Entrez Gene

Basic Information
Gene ID	1969
Name	EPHA2
Synonymous	EPH receptor A2;EPHA2;EPH receptor A2
Definition	ephrin type-A receptor 2\|epithelial cell receptor protein tyrosine kinase\|soluble EPHA2 variant 1\|tyrosine-protein kinase receptor ECK
Position	1p36
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 0.18.

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.2547C>A; p.L849L; 1:16130348-16130348	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.883G>A; p.E295K; 1:16138371-16138371	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2874C>T; p.I958I; 1:16125272-16125272	thyroid	other; neoplasm	Substitution - coding silent
c.775C>T; p.Q259*; 1:16148426-16148426	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Nonsense
c.2874C>T; p.I958I; 1:16125272-16125272	thyroid	other; neoplasm	Substitution - coding silent
c.1519G>A; p.V507M; 1:16135099-16135099	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2062A>C; p.M688L; 1:16132431-16132431	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.1393C>T; p.R465*; 1:16135690-16135690	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.635C>T; p.P212L; 1:16148566-16148566	skin	malignant_melanoma	Substitution - Missense
c.2222C>T; p.A741V; 1:16132167-16132167	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1128C>T; p.C376C; 1:16138037-16138037	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.732T>C; p.R244R; 1:16148469-16148469	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.322T>C; p.F108L; 1:16148879-16148879	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2825+5G>T; p.?; 1:16129429-16129429	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; essential_thrombocythaemia	Unknown
c.1141G>A; p.A381T; 1:16138024-16138024	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1010C>T; p.A337V; 1:16138155-16138155	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.981delA; p.S330fs*63; 1:16138184-16138184	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1151G>A; p.R384H; 1:16138014-16138014	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1200C>T; p.S400S; 1:16137965-16137965	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.493G>A; p.V165M; 1:16148708-16148708	breast	carcinoma	Substitution - Missense
c.1329G>T; p.R443S; 1:16135754-16135754	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1223A>G; p.Y408C; 1:16137942-16137942	urinary_tract; bladder	carcinoma	Substitution - Missense
c.570G>A; p.A190A; 1:16148631-16148631	prostate	adenoma	Substitution - coding silent
c.824-1G>A; p.?; 1:16138431-16138431	stomach	carcinoma; adenocarcinoma	Unknown
c.1738G>C; p.E580Q; 1:16133860-16133860	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.205G>T; p.V69L; 1:16148996-16148996	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2736G>C; p.W912C; 1:16129523-16129523	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.823G>T; p.A275S; 1:16148378-16148378	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1911G>T; p.G637G; 1:16133322-16133322	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1940C>T; p.T647M; 1:16133293-16133293	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1383G>A; p.P461P; 1:16135700-16135700	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.579C>T; p.S193S; 1:16148622-16148622	skin	malignant_melanoma	Substitution - coding silent
c.762G>A; p.L254L; 1:16148439-16148439	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1359C>T; p.S453S; 1:16135724-16135724	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2273T>G; p.F758C; 1:16132116-16132116	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1233C>A; p.T411T; 1:16137932-16137932	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2285G>A; p.R762H; 1:16132104-16132104	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1918G>T; p.E640*; 1:16133315-16133315	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.2040C>T; p.G680G; 1:16133193-16133193	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2040C>T; p.G680G; 1:16133193-16133193	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.703G>T; p.V235L; 1:16148498-16148498	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2161C>T; p.R721W; 1:16132228-16132228	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1823T>G; p.I608S; 1:16133522-16133522	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1630G>A; p.G544S; 1:16134520-16134520	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2827G>A; p.D943N; 1:16125319-16125319	skin	malignant_melanoma	Substitution - Missense
c.503G>A; p.R168H; 1:16148698-16148698	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1805T>C; p.L602S; 1:16133540-16133540	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1532C>T; p.T511M; 1:16135086-16135086	prostate	carcinoma	Substitution - Missense
c.166C>T; p.Q56*; 1:16149035-16149035	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.717G>A; p.G239G; 1:16148484-16148484	pancreas	carcinoma	Substitution - coding silent
c.1987G>A; p.E663K; 1:16133246-16133246	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.2824G>A; p.D942N; 1:16129435-16129435	skin	malignant_melanoma	Substitution - Missense
c.1987G>A; p.E663K; 1:16133246-16133246	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2824G>A; p.D942N; 1:16129435-16129435	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2824G>A; p.D942N; 1:16129435-16129435	skin	malignant_melanoma	Substitution - Missense
c.1379delC; p.P460fs*33; 1:16135704-16135704	thyroid	carcinoma; anaplastic_carcinoma	Deletion - Frameshift
c.1379delC; p.P460fs*33; 1:16135704-16135704	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1379delC; p.P460fs*33; 1:16135704-16135704	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1379delC; p.P460fs*33; 1:16135704-16135704	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.942C>T; p.F314F; 1:16138312-16138312	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1379delC; p.P460fs*33; 1:16135704-16135704	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1379delC; p.P460fs*33; 1:16135704-16135704	oesophagus; lower_third	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1379delC; p.P460fs*33; 1:16135704-16135704	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1379delC; p.P460fs*33; 1:16135704-16135704	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.1938G>C; p.K646N; 1:16133295-16133295	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1969C>T; p.R657*; 1:16133264-16133264	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2030G>T; p.R677L; 1:16133203-16133203	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1617C>T; p.G539G; 1:16134533-16134533	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.922G>A; p.E308K; 1:16138332-16138332	pancreas	carcinoma	Substitution - Missense
c.2064G>T; p.M688I; 1:16132429-16132429	thyroid	other; neoplasm	Substitution - Missense
c.2601C>T; p.I867I; 1:16130294-16130294	breast	carcinoma	Substitution - coding silent
c.2601C>T; p.I867I; 1:16130294-16130294	breast	carcinoma	Substitution - coding silent
c.307C>T; p.R103C; 1:16148894-16148894	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.141G>A; p.P47P; 1:16150908-16150908	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1274G>A; p.R425H; 1:16137891-16137891	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.480C>T; p.H160H; 1:16148721-16148721	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1130G>T; p.G377V; 1:16138035-16138035	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2411G>A; p.G804D; 1:16131785-16131785	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1931C>T; p.A644V; 1:16133302-16133302	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1987G>T; p.E663*; 1:16133246-16133246	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.149A>G; p.K50R; 1:16150900-16150900	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1195G>A; p.V399M; 1:16137970-16137970	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.836G>A; p.G279E; 1:16138418-16138418	NS	malignant_melanoma	Substitution - Missense
c.1819G>A; p.E607K; 1:16133526-16133526	skin	malignant_melanoma	Substitution - Missense
c.836G>A; p.G279E; 1:16138418-16138418	NS	malignant_melanoma	Substitution - Missense
c.985C>T; p.P329S; 1:16138180-16138180	skin	malignant_melanoma	Substitution - Missense
c.1819G>A; p.E607K; 1:16133526-16133526	skin	malignant_melanoma	Substitution - Missense
c.810G>T; p.E270D; 1:16148391-16148391	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2563C>A; p.Q855K; 1:16130332-16130332	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1378C>T; p.P460S; 1:16135705-16135705	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1207G>A; p.E403K; 1:16137958-16137958	breast	carcinoma	Substitution - Missense
c.86-2A>G; p.?; 1:16150965-16150965	liver	carcinoma	Unknown
c.285C>T; p.F95F; 1:16148916-16148916	skin	malignant_melanoma	Substitution - coding silent
c.618_619GG>TT; p.Q206_G207>HC; 1:16148582-16148583	lung	carcinoma; adenocarcinoma	Complex - compound substitution
c.86-2A>G; p.?; 1:16150965-16150965	liver	carcinoma	Unknown
c.635delC; p.P212fs*181; 1:16148566-16148566	oesophagus	carcinoma; adenocarcinoma	Deletion - Frameshift
c.86-2A>G; p.?; 1:16150965-16150965	liver	carcinoma	Unknown
c.635delC; p.P212fs*181; 1:16148566-16148566	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.2536A>G; p.I846V; 1:16130359-16130359	bone; rib	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1988A>G; p.E663G; 1:16133245-16133245	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2520G>A; p.M840I; 1:16130375-16130375	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.261C>T; p.Y87Y; 1:16148940-16148940	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.765_766insG; p.P256fs*27; 1:16148435-16148436	skin	malignant_melanoma	Insertion - Frameshift
c.1252G>A; p.V418I; 1:16137913-16137913	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2481G>A; p.M827I; 1:16130414-16130414	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1618G>A; p.G540S; 1:16134532-16134532	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2481G>A; p.M827I; 1:16130414-16130414	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1343G>A; p.S448N; 1:16135740-16135740	prostate	carcinoma	Substitution - Missense
c.602G>T; p.C201F; 1:16148599-16148599	ovary	other; neoplasm	Substitution - Missense
c.602G>T; p.C201F; 1:16148599-16148599	ovary	other; neoplasm	Substitution - Missense
c.2719C>A; p.R907S; 1:16129540-16129540	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2329G>T; p.G777C; 1:16131867-16131867	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2228G>A; p.R743H; 1:16132161-16132161	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1429-2A>G; p.?; 1:16135191-16135191	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.409C>T; p.R137C; 1:16148792-16148792	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1090G>A; p.V364I; 1:16138075-16138075	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.334G>A; p.A112T; 1:16148867-16148867	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2041G>A; p.V681I; 1:16133192-16133192	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.507C>T; p.S169S; 1:16148694-16148694	pancreas	carcinoma; adenocarcinoma	Substitution - coding silent
c.1672A>T; p.I558F; 1:16134478-16134478	liver	carcinoma	Substitution - Missense
c.1243delC; p.R415fs*8; 1:16137922-16137922	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2629G>T; p.A877S; 1:16130266-16130266	prostate	adenoma	Substitution - Missense
c.738C>T; p.H246H; 1:16148463-16148463	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - coding silent
c.1228T>A; p.F410I; 1:16137937-16137937	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2246G>A; p.S749N; 1:16132143-16132143	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2298C>T; p.D766D; 1:16132091-16132091	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.188C>T; p.P63L; 1:16149013-16149013	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.440C>T; p.P147L; 1:16148761-16148761	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.440C>T; p.P147L; 1:16148761-16148761	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1859G>A; p.G620E; 1:16133486-16133486	skin	malignant_melanoma	Substitution - Missense
c.2612T>G; p.L871R; 1:16130283-16130283	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.418A>T; p.T140S; 1:16148783-16148783	skin	malignant_melanoma	Substitution - Missense
c.979+1G>A; p.?; 1:16138274-16138274	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Unknown
c.2301C>T; p.D767D; 1:16132088-16132088	breast	carcinoma	Substitution - coding silent
c.979+1G>A; p.?; 1:16138274-16138274	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1147G>A; p.V383M; 1:16138018-16138018	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2528C>T; p.P843L; 1:16130367-16130367	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2657A>G; p.D886G; 1:16130238-16130238	skin	malignant_melanoma	Substitution - Missense
c.1382C>T; p.P461L; 1:16135701-16135701	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2740G>T; p.E914*; 1:16129519-16129519	oesophagus	carcinoma	Substitution - Nonsense
c.1367G>A; p.W456*; 1:16135716-16135716	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2473G>T; p.E825*; 1:16131723-16131723	breast	carcinoma	Substitution - Nonsense
c.2227C>T; p.R743C; 1:16132162-16132162	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.836G>C; p.G279A; 1:16138418-16138418	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2447G>T; p.R816L; 1:16131749-16131749	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2061C>T; p.P687P; 1:16132432-16132432	skin	malignant_melanoma	Substitution - coding silent
c.1453C>T; p.R485C; 1:16135165-16135165	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.987C>T; p.P329P; 1:16138178-16138178	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.987C>T; p.P329P; 1:16138178-16138178	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.987C>T; p.P329P; 1:16138178-16138178	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.987C>T; p.P329P; 1:16138178-16138178	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1495C>A; p.P499T; 1:16135123-16135123	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2731G>A; p.E911K; 1:16129528-16129528	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1682G>T; p.R561M; 1:16134468-16134468	stomach	carcinoma	Substitution - Missense
c.2718C>T; p.F906F; 1:16129541-16129541	skin	malignant_melanoma	Substitution - coding silent
c.2277C>T; p.G759G; 1:16132112-16132112	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2021A>G; p.N674S; 1:16133212-16133212	pancreas	carcinoma	Substitution - Missense
c.2783C>A; p.A928D; 1:16129476-16129476	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.152G>C; p.G51A; 1:16150897-16150897	ovary	other; neoplasm	Substitution - Missense
c.2581C>T; p.R861C; 1:16130314-16130314	skin	malignant_melanoma	Substitution - Missense
c.2581C>T; p.R861C; 1:16130314-16130314	pancreas	carcinoma	Substitution - Missense
c.980G>T; p.R327L; 1:16138185-16138185	ovary	other; neoplasm	Substitution - Missense
c.2581C>T; p.R861C; 1:16130314-16130314	pancreas	carcinoma	Substitution - Missense
c.724G>A; p.E242K; 1:16148477-16148477	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.625G>A; p.A209T; 1:16148576-16148576	breast	carcinoma	Substitution - Missense
c.2095G>A; p.A699T; 1:16132398-16132398	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2116G>A; p.E706K; 1:16132273-16132273	skin	malignant_melanoma	Substitution - Missense
c.424A>G; p.I142V; 1:16148777-16148777	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2357C>T; p.P786L; 1:16131839-16131839	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1072G>T; p.E358*; 1:16138093-16138093	thyroid	other; neoplasm	Substitution - Nonsense
c.2303C>T; p.P768L; 1:16132086-16132086	skin	malignant_melanoma	Substitution - Missense
c.2723C>T; p.T908M; 1:16129536-16129536	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; essential_thrombocythaemia	Substitution - Missense
c.2785G>T; p.G929C; 1:16129474-16129474	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1703G>A; p.R568H; 1:16133895-16133895	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1457G>A; p.R486H; 1:16135161-16135161	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2450C>T; p.P817L; 1:16131746-16131746	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2143C>T; p.Q715*; 1:16132246-16132246	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Nonsense
c.2450C>T; p.P817L; 1:16131746-16131746	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2143C>T; p.Q715*; 1:16132246-16132246	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2143C>T; p.Q715*; 1:16132246-16132246	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2143C>T; p.Q715*; 1:16132246-16132246	large_intestine; colon	carcinoma	Substitution - Nonsense
c.2143C>T; p.Q715*; 1:16132246-16132246	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.769A>C; p.I257L; 1:16148432-16148432	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1473C>T; p.S491S; 1:16135145-16135145	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1274G>T; p.R425L; 1:16137891-16137891	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2614G>T; p.D872Y; 1:16130281-16130281	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1054C>G; p.Q352E; 1:16138111-16138111	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2531C>T; p.S844F; 1:16130364-16130364	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1752C>T; p.P584P; 1:16133593-16133593	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2447G>A; p.R816Q; 1:16131749-16131749	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1820A>C; p.E607A; 1:16133525-16133525	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.213C>T; p.N71N; 1:16148988-16148988	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.146G>A; p.G49D; 1:16150903-16150903	central_nervous_system; medulla	primitive_neuroectodermal_tumour-medulloblastoma; large_cell	Substitution - Missense
c.2060C>T; p.P687L; 1:16132433-16132433	skin	malignant_melanoma	Substitution - Missense
c.952C>T; p.Q318*; 1:16138302-16138302	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.2107T>C; p.F703L; 1:16132386-16132386	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1012G>A; p.V338M; 1:16138153-16138153	breast	carcinoma	Substitution - Missense
c.2374C>T; p.R792W; 1:16131822-16131822	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1516C>T; p.Q506*; 1:16135102-16135102	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1070G>A; p.R357H; 1:16138095-16138095	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.917C>T; p.S306F; 1:16138337-16138337	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2127C>T; p.G709G; 1:16132262-16132262	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.906G>A; p.E302E; 1:16138348-16138348	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1654G>A; p.A552T; 1:16134496-16134496	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.155G>A; p.W52*; 1:16149046-16149046	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1373delT; p.I458fs*35; 1:16135710-16135710	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.715G>A; p.G239R; 1:16148486-16148486	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2369C>T; p.S790F; 1:16131827-16131827	skin	malignant_melanoma	Substitution - Missense
c.2369C>T; p.S790F; 1:16131827-16131827	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2369C>T; p.S790F; 1:16131827-16131827	skin	malignant_melanoma	Substitution - Missense
c.1472C>T; p.S491F; 1:16135146-16135146	skin	malignant_melanoma	Substitution - Missense
c.832C>T; p.P278S; 1:16138422-16138422	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.843T>A; p.F281L; 1:16138411-16138411	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1678C>T; p.R560C; 1:16134472-16134472	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1678C>T; p.R560C; 1:16134472-16134472	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2525G>A; p.C842Y; 1:16130370-16130370	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2329G>A; p.G777S; 1:16131867-16131867	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2329G>A; p.G777S; 1:16131867-16131867	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.764T>G; p.V255G; 1:16148437-16148437	thyroid	other; neoplasm	Substitution - Missense
c.764T>G; p.V255G; 1:16148437-16148437	thyroid	other; neoplasm	Substitution - Missense
c.1488C>T; p.D496D; 1:16135130-16135130	skin	malignant_melanoma	Substitution - coding silent
c.764T>G; p.V255G; 1:16148437-16148437	thyroid	other; neoplasm	Substitution - Missense
c.1625_1631delCTGTCGG; p.A542fs*39; 1:16134519-16134525	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.1983C>T; p.L661L; 1:16133250-16133250	thyroid	other; neoplasm	Substitution - coding silent
c.398A>G; p.N133S; 1:16148803-16148803	NS	malignant_melanoma	Substitution - Missense
c.2227C>G; p.R743G; 1:16132162-16132162	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.921C>T; p.C307C; 1:16138333-16138333	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.830C>T; p.S277L; 1:16138424-16138424	eye; uveal_tract	malignant_melanoma; spindle	Substitution - Missense
c.2869C>T; p.R957C; 1:16125277-16125277	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.260A>G; p.Y87C; 1:16148941-16148941	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.260A>G; p.Y87C; 1:16148941-16148941	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1926G>A; p.P642P; 1:16133307-16133307	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.719delG; p.G240fs*153; 1:16148482-16148482	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.719delG; p.G240fs*153; 1:16148482-16148482	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1549delG; p.A517fs*21; 1:16135069-16135069	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.719delG; p.G240fs*153; 1:16148482-16148482	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.2711T>G; p.V904G; 1:16129548-16129548	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1462G>A; p.E488K; 1:16135156-16135156	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2711T>G; p.V904G; 1:16129548-16129548	skin	malignant_melanoma	Substitution - Missense
c.2914G>C; p.V972L; 1:16125232-16125232	prostate	carcinoma	Substitution - Missense
c.2287G>A; p.V763M; 1:16132102-16132102	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.754G>A; p.E252K; 1:16148447-16148447	skin	malignant_melanoma	Substitution - Missense
c.653C>G; p.S218C; 1:16148548-16148548	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2217C>T; p.D739D; 1:16132172-16132172	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2125G>A; p.G709S; 1:16132264-16132264	large_intestine; colon	carcinoma; 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]