Entrez Gene

Basic Information
Gene ID	5783
Name	PTPN13
Synonymous	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase);PTPN13;protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)
Definition	fas-associated protein-tyrosine phosphatase 1\|hPTPE1\|protein-tyrosine phosphatase 1E\|protein-tyrosine phosphatase PTPL1\|tyrosine-protein phosphatase non-receptor type 13
Position	4q21.3
Gene Type	protein-coding
Mutation summary:	Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72

Mutation summary in protein domains

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

Loss of Function mutations compare to missense mutations

Top

The ratio of the loss-of-function mutations over missense mutations is 0.15.

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.5710G>T; p.G1904*; 4:86775456-86775456	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2934C>T; p.L978L; 4:86750753-86750753	skin	malignant_melanoma	Substitution - coding silent
c.4789G>A; p.V1597M; 4:86770170-86770170	prostate	carcinoma	Substitution - Missense
c.3600G>T; p.M1200I; 4:86762773-86762773	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.6652C>A; p.P2218T; 4:86803840-86803840	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2660C>T; p.S887L; 4:86750479-86750479	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2660C>T; p.S887L; 4:86750479-86750479	skin	malignant_melanoma	Substitution - Missense
c.7337G>T; p.R2446L; 4:86811068-86811068	prostate	carcinoma	Substitution - Missense
c.2660C>T; p.S887L; 4:86750479-86750479	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2660C>T; p.S887L; 4:86750479-86750479	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.671A>G; p.K224R; 4:86701277-86701277	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7342A>G; p.M2448V; 4:86811073-86811073	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2870C>G; p.A957G; 4:86750689-86750689	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4583C>T; p.P1528L; 4:86769847-86769847	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7265C>A; p.T2422N; 4:86809935-86809935	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.5266G>C; p.D1756H; 4:86772860-86772860	breast	carcinoma	Substitution - Missense
c.677C>T; p.P226L; 4:86701283-86701283	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1191_1193delAGA; p.E399delE; 4:86701797-86701799	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.4086G>A; p.K1362K; 4:86764661-86764661	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1454A>G; p.E485G; 4:86722280-86722280	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.848delA; p.K285fs*45; 4:86701454-86701454	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.848delA; p.K285fs*45; 4:86701454-86701454	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.6935T>C; p.M2312T; 4:86807734-86807734	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4564C>T; p.R1522*; 4:86769828-86769828	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3664C>T; p.R1222C; 4:86762837-86762837	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3971A>T; p.D1324V; 4:86763144-86763144	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4564C>T; p.R1522*; 4:86769828-86769828	skin; ankle	malignant_melanoma	Substitution - Nonsense
c.3493C>T; p.Q1165*; 4:86759013-86759013	soft_tissue; striated_muscle	rhabdomyosarcoma	Substitution - Nonsense
c.3243G>A; p.W1081*; 4:86758279-86758279	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1555G>A; p.D519N; 4:86722381-86722381	breast	carcinoma	Substitution - Missense
c.1081_1082CC>TT; p.P361L; 4:86701687-86701688	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3493C>T; p.Q1165*; 4:86759013-86759013	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - Nonsense
c.6652C>T; p.P2218S; 4:86803840-86803840	skin	malignant_melanoma	Substitution - Missense
c.6335C>A; p.S2112*; 4:86785911-86785911	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2019T>C; p.T673T; 4:86734743-86734743	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1399A>C; p.T467P; 4:86722225-86722225	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.5741A>T; p.Y1914F; 4:86775487-86775487	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1123T>G; p.S375A; 4:86701729-86701729	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3756G>A; p.E1252E; 4:86762929-86762929	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2059A>G; p.I687V; 4:86734783-86734783	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1563A>G; p.L521L; 4:86722389-86722389	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2601C>T; p.F867F; 4:86745079-86745079	large_intestine; colon	adenoma	Substitution - coding silent
c.6436G>T; p.E2146*; 4:86799120-86799120	breast	carcinoma	Substitution - Nonsense
c.7417C>A; p.L2473M; 4:86814495-86814495	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.509A>G; p.K170R; 4:86689153-86689153	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.68C>T; p.A23V; 4:86635324-86635324	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3262G>C; p.E1088Q; 4:86758298-86758298	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.3274A>G; p.T1092A; 4:86758310-86758310	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6990C>T; p.N2330N; 4:86807789-86807789	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.725G>A; p.G242E; 4:86701331-86701331	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1684-1G>A; p.?; 4:86732591-86732591	lung	carcinoma; adenocarcinoma	Unknown
c.7014C>G; p.V2338V; 4:86807813-86807813	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4164+8A>G; p.?; 4:86764747-86764747	liver	carcinoma	Unknown
c.4164+8A>G; p.?; 4:86764747-86764747	liver	carcinoma	Unknown
c.764T>G; p.F255C; 4:86701370-86701370	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6059A>G; p.N2020S; 4:86784484-86784484	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6350A>G; p.Y2117C; 4:86785926-86785926	liver	carcinoma	Substitution - Missense
c.4704A>T; p.K1568N; 4:86769968-86769968	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.799G>T; p.D267Y; 4:86701405-86701405	haematopoietic_and_lymphoid_tissue; central_nervous_system	lymphoid_neoplasm; primary_central_nervous_system_lymphoma	Substitution - Missense
c.6631G>A; p.G2211S; 4:86803819-86803819	skin	malignant_melanoma	Substitution - Missense
c.5660C>T; p.P1887L; 4:86775307-86775307	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.6894delC; p.W2299fs*3; 4:86807693-86807693	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2484T>A; p.F828L; 4:86741813-86741813	skin	malignant_melanoma	Substitution - Missense
c.1712G>A; p.R571Q; 4:86732620-86732620	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6754C>A; p.L2252I; 4:86805363-86805363	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.831C>G; p.F277L; 4:86701437-86701437	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1139G>A; p.R380Q; 4:86701745-86701745	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6477T>C; p.D2159D; 4:86799161-86799161	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3718C>T; p.R1240W; 4:86762891-86762891	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6437A>G; p.E2146G; 4:86799121-86799121	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.7318G>A; p.D2440N; 4:86811049-86811049	NS	NS	Substitution - Missense
c.4265G>A; p.R1422H; 4:86766438-86766438	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3354C>T; p.D1118D; 4:86758718-86758718	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.6846C>T; p.F2282F; 4:86807645-86807645	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5409C>T; p.S1803S; 4:86774417-86774417	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.6846C>T; p.F2282F; 4:86807645-86807645	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.6846C>T; p.F2282F; 4:86807645-86807645	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2644G>T; p.D882Y; 4:86745122-86745122	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.6846C>T; p.F2282F; 4:86807645-86807645	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1249G>T; p.E417*; 4:86716583-86716583	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1858+2T>C; p.?; 4:86732768-86732768	urinary_tract; bladder	carcinoma	Unknown
c.4625T>G; p.F1542C; 4:86769889-86769889	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4768C>A; p.L1590I; 4:86770149-86770149	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5221C>T; p.Q1741*; 4:86772815-86772815	liver	carcinoma	Substitution - Nonsense
c.3815A>C; p.Q1272P; 4:86762988-86762988	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3754G>C; p.E1252Q; 4:86762927-86762927	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3001G>T; p.G1001*; 4:86750820-86750820	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.6540C>T; p.N2180N; 4:86803728-86803728	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1352A>G; p.E451G; 4:86717084-86717084	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3380C>T; p.A1127V; 4:86758744-86758744	skin	malignant_melanoma	Substitution - Missense
c.3084G>A; p.A1028A; 4:86751042-86751042	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3727A>C; p.S1243R; 4:86762900-86762900	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5216C>A; p.P1739H; 4:86772810-86772810	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.6423T>G; p.I2141M; 4:86799107-86799107	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3588G>A; p.M1196I; 4:86762761-86762761	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6C>G; p.H2Q; 4:86635262-86635262	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6C>G; p.H2Q; 4:86635262-86635262	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6C>G; p.H2Q; 4:86635262-86635262	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2751C>T; p.L917L; 4:86750570-86750570	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.353A>G; p.Q118R; 4:86686768-86686768	breast	carcinoma	Substitution - Missense
c.5410C>T; p.L1804L; 4:86774418-86774418	liver	carcinoma	Substitution - coding silent
c.5410C>T; p.L1804L; 4:86774418-86774418	liver	carcinoma	Substitution - coding silent
c.4615delA; p.K1540fs*16; 4:86769879-86769879	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2050C>T; p.R684*; 4:86734774-86734774	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2050C>T; p.R684*; 4:86734774-86734774	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3206T>C; p.V1069A; 4:86753048-86753048	liver	carcinoma	Substitution - Missense
c.7105G>C; p.E2369Q; 4:86809775-86809775	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4565G>A; p.R1522Q; 4:86769829-86769829	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3099T>C; p.S1033S; 4:86751057-86751057	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1740C>T; p.N580N; 4:86732648-86732648	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.6128C>T; p.P2043L; 4:86784553-86784553	skin	malignant_melanoma	Substitution - Missense
c.3501A>G; p.A1167A; 4:86759021-86759021	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.939C>T; p.F313F; 4:86701545-86701545	skin	malignant_melanoma	Substitution - coding silent
c.3099T>C; p.S1033S; 4:86751057-86751057	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.7146A>C; p.P2382P; 4:86809816-86809816	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - coding silent
c.6238G>A; p.E2080K; 4:86785335-86785335	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.439C>T; p.R147W; 4:86689083-86689083	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5378T>A; p.L1793H; 4:86774386-86774386	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4220C>T; p.P1407L; 4:86765450-86765450	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6991A>G; p.I2331V; 4:86807790-86807790	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6363C>T; p.A2121A; 4:86796876-86796876	kidney	other; neoplasm	Substitution - coding silent
c.4546C>T; p.L1516L; 4:86769810-86769810	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4138A>T; p.I1380L; 4:86764713-86764713	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.6093T>G; p.T2031T; 4:86784518-86784518	skin	malignant_melanoma	Substitution - coding silent
c.1793T>C; p.F598S; 4:86732701-86732701	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7191C>G; p.I2397M; 4:86809861-86809861	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.6798C>T; p.G2266G; 4:86807597-86807597	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4567G>A; p.E1523K; 4:86769831-86769831	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.510A>C; p.K170N; 4:86689154-86689154	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5614C>T; p.R1872*; 4:86775261-86775261	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4692A>G; p.G1564G; 4:86769956-86769956	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.6628C>T; p.R2210W; 4:86803816-86803816	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7011G>A; p.M2337I; 4:86807810-86807810	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.6701G>T; p.C2234F; 4:86805310-86805310	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.7264A>G; p.T2422A; 4:86809934-86809934	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2103G>C; p.L701F; 4:86734827-86734827	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.7128G>A; p.L2376L; 4:86809798-86809798	skin	malignant_melanoma	Substitution - coding silent
c.6682T>C; p.L2228L; 4:86805291-86805291	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4560T>A; p.F1520L; 4:86769824-86769824	skin	malignant_melanoma	Substitution - Missense
c.3525C>T; p.I1175I; 4:86759045-86759045	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2018C>T; p.T673I; 4:86734742-86734742	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.7027C>T; p.R2343*; 4:86807826-86807826	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Nonsense
c.7027C>T; p.R2343*; 4:86807826-86807826	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.7027C>T; p.R2343*; 4:86807826-86807826	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.7027C>T; p.R2343*; 4:86807826-86807826	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2769A>C; p.R923R; 4:86750588-86750588	liver	carcinoma	Substitution - coding silent
c.1533G>T; p.A511A; 4:86722359-86722359	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2934C>G; p.L978L; 4:86750753-86750753	breast	carcinoma	Substitution - coding silent
c.1031A>G; p.Y344C; 4:86701637-86701637	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7355G>T; p.R2452I; 4:86811086-86811086	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7404C>T; p.V2468V; 4:86814482-86814482	skin	malignant_melanoma	Substitution - coding silent
c.2086G>T; p.D696Y; 4:86734810-86734810	pancreas	carcinoma	Substitution - Missense
c.5206G>T; p.D1736Y; 4:86772800-86772800	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5945C>T; p.A1982V; 4:86780440-86780440	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6412G>A; p.E2138K; 4:86796925-86796925	skin	malignant_melanoma	Substitution - Missense
c.5330A>C; p.N1777T; 4:86772924-86772924	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.6648A>C; p.G2216G; 4:86803836-86803836	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.6508G>A; p.D2170N; 4:86799192-86799192	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1376A>C; p.Q459P; 4:86717108-86717108	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3734G>A; p.S1245N; 4:86762907-86762907	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2878G>T; p.E960*; 4:86750697-86750697	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Nonsense
c.1944C>G; p.T648T; 4:86734388-86734388	NS	NS	Substitution - coding silent
c.1627T>C; p.F543L; 4:86732418-86732418	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.434C>T; p.S145F; 4:86689078-86689078	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.805G>C; p.E269Q; 4:86701411-86701411	urinary_tract; bladder	carcinoma	Substitution - Missense
c.6699G>T; p.Q2233H; 4:86805308-86805308	breast	carcinoma	Substitution - Missense
c.7333G>T; p.V2445L; 4:86811064-86811064	kidney	other; neoplasm	Substitution - Missense
c.5633G>A; p.R1878K; 4:86775280-86775280	breast	carcinoma	Substitution - Missense
c.1541T>G; p.L514R; 4:86722367-86722367	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.5533A>G; p.T1845A; 4:86775180-86775180	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.613C>T; p.R205*; 4:86693653-86693653	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.613C>T; p.R205*; 4:86693653-86693653	skin; extremity	malignant_melanoma	Substitution - Nonsense
c.1541T>G; p.L514R; 4:86722367-86722367	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.3504T>C; p.P1168P; 4:86759024-86759024	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.7118T>C; p.I2373T; 4:86809788-86809788	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.7118T>C; p.I2373T; 4:86809788-86809788	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.6134-2A>T; p.?; 4:86785229-86785229	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.3214A>C; p.K1072Q; 4:86753056-86753056	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.6629G>A; p.R2210Q; 4:86803817-86803817	skin	malignant_melanoma	Substitution - Missense
c.3771T>A; p.S1257S; 4:86762944-86762944	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2635G>C; p.D879H; 4:86745113-86745113	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.4266C>T; p.R1422R; 4:86766439-86766439	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.6068C>T; p.S2023L; 4:86784493-86784493	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.765C>G; p.F255L; 4:86701371-86701371	urinary_tract; bladder	carcinoma	Substitution - Missense
c.751G>A; p.D251N; 4:86701357-86701357	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7265C>T; p.T2422I; 4:86809935-86809935	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1590G>C; p.M530I; 4:86722416-86722416	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5925C>T; p.V1975V; 4:86780420-86780420	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.6603C>T; p.N2201N; 4:86803791-86803791	liver	carcinoma	Substitution - coding silent
c.6603C>T; p.N2201N; 4:86803791-86803791	liver	carcinoma	Substitution - coding silent
c.2854G>T; p.E952*; 4:86750673-86750673	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2854G>T; p.E952*; 4:86750673-86750673	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3599T>C; p.M1200T; 4:86762772-86762772	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2854G>T; p.E952*; 4:86750673-86750673	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.7266C>T; p.T2422T; 4:86809936-86809936	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.847_848insA; p.P286fs*6; 4:86701453-86701454	liver	carcinoma	Insertion - Frameshift
c.631A>G; p.T211A; 4:86693671-86693671	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4197C>T; p.G1399G; 4:86765427-86765427	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3778C>T; p.Q1260*; 4:86762951-86762951	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3524T>C; p.I1175T; 4:86759044-86759044	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3524T>C; p.I1175T; 4:86759044-86759044	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3524T>C; p.I1175T; 4:86759044-86759044	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2664T>C; p.F888F; 4:86750483-86750483	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.860T>A; p.I287N; 4:86701466-86701466	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.866G>A; p.G289D; 4:86701472-86701472	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.607C>T; p.R203*; 4:86693647-86693647	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4574A>G; p.N1525S; 4:86769838-86769838	skin; knee	malignant_melanoma	Substitution - Missense
c.789T>G; p.S263S; 4:86701395-86701395	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4739G>T; p.R1580M; 4:86770120-86770120	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2487+2T>C; p.?; 4:86741818-86741818	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.3822_3841del20; p.Q1275fs*17; 4:86762995-86763014	skin	malignant_melanoma	Deletion - Frameshift
c.6758C>T; p.P2253L; 4:86805367-86805367	skin	malignant_melanoma	Substitution - Missense
c.820C>A; p.P274T; 4:86701426-86701426	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7309C>A; p.L2437I; 4:86809979-86809979	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2770C>T; p.P924S; 4:86750589-86750589	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6931G>A; p.A2311T; 4:86807730-86807730	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.6520G>A; p.D2174N; 4:86799204-86799204	skin; extremity	malignant_melanoma	Substitution - Missense
c.4325_4326insA; p.L1443fs*21; 4:86766498-86766499	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Insertion - Frameshift
c.872A>G; p.D291G; 4:86701478-86701478	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6595G>A; p.G2199S; 4:86803783-86803783	skin	malignant_melanoma	Substitution - Missense
c.7408C>T; p.L2470F; 4:86814486-86814486	skin	malignant_melanoma	Substitution - Missense
c.1130C>A; p.A377D; 4:86701736-86701736	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1130C>A; p.A377D; 4:86701736-86701736	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5192C>T; p.S1731F; 4:86772786-86772786	skin	malignant_melanoma	Substitution - Missense
c.5339A>G; p.E1780G; 4:86772933-86772933	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1130C>A; p.A377D; 4:86701736-86701736	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5097T>C; p.H1699H; 4:86771449-86771449	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.7462C>A; p.L2488I; 4:86814540-86814540	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2919C>T; p.L973L; 4:86750738-86750738	skin	malignant_melanoma	Substitution - coding silent
c.793C>T; p.R265C; 4:86701399-86701399	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.793C>T; p.R265C; 4:86701399-86701399	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1985T>G; p.F662C; 4:86734429-86734429	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1985T>G; p.F662C; 4:86734429-86734429	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5344C>T; p.H1782Y; 4:86772938-86772938	skin	malignant_melanoma	Substitution - Missense
c.2919C>T; p.L973L; 4:86750738-86750738	skin	malignant_melanoma	Substitution - coding silent
c.4661A>G; p.D1554G; 4:86769925-86769925	breast	carcinoma	Substitution - Missense
c.121C>T; p.L41L; 4:86672370-86672370	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.7437A>G; p.E2479E; 4:86814515-86814515	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4454delA; p.V1487fs*1; 4:86767926-86767926	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3955G>T; p.G1319*; 4:86763128-86763128	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.4258G>T; p.G1420C; 4:86765488-86765488	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2313A>C; p.Q771H; 4:86741642-86741642	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1145G>A; p.R382Q; 4:86701751-86701751	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1145G>A; p.R382Q; 4:86701751-86701751	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1579G>C; p.E527Q; 4:86722405-86722405	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3905G>T; p.S1302I; 4:86763078-86763078	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.4580T>C; p.I1527T; 4:86769844-86769844	liver	carcinoma	Substitution - Missense
c.2639C>G; p.A880G; 4:86745117-86745117	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6213T>A; p.D2071E; 4:86785310-86785310	ovary	other; neoplasm	Substitution - Missense
c.1304A>G; p.E435G; 4:86717036-86717036	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3876G>T; p.E1292D; 4:86763049-86763049	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.54G>A; p.E18E; 4:86635310-86635310	skin	malignant_melanoma	Substitution - coding silent
c.5766C>T; p.S1922S; 4:86775512-86775512	skin	malignant_melanoma	Substitution - coding silent
c.6943C>G; p.Q2315E; 4:86807742-86807742	breast	carcinoma	Substitution - Missense
c.2190G>T; p.L730F; 4:86735632-86735632	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1684-1G>C; p.?; 4:86732591-86732591	breast	carcinoma	Unknown
c.3083C>T; p.A1028V; 4:86751041-86751041	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2786C>G; p.A929G; 4:86750605-86750605	breast	carcinoma	Substitution - Missense
c.2431G>T; p.V811L; 4:86741760-86741760	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.2405T>C; p.V802A; 4:86741734-86741734	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2534G>A; p.G845D; 4:86745012-86745012	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4085A>C; p.K1362T; 4:86764660-86764660	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6631G>T; p.G2211C; 4:86803819-86803819	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5149C>G; p.Q1717E; 4:86771501-86771501	NS	NS	Substitution - Missense
c.1535C>T; p.S512F; 4:86722361-86722361	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7248C>T; p.G2416G; 4:86809918-86809918	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4505-3C>A; p.?; 4:86769766-86769766	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Unknown
c.646A>T; p.T216S; 4:86701252-86701252	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.716A>C; p.K239T; 4:86701322-86701322	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2284_2285delAC; p.T762fs*24; 4:86735726-86735727	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.6532C>T; p.L2178L; 4:86803720-86803720	breast	carcinoma	Substitution - coding silent
c.6346G>C; p.E2116Q; 4:86785922-86785922	breast	carcinoma	Substitution - Missense
c.4691G>A; p.G1564E; 4:86769955-86769955	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.6237C>T; p.N2079N; 4:86785334-86785334	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.7232C>T; p.T2411M; 4:86809902-86809902	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4950C>T; p.S1650S; 4:86771302-86771302	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.6593C>T; p.T2198M; 4:86803781-86803781	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2853A>C; p.K951N; 4:86750672-86750672	breast	carcinoma	Substitution - Missense
c.2487+1G>T; p.?; 4:86741817-86741817	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.724G>A; p.G242R; 4:86701330-86701330	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7472G>A; p.2491; 4:86814550-86814550	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2513C>T; p.T838I; 4:86744991-86744991	pancreas	carcinoma	Substitution - Missense
c.6250G>T; p.A2084S; 4:86785347-86785347	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4686G>A; p.V1562V; 4:86769950-86769950	breast	carcinoma	Substitution - coding silent
c.4590A>C; p.Q1530H; 4:86769854-86769854	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3413T>C; p.L1138S; 4:86758777-86758777	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.301A>C; p.I101L; 4:86686716-86686716	ovary	other; neoplasm	Substitution - Missense
c.5275C>T; p.H1759Y; 4:86772869-86772869	skin	malignant_melanoma	Substitution - Missense
c.2422C>T; p.H808Y; 4:86741751-86741751	skin	malignant_melanoma	Substitution - Missense
c.1097G>A; p.R366Q; 4:86701703-86701703	skin	malignant_melanoma	Substitution - Missense
c.4146C>T; p.V1382V; 4:86764721-86764721	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5943T>G; p.S1981S; 4:86780438-86780438	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3770C>A; p.S1257Y; 4:86762943-86762943	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4483G>T; p.D1495Y; 4:86767955-86767955	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1222_1224delCAT; p.H408delH; 4:86716556-86716558	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Deletion - In frame
c.5320C>T; p.P1774S; 4:86772914-86772914	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3704C>T; p.P1235L; 4:86762877-86762877	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.423C>T; p.Y141Y; 4:86689067-86689067	pancreas	carcinoma	Substitution - coding silent
c.3754G>A; p.E1252K; 4:86762927-86762927	breast	carcinoma	Substitution - Missense
c.5485A>T; p.S1829C; 4:86774493-86774493	liver	carcinoma	Substitution - Missense
c.5485A>T; p.S1829C; 4:86774493-86774493	liver	carcinoma	Substitution - Missense
c.4385C>T; p.S1462F; 4:86767857-86767857	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4944C>T; p.C1648C; 4:86771296-86771296	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3525C>G; p.I1175M; 4:86759045-86759045	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4803T>G; p.I1601M; 4:86770184-86770184	breast	carcinoma	Substitution - Missense
c.4426G>T; p.D1476Y; 4:86767898-86767898	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1096C>A; p.R366R; 4:86701702-86701702	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.4890G>C; p.E1630D; 4:86771242-86771242	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1386-5T>C; p.?; 4:86722207-86722207	liver	carcinoma	Unknown
c.3239G>T; p.R1080I; 4:86758275-86758275	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.4185C>T; p.V1395V; 4:86765415-86765415	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5184-1G>A; p.?; 4:86772777-86772777	skin	malignant_melanoma	Unknown
c.6966C>T; p.I2322I; 4:86807765-86807765	skin	malignant_melanoma	Substitution - coding silent
c.5262G>A; p.S1754S; 4:86772856-86772856	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5357T>G; p.F1786C; 4:86772951-86772951	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1138C>T; p.R380*; 4:86701744-86701744	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5262G>A; p.S1754S; 4:86772856-86772856	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.5300C>G; p.T1767S; 4:86772894-86772894	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1953T>C; p.T651T; 4:86734397-86734397	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3268G>T; p.E1090*; 4:86758304-86758304	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2019T>A; p.T673T; 4:86734743-86734743	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.7169C>A; p.P2390Q; 4:86809839-86809839	liver	carcinoma	Substitution - Missense
c.3268G>T; p.E1090*; 4:86758304-86758304	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2096C>A; p.S699Y; 4:86734820-86734820	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6594G>A; p.T2198T; 4:86803782-86803782	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.7169C>A; p.P2390Q; 4:86809839-86809839	liver	carcinoma	Substitution - Missense
c.5437C>T; p.Q1813*; 4:86774445-86774445	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2344C>T; p.R782*; 4:86741673-86741673	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2017A>G; p.T673A; 4:86734741-86734741	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2655A>G; p.R885R; 4:86750474-86750474	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - coding silent
c.34C>T; p.R12W; 4:86635290-86635290	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2017A>G; p.T673A; 4:86734741-86734741	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2017A>G; p.T673A; 4:86734741-86734741	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4012A>G; p.K1338E; 4:86763185-86763185	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1444C>T; p.R482W; 4:86722270-86722270	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2017A>G; p.T673A; 4:86734741-86734741	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.356G>T; p.S119I; 4:86686771-86686771	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5261C>T; p.S1754L; 4:86772855-86772855	skin; face	malignant_melanoma	Substitution - Missense
c.2945G>A; p.R982Q; 4:86750764-86750764	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4581A>G; p.I1527M; 4:86769845-86769845	skin	malignant_melanoma	Substitution - Missense
c.4623C>T; p.L1541L; 4:86769887-86769887	skin	malignant_melanoma	Substitution - coding silent
c.5261C>T; p.S1754L; 4:86772855-86772855	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4581A>G; p.I1527M; 4:86769845-86769845	skin; knee	malignant_melanoma	Substitution - Missense
c.3344G>A; p.G1115E; 4:86758708-86758708	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1795G>A; p.D599N; 4:86732703-86732703	breast	carcinoma	Substitution - Missense
c.6577C>T; p.P2193S; 4:86803765-86803765	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2764G>A; p.V922I; 4:86750583-86750583	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.3048A>G; p.A1016A; 4:86750867-86750867	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.7111C>T; p.R2371C; 4:86809781-86809781	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7438G>C; p.E2480Q; 4:86814516-86814516	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2829C>T; p.Y943Y; 4:86750648-86750648	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2578C>A; p.L860I; 4:86745056-86745056	liver	carcinoma	Substitution - Missense
c.2578C>A; p.L860I; 4:86745056-86745056	liver	carcinoma	Substitution - Missense
c.2482T>G; p.F828V; 4:86741811-86741811	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2416G>C; p.E806Q; 4:86741745-86741745	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.798A>C; p.E266D; 4:86701404-86701404	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3719G>A; p.R1240Q; 4:86762892-86762892	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3719G>A; p.R1240Q; 4:86762892-86762892	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.5082G>T; p.Q1694H; 4:86771434-86771434	pancreas	carcinoma	Substitution - Missense
c.2713C>T; p.R905*; 4:86750532-86750532	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4892A>T; p.Q1631L; 4:86771244-86771244	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4725C>T; p.V1575V; 4:86770106-86770106	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.998C>A; p.T333N; 4:86701604-86701604	liver	carcinoma	Substitution - Missense
c.6985C>T; p.P2329S; 4:86807784-86807784	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5989G>T; p.V1997L; 4:86782212-86782212	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1204C>T; p.R402*; 4:86716538-86716538	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1010C>G; p.P337R; 4:86701616-86701616	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1204C>T; p.R402*; 4:86716538-86716538	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2883A>G; p.E961E; 4:86750702-86750702	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.5577C>T; p.L1859L; 4:86775224-86775224	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2435G>A; p.R812H; 4:86741764-86741764	thyroid	carcinoma	Substitution - Missense
c.1204C>T; p.R402*; 4:86716538-86716538	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1204C>T; p.R402*; 4:86716538-86716538	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.5879T>G; p.L1960R; 4:86775625-86775625	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.6333T>C; p.G2111G; 4:86785909-86785909	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2810G>T; p.C937F; 4:86750629-86750629	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7400A>T; p.Q2467L; 4:86814478-86814478	skin	malignant_melanoma	Substitution - Missense
c.1195G>T; p.E399*; 4:86701801-86701801	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.4578T>C; p.L1526L; 4:86769842-86769842	breast	carcinoma; ductal_carcinoma	Substitution - coding silent
c.4830G>T; p.Q1610H; 4:86771182-86771182	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	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]