract
COSM6006418	c.7465C>T	p.H2489Y	Substitution - Missense	Central_nervous_system
COSM3674880	c.2892C>T	p.G964G	Substitution - coding silent	Prostate
COSM5991310	c.14624G>A	p.R4875K	Substitution - Missense	Prostate
COSM1730868	c.4249G>A	p.A1417T	Substitution - Missense	Liver
COSM1449384	c.12586_12587delCA	p.Q4196fs*6	Deletion - Frameshift	Large_intestine
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Soft_tissue
COSM254820	c.9034C>T	p.Q3012*	Substitution - Nonsense	Urinary_tract
COSM3366675	c.5060C>A	p.S1687*	Substitution - Nonsense	Kidney
COSM4162018	c.2315C>T	p.S772L	Substitution - Missense	Upper_aerodigestive_tract
COSM4162018	c.2315C>T	p.S772L	Substitution - Missense	Skin
COSM3636527	c.2426G>A	p.G809E	Substitution - Missense	Skin
COSM4591023	c.871C>T	p.L291F	Substitution - Missense	Upper_aerodigestive_tract
COSM1488413	c.390-2A>C	p.?	Unknown	Breast
COSM452742	c.1099C>T	p.H367Y	Substitution - Missense	Skin
COSM3394628	c.5814G>A	p.M1938I	Substitution - Missense	Pancreas
COSM100084	c.13630C>T	p.R4544W	Substitution - Missense	Large_intestine
COSM87960	c.7825C>T	p.R2609*	Substitution - Nonsense	Central_nervous_system
COSM254818	c.658C>T	p.Q220*	Substitution - Nonsense	Urinary_tract
COSM3832352	c.5649A>C	p.S1883S	Substitution - coding silent	Breast
COSM4161998	c.2726G>A	p.R909K	Substitution - Missense	Upper_aerodigestive_tract
COSM4162010	c.2573G>T	p.W858L	Substitution - Missense	Thyroid
COSM5835356	c.12995delA	p.K4332fs*4	Deletion - Frameshift	Breast
COSM5944537	c.14302_14303insT	p.E4768fs*25	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5997727	c.7282G>A	p.V2428I	Substitution - Missense	Prostate
COSM1673703	c.10628G>A	p.S3543N	Substitution - Missense	Large_intestine
COSM5761148	c.2198delC	p.S733fs*4	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM383536	c.7615C>T	p.Q2539*	Substitution - Nonsense	Lung
COSM3304524	c.1576C>T	p.R526C	Substitution - Missense	Stomach
COSM5020537	c.14550G>A	p.S4850S	Substitution - coding silent	Soft_tissue
COSM1179669	c.943G>A	p.G315S	Substitution - Missense	Soft_tissue
COSM452728	c.2379G>A	p.S793S	Substitution - coding silent	Breast
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Central_nervous_system
COSM85092	c.12929C>T	p.P4310L	Substitution - Missense	Pancreas
COSM1137662	c.12975G>T	p.L4325L	Substitution - coding silent	Kidney
COSM1180098	c.1005T>A	p.P335P	Substitution - coding silent	Prostate
COSM3636461	c.12433C>T	p.R4145C	Substitution - Missense	Skin
COSM4161998	c.2726G>A	p.R909K	Substitution - Missense	Upper_aerodigestive_tract
COSM5021552	c.2532+6G>T	p.?	Unknown	Bone
COSM4587277	c.1017G>C	p.K339N	Substitution - Missense	Pancreas
COSM485095	c.3309T>A	p.C1103*	Substitution - Nonsense	Kidney
COSM4591023	c.871C>T	p.L291F	Substitution - Missense	Upper_aerodigestive_tract
COSM5547663	c.5743delT	p.S1915fs*24	Deletion - Frameshift	Prostate
COSM5895921	c.11842C>T	p.Q3948*	Substitution - Nonsense	Skin
COSM1087659	c.947C>G	p.T316S	Substitution - Missense	Prostate
COSM75426	c.10040A>G	p.N3347S	Substitution - Missense	Ovary
COSM4162014	c.2534G>A	p.G845E	Substitution - Missense	Upper_aerodigestive_tract
COSM5009480	c.8040G>A	p.Q2680Q	Substitution - coding silent	Soft_tissue
COSM312890	c.13822C>T	p.R4608C	Substitution - Missense	Stomach
COSM254822	c.13400A>T	p.K4467M	Substitution - Missense	Urinary_tract
COSM4702516	c.1736-2A>C	p.?	Unknown	Large_intestine
COSM3374567	c.10771C>T	p.Q3591*	Substitution - Nonsense	Thyroid
COSM1241439	c.12195G>A	p.A4065A	Substitution - coding silent	Oesophagus
COSM3950201	c.12003T>C	p.F4001F	Substitution - coding silent	Lung
COSM4161998	c.2726G>A	p.R909K	Substitution - Missense	Thyroid
COSM1131647	c.2755G>C	p.V919L	Substitution - Missense	Soft_tissue
COSM3923202	c.2944C>T	p.Q982*	Substitution - Nonsense	Skin
COSM4824099	c.6658C>T	p.Q2220*	Substitution - Nonsense	Breast
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Thyroid
COSM485083	c.7330A>G	p.R2444G	Substitution - Missense	Kidney
COSM5963277	c.11871G>A	p.L3957L	Substitution - coding silent	Breast
COSM3733336	c.2263C>T	p.Q755*	Substitution - Nonsense	Skin
COSM4385538	c.9347T>C	p.L3116P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3304668	c.918T>G	p.Y306*	Substitution - Nonsense	Breast
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Soft_tissue
COSM3636511	c.5005C>T	p.P1669S	Substitution - Missense	Skin
COSM218914	c.3683C>A	p.S1228*	Substitution - Nonsense	Pancreas
COSM4162008	c.2578C>T	p.P860S	Substitution - Missense	Thyroid
COSM1087542	c.10899G>A	p.P3633P	Substitution - coding silent	Endometrium
COSM5775848	c.1193G>A	p.G398E	Substitution - Missense	Breast
COSM4960570	c.6046G>A	p.V2016M	Substitution - Missense	Liver
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Soft_tissue
COSM452728	c.2379G>A	p.S793S	Substitution - coding silent	Large_intestine
COSM225885	c.1139G>T	p.R380L	Substitution - Missense	Thyroid
COSM33096	c.11092A>T	p.T3698S	Substitution - Missense	Large_intestine
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Central_nervous_system
COSM3879612	c.721G>T	p.A241S	Substitution - Missense	Stomach
COSM4384334	c.5065delG	p.E1689fs*28	Deletion - Frameshift	Breast
COSM4909142	c.1050G>A	p.P350P	Substitution - coding silent	Lung
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Central_nervous_system
COSM1161665	c.6434A>G	p.Y2145C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM452690	c.11266delG	p.A3756fs*22	Deletion - Frameshift	Breast
COSM1179107	c.851G>A	p.R284Q	Substitution - Missense	Soft_tissue
COSM218912	c.11056A>C	p.N3686H	Substitution - Missense	Pancreas
COSM1087599	c.5345A>C	p.Q1782P	Substitution - Missense	Endometrium
COSM150428	c.2958A>G	p.P986P	Substitution - coding silent	Kidney
COSM384131	c.11146G>T	p.E3716*	Substitution - Nonsense	Lung
COSM1137668	c.2309T>A	p.F770Y	Substitution - Missense	Kidney
COSM1087633	c.3249C>T	p.S1083S	Substitution - coding silent	Endometrium
COSM1184390	c.8650C>T	p.R2884*	Substitution - Nonsense	Biliary_tract
COSM4161998	c.2726G>A	p.R909K	Substitution - Missense	Thyroid
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Breast
COSM3674882	c.993T>A	p.I331I	Substitution - coding silent	Prostate
COSM4829943	c.7261C>T	p.Q2421*	Substitution - Nonsense	Cervix
COSM745837	c.1290G>C	p.W430C	Substitution - Missense	Breast
COSM4594560	c.2591A>G	p.E864G	Substitution - Missense	Upper_aerodigestive_tract
COSM4590380	c.7443A>T	p.R2481S	Substitution - Missense	Upper_aerodigestive_tract
COSM230133	c.1173C>A	p.C391*	Substitution - Nonsense	Large_intestine
COSM4595028	c.2681G>A	p.R894Q	Substitution - Missense	Upper_aerodigestive_tract
COSM1449484	c.568C>T	p.R190*	Substitution - Nonsense	Pancreas
COSM4409916	c.743C>T	p.T248I	Substitution - Missense	Oesophagus
COSM3733336	c.2263C>T	p.Q755*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3733336	c.2263C>T	p.Q755*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1673701	c.10768A>C	p.I3590L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3304221	c.4592C>T	p.A1531V	Substitution - Missense	Stomach
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Soft_tissue
COSM1087594	c.5790A>G	p.S1930S	Substitution - coding silent	Endometrium
COSM1180098	c.1005T>A	p.P335P	Substitution - coding silent	Large_intestine
COSM1449420	c.8390_8391insA	p.E2798fs*11	Insertion - Frameshift	Large_intestine
COSM4162018	c.2315C>T	p.S772L	Substitution - Missense	Skin
COSM5421902	c.9319A>G	p.I3107V	Substitution - Missense	Prostate
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Soft_tissue
COSM745857	c.4430A>G	p.N1477S	Substitution - Missense	Lung
COSM4162012	c.2556A>T	p.T852T	Substitution - coding silent	Thyroid
COSM5014772	c.5318T>C	p.L1773P	Substitution - Missense	Kidney
COSM3879496	c.14552G>A	p.C4851Y	Substitution - Missense	Stomach
COSM5482107	c.13249G>T	p.A4417S	Substitution - Missense	Large_intestine
COSM3262542	c.11170G>A	p.E3724K	Substitution - Missense	Breast
COSM3304177	c.5971delT	p.S1991fs*9	Deletion - Frameshift	Large_intestine
COSM3304197	c.5071G>A	p.A1691T	Substitution - Missense	Stomach
COSM5492337	c.14073C>T	p.Y4691Y	Substitution - coding silent	Biliary_tract
COSM5796140	c.3882G>A	p.G1294G	Substitution - coding silent	Breast
COSM3636561	c.742A>T	p.T248S	Substitution - Missense	Skin
COSM4451003	c.10149A>G	p.V3383V	Substitution - coding silent	Skin
COSM3733336	c.2263C>T	p.Q755*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM225883	c.2968A>G	p.S990G	Substitution - Missense	Central_nervous_system
COSM1180098	c.1005T>A	p.P335P	Substitution - coding silent	Soft_tissue
COSM1581236	c.10199G>A	p.R3400H	Substitution - Missense	Prostate
COSM4591270	c.2512G>A	p.G838S	Substitution - Missense	Upper_aerodigestive_tract
COSM162502	c.7442+1G>A	p.?	Unknown	Breast
COSM1329942	c.3613A>T	p.K1205*	Substitution - Nonsense	Ovary
COSM1179107	c.851G>A	p.R284Q	Substitution - Missense	Upper_aerodigestive_tract
COSM1721289	c.14344-3delT	p.?	Unknown	Biliary_tract
COSM1622596	c.10726A>G	p.I3576V	Substitution - Missense	Liver
COSM1161669	c.6283A>G	p.S2095G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1179669	c.943G>A	p.G315S	Substitution - Missense	Soft_tissue
COSM4162010	c.2573G>T	p.W858L	Substitution - Missense	Large_intestine
COSM5581671	c.9100C>T	p.P3034S	Substitution - Missense	Skin
COSM4605565	c.5353C>T	p.Q1785*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM4398963	c.13614C>T	p.I4538I	Substitution - coding silent	Skin
COSM3304175	c.6149C>T	p.P2050L	Substitution - Missense	Large_intestine
COSM5621268	c.2773T>C	p.S925P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5752484	c.5682_5691del10	p.D1896fs*40	Deletion - Frameshift	Breast
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Upper_aerodigestive_tract
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Upper_aerodigestive_tract
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Central_nervous_system
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Soft_tissue
COSM5816426	c.10860G>T	p.K3620N	Substitution - Missense	Liver
COSM745851	c.3281A>G	p.Y1094C	Substitution - Missense	Lung
COSM85093	c.7016A>T	p.N2339I	Substitution - Missense	Pancreas
COSM1087631	c.3291_3293delAGA	p.E1097delE	Deletion - In frame	Endometrium
COSM5467079	c.8444A>C	p.K2815T	Substitution - Missense	Large_intestine
COSM1449394	c.11094G>A	p.T3698T	Substitution - coding silent	Large_intestine
COSM1635198	c.2185A>G	p.N729D	Substitution - Missense	Upper_aerodigestive_tract
COSM4587277	c.1017G>C	p.K339N	Substitution - Missense	Upper_aerodigestive_tract
COSM4587277	c.1017G>C	p.K339N	Substitution - Missense	Upper_aerodigestive_tract
COSM3304542	c.1181G>A	p.C394Y	Substitution - Missense	Oesophagus
COSM3396810	c.2072C>G	p.S691C	Substitution - Missense	Breast
COSM3879596	c.2604T>G	p.I868M	Substitution - Missense	Stomach
COSM1488391	c.10181G>A	p.S3394N	Substitution - Missense	Breast
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Soft_tissue
COSM227525	c.2294A>G	p.E765G	Substitution - Missense	Skin
COSM1582712	c.13054T>G	p.W4352G	Substitution - Missense	Stomach
COSM3879592	c.2841T>C	p.F947F	Substitution - coding silent	Stomach
COSM4384338	c.4817C>T	p.P1606L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM230133	c.1173C>A	p.C391*	Substitution - Nonsense	Thyroid
COSM150428	c.2958A>G	p.P986P	Substitution - coding silent	Central_nervous_system
COSM3304640	c.962G>A	p.S321N	Substitution - Missense	Large_intestine
COSM5571149	c.8852T>G	p.V2951G	Substitution - Missense	Prostate
COSM1721289	c.14344-3delT	p.?	Unknown	Skin
COSM1727281	c.9472C>T	p.Q3158*	Substitution - Nonsense	Liver
COSM150424	c.5068A>C	p.R1690R	Substitution - coding silent	Soft_tissue
COSM1673699	c.11708C>T	p.S3903F	Substitution - Missense	Large_intestine
COSM5479713	c.675G>A	p.W225*	Substitution - Nonsense	Large_intestine
COSM100082	c.8390_8390delA	p.K2797fs*26	Deletion - Frameshift	Large_intestine
COSM328978	c.8390delA	p.K2797fs*26	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1087659	c.947C>G	p.T316S	Substitution - Missense	Prostate
COSM1449480	c.1041C>T	p.C347C	Substitution - coding silent	Large_intestine
COSM4768617	c.1038G>A	p.V346V	Substitution - coding silent	Thyroid
COSM3358583	c.14345_14346delGG	p.G4782fs*10	Deletion - Frameshift	Kidney
COSM88485	c.6851C>A	p.S2284*	Substitution - Nonsense	Ovary
COSM216049	c.12796_12797insA	p.S4267fs*48	Insertion - Frameshift	Central_nervous_system
COSM4432792	c.9897G>T	p.M3299I	Substitution - Missense	Oesophagus
COSM1179107	c.851G>A	p.R284Q	Substitution - Missense	Soft_tissue
COSM3636487	c.8457C>T	p.T2819T	Substitution - coding silent	Skin
COSM5752196	c.761delG	p.R254fs*7	Deletion - Frameshift	Breast
COSM4954173	c.12888A>C	p.P4296P	Substitution - coding silent	Liver
COSM3636471	c.11658C>T	p.T3886T	Substitution - coding silent	Skin
COSM1312875	c.5140G>C	p.D1714H	Substitution - Missense	Urinary_tract
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Central_nervous_system
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Thyroid
COSM3735899	c.361G>A	p.V121I	Substitution - Missense	Skin
COSM5561655	c.4603C>A	p.P1535T	Substitution - Missense	Prostate
COSM4649785	c.14719C>T	p.R4907W	Substitution - Missense	Large_intestine
COSM4996814	c.8821C>A	p.P2941T	Substitution - Missense	Upper_aerodigestive_tract
COSM206268	c.3639C>T	p.S1213S	Substitution - coding silent	Stomach
COSM328978	c.8390delA	p.K2797fs*26	Deletion - Frameshift	Stomach
COSM289942	c.2447_2448insA	p.Y816fs*1	Insertion - Frameshift	Central_nervous_system
COSM5907450	c.2956C>T	p.P986S	Substitution - Missense	Skin
COSM3879604	c.1164C>T	p.C388C	Substitution - coding silent	Stomach
COSM4162014	c.2534G>A	p.G845E	Substitution - Missense	Upper_aerodigestive_tract
COSM4381931	c.943G>T	p.G315C	Substitution - Missense	Oesophagus
COSM4591270	c.2512G>A	p.G838S	Substitution - Missense	Upper_aerodigestive_tract
COSM5997454	c.658C>G	p.Q220E	Substitution - Missense	Prostate
COSM230133	c.1173C>A	p.C391*	Substitution - Nonsense	Central_nervous_system
COSM1131643	c.2683A>T	p.R895*	Substitution - Nonsense	Prostate
COSM5428091	c.6832C>T	p.P2278S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM452734	c.1918G>T	p.E640*	Substitution - Nonsense	Breast
COSM4384328	c.6910A>G	p.M2304V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4984043	c.6074C>A	p.S2025*	Substitution - Nonsense	Oesophagus
COSM5977714	c.6604C>A	p.P2202T	Substitution - Missense	Central_nervous_system
COSM1496555	c.11026C>G	p.L3676V	Substitution - Missense	Kidney
COSM100082	c.8390_8390delA	p.K2797fs*26	Deletion - Frameshift	Large_intestine
COSM3304336	c.2908G>A	p.A970T	Substitution - Missense	Skin
COSM4834910	c.7013C>T	p.S2338L	Substitution - Missense	Cervix
COSM3636481	c.9479C>T	p.S3160F	Substitution - Missense	Skin
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Central_nervous_system
COSM452720	c.3512C>G	p.T1171S	Substitution - Missense	Breast
COSM1087578	c.7278G>T	p.E2426D	Substitution - Missense	Endometrium
COSM4162014	c.2534G>A	p.G845E	Substitution - Missense	Upper_aerodigestive_tract
COSM4171652	c.350C>G	p.A117G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4384340	c.4630C>T	p.P1544S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5977656	c.14621G>A	p.R4874Q	Substitution - Missense	Central_nervous_system
COSM4603590	c.2448_2449insA	p.I817fs*11	Insertion - Frameshift	Upper_aerodigestive_tract
COSM216777	c.5065G>T	p.E1689*	Substitution - Nonsense	Pancreas
COSM289942	c.2447_2448insA	p.Y816fs*1	Insertion - Frameshift	Large_intestine
COSM3879549	c.9202C>T	p.Q3068*	Substitution - Nonsense	Stomach
COSM1449422	c.8389_8390delAA	p.K2797fs*11	Deletion - Frameshift	Stomach
COSM225885	c.1139G>T	p.R380L	Substitution - Missense	Soft_tissue
COSM312888	c.12138A>T	p.K4046N	Substitution - Missense	Lung
COSM1161667	c.6317A>T	p.N2106I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1581236	c.10199G>A	p.R3400H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3636553	c.948C>T	p.T316T	Substitution - coding silent	Skin
COSM4384334	c.5065delG	p.E1689fs*28	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM86082	c.2418C>G	p.S806S	Substitution - coding silent	Soft_tissue
COSM230133	c.1173C>A	p.C391*	Substitution - Nonsense	Central_nervous_system
COSM230133	c.1173C>A	p.C391*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5752239	c.7478delC	p.P2493fs*22	Deletion - Frameshift	Breast
COSM1163651	c.11040delA	p.E3681fs*24	Deletion - Frameshift	Pancreas
COSM5407033	c.14436G>A	p.R4812R	Substitution - coding silent	Skin
COSM3762512	c.8685G>A	p.Q2895Q	Substitution - coding silent	Large_intestine
COSM1179669	c.943G>A	p.G315S	Substitution - Missense	Liver
COSM1087657	c.956A>T	p.D319V	Substitution - Missense	Endometrium
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Upper_aerodigestive_tract
COSM85098	c.4441C>T	p.R1481*	Substitution - Nonsense	Pancreas
COSM396785	c.2674G>A	p.G892R	Substitution - Missense	Skin
COSM4806514	c.60G>A	p.E20E	Substitution - coding silent	Liver
COSM249560	c.5053G>T	p.A1685S	Substitution - Missense	Prostate
COSM4481440	c.2509C>T	p.P837S	Substitution - Missense	Skin
COSM126806	c.12835C>T	p.Q4279*	Substitution - Nonsense	Breast
COSM4896599	c.2376T>C	p.P792P	Substitution - coding silent	Skin
COSM3304106	c.7959A>G	p.L2653L	Substitution - coding silent	Large_intestine
COSM4999059	c.2246T>G	p.V749G	Substitution - Missense	Pancreas
COSM5752887	c.1361_1362insT	p.I455fs*3	Insertion - Frameshift	Breast
COSM225885	c.1139G>T	p.R380L	Substitution - Missense	Soft_tissue
COSM397340	c.1240C>T	p.H414Y	Substitution - Missense	Lung
COSM225883	c.2968A>G	p.S990G	Substitution - Missense	Soft_tissue
COSM230133	c.1173C>A	p.C391*	Substitution - Nonsense	Soft_tissue
COSM5426313	c.2613C>T	p.P871P	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM289942	c.2447_2448insA	p.Y816fs*1	Insertion - Frameshift	Skin
COSM4384362	c.671T>C	p.L224P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1180098	c.1005T>A	p.P335P	Substitution - coding silent	Soft_tissue
COSM1180098	c.1005T>A	p.P335P	Substitution - coding silent	Soft_tissue
COSM1161673	c.6263A>T	p.N2088I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4992936	c.6294C>T	p.P2098P	Substitution - coding silent	Skin
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Soft_tissue
COSM249560	c.5053G>T	p.A1685S	Substitution - Missense	Thyroid
COSM1635196	c.2304A>G	p.S768S	Substitution - coding silent	Liver
COSM4162024	c.946A>T	p.T316S	Substitution - Missense	Upper_aerodigestive_tract
COSM1184392	c.4188A>C	p.K1396N	Substitution - Missense	Large_intestine
COSM485095	c.3309T>A	p.C1103*	Substitution - Nonsense	Central_nervous_system
COSM1184378	c.13013T>C	p.V4338A	Substitution - Missense	Large_intestine
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Upper_aerodigestive_tract
COSM225885	c.1139G>T	p.R380L	Substitution - Missense	Soft_tissue
COSM3832372	c.2742T>G	p.S914R	Substitution - Missense	Breast
COSM5009123	c.7197G>T	p.K2399N	Substitution - Missense	Large_intestine
COSM1087659	c.947C>G	p.T316S	Substitution - Missense	Prostate
COSM116504	c.5429T>G	p.L1810W	Substitution - Missense	Ovary
COSM1581232	c.11374C>A	p.Q3792K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4591270	c.2512G>A	p.G838S	Substitution - Missense	Upper_aerodigestive_tract
COSM5576020	c.10565T>A	p.I3522N	Substitution - Missense	Stomach
COSM1581248	c.6275A>T	p.D2092V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5991626	c.?	p.I155T	Substitution - Missense	Large_intestine
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Soft_tissue
COSM3304125	c.7566G>C	p.M2522I	Substitution - Missense	Large_intestine
COSM4161998	c.2726G>A	p.R909K	Substitution - Missense	Skin
COSM4591270	c.2512G>A	p.G838S	Substitution - Missense	Upper_aerodigestive_tract
COSM4455787	c.897A>G	p.E299E	Substitution - coding silent	Skin
COSM4482243	c.2588C>G	p.S863*	Substitution - Nonsense	Skin
COSM3304394	c.2705C>T	p.S902L	Substitution - Missense	Large_intestine
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Large_intestine
COSM4430782	c.6613C>T	p.H2205Y	Substitution - Missense	Oesophagus
COSM1488417	c.289G>C	p.E97Q	Substitution - Missense	Breast
COSM4606482	c.2459C>T	p.T820I	Substitution - Missense	Liver
COSM235680	c.10362C>A	p.Y3454*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM331547	c.1101T>C	p.H367H	Substitution - coding silent	Stomach
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Upper_aerodigestive_tract
COSM452728	c.2379G>A	p.S793S	Substitution - coding silent	Central_nervous_system
COSM4591023	c.871C>T	p.L291F	Substitution - Missense	Upper_aerodigestive_tract
COSM1449480	c.1041C>T	p.C347C	Substitution - coding silent	Prostate
COSM1180098	c.1005T>A	p.P335P	Substitution - coding silent	Soft_tissue
COSM1622594	c.11722C>A	p.P3908T	Substitution - Missense	Liver
COSM4162020	c.2189C>A	p.S730Y	Substitution - Missense	Upper_aerodigestive_tract
COSM4591270	c.2512G>A	p.G838S	Substitution - Missense	Upper_aerodigestive_tract
COSM5020752	c.10979C>T	p.S3660L	Substitution - Missense	Soft_tissue
COSM5048940	c.13945G>C	p.E4649Q	Substitution - Missense	Oesophagus
COSM249560	c.5053G>T	p.A1685S	Substitution - Missense	Oesophagus
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Soft_tissue
COSM4162024	c.946A>T	p.T316S	Substitution - Missense	Upper_aerodigestive_tract
COSM485095	c.3309T>A	p.C1103*	Substitution - Nonsense	Kidney
COSM28365	c.4549G>A	p.G1517R	Substitution - Missense	Urinary_tract
COSM3733336	c.2263C>T	p.Q755*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Central_nervous_system
COSM452728	c.2379G>A	p.S793S	Substitution - coding silent	Central_nervous_system
COSM1184394	c.3875G>A	p.R1292Q	Substitution - Missense	Large_intestine
COSM4591023	c.871C>T	p.L291F	Substitution - Missense	Upper_aerodigestive_tract
COSM4432794	c.9786T>G	p.I3262M	Substitution - Missense	Oesophagus
COSM228110	c.1042G>A	p.D348N	Substitution - Missense	Soft_tissue
COSM4162020	c.2189C>A	p.S730Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4164206	c.11184C>T	p.C3728C	Substitution - coding silent	Ovary
COSM4974444	c.7933G>A	p.V2645I	Substitution - Missense	Oesophagus
COSM86082	c.2418C>G	p.S806S	Substitution - coding silent	Central_nervous_system
COSM4767577	c.590+9T>A	p.?	Unknown	Biliary_tract
COSM4162008	c.2578C>T	p.P860S	Substitution - Missense	Thyroid
COSM4452988	c.2386A>C	p.M796L	Substitution - Missense	Skin
COSM4481440	c.2509C>T	p.P837S	Substitution - Missense	Skin
COSM4605586	c.5430G>T	p.L1810F	Substitution - Missense	Upper_aerodigestive_tract
COSM1673701	c.10768A>C	p.I3590L	Substitution - Missense	Breast
COSM3923196	c.7394C>T	p.P2465L	Substitution - Missense	Skin
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Skin
COSM4568705	c.12829T>A	p.F4277I	Substitution - Missense	Skin
COSM5428967	c.237G>T	p.T79T	Substitution - coding silent	Oesophagus
COSM5835362	c.6988_6989insTT	p.S2330fs*36	Insertion - Frameshift	Breast
COSM4635494	c.5636C>T	p.P1879L	Substitution - Missense	Large_intestine
COSM3832340	c.9790G>A	p.D3264N	Substitution - Missense	Breast
COSM1312891	c.1600G>T	p.E534*	Substitution - Nonsense	Urinary_tract
COSM100082	c.8390_8390delA	p.K2797fs*26	Deletion - Frameshift	Large_intestine
COSM5912634	c.3239C>T	p.P1080L	Substitution - Missense	Skin
COSM1673701	c.10768A>C	p.I3590L	Substitution - Missense	Breast
COSM3698286	c.7163G>A	p.R2388H	Substitution - Missense	Large_intestine
COSM3636459	c.12954C>T	p.V4318V	Substitution - coding silent	Skin
COSM3304434	c.2523G>A	p.R841R	Substitution - coding silent	Prostate
COSM3879523	c.11511G>A	p.L3837L	Substitution - coding silent	Stomach
COSM5009129	c.4333C>A	p.L1445I	Substitution - Missense	Large_intestine
COSM4824194	c.6481C>T	p.Q2161*	Substitution - Nonsense	Cervix
COSM4591023	c.871C>T	p.L291F	Substitution - Missense	Upper_aerodigestive_tract
COSM3942128	c.251-2A>T	p.?	Unknown	Oesophagus
COSM4162014	c.2534G>A	p.G845E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5490665	c.10216G>A	p.E3406K	Substitution - Missense	Biliary_tract
COSM1488411	c.583C>T	p.Q195*	Substitution - Nonsense	Breast
COSM1449452	c.3296T>G	p.L1099R	Substitution - Missense	Large_intestine
COSM150428	c.2958A>G	p.P986P	Substitution - coding silent	Soft_tissue
COSM150428	c.2958A>G	p.P986P	Substitution - coding silent	Soft_tissue
COSM4161996	c.2763A>G	p.L921L	Substitution - coding silent	Thyroid
COSM5835358	c.12740_12743delCATC	p.S4247fs*1	Deletion - Frameshift	Breast
COSM3733336	c.2263C>T	p.Q755*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM308082	c.12149C>A	p.S4050*	Substitution - Nonsense	Biliary_tract
COSM4162018	c.2315C>T	p.S772L	Substitution - Missense	Upper_aerodigestive_tract
COSM230133	c.1173C>A	p.C391*	Substitution - Nonsense	Soft_tissue
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Upper_aerodigestive_tract
COSM4943274	c.13132G>A	p.E4378K	Substitution - Missense	Breast
COSM4954173	c.12888A>C	p.P4296P	Substitution - coding silent	Liver
COSM452698	c.9317G>A	p.G3106D	Substitution - Missense	Breast
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Soft_tissue
COSM3262395	c.14181C>T	p.H4727H	Substitution - coding silent	Large_intestine
COSM4606013	c.8535T>A	p.N2845K	Substitution - Missense	Upper_aerodigestive_tract
COSM4702486	c.11125A>G	p.M3709V	Substitution - Missense	Large_intestine
COSM4590380	c.7443A>T	p.R2481S	Substitution - Missense	Upper_aerodigestive_tract
COSM150428	c.2958A>G	p.P986P	Substitution - coding silent	Soft_tissue
COSM150424	c.5068A>C	p.R1690R	Substitution - coding silent	Soft_tissue
COSM1131647	c.2755G>C	p.V919L	Substitution - Missense	Central_nervous_system
COSM383536	c.7615C>T	p.Q2539*	Substitution - Nonsense	Cervix
COSM85091	c.13071G>A	p.W4357*	Substitution - Nonsense	Pancreas
COSM1673699	c.11708C>T	p.S3903F	Substitution - Missense	Skin
COSM3879547	c.9351C>T	p.G3117G	Substitution - coding silent	Stomach
COSM4164208	c.11091G>T	p.Q3697H	Substitution - Missense	Ovary
COSM4384352	c.2214C>G	p.D738E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3636497	c.6827C>T	p.P2276L	Substitution - Missense	Skin
COSM230133	c.1173C>A	p.C391*	Substitution - Nonsense	Skin
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Thyroid
COSM421524	c.340G>A	p.E114K	Substitution - Missense	Urinary_tract
COSM4161998	c.2726G>A	p.R909K	Substitution - Missense	Upper_aerodigestive_tract
COSM4806961	c.6130A>T	p.K2044*	Substitution - Nonsense	Pancreas
COSM86082	c.2418C>G	p.S806S	Substitution - coding silent	Soft_tissue
COSM5009133	c.1859C>A	p.S620Y	Substitution - Missense	Large_intestine
COSM1179107	c.851G>A	p.R284Q	Substitution - Missense	Biliary_tract
COSM1179669	c.943G>A	p.G315S	Substitution - Missense	Ovary
COSM227050	c.8512G>T	p.E2838*	Substitution - Nonsense	Skin
COSM1087670	c.499C>G	p.P167A	Substitution - Missense	Endometrium
COSM4162018	c.2315C>T	p.S772L	Substitution - Missense	Upper_aerodigestive_tract
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4162024	c.946A>T	p.T316S	Substitution - Missense	Upper_aerodigestive_tract
COSM5783372	c.1252C>G	p.L418V	Substitution - Missense	Breast
COSM3733336	c.2263C>T	p.Q755*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1087663	c.929G>C	p.C310S	Substitution - Missense	Endometrium
COSM3304725	c.427delA	p.S143fs*3	Deletion - Frameshift	Large_intestine
COSM3879517	c.11790C>T	p.A3930A	Substitution - coding silent	Large_intestine
COSM4384304	c.13336G>A	p.A4446T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5472381	c.7915G>A	p.V2639I	Substitution - Missense	Large_intestine
COSM4590380	c.7443A>T	p.R2481S	Substitution - Missense	Upper_aerodigestive_tract
COSM4162002	c.2656C>T	p.R886C	Substitution - Missense	Oesophagus
COSM4164210	c.8252C>T	p.S2751L	Substitution - Missense	Ovary
COSM4333155	c.11812G>A	p.V3938I	Substitution - Missense	Biliary_tract
COSM3733336	c.2263C>T	p.Q755*	Substitution - Nonsense	Biliary_tract
COSM5019620	c.1179C>T	p.N393N	Substitution - coding silent	Soft_tissue
COSM225885	c.1139G>T	p.R380L	Substitution - Missense	Pancreas
COSM276080	c.10369G>A	p.D3457N	Substitution - Missense	Large_intestine
COSM228110	c.1042G>A	p.D348N	Substitution - Missense	Large_intestine
COSM124458	c.121C>T	p.R41C	Substitution - Missense	Upper_aerodigestive_tract
COSM225883	c.2968A>G	p.S990G	Substitution - Missense	Soft_tissue
COSM227525	c.2294A>G	p.E765G	Substitution - Missense	Stomach
COSM255261	c.10213C>T	p.R3405*	Substitution - Nonsense	Central_nervous_system
COSM1180098	c.1005T>A	p.P335P	Substitution - coding silent	Soft_tissue
COSM4162004	c.2646C>A	p.I882I	Substitution - coding silent	Thyroid
COSM86082	c.2418C>G	p.S806S	Substitution - coding silent	Skin
COSM1449392	c.11143delA	p.T3715fs*4	Deletion - Frameshift	Large_intestine
COSM1673710	c.5854T>G	p.L1952V	Substitution - Missense	Large_intestine
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1581246	c.6965T>C	p.V2322A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5694860	c.28G>A	p.E10K	Substitution - Missense	Soft_tissue
COSM1087674	c.167G>A	p.R56Q	Substitution - Missense	Endometrium
COSM4591023	c.871C>T	p.L291F	Substitution - Missense	Upper_aerodigestive_tract
COSM1087619	c.3761G>A	p.R1254Q	Substitution - Missense	Endometrium
COSM5806564	c.12432C>G	p.L4144L	Substitution - coding silent	Liver
COSM1312865	c.9750+1G>A	p.?	Unknown	Urinary_tract
COSM4004383	c.9235C>T	p.R3079*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5615812	c.1213G>T	p.V405L	Substitution - Missense	Lung
COSM4587277	c.1017G>C	p.K339N	Substitution - Missense	Bone
COSM3304562	c.1150C>T	p.Q384*	Substitution - Nonsense	Stomach
COSM745893	c.12063G>T	p.L4021L	Substitution - coding silent	Lung
COSM4384348	c.2407G>C	p.A803P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1166702	c.13432C>T	p.R4478*	Substitution - Nonsense	Pancreas
COSM3685115	c.11665A>C	p.K3889Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1755183	c.10647G>T	p.V3549V	Substitution - coding silent	Urinary_tract
COSM4992934	c.6323C>T	p.S2108F	Substitution - Missense	Skin
COSM452738	c.1859_1860insA	p.N621fs*1	Insertion - Frameshift	Breast
COSM3636543	c.1003C>T	p.P335S	Substitution - Missense	Skin
COSM3662778	c.2491A>G	p.T831A	Substitution - Missense	Liver
COSM6008979	c.10913C>G	p.S3638*	Substitution - Nonsense	Large_intestine
COSM86082	c.2418C>G	p.S806S	Substitution - coding silent	Soft_tissue
COSM4603590	c.2448_2449insA	p.I817fs*11	Insertion - Frameshift	Upper_aerodigestive_tract
COSM308280	c.9934C>T	p.Q3312*	Substitution - Nonsense	Breast
COSM452722	c.3358G>T	p.E1120*	Substitution - Nonsense	Breast
COSM3879512	c.13298C>T	p.A4433V	Substitution - Missense	Stomach
COSM289942	c.2447_2448insA	p.Y816fs*1	Insertion - Frameshift	Large_intestine
COSM1449428	c.6840A>G	p.G2280G	Substitution - coding silent	Large_intestine
COSM1179107	c.851G>A	p.R284Q	Substitution - Missense	Central_nervous_system
COSM335727	c.1163G>A	p.C388Y	Substitution - Missense	Lung
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Central_nervous_system
COSM1087505	c.14210C>A	p.S4737*	Substitution - Nonsense	Endometrium
COSM4162014	c.2534G>A	p.G845E	Substitution - Missense	Liver
COSM5752179	c.2678delA	p.K893fs*20	Deletion - Frameshift	Breast
COSM230133	c.1173C>A	p.C391*	Substitution - Nonsense	Soft_tissue
COSM254822	c.13400A>T	p.K4467M	Substitution - Missense	Urinary_tract
COSM3414005	c.6078T>A	p.Y2026*	Substitution - Nonsense	Oesophagus
COSM353509	c.2890_2891GG>TA	p.G964>?	Complex	Lung
COSM485077	c.10814A>T	p.K3605I	Substitution - Missense	Kidney
COSM3636523	c.2902C>T	p.Q968*	Substitution - Nonsense	Skin
COSM150428	c.2958A>G	p.P986P	Substitution - coding silent	Soft_tissue
COSM4384324	c.8018A>G	p.D2673G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5629622	c.8982T>C	p.I2994I	Substitution - coding silent	Oesophagus
COSM452704	c.6439C>T	p.Q2147*	Substitution - Nonsense	Skin
COSM5753196	c.9697C>T	p.Q3233*	Substitution - Nonsense	Pancreas
COSM228110	c.1042G>A	p.D348N	Substitution - Missense	Soft_tissue
COSM227525	c.2294A>G	p.E765G	Substitution - Missense	Upper_aerodigestive_tract
COSM5017289	c.11099delC	p.A3700fs*5	Deletion - Frameshift	Kidney
COSM5985262	c.13751G>A	p.R4584Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1735695	c.?	p.P1542S	Substitution - Missense	Skin
COSM5415245	c.13784G>A	p.R4595H	Substitution - Missense	Endometrium
COSM150428	c.2958A>G	p.P986P	Substitution - coding silent	Soft_tissue
COSM308286	c.13580T>C	p.V4527A	Substitution - Missense	Biliary_tract
COSM1673703	c.10628G>A	p.S3543N	Substitution - Missense	Large_intestine
COSM100082	c.8390_8390delA	p.K2797fs*26	Deletion - Frameshift	Large_intestine
COSM4603966	c.162-7_162-6insT	p.?	Unknown	Upper_aerodigestive_tract
COSM4837779	c.12340G>A	p.E4114K	Substitution - Missense	Cervix
COSM3923204	c.2905G>A	p.G969R	Substitution - Missense	Skin
COSM3636465	c.12149C>T	p.S4050L	Substitution - Missense	Skin
COSM4841952	c.5623C>T	p.Q1875*	Substitution - Nonsense	Cervix
COSM254820	c.9034C>T	p.Q3012*	Substitution - Nonsense	Urinary_tract
COSM1137664	c.9943C>T	p.Q3315*	Substitution - Nonsense	Kidney
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Upper_aerodigestive_tract
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Liver
COSM5563555	c.9048A>G	p.Q3016Q	Substitution - coding silent	Prostate
COSM5047850	c.4439C>G	p.S1480*	Substitution - Nonsense	Oesophagus
COSM5796111	c.3315A>G	p.Q1105Q	Substitution - coding silent	Breast
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Central_nervous_system
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Upper_aerodigestive_tract
COSM4702476	c.13337C>T	p.A4446V	Substitution - Missense	Large_intestine
COSM5997452	c.3573A>G	p.T1191T	Substitution - coding silent	Prostate
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM255059	c.4019delG	p.S1340fs*5	Deletion - Frameshift	Urinary_tract
COSM4818060	c.2218G>A	p.E740K	Substitution - Missense	Cervix
COSM33306	c.5716C>T	p.R1906*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM226617	c.3401G>A	p.S1134N	Substitution - Missense	Central_nervous_system
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Soft_tissue
COSM1731622	c.8266A>G	p.I2756V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM86082	c.2418C>G	p.S806S	Substitution - coding silent	Large_intestine
COSM249560	c.5053G>T	p.A1685S	Substitution - Missense	Central_nervous_system
COSM4450268	c.5111delT	p.L1704fs*13	Deletion - Frameshift	Skin
COSM4438859	c.8302G>C	p.D2768H	Substitution - Missense	Oesophagus
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Soft_tissue
COSM485087	c.7043A>G	p.Q2348R	Substitution - Missense	Kidney
COSM228110	c.1042G>A	p.D348N	Substitution - Missense	Soft_tissue
COSM228110	c.1042G>A	p.D348N	Substitution - Missense	Pancreas
COSM5710466	c.1139G>C	p.R380P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3411825	c.7099A>G	p.T2367A	Substitution - Missense	Central_nervous_system
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Upper_aerodigestive_tract
COSM4162006	c.2645T>C	p.I882T	Substitution - Missense	Thyroid
COSM4386116	c.929G>T	p.C310F	Substitution - Missense	Liver
COSM5019722	c.850-7C>T	p.?	Unknown	Soft_tissue
COSM5941289	c.2291C>T	p.S764F	Substitution - Missense	Thyroid
COSM5575863	c.13602G>C	p.Q4534H	Substitution - Missense	Stomach
COSM745879	c.7903C>T	p.Q2635*	Substitution - Nonsense	Lung
COSM1181044	c.13488delT	p.F4496fs*21	Deletion - Frameshift	Large_intestine
COSM3733336	c.2263C>T	p.Q755*	Substitution - Nonsense	Thyroid
COSM3923208	c.2093C>T	p.T698I	Substitution - Missense	Skin
COSM452744	c.432delC	p.L145fs*1	Deletion - Frameshift	Breast
COSM81422	c.12165C>T	p.I4055I	Substitution - coding silent	Ovary
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Central_nervous_system
COSM166117	c.11093_11094insATAC	p.A3700fs*26	Insertion - Frameshift	Breast
COSM254816	c.5287C>T	p.Q1763*	Substitution - Nonsense	Urinary_tract
COSM1449460	c.2182G>T	p.E728*	Substitution - Nonsense	Biliary_tract
COSM3879498	c.14483G>A	p.R4828H	Substitution - Missense	Stomach
COSM3879571	c.6515A>G	p.D2172G	Substitution - Missense	Stomach
COSM4162018	c.2315C>T	p.S772L	Substitution - Missense	Thyroid
COSM5025146	c.14048C>A	p.A4683E	Substitution - Missense	Eye
COSM5985270	c.6121G>A	p.G2041R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Soft_tissue
COSM5008272	c.8045C>A	p.S2682Y	Substitution - Missense	Large_intestine
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Upper_aerodigestive_tract
COSM225885	c.1139G>T	p.R380L	Substitution - Missense	Soft_tissue
COSM228110	c.1042G>A	p.D348N	Substitution - Missense	Large_intestine
COSM4768617	c.1038G>A	p.V346V	Substitution - coding silent	Thyroid
COSM3879551	c.8930C>A	p.S2977Y	Substitution - Missense	Stomach
COSM1241437	c.11570C>T	p.T3857M	Substitution - Missense	Large_intestine
COSM1665597	c.9525delA	p.Q3176fs*73	Deletion - Frameshift	Kidney
COSM3928928	c.14141A>C	p.K4714T	Substitution - Missense	Central_nervous_system
COSM4162004	c.2646C>A	p.I882I	Substitution - coding silent	Thyroid
COSM4591270	c.2512G>A	p.G838S	Substitution - Missense	Upper_aerodigestive_tract
COSM4992940	c.5216C>T	p.P1739L	Substitution - Missense	Skin
COSM4996816	c.3956A>G	p.D1319G	Substitution - Missense	Upper_aerodigestive_tract
COSM4702478	c.12570C>T	p.S4190S	Substitution - coding silent	Large_intestine
COSM328978	c.8390delA	p.K2797fs*26	Deletion - Frameshift	Stomach
COSM1719512	c.7612_7613CC>TT	p.P2538F	Substitution - Missense	Skin
COSM745891	c.10558C>T	p.P3520S	Substitution - Missense	Lung
COSM1087607	c.4727C>A	p.S1576Y	Substitution - Missense	Endometrium
COSM4162012	c.2556A>T	p.T852T	Substitution - coding silent	Large_intestine
COSM1087576	c.7361G>A	p.R2454K	Substitution - Missense	Endometrium
COSM1673718	c.491G>A	p.R164K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3394630	c.3046G>A	p.A1016T	Substitution - Missense	Pancreas
COSM85096	c.6005G>A	p.G2002E	Substitution - Missense	Pancreas
COSM98327	c.8204T>C	p.L2735S	Substitution - Missense	Upper_aerodigestive_tract
COSM1622602	c.1622-6G>C	p.?	Unknown	Liver
COSM1662791	c.6710C>T	p.S2237L	Substitution - Missense	Kidney
COSM3262395	c.14181C>T	p.H4727H	Substitution - coding silent	Large_intestine
COSM3879517	c.11790C>T	p.A3930A	Substitution - coding silent	Large_intestine
COSM4806514	c.60G>A	p.E20E	Substitution - coding silent	Liver
COSM5455566	c.1702G>A	p.G568S	Substitution - Missense	Large_intestine
COSM5752179	c.2678delA	p.K893fs*20	Deletion - Frameshift	Breast
COSM4162008	c.2578C>T	p.P860S	Substitution - Missense	Large_intestine
COSM4162024	c.946A>T	p.T316S	Substitution - Missense	Upper_aerodigestive_tract
COSM226617	c.3401G>A	p.S1134N	Substitution - Missense	Skin
COSM4702508	c.5082+2T>C	p.?	Unknown	Large_intestine
COSM5016208	c.1931_1932delAA	p.E644fs*2	Deletion - Frameshift	Kidney
COSM3675546	c.1099C>G	p.H367D	Substitution - Missense	Breast
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Urinary_tract
COSM4798577	c.1332G>A	p.R444R	Substitution - coding silent	Liver
COSM254824	c.12221G>T	p.G4074V	Substitution - Missense	Urinary_tract
COSM452712	c.5079_5080insT	p.V1694fs*7	Insertion - Frameshift	Breast
COSM3636519	c.3646G>A	p.V1216I	Substitution - Missense	Skin
COSM4604065	c.11133C>T	p.T3711T	Substitution - coding silent	Upper_aerodigestive_tract
COSM4992932	c.7913C>T	p.S2638F	Substitution - Missense	Skin
COSM5710458	c.14465G>A	p.R4822H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3698037	c.1744G>A	p.V582I	Substitution - Missense	Large_intestine
COSM4983192	c.12595T>C	p.C4199R	Substitution - Missense	Oesophagus
COSM240698	c.5227_5228insG	p.E1744fs*5	Insertion - Frameshift	Prostate
COSM3733336	c.2263C>T	p.Q755*	Substitution - Nonsense	Oesophagus
COSM1087527	c.12632G>A	p.R4211Q	Substitution - Missense	Endometrium
COSM1727372	c.1596A>C	p.E532D	Substitution - Missense	Liver
COSM3832364	c.5155C>T	p.Q1719*	Substitution - Nonsense	Breast
COSM4596458	c.2065A>G	p.M689V	Substitution - Missense	Upper_aerodigestive_tract
COSM4591270	c.2512G>A	p.G838S	Substitution - Missense	Upper_aerodigestive_tract
COSM1635198	c.2185A>G	p.N729D	Substitution - Missense	Upper_aerodigestive_tract
COSM745823	c.817G>T	p.V273L	Substitution - Missense	Lung
COSM3832370	c.3652C>T	p.Q1218*	Substitution - Nonsense	Cervix
COSM4387636	c.2657G>A	p.R886H	Substitution - Missense	Pancreas
COSM3879535	c.10192C>T	p.R3398W	Substitution - Missense	Stomach
COSM4162014	c.2534G>A	p.G845E	Substitution - Missense	Lung
COSM5941289	c.2291C>T	p.S764F	Substitution - Missense	Skin
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Soft_tissue
COSM1087572	c.7513A>G	p.I2505V	Substitution - Missense	Endometrium
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Central_nervous_system
COSM3879541	c.9521A>T	p.D3174V	Substitution - Missense	Stomach
COSM4500045	c.5566C>T	p.P1856S	Substitution - Missense	Skin
COSM485093	c.5641G>C	p.V1881L	Substitution - Missense	Kidney
COSM4414868	c.11436G>T	p.E3812D	Substitution - Missense	Kidney
COSM5758709	c.10442A>G	p.Q3481R	Substitution - Missense	Bone
COSM232797	c.10861G>A	p.A3621T	Substitution - Missense	Skin
COSM5420240	c.13290G>T	p.L4430F	Substitution - Missense	Pancreas
COSM3636455	c.13081A>T	p.S4361C	Substitution - Missense	Skin
COSM87960	c.7825C>T	p.R2609*	Substitution - Nonsense	Large_intestine
COSM124458	c.121C>T	p.R41C	Substitution - Missense	Skin
COSM376914	c.1004C>T	p.P335L	Substitution - Missense	Lung
COSM1087544	c.10737A>G	p.G3579G	Substitution - coding silent	Endometrium
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Soft_tissue
COSM3879555	c.7857A>G	p.L2619L	Substitution - coding silent	Stomach
COSM1087523	c.13000C>T	p.R4334W	Substitution - Missense	Endometrium
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Central_nervous_system
COSM1087615	c.3806G>A	p.G1269D	Substitution - Missense	Endometrium
COSM3928934	c.2231C>A	p.T744K	Substitution - Missense	Central_nervous_system
COSM4360998	c.13433G>A	p.R4478Q	Substitution - Missense	Large_intestine
COSM1635198	c.2185A>G	p.N729D	Substitution - Missense	Liver
COSM5519953	c.13052_13053insA	p.W4352fs*17	Insertion - Frameshift	Biliary_tract
COSM1581246	c.6965T>C	p.V2322A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM452710	c.5230G>T	p.E1744*	Substitution - Nonsense	Breast
COSM1131647	c.2755G>C	p.V919L	Substitution - Missense	Soft_tissue
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Soft_tissue
COSM4591023	c.871C>T	p.L291F	Substitution - Missense	Upper_aerodigestive_tract
COSM3879508	c.13520A>G	p.K4507R	Substitution - Missense	Stomach
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Central_nervous_system
COSM1312861	c.12975G>A	p.L4325L	Substitution - coding silent	Urinary_tract
COSM3304456	c.2360C>T	p.P787L	Substitution - Missense	Prostate
COSM5019722	c.850-7C>T	p.?	Unknown	Soft_tissue
COSM5019722	c.850-7C>T	p.?	Unknown	Soft_tissue
COSM5008671	c.13495A>G	p.K4499E	Substitution - Missense	Large_intestine
COSM5345300	c.6469G>C	p.D2157H	Substitution - Missense	Large_intestine
COSM1449378	c.13053_13054insA	p.W4352fs*17	Insertion - Frameshift	Large_intestine
COSM86082	c.2418C>G	p.S806S	Substitution - coding silent	Thyroid
COSM218914	c.3683C>A	p.S1228*	Substitution - Nonsense	Pancreas
COSM4595028	c.2681G>A	p.R894Q	Substitution - Missense	Soft_tissue
COSM1166766	c.12113delC	p.P4038fs*45	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4824099	c.6658C>T	p.Q2220*	Substitution - Nonsense	Cervix
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Soft_tissue
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Soft_tissue
COSM3304207	c.4889C>T	p.S1630L	Substitution - Missense	Large_intestine
COSM86082	c.2418C>G	p.S806S	Substitution - coding silent	Upper_aerodigestive_tract
COSM1312897	c.1066C>G	p.Q356E	Substitution - Missense	Urinary_tract
COSM1673710	c.5854T>G	p.L1952V	Substitution - Missense	Large_intestine
COSM3762512	c.8685G>A	p.Q2895Q	Substitution - coding silent	Large_intestine
COSM390677	c.13406G>T	p.G4469V	Substitution - Missense	Lung
COSM4625972	c.5116A>G	p.I1706V	Substitution - Missense	Large_intestine
COSM5434338	c.12565G>A	p.E4189K	Substitution - Missense	Oesophagus
COSM5997543	c.1146T>C	p.G382G	Substitution - coding silent	Prostate
COSM249560	c.5053G>T	p.A1685S	Substitution - Missense	Thyroid
COSM218912	c.11056A>C	p.N3686H	Substitution - Missense	Pancreas
COSM4983194	c.12415C>T	p.R4139*	Substitution - Nonsense	Breast
COSM1312893	c.1450C>A	p.H484N	Substitution - Missense	Urinary_tract
COSM5062324	c.487T>C	p.W163R	Substitution - Missense	Stomach
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Upper_aerodigestive_tract
COSM452728	c.2379G>A	p.S793S	Substitution - coding silent	Upper_aerodigestive_tract
COSM4591023	c.871C>T	p.L291F	Substitution - Missense	Upper_aerodigestive_tract
COSM452692	c.11205delA	p.K3735fs*10	Deletion - Frameshift	Breast
COSM3304240	c.4247C>T	p.S1416L	Substitution - Missense	Large_intestine
COSM3304314	c.2956C>G	p.P986A	Substitution - Missense	Urinary_tract
COSM5010051	c.5547G>A	p.K1849K	Substitution - coding silent	Large_intestine
COSM5700579	c.8993C>G	p.S2998*	Substitution - Nonsense	Soft_tissue
COSM5752272	c.13053delA	p.K4351fs*5	Deletion - Frameshift	Breast
COSM162508	c.11617G>C	p.E3873Q	Substitution - Missense	Breast
COSM230133	c.1173C>A	p.C391*	Substitution - Nonsense	Soft_tissue
COSM1179107	c.851G>A	p.R284Q	Substitution - Missense	Soft_tissue
COSM4603590	c.2448_2449insA	p.I817fs*11	Insertion - Frameshift	Upper_aerodigestive_tract
COSM4162024	c.946A>T	p.T316S	Substitution - Missense	Upper_aerodigestive_tract
COSM100082	c.8390_8390delA	p.K2797fs*26	Deletion - Frameshift	Large_intestine
COSM4949666	c.2815T>G	p.S939A	Substitution - Missense	Liver
COSM85089	c.14343+1G>A	p.?	Unknown	Pancreas
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Upper_aerodigestive_tract
COSM238538	c.14059delT	p.Y4687fs*29	Deletion - Frameshift	Prostate
COSM4591270	c.2512G>A	p.G838S	Substitution - Missense	Upper_aerodigestive_tract
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Large_intestine
COSM1662789	c.8237A>G	p.D2746G	Substitution - Missense	Kidney
COSM1699627	c.5396C>T	p.S1799L	Substitution - Missense	Skin
COSM3663041	c.2598G>T	p.R866R	Substitution - coding silent	Liver
COSM5985272	c.5259T>G	p.F1753L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM226619	c.857C>A	p.A286E	Substitution - Missense	Soft_tissue
COSM3879610	c.816C>T	p.N272N	Substitution - coding silent	Stomach
COSM5048889	c.3345G>C	p.Q1115H	Substitution - Missense	Oesophagus
COSM1721289	c.14344-3delT	p.?	Unknown	Skin
COSM4762631	c.14494G>T	p.D4832Y	Substitution - Missense	Stomach
COSM5927474	c.2825A>C	p.N942T	Substitution - Missense	Skin
COSM485085	c.7186C>T	p.Q2396*	Substitution - Nonsense	Kidney
COSM421530	c.2299G>C	p.E767Q	Substitution - Missense	Urinary_tract
COSM1087525	c.12817C>A	p.P4273T	Substitution - Missense	Endometrium
COSM3304388	c.2718C>T	p.G906G	Substitution - coding silent	Large_intestine
COSM3636507	c.5455A>T	p.M1819L	Substitution - Missense	Skin
COSM3879575	c.5870C>T	p.T1957M	Substitution - Missense	Stomach
COSM452694	c.10750G>A	p.G3584R	Substitution - Missense	Breast
COSM371483	c.10112C>T	p.S3371L	Substitution - Missense	Lung
COSM1166702	c.13432C>T	p.R4478*	Substitution - Nonsense	Breast
COSM162514	c.13244G>A	p.G4415E	Substitution - Missense	Breast
COSM4384344	c.3919T>G	p.S1307A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3762512	c.8685G>A	p.Q2895Q	Substitution - coding silent	Large_intestine
COSM452704	c.6439C>T	p.Q2147*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5752365	c.653delA	p.D218fs*43	Deletion - Frameshift	Breast
COSM227525	c.2294A>G	p.E765G	Substitution - Missense	Skin
COSM3928930	c.2415T>A	p.S805R	Substitution - Missense	Central_nervous_system
COSM5696677	c.13793A>G	p.Y4598C	Substitution - Missense	Soft_tissue
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Soft_tissue
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Soft_tissue
COSM4702472	c.14344-3_14344-2insT	p.?	Unknown	Large_intestine
COSM485103	c.966C>T	p.H322H	Substitution - coding silent	Kidney
COSM5019947	c.1025C>T	p.A342V	Substitution - Missense	Soft_tissue
COSM5700079	c.3842-1G>T	p.?	Unknown	Soft_tissue
COSM3733336	c.2263C>T	p.Q755*	Substitution - Nonsense	Endometrium
COSM26570	c.11323G>T	p.E3775*	Substitution - Nonsense	Central_nervous_system
COSM4774832	c.2153A>C	p.E718A	Substitution - Missense	Breast
COSM3636469	c.12061C>T	p.L4021L	Substitution - coding silent	Skin
COSM4767451	c.2769+5G>T	p.?	Unknown	Biliary_tract
COSM5455564	c.1984G>A	p.V662M	Substitution - Missense	Large_intestine
COSM6006415	c.5680C>A	p.P1894T	Substitution - Missense	Central_nervous_system
COSM4603590	c.2448_2449insA	p.I817fs*11	Insertion - Frameshift	Upper_aerodigestive_tract
COSM461640	c.3443C>G	p.S1148*	Substitution - Nonsense	Cervix
COSM1581252	c.3758A>C	p.E1253A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4944020	c.911_912insA	p.M305fs*28	Insertion - Frameshift	Breast
COSM225883	c.2968A>G	p.S990G	Substitution - Missense	Upper_aerodigestive_tract
COSM396785	c.2674G>A	p.G892R	Substitution - Missense	Thyroid
COSM1742356	c.12068T>A	p.L4023*	Substitution - Nonsense	Urinary_tract
COSM5944539	c.11558_11559insA	p.T3854fs*6	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM6008977	c.10864C>T	p.P3622S	Substitution - Missense	Large_intestine
COSM1449462	c.1657G>A	p.D553N	Substitution - Missense	Large_intestine
COSM452726	c.2722G>T	p.G908C	Substitution - Missense	Large_intestine
COSM1644778	c.315T>G	p.I105M	Substitution - Missense	Salivary_gland
COSM5752519	c.1381C>T	p.Q461*	Substitution - Nonsense	Breast
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Upper_aerodigestive_tract
COSM150428	c.2958A>G	p.P986P	Substitution - coding silent	Thyroid
COSM5935301	c.1237T>A	p.Y413N	Substitution - Missense	Skin
COSM1087641	c.2872-2A>G	p.?	Unknown	Endometrium
COSM5997323	c.9528G>T	p.Q3176H	Substitution - Missense	Prostate
COSM3879527	c.10967C>T	p.A3656V	Substitution - Missense	Stomach
COSM4912824	c.2884G>T	p.V962F	Substitution - Missense	Liver
COSM5501204	c.11495delG	p.G3832fs*57	Deletion - Frameshift	Biliary_tract
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Soft_tissue
COSM4886773	c.10145G>A	p.R3382Q	Substitution - Missense	Upper_aerodigestive_tract
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Soft_tissue
COSM3995466	c.2321C>G	p.A774G	Substitution - Missense	Kidney
COSM5919383	c.590+6C>T	p.?	Unknown	Skin
COSM4388600	c.162-6C>T	p.?	Unknown	Breast
COSM306871	c.12797_12799AAT>AAAT	p.Q4266fs	Complex	Central_nervous_system
COSM4384350	c.2386A>G	p.M796V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3879506	c.13749C>T	p.S4583S	Substitution - coding silent	Stomach
COSM4161998	c.2726G>A	p.R909K	Substitution - Missense	Upper_aerodigestive_tract
COSM4992944	c.1470-1G>A	p.?	Unknown	Skin
COSM312890	c.13822C>T	p.R4608C	Substitution - Missense	Lung
COSM745875	c.6919A>T	p.R2307*	Substitution - Nonsense	Lung
COSM3396810	c.2072C>G	p.S691C	Substitution - Missense	Breast
COSM3879583	c.4585A>T	p.S1529C	Substitution - Missense	Stomach
COSM5752198	c.5422_5423delAG	p.P1809fs*18	Deletion - Frameshift	Breast
COSM1163749	c.4051delA	p.R1351fs*23	Deletion - Frameshift	Pancreas
COSM254818	c.658C>T	p.Q220*	Substitution - Nonsense	Urinary_tract
COSM86082	c.2418C>G	p.S806S	Substitution - coding silent	Soft_tissue
COSM1635198	c.2185A>G	p.N729D	Substitution - Missense	Upper_aerodigestive_tract
COSM3879515	c.13059A>C	p.R4353S	Substitution - Missense	Stomach
COSM5407041	c.10408C>T	p.Q3470*	Substitution - Nonsense	Skin
COSM1087590	c.6062G>T	p.R2021M	Substitution - Missense	Endometrium
COSM289942	c.2447_2448insA	p.Y816fs*1	Insertion - Frameshift	Skin
COSM3733336	c.2263C>T	p.Q755*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM3636491	c.7346C>T	p.P2449L	Substitution - Missense	Skin
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Soft_tissue
COSM5358086	c.3084T>A	p.C1028*	Substitution - Nonsense	Large_intestine
COSM4563053	c.9555G>A	p.Q3185Q	Substitution - coding silent	Skin
COSM100083	c.10313G>A	p.G3438D	Substitution - Missense	Large_intestine
COSM302656	c.1138C>T	p.R380C	Substitution - Missense	Liver
COSM4162010	c.2573G>T	p.W858L	Substitution - Missense	Thyroid
COSM4384360	c.912G>A	p.Q304Q	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM1179107	c.851G>A	p.R284Q	Substitution - Missense	Soft_tissue
COSM4162024	c.946A>T	p.T316S	Substitution - Missense	Upper_aerodigestive_tract
COSM5597097	c.1266G>A	p.M422I	Substitution - Missense	Skin
COSM4702480	c.11793A>G	p.G3931G	Substitution - coding silent	Large_intestine
COSM1179669	c.943G>A	p.G315S	Substitution - Missense	Soft_tissue
COSM1329948	c.11241C>T	p.N3747N	Substitution - coding silent	Ovary
COSM4162008	c.2578C>T	p.P860S	Substitution - Missense	Large_intestine
COSM206268	c.3639C>T	p.S1213S	Substitution - coding silent	Stomach
COSM1087609	c.4593G>A	p.A1531A	Substitution - coding silent	Endometrium
COSM5887986	c.3434-8C>T	p.?	Unknown	Skin
COSM3733336	c.2263C>T	p.Q755*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1581240	c.7846C>T	p.P2616S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5015780	c.5234C>A	p.S1745*	Substitution - Nonsense	Kidney
COSM1241439	c.12195G>A	p.A4065A	Substitution - coding silent	Soft_tissue
COSM5046963	c.14053G>C	p.E4685Q	Substitution - Missense	Oesophagus
COSM150428	c.2958A>G	p.P986P	Substitution - coding silent	Soft_tissue
COSM5407039	c.12654C>T	p.T4218T	Substitution - coding silent	Skin
COSM745885	c.10355C>T	p.P3452L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1131647	c.2755G>C	p.V919L	Substitution - Missense	Soft_tissue
COSM1179669	c.943G>A	p.G315S	Substitution - Missense	Central_nervous_system
COSM4702518	c.1006G>A	p.E336K	Substitution - Missense	Large_intestine
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Central_nervous_system
COSM1184372	c.12416G>A	p.R4139Q	Substitution - Missense	Large_intestine
COSM4591270	c.2512G>A	p.G838S	Substitution - Missense	Prostate
COSM4591270	c.2512G>A	p.G838S	Substitution - Missense	Upper_aerodigestive_tract
COSM1179107	c.851G>A	p.R284Q	Substitution - Missense	Soft_tissue
COSM1087588	c.6082C>T	p.R2028*	Substitution - Nonsense	Breast
COSM1131647	c.2755G>C	p.V919L	Substitution - Missense	Thyroid
COSM673961	c.14543A>G	p.N4848S	Substitution - Missense	Central_nervous_system
COSM1581242	c.7829G>A	p.R2610Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1087639	c.2910A>G	p.A970A	Substitution - coding silent	Endometrium
COSM150428	c.2958A>G	p.P986P	Substitution - coding silent	Stomach
COSM5358365	c.10863T>G	p.A3621A	Substitution - coding silent	Large_intestine
COSM351572	c.10938G>C	p.V3646V	Substitution - coding silent	Lung
COSM3636513	c.4940A>G	p.E1647G	Substitution - Missense	Skin
COSM3636495	c.7296C>T	p.F2432F	Substitution - coding silent	Skin
COSM4768617	c.1038G>A	p.V346V	Substitution - coding silent	Thyroid
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Soft_tissue
COSM1318995	c.8377G>T	p.E2793*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3304725	c.427delA	p.S143fs*3	Deletion - Frameshift	Breast
COSM3685117	c.8040G>T	p.Q2680H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3923206	c.2401C>T	p.P801S	Substitution - Missense	Skin
COSM4909142	c.1050G>A	p.P350P	Substitution - coding silent	Large_intestine
COSM4432790	c.11233G>A	p.E3745K	Substitution - Missense	Oesophagus
COSM745885	c.10355C>T	p.P3452L	Substitution - Missense	Lung
COSM5891405	c.7334C>T	p.S2445F	Substitution - Missense	Skin
COSM5019620	c.1179C>T	p.N393N	Substitution - coding silent	Soft_tissue
COSM3636529	c.2417C>T	p.S806F	Substitution - Missense	Skin
COSM100084	c.13630C>T	p.R4544W	Substitution - Missense	Large_intestine
COSM396785	c.2674G>A	p.G892R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1673697	c.12955G>A	p.E4319K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3262459	c.12775G>A	p.E4259K	Substitution - Missense	Endometrium
COSM3674878	c.5614C>T	p.Q1872*	Substitution - Nonsense	Prostate
COSM86082	c.2418C>G	p.S806S	Substitution - coding silent	Central_nervous_system
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Soft_tissue
COSM2153801	c.13078T>C	p.W4360R	Substitution - Missense	Central_nervous_system
COSM1179107	c.851G>A	p.R284Q	Substitution - Missense	Upper_aerodigestive_tract
COSM4162024	c.946A>T	p.T316S	Substitution - Missense	Bone
COSM5358181	c.6519A>G	p.P2173P	Substitution - coding silent	Large_intestine
COSM306871	c.12797_12799AAT>AAAT	p.Q4266fs	Complex	Central_nervous_system
COSM85096	c.6005G>A	p.G2002E	Substitution - Missense	Pancreas
COSM3411837	c.2266G>A	p.G756R	Substitution - Missense	Central_nervous_system
COSM4800872	c.1933G>T	p.D645Y	Substitution - Missense	Liver
COSM1179107	c.851G>A	p.R284Q	Substitution - Missense	Soft_tissue
COSM1699621	c.10630T>C	p.F3544L	Substitution - Missense	Skin
COSM1635188	c.13320T>A	p.Y4440*	Substitution - Nonsense	Liver
COSM4606482	c.2459C>T	p.T820I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5752566	c.8789C>G	p.S2930*	Substitution - Nonsense	Breast
COSM1581234	c.10763C>T	p.S3588L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM206276	c.1966G>A	p.V656I	Substitution - Missense	Prostate
COSM485099	c.1073T>G	p.F358C	Substitution - Missense	Kidney
COSM1488397	c.3674_3675delCA	p.S1225fs*1	Deletion - Frameshift	Breast
COSM1449400	c.10812G>T	p.K3604N	Substitution - Missense	Large_intestine
COSM3304684	c.891C>T	p.C297C	Substitution - coding silent	Soft_tissue
COSM4162014	c.2534G>A	p.G845E	Substitution - Missense	Upper_aerodigestive_tract
COSM5021552	c.2532+6G>T	p.?	Unknown	Large_intestine
COSM5763385	c.14586T>G	p.F4862L	Substitution - Missense	Large_intestine
COSM5358420	c.14530G>A	p.A4844T	Substitution - Missense	Large_intestine
COSM1257793	c.7397A>G	p.Y2466C	Substitution - Missense	Oesophagus
COSM4162002	c.2656C>T	p.R886C	Substitution - Missense	Thyroid
COSM1087570	c.7571G>A	p.R2524K	Substitution - Missense	Endometrium
COSM5752471	c.1193delG	p.G398fs*7	Deletion - Frameshift	Breast
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Soft_tissue
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Soft_tissue
COSM745825	c.915G>C	p.M305I	Substitution - Missense	Lung
COSM4591270	c.2512G>A	p.G838S	Substitution - Missense	Upper_aerodigestive_tract
COSM5020218	c.12099G>A	p.P4033P	Substitution - coding silent	Soft_tissue
COSM150428	c.2958A>G	p.P986P	Substitution - coding silent	Central_nervous_system
COSM4162024	c.946A>T	p.T316S	Substitution - Missense	Upper_aerodigestive_tract
COSM1166702	c.13432C>T	p.R4478*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM452730	c.2165G>A	p.G722E	Substitution - Missense	Breast
COSM3982070	c.850C>G	p.R284G	Substitution - Missense	Oesophagus
COSM4635492	c.7746A>G	p.V2582V	Substitution - coding silent	Large_intestine
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Central_nervous_system
COSM3304213	c.4750G>A	p.G1584R	Substitution - Missense	Large_intestine
COSM86082	c.2418C>G	p.S806S	Substitution - coding silent	Soft_tissue
COSM4590380	c.7443A>T	p.R2481S	Substitution - Missense	Upper_aerodigestive_tract
COSM4162000	c.2706G>A	p.S902S	Substitution - coding silent	Biliary_tract
COSM5009667	c.6729C>T	p.L2243L	Substitution - coding silent	Large_intestine
COSM1087564	c.8297T>C	p.M2766T	Substitution - Missense	Endometrium
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Soft_tissue
COSM5710464	c.2509C>A	p.P837T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM312892	c.7807A>G	p.R2603G	Substitution - Missense	Lung
COSM245711	c.10951G>T	p.E3651*	Substitution - Nonsense	Prostate
COSM396785	c.2674G>A	p.G892R	Substitution - Missense	Lung
COSM745873	c.6244A>G	p.I2082V	Substitution - Missense	Lung
COSM1673697	c.12955G>A	p.E4319K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4767451	c.2769+5G>T	p.?	Unknown	Biliary_tract
COSM5453043	c.6311C>T	p.A2104V	Substitution - Missense	Large_intestine
COSM5943039	c.2818_2819insT	p.M940fs*10	Insertion - Frameshift	Skin
COSM4469696	c.1614C>T	p.L538L	Substitution - coding silent	Skin
COSM3923210	c.1068G>A	p.Q356Q	Substitution - coding silent	Skin
COSM1179669	c.943G>A	p.G315S	Substitution - Missense	Central_nervous_system
COSM4437503	c.14682_14684delGCA	p.Q4894delQ	Deletion - In frame	Oesophagus
COSM1087568	c.7769A>G	p.H2590R	Substitution - Missense	Endometrium
COSM452726	c.2722G>T	p.G908C	Substitution - Missense	Soft_tissue
COSM3733684	c.10659_10660insT	p.T3554fs*12	Insertion - Frameshift	Pancreas
COSM3728525	c.8244C>A	p.L2748L	Substitution - coding silent	Stomach
COSM745889	c.10356C>T	p.P3452P	Substitution - coding silent	Lung
COSM3950213	c.442G>A	p.G148R	Substitution - Missense	Lung
COSM4607987	c.5290C>A	p.Q1764K	Substitution - Missense	Adrenal_gland
COSM5960673	c.12887C>G	p.P4296R	Substitution - Missense	Breast
COSM5835374	c.1484_1485insCC	p.E495fs*42	Insertion - Frameshift	Breast
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Soft_tissue
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Central_nervous_system
COSM312888	c.12138A>T	p.K4046N	Substitution - Missense	Soft_tissue
COSM3636505	c.5744C>T	p.S1915F	Substitution - Missense	Skin
COSM4564620	c.13099_13100CC>TT	p.P4367F	Substitution - Missense	Skin
COSM4702506	c.5346_5351delGCAGCA	p.Q1786_Q1787delQQ	Deletion - In frame	Large_intestine
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Soft_tissue
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Thyroid
COSM1312867	c.9638C>T	p.S3213L	Substitution - Missense	Thyroid
COSM3778261	c.1851A>G	p.K617K	Substitution - coding silent	Urinary_tract
COSM4643150	c.7146A>G	p.R2382R	Substitution - coding silent	Large_intestine
COSM1087499	c.14549C>T	p.S4850L	Substitution - Missense	Endometrium
COSM312892	c.7807A>G	p.R2603G	Substitution - Missense	Soft_tissue
COSM5806939	c.10855A>G	p.T3619A	Substitution - Missense	Liver
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Upper_aerodigestive_tract
COSM1180098	c.1005T>A	p.P335P	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM1662787	c.12914C>G	p.P4305R	Substitution - Missense	Kidney
COSM4591270	c.2512G>A	p.G838S	Substitution - Missense	Upper_aerodigestive_tract
COSM1179107	c.851G>A	p.R284Q	Substitution - Missense	Soft_tissue
COSM1179107	c.851G>A	p.R284Q	Substitution - Missense	Soft_tissue
COSM5563456	c.7191G>T	p.Q2397H	Substitution - Missense	Prostate
COSM302658	c.11110G>T	p.V3704L	Substitution - Missense	Central_nervous_system
COSM5985642	c.?	p.T180fs*10	Frameshift	Salivary_gland
COSM3733336	c.2263C>T	p.Q755*	Substitution - Nonsense	Oesophagus
COSM4702522	c.511_513delAAG	p.K171delK	Deletion - In frame	Small_intestine
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Soft_tissue
COSM1729945	c.569G>C	p.R190P	Substitution - Missense	Liver
COSM3879577	c.5792C>A	p.S1931*	Substitution - Nonsense	Stomach
COSM5752534	c.4853C>G	p.S1618*	Substitution - Nonsense	Breast
COSM1622600	c.4093-10C>G	p.?	Unknown	Liver
COSM1635196	c.2304A>G	p.S768S	Substitution - coding silent	Large_intestine
COSM4983194	c.12415C>T	p.R4139*	Substitution - Nonsense	Oesophagus
COSM4975597	c.734C>T	p.S245F	Substitution - Missense	Oesophagus
COSM1292468	c.7455A>G	p.P2485P	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM1087560	c.9157C>A	p.L3053I	Substitution - Missense	Endometrium
COSM225885	c.1139G>T	p.R380L	Substitution - Missense	Pancreas
COSM5617402	c.3842-5G>C	p.?	Unknown	Lung
COSM5944310	c.2506delT	p.S836fs*18	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM249560	c.5053G>T	p.A1685S	Substitution - Missense	Prostate
COSM100082	c.8390_8390delA	p.K2797fs*26	Deletion - Frameshift	Large_intestine
COSM328978	c.8390delA	p.K2797fs*26	Deletion - Frameshift	Stomach
COSM225885	c.1139G>T	p.R380L	Substitution - Missense	Soft_tissue
COSM228110	c.1042G>A	p.D348N	Substitution - Missense	Soft_tissue
COSM4824099	c.6658C>T	p.Q2220*	Substitution - Nonsense	Cervix
COSM400690	c.944G>A	p.G315D	Substitution - Missense	Lung
COSM3950203	c.10054C>T	p.Q3352*	Substitution - Nonsense	Lung
COSM5752237	c.8797_8812del16	p.R2933fs*21	Deletion - Frameshift	Breast
COSM86082	c.2418C>G	p.S806S	Substitution - coding silent	Soft_tissue
COSM4590380	c.7443A>T	p.R2481S	Substitution - Missense	Upper_aerodigestive_tract
COSM328978	c.8390delA	p.K2797fs*26	Deletion - Frameshift	Large_intestine
COSM1581240	c.7846C>T	p.P2616S	Substitution - Missense	Skin
COSM1179669	c.943G>A	p.G315S	Substitution - Missense	Soft_tissue
COSM1755183	c.10647G>T	p.V3549V	Substitution - coding silent	Urinary_tract
COSM1581234	c.10763C>T	p.S3588L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5985272	c.5259T>G	p.F1753L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3304578	c.1121C>T	p.A374V	Substitution - Missense	Liver
COSM5944541	c.8002_8003insG	p.S2668fs*2	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM162502	c.7442+1G>A	p.?	Unknown	Breast
COSM4898666	c.898G>A	p.E300K	Substitution - Missense	Skin
COSM1179107	c.851G>A	p.R284Q	Substitution - Missense	Upper_aerodigestive_tract
COSM1087637	c.2976+4A>C	p.?	Unknown	Endometrium
COSM308282	c.13080G>A	p.W4360*	Substitution - Nonsense	Biliary_tract
COSM421528	c.1483G>C	p.E495Q	Substitution - Missense	Urinary_tract
COSM745819	c.166C>T	p.R56*	Substitution - Nonsense	Lung
COSM371186	c.6517C>T	p.P2173S	Substitution - Missense	Lung
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Central_nervous_system
COSM126806	c.12835C>T	p.Q4279*	Substitution - Nonsense	Large_intestine
COSM225885	c.1139G>T	p.R380L	Substitution - Missense	Soft_tissue
COSM225885	c.1139G>T	p.R380L	Substitution - Missense	Large_intestine
COSM4702496	c.8525delA	p.N2842fs*21	Deletion - Frameshift	Large_intestine
COSM1581242	c.7829G>A	p.R2610Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5407037	c.12908C>T	p.A4303V	Substitution - Missense	Skin
COSM5048887	c.3587G>T	p.R1196I	Substitution - Missense	Oesophagus
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Upper_aerodigestive_tract
COSM4771399	c.4406C>T	p.S1469F	Substitution - Missense	Breast
COSM1179107	c.851G>A	p.R284Q	Substitution - Missense	Upper_aerodigestive_tract
COSM485097	c.1299+1G>A	p.?	Unknown	Kidney
COSM3636475	c.11080C>T	p.P3694S	Substitution - Missense	Skin
COSM3832338	c.9831A>C	p.P3277P	Substitution - coding silent	Breast
COSM1181044	c.13488delT	p.F4496fs*21	Deletion - Frameshift	Oesophagus
COSM225885	c.1139G>T	p.R380L	Substitution - Missense	Soft_tissue
COSM1131651	c.13319A>G	p.Y4440C	Substitution - Missense	Prostate
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Central_nervous_system
COSM4006667	c.3340T>C	p.C1114R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4162020	c.2189C>A	p.S730Y	Substitution - Missense	Upper_aerodigestive_tract
COSM5985630	c.?	p.G148A	Substitution - Missense	Salivary_gland
COSM1312895	c.1102G>C	p.G368R	Substitution - Missense	Urinary_tract
COSM1179107	c.851G>A	p.R284Q	Substitution - Missense	Soft_tissue
COSM3411843	c.1087G>T	p.G363C	Substitution - Missense	Central_nervous_system
COSM5415248	c.5825C>T	p.T1942I	Substitution - Missense	Ovary
COSM5721127	c.5475C>T	p.F1825F	Substitution - coding silent	Skin
COSM225885	c.1139G>T	p.R380L	Substitution - Missense	Liver
COSM4591023	c.871C>T	p.L291F	Substitution - Missense	Upper_aerodigestive_tract
COSM85090	c.13297G>A	p.A4433T	Substitution - Missense	Pancreas
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Upper_aerodigestive_tract
COSM227525	c.2294A>G	p.E765G	Substitution - Missense	Upper_aerodigestive_tract
COSM452672	c.13273G>T	p.D4425Y	Substitution - Missense	Kidney
COSM4139341	c.9354G>T	p.M3118I	Substitution - Missense	Pancreas
COSM4594560	c.2591A>G	p.E864G	Substitution - Missense	Upper_aerodigestive_tract
COSM5835370	c.1942_1943insTTTT	p.E648fs*8	Insertion - Frameshift	Breast
COSM1635198	c.2185A>G	p.N729D	Substitution - Missense	Skin
COSM3942126	c.10319A>G	p.E3440G	Substitution - Missense	Oesophagus
COSM745827	c.945C>T	p.G315G	Substitution - coding silent	Lung
COSM5752832	c.9798_9799insG	p.I3267fs*59	Insertion - Frameshift	Breast
COSM78095	c.8911T>G	p.S2971A	Substitution - Missense	Ovary
COSM4384326	c.7523C>T	p.S2508F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5062322	c.5036C>T	p.A1679V	Substitution - Missense	Stomach
COSM1292466	c.14720G>A	p.R4907Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1699623	c.9376T>C	p.F3126L	Substitution - Missense	Skin
COSM4006667	c.3340T>C	p.C1114R	Substitution - Missense	Urinary_tract
COSM4161994	c.2917A>G	p.R973G	Substitution - Missense	Large_intestine
COSM4161998	c.2726G>A	p.R909K	Substitution - Missense	Upper_aerodigestive_tract
COSM4591270	c.2512G>A	p.G838S	Substitution - Missense	Upper_aerodigestive_tract
COSM5024898	c.12808A>T	p.R4270*	Substitution - Nonsense	Breast
COSM5591869	c.332C>T	p.S111F	Substitution - Missense	Skin
COSM745883	c.9278C>T	p.T3093I	Substitution - Missense	Lung
COSM150428	c.2958A>G	p.P986P	Substitution - coding silent	Central_nervous_system
COSM3358110	c.13507T>C	p.C4503R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4162024	c.946A>T	p.T316S	Substitution - Missense	Upper_aerodigestive_tract
COSM5563453	c.7153C>T	p.Q2385*	Substitution - Nonsense	Prostate
COSM1180005	c.8519A>G	p.E2840G	Substitution - Missense	Prostate
COSM1312863	c.12035G>C	p.G4012A	Substitution - Missense	Urinary_tract
COSM4162014	c.2534G>A	p.G845E	Substitution - Missense	Thyroid
COSM4162020	c.2189C>A	p.S730Y	Substitution - Missense	Thyroid
COSM230133	c.1173C>A	p.C391*	Substitution - Nonsense	Soft_tissue
COSM4603590	c.2448_2449insA	p.I817fs*11	Insertion - Frameshift	Upper_aerodigestive_tract
COSM5006541	c.1191G>A	p.S397S	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM1087546	c.10418C>A	p.P3473Q	Substitution - Missense	Endometrium
COSM5630943	c.10519C>T	p.R3507*	Substitution - Nonsense	Oesophagus
COSM1087566	c.7821C>T	p.P2607P	Substitution - coding silent	Endometrium
COSM5628153	c.1342C>T	p.Q448*	Substitution - Nonsense	Breast
COSM5985551	c.177delG	p.T61fs*44	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1179107	c.851G>A	p.R284Q	Substitution - Missense	Central_nervous_system
COSM2153691	c.12897T>G	p.A4299A	Substitution - coding silent	Central_nervous_system
COSM1184376	c.11728C>T	p.P3910S	Substitution - Missense	Large_intestine
COSM5569839	c.10927A>G	p.T3643A	Substitution - Missense	Prostate
COSM100082	c.8390_8390delA	p.K2797fs*26	Deletion - Frameshift	Large_intestine
COSM5997325	c.6868G>T	p.V2290F	Substitution - Missense	Prostate
COSM4605514	c.5028G>A	p.K1676K	Substitution - coding silent	Upper_aerodigestive_tract
COSM5445130	c.2306C>A	p.S769*	Substitution - Nonsense	Oesophagus
COSM745835	c.1103G>T	p.G368V	Substitution - Missense	Lung
COSM1087535	c.11761G>A	p.A3921T	Substitution - Missense	Endometrium
COSM1184386	c.14074G>A	p.G4692S	Substitution - Missense	Large_intestine
COSM3879517	c.11790C>T	p.A3930A	Substitution - coding silent	Stomach
COSM4591270	c.2512G>A	p.G838S	Substitution - Missense	Upper_aerodigestive_tract
COSM5407049	c.4897C>T	p.Q1633*	Substitution - Nonsense	Skin
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Central_nervous_system
COSM4603154	c.3610_3611insA	p.L1204fs*10	Insertion - Frameshift	Upper_aerodigestive_tract
COSM5880187	c.8453T>C	p.V2818A	Substitution - Missense	Skin
COSM4918276	c.9968A>C	p.H3323P	Substitution - Missense	Liver
COSM225883	c.2968A>G	p.S990G	Substitution - Missense	Skin
COSM745839	c.1804C>G	p.L602V	Substitution - Missense	Lung
COSM150428	c.2958A>G	p.P986P	Substitution - coding silent	Soft_tissue
COSM1733387	c.12040G>T	p.E4014*	Substitution - Nonsense	Pancreas
COSM1087588	c.6082C>T	p.R2028*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM150424	c.5068A>C	p.R1690R	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM225885	c.1139G>T	p.R380L	Substitution - Missense	Skin
COSM3304642	c.954G>A	p.Q318Q	Substitution - coding silent	Skin
COSM5627391	c.10560A>T	p.P3520P	Substitution - coding silent	Oesophagus
COSM1257789	c.9037delA	p.T3013fs*19	Deletion - Frameshift	Oesophagus
COSM5825291	c.11693C>A	p.P3898Q	Substitution - Missense	Pancreas
COSM4591270	c.2512G>A	p.G838S	Substitution - Missense	Prostate
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Soft_tissue
COSM1179107	c.851G>A	p.R284Q	Substitution - Missense	Large_intestine
COSM4162024	c.946A>T	p.T316S	Substitution - Missense	Thyroid
COSM1179669	c.943G>A	p.G315S	Substitution - Missense	Central_nervous_system
COSM254816	c.5287C>T	p.Q1763*	Substitution - Nonsense	Urinary_tract
COSM1173303	c.10741A>T	p.S3581C	Substitution - Missense	Oesophagus
COSM3879573	c.6196C>T	p.R2066*	Substitution - Nonsense	Stomach
COSM4162014	c.2534G>A	p.G845E	Substitution - Missense	Upper_aerodigestive_tract
COSM4162022	c.1131A>T	p.P377P	Substitution - coding silent	Thyroid
COSM230133	c.1173C>A	p.C391*	Substitution - Nonsense	Soft_tissue
COSM3663039	c.8391G>A	p.K2797K	Substitution - coding silent	Liver
COSM452716	c.4141A>G	p.I1381V	Substitution - Missense	Breast
COSM1087501	c.14416C>T	p.R4806*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM1181044	c.13488delT	p.F4496fs*21	Deletion - Frameshift	Large_intestine
COSM2153781	c.12898T>G	p.S4300A	Substitution - Missense	Central_nervous_system
COSM1131647	c.2755G>C	p.V919L	Substitution - Missense	Soft_tissue
COSM3636451	c.14185T>G	p.L4729V	Substitution - Missense	Skin
COSM5752198	c.5422_5423delAG	p.P1809fs*18	Deletion - Frameshift	Breast
COSM745871	c.6136C>A	p.P2046T	Substitution - Missense	Lung
COSM1733389	c.10507C>G	p.Q3503E	Substitution - Missense	Pancreas
COSM4162006	c.2645T>C	p.I882T	Substitution - Missense	Thyroid
COSM1179107	c.851G>A	p.R284Q	Substitution - Missense	Upper_aerodigestive_tract
COSM1312867	c.9638C>T	p.S3213L	Substitution - Missense	Skin
COSM32444	c.1198G>A	p.D400N	Substitution - Missense	Large_intestine
COSM5944163	c.329G>A	p.R110Q	Substitution - Missense	Bone
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Central_nervous_system
COSM1449442	c.4929G>T	p.E1643D	Substitution - Missense	Large_intestine
COSM3832368	c.4174C>T	p.Q1392*	Substitution - Nonsense	Breast
COSM4389565	c.10112C>A	p.S3371*	Substitution - Nonsense	Pancreas
COSM5501626	c.14416C>A	p.R4806R	Substitution - coding silent	Biliary_tract
COSM5694858	c.4547delG	p.G1516fs*47	Deletion - Frameshift	Soft_tissue
COSM230133	c.1173C>A	p.C391*	Substitution - Nonsense	Bone
COSM4161996	c.2763A>G	p.L921L	Substitution - coding silent	Liver
COSM452674	c.13168delC	p.K4391fs*22	Deletion - Frameshift	Breast
COSM5547541	c.6125_6134del10	p.P2042fs*33	Deletion - Frameshift	Prostate
COSM3923212	c.983C>T	p.P328L	Substitution - Missense	Skin
COSM228110	c.1042G>A	p.D348N	Substitution - Missense	Soft_tissue
COSM302662	c.4793+1G>C	p.?	Unknown	Central_nervous_system
COSM1087596	c.5717G>A	p.R1906Q	Substitution - Missense	Endometrium
COSM3995464	c.3564G>T	p.Q1188H	Substitution - Missense	Kidney
COSM4162018	c.2315C>T	p.S772L	Substitution - Missense	Upper_aerodigestive_tract
COSM5835360	c.9444delC	p.I3149fs*7	Deletion - Frameshift	Breast
COSM421526	c.1121C>A	p.A374E	Substitution - Missense	Urinary_tract
COSM150428	c.2958A>G	p.P986P	Substitution - coding silent	Soft_tissue
COSM5062318	c.9671G>A	p.R3224H	Substitution - Missense	Stomach
COSM3394630	c.3046G>A	p.A1016T	Substitution - Missense	Pancreas
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Soft_tissue
COSM3304376	c.2769+1G>T	p.?	Unknown	Breast
COSM4770500	c.11594C>G	p.S3865*	Substitution - Nonsense	Autonomic_ganglia
COSM5019722	c.850-7C>T	p.?	Unknown	Soft_tissue
COSM5020752	c.10979C>T	p.S3660L	Substitution - Missense	Soft_tissue
COSM86082	c.2418C>G	p.S806S	Substitution - coding silent	Soft_tissue
COSM3928932	c.2344T>C	p.S782P	Substitution - Missense	Central_nervous_system
COSM5791321	c.13739A>C	p.Y4580S	Substitution - Missense	Breast
COSM5358232	c.11049A>C	p.K3683N	Substitution - Missense	Large_intestine
COSM4530510	c.1703G>A	p.G568D	Substitution - Missense	Skin
COSM228110	c.1042G>A	p.D348N	Substitution - Missense	Soft_tissue
COSM5894871	c.900G>T	p.E300D	Substitution - Missense	Skin
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Soft_tissue
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Upper_aerodigestive_tract
COSM1131649	c.13254G>T	p.R4418S	Substitution - Missense	Prostate
COSM5757016	c.12906_12907insT	p.A4303fs*12	Insertion - Frameshift	Large_intestine
COSM5752283	c.1796_1799delATAG	p.D599fs*12	Deletion - Frameshift	Breast
COSM5662051	c.2455G>T	p.V819F	Substitution - Missense	Soft_tissue
COSM4992926	c.8081C>T	p.P2694L	Substitution - Missense	Skin
COSM4603590	c.2448_2449insA	p.I817fs*11	Insertion - Frameshift	Upper_aerodigestive_tract
COSM5654800	c.446A>T	p.D149V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1087554	c.9454G>T	p.D3152Y	Substitution - Missense	Endometrium
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Central_nervous_system
COSM225885	c.1139G>T	p.R380L	Substitution - Missense	Soft_tissue
COSM1087659	c.947C>G	p.T316S	Substitution - Missense	Prostate
COSM228110	c.1042G>A	p.D348N	Substitution - Missense	Large_intestine
COSM85090	c.13297G>A	p.A4433T	Substitution - Missense	Stomach
COSM400690	c.944G>A	p.G315D	Substitution - Missense	Thyroid
COSM1744912	c.13549delA	p.S4517fs*109	Deletion - Frameshift	Biliary_tract
COSM4162018	c.2315C>T	p.S772L	Substitution - Missense	Upper_aerodigestive_tract
COSM4594560	c.2591A>G	p.E864G	Substitution - Missense	Upper_aerodigestive_tract
COSM4767639	c.8756C>G	p.S2919*	Substitution - Nonsense	Biliary_tract
COSM5009480	c.8040G>A	p.Q2680Q	Substitution - coding silent	Large_intestine
COSM1179107	c.851G>A	p.R284Q	Substitution - Missense	Prostate
COSM3950205	c.7443-6T>A	p.?	Unknown	Lung
COSM86083	c.5823A>T	p.T1941T	Substitution - coding silent	Breast
COSM4768617	c.1038G>A	p.V346V	Substitution - coding silent	Oesophagus
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Skin
COSM216053	c.2961C>G	p.Y987*	Substitution - Nonsense	Thyroid
COSM1449454	c.3292G>T	p.D1098Y	Substitution - Missense	Large_intestine
COSM1699617	c.13016A>G	p.H4339R	Substitution - Missense	Skin
COSM4591270	c.2512G>A	p.G838S	Substitution - Missense	Upper_aerodigestive_tract
COSM1087550	c.10236G>A	p.R3412R	Substitution - coding silent	Endometrium
COSM245709	c.13645C>T	p.R4549C	Substitution - Missense	Large_intestine
COSM328978	c.8390delA	p.K2797fs*26	Deletion - Frameshift	Breast
COSM1087659	c.947C>G	p.T316S	Substitution - Missense	Prostate
COSM225883	c.2968A>G	p.S990G	Substitution - Missense	Soft_tissue
COSM227525	c.2294A>G	p.E765G	Substitution - Missense	Thyroid
COSM3636499	c.6606A>T	p.P2202P	Substitution - coding silent	Skin
COSM4162014	c.2534G>A	p.G845E	Substitution - Missense	Upper_aerodigestive_tract
COSM4381931	c.943G>T	p.G315C	Substitution - Missense	Upper_aerodigestive_tract
COSM5014768	c.13310C>T	p.T4437M	Substitution - Missense	Kidney
COSM5984224	c.1198G>C	p.D400H	Substitution - Missense	Upper_aerodigestive_tract
COSM452678	c.12239_12240insT	p.S4081fs*12	Insertion - Frameshift	Breast
COSM5026858	c.7171_7175delATTCT	p.I2391fs*37	Deletion - Frameshift	Breast
COSM4702474	c.14068C>T	p.R4690*	Substitution - Nonsense	Large_intestine
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Upper_aerodigestive_tract
COSM1622592	c.13349T>C	p.V4450A	Substitution - Missense	Liver
COSM363443	c.595C>T	p.R199*	Substitution - Nonsense	Lung
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Soft_tissue
COSM254818	c.658C>T	p.Q220*	Substitution - Nonsense	Urinary_tract
COSM392787	c.6473delC	p.P2158fs*37	Deletion - Frameshift	Lung
COSM1180098	c.1005T>A	p.P335P	Substitution - coding silent	Breast
COSM4004383	c.9235C>T	p.R3079*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4162010	c.2573G>T	p.W858L	Substitution - Missense	Thyroid
COSM4800872	c.1933G>T	p.D645Y	Substitution - Missense	Liver
COSM5671438	c.10699A>C	p.S3567R	Substitution - Missense	Soft_tissue
COSM5752283	c.1796_1799delATAG	p.D599fs*12	Deletion - Frameshift	Breast
COSM86082	c.2418C>G	p.S806S	Substitution - coding silent	Soft_tissue
COSM3733473	c.7894_7896delCAA	p.Q2633delQ	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM4603590	c.2448_2449insA	p.I817fs*11	Insertion - Frameshift	Upper_aerodigestive_tract
COSM1087649	c.2056A>C	p.K686Q	Substitution - Missense	Endometrium
COSM85095	c.6070G>C	p.D2024H	Substitution - Missense	Pancreas
COSM85097	c.5919G>T	p.V1973V	Substitution - coding silent	Pancreas
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Upper_aerodigestive_tract
COSM3304448	c.2410C>G	p.L804V	Substitution - Missense	Upper_aerodigestive_tract
COSM4842010	c.6074C>G	p.S2025*	Substitution - Nonsense	Cervix
COSM328978	c.8390delA	p.K2797fs*26	Deletion - Frameshift	Breast
COSM4788302	c.11237G>T	p.G3746V	Substitution - Missense	Liver
COSM3304426	c.2529A>G	p.K843K	Substitution - coding silent	Central_nervous_system
COSM4610746	c.2680C>T	p.R894W	Substitution - Missense	Skin
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Central_nervous_system
COSM1179107	c.851G>A	p.R284Q	Substitution - Missense	Upper_aerodigestive_tract
COSM5731085	c.3989delT	p.L1330fs*1	Deletion - Frameshift	Breast
COSM3733336	c.2263C>T	p.Q755*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM28365	c.4549G>A	p.G1517R	Substitution - Missense	Large_intestine
COSM1087668	c.569G>A	p.R190Q	Substitution - Missense	Endometrium
COSM206276	c.1966G>A	p.V656I	Substitution - Missense	Prostate
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Upper_aerodigestive_tract
COSM5721127	c.5475C>T	p.F1825F	Substitution - coding silent	Skin
COSM363443	c.595C>T	p.R199*	Substitution - Nonsense	Lung
COSM5407035	c.14403C>T	p.I4801I	Substitution - coding silent	Skin
COSM308335	c.11906_11907insAA	p.D3970fs*18	Insertion - Frameshift	Biliary_tract
COSM452672	c.13273G>T	p.D4425Y	Substitution - Missense	Breast
COSM452708	c.5974G>C	p.E1992Q	Substitution - Missense	Breast
COSM4162018	c.2315C>T	p.S772L	Substitution - Missense	Upper_aerodigestive_tract
COSM5752160	c.1863_1887del25	p.N621fs*6	Deletion - Frameshift	Breast
COSM1087672	c.403G>A	p.A135T	Substitution - Missense	Endometrium
COSM485079	c.9181C>A	p.Q3061K	Substitution - Missense	Kidney
COSM452696	c.10571T>C	p.V3524A	Substitution - Missense	Breast
COSM3879553	c.8602A>G	p.T2868A	Substitution - Missense	Stomach
COSM4386171	c.2228C>T	p.P743L	Substitution - Missense	Upper_aerodigestive_tract
COSM3733336	c.2263C>T	p.Q755*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM3304106	c.7959A>G	p.L2653L	Substitution - coding silent	Large_intestine
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Soft_tissue
COSM308080	c.14641G>T	p.E4881*	Substitution - Nonsense	Biliary_tract
COSM402953	c.1067A>T	p.Q356L	Substitution - Missense	Lung
COSM452726	c.2722G>T	p.G908C	Substitution - Missense	Soft_tissue
COSM4162014	c.2534G>A	p.G845E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5560297	c.4676T>C	p.M1559T	Substitution - Missense	Prostate
COSM328978	c.8390delA	p.K2797fs*26	Deletion - Frameshift	Large_intestine
COSM225885	c.1139G>T	p.R380L	Substitution - Missense	Prostate
COSM5881457	c.?	p.A2456T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1162368	c.10765C>G	p.L3589V	Substitution - Missense	Pancreas
COSM1180098	c.1005T>A	p.P335P	Substitution - coding silent	Large_intestine
COSM4162014	c.2534G>A	p.G845E	Substitution - Missense	Thyroid
COSM5835366	c.5359_5360insT	p.Q1787fs*18	Insertion - Frameshift	Breast
COSM1131645	c.2710C>T	p.R904*	Substitution - Nonsense	Prostate
COSM4603590	c.2448_2449insA	p.I817fs*11	Insertion - Frameshift	Upper_aerodigestive_tract
COSM4591023	c.871C>T	p.L291F	Substitution - Missense	Upper_aerodigestive_tract
COSM3304340	c.2895T>C	p.S965S	Substitution - coding silent	Soft_tissue
COSM100083	c.10313G>A	p.G3438D	Substitution - Missense	Large_intestine
COSM227525	c.2294A>G	p.E765G	Substitution - Missense	Prostate
COSM4161992	c.10812G>A	p.K3604K	Substitution - coding silent	Thyroid
COSM5886537	c.11947C>T	p.Q3983*	Substitution - Nonsense	Skin
COSM230133	c.1173C>A	p.C391*	Substitution - Nonsense	Soft_tissue
COSM4824462	c.1767G>C	p.K589N	Substitution - Missense	Cervix
COSM218910	c.12507_12508delAT	p.F4170fs*11	Deletion - Frameshift	Pancreas
COSM3703175	c.14534+5G>T	p.?	Unknown	Liver
COSM4167432	c.370G>A	p.G124S	Substitution - Missense	Central_nervous_system
COSM3304590	c.1082C>T	p.T361I	Substitution - Missense	Breast
COSM4162022	c.1131A>T	p.P377P	Substitution - coding silent	Thyroid
COSM4909142	c.1050G>A	p.P350P	Substitution - coding silent	Large_intestine
COSM1179107	c.851G>A	p.R284Q	Substitution - Missense	Soft_tissue
COSM1581246	c.6965T>C	p.V2322A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM382943	c.2403T>G	p.P801P	Substitution - coding silent	Lung
COSM173074	c.11035G>A	p.E3679K	Substitution - Missense	Kidney
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Central_nervous_system
COSM4448694	c.1185-1G>A	p.?	Unknown	Skin
COSM254824	c.12221G>T	p.G4074V	Substitution - Missense	Skin
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Soft_tissue
COSM3879504	c.13800C>T	p.C4600C	Substitution - coding silent	Stomach
COSM4384346	c.2619delG	p.Q873fs*40	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4765977	c.8391_8392insA	p.E2798fs*11	Insertion - Frameshift	Skin
COSM5808405	c.5122A>G	p.K1708E	Substitution - Missense	Liver
COSM1179107	c.851G>A	p.R284Q	Substitution - Missense	Central_nervous_system
COSM4936675	c.8946T>G	p.V2982V	Substitution - coding silent	Liver
COSM308288	c.250G>T	p.E84*	Substitution - Nonsense	Biliary_tract
COSM4504688	c.6727C>T	p.L2243F	Substitution - Missense	Skin
COSM348112	c.14270C>G	p.S4757C	Substitution - Missense	Lung
COSM3832368	c.4174C>T	p.Q1392*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4384336	c.4870G>A	p.G1624R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1312881	c.2758G>T	p.V920L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM452736	c.1897delG	p.E633fs*2	Deletion - Frameshift	Breast
COSM2153783	c.12900T>A	p.S4300S	Substitution - coding silent	Central_nervous_system
COSM216777	c.5065G>T	p.E1689*	Substitution - Nonsense	Prostate
COSM328978	c.8390delA	p.K2797fs*26	Deletion - Frameshift	Stomach
COSM3923204	c.2905G>A	p.G969R	Substitution - Missense	Soft_tissue
COSM3636515	c.4784C>T	p.P1595L	Substitution - Missense	Skin
COSM136645	c.13996C>G	p.L4666V	Substitution - Missense	Skin
COSM4162018	c.2315C>T	p.S772L	Substitution - Missense	Upper_aerodigestive_tract
COSM1087645	c.2522G>A	p.R841Q	Substitution - Missense	Endometrium
COSM4162008	c.2578C>T	p.P860S	Substitution - Missense	Lung
COSM4384354	c.1915G>T	p.G639C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5895178	c.162-6_162-5insT	p.?	Unknown	Upper_aerodigestive_tract
COSM345946	c.3709C>T	p.R1237*	Substitution - Nonsense	Lung
COSM1316715	c.14405G>T	p.G4802V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5009115	c.12323G>A	p.R4108Q	Substitution - Missense	Large_intestine
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Soft_tissue
COSM5997729	c.6746C>A	p.P2249H	Substitution - Missense	Prostate
COSM3636529	c.2417C>T	p.S806F	Substitution - Missense	Skin
COSM4702488	c.10383T>G	p.D3461E	Substitution - Missense	Large_intestine
COSM249560	c.5053G>T	p.A1685S	Substitution - Missense	Kidney
COSM4384358	c.1764G>T	p.Q588H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4384320	c.9530G>A	p.R3177H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1635198	c.2185A>G	p.N729D	Substitution - Missense	Thyroid
COSM216051	c.4351G>C	p.D1451H	Substitution - Missense	Central_nervous_system
COSM1179669	c.943G>A	p.G315S	Substitution - Missense	Prostate
COSM4601947	c.4840T>A	p.S1614T	Substitution - Missense	Upper_aerodigestive_tract
COSM5024982	c.10344delG	p.S3449fs*18	Deletion - Frameshift	Breast
COSM3304380	c.2725A>G	p.R909G	Substitution - Missense	Thyroid
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Central_nervous_system
COSM3950211	c.443G>T	p.G148V	Substitution - Missense	Lung
COSM4381931	c.943G>T	p.G315C	Substitution - Missense	Oesophagus
COSM4590380	c.7443A>T	p.R2481S	Substitution - Missense	Upper_aerodigestive_tract
COSM4590380	c.7443A>T	p.R2481S	Substitution - Missense	Upper_aerodigestive_tract
COSM4162024	c.946A>T	p.T316S	Substitution - Missense	Upper_aerodigestive_tract
COSM87213	c.10840_10842delGAT	p.D3614del	Deletion - In frame	Central_nervous_system
COSM100082	c.8390_8390delA	p.K2797fs*26	Deletion - Frameshift	Large_intestine
COSM328978	c.8390delA	p.K2797fs*26	Deletion - Frameshift	Skin
COSM3950205	c.7443-6T>A	p.?	Unknown	Lung
COSM1673712	c.5380C>G	p.L1794V	Substitution - Missense	Ovary
COSM3411827	c.4377A>G	p.S1459S	Substitution - coding silent	Central_nervous_system
COSM5721127	c.5475C>T	p.F1825F	Substitution - coding silent	Skin
COSM5601817	c.13836C>T	p.V4612V	Substitution - coding silent	Skin
COSM3262552	c.10588delT	p.S3530fs*3	Deletion - Frameshift	Large_intestine
COSM126808	c.10880C>G	p.S3627*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Central_nervous_system
COSM396785	c.2674G>A	p.G892R	Substitution - Missense	Skin
COSM1087607	c.4727C>A	p.S1576Y	Substitution - Missense	Endometrium
COSM1180098	c.1005T>A	p.P335P	Substitution - coding silent	Soft_tissue
COSM4161998	c.2726G>A	p.R909K	Substitution - Missense	Upper_aerodigestive_tract
COSM3879500	c.14243C>T	p.A4748V	Substitution - Missense	Stomach
COSM4162000	c.2706G>A	p.S902S	Substitution - coding silent	Upper_aerodigestive_tract
COSM5801005	c.4523_4524insA	p.L1509fs*3	Insertion - Frameshift	Breast
COSM4834154	c.3923C>G	p.S1308*	Substitution - Nonsense	Cervix
COSM5798864	c.7788G>T	p.R2596R	Substitution - coding silent	Breast
COSM1087605	c.4814A>T	p.N1605I	Substitution - Missense	Endometrium
COSM3733336	c.2263C>T	p.Q755*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM452728	c.2379G>A	p.S793S	Substitution - coding silent	Central_nervous_system
COSM362597	c.2507C>G	p.S836C	Substitution - Missense	Lung
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Upper_aerodigestive_tract
COSM452746	c.401G>A	p.C134Y	Substitution - Missense	Breast
COSM4587277	c.1017G>C	p.K339N	Substitution - Missense	Upper_aerodigestive_tract
COSM3832366	c.5135C>G	p.S1712*	Substitution - Nonsense	Breast
COSM150428	c.2958A>G	p.P986P	Substitution - coding silent	Soft_tissue
COSM5561638	c.4539A>T	p.P1513P	Substitution - coding silent	Prostate
COSM452718	c.3840A>G	p.P1280P	Substitution - coding silent	Breast
COSM3636493	c.7336C>T	p.P2446S	Substitution - Missense	Skin
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Central_nervous_system
COSM3636555	c.948C>A	p.T316T	Substitution - coding silent	Skin
COSM230133	c.1173C>A	p.C391*	Substitution - Nonsense	Central_nervous_system
COSM3832370	c.3652C>T	p.Q1218*	Substitution - Nonsense	Breast
COSM1581246	c.6965T>C	p.V2322A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5984222	c.12274G>A	p.E4092K	Substitution - Missense	Upper_aerodigestive_tract
COSM5358181	c.6519A>G	p.P2173P	Substitution - coding silent	Large_intestine
COSM33632	c.3842-11_3870del40	p.?	Unknown	Large_intestine
COSM5452182	c.11355_11356insA	p.S3786fs*10	Insertion - Frameshift	Large_intestine
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Central_nervous_system
COSM4770500	c.11594C>G	p.S3865*	Substitution - Nonsense	Breast
COSM4702484	c.11409C>T	p.D3803D	Substitution - coding silent	Large_intestine
COSM1087507	c.14121T>C	p.G4707G	Substitution - coding silent	Endometrium
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Prostate
COSM3674876	c.6779C>G	p.A2260G	Substitution - Missense	Prostate
COSM5008239	c.10G>A	p.E4K	Substitution - Missense	Large_intestine
COSM150428	c.2958A>G	p.P986P	Substitution - coding silent	Soft_tissue
COSM308280	c.9934C>T	p.Q3312*	Substitution - Nonsense	Biliary_tract
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Central_nervous_system
COSM1329948	c.11241C>T	p.N3747N	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM3923214	c.919C>T	p.H307Y	Substitution - Missense	Skin
COSM86082	c.2418C>G	p.S806S	Substitution - coding silent	Soft_tissue
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Large_intestine
COSM218910	c.12507_12508delAT	p.F4170fs*11	Deletion - Frameshift	Pancreas
COSM100082	c.8390_8390delA	p.K2797fs*26	Deletion - Frameshift	Large_intestine
COSM3304610	c.1014G>A	p.S338S	Substitution - coding silent	Large_intestine
COSM5912634	c.3239C>T	p.P1080L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Central_nervous_system
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Upper_aerodigestive_tract
COSM4591023	c.871C>T	p.L291F	Substitution - Missense	Upper_aerodigestive_tract
COSM3879529	c.10852T>A	p.S3618T	Substitution - Missense	Stomach
COSM1087659	c.947C>G	p.T316S	Substitution - Missense	Prostate
COSM4161998	c.2726G>A	p.R909K	Substitution - Missense	Upper_aerodigestive_tract
COSM4884480	c.12183T>G	p.T4061T	Substitution - coding silent	Upper_aerodigestive_tract
COSM5575840	c.14242G>A	p.A4748T	Substitution - Missense	Stomach
COSM5744572	c.13G>T	p.E5*	Substitution - Nonsense	Small_intestine
COSM5446319	c.2446_2447insA	p.Y816fs*1	Insertion - Frameshift	Thyroid
COSM4162024	c.946A>T	p.T316S	Substitution - Missense	Upper_aerodigestive_tract
COSM3394622	c.9923C>A	p.P3308Q	Substitution - Missense	Pancreas
COSM4606482	c.2459C>T	p.T820I	Substitution - Missense	Large_intestine
COSM4162016	c.2352C>A	p.S784S	Substitution - coding silent	Thyroid
COSM253767	c.2959T>C	p.Y987H	Substitution - Missense	Soft_tissue
COSM4992928	c.8080C>T	p.P2694S	Substitution - Missense	Skin
COSM5348003	c.9634delC	p.L3212fs*37	Deletion - Frameshift	Liver
COSM1312889	c.2080C>T	p.L694F	Substitution - Missense	Urinary_tract
COSM206276	c.1966G>A	p.V656I	Substitution - Missense	Prostate
COSM3304074	c.9142C>T	p.L3048L	Substitution - coding silent	Skin
COSM150426	c.2963G>T	p.C988F	Substitution - Missense	Upper_aerodigestive_tract
COSM461644	c.10021C>A	p.P3341T	Substitution - Missense	Cervix
COSM1312883	c.2698G>T	p.G900*	Substitution - Nonsense	Urinary_tract
COSM1673708	c.7544G>A	p.R2515K	Substitution - Missense	Central_nervous_system
COSM3879602	c.1225T>C	p.C409R	Substitution - Missense	Stomach
COSM4162018	c.2315C>T	p.S772L	Substitution - Missense	Upper_aerodigestive_tract
COSM4610746	c.2680C>T	p.R894W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM86082	c.2418C>G	p.S806S	Substitution - coding silent	Kidney
COSM308284	c.441A>T	p.Q147H	Substitution - Missense	Biliary_tract
COSM4587277	c.1017G>C	p.K339N	Substitution - Missense	Upper_aerodigestive_tract
COSM4603590	c.2448_2449insA	p.I817fs*11	Insertion - Frameshift	Upper_aerodigestive_tract
COSM5583768	c.10511C>G	p.T3504S	Substitution - Missense	Skin
COSM1087523	c.13000C>T	p.R4334W	Substitution - Missense	Large_intestine
COSM1087625	c.3523G>A	p.D1175N	Substitution - Missense	Endometrium
COSM745867	c.5803C>T	p.P1935S	Substitution - Missense	Lung
COSM1087540	c.11455G>T	p.G3819*	Substitution - Nonsense	Endometrium
COSM3698284	c.9841A>G	p.M3281V	Substitution - Missense	Large_intestine
COSM5014774	c.5233T>A	p.S1745T	Substitution - Missense	Kidney
COSM5752272	c.13053delA	p.K4351fs*5	Deletion - Frameshift	Breast
COSM1179671	c.925C>T	p.P309S	Substitution - Missense	Upper_aerodigestive_tract
COSM4162008	c.2578C>T	p.P860S	Substitution - Missense	Thyroid
COSM5358365	c.10863T>G	p.A3621A	Substitution - coding silent	Large_intestine
COSM4821191	c.9733C>T	p.Q3245*	Substitution - Nonsense	Cervix
COSM100082	c.8390_8390delA	p.K2797fs*26	Deletion - Frameshift	Large_intestine
COSM4767629	c.2729C>G	p.S910*	Substitution - Nonsense	Biliary_tract
COSM85094	c.6601G>C	p.D2201H	Substitution - Missense	Pancreas
COSM5463610	c.3842-5G>A	p.?	Unknown	Large_intestine
COSM75426	c.10040A>G	p.N3347S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM223219	c.11020G>A	p.G3674S	Substitution - Missense	Skin
COSM3879519	c.11787A>C	p.K3929N	Substitution - Missense	Stomach
COSM4162018	c.2315C>T	p.S772L	Substitution - Missense	Upper_aerodigestive_tract
COSM216777	c.5065G>T	p.E1689*	Substitution - Nonsense	Pancreas
COSM4762641	c.3999A>T	p.E1333D	Substitution - Missense	Stomach
COSM4461538	c.12108C>T	p.I4036I	Substitution - coding silent	Skin
COSM5997325	c.6868G>T	p.V2290F	Substitution - Missense	Prostate

> Text Mining based Variations

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PMID	Variation	Cancer	Evidence
27405564	Mutation	Acute Myeloid Leukemia; Colorectal Carcinoma	DNA methylation status in the four cases, which all harbor a MLL3 germline mutation, differed from that of the normal control, and hypermethylation was more prevalent.
26880370	Mutation	Leukema	Interestingly, NGS revealed nonsense mutations accompanied by loss of heterozygosity (LOH) in TET2 and MLL3, which was further confirmed by cloning and direct sequencing of DNA from uncultured cells.
26431491	Mutation	Endometrial Carcinomas	Basal-like subgroup was enriched for aggressive tumors with higher pathological grade (p < 0.0001), TNM stage (p = 0.01), and somatic mutations in trithorax-group genes (MLL, MLL2 and MLL3); and it overexpressed polycomb genes EZH2 and CBX2.
25275298	Mutation	Head and Neck Squamous Cell Carcinoma	This analysis also revealed that most HNSCC cells harbor multiple mutations and CNVs in epigenetic modifiers (e.g., EP300, CREBP, MLL1, MLL2, MLL3, KDM6A, and KDM6B) that may contribute to HNSCC initiation and progression.
24965397	Mutation	Gastric Carcinoma	In the present study, we identified a novel missense mutation in MLL3 gene (S3660L) by directly sequencing method in 48 gastric cancer patients. We concluded that this novel missense (S3660L) mutation in MLL3 gene is likely to increase the gastric cancer risk.
24744582	Mutation	Gastric Carcinoma	Mutations in chromatin remodeling genes (ARID1A, MLL3 and MLL) have been found in 47% of GCs.
24379610	Mutation	Hepatocellular Carcinoma	High-throughput short-read sequencing of exomes and whole cancer genomes in multiple human hepatocellular carcinoma (HCC) cohorts confirmed previously identified frequently mutated somatic genes, such as TP53, CTNNB1 and AXIN1, and identified several novel genes with moderate mutation frequencies, including ARID1A, ARID2, MLL, MLL2, MLL3, MLL4, IRF2, ATM, CDKN2A, FGF19, PIK3CA, RPS6KA3, JAK1, KEAP1, NFE2L2, C16orf62, LEPR, RAC2, and IL6ST.
23259788	Loss of Expression (mutation)	Gastric Carcinoma; Colorectal Carcinoma	We found MLL, MLL2, MLL3 and MLL5 frameshift mutations in two (one GC and one CRC), three (one GC and two CRC), 17 (14 GC and three CRC) and six (four GC and two CRC) cancers, respectively. All of the cancers with MLL3 mutations showed loss of MLL3 expression, and their values were significantly lower than in those without MLL3 mutation (50.9%).
22484628	Mutation	Gastric Carcinoma	Frequent mutations in chromatin remodeling genes (ARID1A, MLL3 and MLL) also occurred in 47% of the gastric cancers.
22421440	Mutation	Pancreatic Carcinoma	Using two independent statistical methods to identify loci commonly mutated by SB in these tumors, we identified 681 loci that comprise 543 candidate cancer genes (CCGs); 75 of these CCGs, including Mll3 and Ptk2, have known mutations in human pancreatic cancer.
21853109	Mutation	Colorectal Carcinoma	We found two isoforms of MLL3 and DNA sequencing revealed frameshift and other mutations affecting both isoforms of MLL3 in colorectal cancer cells and 19 of 134 (14%) primary colorectal samples analyzed.
21116761	Mutation	Breast Carcinoma	In this study, we sequenced all 59 exons of MLL3 (14.7 Kb coding sequence) in 38 breast cancers from Chinese women, and found three somatic mutations in two of the cases, including one frameshift mutation (c.2687 ins A) that truncates the majority of the MLL3 protein, and two synonymous mutations.
28569218	Mutation (loss of function)	Breast Carcinoma	Furthermore, we detected 183 variants that overlap with somatic mutations in cancer and 41 variants associated with 38 possible loss-of-function genes, including PIK3CB and KMT2C.
28548470	Mutation	Acute Lymphoblastic Leukemia	A total of 86 variants were located in leukaemia-related genes of which 32 variants were located in the coding regions of GLI2, SP140, GATA2, SMAD5, KMT2C, CDH17, CDX2, FLT3, PML and MOV10L1.
28548470	Mutation	Colorectal Carcinoma	Recurrent mutations in ARID1A (44%), SMARCA4 (17%), MLL2 (44%), MLL3 (67%), SETD2 (17%) and TET2 (50%) genes involved in histone modification and chromatin remodelling were identified in UCHR subjects.
27997699	Mutation	Endometrial Carcinoma	For the first time, we show that mutations in chromatin remodelling-related genes (KMT2D, KMT2C, SETD1B and BCOR) and in DNA-repair-related genes (BRCA1, BRCA2, RAD50 and CHD4) are frequent in this subtype of endometrial cancer.
27904775	Mutation	Bilateral Breast Carcinoma	Mutations were present in 80 tumors (54/76 patients; 71%), were mostly tumor-private (90%), more frequent in TP53 (19%), PIK3CA (14%), CDH1, GATA3, MLL3.
27270441	Mutation	Bladder Carcinoma	Non-silent sequence alterations were confirmed in 76 cancer-associated genes, including mutations that likely activate oncogenes TERT and PIK3CA, and alter chromatin-associated proteins (MLL3, ARID1A, CHD6 and KDM6A) and established BCa genes (TP53, RB1, CDKN2A and TSC1).

Summary
Symbol	KMT2C
Name	lysine methyltransferase 2C
Aliases	KIAA1506; HALR; MLL3; myeloid/lymphoid or mixed-lineage leukemia 3; ALR-like protein; histone-lysine N-methy ......
Location	7q36.1
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
Q8NEZ4	46	S	Phosphoserine	-	No	None detected
Q8NEZ4	89	S	Phosphoserine	-	No	None detected
Q8NEZ4	113	S	Phosphoserine	-	No	None detected
Q8NEZ4	200	S	Phosphoserine	-	No	None detected
Q8NEZ4	758	K	N6-acetyllysine	-	No	None detected
Q8NEZ4	854	S	Phosphoserine	-	No	None detected
Q8NEZ4	1301	S	Phosphoserine	-	No	None detected
Q8NEZ4	1508	K	N6-acetyllysine	-	No	None detected
Q8NEZ4	1772	K	N6-acetyllysine	-	No	None detected
Q8NEZ4	1987	S	Phosphoserine	-	No	None detected
Q8NEZ4	2009	K	N6-acetyllysine	-	No	None detected
Q8NEZ4	2454	R	Asymmetric dimethylarginine	-	Yes	p.R2454T (cancer: BLCA); p.R2454K (cancer: UCEC)
Q8NEZ4	2571	R	Asymmetric dimethylarginine	-	No	None detected
Q8NEZ4	2802	K	N6-acetyllysine	-	No	None detected
Q8NEZ4	2809	K	N6-acetyllysine	-	Yes	p.K2809fs (cancer: BLCA)
Q8NEZ4	2828	S	Phosphoserine	-	No	None detected
Q8NEZ4	2832	K	N6-acetyllysine	-	No	None detected
Q8NEZ4	2867	K	N6-acetyllysine	-	Yes	p.K2867fs (cancer: COAD); p.K2867E (cancer: COAD)
Q8NEZ4	3714	K	N6-acetyllysine	-	No	None detected
Q8NEZ4	3758	S	Phosphoserine	-	No	None detected
Q8NEZ4	4034	S	Phosphoserine	-	No	None detected
Q8NEZ4	4139	R	Asymmetric dimethylarginine	-	Yes	p.R4139* (cancer: HNSC)
Q8NEZ4	4267	S	Phosphoserine	-	No	None detected

Summary
Symbol	KMT2C
Name	lysine methyltransferase 2C
Aliases	KIAA1506; HALR; MLL3; myeloid/lymphoid or mixed-lineage leukemia 3; ALR-like protein; histone-lysine N-methy ......
Location	7q36.1
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	6.408	5.932	-0.603	0.00071	Under
BRCA	Breast invasive carcinoma	112	1100	7.409	6.932	-0.433	3.55e-09	NS
CESC	Cervical and endocervical cancers	3	306	6.429	6.043	NA	NA	NA
COAD	Colon adenocarcinoma	41	459	6.486	6.074	-0.361	0.00104	NS
ESCA	Esophageal carcinoma	11	185	7.835	7.069	-0.773	0.000229	Under
GBM	Glioblastoma multiforme	5	166	6.784	6.484	NA	NA	NA
HNSC	Head and Neck squamous cell carcinoma	44	522	6.517	5.956	-0.581	4.51e-06	Under
KIRC	Kidney renal clear cell carcinoma	72	534	6.686	6.421	-0.23	0.000577	NS
KIRP	Kidney renal papillary cell carcinoma	32	291	6.468	6.436	-0.047	0.752	NS
LAML	Acute Myeloid Leukemia	0	173	NA	8.668	NA	NA	NA
LGG	Brain Lower Grade Glioma	0	530	NA	7.312	NA	NA	NA
LIHC	Liver hepatocellular carcinoma	50	373	5.165	4.977	-0.211	0.0636	NS
LUAD	Lung adenocarcinoma	59	517	6.689	6.558	-0.043	0.666	NS
LUSC	Lung squamous cell carcinoma	51	501	6.652	6.256	-0.411	1.49e-05	NS
OV	Ovarian serous cystadenocarcinoma	0	307	NA	6.839	NA	NA	NA
PAAD	Pancreatic adenocarcinoma	4	179	6.614	6.266	NA	NA	NA
PCPG	Pheochromocytoma and Paraganglioma	3	184	6.11	6.334	NA	NA	NA
PRAD	Prostate adenocarcinoma	52	498	6.772	6.608	-0.156	0.126	NS
READ	Rectum adenocarcinoma	10	167	6.376	6.108	-0.273	0.312	NS
SARC	Sarcoma	2	263	5.448	6.016	NA	NA	NA
SKCM	Skin Cutaneous Melanoma	1	472	5.691	6.187	NA	NA	NA
STAD	Stomach adenocarcinoma	35	415	7.05	6.96	-0.078	0.526	NS
TGCT	Testicular Germ Cell Tumors	0	156	NA	6.875	NA	NA	NA
THCA	Thyroid carcinoma	59	509	7.127	6.813	-0.251	0.000366	NS
THYM	Thymoma	2	120	6.896	6.132	NA	NA	NA
UCEC	Uterine Corpus Endometrial Carcinoma	35	546	6.66	6.179	-0.536	5.24e-05	NS

> Cancer Cell Line Encyclopedia (CCLE)

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Tissue	Cell Line	Expression Level (Microarray)
Autonomic ganglia	CHP126	9
Autonomic ganglia	CHP212	8
Autonomic ganglia	IMR32	8.5
Autonomic ganglia	KELLY	8.9
Autonomic ganglia	KPNRTBM1	9.1
Autonomic ganglia	KPNSI9S	7.9
Autonomic ganglia	KPNYN	8.8
Autonomic ganglia	MHHNB11	9.2
Autonomic ganglia	NB1	8.8
Autonomic ganglia	NH6	9.2
Autonomic ganglia	SHSY5Y	9.5
Autonomic ganglia	SIMA	8.6
Autonomic ganglia	SKNAS	8
Autonomic ganglia	SKNBE2	8.7
Autonomic ganglia	SKNDZ	8.2
Autonomic ganglia	SKNFI	8.5
Autonomic ganglia	SKNSH	8.1
Biliary tract	HUCCT1	7.3
Biliary tract	HUH28	7.1
Biliary tract	SNU1079	7.7
Biliary tract	SNU1196	8
Biliary tract	SNU245	8.3
Biliary tract	SNU308	7.9
Biliary tract	SNU478	8.3
Bone	143B	7.2
Bone	A673	8
Bone	CADOES1	8.4
Bone	CAL78	7.5
Bone	G292CLONEA141B1	6.7
Bone	HOS	7.1
Bone	HS706T	7.5
Bone	HS737T	7.6
Bone	HS819T	7.7
Bone	HS821T	7.7
Bone	HS822T	7.9
Bone	HS863T	7.4
Bone	HS870T	6.8
Bone	HS888T	8
Bone	MG63	7.2
Bone	MHHES1	8.4
Bone	OUMS27	7.9
Bone	RDES	8.4
Bone	SJSA1	7.6
Bone	SKES1	8.4
Bone	SKNMC	8.6
Bone	SW1353	8.3
Bone	T173	7.3
Bone	TC71	7.8
Bone	U2OS	6.4
Breast	AU565	9
Breast	BT20	8.6
Breast	BT474	9.4
Breast	BT483	10
Breast	BT549	7.4
Breast	CAL120	7.9
Breast	CAL148	9.2
Breast	CAL51	8.8
Breast	CAL851	6.7
Breast	CAMA1	8.7
Breast	DU4475	8.5
Breast	EFM192A	9
Breast	EFM19	8.9
Breast	EVSAT	8.5
Breast	HCC1143	6.8
Breast	HCC1187	8.5
Breast	HCC1395	8.4
Breast	HCC1419	8.6
Breast	HCC1428	8.9
Breast	HCC1500	8
Breast	HCC1569	8.4
Breast	HCC1599	8.2
Breast	HCC1806	6.8
Breast	HCC1937	8
Breast	HCC1954	8
Breast	HCC202	8.8
Breast	HCC2157	9.2
Breast	HCC2218	8.8
Breast	HCC38	7.9
Breast	HCC70	8.7
Breast	HDQP1	8.2
Breast	HMC18	7.2
Breast	HS274T	7.6
Breast	HS281T	7.8
Breast	HS343T	7.7
Breast	HS578T	7.9
Breast	HS606T	7.7
Breast	HS739T	7.8
Breast	HS742T	7.5
Breast	JIMT1	8.1
Breast	KPL1	8.7
Breast	MCF7	8.3
Breast	MDAMB134VI	8.7
Breast	MDAMB157	7.8
Breast	MDAMB175VII	8.5
Breast	MDAMB231	7.7
Breast	MDAMB361	8.3
Breast	MDAMB415	8.6
Breast	MDAMB436	6.7
Breast	MDAMB453	9
Breast	MDAMB468	7.4
Breast	SKBR3	9.1
Breast	T47D	8
Breast	UACC812	8.5
Breast	UACC893	8.5
Breast	YMB1	8.9
Breast	ZR751	8.3
Breast	ZR7530	9.1
Central nervous system	1321N1	7.7
Central nervous system	42MGBA	7.7
Central nervous system	8MGBA	7.7
Central nervous system	A172	7.3
Central nervous system	AM38	7.5
Central nervous system	BECKER	8.4
Central nervous system	CAS1	8.4
Central nervous system	CCFSTTG1	8.3
Central nervous system	D283MED	7
Central nervous system	D341MED	9
Central nervous system	DAOY	8
Central nervous system	DBTRG05MG	7.6
Central nervous system	DKMG	9
Central nervous system	GAMG	7.6
Central nervous system	GB1	8
Central nervous system	GI1	8.4
Central nervous system	GMS10	7.5
Central nervous system	GOS3	8.1
Central nervous system	H4	7.7
Central nervous system	HS683	8.1
Central nervous system	KALS1	8
Central nervous system	KG1C	8.2
Central nervous system	KNS42	8.3
Central nervous system	KNS60	7.8
Central nervous system	KNS81	8
Central nervous system	KS1	7.9
Central nervous system	LN18	8.3
Central nervous system	LN229	8.1
Central nervous system	M059K	7.6
Central nervous system	MOGGCCM	8.4
Central nervous system	MOGGUVW	7.7
Central nervous system	NMCG1	8.2
Central nervous system	ONS76	8.3
Central nervous system	SF126	7.3
Central nervous system	SF295	8
Central nervous system	SNB19	8.2
Central nervous system	SNU1105	8.3
Central nervous system	SNU201	8.2
Central nervous system	SNU466	8.4
Central nervous system	SNU489	7.9
Central nervous system	SNU626	8.6
Central nervous system	SNU738	7.4
Central nervous system	SW1088	8.4
Central nervous system	SW1783	8
Central nervous system	T98G	8.2
Central nervous system	TM31	7.6
Central nervous system	U118MG	7.6
Central nervous system	U138MG	8.1
Central nervous system	U251MG	8.4
Central nervous system	U87MG	8.1
Central nervous system	YH13	8.6
Central nervous system	YKG1	8.6
Endometrium	AN3CA	8.3
Endometrium	COLO684	8.8
Endometrium	EFE184	7.2
Endometrium	EN	7.9
Endometrium	ESS1	7.1
Endometrium	HEC108	8.1
Endometrium	HEC151	7.1
Endometrium	HEC1A	7.7
Endometrium	HEC1B	7.7
Endometrium	HEC251	7.6
Endometrium	HEC265	7.7
Endometrium	HEC50B	7.7
Endometrium	HEC59	8.4
Endometrium	HEC6	7.9
Endometrium	ISHIKAWAHERAKLIO02ER	7.9
Endometrium	JHUEM1	8.2
Endometrium	JHUEM2	8
Endometrium	JHUEM3	8
Endometrium	KLE	6.2
Endometrium	MFE280	7.6
Endometrium	MFE296	7.3
Endometrium	MFE319	7.4
Endometrium	RL952	7.8
Endometrium	SNGM	7.2
Endometrium	SNU1077	8.3
Endometrium	SNU685	7.8
Endometrium	TEN	8.8
Haematopoietic and lymphoid	697	8.5
Haematopoietic and lymphoid	A3KAW	8.5
Haematopoietic and lymphoid	A4FUK	8.8
Haematopoietic and lymphoid	ALLSIL	8.7
Haematopoietic and lymphoid	AML193	8.9
Haematopoietic and lymphoid	AMO1	8.4
Haematopoietic and lymphoid	BCP1	8.3
Haematopoietic and lymphoid	BDCM	8.2
Haematopoietic and lymphoid	BL41	9.7
Haematopoietic and lymphoid	BL70	9.8
Haematopoietic and lymphoid	BV173	8.7
Haematopoietic and lymphoid	CA46	9.6
Haematopoietic and lymphoid	CI1	8.5
Haematopoietic and lymphoid	CMK115	8.2
Haematopoietic and lymphoid	CMK86	8.7
Haematopoietic and lymphoid	CMK	8.1
Haematopoietic and lymphoid	CMLT1	8.1
Haematopoietic and lymphoid	COLO775	8.6
Haematopoietic and lymphoid	DAUDI	9.2
Haematopoietic and lymphoid	DB	9.2
Haematopoietic and lymphoid	DEL	8.7
Haematopoietic and lymphoid	DND41	8.4
Haematopoietic and lymphoid	DOHH2	9.6
Haematopoietic and lymphoid	EB1	8.7
Haematopoietic and lymphoid	EB2	9.3
Haematopoietic and lymphoid	EHEB	8.5
Haematopoietic and lymphoid	EJM	9.1
Haematopoietic and lymphoid	EM2	8.5
Haematopoietic and lymphoid	EOL1	8.4
Haematopoietic and lymphoid	F36P	8.4
Haematopoietic and lymphoid	GA10	8.4
Haematopoietic and lymphoid	GDM1	8.4
Haematopoietic and lymphoid	GRANTA519	8.7
Haematopoietic and lymphoid	HDLM2	8.3
Haematopoietic and lymphoid	HDMYZ	7.9
Haematopoietic and lymphoid	HEL9217	7.7
Haematopoietic and lymphoid	HEL	7.9
Haematopoietic and lymphoid	HH	8.2
Haematopoietic and lymphoid	HL60	9.3
Haematopoietic and lymphoid	HPBALL	8.7
Haematopoietic and lymphoid	HS604T	7.8
Haematopoietic and lymphoid	HS611T	8.4
Haematopoietic and lymphoid	HS616T	7.5
Haematopoietic and lymphoid	HS751T	7.4
Haematopoietic and lymphoid	HT	8.7
Haematopoietic and lymphoid	HTK	6.7
Haematopoietic and lymphoid	HUNS1	7
Haematopoietic and lymphoid	HUT102	8.2
Haematopoietic and lymphoid	HUT78	8.4
Haematopoietic and lymphoid	JEKO1	8.6
Haematopoietic and lymphoid	JK1	9
Haematopoietic and lymphoid	JM1	8.9
Haematopoietic and lymphoid	JURKAT	8
Haematopoietic and lymphoid	JURLMK1	7.7
Haematopoietic and lymphoid	JVM2	8.9
Haematopoietic and lymphoid	JVM3	8.8
Haematopoietic and lymphoid	K562	8.2
Haematopoietic and lymphoid	KARPAS299	7.9
Haematopoietic and lymphoid	KARPAS422	9
Haematopoietic and lymphoid	KARPAS620	9.3
Haematopoietic and lymphoid	KASUMI1	8.8
Haematopoietic and lymphoid	KASUMI2	9
Haematopoietic and lymphoid	KASUMI6	8.7
Haematopoietic and lymphoid	KCL22	8.1
Haematopoietic and lymphoid	KE37	8.5
Haematopoietic and lymphoid	KE97	8.1
Haematopoietic and lymphoid	KG1	8.8
Haematopoietic and lymphoid	KHM1B	9
Haematopoietic and lymphoid	KIJK	8.2
Haematopoietic and lymphoid	KMH2	10
Haematopoietic and lymphoid	KMM1	8.2
Haematopoietic and lymphoid	KMS11	9.1
Haematopoietic and lymphoid	KMS12BM	9.4
Haematopoietic and lymphoid	KMS18	8.6
Haematopoietic and lymphoid	KMS20	8.1
Haematopoietic and lymphoid	KMS21BM	8.3
Haematopoietic and lymphoid	KMS26	8.1
Haematopoietic and lymphoid	KMS27	7.8
Haematopoietic and lymphoid	KMS28BM	9.2
Haematopoietic and lymphoid	KMS34	9.1
Haematopoietic and lymphoid	KO52	8.1
Haematopoietic and lymphoid	KOPN8	8
Haematopoietic and lymphoid	KU812	8.4
Haematopoietic and lymphoid	KYO1	7.6
Haematopoietic and lymphoid	L1236	7.7
Haematopoietic and lymphoid	L363	10
Haematopoietic and lymphoid	L428	9.1
Haematopoietic and lymphoid	L540	8.9
Haematopoietic and lymphoid	LAMA84	7.9
Haematopoietic and lymphoid	LOUCY	8.7
Haematopoietic and lymphoid	LP1	9
Haematopoietic and lymphoid	M07E	8.7
Haematopoietic and lymphoid	MC116	8.5
Haematopoietic and lymphoid	ME1	8
Haematopoietic and lymphoid	MEC1	8.5
Haematopoietic and lymphoid	MEC2	8.4
Haematopoietic and lymphoid	MEG01	7.9
Haematopoietic and lymphoid	MHHCALL2	9
Haematopoietic and lymphoid	MHHCALL3	9
Haematopoietic and lymphoid	MHHCALL4	9.1
Haematopoietic and lymphoid	MINO	9.3
Haematopoietic and lymphoid	MJ	7.8
Haematopoietic and lymphoid	MM1S	9.1
Haematopoietic and lymphoid	MOLM13	8.3
Haematopoietic and lymphoid	MOLM16	8.8
Haematopoietic and lymphoid	MOLM6	8.2
Haematopoietic and lymphoid	MOLP2	8.8
Haematopoietic and lymphoid	MOLP8	8.7
Haematopoietic and lymphoid	MOLT13	8.7
Haematopoietic and lymphoid	MOLT16	9.3
Haematopoietic and lymphoid	MOLT4	8.5
Haematopoietic and lymphoid	MONOMAC1	8.5
Haematopoietic and lymphoid	MONOMAC6	8.5
Haematopoietic and lymphoid	MOTN1	8.2
Haematopoietic and lymphoid	MUTZ5	8.8
Haematopoietic and lymphoid	MV411	8.8
Haematopoietic and lymphoid	NALM19	8.3
Haematopoietic and lymphoid	NALM1	9.1
Haematopoietic and lymphoid	NALM6	8.2
Haematopoietic and lymphoid	NAMALWA	9.4
Haematopoietic and lymphoid	NB4	9.2
Haematopoietic and lymphoid	NCIH929	8.2
Haematopoietic and lymphoid	NCO2	8.4
Haematopoietic and lymphoid	NOMO1	7.8
Haematopoietic and lymphoid	NUDHL1	8.2
Haematopoietic and lymphoid	NUDUL1	8.8
Haematopoietic and lymphoid	OCIAML2	8.5
Haematopoietic and lymphoid	OCIAML3	9.1
Haematopoietic and lymphoid	OCIAML5	8.1
Haematopoietic and lymphoid	OCILY10	8.1
Haematopoietic and lymphoid	OCILY19	8.5
Haematopoietic and lymphoid	OCILY3	8
Haematopoietic and lymphoid	OCIM1	8
Haematopoietic and lymphoid	OPM2	9.6
Haematopoietic and lymphoid	P12ICHIKAWA	8.5
Haematopoietic and lymphoid	P31FUJ	7.9
Haematopoietic and lymphoid	P3HR1	8.4
Haematopoietic and lymphoid	PCM6	8.9
Haematopoietic and lymphoid	PEER	8.8
Haematopoietic and lymphoid	PF382	8.6
Haematopoietic and lymphoid	PFEIFFER	8.2
Haematopoietic and lymphoid	PL21	8.6
Haematopoietic and lymphoid	RAJI	8.4
Haematopoietic and lymphoid	RCHACV	8.5
Haematopoietic and lymphoid	REC1	8.7
Haematopoietic and lymphoid	REH	7.9
Haematopoietic and lymphoid	RI1	8.5
Haematopoietic and lymphoid	RL	8.8
Haematopoietic and lymphoid	RPMI8226	8.6
Haematopoietic and lymphoid	RPMI8402	8.1
Haematopoietic and lymphoid	RS411	8.7
Haematopoietic and lymphoid	SEM	8.5
Haematopoietic and lymphoid	SET2	7.7
Haematopoietic and lymphoid	SIGM5	8.5
Haematopoietic and lymphoid	SKM1	8.6
Haematopoietic and lymphoid	SKMM2	8.5
Haematopoietic and lymphoid	SR786	7.9
Haematopoietic and lymphoid	ST486	8.9
Haematopoietic and lymphoid	SUDHL10	8.9
Haematopoietic and lymphoid	SUDHL1	7.9
Haematopoietic and lymphoid	SUDHL4	8.8
Haematopoietic and lymphoid	SUDHL5	8.7
Haematopoietic and lymphoid	SUDHL6	9
Haematopoietic and lymphoid	SUDHL8	8.6
Haematopoietic and lymphoid	SUPB15	8.4
Haematopoietic and lymphoid	SUPHD1	9
Haematopoietic and lymphoid	SUPM2	7.6
Haematopoietic and lymphoid	SUPT11	8.7
Haematopoietic and lymphoid	SUPT1	9
Haematopoietic and lymphoid	TALL1	8.9
Haematopoietic and lymphoid	TF1	7
Haematopoietic and lymphoid	THP1	8.4
Haematopoietic and lymphoid	TO175T	7.6
Haematopoietic and lymphoid	TOLEDO	9
Haematopoietic and lymphoid	U266B1	8
Haematopoietic and lymphoid	U937	8.3
Haematopoietic and lymphoid	UT7	8.6
Haematopoietic and lymphoid	WSUDLCL2	9
Kidney	769P	7.7
Kidney	786O	7.9
Kidney	A498	8
Kidney	A704	7.7
Kidney	ACHN	7.7
Kidney	BFTC909	8.1
Kidney	CAKI1	8
Kidney	CAKI2	6.4
Kidney	CAL54	7.8
Kidney	KMRC1	7.2
Kidney	KMRC20	9.1
Kidney	KMRC2	7.2
Kidney	KMRC3	7.9
Kidney	OSRC2	8
Kidney	RCC10RGB	8.3
Kidney	SNU1272	7.5
Kidney	SNU349	7.7
Kidney	TUHR10TKB	8
Kidney	TUHR14TKB	8.6
Kidney	TUHR4TKB	7.7
Kidney	VMRCRCW	8
Kidney	VMRCRCZ	8.3
Large intestine	C2BBE1	8.1
Large intestine	CCK81	7.7
Large intestine	CL11	9
Large intestine	CL14	8.2
Large intestine	CL34	8.3
Large intestine	CL40	7.6
Large intestine	COLO205	7.8
Large intestine	COLO320	8.8
Large intestine	COLO678	8.7
Large intestine	CW2	8
Large intestine	DLD1	8.1
Large intestine	GP2D	7.9
Large intestine	HCC56	8.6
Large intestine	HCT116	6.6
Large intestine	HCT15	8.1
Large intestine	HS675T	7.2
Large intestine	HS698T	7.4
Large intestine	HT115	7.9
Large intestine	HT29	8.4
Large intestine	HT55	8.5
Large intestine	KM12	8.2
Large intestine	LOVO	8.3
Large intestine	LS1034	8.1
Large intestine	LS123	7.8
Large intestine	LS180	7.9
Large intestine	LS411N	7.4
Large intestine	LS513	8
Large intestine	MDST8	7.7
Large intestine	NCIH508	8.6
Large intestine	NCIH716	8.9
Large intestine	NCIH747	8.2
Large intestine	OUMS23	8.4
Large intestine	RCM1	8.2
Large intestine	RKO	7.9
Large intestine	SKCO1	8.9
Large intestine	SNU1040	8.3
Large intestine	SNU1197	8
Large intestine	SNU175	8.4
Large intestine	SNU283	8.5
Large intestine	SNU407	7.7
Large intestine	SNU503	7.9
Large intestine	SNU61	8.3
Large intestine	SNU81	8.4
Large intestine	SNUC1	8.4
Large intestine	SNUC2A	8
Large intestine	SNUC4	7.6
Large intestine	SNUC5	7.9
Large intestine	SW1116	8.5
Large intestine	SW1417	8.3
Large intestine	SW1463	8.1
Large intestine	SW403	8.4
Large intestine	SW480	7.1
Large intestine	SW48	8.2
Large intestine	SW620	8.5
Large intestine	SW837	8.1
Large intestine	SW948	8.7
Large intestine	T84	7.9
Liver	ALEXANDERCELLS	7
Liver	C3A	7.2
Liver	HEP3B217	7.8
Liver	HEPG2	7.4
Liver	HLE	6.3
Liver	HLF	6.9
Liver	HUH1	7.5
Liver	HUH6	7.6
Liver	HUH7	7.7
Liver	JHH1	8.5
Liver	JHH2	8.3
Liver	JHH4	7.6
Liver	JHH5	7.7
Liver	JHH6	7.8
Liver	JHH7	7.5
Liver	LI7	7.6
Liver	PLCPRF5	7.3
Liver	SKHEP1	7.6
Liver	SNU182	7.5
Liver	SNU387	8
Liver	SNU398	8.4
Liver	SNU423	7.8
Liver	SNU449	7.9
Liver	SNU475	8.2
Liver	SNU761	7.8
Liver	SNU878	7.2
Liver	SNU886	8.2
Lung	A549	7
Lung	ABC1	7.8
Lung	BEN	9.3
Lung	CAL12T	6.9
Lung	CALU1	7.3
Lung	CALU3	7.8
Lung	CALU6	7.8
Lung	CHAGOK1	8.4
Lung	COLO668	8.6
Lung	COLO699	8.8
Lung	CORL105	8.1
Lung	CORL23	7.3
Lung	CORL24	9.2
Lung	CORL279	8.9
Lung	CORL311	8.7
Lung	CORL47	8.5
Lung	CORL51	8.6
Lung	CORL88	8.7
Lung	CORL95	8.9
Lung	CPCN	9
Lung	DMS114	8.2
Lung	DMS153	8.6
Lung	DMS273	8.2
Lung	DMS454	8.4
Lung	DMS53	8.5
Lung	DMS79	9.2
Lung	DV90	7.5
Lung	EBC1	7.8
Lung	EPLC272H	6.9
Lung	HARA	7.9
Lung	HCC1171	8.1
Lung	HCC1195	8.2
Lung	HCC15	8
Lung	HCC2279	7.4
Lung	HCC2935	9.3
Lung	HCC33	9.1
Lung	HCC366	7.5
Lung	HCC4006	8
Lung	HCC44	7.9
Lung	HCC78	8.2
Lung	HCC827	7.8
Lung	HCC95	7.7
Lung	HLC1	8
Lung	HLFA	7.7
Lung	HS229T	7.2
Lung	HS618T	7.6
Lung	IALM	8.3
Lung	KNS62	7.1
Lung	LC1F	8.3
Lung	LC1SQSF	7.8
Lung	LCLC103H	7.9
Lung	LCLC97TM1	8.9
Lung	LK2	7.5
Lung	LOUNH91	7.8
Lung	LU65	8.3
Lung	LU99	6.4
Lung	LUDLU1	9.1
Lung	LXF289	7.8
Lung	MORCPR	7.9
Lung	NCIH1048	8.3
Lung	NCIH1092	9.5
Lung	NCIH1105	9
Lung	NCIH1155	8.5
Lung	NCIH1184	9.1
Lung	NCIH1299	7.4
Lung	NCIH1339	6.8
Lung	NCIH1341	9.1
Lung	NCIH1355	6.9
Lung	NCIH1373	8.3
Lung	NCIH1385	9
Lung	NCIH1395	8
Lung	NCIH1435	8.5
Lung	NCIH1436	9.3
Lung	NCIH1437	8.4
Lung	NCIH146	8.1
Lung	NCIH1563	6.8
Lung	NCIH1568	7.5
Lung	NCIH1573	7.3
Lung	NCIH1581	8.6
Lung	NCIH1618	8.9
Lung	NCIH1623	8.2
Lung	NCIH1648	8.1
Lung	NCIH1650	7.7
Lung	NCIH1651	7.6
Lung	NCIH1666	7.9
Lung	NCIH1693	6.3
Lung	NCIH1694	9
Lung	NCIH1703	7.4
Lung	NCIH1734	8.1
Lung	NCIH1755	8.1
Lung	NCIH1781	8.8
Lung	NCIH1792	7.8
Lung	NCIH1793	7.2
Lung	NCIH1836	8.9
Lung	NCIH1838	7
Lung	NCIH1869	8.3
Lung	NCIH1876	9.1
Lung	NCIH1915	7.6
Lung	NCIH1930	8.3
Lung	NCIH1944	7.7
Lung	NCIH1963	8.6
Lung	NCIH196	8.4
Lung	NCIH1975	8.3
Lung	NCIH2009	8.3
Lung	NCIH2023	7.2
Lung	NCIH2029	9.3
Lung	NCIH2030	7.7
Lung	NCIH2066	8
Lung	NCIH2081	9.3
Lung	NCIH2085	8
Lung	NCIH2087	8.1
Lung	NCIH209	9.1
Lung	NCIH2106	8.1
Lung	NCIH2110	7.9
Lung	NCIH211	7.9
Lung	NCIH2122	7.5
Lung	NCIH2126	8.3
Lung	NCIH2141	9.1
Lung	NCIH2170	8.5
Lung	NCIH2171	8.8
Lung	NCIH2172	7.3
Lung	NCIH2196	7.6
Lung	NCIH2227	8.7
Lung	NCIH2228	7.5
Lung	NCIH226	7.6
Lung	NCIH2286	7.3
Lung	NCIH2291	8.2
Lung	NCIH2342	8.2
Lung	NCIH2347	7.3
Lung	NCIH23	7.7
Lung	NCIH2405	8.2
Lung	NCIH2444	8.1
Lung	NCIH292	7.5
Lung	NCIH322	6.5
Lung	NCIH3255	9
Lung	NCIH358	7.9
Lung	NCIH441	8.8
Lung	NCIH446	8.3
Lung	NCIH460	7.7
Lung	NCIH510	7.9
Lung	NCIH520	7.6
Lung	NCIH522	8.3
Lung	NCIH524	8.3
Lung	NCIH526	8.8
Lung	NCIH596	7.7
Lung	NCIH647	7.6
Lung	NCIH650	7.6
Lung	NCIH661	8
Lung	NCIH69	9.8
Lung	NCIH727	7.9
Lung	NCIH810	8.2
Lung	NCIH82	7.9
Lung	NCIH838	7.4
Lung	NCIH841	8.5
Lung	NCIH854	8.6
Lung	NCIH889	9.5
Lung	PC14	8
Lung	RERFLCAD1	8.4
Lung	RERFLCAD2	6.6
Lung	RERFLCAI	7.3
Lung	RERFLCKJ	8.2
Lung	RERFLCMS	7.7
Lung	RERFLCSQ1	7
Lung	SBC5	8.4
Lung	SCLC21H	10.1
Lung	SHP77	8.2
Lung	SKLU1	7.5
Lung	SKMES1	7.2
Lung	SQ1	6.9
Lung	SW1271	7.4
Lung	SW1573	7.9
Lung	SW900	7.7
Lung	VMRCLCD	8.9
Lung	VMRCLCP	8
Oesophagus	COLO680N	7.7
Oesophagus	ECGI10	7.8
Oesophagus	KYSE140	7.7
Oesophagus	KYSE150	7.7
Oesophagus	KYSE180	7.2
Oesophagus	KYSE270	6.9
Oesophagus	KYSE30	7.9
Oesophagus	KYSE410	7.6
Oesophagus	KYSE450	7.5
Oesophagus	KYSE510	7.3
Oesophagus	KYSE520	7.7
Oesophagus	KYSE70	8
Oesophagus	OE19	7.8
Oesophagus	OE33	7.8
Oesophagus	TE10	8.6
Oesophagus	TE11	7.6
Oesophagus	TE14	7.5
Oesophagus	TE15	7.6
Oesophagus	TE1	8.1
Oesophagus	TE4	7.8
Oesophagus	TE5	7.5
Oesophagus	TE6	7.9
Oesophagus	TE8	8.3
Oesophagus	TE9	7.5
Oesophagus	TT	8.1
Ovary	59M	7.2
Ovary	A2780	8.2
Ovary	CAOV3	6.8
Ovary	CAOV4	8.7
Ovary	COLO704	9
Ovary	COV318	8.3
Ovary	COV362	8
Ovary	COV434	7.8
Ovary	COV504	7.3
Ovary	COV644	8.1
Ovary	EFO21	8
Ovary	EFO27	8
Ovary	ES2	7.5
Ovary	FUOV1	8.5
Ovary	HEYA8	6.1
Ovary	HS571T	7.3
Ovary	IGROV1	6.9
Ovary	JHOC5	7
Ovary	JHOM1	8.1
Ovary	JHOM2B	9.1
Ovary	JHOS2	8.2
Ovary	JHOS4	8.6
Ovary	KURAMOCHI	9.6
Ovary	MCAS	7.3
Ovary	NIHOVCAR3	8.3
Ovary	OAW28	8.7
Ovary	OAW42	7.5
Ovary	OC314	7.5
Ovary	OC316	7.3
Ovary	ONCODG1	8.1
Ovary	OV56	7.5
Ovary	OV7	7.5
Ovary	OV90	9.4
Ovary	OVCAR4	8.5
Ovary	OVCAR8	8.3
Ovary	OVISE	7.1
Ovary	OVK18	7.5
Ovary	OVKATE	8.2
Ovary	OVMANA	8.2
Ovary	OVSAHO	7.9
Ovary	OVTOKO	7.7
Ovary	RMGI	7.2
Ovary	RMUGS	5.9
Ovary	SKOV3	7.6
Ovary	SNU119	8.6
Ovary	SNU840	7.3
Ovary	SNU8	8.1
Ovary	TOV112D	7.5
Ovary	TOV21G	7.2
Ovary	TYKNU	7.8
Pancreas	ASPC1	8.2
Pancreas	BXPC3	7
Pancreas	CAPAN1	7.9
Pancreas	CAPAN2	8.1
Pancreas	CFPAC1	8.3
Pancreas	DANG	7.8
Pancreas	HPAC	8.7
Pancreas	HPAFII	7.6
Pancreas	HS766T	7.6
Pancreas	HUPT3	7.7
Pancreas	HUPT4	8
Pancreas	KCIMOH1	7.9
Pancreas	KLM1	7.3
Pancreas	KP2	8.1
Pancreas	KP3	7.5
Pancreas	KP4	8.4
Pancreas	L33	7.4
Pancreas	MIAPACA2	8.5
Pancreas	PANC0203	8
Pancreas	PANC0213	8.5
Pancreas	PANC0327	7.7
Pancreas	PANC0403	7.2
Pancreas	PANC0504	7.3
Pancreas	PANC0813	7.7
Pancreas	PANC1005	8.1
Pancreas	PANC1	7.4
Pancreas	PATU8902	6.9
Pancreas	PATU8988S	8.3
Pancreas	PATU8988T	7.1
Pancreas	PK1	7.3
Pancreas	PK45H	8
Pancreas	PK59	8.3
Pancreas	PL45	7.6
Pancreas	PSN1	7.6
Pancreas	QGP1	8.9
Pancreas	SNU213	7.7
Pancreas	SNU324	8.2
Pancreas	SNU410	8.2
Pancreas	SU8686	8
Pancreas	SUIT2	8.2
Pancreas	SW1990	7
Pancreas	T3M4	6.7
Pancreas	TCCPAN2	7.6
Pancreas	YAPC	8.6
Pleura	ACCMESO1	6.8
Pleura	DM3	7.3
Pleura	ISTMES1	8.2
Pleura	ISTMES2	8.1
Pleura	JL1	8.6
Pleura	MPP89	6.7
Pleura	MSTO211H	7.6
Pleura	NCIH2052	7.1
Pleura	NCIH2452	8.4
Pleura	NCIH28	7.9
Prostate	22RV1	8
Prostate	DU145	6.7
Prostate	LNCAPCLONEFGC	8.3
Prostate	MDAPCA2B	6.8
Prostate	NCIH660	8.2
Prostate	PC3	7.3
Prostate	VCAP	8.8
Salivary gland	A253	7.4
Salivary gland	YD15	7
Skin	A101D	8.6
Skin	A2058	7.7
Skin	A375	7.6
Skin	C32	8.8
Skin	CHL1	7.8
Skin	CJM	7.8
Skin	COLO679	8.1
Skin	COLO741	8.2
Skin	COLO783	8.1
Skin	COLO792	7.9
Skin	COLO800	7.7
Skin	COLO818	8.1
Skin	COLO829	7.6
Skin	COLO849	7.4
Skin	G361	8.4
Skin	GRM	8.2
Skin	HMCB	7.9
Skin	HS294T	8.3
Skin	HS600T	7.4
Skin	HS688AT	7.6
Skin	HS695T	8.3
Skin	HS839T	7.4
Skin	HS852T	8
Skin	HS895T	6.8
Skin	HS934T	7.5
Skin	HS936T	7.6
Skin	HS939T	7.8
Skin	HS940T	7.5
Skin	HS944T	7.3
Skin	HT144	8
Skin	IGR1	8.5
Skin	IGR37	7.7
Skin	IGR39	7.8
Skin	IPC298	8
Skin	K029AX	8.3
Skin	LOXIMVI	7.7
Skin	MALME3M	8.6
Skin	MDAMB435S	7.4
Skin	MELHO	8.2
Skin	MELJUSO	7.6
Skin	MEWO	7.2
Skin	RPMI7951	7.7
Skin	RVH421	8.3
Skin	SH4	8.5
Skin	SKMEL1	8.5
Skin	SKMEL24	8.3
Skin	SKMEL28	7.4
Skin	SKMEL2	8.1
Skin	SKMEL30	7.6
Skin	SKMEL31	8.6
Skin	SKMEL3	8.2
Skin	SKMEL5	7.6
Skin	UACC257	7.3
Skin	UACC62	7.6
Skin	WM115	8.1
Skin	WM1799	7.9
Skin	WM2664	8.2
Skin	WM793	8.6
Skin	WM88	8.1
Skin	WM983B	8.3
Small intestine	HUTU80	8.1
Soft tissue	A204	7.7
Soft tissue	G401	7.7
Soft tissue	G402	7.7
Soft tissue	GCT	7.7
Soft tissue	HS729	7.6
Soft tissue	HT1080	7.5
Soft tissue	KYM1	8.3
Soft tissue	MESSA	8
Soft tissue	RD	8.3
Soft tissue	RH30	7.7
Soft tissue	RH41	7.8
Soft tissue	RKN	7.4
Soft tissue	S117	8.3
Soft tissue	SJRH30	8.3
Soft tissue	SKLMS1	8
Soft tissue	SKUT1	7.8
Soft tissue	TE125T	7.5
Soft tissue	TE159T	7.6
Soft tissue	TE441T	8.9
Soft tissue	TE617T	7.7
Stomach	2313287	8.2
Stomach	AGS	8
Stomach	AZ521	7.8
Stomach	ECC10	8.7
Stomach	ECC12	8.4
Stomach	FU97	7.5
Stomach	GCIY	7.5
Stomach	GSS	7.8
Stomach	GSU	9.1
Stomach	HGC27	8.7
Stomach	HS746T	7.8
Stomach	HUG1N	8.8
Stomach	IM95	7.9
Stomach	KATOIII	7.8
Stomach	KE39	8.8
Stomach	LMSU	7.4
Stomach	MKN1	8.4
Stomach	MKN45	8.5
Stomach	MKN74	8.4
Stomach	MKN7	7.2
Stomach	NCCSTCK140	7.8
Stomach	NCIN87	7.2
Stomach	NUGC2	6.9
Stomach	NUGC3	6.4
Stomach	NUGC4	8.7
Stomach	OCUM1	7.9
Stomach	RERFGC1B	8.1
Stomach	SH10TC	7.9
Stomach	SNU16	8.7
Stomach	SNU1	7.9
Stomach	SNU216	8.2
Stomach	SNU520	8.6
Stomach	SNU5	7.8
Stomach	SNU601	7.9
Stomach	SNU620	8.7
Stomach	SNU668	7.8
Stomach	SNU719	8.7
Stomach	TGBC11TKB	8.9
Thyroid	8305C	7.1
Thyroid	8505C	7.5
Thyroid	BCPAP	7.3
Thyroid	BHT101	8.8
Thyroid	CAL62	8.1
Thyroid	CGTHW1	7.5
Thyroid	FTC133	8.1
Thyroid	FTC238	7.5
Thyroid	ML1	8.4
Thyroid	SW579	7.1
Thyroid	TT2609C02	8.2
Thyroid	TT	8.7
Upper aerodigestive tract	BHY	8.2
Upper aerodigestive tract	BICR16	6.9
Upper aerodigestive tract	BICR18	8.1
Upper aerodigestive tract	BICR22	8.3
Upper aerodigestive tract	BICR31	7.6
Upper aerodigestive tract	BICR56	8.7
Upper aerodigestive tract	BICR6	7.8
Upper aerodigestive tract	CAL27	7.9
Upper aerodigestive tract	CAL33	7.8
Upper aerodigestive tract	DETROIT562	6.9
Upper aerodigestive tract	FADU	8.5
Upper aerodigestive tract	HS840T	7.5
Upper aerodigestive tract	HSC2	7.4
Upper aerodigestive tract	HSC3	6.6
Upper aerodigestive tract	HSC4	8.3
Upper aerodigestive tract	PECAPJ15	8
Upper aerodigestive tract	PECAPJ34CLONEC12	6.8
Upper aerodigestive tract	PECAPJ41CLONED2	6.8
Upper aerodigestive tract	PECAPJ49	6.7
Upper aerodigestive tract	SCC15	7.6
Upper aerodigestive tract	SCC25	7.1
Upper aerodigestive tract	SCC4	7.3
Upper aerodigestive tract	SCC9	7.7
Upper aerodigestive tract	SNU1076	7.6
Upper aerodigestive tract	SNU1214	7.8
Upper aerodigestive tract	SNU46	7.2
Upper aerodigestive tract	SNU899	8.4
Upper aerodigestive tract	YD10B	7.9
Upper aerodigestive tract	YD38	7.5
Upper aerodigestive tract	YD8	7.8
Urinary tract	5637	7.4
Urinary tract	639V	7.7
Urinary tract	647V	7.9
Urinary tract	BC3C	7.4
Urinary tract	BFTC905	8.1
Urinary tract	CAL29	7.8
Urinary tract	HS172T	7.4
Urinary tract	HT1197	8
Urinary tract	HT1376	8
Urinary tract	J82	7.3
Urinary tract	JMSU1	8.1
Urinary tract	KMBC2	8.4
Urinary tract	KU1919	8.9
Urinary tract	RT11284	7.9
Urinary tract	RT112	7.5
Urinary tract	RT4	7.8
Urinary tract	SCABER	7.1
Urinary tract	SW1710	8.3
Urinary tract	SW780	8
Urinary tract	T24	7.5
Urinary tract	TCCSUP	7.7
Urinary tract	UMUC1	7.3
Urinary tract	UMUC3	8.2
Urinary tract	VMCUB1	7.7

> The Human Protein Atlas (HPA)

[ TOP ]

Tissue	Expression Level (TPM)
Adipose tissue	9.4
Adrenal gland	11.2
Appendix	11.9
Bone marrow	18.2
Breast	14.4
Cerebral cortex	14.6
Cervix, uterine	19.4
Colon	10.7
Duodenum	8.4
Endometrium	19.3
Epididymis	19.3
Esophagus	9
Fallopian tube	15
Gallbladder	13.5
Heart muscle	4.5
Kidney	9.2
Liver	4.8
Lung	13.8
Lymph node	12.8
Ovary	18
Pancreas	2.9
Parathyroid gland	23.1
Placenta	15.2
Prostate	16.3
Rectum	10.5
Salivary gland	8.9
Seminal vesicle	13.8
Skeletal muscle	8.2
Skin	25.8
Small intestine	8.1
Smooth muscle	11.9
Spleen	15.3
Stomach	9.8
Testis	19.8
Thyroid gland	23.4
Tonsil	9.3
Urinary bladder	8.4

> Text Mining based Expression

[ TOP ]

PMID	Expression	Cancer	Evidence
25633166	Underexpression	Larynx Carcinoma	MLL3 was significantly downregulated in tumor samples compared to their normal counterparts, and all MLL genes showed decreased expression in advanced tumors compared to tumors in the initial stage.
25273170	Underexpression	Oesophagal Squamous Cell Carcinoma	Here, we found that the expression of MLL3 was downregulated in ESCC tissues.
25222251	Underexpression	Gastric Carcinoma	Using immunohistochemical staining and Kaplan-Meier analysis for MLL3 in gastric cancer patients, we found that low expression of MLL3 had a significant relationship with a low survival rate compared to positive MLL3 expression in the patients analyzed (P<0.05).
23259788	Loss of Expression (mutation)	Gastric Carcinoma; Colorectal Carcinoma	We found MLL, MLL2, MLL3 and MLL5 frameshift mutations in two (one GC and one CRC), three (one GC and two CRC), 17 (14 GC and three CRC) and six (four GC and two CRC) cancers, respectively. All of the cancers with MLL3 mutations showed loss of MLL3 expression, and their values were significantly lower than in those without MLL3 mutation (50.9%).

Summary
Symbol	KMT2C
Name	lysine methyltransferase 2C
Aliases	KIAA1506; HALR; MLL3; myeloid/lymphoid or mixed-lineage leukemia 3; ALR-like protein; histone-lysine N-methy ......
Location	7q36.1
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)

[ TOP ]

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	0.385	1.09e-15	13.6	55	31.4	Neutral
BRCA	Breast invasive carcinoma	1075	0.266	6.47e-19	19.3	56	24.7	Neutral
CESC	Cervical and endocervical cancers	292	0.389	5.62e-12	21.2	66.1	12.7	Neutral
COAD	Colon adenocarcinoma	449	0.259	2.48e-08	2	49.4	48.6	Gain
ESCA	Esophageal carcinoma	183	0.548	9.23e-16	37.7	33.9	28.4	Loss
GBM	Glioblastoma multiforme	147	0.345	1.88e-05	1.4	15	83.7	Gain
HNSC	Head and Neck squamous cell carcinoma	514	0.417	4.83e-23	26.3	56	17.7	Neutral
KIRC	Kidney renal clear cell carcinoma	525	0.205	2.19e-06	1.1	65.7	33.1	Neutral
KIRP	Kidney renal papillary cell carcinoma	288	0.441	3.81e-15	0.7	39.9	59.4	Gain
LAML	Acute Myeloid Leukemia	166	0.391	1.92e-07	12.7	86.7	0.6	Neutral
LGG	Brain Lower Grade Glioma	513	0.276	2.16e-10	1	65.1	33.9	Gain
LIHC	Liver hepatocellular carcinoma	364	0.461	1.46e-20	9.1	58.8	32.1	Neutral
LUAD	Lung adenocarcinoma	512	0.321	9.29e-14	12.1	45.1	42.8	Gain
LUSC	Lung squamous cell carcinoma	498	0.385	5.06e-19	20.5	39.4	40.2	Gain
OV	Ovarian serous cystadenocarcinoma	300	0.505	8.47e-21	14.3	35.3	50.3	Gain
PAAD	Pancreatic adenocarcinoma	177	0.378	2.12e-07	7.9	68.4	23.7	Neutral
PCPG	Pheochromocytoma and Paraganglioma	162	0.442	3.97e-09	5.6	81.5	13	Neutral
PRAD	Prostate adenocarcinoma	491	0.303	6.41e-12	5.5	75.4	19.1	Neutral
READ	Rectum adenocarcinoma	164	0.347	5.25e-06	4.9	43.3	51.8	Gain
SARC	Sarcoma	255	0.295	1.66e-06	23.1	54.1	22.7	Neutral
SKCM	Skin Cutaneous Melanoma	367	0.395	4.01e-15	6.5	34.9	58.6	Gain
STAD	Stomach adenocarcinoma	413	0.429	6.2e-20	21.8	47.2	31	Neutral
TGCT	Testicular Germ Cell Tumors	150	0.292	0.000294	10	29.3	60.7	Gain
THCA	Thyroid carcinoma	497	0.121	0.00691	0	95.8	4.2	Neutral
THYM	Thymoma	119	0.151	0.1	2.5	83.2	14.3	Neutral
UCEC	Uterine Corpus Endometrial Carcinoma	537	0.329	5.22e-15	12.1	72.8	15.1	Neutral

Summary
Symbol	KMT2C
Name	lysine methyltransferase 2C
Aliases	KIAA1506; HALR; MLL3; myeloid/lymphoid or mixed-lineage leukemia 3; ALR-like protein; histone-lysine N-methy ......
Location	7q36.1
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	-0.063	0.197	17	408	0.347	1.61e-07	Increased
BRCA	Breast invasive carcinoma	-0.09	0.00823	83	785	0.002	0.305	NS/NA
CESC	Cervical and endocervical cancers	-0.348	3.95e-10	3	306	NA	NA	NS/NA
COAD	Colon adenocarcinoma	-0.212	0.00015	19	297	0.001	0.0228	NS/NA
ESCA	Esophageal carcinoma	-0.247	0.000531	9	185	NA	NA	NS/NA
GBM	Glioblastoma multiforme	-0.069	0.583	1	64	NA	NA	NS/NA
HNSC	Head and Neck squamous cell carcinoma	-0.212	6.8e-07	20	522	0.003	9.56e-06	NS/NA
KIRC	Kidney renal clear cell carcinoma	-0.145	0.00709	24	319	0.076	1.58e-44	NS/NA
KIRP	Kidney renal papillary cell carcinoma	-0.334	4e-09	23	275	0.001	0.861	NS/NA
LAML	Acute Myeloid Leukemia	-0.153	0.0461	0	170	NA	NA	NS/NA
LGG	Brain Lower Grade Glioma	-0.11	0.0112	0	530	NA	NA	NS/NA
LIHC	Liver hepatocellular carcinoma	-0.108	0.0276	41	373	0	0.14	NS/NA
LUAD	Lung adenocarcinoma	-0.074	0.105	21	456	0.001	0.903	NS/NA
LUSC	Lung squamous cell carcinoma	-0.061	0.237	8	370	NA	NA	NS/NA
OV	Ovarian serous cystadenocarcinoma	-0.517	0.162	0	9	NA	NA	NS/NA
PAAD	Pancreatic adenocarcinoma	-0.258	0.000438	4	179	NA	NA	NS/NA
PCPG	Pheochromocytoma and Paraganglioma	-0.225	0.00199	3	184	NA	NA	NS/NA
PRAD	Prostate adenocarcinoma	-0.046	0.289	35	498	0.003	0.00277	NS/NA
READ	Rectum adenocarcinoma	-0.263	0.00811	2	99	NA	NA	NS/NA
SARC	Sarcoma	-0.102	0.0992	0	263	NA	NA	NS/NA
SKCM	Skin Cutaneous Melanoma	-0.152	0.000914	1	471	NA	NA	NS/NA
STAD	Stomach adenocarcinoma	-0.216	2.83e-05	0	372	NA	NA	NS/NA
TGCT	Testicular Germ Cell Tumors	-0.265	0.000879	0	156	NA	NA	NS/NA
THCA	Thyroid carcinoma	-0.209	6.51e-07	50	509	0	0.611	NS/NA
THYM	Thymoma	-0.119	0.19	2	120	NA	NA	NS/NA
UCEC	Uterine Corpus Endometrial Carcinoma	-0.086	0.0642	34	431	0.4	6.65e-27	Increased

Summary
Symbol	KMT2C
Name	lysine methyltransferase 2C
Aliases	KIAA1506; HALR; MLL3; myeloid/lymphoid or mixed-lineage leukemia 3; ALR-like protein; histone-lysine N-methy ......
Location	7q36.1
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 ]
There is no antibody staining data.

Summary
Symbol	KMT2C
Name	lysine methyltransferase 2C
Aliases	KIAA1506; HALR; MLL3; myeloid/lymphoid or mixed-lineage leukemia 3; ALR-like protein; histone-lysine N-methy ......
Location	7q36.1
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	0.849	NS	24476821
BRCA	Breast invasive carcinoma	521	0.000147	Significant	23000897
COAD	Colon adenocarcinoma	149	0.0148	Significant	22810696
GBM	Glioblastoma multiforme	157	0.0611	NS	26824661
HNSC	Head and Neck squamous cell carcinoma	279	0.00189	Significant	25631445
KIRP	Kidney renal papillary cell carcinoma	161	1.02e-05	Significant	26536169
LGG	Brain Lower Grade Glioma	513	0.00313	Significant	26824661
LUAD	Lung adenocarcinoma	230	0.604	NS	25079552
LUSC	Lung squamous cell carcinoma	178	0.318	NS	22960745
OV	Ovarian serous cystadenocarcinoma	287	0.0618	NS	21720365
PRAD	Prostate adenocarcinoma	333	0.576	NS	26544944
READ	Rectum adenocarcinoma	67	0.0432	Significant	22810696
SKCM	Skin Cutaneous Melanoma	315	0.092	NS	26091043
STAD	Stomach adenocarcinoma	277	0.0175	Significant	25079317
THCA	Thyroid carcinoma	391	0.441	NS	25417114
UCEC	Uterine Corpus Endometrial Carcinoma	232	0.00151	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	0.814	0.338	NS
BRCA	Breast invasive carcinoma	1079	1.054	0.832	NS
CESC	Cervical and endocervical cancers	291	1.062	0.846	NS
COAD	Colon adenocarcinoma	439	1.449	0.236	NS
ESCA	Esophageal carcinoma	184	0.641	0.174	NS
GBM	Glioblastoma multiforme	158	0.854	0.534	NS
HNSC	Head and Neck squamous cell carcinoma	518	0.663	0.0338	Longer
KIRC	Kidney renal clear cell carcinoma	531	0.468	0.00158	Longer
KIRP	Kidney renal papillary cell carcinoma	287	0.546	0.175	NS
LAML	Acute Myeloid Leukemia	149	0.688	0.205	NS
LGG	Brain Lower Grade Glioma	511	0.844	0.536	NS
LIHC	Liver hepatocellular carcinoma	365	0.989	0.963	NS
LUAD	Lung adenocarcinoma	502	0.664	0.0748	NS
LUSC	Lung squamous cell carcinoma	494	1.153	0.475	NS
OV	Ovarian serous cystadenocarcinoma	303	1.178	0.435	NS
PAAD	Pancreatic adenocarcinoma	177	1	0.999	NS
PCPG	Pheochromocytoma and Paraganglioma	179	1.085	0.954	NS
PRAD	Prostate adenocarcinoma	497	2.055	0.441	NS
READ	Rectum adenocarcinoma	159	1.026	0.968	NS
SARC	Sarcoma	259	0.675	0.21	NS
SKCM	Skin Cutaneous Melanoma	459	0.825	0.335	NS
STAD	Stomach adenocarcinoma	388	0.781	0.293	NS
TGCT	Testicular Germ Cell Tumors	134	1.169	0.912	NS
THCA	Thyroid carcinoma	500	2.846	0.343	NS
THYM	Thymoma	119	1.129	0.932	NS
UCEC	Uterine Corpus Endometrial Carcinoma	543	0.713	0.295	NS

> Stage

[ TOP ]

Association between expresson and stage.

Cancer	Full Name	# Patients	R Value (Spearman)	P Value (Spearman)	Association
BLCA	Bladder urothelial carcinoma	406	-0.029	0.558	NS
BRCA	Breast invasive carcinoma	1071	-0.017	0.584	NS
CESC	Cervical and endocervical cancers	167	0.093	0.231	NS
COAD	Colon adenocarcinoma	445	0.036	0.451	NS
ESCA	Esophageal carcinoma	162	-0.135	0.0856	NS
HNSC	Head and Neck squamous cell carcinoma	448	-0.078	0.0983	NS
KIRC	Kidney renal clear cell carcinoma	531	-0.114	0.00874	Lower
KIRP	Kidney renal papillary cell carcinoma	260	-0.182	0.00328	Lower
LIHC	Liver hepatocellular carcinoma	347	0.012	0.83	NS
LUAD	Lung adenocarcinoma	507	-0.034	0.445	NS
LUSC	Lung squamous cell carcinoma	497	0.025	0.583	NS
OV	Ovarian serous cystadenocarcinoma	302	0.023	0.688	NS
PAAD	Pancreatic adenocarcinoma	176	-0.043	0.569	NS
READ	Rectum adenocarcinoma	156	0.058	0.473	NS
SKCM	Skin Cutaneous Melanoma	410	0.025	0.614	NS
STAD	Stomach adenocarcinoma	392	0.046	0.364	NS
TGCT	Testicular Germ Cell Tumors	81	-0.32	0.00355	Lower
THCA	Thyroid carcinoma	499	-0.009	0.836	NS
UCEC	Uterine Corpus Endometrial Carcinoma	501	-0.059	0.187	NS

> Grade

[ TOP ]

Association between expresson and grade.

Cancer	Full Name	# Patients	R Value (Spearman)	P Value (Spearman)	Association
CESC	Cervical and endocervical cancers	272	-0.13	0.032	Lower
HNSC	Head and Neck squamous cell carcinoma	498	-0.085	0.0568	NS
KIRC	Kidney renal clear cell carcinoma	525	-0.125	0.00403	Lower
LGG	Brain Lower Grade Glioma	514	-0.095	0.0305	Lower
LIHC	Liver hepatocellular carcinoma	366	-0.07	0.181	NS
OV	Ovarian serous cystadenocarcinoma	296	0.038	0.512	NS
PAAD	Pancreatic adenocarcinoma	176	-0.083	0.273	NS
STAD	Stomach adenocarcinoma	406	-0.016	0.752	NS
UCEC	Uterine Corpus Endometrial Carcinoma	534	-0.111	0.0101	Lower

Summary
Symbol	KMT2C
Name	lysine methyltransferase 2C
Aliases	KIAA1506; HALR; MLL3; myeloid/lymphoid or mixed-lineage leukemia 3; ALR-like protein; histone-lysine N-methy ......
Location	7q36.1
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	KMT2C
Name	lysine methyltransferase 2C
Aliases	KIAA1506; HALR; MLL3; myeloid/lymphoid or mixed-lineage leukemia 3; ALR-like protein; histone-lysine N-methy ......
Location	7q36.1
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 KMT2C.

Summary
Symbol	KMT2C
Name	lysine methyltransferase 2C
Aliases	KIAA1506; HALR; MLL3; myeloid/lymphoid or mixed-lineage leukemia 3; ALR-like protein; histone-lysine N-methy ......
Location	7q36.1
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 ]
There is no record for KMT2C.

> Interactions from Text Mining [ TOP ]
There is no record for KMT2C.