Entrez Gene

Basic Information
Gene ID	4853
Name	NOTCH2
Synonymous	notch 2;NOTCH2;notch 2
Definition	Notch homolog 2\|neurogenic locus notch homolog protein 2
Position	1p13-p11
Gene Type	protein-coding
Mutation summary:	Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72

Mutation summary in protein domains

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Loss of Function mutations compare to missense mutations

Top

The ratio of the loss-of-function mutations over missense mutations is 0.30.

The copy number variations for various cancers

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.6668A>G; p.Q2223R; 1:119916054-119916054	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5770G>T; p.G1924C; 1:119919323-119919323	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4889G>T; p.R1630L; 1:119922749-119922749	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4000C>G; p.P1334A; 1:119926504-119926504	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.6973C>T; p.Q2325*; 1:119915749-119915749	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Nonsense
c.6973C>T; p.Q2325*; 1:119915749-119915749	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Nonsense
c.3044T>C; p.V1015A; 1:119940694-119940694	breast	carcinoma	Substitution - Missense
c.709C>T; p.R237W; 1:119997039-119997039	urinary_tract; bladder	carcinoma	Substitution - Missense
c.137A>G; p.N46S; 1:120029924-120029924	haematopoietic_and_lymphoid_tissue; central_nervous_system	lymphoid_neoplasm; primary_central_nervous_system_lymphoma	Substitution - Missense
c.137A>G; p.N46S; 1:120029924-120029924	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5714C>A; p.A1905D; 1:119919379-119919379	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.6158G>A; p.R2053H; 1:119916564-119916564	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.137A>G; p.N46S; 1:120029924-120029924	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4174C>T; p.Q1392*; 1:119925642-119925642	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.137A>G; p.N46S; 1:120029924-120029924	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.137A>G; p.N46S; 1:120029924-120029924	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2144C>T; p.P715L; 1:119955115-119955115	skin	malignant_melanoma	Substitution - Missense
c.709C>T; p.R237W; 1:119997039-119997039	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.137A>G; p.N46S; 1:120029924-120029924	thyroid	other; neoplasm	Substitution - Missense
c.137A>G; p.N46S; 1:120029924-120029924	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.137A>G; p.N46S; 1:120029924-120029924	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.137A>G; p.N46S; 1:120029924-120029924	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.137A>G; p.N46S; 1:120029924-120029924	thyroid	other; neoplasm	Substitution - Missense
c.137A>G; p.N46S; 1:120029924-120029924	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.137A>G; p.N46S; 1:120029924-120029924	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.137A>G; p.N46S; 1:120029924-120029924	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2144C>T; p.P715L; 1:119955115-119955115	skin	malignant_melanoma	Substitution - Missense
c.137A>G; p.N46S; 1:120029924-120029924	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.137A>G; p.N46S; 1:120029924-120029924	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.137A>G; p.N46S; 1:120029924-120029924	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.137A>G; p.N46S; 1:120029924-120029924	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.137A>G; p.N46S; 1:120029924-120029924	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.137A>G; p.N46S; 1:120029924-120029924	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.137A>G; p.N46S; 1:120029924-120029924	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.137A>G; p.N46S; 1:120029924-120029924	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7315G>A; p.V2439M; 1:119915407-119915407	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1883G>A; p.G628D; 1:119963606-119963606	skin	malignant_melanoma	Substitution - Missense
c.4120T>A; p.C1374S; 1:119925696-119925696	central_nervous_system; brain	glioma	Substitution - Missense
c.7358G>A; p.R2453Q; 1:119915364-119915364	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1823T>C; p.I608T; 1:119963666-119963666	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6485C>T; p.S2162F; 1:119916237-119916237	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.2694A>G; p.E898E; 1:119948472-119948472	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.6868G>A; p.E2290K; 1:119915854-119915854	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Missense
c.1729G>A; p.D577N; 1:119963760-119963760	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.4732C>T; p.R1578C; 1:119923764-119923764	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.7358G>A; p.R2453Q; 1:119915364-119915364	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.6259C>T; p.P2087S; 1:119916463-119916463	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2392G>T; p.E798*; 1:119950811-119950811	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2730G>T; p.E910D; 1:119948436-119948436	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1441C>G; p.L481V; 1:119967445-119967445	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5686C>T; p.L1896F; 1:119919407-119919407	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.5507C>T; p.S1836F; 1:119919586-119919586	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5416G>A; p.A1806T; 1:119920292-119920292	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2755C>T; p.P919S; 1:119941752-119941752	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3625T>G; p.F1209V; 1:119935502-119935502	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.5176C>T; p.R1726C; 1:119922273-119922273	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5442_5443GG>AA; p.E1815K; 1:119920265-119920266	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2779A>G; p.M927V; 1:119941728-119941728	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4990G>T; p.V1664L; 1:119922648-119922648	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2167G>A; p.E723K; 1:119955092-119955092	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5176C>T; p.R1726C; 1:119922273-119922273	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2167G>A; p.E723K; 1:119955092-119955092	kidney	other; neoplasm	Substitution - Missense
c.4082C>T; p.A1361V; 1:119925734-119925734	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3461C>T; p.A1154V; 1:119937343-119937343	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.6991G>T; p.A2331S; 1:119915731-119915731	breast	carcinoma	Substitution - Missense
c.3489A>T; p.T1163T; 1:119937315-119937315	pancreas	carcinoma	Substitution - coding silent
c.6976T>C; p.S2326P; 1:119915746-119915746	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5277C>T; p.V1759V; 1:119921746-119921746	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1445G>T; p.C482F; 1:119967441-119967441	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2995G>T; p.G999C; 1:119940743-119940743	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2104A>G; p.N702D; 1:119955155-119955155	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6056G>T; p.R2019L; 1:119916666-119916666	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.332T>G; p.V111G; 1:120005412-120005412	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2970G>C; p.E990D; 1:119941537-119941537	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4592G>T; p.G1531V; 1:119923904-119923904	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2970G>C; p.E990D; 1:119941537-119941537	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3444G>A; p.E1148E; 1:119937360-119937360	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4018G>A; p.A1340T; 1:119925798-119925798	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.427C>T; p.Q143*; 1:119997321-119997321	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.6867_6871delTGAAG; p.G2291fs*20; 1:119915851-119915855	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Deletion - Frameshift
c.7198C>T; p.R2400*; 1:119915524-119915524	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Nonsense
c.7198C>T; p.R2400*; 1:119915524-119915524	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Nonsense
c.7198C>T; p.R2400*; 1:119915524-119915524	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Nonsense
c.7198C>T; p.R2400*; 1:119915524-119915524	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Nonsense
c.1080C>T; p.F360F; 1:119969539-119969539	skin	malignant_melanoma	Substitution - coding silent
c.7198C>T; p.R2400*; 1:119915524-119915524	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Nonsense
c.7198C>T; p.R2400*; 1:119915524-119915524	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Nonsense
c.7198C>T; p.R2400*; 1:119915524-119915524	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Nonsense
c.7198C>T; p.R2400*; 1:119915524-119915524	breast	carcinoma; ductal_carcinoma	Substitution - Nonsense
c.7198C>T; p.R2400*; 1:119915524-119915524	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5209C>T; p.L1737L; 1:119922240-119922240	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.7198C>T; p.R2400*; 1:119915524-119915524	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Nonsense
c.7198C>T; p.R2400*; 1:119915524-119915524	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Nonsense
c.7198C>T; p.R2400*; 1:119915524-119915524	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Nonsense
c.6871_6883del13; p.G2291fs*11; 1:119915839-119915851	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Deletion - Frameshift
c.7198C>T; p.R2400*; 1:119915524-119915524	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.7198C>T; p.R2400*; 1:119915524-119915524	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Nonsense
c.7198C>T; p.R2400*; 1:119915524-119915524	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; MALT_lymphoma	Substitution - Nonsense
c.7198C>T; p.R2400*; 1:119915524-119915524	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Nonsense
c.3205C>T; p.R1069W; 1:119937989-119937989	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.7198C>T; p.R2400*; 1:119915524-119915524	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Nonsense
c.7198C>T; p.R2400*; 1:119915524-119915524	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Nonsense
c.7198C>T; p.R2400*; 1:119915524-119915524	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Nonsense
c.7198C>T; p.R2400*; 1:119915524-119915524	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Nonsense
c.7198C>T; p.R2400*; 1:119915524-119915524	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Nonsense
c.7198C>T; p.R2400*; 1:119915524-119915524	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Nonsense
c.7198C>T; p.R2400*; 1:119915524-119915524	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Nonsense
c.7198C>T; p.R2400*; 1:119915524-119915524	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Nonsense
c.7198C>T; p.R2400*; 1:119915524-119915524	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Nonsense
c.7198C>T; p.R2400*; 1:119915524-119915524	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Nonsense
c.7198C>T; p.R2400*; 1:119915524-119915524	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Nonsense
c.7198C>T; p.R2400*; 1:119915524-119915524	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Nonsense
c.7198C>T; p.R2400*; 1:119915524-119915524	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Nonsense
c.7198C>T; p.R2400*; 1:119915524-119915524	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Nonsense
c.7198C>T; p.R2400*; 1:119915524-119915524	breast	carcinoma	Substitution - Nonsense
c.5926C>A; p.H1976N; 1:119918409-119918409	skin	malignant_melanoma	Substitution - Missense
c.804G>T; p.R268S; 1:119987030-119987030	breast	carcinoma	Substitution - Missense
c.5924A>G; p.D1975G; 1:119918411-119918411	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6073G>A; p.A2025T; 1:119916649-119916649	skin	malignant_melanoma	Substitution - Missense
c.6073G>A; p.A2025T; 1:119916649-119916649	skin	malignant_melanoma	Substitution - Missense
c.1093C>A; p.P365T; 1:119969526-119969526	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2166C>G; p.N722K; 1:119955093-119955093	skin	malignant_melanoma	Substitution - Missense
c.5823G>A; p.M1941I; 1:119918512-119918512	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6999G>T; p.A2333A; 1:119915723-119915723	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1349G>T; p.G450V; 1:119967537-119967537	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.645C>T; p.G215G; 1:119997103-119997103	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Substitution - coding silent
c.863delC; p.P288fs*108; 1:119986971-119986971	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1308G>T; p.T436T; 1:119967578-119967578	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2273A>G; p.K758R; 1:119953635-119953635	prostate	carcinoma	Substitution - Missense
c.6774_6799del26; p.E2258fs*10; 1:119915923-119915948	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Deletion - Frameshift
c.6910_6910A>CCC; p.I2304fs*3; 1:119915812-119915812	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Complex - frameshift
c.2128G>A; p.E710K; 1:119955131-119955131	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2128G>A; p.E710K; 1:119955131-119955131	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4180C>T; p.Q1394*; 1:119925636-119925636	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1354C>A; p.R452S; 1:119967532-119967532	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1961G>A; p.C654Y; 1:119959457-119959457	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6354C>G; p.N2118K; 1:119916368-119916368	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1264G>T; p.A422S; 1:119968077-119968077	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5218C>A; p.L1740I; 1:119921805-119921805	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2270A>G; p.D757G; 1:119953638-119953638	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5311G>C; p.A1771P; 1:119920397-119920397	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.257G>A; p.G86E; 1:120005487-120005487	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1355G>A; p.R452H; 1:119967531-119967531	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1355G>A; p.R452H; 1:119967531-119967531	central_nervous_system; brain	glioma	Substitution - Missense
c.5180G>A; p.R1727H; 1:119922269-119922269	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3410G>A; p.C1137Y; 1:119937394-119937394	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3893-1G>A; p.?; 1:119926612-119926612	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.4452C>A; p.C1484*; 1:119925364-119925364	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3410G>A; p.C1137Y; 1:119937394-119937394	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.1340G>A; p.G447D; 1:119967546-119967546	skin	malignant_melanoma	Substitution - Missense
c.3381C>T; p.I1127I; 1:119937423-119937423	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2679C>A; p.G893G; 1:119948487-119948487	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2109T>C; p.G703G; 1:119955150-119955150	meninges	meningioma	Substitution - coding silent
c.952C>T; p.R318C; 1:119969667-119969667	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2158C>T; p.Q720*; 1:119955101-119955101	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2266G>T; p.V756L; 1:119953642-119953642	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.112G>A; p.E38K; 1:120029949-120029949	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.112G>A; p.E38K; 1:120029949-120029949	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4846C>T; p.Q1616*; 1:119923650-119923650	skin; ear	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.112G>A; p.E38K; 1:120029949-120029949	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.112G>A; p.E38K; 1:120029949-120029949	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.112G>A; p.E38K; 1:120029949-120029949	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.112G>A; p.E38K; 1:120029949-120029949	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.112G>A; p.E38K; 1:120029949-120029949	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.112G>A; p.E38K; 1:120029949-120029949	thyroid	other; neoplasm	Substitution - Missense
c.112G>A; p.E38K; 1:120029949-120029949	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.112G>A; p.E38K; 1:120029949-120029949	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.112G>A; p.E38K; 1:120029949-120029949	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.112G>A; p.E38K; 1:120029949-120029949	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.112G>A; p.E38K; 1:120029949-120029949	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2901C>T; p.Y967Y; 1:119941606-119941606	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - coding silent
c.1911G>A; p.T637T; 1:119963578-119963578	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.112G>A; p.E38K; 1:120029949-120029949	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.112G>A; p.E38K; 1:120029949-120029949	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.112G>A; p.E38K; 1:120029949-120029949	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.112G>A; p.E38K; 1:120029949-120029949	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.112G>A; p.E38K; 1:120029949-120029949	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.112G>A; p.E38K; 1:120029949-120029949	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.112G>A; p.E38K; 1:120029949-120029949	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2026+9C>G; p.?; 1:119959383-119959383	liver	carcinoma	Unknown
c.660C>A; p.S220R; 1:119997088-119997088	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2026+9C>G; p.?; 1:119959383-119959383	liver	carcinoma	Unknown
c.443G>A; p.C148Y; 1:119997305-119997305	pancreas	carcinoid-endocrine_tumour	Substitution - Missense
c.3112G>A; p.G1038R; 1:119940626-119940626	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7163C>T; p.S2388L; 1:119915559-119915559	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6314G>A; p.R2105Q; 1:119916408-119916408	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7336G>T; p.G2446W; 1:119915386-119915386	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4350G>A; p.W1450*; 1:119925466-119925466	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3565G>C; p.D1189H; 1:119935562-119935562	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.5841C>T; p.P1947P; 1:119918494-119918494	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.937G>T; p.G313C; 1:119969682-119969682	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6824C>A; p.A2275D; 1:119915898-119915898	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Missense
c.2068C>T; p.P690S; 1:119955191-119955191	skin	malignant_melanoma	Substitution - Missense
c.6854_6854delA; p.Q2285fs*10; 1:119915868-119915868	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Deletion - Frameshift
c.2346T>C; p.T782T; 1:119953562-119953562	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2839C>T; p.Q947*; 1:119941668-119941668	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2523T>C; p.P841P; 1:119949083-119949083	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.7075C>T; p.P2359S; 1:119915647-119915647	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2839C>T; p.Q947*; 1:119941668-119941668	skin; ear	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.6094C>A; p.H2032N; 1:119916628-119916628	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1313G>A; p.G438D; 1:119967573-119967573	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.5762A>C; p.D1921A; 1:119919331-119919331	thyroid	carcinoma	Substitution - Missense
c.4229G>A; p.R1410H; 1:119925587-119925587	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.915G>A; p.Q305Q; 1:119969704-119969704	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4060G>A; p.G1354R; 1:119925756-119925756	thyroid	other; neoplasm	Substitution - Missense
c.2178C>A; p.S726R; 1:119955081-119955081	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5968G>A; p.V1990M; 1:119917724-119917724	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1916-2A>G; p.?; 1:119959504-119959504	central_nervous_system; brain	glioma	Unknown
c.3598G>T; p.G1200C; 1:119935529-119935529	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6223G>A; p.V2075M; 1:119916499-119916499	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7258G>T; p.E2420*; 1:119915464-119915464	salivary_gland	carcinoma; adenoid_cystic_carcinoma	Substitution - Nonsense
c.6223G>A; p.V2075M; 1:119916499-119916499	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2369A>G; p.Y790C; 1:119950834-119950834	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6223G>A; p.V2075M; 1:119916499-119916499	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6223G>A; p.V2075M; 1:119916499-119916499	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.6222C>T; p.T2074T; 1:119916500-119916500	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2369A>G; p.Y790C; 1:119950834-119950834	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.6223G>A; p.V2075M; 1:119916499-119916499	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6222C>T; p.T2074T; 1:119916500-119916500	breast	carcinoma	Substitution - coding silent
c.4002C>T; p.P1334P; 1:119926502-119926502	skin	malignant_melanoma	Substitution - coding silent
c.5791C>T; p.R1931C; 1:119918544-119918544	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2219G>A; p.G740E; 1:119955040-119955040	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3201C>A; p.C1067*; 1:119937993-119937993	breast	carcinoma	Substitution - Nonsense
c.377G>T; p.R126L; 1:120005367-120005367	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.312A>G; p.S104S; 1:120005432-120005432	skin	malignant_melanoma	Substitution - coding silent
c.5624G>A; p.R1875Q; 1:119919469-119919469	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.4002C>T; p.P1334P; 1:119926502-119926502	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.6909_6910insC; p.I2304fs*9; 1:119915812-119915813	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Insertion - Frameshift
c.6909_6910insC; p.I2304fs*9; 1:119915812-119915813	breast	carcinoma	Insertion - Frameshift
c.2844A>C; p.T948T; 1:119941663-119941663	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3309C>T; p.V1103V; 1:119937885-119937885	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.6909_6910insC; p.I2304fs*9; 1:119915812-119915813	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Insertion - Frameshift
c.5831G>T; p.G1944V; 1:119918504-119918504	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.6909_6910insC; p.I2304fs*9; 1:119915812-119915813	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Insertion - Frameshift
c.2256C>T; p.I752I; 1:119953652-119953652	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2980_2981delAG; p.S994fs*10; 1:119941526-119941527	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Deletion - Frameshift
c.7143C>T; p.G2381G; 1:119915579-119915579	breast	carcinoma	Substitution - coding silent
c.3374T>G; p.V1125G; 1:119937430-119937430	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.7086C>T; p.D2362D; 1:119915636-119915636	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4094G>A; p.R1365H; 1:119925722-119925722	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.15C>G; p.R5R; 1:120069392-120069392	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - coding silent
c.7086C>T; p.D2362D; 1:119915636-119915636	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.7377G>C; p.M2459I; 1:119915345-119915345	thyroid	other; neoplasm	Substitution - Missense
c.5093T>A; p.I1698N; 1:119922356-119922356	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.989G>A; p.W330*; 1:119969630-119969630	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.6902T>A; p.L2301*; 1:119915820-119915820	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Nonsense
c.3415delC; p.L1139fs*68; 1:119937389-119937389	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.5166C>T; p.S1722S; 1:119922283-119922283	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.7342G>T; p.A2448S; 1:119915380-119915380	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.4578_4579GT>AA; p.C1527S; 1:119923917-119923918	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7181C>T; p.S2394F; 1:119915541-119915541	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.435G>C; p.T145T; 1:119997313-119997313	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.5065A>T; p.I1689F; 1:119922384-119922384	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6920_6921insA; p.F2307fs*6; 1:119915801-119915802	salivary_gland	carcinoma; adenoid_cystic_carcinoma	Insertion - Frameshift
c.3473G>A; p.C1158Y; 1:119937331-119937331	liver	carcinoma	Substitution - Missense
c.4334G>A; p.S1445N; 1:119925482-119925482	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3473G>A; p.C1158Y; 1:119937331-119937331	liver	carcinoma	Substitution - Missense
c.1325G>C; p.C442S; 1:119967561-119967561	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5179C>T; p.R1727C; 1:119922270-119922270	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.6189_6190TG>AT; p.D2063_E2064>E*; 1:119916532-119916533	skin; head_neck	carcinoma; squamous_cell_carcinoma	Complex - compound substitution
c.4278G>C; p.L1426L; 1:119925538-119925538	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5657G>A; p.R1886H; 1:119919436-119919436	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3011A>C; p.D1004A; 1:119940727-119940727	liver	carcinoma	Substitution - Missense
c.5089_5090insG; p.V1697fs*9; 1:119922359-119922360	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3011A>C; p.D1004A; 1:119940727-119940727	liver	carcinoma	Substitution - Missense
c.4489C>T; p.Q1497*; 1:119925327-119925327	skin; arm	malignant_melanoma	Substitution - Nonsense
c.5123C>G; p.S1708C; 1:119922326-119922326	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.991A>G; p.S331G; 1:119969628-119969628	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2894C>G; p.S965C; 1:119941613-119941613	breast	carcinoma	Substitution - Missense
c.1261A>G; p.M421V; 1:119968080-119968080	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6932_6933insC; p.K2312fs*1; 1:119915789-119915790	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Insertion - Frameshift
c.1475A>G; p.E492G; 1:119966468-119966468	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6909delC; p.I2304fs*2; 1:119915813-119915813	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.5479+2T>C; p.?; 1:119920227-119920227	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Unknown
c.6836delA; p.H2279fs*4; 1:119915886-119915886	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Deletion - Frameshift
c.4544A>G; p.D1515G; 1:119923952-119923952	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.414A>T; p.T138T; 1:120005330-120005330	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.6565C>T; p.P2189S; 1:119916157-119916157	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6791_6794delACAA; p.Y2264fs*18; 1:119915928-119915931	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Deletion - Frameshift
c.7198C>A; p.R2400R; 1:119915524-119915524	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2124C>T; p.C708C; 1:119955135-119955135	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1697T>C; p.L566S; 1:119963792-119963792	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2326G>A; p.V776M; 1:119953582-119953582	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6896_6896delA; p.E2299fs*7; 1:119915826-119915826	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Deletion - Frameshift
c.1281T>C; p.C427C; 1:119967605-119967605	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.6896_6896delA; p.E2299fs*7; 1:119915826-119915826	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Deletion - Frameshift
c.537T>A; p.C179*; 1:119997211-119997211	prostate	carcinoma; adenocarcinoma	Substitution - Nonsense
c.6821C>T; p.P2274L; 1:119915901-119915901	skin	malignant_melanoma	Substitution - Missense
c.4541A>G; p.K1514R; 1:119923955-119923955	breast	carcinoma	Substitution - Missense
c.6457T>A; p.S2153T; 1:119916265-119916265	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.4304G>A; p.R1435Q; 1:119925512-119925512	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2044G>C; p.D682H; 1:119955215-119955215	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5110C>T; p.R1704C; 1:119922339-119922339	pancreas	carcinoma	Substitution - Missense
c.751+7A>C; p.?; 1:119996990-119996990	liver	carcinoma	Unknown
c.6724A>C; p.S2242R; 1:119915998-119915998	prostate	carcinoma	Substitution - Missense
c.8C>T; p.A3V; 1:120069399-120069399	ovary	other; neoplasm	Substitution - Missense
c.8C>T; p.A3V; 1:120069399-120069399	urinary_tract; bladder	carcinoma	Substitution - Missense
c.8C>T; p.A3V; 1:120069399-120069399	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.8C>T; p.A3V; 1:120069399-120069399	prostate	carcinoma	Substitution - Missense
c.8C>T; p.A3V; 1:120069399-120069399	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.8C>T; p.A3V; 1:120069399-120069399	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.8C>T; p.A3V; 1:120069399-120069399	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.8C>T; p.A3V; 1:120069399-120069399	NS	malignant_melanoma	Substitution - Missense
c.8C>T; p.A3V; 1:120069399-120069399	ovary	other; neoplasm	Substitution - Missense
c.8C>T; p.A3V; 1:120069399-120069399	NS	malignant_melanoma	Substitution - Missense
c.8C>T; p.A3V; 1:120069399-120069399	pancreas	carcinoma	Substitution - Missense
c.4246G>T; p.A1416S; 1:119925570-119925570	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4131C>T; p.G1377G; 1:119925685-119925685	skin	malignant_melanoma	Substitution - coding silent
c.1108+1G>A; p.?; 1:119969510-119969510	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.8C>T; p.A3V; 1:120069399-120069399	pancreas	carcinoma	Substitution - Missense
c.4044A>T; p.Q1348H; 1:119925772-119925772	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5523C>T; p.S1841S; 1:119919570-119919570	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2136_2137CC>TT; p.H713Y; 1:119955122-119955123	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6224T>C; p.V2075A; 1:119916498-119916498	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5792G>A; p.R1931H; 1:119918543-119918543	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3451G>A; p.D1151N; 1:119937353-119937353	liver	carcinoma	Substitution - Missense
c.3451G>A; p.D1151N; 1:119937353-119937353	liver	carcinoma	Substitution - Missense
c.7063A>C; p.T2355P; 1:119915659-119915659	breast	carcinoma	Substitution - Missense
c.6106C>T; p.R2036*; 1:119916616-119916616	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4169A>C; p.H1390P; 1:119925647-119925647	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.7081C>T; p.Q2361*; 1:119915641-119915641	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Nonsense
c.5623C>T; p.R1875W; 1:119919470-119919470	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1880A>G; p.N627S; 1:119963609-119963609	oesophagus	carcinoma	Substitution - Missense
c.5623C>T; p.R1875W; 1:119919470-119919470	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1681G>T; p.G561C; 1:119965453-119965453	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6107G>A; p.R2036Q; 1:119916615-119916615	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1480G>C; p.E494Q; 1:119966463-119966463	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2504C>T; p.A835V; 1:119949102-119949102	skin	malignant_melanoma	Substitution - Missense
c.2185T>C; p.C729R; 1:119955074-119955074	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1605C>A; p.D535E; 1:119965529-119965529	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5564_5564delC; p.S1855fs*75; 1:119919529-119919529	ovary	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.2288C>T; p.S763L; 1:119953620-119953620	skin	malignant_melanoma	Substitution - Missense
c.3505G>A; p.G1169S; 1:119937299-119937299	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.19G>C; p.A7P; 1:120069388-120069388	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6476C>T; p.T2159M; 1:119916246-119916246	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1651_1652CC>TT; p.P551L; 1:119965482-119965483	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1304A>G; p.N435S; 1:119967582-119967582	pleura	pulmonary_blastoma	Substitution - Missense
c.99A>G; p.E33E; 1:120029962-120029962	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1182C>T; p.P394P; 1:119968159-119968159	skin	malignant_melanoma	Substitution - coding silent
c.854G>A; p.R285H; 1:119986980-119986980	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4750C>T; p.Q1584*; 1:119923746-119923746	lung	carcinoma; non_small_cell_carcinoma	Substitution - Nonsense
c.4750C>T; p.Q1584*; 1:119923746-119923746	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3401A>G; p.Y1134C; 1:119937403-119937403	oesophagus	carcinoma	Substitution - Missense
c.639C>T; p.F213F; 1:119997109-119997109	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.4254delC; p.S1419fs*8; 1:119925562-119925562	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4548C>A; p.N1516K; 1:119923948-119923948	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.639C>T; p.F213F; 1:119997109-119997109	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3409T>C; p.C1137R; 1:119937395-119937395	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3589C>T; p.Q1197*; 1:119935538-119935538	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1362G>C; p.E454D; 1:119967524-119967524	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1362G>C; p.E454D; 1:119967524-119967524	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2576G>A; p.C859Y; 1:119949030-119949030	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.7030G>T; p.E2344*; 1:119915692-119915692	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Nonsense
c.4772C>T; p.P1591L; 1:119923724-119923724	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.246G>T; p.Q82H; 1:120005498-120005498	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.17_18delCC; p.P6fs*27; 1:120069389-120069390	kidney	Wilms_tumour	Deletion - Frameshift
c.17_18delCC; p.P6fs*27; 1:120069389-120069390	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.17_18delCC; p.P6fs*27; 1:120069389-120069390	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; NK-T_cell_lymphoma	Deletion - Frameshift
c.17_18delCC; p.P6fs*27; 1:120069389-120069390	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.17_18delCC; p.P6fs*27; 1:120069389-120069390	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Deletion - Frameshift
c.17_18delCC; p.P6fs*27; 1:120069389-120069390	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Deletion - Frameshift
c.17_18delCC; p.P6fs*27; 1:120069389-120069390	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.17_18delCC; p.P6fs*27; 1:120069389-120069390	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.17_18delCC; p.P6fs*27; 1:120069389-120069390	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.17_18delCC; p.P6fs*27; 1:120069389-120069390	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Deletion - Frameshift
c.17_18delCC; p.P6fs*27; 1:120069389-120069390	oesophagus; upper_third	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.17_18delCC; p.P6fs*27; 1:120069389-120069390	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.568G>A; p.G190R; 1:119997180-119997180	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5747C>T; p.A1916V; 1:119919346-119919346	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.7030G>A; p.E2344K; 1:119915692-119915692	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4318G>C; p.D1440H; 1:119925498-119925498	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4347G>C; p.Q1449H; 1:119925469-119925469	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1089G>C; p.M363I; 1:119969530-119969530	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.986G>T; p.G329V; 1:119969633-119969633	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5251G>T; p.G1751C; 1:119921772-119921772	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6655C>T; p.P2219S; 1:119916067-119916067	skin	malignant_melanoma	Substitution - Missense
c.1671G>A; p.Q557Q; 1:119965463-119965463	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6655C>T; p.P2219S; 1:119916067-119916067	skin	malignant_melanoma	Substitution - Missense
c.6655C>T; p.P2219S; 1:119916067-119916067	skin	malignant_melanoma	Substitution - Missense
c.7003C>T; p.P2335S; 1:119915719-119915719	skin	malignant_melanoma	Substitution - Missense
c.6909_6909delC; p.I2304fs*2; 1:119915813-119915813	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Deletion - Frameshift
c.6404_6408delTGAGT; p.L2135fs*7; 1:119916314-119916318	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Deletion - Frameshift
c.852C>A; p.C284*; 1:119986982-119986982	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Nonsense
c.5123C>T; p.S1708F; 1:119922326-119922326	kidney	Wilms_tumour	Substitution - Missense
c.6379A>T; p.K2127*; 1:119916343-119916343	skin	malignant_melanoma	Substitution - Nonsense
c.5094C>T; p.I1698I; 1:119922355-119922355	skin	malignant_melanoma	Substitution - coding silent
c.6418C>T; p.Q2140*; 1:119916304-119916304	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Nonsense
c.6909_6909delC; p.I2304fs*2; 1:119915813-119915813	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Deletion - Frameshift
c.6909_6909delC; p.I2304fs*2; 1:119915813-119915813	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Deletion - Frameshift
c.2763G>A; p.Q921Q; 1:119941744-119941744	breast	carcinoma	Substitution - coding silent
c.7021C>T; p.Q2341*; 1:119915701-119915701	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Nonsense
c.2084C>A; p.A695E; 1:119955175-119955175	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.7021C>T; p.Q2341*; 1:119915701-119915701	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Nonsense
c.3437G>A; p.C1146Y; 1:119937367-119937367	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3396G>A; p.T1132T; 1:119937408-119937408	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2127C>T; p.P709P; 1:119955132-119955132	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.7281T>G; p.S2427R; 1:119915441-119915441	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7039C>T; p.R2347C; 1:119915683-119915683	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6721_6724delTTGA; p.L2241fs*13; 1:119915998-119916001	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Deletion - Frameshift
c.6514T>A; p.S2172T; 1:119916208-119916208	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1923T>C; p.N641N; 1:119959495-119959495	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1698G>T; p.L566F; 1:119963791-119963791	breast	carcinoma	Substitution - Missense
c.5781+1G>A; p.?; 1:119919311-119919311	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.537T>C; p.C179C; 1:119997211-119997211	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1309G>C; p.D437H; 1:119967577-119967577	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4888C>G; p.R1630G; 1:119922750-119922750	breast	carcinoma	Substitution - Missense
c.7357C>T; p.R2453W; 1:119915365-119915365	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4005+1G>A; p.?; 1:119926498-119926498	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.7256_7257delCA; p.P2419fs*4; 1:119915465-119915466	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Deletion - Frameshift
c.3158delT; p.L1053fs*12; 1:119940580-119940580	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.1524G>A; p.Q508Q; 1:119966419-119966419	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3236T>C; p.V1079A; 1:119937958-119937958	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1957C>A; p.P653T; 1:119959461-119959461	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.5684G>A; p.R1895H; 1:119919409-119919409	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.7300T>C; p.S2434P; 1:119915422-119915422	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1832G>A; p.C611Y; 1:119963657-119963657	oesophagus	carcinoma	Substitution - Missense
c.2790G>A; p.V930V; 1:119941717-119941717	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.614A>G; p.Y205C; 1:119997134-119997134	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2548G>T; p.E850*; 1:119949058-119949058	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.5134C>T; p.P1712S; 1:119922315-119922315	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3206G>T; p.R1069L; 1:119937988-119937988	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4644T>C; p.V1548V; 1:119923852-119923852	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3206G>T; p.R1069L; 1:119937988-119937988	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.1264G>A; p.A422T; 1:119968077-119968077	breast	carcinoma	Substitution - Missense
c.5512C>T; p.R1838*; 1:119919581-119919581	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5512C>T; p.R1838*; 1:119919581-119919581	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1032C>T; p.F344F; 1:119969587-119969587	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.6733C>T; p.H2245Y; 1:119915989-119915989	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.651C>T; p.Y217Y; 1:119997097-119997097	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3116C>T; p.T1039M; 1:119940622-119940622	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2570A>G; p.Y857C; 1:119949036-119949036	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7320C>T; p.T2440T; 1:119915402-119915402	skin	malignant_melanoma	Substitution - coding silent
c.4561G>A; p.G1521R; 1:119923935-119923935	skin	malignant_melanoma	Substitution - Missense
c.3116C>T; p.T1039M; 1:119940622-119940622	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3246_3247insA; p.A1083fs*17; 1:119937947-119937948	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3246_3247insA; p.A1083fs*17; 1:119937947-119937948	large_intestine; rectum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.4403_4404CC>TT; p.S1468F; 1:119925412-119925413	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.628C>T; p.P210S; 1:119997120-119997120	liver	carcinoma	Substitution - Missense
c.1460A>T; p.K487I; 1:119966483-119966483	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.628C>T; p.P210S; 1:119997120-119997120	liver	carcinoma	Substitution - Missense
c.2379G>T; p.Q793H; 1:119950824-119950824	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5527G>C; p.D1843H; 1:119919566-119919566	urinary_tract; bladder	carcinoma	Substitution - Missense
c.7078C>T; p.Q2360*; 1:119915644-119915644	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Nonsense
c.659G>A; p.S220N; 1:119997089-119997089	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.7090C>T; p.Q2364*; 1:119915632-119915632	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Nonsense
c.1331G>T; p.C444F; 1:119967555-119967555	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6939C>T; p.G2313G; 1:119915783-119915783	pancreas	carcinoma	Substitution - coding silent
c.6772G>T; p.E2258*; 1:119915950-119915950	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Nonsense
c.1586delG; p.C529fs*14; 1:119965548-119965548	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.5663C>G; p.S1888*; 1:119919430-119919430	lung	carcinoma; non_small_cell_carcinoma	Substitution - Nonsense
c.3149G>C; p.S1050T; 1:119940589-119940589	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5218C>T; p.L1740F; 1:119921805-119921805	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1406C>T; p.A469V; 1:119967480-119967480	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.5227C>G; p.Q1743E; 1:119921796-119921796	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.7231G>T; p.E2411*; 1:119915491-119915491	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Nonsense
c.680C>A; p.P227H; 1:119997068-119997068	liver	carcinoma	Substitution - Missense
c.7231G>T; p.E2411*; 1:119915491-119915491	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Nonsense
c.4533C>T; p.D1511D; 1:119923963-119923963	skin; neck	malignant_melanoma	Substitution - coding silent
c.4888C>T; p.R1630C; 1:119922750-119922750	pancreas	carcinoma	Substitution - Missense
c.5351T>A; p.I1784N; 1:119920357-119920357	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4888C>T; p.R1630C; 1:119922750-119922750	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4888C>T; p.R1630C; 1:119922750-119922750	skin; upper_leg	malignant_melanoma	Substitution - Missense
c.1463G>A; p.G488D; 1:119966480-119966480	skin; ear	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1801G>T; p.G601C; 1:119963688-119963688	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.671C>T; p.P224L; 1:119997077-119997077	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3329C>T; p.S1110F; 1:119937865-119937865	breast	carcinoma	Substitution - Missense
c.1801G>T; p.G601C; 1:119963688-119963688	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5537A>G; p.D1846G; 1:119919556-119919556	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.15C>T; p.R5R; 1:120069392-120069392	thyroid	other; neoplasm	Substitution - coding silent
c.15C>T; p.R5R; 1:120069392-120069392	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.15C>T; p.R5R; 1:120069392-120069392	thyroid	other; neoplasm	Substitution - coding silent
c.15C>T; p.R5R; 1:120069392-120069392	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2745C>T; p.C915C; 1:119948421-119948421	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1145delA; p.N382fs*14; 1:119968196-119968196	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.1429G>C; p.G477R; 1:119967457-119967457	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5903C>T; p.A1968V; 1:119918432-119918432	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.7175_7176insA; p.Y2392fs*1; 1:119915546-119915547	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Insertion - Frameshift
c.6394A>T; p.K2132*; 1:119916328-119916328	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Nonsense
c.7175_7176insA; p.Y2392fs*1; 1:119915546-119915547	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Insertion - Frameshift
c.4750C>A; p.Q1584K; 1:119923746-119923746	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.6486C>T; p.S2162S; 1:119916236-119916236	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.6830G>A; p.G2277D; 1:119915892-119915892	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5637G>A; p.M1879I; 1:119919456-119919456	lung	carcinoma; undifferentiated_carcinoma	Substitution - Missense
c.342C>T; p.P114P; 1:120005402-120005402	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1385C>G; p.S462*; 1:119967501-119967501	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1192C>T; p.Q398*; 1:119968149-119968149	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1969G>T; p.G657*; 1:119959449-119959449	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.579G>A; p.Q193Q; 1:119997169-119997169	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1385C>G; p.S462*; 1:119967501-119967501	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4996G>T; p.V1666F; 1:119922642-119922642	breast	carcinoma	Substitution - Missense
c.4999G>A; p.V1667I; 1:119922639-119922639	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3691C>G; p.R1231G; 1:119929177-119929177	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4999G>A; p.V1667I; 1:119922639-119922639	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Missense
c.6930C>T; p.I2310I; 1:119915792-119915792	skin	malignant_melanoma	Substitution - coding silent
c.2788G>T; p.V930L; 1:119941719-119941719	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.623A>C; p.Q208P; 1:119997125-119997125	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7G>T; p.A3S; 1:120069400-120069400	ovary	other; neoplasm	Substitution - Missense
c.4879A>G; p.I1627V; 1:119922759-119922759	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.7G>T; p.A3S; 1:120069400-120069400	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7G>T; p.A3S; 1:120069400-120069400	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.7G>T; p.A3S; 1:120069400-120069400	ovary	other; neoplasm	Substitution - Missense
c.4900C>T; p.Q1634*; 1:119922738-119922738	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.4293C>T; p.A1431A; 1:119925523-119925523	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5904G>A; p.A1968A; 1:119918431-119918431	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.4403C>T; p.S1468F; 1:119925413-119925413	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3895C>T; p.R1299W; 1:119926609-119926609	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.4534C>T; p.H1512Y; 1:119923962-119923962	skin; neck	malignant_melanoma	Substitution - Missense
c.1252G>A; p.E418K; 1:119968089-119968089	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1252G>A; p.E418K; 1:119968089-119968089	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4450T>G; p.C1484G; 1:119925366-119925366	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3470C>A; p.P1157H; 1:119937334-119937334	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1147C>A; p.P383T; 1:119968194-119968194	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6463_6463delG; p.E2155fs*15; 1:119916259-119916259	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Deletion - Frameshift
c.1754A>G; p.Q585R; 1:119963735-119963735	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6853C>T; p.Q2285*; 1:119915869-119915869	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Nonsense
c.5185C>T; p.P1729S; 1:119922264-119922264	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - Missense
c.874G>A; p.G292R; 1:119986960-119986960	urinary_tract; bladder	carcinoma	Substitution - Missense
c.6206C>T; p.P2069L; 1:119916516-119916516	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5692G>A; p.D1898N; 1:119919401-119919401	urinary_tract; bladder	carcinoma	Substitution - Missense
c.6853C>T; p.Q2285*; 1:119915869-119915869	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Nonsense
c.4488C>T; p.C1496C; 1:119925328-119925328	skin; arm	malignant_melanoma	Substitution - coding silent
c.5639C>T; p.A1880V; 1:119919454-119919454	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6314G>T; p.R2105L; 1:119916408-119916408	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6314G>T; p.R2105L; 1:119916408-119916408	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5338G>A; p.E1780K; 1:119920370-119920370	breast	carcinoma	Substitution - Missense
c.57C>G; p.C19W; 1:120069350-120069350	haematopoietic_and_lymphoid_tissue; central_nervous_system	lymphoid_neoplasm; primary_central_nervous_system_lymphoma	Substitution - Missense
c.57C>G; p.C19W; 1:120069350-120069350	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1015A>G; p.I339V; 1:119969604-119969604	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.57C>G; p.C19W; 1:120069350-120069350	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.57C>G; p.C19W; 1:120069350-120069350	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.57C>G; p.C19W; 1:120069350-120069350	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.57C>G; p.C19W; 1:120069350-120069350	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Substitution - Missense
c.57C>G; p.C19W; 1:120069350-120069350	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.57C>G; p.C19W; 1:120069350-120069350	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.57C>G; p.C19W; 1:120069350-120069350	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.57C>G; p.C19W; 1:120069350-120069350	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.57C>G; p.C19W; 1:120069350-120069350	haematopoietic_and_lymphoid_tissue; central_nervous_system	lymphoid_neoplasm; primary_central_nervous_system_lymphoma	Substitution - Missense
c.5356C>T; p.R1786*; 1:119920352-119920352	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.57C>G; p.C19W; 1:120069350-120069350	thyroid	other; neoplasm	Substitution - Missense
c.57C>G; p.C19W; 1:120069350-120069350	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.57C>G; p.C19W; 1:120069350-120069350	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.57C>G; p.C19W; 1:120069350-120069350	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.57C>G; p.C19W; 1:120069350-120069350	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.889G>A; p.E297K; 1:119969730-119969730	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.984C>T; p.N328N; 1:119969635-119969635	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.6864delA; p.P2289fs*6; 1:119915858-119915858	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Deletion - Frameshift
c.984C>T; p.N328N; 1:119969635-119969635	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4018G>T; p.A1340S; 1:119925798-119925798	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3705C>T; p.C1235C; 1:119929163-119929163	skin	malignant_melanoma	Substitution - coding silent
c.467delG; p.G156fs*240; 1:119997281-119997281	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.7235_7235delA; p.H2412fs*4; 1:119915487-119915487	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Deletion - Frameshift
c.6889C>T; p.P2297S; 1:119915833-119915833	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6304A>T; p.K2102*; 1:119916418-119916418	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Nonsense
c.703A>T; p.T235S; 1:119997045-119997045	breast	carcinoma	Substitution - Missense
c.752-2A>G; p.?; 1:119987084-119987084	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.6421C>T; p.L2141L; 1:119916301-119916301	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2972G>T; p.C991F; 1:119941535-119941535	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5708C>T; p.A1903V; 1:119919385-119919385	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2888_2889CC>TT; p.T963I; 1:119941618-119941619	skin	malignant_melanoma	Substitution - Missense
c.3246delA; p.A1083fs*25; 1:119937948-119937948	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.3865C>T; p.L1289L; 1:119929003-119929003	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4911C>T; p.D1637D; 1:119922727-119922727	skin	malignant_melanoma	Substitution - coding silent
c.2402C>T; p.S801L; 1:119950801-119950801	breast	carcinoma	Substitution - Missense
c.1502A>G; p.N501S; 1:119966441-119966441	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4947C>T; p.L1649L; 1:119922691-119922691	skin	malignant_melanoma	Substitution - coding silent
c.6446C>T; p.S2149F; 1:119916276-119916276	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6446C>T; p.S2149F; 1:119916276-119916276	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1926T>A; p.C642*; 1:119959492-119959492	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.942C>T; p.T314T; 1:119969677-119969677	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.7163C>G; p.S2388*; 1:119915559-119915559	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Nonsense
c.7308G>A; p.W2436*; 1:119915414-119915414	haematopoietic_and_lymphoid_tissue; small_intestine	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Nonsense
c.166G>A; p.G56S; 1:120005578-120005578	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7308G>A; p.W2436*; 1:119915414-119915414	haematopoietic_and_lymphoid_tissue; small_intestine	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Nonsense
c.5664A>G; p.S1888S; 1:119919429-119919429	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.7378T>C; p.S2460P; 1:119915344-119915344	thyroid	other; neoplasm	Substitution - Missense
c.7308G>A; p.W2436*; 1:119915414-119915414	haematopoietic_and_lymphoid_tissue; leg	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Nonsense
c.6531G>T; p.Q2177H; 1:119916191-119916191	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6665G>T; p.S2222I; 1:119916057-119916057	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1063G>A; p.D355N; 1:119969556-119969556	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.361_362insT; p.C121fs*10; 1:120005382-120005383	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.3142C>T; p.R1048C; 1:119940596-119940596	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.5053G>T; p.A1685S; 1:119922396-119922396	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.5192G>A; p.G1731E; 1:119922257-119922257	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1412G>T; p.C471F; 1:119967474-119967474	oesophagus	carcinoma	Substitution - Missense
c.5192G>A; p.G1731E; 1:119922257-119922257	lung	carcinoma; bronchioloalveolar_adenocarcinoma	Substitution - Missense
c.2298C>T; p.C766C; 1:119953610-119953610	skin	malignant_melanoma	Substitution - coding silent
c.3897G>A; p.R1299R; 1:119926607-119926607	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1141A>C; p.S381R; 1:119968200-119968200	prostate	carcinoma	Substitution - Missense
c.4201C>T; p.Q1401*; 1:119925615-119925615	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.7226_7238del13; p.Q2409fs*3; 1:119915484-119915496	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Deletion - Frameshift
c.4808_4809delAG; p.R1604fs*9; 1:119923687-119923688	ovary	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4826C>T; p.S1609F; 1:119923670-119923670	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.337C>T; p.R113*; 1:120005407-120005407	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.337C>T; p.R113*; 1:120005407-120005407	skin	malignant_melanoma	Substitution - Nonsense
c.337C>T; p.R113*; 1:120005407-120005407	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.337C>T; p.R113*; 1:120005407-120005407	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Nonsense
c.527G>T; p.G176V; 1:119997221-119997221	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2167G>T; p.E723*; 1:119955092-119955092	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3178T>G; p.C1060G; 1:119940560-119940560	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2479G>A; p.G827S; 1:119950724-119950724	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2566_2567delAG; p.S856fs*17; 1:119949039-119949040	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.4815G>A; p.M1605I; 1:119923681-119923681	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.4001C>T; p.P1334L; 1:119926503-119926503	skin	malignant_melanoma	Substitution - Missense
c.362G>A; p.C121Y; 1:120005382-120005382	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4912C>T; p.H1638Y; 1:119922726-119922726	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4815G>A; p.M1605I; 1:119923681-119923681	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4912C>T; p.H1638Y; 1:119922726-119922726	haematopoietic_and_lymphoid_tissue; extranodal	lymphoid_neoplasm; MALT_lymphoma	Substitution - Missense
c.4160delG; p.G1387fs*40; 1:119925656-119925656	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.6354C>T; p.N2118N; 1:119916368-119916368	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.6834_6834C>GCACG; p.P2280fs*12; 1:119915888-119915888	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Complex - frameshift
c.4743G>T; p.R1581R; 1:119923753-119923753	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.6838C>T; p.P2280S; 1:119915884-119915884	skin	malignant_melanoma	Substitution - Missense
c.6833C>T; p.T2278I; 1:119915889-119915889	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2603A>C; p.Q868P; 1:119948563-119948563	pancreas	carcinoma	Substitution - Missense
c.5374C>T; p.Q1792*; 1:119920334-119920334	skin	malignant_melanoma	Substitution - Nonsense
c.1653G>A; p.P551P; 1:119965481-119965481	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.454C>T; p.P152S; 1:119997294-119997294	skin	malignant_melanoma	Substitution - Missense
c.3412C>T; p.P1138S; 1:119937392-119937392	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2901delC; p.Y967fs*1; 1:119941606-119941606	breast	carcinoma	Deletion - Frameshift
c.2161G>T; p.V721L; 1:119955098-119955098	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.695A>G; p.N232S; 1:119997053-119997053	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1354C>T; p.R452C; 1:119967532-119967532	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1562C>A; p.P521H; 1:119966381-119966381	thyroid	other; neoplasm	Substitution - Missense
c.1761T>C; p.G587G; 1:119963728-119963728	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.956A>G; p.N319S; 1:119969663-119969663	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.451C>T; p.H151Y; 1:119997297-119997297	breast	carcinoma	Substitution - Missense
c.3177C>G; p.N1059K; 1:119940561-119940561	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.534A>G; p.K178K; 1:119997214-119997214	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.534A>G; p.K178K; 1:119997214-119997214	liver	carcinoma	Substitution - coding silent
c.2507C>A; p.P836H; 1:119949099-119949099	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2141A>G; p.H714R; 1:119955118-119955118	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6477G>A; p.T2159T; 1:119916245-119916245	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.6373G>A; p.D2125N; 1:119916349-119916349	pancreas	carcinoma	Substitution - Missense
c.5724C>T; p.N1908N; 1:119919369-119919369	ovary	other; neoplasm	Substitution - coding silent
c.6373G>A; p.D2125N; 1:119916349-119916349	pancreas	carcinoma	Substitution - Missense
c.6373G>A; p.D2125N; 1:119916349-119916349	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.4834G>A; p.G1612S; 1:119923662-119923662	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.6985C>T; p.P2329S; 1:119915737-119915737	kidney	Wilms_tumour	Substitution - Missense
c.7072A>G; p.M2358V; 1:119915650-119915650	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Missense
c.7037C>T; p.A2346V; 1:119915685-119915685	skin	malignant_melanoma	Substitution - Missense
c.2426C>A; p.T809N; 1:119950777-119950777	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4929G>A; p.T1643T; 1:119922709-119922709	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.61G>A; p.A21T; 1:120069346-120069346	urinary_tract; bladder	carcinoma	Substitution - Missense
c.61G>A; p.A21T; 1:120069346-120069346	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.61G>A; p.A21T; 1:120069346-120069346	peritoneum; appendix	other; pseudomyxoma_peritonei	Substitution - Missense
c.61G>A; p.A21T; 1:120069346-120069346	breast	carcinoma	Substitution - Missense
c.61G>A; p.A21T; 1:120069346-120069346	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.61G>A; p.A21T; 1:120069346-120069346	thyroid	other; neoplasm	Substitution - Missense
c.61G>A; p.A21T; 1:120069346-120069346	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.61G>A; p.A21T; 1:120069346-120069346	urinary_tract; bladder	carcinoma	Substitution - Missense
c.61G>A; p.A21T; 1:120069346-120069346	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.61G>A; p.A21T; 1:120069346-120069346	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.61G>A; p.A21T; 1:120069346-120069346	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.61G>A; p.A21T; 1:120069346-120069346	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.61G>A; p.A21T; 1:120069346-120069346	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.61G>A; p.A21T; 1:120069346-120069346	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.61G>A; p.A21T; 1:120069346-120069346	urinary_tract; bladder	carcinoma	Substitution - Missense
c.61G>A; p.A21T; 1:120069346-120069346	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.61G>A; p.A21T; 1:120069346-120069346	breast	carcinoma	Substitution - Missense
c.61G>A; p.A21T; 1:120069346-120069346	urinary_tract; bladder	carcinoma	Substitution - Missense
c.61G>A; p.A21T; 1:120069346-120069346	liver	carcinoma	Substitution - Missense
c.61G>A; p.A21T; 1:120069346-120069346	urinary_tract; bladder	carcinoma	Substitution - Missense
c.61G>A; p.A21T; 1:120069346-120069346	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.61G>A; p.A21T; 1:120069346-120069346	breast	carcinoma	Substitution - Missense
c.61G>A; p.A21T; 1:120069346-120069346	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.61G>A; p.A21T; 1:120069346-120069346	urinary_tract; bladder	carcinoma	Substitution - Missense
c.61G>A; p.A21T; 1:120069346-120069346	urinary_tract; bladder	carcinoma	Substitution - Missense
c.61G>A; p.A21T; 1:120069346-120069346	urinary_tract; bladder	carcinoma	Substitution - Missense
c.61G>A; p.A21T; 1:120069346-120069346	urinary_tract; bladder	carcinoma	Substitution - Missense
c.61G>A; p.A21T; 1:120069346-120069346	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.7337G>T; p.G2446V; 1:119915385-119915385	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5696C>T; p.A1899V; 1:119919397-119919397	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5150_5151delTT; p.L1717fs*11; 1:119922298-119922299	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.5399G>A; p.R1800H; 1:119920309-119920309	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2704G>T; p.G902C; 1:119948462-119948462	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2605C>T; p.R869W; 1:119948561-119948561	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3691C>T; p.R1231W; 1:119929177-119929177	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2605C>T; p.R869W; 1:119948561-119948561	central_nervous_system; brain	glioma	Substitution - Missense
c.4356G>A; p.G1452G; 1:119925460-119925460	skin	malignant_melanoma	Substitution - coding silent
c.5236G>T; p.E1746*; 1:119921787-119921787	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2546_2547delAA; p.K849fs*6; 1:119949059-119949060	pancreas	carcinoma; acinar_carcinoma	Deletion - Frameshift
c.2546_2547delAA; p.K849fs*6; 1:119949059-119949060	central_nervous_system; brain	glioma; astrocytoma_Grade_III	Deletion - Frameshift
c.2546_2547delAA; p.K849fs*6; 1:119949059-119949060	breast	other; fibroadenoma	Deletion - Frameshift
c.4761C>T; p.L1587L; 1:119923735-119923735	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5556G>T; p.E1852D; 1:119919537-119919537	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4155C>T; p.H1385H; 1:119925661-119925661	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4155C>T; p.H1385H; 1:119925661-119925661	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5683C>T; p.R1895C; 1:119919410-119919410	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5152C>T; p.R1718C; 1:119922297-119922297	skin	malignant_melanoma	Substitution - Missense
c.757G>C; p.E253Q; 1:119987077-119987077	urinary_tract; bladder	carcinoma	Substitution - Missense
c.5683C>T; p.R1895C; 1:119919410-119919410	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.1803C>T; p.G601G; 1:119963686-119963686	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4221G>A; p.S1407S; 1:119925595-119925595	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4889G>A; p.R1630H; 1:119922749-119922749	breast	carcinoma	Substitution - Missense
c.835G>A; p.V279I; 1:119986999-119986999	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2480-1G>T; p.?; 1:119949127-119949127	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown

Mutation summary in protein domains

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The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

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Loss of Function mutations compare to missense mutations

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The copy number variations for various cancers

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COSMIC somatic mutation [Top]