Entrez Gene

Basic Information
Gene ID	171024
Name	SYNPO2
Synonymous	synaptopodin 2;SYNPO2;synaptopodin 2
Definition	genethonin-2\|myopodin\|synaptopodin-2
Position	4q26
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 0.09.

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.3391C>T; p.P1131S; 4:119057539-119057539	skin	malignant_melanoma	Substitution - Missense
c.899G>A; p.R300K; 4:119027268-119027268	NS	malignant_melanoma	Substitution - Missense
c.2856G>C; p.K952N; 4:119031631-119031631	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1023G>A; p.S341S; 4:119027392-119027392	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2599G>A; p.G867R; 4:119031374-119031374	skin	malignant_melanoma	Substitution - Missense
c.1984G>A; p.D662N; 4:119030759-119030759	skin	malignant_melanoma	Substitution - Missense
c.1801_1802insC; p.F603fs*13; 4:119030576-119030577	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1818C>T; p.T606T; 4:119030593-119030593	skin	malignant_melanoma	Substitution - coding silent
c.728C>T; p.S243L; 4:119027097-119027097	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1638G>A; p.T546T; 4:119030413-119030413	liver	carcinoma	Substitution - coding silent
c.1638G>A; p.T546T; 4:119030413-119030413	liver	carcinoma	Substitution - coding silent
c.728C>T; p.S243L; 4:119027097-119027097	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1638G>A; p.T546T; 4:119030413-119030413	liver	carcinoma	Substitution - coding silent
c.728C>T; p.S243L; 4:119027097-119027097	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3160C>T; p.P1054S; 4:119031935-119031935	skin	malignant_melanoma	Substitution - Missense
c.728C>T; p.S243L; 4:119027097-119027097	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2898G>A; p.K966K; 4:119031673-119031673	skin	malignant_melanoma	Substitution - coding silent
c.847C>T; p.R283W; 4:119027216-119027216	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1204C>T; p.R402W; 4:119029979-119029979	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.614A>T; p.Q205L; 4:119026983-119026983	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1646C>A; p.S549Y; 4:119030421-119030421	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2916C>A; p.L972L; 4:119031691-119031691	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3587G>T; p.R1196M; 4:119057735-119057735	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1103A>T; p.Q368L; 4:119029878-119029878	skin	malignant_melanoma	Substitution - Missense
c.132G>T; p.G44G; 4:119023456-119023456	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.837G>C; p.A279A; 4:119027206-119027206	ovary	other; neoplasm	Substitution - coding silent
c.2474C>T; p.A825V; 4:119031249-119031249	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1557C>A; p.S519R; 4:119030332-119030332	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3051G>A; p.T1017T; 4:119031826-119031826	skin	malignant_melanoma	Substitution - coding silent
c.1942C>A; p.P648T; 4:119030717-119030717	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1024G>A; p.E342K; 4:119027393-119027393	skin	malignant_melanoma	Substitution - Missense
c.52G>A; p.G18R; 4:118889088-118889088	breast	carcinoma	Substitution - Missense
c.3125C>T; p.S1042L; 4:119031900-119031900	skin	malignant_melanoma	Substitution - Missense
c.2642C>T; p.S881L; 4:119031417-119031417	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2642C>T; p.S881L; 4:119031417-119031417	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2069G>A; p.R690K; 4:119030844-119030844	breast	carcinoma	Substitution - Missense
c.3051G>T; p.T1017T; 4:119031826-119031826	thyroid	other; neoplasm	Substitution - coding silent
c.1277A>G; p.E426G; 4:119030052-119030052	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2038A>C; p.R680R; 4:119030813-119030813	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.428C>A; p.A143D; 4:119026797-119026797	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2561T>C; p.V854A; 4:119031336-119031336	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.493C>T; p.Q165*; 4:119026862-119026862	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.3521A>G; p.E1174G; 4:119057669-119057669	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2484C>T; p.F828F; 4:119031259-119031259	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.592G>C; p.E198Q; 4:119026961-119026961	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2708_2715delCCACTCCA; p.P903fs*21; 4:119031483-119031490	pancreas	carcinoma; ductal_carcinoma	Deletion - Frameshift
c.2708_2715delCCACTCCA; p.P903fs*21; 4:119031483-119031490	pancreas	carcinoma	Deletion - Frameshift
c.2624T>A; p.L875H; 4:119031399-119031399	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.96A>C; p.Q32H; 4:118889132-118889132	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2428C>A; p.Q810K; 4:119031203-119031203	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3029C>T; p.P1010L; 4:119031804-119031804	skin	malignant_melanoma	Substitution - Missense
c.1372C>A; p.Q458K; 4:119030147-119030147	breast	carcinoma	Substitution - Missense
c.729G>A; p.S243S; 4:119027098-119027098	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.729G>A; p.S243S; 4:119027098-119027098	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.729G>A; p.S243S; 4:119027098-119027098	skin	malignant_melanoma	Substitution - coding silent
c.1525A>C; p.K509Q; 4:119030300-119030300	ovary	other; neoplasm	Substitution - Missense
c.1525A>C; p.K509Q; 4:119030300-119030300	ovary	other; neoplasm	Substitution - Missense
c.1328C>T; p.S443L; 4:119030103-119030103	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2935T>A; p.F979I; 4:119031710-119031710	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.3571A>G; p.M1191V; 4:119057719-119057719	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1029A>G; p.K343K; 4:119027398-119027398	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1528G>A; p.E510K; 4:119030303-119030303	skin	malignant_melanoma	Substitution - Missense
c.1342G>A; p.E448K; 4:119030117-119030117	breast	carcinoma	Substitution - Missense
c.1018C>T; p.R340C; 4:119027387-119027387	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1018C>T; p.R340C; 4:119027387-119027387	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3316T>A; p.W1106R; 4:119057464-119057464	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.109C>T; p.R37*; 4:119023433-119023433	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.109C>T; p.R37*; 4:119023433-119023433	thyroid	carcinoma	Substitution - Nonsense
c.2577G>A; p.V859V; 4:119031352-119031352	skin	malignant_melanoma	Substitution - coding silent
c.421C>T; p.P141S; 4:119026790-119026790	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.754C>T; p.P252S; 4:119027123-119027123	skin	malignant_melanoma	Substitution - Missense
c.1780G>A; p.G594R; 4:119030555-119030555	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2593C>T; p.L865F; 4:119031368-119031368	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2790G>A; p.S930S; 4:119031565-119031565	breast	carcinoma	Substitution - coding silent
c.3050C>T; p.T1017M; 4:119031825-119031825	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3669G>A; p.R1223R; 4:119057817-119057817	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.654C>T; p.L218L; 4:119027023-119027023	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.3461A>G; p.E1154G; 4:119057609-119057609	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3491C>G; p.A1164G; 4:119057639-119057639	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2789C>T; p.S930L; 4:119031564-119031564	skin	malignant_melanoma	Substitution - Missense
c.398T>C; p.L133P; 4:119026767-119026767	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.168C>T; p.I56I; 4:119023492-119023492	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.168C>T; p.I56I; 4:119023492-119023492	breast	carcinoma	Substitution - coding silent
c.1955C>T; p.P652L; 4:119030730-119030730	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1678G>A; p.G560S; 4:119030453-119030453	skin	malignant_melanoma	Substitution - Missense
c.1802C>G; p.T601S; 4:119030577-119030577	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1749C>T; p.V583V; 4:119030524-119030524	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1802C>G; p.T601S; 4:119030577-119030577	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.2654A>G; p.K885R; 4:119031429-119031429	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1891G>A; p.A631T; 4:119030666-119030666	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1764G>A; p.T588T; 4:119030539-119030539	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.838G>T; p.G280*; 4:119027207-119027207	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.532G>A; p.V178M; 4:119026901-119026901	breast	carcinoma	Substitution - Missense
c.3445C>T; p.P1149S; 4:119057593-119057593	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3445C>T; p.P1149S; 4:119057593-119057593	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3657T>C; p.Y1219Y; 4:119057805-119057805	skin	malignant_melanoma	Substitution - coding silent
c.2801C>T; p.P934L; 4:119031576-119031576	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1312C>A; p.L438I; 4:119030087-119030087	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.797G>A; p.R266K; 4:119027166-119027166	skin	malignant_melanoma	Substitution - Missense
c.1806C>T; p.P602P; 4:119030581-119030581	skin	malignant_melanoma	Substitution - coding silent
c.1382A>C; p.N461T; 4:119030157-119030157	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1770A>C; p.K590N; 4:119030545-119030545	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1273G>A; p.E425K; 4:119030048-119030048	skin	malignant_melanoma	Substitution - Missense
c.304delA; p.N103fs*40; 4:119026673-119026673	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.255A>T; p.K85N; 4:119023579-119023579	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1262C>T; p.A421V; 4:119030037-119030037	liver	carcinoma	Substitution - Missense
c.1262C>T; p.A421V; 4:119030037-119030037	liver	carcinoma	Substitution - Missense
c.1598C>T; p.T533M; 4:119030373-119030373	prostate	carcinoma	Substitution - Missense
c.923T>C; p.V308A; 4:119027292-119027292	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3702C>T; p.S1234S; 4:119057850-119057850	skin	malignant_melanoma	Substitution - coding silent
c.3702C>T; p.S1234S; 4:119057850-119057850	skin	malignant_melanoma	Substitution - coding silent
c.2701_2702delCA; p.Q901fs*25; 4:119031476-119031477	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Deletion - Frameshift
c.3627C>A; p.T1209T; 4:119057775-119057775	prostate	carcinoma	Substitution - coding silent
c.1498G>A; p.E500K; 4:119030273-119030273	skin	malignant_melanoma	Substitution - Missense
c.3257G>C; p.S1086T; 4:119057405-119057405	skin	malignant_melanoma	Substitution - Missense
c.2776A>T; p.N926Y; 4:119031551-119031551	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.3313C>G; p.P1105A; 4:119057461-119057461	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.974C>T; p.S325F; 4:119027343-119027343	skin	malignant_melanoma	Substitution - Missense
c.974C>T; p.S325F; 4:119027343-119027343	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2666A>G; p.D889G; 4:119031441-119031441	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2009G>A; p.R670Q; 4:119030784-119030784	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.167T>G; p.I56S; 4:119023491-119023491	thyroid	carcinoma	Substitution - Missense
c.3219G>T; p.K1073N; 4:119031994-119031994	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2264C>T; p.T755I; 4:119031039-119031039	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3112G>A; p.A1038T; 4:119031887-119031887	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1637C>T; p.T546M; 4:119030412-119030412	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2275G>C; p.V759L; 4:119031050-119031050	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3077C>T; p.S1026L; 4:119031852-119031852	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.442_444delAGT; p.S148delS; 4:119026811-119026813	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Deletion - In frame
c.1599G>A; p.T533T; 4:119030374-119030374	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.427G>C; p.A143P; 4:119026796-119026796	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.865G>A; p.D289N; 4:119027234-119027234	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3284G>A; p.R1095K; 4:119057432-119057432	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2557G>T; p.A853S; 4:119031332-119031332	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2344C>T; p.P782S; 4:119031119-119031119	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.836C>T; p.A279V; 4:119027205-119027205	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1628C>T; p.S543L; 4:119030403-119030403	skin	malignant_melanoma	Substitution - Missense
c.1628C>T; p.S543L; 4:119030403-119030403	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2777A>T; p.N926I; 4:119031552-119031552	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2956G>A; p.D986N; 4:119031731-119031731	skin	malignant_melanoma	Substitution - Missense
c.2350G>A; p.V784M; 4:119031125-119031125	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.154G>A; p.E52K; 4:119023478-119023478	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2189G>A; p.G730E; 4:119030964-119030964	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1833T>A; p.S611R; 4:119030608-119030608	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2262G>T; p.K754N; 4:119031037-119031037	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.984C>T; p.V328V; 4:119027353-119027353	skin; leg	malignant_melanoma	Substitution - coding silent
c.361C>T; p.R121*; 4:119026730-119026730	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3564G>T; p.K1188N; 4:119057712-119057712	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1812G>A; p.S604S; 4:119030587-119030587	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.361C>T; p.R121*; 4:119026730-119026730	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1812G>A; p.S604S; 4:119030587-119030587	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2128C>G; p.L710V; 4:119030903-119030903	skin	malignant_melanoma	Substitution - Missense
c.484C>T; p.P162S; 4:119026853-119026853	skin	malignant_melanoma	Substitution - Missense
c.2470G>A; p.V824M; 4:119031245-119031245	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1147C>G; p.L383V; 4:119029922-119029922	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1087A>C; p.S363R; 4:119029862-119029862	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1202G>A; p.R401H; 4:119029977-119029977	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1202G>A; p.R401H; 4:119029977-119029977	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2235C>A; p.F745L; 4:119031010-119031010	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.468G>T; p.L156F; 4:119026837-119026837	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1666G>A; p.E556K; 4:119030441-119030441	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1666G>A; p.E556K; 4:119030441-119030441	skin	malignant_melanoma	Substitution - Missense
c.1178G>A; p.G393E; 4:119029953-119029953	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1068A>G; p.A356A; 4:119027437-119027437	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1356C>T; p.D452D; 4:119030131-119030131	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3065C>T; p.S1022L; 4:119031840-119031840	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.399C>T; p.L133L; 4:119026768-119026768	skin	malignant_melanoma	Substitution - coding silent
c.1908T>C; p.V636V; 4:119030683-119030683	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1060C>T; p.R354W; 4:119027429-119027429	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1430G>C; p.R477T; 4:119030205-119030205	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2029C>G; p.P677A; 4:119030804-119030804	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2780C>T; p.P927L; 4:119031555-119031555	skin	malignant_melanoma	Substitution - Missense
c.851T>G; p.V284G; 4:119027220-119027220	breast	carcinoma	Substitution - Missense
c.2839C>T; p.P947S; 4:119031614-119031614	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3586A>C; p.R1196R; 4:119057734-119057734	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2388C>T; p.N796N; 4:119031163-119031163	skin	malignant_melanoma	Substitution - coding silent
c.2261A>T; p.K754M; 4:119031036-119031036	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.3550C>T; p.P1184S; 4:119057698-119057698	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3358G>A; p.D1120N; 4:119057506-119057506	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.110G>A; p.R37Q; 4:119023434-119023434	skin; upper_leg	malignant_melanoma	Substitution - Missense
c.3358G>A; p.D1120N; 4:119057506-119057506	skin	malignant_melanoma	Substitution - Missense
c.1090C>G; p.L364V; 4:119029865-119029865	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3550C>T; p.P1184S; 4:119057698-119057698	skin; mucosal	malignant_melanoma	Substitution - Missense
c.1721C>G; p.S574C; 4:119030496-119030496	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3670C>A; p.Q1224K; 4:119057818-119057818	liver	carcinoma	Substitution - Missense
c.1721C>G; p.S574C; 4:119030496-119030496	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2676G>A; p.T892T; 4:119031451-119031451	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1788G>T; p.V596V; 4:119030563-119030563	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1763C>T; p.T588M; 4:119030538-119030538	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1763C>T; p.T588M; 4:119030538-119030538	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2578G>T; p.G860*; 4:119031353-119031353	peritoneum; appendix	other; pseudomyxoma_peritonei	Substitution - Nonsense
c.429T>A; p.A143A; 4:119026798-119026798	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2812C>T; p.L938F; 4:119031587-119031587	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1246G>A; p.E416K; 4:119030021-119030021	skin; mucosal	malignant_melanoma	Substitution - Missense
c.1835C>T; p.P612L; 4:119030610-119030610	skin	malignant_melanoma	Substitution - Missense
c.1302A>G; p.E434E; 4:119030077-119030077	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.42G>T; p.G14G; 4:118889078-118889078	breast	carcinoma	Substitution - coding silent
c.680C>T; p.P227L; 4:119027049-119027049	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.400G>A; p.A134T; 4:119026769-119026769	soft_tissue; blood_vessel	angiosarcoma	Substitution - Missense
c.313G>A; p.E105K; 4:119026682-119026682	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2330C>T; p.S777F; 4:119031105-119031105	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3042C>T; p.A1014A; 4:119031817-119031817	skin	malignant_melanoma	Substitution - coding silent
c.1256G>A; p.R419Q; 4:119030031-119030031	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.788C>A; p.S263Y; 4:119027157-119027157	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.1846T>G; p.F616V; 4:119030621-119030621	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1988C>T; p.S663L; 4:119030763-119030763	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1988C>T; p.S663L; 4:119030763-119030763	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3023C>T; p.P1008L; 4:119031798-119031798	skin	malignant_melanoma	Substitution - Missense
c.3764G>T; p.R1255M; 4:119057912-119057912	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1988C>T; p.S663L; 4:119030763-119030763	breast	carcinoma	Substitution - Missense
c.650C>T; p.A217V; 4:119027019-119027019	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3351A>T; p.K1117N; 4:119057499-119057499	NS	malignant_melanoma	Substitution - Missense
c.1988C>T; p.S663L; 4:119030763-119030763	skin	malignant_melanoma	Substitution - Missense
c.3392C>T; p.P1131L; 4:119057540-119057540	skin	malignant_melanoma	Substitution - Missense
c.2168C>T; p.T723I; 4:119030943-119030943	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2182G>A; p.D728N; 4:119030957-119030957	skin	malignant_melanoma	Substitution - Missense
c.1288G>A; p.E430K; 4:119030063-119030063	skin	malignant_melanoma	Substitution - Missense
c.2940A>G; p.Q980Q; 4:119031715-119031715	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3342C>A; p.Y1114*; 4:119057490-119057490	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2402C>T; p.T801I; 4:119031177-119031177	skin	malignant_melanoma	Substitution - Missense
c.3705G>T; p.M1235I; 4:119057853-119057853	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1983C>T; p.Y661Y; 4:119030758-119030758	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1983C>T; p.Y661Y; 4:119030758-119030758	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3624C>A; p.S1208S; 4:119057772-119057772	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1151C>T; p.T384M; 4:119029926-119029926	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1070-3T>C; p.?; 4:119029842-119029842	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.2967C>T; p.P989P; 4:119031742-119031742	skin	malignant_melanoma	Substitution - coding silent
c.143G>T; p.C48F; 4:119023467-119023467	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1211C>T; p.A404V; 4:119029986-119029986	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1618G>C; p.E540Q; 4:119030393-119030393	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3680G>T; p.R1227I; 4:119057828-119057828	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3148C>T; p.P1050S; 4:119031923-119031923	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1273G>T; p.E425*; 4:119030048-119030048	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2626T>C; p.F876L; 4:119031401-119031401	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2730T>A; p.S910R; 4:119031505-119031505	breast	carcinoma	Substitution - Missense
c.196T>A; p.Y66N; 4:119023520-119023520	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3494G>A; p.R1165Q; 4:119057642-119057642	liver	carcinoma	Substitution - Missense
c.2488G>A; p.G830R; 4:119031263-119031263	skin	malignant_melanoma	Substitution - Missense
c.461G>C; p.G154A; 4:119026830-119026830	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1198C>T; p.R400*; 4:119029973-119029973	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3596A>G; p.Y1199C; 4:119057744-119057744	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2640G>A; p.Q880Q; 4:119031415-119031415	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1375G>T; p.V459F; 4:119030150-119030150	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3222C>A; p.F1074L; 4:119031997-119031997	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3142C>A; p.P1048T; 4:119031917-119031917	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1376T>A; p.V459D; 4:119030151-119030151	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.216C>T; p.L72L; 4:119023540-119023540	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.82A>T; p.K28*; 4:118889118-118889118	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3771G>A; p.W1257*; 4:119057919-119057919	skin	malignant_melanoma	Substitution - Nonsense
c.2103G>T; p.E701D; 4:119030878-119030878	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.147G>T; p.E49D; 4:119023471-119023471	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.312C>T; p.L104L; 4:119026681-119026681	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1089C>T; p.S363S; 4:119029864-119029864	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3115G>A; p.E1039K; 4:119031890-119031890	skin; ear	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2689G>A; p.A897T; 4:119031464-119031464	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1359T>C; p.V453V; 4:119030134-119030134	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3108C>A; p.F1036L; 4:119031883-119031883	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2228G>T; p.C743F; 4:119031003-119031003	liver	carcinoma	Substitution - Missense
c.3407C>T; p.A1136V; 4:119057555-119057555	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.848G>A; p.R283Q; 4:119027217-119027217	prostate	carcinoma	Substitution - Missense
c.526G>A; p.G176R; 4:119026895-119026895	skin	malignant_melanoma	Substitution - Missense
c.2707C>T; p.P903S; 4:119031482-119031482	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3167C>T; p.S1056L; 4:119031942-119031942	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1071G>T; p.R357R; 4:119029846-119029846	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.329G>T; p.G110V; 4:119026698-119026698	thyroid	other; neoplasm	Substitution - Missense
c.2469C>T; p.N823N; 4:119031244-119031244	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.489C>T; p.S163S; 4:119026858-119026858	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2793G>A; p.P931P; 4:119031568-119031568	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3323A>G; p.Y1108C; 4:119057471-119057471	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1604C>T; p.S535F; 4:119030379-119030379	skin	malignant_melanoma	Substitution - Missense
c.1904G>A; p.G635E; 4:119030679-119030679	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2807C>A; p.A936D; 4:119031582-119031582	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1166C>T; p.P389L; 4:119029941-119029941	skin	malignant_melanoma	Substitution - Missense
c.1079G>A; p.R360K; 4:119029854-119029854	skin	malignant_melanoma	Substitution - Missense
c.3716C>G; p.S1239C; 4:119057864-119057864	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1904G>A; p.G635E; 4:119030679-119030679	skin; mucosal	malignant_melanoma	Substitution - Missense
c.3140C>T; p.S1047F; 4:119031915-119031915	skin	malignant_melanoma	Substitution - Missense
c.415G>A; p.E139K; 4:119026784-119026784	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1621G>A; p.E541K; 4:119030396-119030396	skin	malignant_melanoma	Substitution - Missense
c.2572G>A; p.A858T; 4:119031347-119031347	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3360T>C; p.D1120D; 4:119057508-119057508	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1555A>T; p.S519C; 4:119030330-119030330	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1890C>G; p.D630E; 4:119030665-119030665	skin	malignant_melanoma	Substitution - Missense
c.531C>T; p.R177R; 4:119026900-119026900	large_intestine; colon	adenoma	Substitution - coding silent
c.531C>T; p.R177R; 4:119026900-119026900	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2918A>G; p.N973S; 4:119031693-119031693	ovary	other; neoplasm	Substitution - Missense
c.2045G>T; p.G682V; 4:119030820-119030820	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2710A>T; p.T904S; 4:119031485-119031485	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1755G>A; p.M585I; 4:119030530-119030530	skin	malignant_melanoma	Substitution - Missense
c.1755G>A; p.M585I; 4:119030530-119030530	skin	malignant_melanoma	Substitution - Missense
c.3066G>A; p.S1022S; 4:119031841-119031841	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3066G>A; p.S1022S; 4:119031841-119031841	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.729G>T; p.S243S; 4:119027098-119027098	liver	carcinoma	Substitution - coding silent
c.729G>T; p.S243S; 4:119027098-119027098	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2938C>T; p.Q980*; 4:119031713-119031713	skin	malignant_melanoma	Substitution - Nonsense
c.11G>A; p.G4E; 4:118889047-118889047	skin	malignant_melanoma	Substitution - Missense
c.720C>T; p.H240H; 4:119027089-119027089	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.11G>A; p.G4E; 4:118889047-118889047	skin	malignant_melanoma	Substitution - Missense
c.1915C>T; p.P639S; 4:119030690-119030690	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.11G>A; p.G4E; 4:118889047-118889047	skin	malignant_melanoma	Substitution - Missense
c.915G>C; p.K305N; 4:119027284-119027284	breast	carcinoma	Substitution - Missense
c.1915C>T; p.P639S; 4:119030690-119030690	skin	malignant_melanoma	Substitution - Missense
c.2122_2123CC>AA; p.P708>?; 4:119030897-119030898	lung	carcinoma; adenocarcinoma	Complex
c.2863G>A; p.G955R; 4:119031638-119031638	skin	malignant_melanoma	Substitution - Missense
c.2597C>A; p.P866Q; 4:119031372-119031372	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.594G>A; p.E198E; 4:119026963-119026963	stomach	carcinoma; adenocarcinoma	Substitution - coding silent

Mutation summary in protein domains

Top

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

Top

Loss of Function mutations compare to missense mutations

Top

The copy number variations for various cancers

Top

COSMIC somatic mutation [Top]