Entrez Gene

Basic Information
Gene ID	3096
Name	HIVEP1
Synonymous	human immunodeficiency virus type I enhancer binding protein 1;HIVEP1;human immunodeficiency virus type I enhancer binding protein 1
Definition	cirhin interaction protein\|gate keeper of apoptosis-activating protein\|major histocompatibility complex binding protein 1\|positive regulatory domain II binding factor 1\|zinc finger protein 40
Position	6p24-p22.3
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 0.08.

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.2944T>A; p.C982S; 6:12122739-12122739	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2753C>G; p.S918C; 6:12122548-12122548	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3979G>A; p.V1327I; 6:12123774-12123774	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7667C>T; p.P2556L; 6:12163971-12163971	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4531G>A; p.D1511N; 6:12124326-12124326	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.4531G>A; p.D1511N; 6:12124326-12124326	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4389A>G; p.P1463P; 6:12124184-12124184	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1496G>T; p.G499V; 6:12121291-12121291	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7367G>A; p.G2456E; 6:12163671-12163671	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4235G>A; p.R1412Q; 6:12124030-12124030	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2014G>A; p.D672N; 6:12121809-12121809	skin	malignant_melanoma	Substitution - Missense
c.3555C>T; p.H1185H; 6:12123350-12123350	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3555C>T; p.H1185H; 6:12123350-12123350	skin	malignant_melanoma	Substitution - coding silent
c.125C>T; p.S42L; 6:12119920-12119920	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.125C>T; p.S42L; 6:12119920-12119920	breast	carcinoma	Substitution - Missense
c.2896A>C; p.N966H; 6:12122691-12122691	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.7000C>T; p.P2334S; 6:12163304-12163304	skin	malignant_melanoma	Substitution - Missense
c.1702G>T; p.V568F; 6:12121497-12121497	liver	carcinoma	Substitution - Missense
c.1702G>T; p.V568F; 6:12121497-12121497	liver	carcinoma	Substitution - Missense
c.6521G>A; p.G2174E; 6:12161472-12161472	skin	malignant_melanoma	Substitution - Missense
c.851A>G; p.Y284C; 6:12120646-12120646	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.7968A>G; p.Q2656Q; 6:12164272-12164272	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.7823G>A; p.R2608Q; 6:12164127-12164127	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.5855C>T; p.S1952L; 6:12125650-12125650	liver	carcinoma	Substitution - Missense
c.5855C>T; p.S1952L; 6:12125650-12125650	liver	carcinoma	Substitution - Missense
c.4271G>C; p.R1424T; 6:12124066-12124066	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.8119A>G; p.S2707G; 6:12164423-12164423	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1465G>A; p.V489I; 6:12121260-12121260	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.3G>A; p.M1I; 6:12015631-12015631	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1465G>A; p.V489I; 6:12121260-12121260	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.5246C>T; p.S1749F; 6:12125041-12125041	skin	malignant_melanoma	Substitution - Missense
c.7175C>T; p.S2392L; 6:12163479-12163479	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5246C>T; p.S1749F; 6:12125041-12125041	skin	malignant_melanoma	Substitution - Missense
c.2591G>A; p.S864N; 6:12122386-12122386	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4050C>T; p.G1350G; 6:12123845-12123845	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.5329G>A; p.V1777M; 6:12125124-12125124	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.6682A>T; p.T2228S; 6:12161633-12161633	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7930G>A; p.V2644M; 6:12164234-12164234	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3793C>G; p.R1265G; 6:12123588-12123588	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1357A>G; p.K453E; 6:12121152-12121152	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.6430T>G; p.C2144G; 6:12135835-12135835	pancreas	carcinoma	Substitution - Missense
c.6430T>G; p.C2144G; 6:12135835-12135835	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.2575C>T; p.H859Y; 6:12122370-12122370	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2207G>A; p.R736H; 6:12122002-12122002	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7026C>T; p.P2342P; 6:12163330-12163330	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2055A>G; p.T685T; 6:12121850-12121850	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3032T>C; p.L1011P; 6:12122827-12122827	skin	malignant_melanoma	Substitution - Missense
c.4280G>T; p.G1427V; 6:12124075-12124075	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2992G>A; p.E998K; 6:12122787-12122787	urinary_tract; bladder	carcinoma	Substitution - Missense
c.7230C>T; p.G2410G; 6:12163534-12163534	pancreas	carcinoma	Substitution - coding silent
c.7230C>T; p.G2410G; 6:12163534-12163534	pancreas	carcinoma	Substitution - coding silent
c.3334A>G; p.M1112V; 6:12123129-12123129	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7230C>T; p.G2410G; 6:12163534-12163534	pancreas	carcinoma	Substitution - coding silent
c.2584A>G; p.R862G; 6:12122379-12122379	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5461C>T; p.P1821S; 6:12125256-12125256	breast	carcinoma	Substitution - Missense
c.6623C>A; p.S2208*; 6:12161574-12161574	breast	carcinoma	Substitution - Nonsense
c.2584A>G; p.R862G; 6:12122379-12122379	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1604C>T; p.P535L; 6:12121399-12121399	skin	malignant_melanoma	Substitution - Missense
c.1957G>A; p.D653N; 6:12121752-12121752	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6464A>T; p.D2155V; 6:12135869-12135869	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.248C>A; p.S83Y; 6:12120043-12120043	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6095A>G; p.K2032R; 6:12129778-12129778	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.6157G>C; p.E2053Q; 6:12129840-12129840	skin	malignant_melanoma	Substitution - Missense
c.3063C>G; p.I1021M; 6:12122858-12122858	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2760T>G; p.D920E; 6:12122555-12122555	skin	malignant_melanoma	Substitution - Missense
c.2233G>A; p.E745K; 6:12122028-12122028	liver	carcinoma	Substitution - Missense
c.274G>C; p.E92Q; 6:12120069-12120069	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2233G>A; p.E745K; 6:12122028-12122028	liver	carcinoma	Substitution - Missense
c.791T>A; p.V264D; 6:12120586-12120586	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4504A>G; p.N1502D; 6:12124299-12124299	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7035A>C; p.A2345A; 6:12163339-12163339	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.5382G>T; p.K1794N; 6:12125177-12125177	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7920G>A; p.S2640S; 6:12164224-12164224	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.6576C>T; p.D2192D; 6:12161527-12161527	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - coding silent
c.6331A>G; p.T2111A; 6:12130888-12130888	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6576C>T; p.D2192D; 6:12161527-12161527	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3326C>T; p.S1109L; 6:12123121-12123121	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3326C>T; p.S1109L; 6:12123121-12123121	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.6697A>G; p.R2233G; 6:12161648-12161648	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1923G>A; p.T641T; 6:12121718-12121718	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.6697A>G; p.R2233G; 6:12161648-12161648	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.3749A>G; p.Q1250R; 6:12123544-12123544	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1923G>A; p.T641T; 6:12121718-12121718	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2982G>A; p.M994I; 6:12122777-12122777	urinary_tract; bladder	carcinoma	Substitution - Missense
c.8G>A; p.R3Q; 6:12015636-12015636	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.8G>A; p.R3Q; 6:12015636-12015636	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1148T>G; p.V383G; 6:12120943-12120943	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.8G>A; p.R3Q; 6:12015636-12015636	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.8G>A; p.R3Q; 6:12015636-12015636	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6511G>C; p.E2171Q; 6:12161462-12161462	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7086G>A; p.K2362K; 6:12163390-12163390	skin	malignant_melanoma	Substitution - coding silent
c.3563G>A; p.R1188Q; 6:12123358-12123358	skin	malignant_melanoma	Substitution - Missense
c.4487C>G; p.S1496*; 6:12124282-12124282	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.5831G>A; p.W1944*; 6:12125626-12125626	skin	malignant_melanoma	Substitution - Nonsense
c.3966A>T; p.L1322F; 6:12123761-12123761	kidney	other; neoplasm	Substitution - Missense
c.181A>C; p.K61Q; 6:12119976-12119976	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2639T>C; p.V880A; 6:12122434-12122434	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.8006C>T; p.S2669F; 6:12164310-12164310	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2639T>C; p.V880A; 6:12122434-12122434	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1378A>G; p.I460V; 6:12121173-12121173	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4997A>T; p.N1666I; 6:12124792-12124792	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3007C>T; p.P1003S; 6:12122802-12122802	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3878C>G; p.S1293*; 6:12123673-12123673	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4605G>A; p.T1535T; 6:12124400-12124400	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.537C>T; p.C179C; 6:12120332-12120332	oesophagus	carcinoma	Substitution - coding silent
c.2173G>A; p.G725R; 6:12121968-12121968	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5614C>T; p.R1872*; 6:12125409-12125409	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1463A>T; p.D488V; 6:12121258-12121258	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.7407C>T; p.I2469I; 6:12163711-12163711	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1439C>G; p.P480R; 6:12121234-12121234	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1474A>T; p.S492C; 6:12121269-12121269	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1148T>C; p.V383A; 6:12120943-12120943	breast	carcinoma	Substitution - Missense
c.727G>T; p.A243S; 6:12120522-12120522	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2305C>T; p.P769S; 6:12122100-12122100	skin	malignant_melanoma	Substitution - Missense
c.51A>G; p.E17E; 6:12089194-12089194	liver	carcinoma	Substitution - coding silent
c.64G>T; p.E22*; 6:12089207-12089207	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2306C>T; p.P769L; 6:12122101-12122101	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5080C>T; p.Q1694*; 6:12124875-12124875	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.722T>C; p.M241T; 6:12120517-12120517	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3909C>T; p.S1303S; 6:12123704-12123704	skin	malignant_melanoma	Substitution - coding silent
c.6445G>A; p.V2149I; 6:12135850-12135850	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6445G>A; p.V2149I; 6:12135850-12135850	pancreas	carcinoma	Substitution - Missense
c.3155C>T; p.P1052L; 6:12122950-12122950	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2677C>T; p.P893S; 6:12122472-12122472	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1295G>C; p.R432P; 6:12121090-12121090	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.5821A>G; p.N1941D; 6:12125616-12125616	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5821A>G; p.N1941D; 6:12125616-12125616	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3600C>T; p.D1200D; 6:12123395-12123395	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2004A>G; p.L668L; 6:12121799-12121799	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2004A>G; p.L668L; 6:12121799-12121799	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4162T>C; p.F1388L; 6:12123957-12123957	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.6515G>A; p.R2172Q; 6:12161466-12161466	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4781A>G; p.H1594R; 6:12124576-12124576	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.7299C>T; p.V2433V; 6:12163603-12163603	liver	carcinoma	Substitution - coding silent
c.1417T>G; p.L473V; 6:12121212-12121212	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1492G>T; p.E498*; 6:12121287-12121287	skin	malignant_melanoma	Substitution - Nonsense
c.6581A>T; p.D2194V; 6:12161532-12161532	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1502C>G; p.T501S; 6:12121297-12121297	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7192A>G; p.M2398V; 6:12163496-12163496	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.176T>C; p.L59P; 6:12119971-12119971	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4931T>A; p.V1644D; 6:12124726-12124726	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2144C>T; p.T715I; 6:12121939-12121939	skin	malignant_melanoma	Substitution - Missense
c.6274G>C; p.E2092Q; 6:12130831-12130831	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5913C>T; p.S1971S; 6:12125708-12125708	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.6226G>C; p.E2076Q; 6:12130783-12130783	oesophagus	carcinoma	Substitution - Missense
c.4961C>T; p.S1654F; 6:12124756-12124756	skin	malignant_melanoma	Substitution - Missense
c.8013T>C; p.V2671V; 6:12164317-12164317	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.3793C>T; p.R1265C; 6:12123588-12123588	liver	carcinoma	Substitution - Missense
c.3793C>T; p.R1265C; 6:12123588-12123588	liver	carcinoma	Substitution - Missense
c.6755C>T; p.A2252V; 6:12161706-12161706	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.5475T>C; p.N1825N; 6:12125270-12125270	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4455G>A; p.Q1485Q; 6:12124250-12124250	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.7832_7833insA; p.V2614fs*10; 6:12164136-12164137	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.7832_7833insA; p.V2614fs*10; 6:12164136-12164137	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.6954_6955insG; p.A2321fs*19; 6:12161905-12161906	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Insertion - Frameshift
c.3357A>T; p.A1119A; 6:12123152-12123152	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.5856G>A; p.S1952S; 6:12125651-12125651	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1439C>T; p.P480L; 6:12121234-12121234	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.389C>T; p.S130F; 6:12120184-12120184	skin	malignant_melanoma	Substitution - Missense
c.3875C>T; p.S1292F; 6:12123670-12123670	pancreas	carcinoma	Substitution - Missense
c.6342C>T; p.R2114R; 6:12130899-12130899	skin	malignant_melanoma	Substitution - coding silent
c.3887C>T; p.S1296L; 6:12123682-12123682	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.3786G>A; p.W1262*; 6:12123581-12123581	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4027G>A; p.E1343K; 6:12123822-12123822	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5545A>G; p.I1849V; 6:12125340-12125340	breast	carcinoma	Substitution - Missense
c.7531C>T; p.H2511Y; 6:12163835-12163835	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4195_4196delAC; p.P1400fs*3; 6:12123990-12123991	thyroid	carcinoma; medullary_carcinoma	Deletion - Frameshift
c.4004A>G; p.K1335R; 6:12123799-12123799	pancreas	carcinoma	Substitution - Missense
c.4004A>G; p.K1335R; 6:12123799-12123799	pancreas	carcinoma	Substitution - Missense
c.6249G>A; p.R2083R; 6:12130806-12130806	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4951A>T; p.T1651S; 6:12124746-12124746	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2812A>G; p.K938E; 6:12122607-12122607	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3046G>T; p.A1016S; 6:12122841-12122841	breast	carcinoma	Substitution - Missense
c.6777C>T; p.V2259V; 6:12161728-12161728	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1119C>T; p.I373I; 6:12120914-12120914	skin	malignant_melanoma	Substitution - coding silent
c.7902C>T; p.D2634D; 6:12164206-12164206	skin	malignant_melanoma	Substitution - coding silent
c.4539T>G; p.N1513K; 6:12124334-12124334	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4886A>G; p.K1629R; 6:12124681-12124681	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4931T>C; p.V1644A; 6:12124726-12124726	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2645G>T; p.G882V; 6:12122440-12122440	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4931T>C; p.V1644A; 6:12124726-12124726	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.6539C>T; p.S2180F; 6:12161490-12161490	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5608A>C; p.T1870P; 6:12125403-12125403	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6820C>A; p.P2274T; 6:12161771-12161771	liver	carcinoma	Substitution - Missense
c.8110G>T; p.D2704Y; 6:12164414-12164414	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2007A>C; p.G669G; 6:12121802-12121802	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.532G>A; p.E178K; 6:12120327-12120327	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7315G>A; p.G2439S; 6:12163619-12163619	urinary_tract; bladder	carcinoma	Substitution - Missense
c.430C>T; p.R144C; 6:12120225-12120225	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7493T>C; p.I2498T; 6:12163797-12163797	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4209A>T; p.E1403D; 6:12124004-12124004	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2501T>C; p.L834S; 6:12122296-12122296	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.291G>T; p.Q97H; 6:12120086-12120086	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2501T>C; p.L834S; 6:12122296-12122296	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related	Substitution - Missense
c.1277G>A; p.R426H; 6:12121072-12121072	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.3596C>G; p.S1199*; 6:12123391-12123391	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1464C>T; p.D488D; 6:12121259-12121259	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.7638C>T; p.I2546I; 6:12163942-12163942	skin	malignant_melanoma	Substitution - coding silent
c.1620T>A; p.N540K; 6:12121415-12121415	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5756C>A; p.S1919Y; 6:12125551-12125551	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5756C>A; p.S1919Y; 6:12125551-12125551	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.272C>T; p.S91L; 6:12120067-12120067	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5668G>C; p.D1890H; 6:12125463-12125463	pancreas	carcinoma	Substitution - Missense
c.1302T>C; p.Y434Y; 6:12121097-12121097	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.6514C>T; p.R2172*; 6:12161465-12161465	breast	carcinoma	Substitution - Nonsense
c.5756C>A; p.S1919Y; 6:12125551-12125551	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1929C>T; p.H643H; 6:12121724-12121724	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.6638C>T; p.P2213L; 6:12161589-12161589	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.7499G>A; p.G2500D; 6:12163803-12163803	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1866C>T; p.S622S; 6:12121661-12121661	skin	malignant_melanoma	Substitution - coding silent
c.3041G>T; p.R1014I; 6:12122836-12122836	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.7612C>G; p.Q2538E; 6:12163916-12163916	oesophagus	carcinoma	Substitution - Missense
c.4307A>G; p.N1436S; 6:12124102-12124102	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.126G>A; p.S42S; 6:12119921-12119921	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4132A>G; p.M1378V; 6:12123927-12123927	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1401A>G; p.Q467Q; 6:12121196-12121196	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.7791C>T; p.T2597T; 6:12164095-12164095	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.4132A>G; p.M1378V; 6:12123927-12123927	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.5133A>G; p.S1711S; 6:12124928-12124928	liver	carcinoma	Substitution - coding silent
c.5133A>G; p.S1711S; 6:12124928-12124928	liver	carcinoma	Substitution - coding silent
c.4081C>T; p.R1361W; 6:12123876-12123876	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1991G>A; p.S664N; 6:12121786-12121786	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5575G>C; p.E1859Q; 6:12125370-12125370	liver	carcinoma	Substitution - Missense
c.3398_3399delTC; p.S1134fs*15; 6:12123193-12123194	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.6475A>C; p.T2159P; 6:12135880-12135880	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1199_1200insA; p.Q403fs*7; 6:12120994-12120995	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1364C>T; p.S455F; 6:12121159-12121159	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3908C>T; p.S1303F; 6:12123703-12123703	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1732C>T; p.P578S; 6:12121527-12121527	skin; shoulder	malignant_melanoma	Substitution - Missense
c.185T>C; p.I62T; 6:12119980-12119980	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.7371G>T; p.V2457V; 6:12163675-12163675	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3423C>T; p.S1141S; 6:12123218-12123218	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.5800C>T; p.P1934S; 6:12125595-12125595	skin	malignant_melanoma	Substitution - Missense
c.7921G>A; p.A2641T; 6:12164225-12164225	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2145C>T; p.T715T; 6:12121940-12121940	skin	malignant_melanoma	Substitution - coding silent
c.4559C>G; p.A1520G; 6:12124354-12124354	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4559C>G; p.A1520G; 6:12124354-12124354	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.5032C>A; p.P1678T; 6:12124827-12124827	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4559C>G; p.A1520G; 6:12124354-12124354	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.4354C>T; p.Q1452*; 6:12124149-12124149	skin	malignant_melanoma	Substitution - Nonsense
c.7666C>T; p.P2556S; 6:12163970-12163970	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.8110G>A; p.D2704N; 6:12164414-12164414	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1123A>C; p.N375H; 6:12120918-12120918	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.95-8T>G; p.?; 6:12119882-12119882	oesophagus	carcinoma; adenocarcinoma	Unknown
c.2358C>T; p.Y786Y; 6:12122153-12122153	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4121C>T; p.T1374M; 6:12123916-12123916	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1956C>A; p.T652T; 6:12121751-12121751	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.4856A>G; p.E1619G; 6:12124651-12124651	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1432G>A; p.E478K; 6:12121227-12121227	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2746G>A; p.G916R; 6:12122541-12122541	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.6688G>A; p.E2230K; 6:12161639-12161639	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4121C>T; p.T1374M; 6:12123916-12123916	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.1914C>T; p.H638H; 6:12121709-12121709	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4293G>A; p.R1431R; 6:12124088-12124088	skin	malignant_melanoma	Substitution - coding silent
c.4578C>T; p.S1526S; 6:12124373-12124373	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1342A>G; p.N448D; 6:12121137-12121137	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2219C>T; p.A740V; 6:12122014-12122014	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1411G>T; p.G471C; 6:12121206-12121206	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6814C>T; p.L2272F; 6:12161765-12161765	pancreas	carcinoma	Substitution - Missense
c.6444C>T; p.G2148G; 6:12135849-12135849	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2616C>T; p.G872G; 6:12122411-12122411	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4353C>T; p.F1451F; 6:12124148-12124148	skin	malignant_melanoma	Substitution - coding silent
c.5309G>T; p.G1770V; 6:12125104-12125104	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4353C>T; p.F1451F; 6:12124148-12124148	skin	malignant_melanoma	Substitution - coding silent
c.110G>C; p.G37A; 6:12119905-12119905	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8113G>A; p.V2705M; 6:12164417-12164417	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5159C>A; p.S1720*; 6:12124954-12124954	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.253G>A; p.A85T; 6:12120048-12120048	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1037C>T; p.T346I; 6:12120832-12120832	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.127G>T; p.E43*; 6:12119922-12119922	skin	malignant_melanoma	Substitution - Nonsense
c.2429C>T; p.P810L; 6:12122224-12122224	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2940T>G; p.F980L; 6:12122735-12122735	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.6031G>C; p.D2011H; 6:12125826-12125826	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1974G>T; p.Q658H; 6:12121769-12121769	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1276C>T; p.R426C; 6:12121071-12121071	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3423C>A; p.S1141S; 6:12123218-12123218	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3146G>T; p.G1049V; 6:12122941-12122941	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5354C>T; p.S1785L; 6:12125149-12125149	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5354C>T; p.S1785L; 6:12125149-12125149	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5354C>T; p.S1785L; 6:12125149-12125149	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4928G>T; p.S1643I; 6:12124723-12124723	bone	osteosarcoma	Substitution - Missense
c.5354C>T; p.S1785L; 6:12125149-12125149	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6620C>T; p.P2207L; 6:12161571-12161571	skin	malignant_melanoma	Substitution - Missense
c.5354C>T; p.S1785L; 6:12125149-12125149	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5354C>T; p.S1785L; 6:12125149-12125149	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5354C>T; p.S1785L; 6:12125149-12125149	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7990C>T; p.L2664L; 6:12164294-12164294	skin	malignant_melanoma	Substitution - coding silent
c.4659G>A; p.E1553E; 6:12124454-12124454	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.7361C>T; p.P2454L; 6:12163665-12163665	skin	malignant_melanoma	Substitution - Missense
c.1853C>T; p.T618I; 6:12121648-12121648	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3283C>T; p.L1095F; 6:12123078-12123078	skin	malignant_melanoma	Substitution - Missense
c.2894G>C; p.R965T; 6:12122689-12122689	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.7653G>A; p.L2551L; 6:12163957-12163957	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.566C>T; p.P189L; 6:12120361-12120361	skin	malignant_melanoma	Substitution - Missense
c.4164C>T; p.F1388F; 6:12123959-12123959	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4835C>T; p.S1612L; 6:12124630-12124630	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4835C>T; p.S1612L; 6:12124630-12124630	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4164C>A; p.F1388L; 6:12123959-12123959	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2019T>G; p.S673S; 6:12121814-12121814	skin	malignant_melanoma	Substitution - coding silent
c.2737C>A; p.L913I; 6:12122532-12122532	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4835C>T; p.S1612L; 6:12124630-12124630	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4164C>T; p.F1388F; 6:12123959-12123959	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3572C>T; p.S1191F; 6:12123367-12123367	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2368G>T; p.D790Y; 6:12122163-12122163	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6241C>T; p.R2081*; 6:12130798-12130798	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5428G>T; p.G1810C; 6:12125223-12125223	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5542G>A; p.V1848I; 6:12125337-12125337	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5635G>T; p.E1879*; 6:12125430-12125430	liver	carcinoma	Substitution - Nonsense
c.5635G>T; p.E1879*; 6:12125430-12125430	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.5635G>T; p.E1879*; 6:12125430-12125430	liver	carcinoma	Substitution - Nonsense
c.7811C>T; p.P2604L; 6:12164115-12164115	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6496C>G; p.Q2166E; 6:12161447-12161447	breast	carcinoma	Substitution - Missense
c.8145G>A; p.V2715V; 6:12164449-12164449	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.6931G>T; p.E2311*; 6:12161882-12161882	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.148C>T; p.R50C; 6:12119943-12119943	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; essential_thrombocythaemia	Substitution - Missense
c.7204delG; p.I2404fs*57; 6:12163508-12163508	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4701C>A; p.F1567L; 6:12124496-12124496	breast	carcinoma	Substitution - Missense
c.3537C>A; p.I1179I; 6:12123332-12123332	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3063C>T; p.I1021I; 6:12122858-12122858	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1747C>A; p.P583T; 6:12121542-12121542	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7135C>G; p.H2379D; 6:12163439-12163439	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.890A>G; p.H297R; 6:12120685-12120685	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.7605C>T; p.P2535P; 6:12163909-12163909	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.7213C>T; p.H2405Y; 6:12163517-12163517	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2033G>A; p.R678H; 6:12121828-12121828	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.588C>T; p.F196F; 6:12120383-12120383	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1076C>G; p.S359*; 6:12120871-12120871	breast	carcinoma	Substitution - Nonsense
c.918T>C; p.G306G; 6:12120713-12120713	skin	malignant_melanoma	Substitution - coding silent
c.906G>C; p.P302P; 6:12120701-12120701	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.923C>A; p.T308K; 6:12120718-12120718	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2555C>T; p.A852V; 6:12122350-12122350	NS	NS	Substitution - Missense
c.2585G>A; p.R862K; 6:12122380-12122380	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1016C>T; p.P339L; 6:12120811-12120811	skin	malignant_melanoma	Substitution - Missense
c.4706C>T; p.S1569L; 6:12124501-12124501	breast	carcinoma	Substitution - Missense
c.3994G>A; p.A1332T; 6:12123789-12123789	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1800C>T; p.N600N; 6:12121595-12121595	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5442A>G; p.E1814E; 6:12125237-12125237	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.6344C>T; p.P2115L; 6:12130901-12130901	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4369_4370CC>TT; p.P1457F; 6:12124164-12124165	skin	malignant_melanoma	Substitution - Missense
c.6344C>T; p.P2115L; 6:12130901-12130901	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.6344C>T; p.P2115L; 6:12130901-12130901	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4021A>G; p.K1341E; 6:12123816-12123816	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6344C>T; p.P2115L; 6:12130901-12130901	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.6344C>T; p.P2115L; 6:12130901-12130901	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4369_4370CC>TT; p.P1457F; 6:12124164-12124165	skin	malignant_melanoma	Substitution - Missense
c.6344C>T; p.P2115L; 6:12130901-12130901	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2551C>T; p.P851S; 6:12122346-12122346	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.6344C>T; p.P2115L; 6:12130901-12130901	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.6128C>T; p.A2043V; 6:12129811-12129811	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3085A>C; p.R1029R; 6:12122880-12122880	skin	malignant_melanoma	Substitution - coding silent
c.6529C>T; p.L2177F; 6:12161480-12161480	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.584C>T; p.A195V; 6:12120379-12120379	stomach	adenocarcinoma	Substitution - Missense
c.3704C>T; p.P1235L; 6:12123499-12123499	skin	malignant_melanoma	Substitution - Missense
c.7686C>T; p.A2562A; 6:12163990-12163990	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.200T>A; p.L67Q; 6:12119995-12119995	liver	carcinoma	Substitution - Missense
c.200T>A; p.L67Q; 6:12119995-12119995	liver	carcinoma	Substitution - Missense
c.4927A>T; p.S1643C; 6:12124722-12124722	bone	osteosarcoma	Substitution - Missense
c.4160C>T; p.S1387L; 6:12123955-12123955	skin	malignant_melanoma	Substitution - Missense
c.1078A>G; p.I360V; 6:12120873-12120873	liver	carcinoma	Substitution - Missense
c.1078A>G; p.I360V; 6:12120873-12120873	liver	carcinoma	Substitution - Missense
c.5034A>G; p.P1678P; 6:12124829-12124829	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.7206G>T; p.G2402G; 6:12163510-12163510	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.5034A>G; p.P1678P; 6:12124829-12124829	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.5744A>G; p.Q1915R; 6:12125539-12125539	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.4868T>C; p.L1623P; 6:12124663-12124663	liver	carcinoma	Substitution - Missense
c.3500G>T; p.R1167I; 6:12123295-12123295	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2372C>G; p.S791C; 6:12122167-12122167	breast	carcinoma	Substitution - Missense
c.4715C>G; p.S1572C; 6:12124510-12124510	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.5245T>C; p.S1749P; 6:12125040-12125040	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4715C>G; p.S1572C; 6:12124510-12124510	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.6933A>G; p.E2311E; 6:12161884-12161884	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5189C>A; p.S1730Y; 6:12124984-12124984	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.564C>T; p.S188S; 6:12120359-12120359	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.926G>T; p.G309V; 6:12120721-12120721	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3990G>A; p.T1330T; 6:12123785-12123785	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.7737C>T; p.C2579C; 6:12164041-12164041	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4036A>G; p.M1346V; 6:12123831-12123831	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6195A>G; p.K2065K; 6:12129878-12129878	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.7478T>A; p.M2493K; 6:12163782-12163782	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.5113C>G; p.L1705V; 6:12124908-12124908	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2932A>T; p.K978*; 6:12122727-12122727	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5959G>A; p.A1987T; 6:12125754-12125754	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1930G>A; p.A644T; 6:12121725-12121725	breast	carcinoma	Substitution - Missense
c.1844G>T; p.R615M; 6:12121639-12121639	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2638G>A; p.V880I; 6:12122433-12122433	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2376C>T; p.F792F; 6:12122171-12122171	skin	malignant_melanoma	Substitution - coding silent
c.2333G>A; p.G778E; 6:12122128-12122128	ovary	other; neoplasm	Substitution - Missense
c.3087delA; p.R1031fs*4; 6:12122882-12122882	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.804T>C; p.A268A; 6:12120599-12120599	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.5764T>C; p.L1922L; 6:12125559-12125559	breast	carcinoma	Substitution - coding silent
c.187C>T; p.P63S; 6:12119982-12119982	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4827G>A; p.M1609I; 6:12124622-12124622	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.607A>G; p.M203V; 6:12120402-12120402	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4094G>A; p.R1365H; 6:12123889-12123889	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3487C>T; p.Q1163*; 6:12123282-12123282	NS	malignant_melanoma	Substitution - Nonsense
c.4827G>A; p.M1609I; 6:12124622-12124622	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3487C>T; p.Q1163*; 6:12123282-12123282	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Nonsense
c.4827G>A; p.M1609I; 6:12124622-12124622	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3487C>T; p.Q1163*; 6:12123282-12123282	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Nonsense
c.4827G>A; p.M1609I; 6:12124622-12124622	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3221A>G; p.N1074S; 6:12123016-12123016	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.4501A>C; p.T1501P; 6:12124296-12124296	urinary_tract; bladder	carcinoma	Substitution - Missense
c.7775A>G; p.N2592S; 6:12164079-12164079	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6286C>T; p.R2096C; 6:12130843-12130843	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4774A>G; p.T1592A; 6:12124569-12124569	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4774A>G; p.T1592A; 6:12124569-12124569	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.6718G>A; p.G2240R; 6:12161669-12161669	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3989C>T; p.T1330M; 6:12123784-12123784	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.7410C>T; p.G2470G; 6:12163714-12163714	skin	malignant_melanoma	Substitution - coding silent
c.8031C>T; p.G2677G; 6:12164335-12164335	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3009C>T; p.P1003P; 6:12122804-12122804	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.6583G>A; p.E2195K; 6:12161534-12161534	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4134G>T; p.M1378I; 6:12123929-12123929	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.443C>A; p.S148Y; 6:12120238-12120238	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5991A>G; p.K1997K; 6:12125786-12125786	liver	carcinoma	Substitution - coding silent
c.7345T>C; p.S2449P; 6:12163649-12163649	breast	carcinoma	Substitution - Missense
c.5991A>G; p.K1997K; 6:12125786-12125786	liver	carcinoma	Substitution - coding silent
c.2467G>C; p.V823L; 6:12122262-12122262	central_nervous_system; brain	glioma	Substitution - Missense
c.734A>G; p.N245S; 6:12120529-12120529	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7466C>T; p.P2489L; 6:12163770-12163770	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.1334C>A; p.T445N; 6:12121129-12121129	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.498T>C; p.S166S; 6:12120293-12120293	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.7466C>T; p.P2489L; 6:12163770-12163770	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.8077C>G; p.L2693V; 6:12164381-12164381	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7535C>T; p.P2512L; 6:12163839-12163839	skin	malignant_melanoma	Substitution - Missense
c.4064A>G; p.N1355S; 6:12123859-12123859	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1574C>T; p.A525V; 6:12121369-12121369	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1574C>T; p.A525V; 6:12121369-12121369	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1528G>A; p.A510T; 6:12121323-12121323	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.7538C>T; p.P2513L; 6:12163842-12163842	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2476C>T; p.L826L; 6:12122271-12122271	skin	malignant_melanoma	Substitution - coding silent
c.477C>T; p.L159L; 6:12120272-12120272	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.477C>T; p.L159L; 6:12120272-12120272	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.477C>T; p.L159L; 6:12120272-12120272	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3756T>C; p.H1252H; 6:12123551-12123551	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3843G>C; p.K1281N; 6:12123638-12123638	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1200_1201insA; p.Q403fs*7; 6:12120995-12120996	stomach	adenocarcinoma	Insertion - Frameshift
c.2681G>A; p.R894H; 6:12122476-12122476	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5940G>T; p.L1980F; 6:12125735-12125735	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2420C>T; p.S807F; 6:12122215-12122215	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2543C>T; p.S848L; 6:12122338-12122338	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3092G>A; p.R1031K; 6:12122887-12122887	skin	malignant_melanoma	Substitution - Missense
c.5915C>T; p.A1972V; 6:12125710-12125710	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5541C>T; p.V1847V; 6:12125336-12125336	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1801G>A; p.V601I; 6:12121596-12121596	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5096A>C; p.N1699T; 6:12124891-12124891	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3245A>C; p.Q1082P; 6:12123040-12123040	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2346C>T; p.S782S; 6:12122141-12122141	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.7528G>A; p.V2510I; 6:12163832-12163832	breast	carcinoma	Substitution - Missense
c.4986A>C; p.Q1662H; 6:12124781-12124781	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.139G>A; p.G47S; 6:12119934-12119934	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1759C>T; p.L587F; 6:12121554-12121554	skin	malignant_melanoma	Substitution - Missense
c.1622T>C; p.V541A; 6:12121417-12121417	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5652T>G; p.S1884S; 6:12125447-12125447	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.6323G>A; p.R2108Q; 6:12130880-12130880	breast	carcinoma	Substitution - Missense
c.3712T>C; p.L1238L; 6:12123507-12123507	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.1918G>A; p.G640R; 6:12121713-12121713	pancreas	carcinoma	Substitution - Missense
c.95-5delT; p.?; 6:12119885-12119885	lung	carcinoma; adenocarcinoma	Unknown
c.2240G>A; p.R747Q; 6:12122035-12122035	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2586A>G; p.R862R; 6:12122381-12122381	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2586A>G; p.R862R; 6:12122381-12122381	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.7843C>T; p.L2615L; 6:12164147-12164147	skin	malignant_melanoma	Substitution - coding silent
c.1753C>T; p.P585S; 6:12121548-12121548	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2586A>G; p.R862R; 6:12122381-12122381	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.44A>G; p.K15R; 6:12089187-12089187	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.6819T>A; p.S2273S; 6:12161770-12161770	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.3510G>T; p.K1170N; 6:12123305-12123305	thyroid	other; neoplasm	Substitution - Missense
c.7995G>A; p.L2665L; 6:12164299-12164299	breast	carcinoma	Substitution - coding silent
c.4657G>A; p.E1553K; 6:12124452-12124452	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5299G>C; p.D1767H; 6:12125094-12125094	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6586G>T; p.D2196Y; 6:12161537-12161537	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4042C>T; p.P1348S; 6:12123837-12123837	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2886A>C; p.E962D; 6:12122681-12122681	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2717C>T; p.S906L; 6:12122512-12122512	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1865C>T; p.S622F; 6:12121660-12121660	skin	malignant_melanoma	Substitution - Missense
c.1304C>T; p.P435L; 6:12121099-12121099	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5195G>A; p.G1732D; 6:12124990-12124990	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1631A>C; p.D544A; 6:12121426-12121426	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3606C>T; p.L1202L; 6:12123401-12123401	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2506A>T; p.I836F; 6:12122301-12122301	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.717T>C; p.S239S; 6:12120512-12120512	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4916G>A; p.R1639H; 6:12124711-12124711	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4916G>A; p.R1639H; 6:12124711-12124711	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense

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]