Entrez Gene

Basic Information
Gene ID	5101
Name	PCDH9
Synonymous	protocadherin 9;PCDH9;protocadherin 9
Definition	cadherin superfamily protein VR4-11\|protocadherin-9
Position	13q21.32
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.2493C>T; p.F831F; 13:67225948-67225948	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2493C>T; p.F831F; 13:67225948-67225948	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2611A>G; p.R871G; 13:67225830-67225830	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2493C>T; p.F831F; 13:67225948-67225948	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2571G>T; p.M857I; 13:67225870-67225870	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2171G>A; p.G724D; 13:67226270-67226270	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2279A>G; p.Y760C; 13:67226162-67226162	pancreas	carcinoma	Substitution - Missense
c.3633G>A; p.M1211I; 13:66304736-66304736	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2034A>G; p.P678P; 13:67226407-67226407	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3039T>C; p.C1013C; 13:66903603-66903603	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.971C>T; p.A324V; 13:67227470-67227470	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3302A>G; p.K1101R; 13:66631248-66631248	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2326G>A; p.D776N; 13:67226115-67226115	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2326G>A; p.D776N; 13:67226115-67226115	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1963C>A; p.R655S; 13:67226478-67226478	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2731G>C; p.E911Q; 13:67225710-67225710	breast	carcinoma	Substitution - Missense
c.490C>T; p.P164S; 13:67227951-67227951	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.254T>G; p.I85S; 13:67228187-67228187	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3481T>G; p.F1161V; 13:66304888-66304888	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3141G>A; p.S1047S; 13:66631409-66631409	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3141G>A; p.S1047S; 13:66631409-66631409	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2147C>T; p.T716I; 13:67226294-67226294	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1442A>G; p.N481S; 13:67226999-67226999	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2838T>A; p.P946P; 13:67225603-67225603	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.149C>A; p.S50Y; 13:67228292-67228292	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1161A>C; p.T387T; 13:67227280-67227280	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3123A>C; p.E1041D; 13:66903519-66903519	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3123A>C; p.E1041D; 13:66903519-66903519	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3490C>T; p.Q1164*; 13:66304879-66304879	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1295C>A; p.T432N; 13:67227146-67227146	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2661C>T; p.I887I; 13:67225780-67225780	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3149G>A; p.R1050H; 13:66631401-66631401	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3433C>T; p.P1145S; 13:66304936-66304936	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2857G>A; p.D953N; 13:67225584-67225584	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2562C>A; p.A854A; 13:67225879-67225879	skin	malignant_melanoma	Substitution - coding silent
c.1207A>G; p.I403V; 13:67227234-67227234	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.905T>A; p.L302H; 13:67227536-67227536	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2568G>C; p.W856C; 13:67225873-67225873	kidney	carcinoma; renal_cell_carcinoma	Substitution - Missense
c.1546G>A; p.D516N; 13:67226895-67226895	thyroid	carcinoma	Substitution - Missense
c.431C>T; p.S144F; 13:67228010-67228010	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3155C>T; p.T1052M; 13:66631395-66631395	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3522G>T; p.V1174V; 13:66304847-66304847	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1483G>A; p.D495N; 13:67226958-67226958	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2185G>A; p.D729N; 13:67226256-67226256	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3114G>A; p.Q1038Q; 13:66903528-66903528	oesophagus	carcinoma	Substitution - coding silent
c.3522G>A; p.V1174V; 13:66304847-66304847	skin	malignant_melanoma	Substitution - coding silent
c.1993G>T; p.V665F; 13:67226448-67226448	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.576C>T; p.I192I; 13:67227865-67227865	skin	malignant_melanoma	Substitution - coding silent
c.3385T>A; p.C1129S; 13:66304984-66304984	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3679G>T; p.G1227C; 13:66304690-66304690	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.885C>T; p.V295V; 13:67227556-67227556	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3163C>T; p.L1055F; 13:66631387-66631387	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2866G>T; p.V956F; 13:67225575-67225575	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2866G>T; p.V956F; 13:67225575-67225575	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1183G>T; p.V395L; 13:67227258-67227258	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1502A>G; p.N501S; 13:67226939-67226939	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3199G>A; p.G1067S; 13:66631351-66631351	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.158A>G; p.N53S; 13:67228283-67228283	urinary_tract; bladder	carcinoma	Substitution - Missense
c.862C>T; p.R288W; 13:67227579-67227579	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3139-2A>G; p.?; 13:66631413-66631413	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.3675A>G; p.A1225A; 13:66304694-66304694	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.285A>G; p.E95E; 13:67228156-67228156	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3675A>G; p.A1225A; 13:66304694-66304694	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.2049C>A; p.S683S; 13:67226392-67226392	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3675A>G; p.A1225A; 13:66304694-66304694	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - coding silent
c.1638C>T; p.D546D; 13:67226803-67226803	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1638C>T; p.D546D; 13:67226803-67226803	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2927G>T; p.G976V; 13:67225514-67225514	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1418T>G; p.V473G; 13:67227023-67227023	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1788G>A; p.V596V; 13:67226653-67226653	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1653C>T; p.P551P; 13:67226788-67226788	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.650C>A; p.T217N; 13:67227791-67227791	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.650C>A; p.T217N; 13:67227791-67227791	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2373T>G; p.T791T; 13:67226068-67226068	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - coding silent
c.339_340insT; p.E114fs*1; 13:67228101-67228102	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.3511G>A; p.D1171N; 13:66304858-66304858	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3511G>A; p.D1171N; 13:66304858-66304858	skin	malignant_melanoma	Substitution - Missense
c.1448G>A; p.R483Q; 13:67226993-67226993	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2269G>T; p.D757Y; 13:67226172-67226172	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2715C>A; p.S905R; 13:67225726-67225726	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3672A>C; p.Q1224H; 13:66304697-66304697	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3140C>T; p.S1047L; 13:66631410-66631410	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3429G>T; p.W1143C; 13:66304940-66304940	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1830C>T; p.S610S; 13:67226611-67226611	skin; upper_leg	malignant_melanoma	Substitution - coding silent
c.3510G>A; p.K1170K; 13:66304859-66304859	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2464G>T; p.G822C; 13:67225977-67225977	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.534T>G; p.H178Q; 13:67227907-67227907	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1929T>C; p.F643F; 13:67226512-67226512	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1107C>T; p.G369G; 13:67227334-67227334	pancreas	carcinoma	Substitution - coding silent
c.625A>G; p.N209D; 13:67227816-67227816	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2389G>A; p.D797N; 13:67226052-67226052	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3549G>A; p.W1183*; 13:66304820-66304820	skin	malignant_melanoma	Substitution - Nonsense
c.2644T>C; p.L882L; 13:67225797-67225797	pancreas	carcinoma	Substitution - coding silent
c.3341-3C>A; p.?; 13:66305031-66305031	pancreas	carcinoma	Unknown
c.2644T>C; p.L882L; 13:67225797-67225797	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.954A>C; p.L318F; 13:67227487-67227487	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1736T>A; p.F579Y; 13:67226705-67226705	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2788C>T; p.P930S; 13:67225653-67225653	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.103C>G; p.P35A; 13:67228338-67228338	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2065delC; p.L689fs*9; 13:67226376-67226376	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3368C>T; p.A1123V; 13:66305001-66305001	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3368C>T; p.A1123V; 13:66305001-66305001	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3368C>T; p.A1123V; 13:66305001-66305001	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3230G>A; p.G1077E; 13:66631320-66631320	skin	malignant_melanoma	Substitution - Missense
c.3273C>T; p.D1091D; 13:66631277-66631277	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.3714A>G; p.1238; 13:66304655-66304655	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.3353G>T; p.G1118V; 13:66305016-66305016	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma	Substitution - Missense
c.3714A>G; p.1238; 13:66304655-66304655	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.3353G>T; p.G1118V; 13:66305016-66305016	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.3714A>G; p.1238; 13:66304655-66304655	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3279C>A; p.F1093L; 13:66631271-66631271	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2509C>T; p.R837C; 13:67225932-67225932	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3218C>T; p.P1073L; 13:66631332-66631332	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1795G>A; p.A599T; 13:67226646-67226646	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.765T>C; p.G255G; 13:67227676-67227676	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1136T>C; p.V379A; 13:67227305-67227305	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1439A>G; p.E480G; 13:67227002-67227002	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.3667A>G; p.K1223E; 13:66304702-66304702	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3218C>T; p.P1073L; 13:66631332-66631332	skin; mucosal	malignant_melanoma	Substitution - Missense
c.3293C>T; p.S1098F; 13:66631257-66631257	breast	carcinoma	Substitution - Missense
c.1740delT; p.F580fs*14; 13:67226701-67226701	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.163G>A; p.A55T; 13:67228278-67228278	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.798C>T; p.P266P; 13:67227643-67227643	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.538G>A; p.E180K; 13:67227903-67227903	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.238A>C; p.S80R; 13:67228203-67228203	kidney	other; neoplasm	Substitution - Missense
c.1740delT; p.F580fs*14; 13:67226701-67226701	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1588T>A; p.F530I; 13:67226853-67226853	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3166C>A; p.P1056T; 13:66631384-66631384	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.902G>C; p.R301T; 13:67227539-67227539	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2352C>T; p.I784I; 13:67226089-67226089	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.131C>A; p.P44Q; 13:67228310-67228310	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2464G>A; p.G822S; 13:67225977-67225977	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2910C>T; p.D970D; 13:67225531-67225531	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2119A>C; p.T707P; 13:67226322-67226322	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.540A>G; p.E180E; 13:67227901-67227901	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3297G>A; p.P1099P; 13:66631253-66631253	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.78T>A; p.L26L; 13:67228363-67228363	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.583A>C; p.T195P; 13:67227858-67227858	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3242C>T; p.S1081L; 13:66631308-66631308	NS	malignant_melanoma	Substitution - Missense
c.3242C>T; p.S1081L; 13:66631308-66631308	NS	malignant_melanoma	Substitution - Missense
c.3297G>A; p.P1099P; 13:66631253-66631253	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2066T>A; p.L689H; 13:67226375-67226375	urinary_tract; bladder	carcinoma	Substitution - Missense
c.151C>A; p.H51N; 13:67228290-67228290	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.3479C>T; p.T1160I; 13:66304890-66304890	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3577A>T; p.N1193Y; 13:66304792-66304792	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3660G>A; p.K1220K; 13:66304709-66304709	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1252C>A; p.Q418K; 13:67227189-67227189	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.3324C>A; p.N1108K; 13:66631226-66631226	breast	carcinoma	Substitution - Missense
c.2236G>A; p.V746M; 13:67226205-67226205	breast	carcinoma	Substitution - Missense
c.3355C>T; p.P1119S; 13:66305014-66305014	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3672A>T; p.Q1224H; 13:66304697-66304697	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1057G>A; p.D353N; 13:67227384-67227384	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1057G>A; p.D353N; 13:67227384-67227384	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.86C>G; p.T29S; 13:67228355-67228355	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2500G>A; p.V834I; 13:67225941-67225941	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1057G>A; p.D353N; 13:67227384-67227384	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3002G>A; p.G1001D; 13:67225439-67225439	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2765C>T; p.P922L; 13:67225676-67225676	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2500G>A; p.V834I; 13:67225941-67225941	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1979A>C; p.K660T; 13:67226462-67226462	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.30T>C; p.A10A; 13:67228411-67228411	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3657G>A; p.L1219L; 13:66304712-66304712	skin	malignant_melanoma	Substitution - coding silent
c.1668G>T; p.A556A; 13:67226773-67226773	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1171A>T; p.K391*; 13:67227270-67227270	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.494C>T; p.S165L; 13:67227947-67227947	oesophagus	carcinoma	Substitution - Missense
c.3714A>T; p.*1238Y; 13:66304655-66304655	oesophagus	carcinoma; adenocarcinoma	Nonstop extension
c.3009G>A; p.K1003K; 13:67225432-67225432	liver	carcinoma	Substitution - coding silent
c.794C>T; p.A265V; 13:67227647-67227647	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.794C>T; p.A265V; 13:67227647-67227647	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3009G>A; p.K1003K; 13:67225432-67225432	liver	carcinoma	Substitution - coding silent
c.3009G>A; p.K1003K; 13:67225432-67225432	liver	carcinoma	Substitution - coding silent
c.3111T>G; p.I1037M; 13:66903531-66903531	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1682C>T; p.T561I; 13:67226759-67226759	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.2032C>T; p.P678S; 13:67226409-67226409	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3559A>T; p.S1187C; 13:66304810-66304810	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2872G>A; p.V958M; 13:67225569-67225569	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.3151G>T; p.V1051F; 13:66631399-66631399	breast	carcinoma	Substitution - Missense
c.3181G>A; p.E1061K; 13:66631369-66631369	skin	malignant_melanoma	Substitution - Missense
c.3181G>A; p.E1061K; 13:66631369-66631369	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3271G>T; p.D1091Y; 13:66631279-66631279	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.452T>A; p.I151N; 13:67227989-67227989	skin	malignant_melanoma	Substitution - Missense
c.3271G>T; p.D1091Y; 13:66631279-66631279	large_intestine; colon	carcinoma	Substitution - Missense
c.526G>T; p.V176L; 13:67227915-67227915	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3694C>A; p.P1232T; 13:66304675-66304675	skin	malignant_melanoma	Substitution - Missense
c.1205T>G; p.F402C; 13:67227236-67227236	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.429A>G; p.P143P; 13:67228012-67228012	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.77T>G; p.L26R; 13:67228364-67228364	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2937C>A; p.T979T; 13:67225504-67225504	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2586G>T; p.E862D; 13:67225855-67225855	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.77T>G; p.L26R; 13:67228364-67228364	pancreas	carcinoma	Substitution - Missense
c.2936C>T; p.T979I; 13:67225505-67225505	skin; trunk	malignant_melanoma	Substitution - Missense
c.569T>A; p.L190Q; 13:67227872-67227872	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3077C>A; p.P1026H; 13:66903565-66903565	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.385A>C; p.K129Q; 13:67228056-67228056	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.764G>A; p.G255D; 13:67227677-67227677	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Substitution - Missense
c.1266G>T; p.E422D; 13:67227175-67227175	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3409G>T; p.G1137C; 13:66304960-66304960	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1392C>A; p.D464E; 13:67227049-67227049	pancreas	carcinoma	Substitution - Missense
c.170G>A; p.G57E; 13:67228271-67228271	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3496G>T; p.E1166*; 13:66304873-66304873	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.170G>A; p.G57E; 13:67228271-67228271	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.802G>C; p.G268R; 13:67227639-67227639	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1099A>T; p.I367F; 13:67227342-67227342	stomach	adenocarcinoma	Substitution - Missense
c.2369G>T; p.R790M; 13:67226072-67226072	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2910C>A; p.D970E; 13:67225531-67225531	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.283G>T; p.E95*; 13:67228158-67228158	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3305G>T; p.R1102M; 13:66631245-66631245	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2299C>A; p.L767I; 13:67226142-67226142	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3309T>G; p.T1103T; 13:66631241-66631241	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1062C>T; p.N354N; 13:67227379-67227379	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1063C>T; p.P355S; 13:67227378-67227378	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.121G>A; p.G41R; 13:67228320-67228320	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3069T>C; p.P1023P; 13:66903573-66903573	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1274C>A; p.S425Y; 13:67227167-67227167	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.180C>T; p.A60A; 13:67228261-67228261	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3318T>C; p.D1106D; 13:66631232-66631232	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.3235C>T; p.L1079L; 13:66631315-66631315	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3235C>T; p.L1079L; 13:66631315-66631315	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.3523A>T; p.N1175Y; 13:66304846-66304846	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1577C>G; p.A526G; 13:67226864-67226864	skin; extremity	malignant_melanoma	Substitution - Missense
c.2692G>A; p.E898K; 13:67225749-67225749	urinary_tract; bladder	carcinoma	Substitution - Missense
c.525T>G; p.G175G; 13:67227916-67227916	breast	carcinoma	Substitution - coding silent
c.2797C>G; p.P933A; 13:67225644-67225644	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.933G>T; p.L311L; 13:67227508-67227508	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3128G>T; p.S1043I; 13:66903514-66903514	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.2209C>T; p.L737L; 13:67226232-67226232	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.894A>G; p.A298A; 13:67227547-67227547	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3142_3143CA>AG; p.Q1048R; 13:66631407-66631408	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.255T>A; p.I85I; 13:67228186-67228186	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2729T>A; p.L910Q; 13:67225712-67225712	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.676G>A; p.D226N; 13:67227765-67227765	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.930G>A; p.G310G; 13:67227511-67227511	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2222C>T; p.P741L; 13:67226219-67226219	skin	malignant_melanoma	Substitution - Missense
c.2793C>A; p.N931K; 13:67225648-67225648	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1295C>T; p.T432I; 13:67227146-67227146	skin	malignant_melanoma	Substitution - Missense
c.2803C>A; p.L935M; 13:67225638-67225638	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1078C>A; p.L360I; 13:67227363-67227363	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2144A>T; p.Y715F; 13:67226297-67226297	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1964G>C; p.R655P; 13:67226477-67226477	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2363T>G; p.I788S; 13:67226078-67226078	oesophagus	carcinoma	Substitution - Missense
c.550G>T; p.G184W; 13:67227891-67227891	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3362G>A; p.G1121E; 13:66305007-66305007	skin	malignant_melanoma	Substitution - Missense
c.3139-2A>T; p.?; 13:66631413-66631413	lung; middle_lobe	carcinoma; adenocarcinoma	Unknown
c.2415A>G; p.Q805Q; 13:67226026-67226026	central_nervous_system; brain	glioma	Substitution - coding silent
c.1485T>A; p.D495E; 13:67226956-67226956	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.792T>A; p.N264K; 13:67227649-67227649	kidney	carcinoma; renal_cell_carcinoma	Substitution - Missense
c.3283G>T; p.D1095Y; 13:66631267-66631267	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1667C>A; p.A556E; 13:67226774-67226774	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1864C>T; p.P622S; 13:67226577-67226577	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1413G>T; p.Q471H; 13:67227028-67227028	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2474T>A; p.V825E; 13:67225967-67225967	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2474T>A; p.V825E; 13:67225967-67225967	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3098C>T; p.T1033M; 13:66903544-66903544	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3690G>T; p.E1230D; 13:66304679-66304679	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.415G>T; p.A139S; 13:67228026-67228026	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.197T>G; p.L66R; 13:67228244-67228244	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2248C>T; p.R750C; 13:67226193-67226193	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1500A>C; p.K500N; 13:67226941-67226941	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.415G>T; p.A139S; 13:67228026-67228026	pancreas	carcinoma	Substitution - Missense
c.762G>T; p.E254D; 13:67227679-67227679	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.865T>C; p.Y289H; 13:67227576-67227576	pancreas	carcinoma	Substitution - Missense
c.2141A>G; p.K714R; 13:67226300-67226300	ovary	other; neoplasm	Substitution - Missense
c.1350T>A; p.N450K; 13:67227091-67227091	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.3590A>T; p.Q1197L; 13:66304779-66304779	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1841A>G; p.D614G; 13:67226600-67226600	liver	carcinoma	Substitution - Missense
c.3590A>T; p.Q1197L; 13:66304779-66304779	haematopoietic_and_lymphoid_tissue; soft_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.3009G>T; p.K1003N; 13:67225432-67225432	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.906C>A; p.L302L; 13:67227535-67227535	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2455A>G; p.I819V; 13:67225986-67225986	skin	malignant_melanoma	Substitution - Missense
c.3251T>C; p.L1084P; 13:66631299-66631299	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.768A>G; p.Q256Q; 13:67227673-67227673	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.768A>G; p.Q256Q; 13:67227673-67227673	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.768A>G; p.Q256Q; 13:67227673-67227673	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.768A>G; p.Q256Q; 13:67227673-67227673	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3037-1G>A; p.?; 13:66903606-66903606	stomach	carcinoma; adenocarcinoma	Unknown
c.1146G>A; p.K382K; 13:67227295-67227295	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2298G>A; p.T766T; 13:67226143-67226143	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.373C>T; p.L125L; 13:67228068-67228068	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1997T>C; p.M666T; 13:67226444-67226444	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2178C>T; p.F726F; 13:67226263-67226263	skin	malignant_melanoma	Substitution - coding silent
c.2048C>A; p.S683Y; 13:67226393-67226393	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1970C>G; p.S657C; 13:67226471-67226471	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2639C>T; p.S880F; 13:67225802-67225802	skin	malignant_melanoma	Substitution - Missense
c.3214G>A; p.E1072K; 13:66631336-66631336	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3674C>A; p.A1225E; 13:66304695-66304695	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3521T>A; p.V1174E; 13:66304848-66304848	pancreas	carcinoma	Substitution - Missense
c.1738T>G; p.F580V; 13:67226703-67226703	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2147C>A; p.T716N; 13:67226294-67226294	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3221T>A; p.V1074E; 13:66631329-66631329	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.3685A>G; p.T1229A; 13:66304684-66304684	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3444G>T; p.L1148F; 13:66304925-66304925	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.780T>C; p.H260H; 13:67227661-67227661	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2966A>C; p.D989A; 13:67225475-67225475	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1984A>C; p.T662P; 13:67226457-67226457	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1975G>A; p.A659T; 13:67226466-67226466	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3413A>C; p.H1138P; 13:66304956-66304956	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.821T>C; p.L274P; 13:67227620-67227620	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2683G>A; p.A895T; 13:67225758-67225758	eye; uveal_tract	malignant_melanoma; spindle	Substitution - Missense
c.1975G>A; p.A659T; 13:67226466-67226466	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2733G>A; p.E911E; 13:67225708-67225708	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.291C>G; p.L97L; 13:67228150-67228150	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2536G>A; p.A846T; 13:67225905-67225905	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2220A>G; p.K740K; 13:67226221-67226221	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2490C>G; p.I830M; 13:67225951-67225951	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1153C>T; p.L385L; 13:67227288-67227288	liver	carcinoma	Substitution - coding silent
c.1153C>T; p.L385L; 13:67227288-67227288	liver	carcinoma	Substitution - coding silent
c.1630G>T; p.A544S; 13:67226811-67226811	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.789G>T; p.E263D; 13:67227652-67227652	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.863G>T; p.R288L; 13:67227578-67227578	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.777_778GC>CA; p.H260N; 13:67227663-67227664	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2127G>A; p.M709I; 13:67226314-67226314	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.73G>T; p.E25*; 13:67228368-67228368	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.73G>T; p.E25*; 13:67228368-67228368	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.693G>T; p.Q231H; 13:67227748-67227748	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.693G>T; p.Q231H; 13:67227748-67227748	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.73G>T; p.E25*; 13:67228368-67228368	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1600G>A; p.E534K; 13:67226841-67226841	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2340T>G; p.N780K; 13:67226101-67226101	skin	malignant_melanoma	Substitution - Missense
c.1600G>A; p.E534K; 13:67226841-67226841	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2356G>T; p.D786Y; 13:67226085-67226085	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3145C>T; p.R1049C; 13:66631405-66631405	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3145C>T; p.R1049C; 13:66631405-66631405	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3145C>T; p.R1049C; 13:66631405-66631405	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2592G>T; p.K864N; 13:67225849-67225849	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1555C>T; p.R519*; 13:67226886-67226886	breast	carcinoma	Substitution - Nonsense
c.1082G>A; p.R361K; 13:67227359-67227359	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.927T>A; p.T309T; 13:67227514-67227514	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1238C>T; p.A413V; 13:67227203-67227203	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.255T>G; p.I85M; 13:67228186-67228186	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1238C>T; p.A413V; 13:67227203-67227203	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1239G>T; p.A413A; 13:67227202-67227202	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3271G>A; p.D1091N; 13:66631279-66631279	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1523T>C; p.L508P; 13:67226918-67226918	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3205G>T; p.G1069*; 13:66631345-66631345	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2733G>T; p.E911D; 13:67225708-67225708	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3015G>A; p.K1005K; 13:67225426-67225426	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2324A>G; p.N775S; 13:67226117-67226117	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2932G>A; p.D978N; 13:67225509-67225509	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1390G>T; p.D464Y; 13:67227051-67227051	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2828C>T; p.S943F; 13:67225613-67225613	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2087T>C; p.V696A; 13:67226354-67226354	liver	carcinoma	Substitution - Missense
c.960A>G; p.R320R; 13:67227481-67227481	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1761G>C; p.K587N; 13:67226680-67226680	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.384A>G; p.I128M; 13:67228057-67228057	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3219G>A; p.P1073P; 13:66631331-66631331	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.38T>C; p.I13T; 13:67228403-67228403	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2367C>T; p.R789R; 13:67226074-67226074	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.652T>C; p.Y218H; 13:67227789-67227789	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.477C>T; p.S159S; 13:67227964-67227964	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1809G>T; p.E603D; 13:67226632-67226632	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.126C>T; p.N42N; 13:67228315-67228315	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1343G>A; p.S448N; 13:67227098-67227098	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.14A>G; p.D5G; 13:67228427-67228427	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.990G>T; p.V330V; 13:67227451-67227451	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.802G>A; p.G268S; 13:67227639-67227639	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.446T>A; p.I149N; 13:67227995-67227995	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1950A>G; p.G650G; 13:67226491-67226491	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.61G>A; p.A21T; 13:67228380-67228380	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.61G>A; p.A21T; 13:67228380-67228380	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.61G>A; p.A21T; 13:67228380-67228380	breast	carcinoma	Substitution - Missense
c.3240C>A; p.I1080I; 13:66631310-66631310	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.908_909delTT; p.F303fs*4; 13:67227532-67227533	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.798C>G; p.P266P; 13:67227643-67227643	skin	malignant_melanoma	Substitution - coding silent
c.1178C>T; p.T393I; 13:67227263-67227263	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3254C>T; p.P1085L; 13:66631296-66631296	skin	malignant_melanoma	Substitution - Missense
c.2811G>T; p.K937N; 13:67225630-67225630	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3254C>T; p.P1085L; 13:66631296-66631296	skin	malignant_melanoma	Substitution - Missense
c.3145C>G; p.R1049G; 13:66631405-66631405	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2907G>A; p.L969L; 13:67225534-67225534	liver	carcinoma	Substitution - coding silent
c.232G>C; p.V78L; 13:67228209-67228209	prostate	carcinoma	Substitution - Missense
c.3712T>C; p.*1238Q; 13:66304657-66304657	large_intestine; colon	carcinoma; adenocarcinoma	Nonstop extension
c.2907G>A; p.L969L; 13:67225534-67225534	liver	carcinoma	Substitution - coding silent
c.3526G>A; p.G1176R; 13:66304843-66304843	skin	malignant_melanoma	Substitution - Missense
c.3246C>T; p.H1082H; 13:66631304-66631304	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3246C>T; p.H1082H; 13:66631304-66631304	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1228C>T; p.H410Y; 13:67227213-67227213	skin	malignant_melanoma	Substitution - Missense
c.2879delA; p.K960fs*4; 13:67225562-67225562	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2434T>C; p.Y812H; 13:67226007-67226007	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3450A>T; p.P1150P; 13:66304919-66304919	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1512T>A; p.I504I; 13:67226929-67226929	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.1335G>A; p.G445G; 13:67227106-67227106	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1454G>A; p.G485E; 13:67226987-67226987	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2896G>A; p.E966K; 13:67225545-67225545	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1597G>T; p.E533*; 13:67226844-67226844	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.746G>T; p.R249M; 13:67227695-67227695	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1335G>A; p.G445G; 13:67227106-67227106	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3294T>C; p.S1098S; 13:66631256-66631256	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2921T>C; p.V974A; 13:67225520-67225520	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3041A>G; p.N1014S; 13:66903601-66903601	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3662C>A; p.S1221Y; 13:66304707-66304707	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3662C>A; p.S1221Y; 13:66304707-66304707	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3041A>G; p.N1014S; 13:66903601-66903601	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3041A>G; p.N1014S; 13:66903601-66903601	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3041A>G; p.N1014S; 13:66903601-66903601	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3526G>T; p.G1176W; 13:66304843-66304843	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1609C>T; p.R537*; 13:67226832-67226832	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3099G>A; p.T1033T; 13:66903543-66903543	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1609C>T; p.R537*; 13:67226832-67226832	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3672A>G; p.Q1224Q; 13:66304697-66304697	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3454C>A; p.Q1152K; 13:66304915-66304915	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1129G>T; p.D377Y; 13:67227312-67227312	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1644G>A; p.G548G; 13:67226797-67226797	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.717G>T; p.Q239H; 13:67227724-67227724	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1809G>A; p.E603E; 13:67226632-67226632	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1378G>C; p.E460Q; 13:67227063-67227063	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1378G>C; p.E460Q; 13:67227063-67227063	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.422T>C; p.M141T; 13:67228019-67228019	pancreas	carcinoma	Substitution - Missense
c.2746G>T; p.G916*; 13:67225695-67225695	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2562C>T; p.A854A; 13:67225879-67225879	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.863G>A; p.R288Q; 13:67227578-67227578	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.730G>T; p.D244Y; 13:67227711-67227711	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.40G>A; p.A14T; 13:67228401-67228401	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2286G>A; p.K762K; 13:67226155-67226155	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2629C>T; p.P877S; 13:67225812-67225812	skin	malignant_melanoma	Substitution - Missense
c.2629C>T; p.P877S; 13:67225812-67225812	skin	malignant_melanoma	Substitution - Missense
c.2051T>A; p.F684Y; 13:67226390-67226390	pancreas	other; adenoma	Substitution - Missense
c.253A>T; p.I85F; 13:67228188-67228188	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3665A>C; p.Y1222S; 13:66304704-66304704	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.75A>C; p.E25D; 13:67228366-67228366	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.768A>C; p.Q256H; 13:67227673-67227673	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1028C>T; p.T343M; 13:67227413-67227413	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.890C>A; p.P297H; 13:67227551-67227551	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1395C>T; p.N465N; 13:67227046-67227046	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2483T>C; p.V828A; 13:67225958-67225958	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3435T>C; p.P1145P; 13:66304934-66304934	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3505A>C; p.K1169Q; 13:66304864-66304864	pancreas	NS	Substitution - Missense
c.701G>T; p.S234I; 13:67227740-67227740	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2384C>T; p.P795L; 13:67226057-67226057	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1146G>T; p.K382N; 13:67227295-67227295	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.628T>C; p.L210L; 13:67227813-67227813	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.976C>T; p.H326Y; 13:67227465-67227465	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2411G>A; p.S804N; 13:67226030-67226030	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.976C>T; p.H326Y; 13:67227465-67227465	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1146G>T; p.K382N; 13:67227295-67227295	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3583C>A; p.R1195S; 13:66304786-66304786	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2662G>A; p.E888K; 13:67225779-67225779	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2662G>A; p.E888K; 13:67225779-67225779	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.161C>T; p.A54V; 13:67228280-67228280	breast	carcinoma	Substitution - Missense
c.235delT; p.S79fs*14; 13:67228206-67228206	breast	carcinoma	Deletion - Frameshift
c.2998G>A; p.G1000R; 13:67225443-67225443	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2706G>A; p.G902G; 13:67225735-67225735	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2677G>A; p.D893N; 13:67225764-67225764	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1291G>T; p.G431C; 13:67227150-67227150	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1412A>G; p.Q471R; 13:67227029-67227029	oesophagus	carcinoma	Substitution - Missense
c.1667C>T; p.A556V; 13:67226774-67226774	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.901A>G; p.R301G; 13:67227540-67227540	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3561C>A; p.S1187R; 13:66304808-66304808	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1769C>A; p.T590N; 13:67226672-67226672	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.901A>G; p.R301G; 13:67227540-67227540	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2527A>T; p.R843W; 13:67225914-67225914	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.901A>G; p.R301G; 13:67227540-67227540	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.901A>G; p.R301G; 13:67227540-67227540	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3224G>A; p.G1075D; 13:66631326-66631326	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2179C>T; p.R727W; 13:67226262-67226262	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2179C>T; p.R727W; 13:67226262-67226262	pancreas	carcinoma	Substitution - Missense
c.2085C>T; p.S695S; 13:67226356-67226356	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2909A>G; p.D970G; 13:67225532-67225532	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2263A>T; p.I755L; 13:67226178-67226178	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2179C>T; p.R727W; 13:67226262-67226262	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1430C>T; p.S477L; 13:67227011-67227011	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1747G>T; p.E583*; 13:67226694-67226694	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2929T>C; p.C977R; 13:67225512-67225512	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3626G>A; p.S1209N; 13:66304743-66304743	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.169_170GG>AC; p.G57T; 13:67228271-67228272	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.856delG; p.E286fs*20; 13:67227585-67227585	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1525G>C; p.G509R; 13:67226916-67226916	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2802C>T; p.D934D; 13:67225639-67225639	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1734A>C; p.Q578H; 13:67226707-67226707	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2689C>T; p.H897Y; 13:67225752-67225752	skin; head_neck	carcinoma; squamous_cell_carcinoma	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]