Entrez Gene

Basic Information
Gene ID	841
Name	CASP8
Synonymous	caspase 8, apoptosis-related cysteine peptidase;CASP8;caspase 8, apoptosis-related cysteine peptidase
Definition	FADD-homologous ICE/CED-3-like protease\|FADD-like ICE\|ICE-like apoptotic protease 5\|MACH-alpha-1/2/3 protein\|MACH-beta-1/2/3/4 protein\|MORT1-associated ced-3 homolog\|apoptotic cysteine protease\|apoptotic protease Mch-5\|caspase 8, apoptosis-related cystein
Position	2q33-q34
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 0.35.

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.1034G>T; p.G345V; 2:201284996-201284996	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.62_63CC>TT; p.S21F; 2:201266548-201266549	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1490G>C; p.*497S; 2:201286593-201286593	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Nonstop extension
c.1490G>C; p.*497S; 2:201286593-201286593	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Nonstop extension
c.1424A>T; p.N475I; 2:201286527-201286527	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.734T>C; p.M245T; 2:201276849-201276849	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.534G>A; p.M178I; 2:201272664-201272664	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.734T>C; p.M245T; 2:201276849-201276849	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.166G>T; p.E56*; 2:201266652-201266652	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.185T>C; p.L62P; 2:201266671-201266671	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1431_1432insG; p.K478fs*19; 2:201286534-201286535	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1280T>C; p.V427A; 2:201285242-201285242	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.684T>A; p.S228S; 2:201274926-201274926	liver	carcinoma	Substitution - coding silent
c.876A>G; p.E292E; 2:201284838-201284838	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.684T>A; p.S228S; 2:201274926-201274926	liver	carcinoma	Substitution - coding silent
c.20T>A; p.L7H; 2:201266506-201266506	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1232C>T; p.P411L; 2:201285194-201285194	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1232C>T; p.P411L; 2:201285194-201285194	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1232C>T; p.P411L; 2:201285194-201285194	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1232C>T; p.P411L; 2:201285194-201285194	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.606C>A; p.S202R; 2:201272736-201272736	skin	malignant_melanoma	Substitution - Missense
c.660_661insG; p.V222fs*13; 2:201274902-201274903	large_intestine; rectum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.774T>A; p.N258K; 2:201276889-201276889	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1087_1089delCCT; p.P363delP; 2:201285049-201285051	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.505A>C; p.M169L; 2:201271619-201271619	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.29T>C; p.I10T; 2:201266515-201266515	urinary_tract; bladder	carcinoma	Substitution - Missense
c.678G>A; p.S226S; 2:201274920-201274920	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1220C>T; p.T407M; 2:201285182-201285182	breast	carcinoma	Substitution - Missense
c.678G>A; p.S226S; 2:201274920-201274920	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.1234G>A; p.D412N; 2:201285196-201285196	skin; trunk	malignant_melanoma; nodular	Substitution - Missense
c.1109A>C; p.K370T; 2:201285071-201285071	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.748C>T; p.R250W; 2:201276863-201276863	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.748C>T; p.R250W; 2:201276863-201276863	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.748C>T; p.R250W; 2:201276863-201276863	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.211A>T; p.R71*; 2:201266697-201266697	liver	carcinoma	Substitution - Nonsense
c.748C>T; p.R250W; 2:201276863-201276863	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.910T>G; p.C304G; 2:201284872-201284872	liver	carcinoma	Substitution - Missense
c.748C>T; p.R250W; 2:201276863-201276863	breast	carcinoma	Substitution - Missense
c.748C>T; p.R250W; 2:201276863-201276863	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.442G>A; p.E148K; 2:201271556-201271556	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.573C>A; p.I191I; 2:201272703-201272703	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1427_1428insG; p.K478fs*19; 2:201286530-201286531	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1093C>T; p.L365F; 2:201285055-201285055	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.74T>C; p.L25P; 2:201266560-201266560	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1093C>T; p.L365F; 2:201285055-201285055	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.1195G>T; p.E399*; 2:201285157-201285157	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1195G>T; p.E399*; 2:201285157-201285157	endometrium	carcinoma; serous_carcinoma	Substitution - Nonsense
c.1195G>T; p.E399*; 2:201285157-201285157	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1020_1023delCTAT; p.I340fs*13; 2:201284982-201284985	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Deletion - Frameshift
c.1106C>A; p.P369H; 2:201285068-201285068	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.253G>T; p.E85*; 2:201266739-201266739	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.202C>T; p.R68*; 2:201266688-201266688	breast	carcinoma	Substitution - Nonsense
c.202C>T; p.R68*; 2:201266688-201266688	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.948C>A; p.Y316*; 2:201284910-201284910	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.202C>T; p.R68*; 2:201266688-201266688	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.202C>T; p.R68*; 2:201266688-201266688	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.161T>C; p.L54S; 2:201266647-201266647	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.1064C>G; p.S355C; 2:201285026-201285026	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1376T>C; p.I459T; 2:201286479-201286479	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.32G>A; p.G11E; 2:201266518-201266518	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.758G>A; p.C253Y; 2:201276873-201276873	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.686C>T; p.P229L; 2:201274928-201274928	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1381A>C; p.T461P; 2:201286484-201286484	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.698A>G; p.D233G; 2:201274940-201274940	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1003G>A; p.G335R; 2:201284965-201284965	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.547A>G; p.I183V; 2:201272677-201272677	breast	carcinoma	Substitution - Missense
c.588_589delTG; p.A197fs*14; 2:201272718-201272719	stomach	carcinoma; diffuse_adenocarcinoma	Deletion - Frameshift
c.588_589delTG; p.A197fs*14; 2:201272718-201272719	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.1311G>C; p.W437C; 2:201285273-201285273	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1345C>T; p.R449*; 2:201285307-201285307	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1345C>T; p.R449*; 2:201285307-201285307	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1175C>T; p.S392L; 2:201285137-201285137	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.595A>C; p.I199L; 2:201272725-201272725	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.595A>C; p.I199L; 2:201272725-201272725	breast	carcinoma	Substitution - Missense
c.93G>A; p.P31P; 2:201266579-201266579	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.93G>A; p.P31P; 2:201266579-201266579	breast	carcinoma	Substitution - coding silent
c.1132C>T; p.Q378*; 2:201285094-201285094	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1345C>T; p.R449*; 2:201285307-201285307	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1213C>T; p.P405S; 2:201285175-201285175	skin	malignant_melanoma	Substitution - Missense
c.423_425delAGA; p.E143delE; 2:201271537-201271539	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1354C>T; p.R452*; 2:201285316-201285316	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1354C>T; p.R452*; 2:201285316-201285316	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1354C>T; p.R452*; 2:201285316-201285316	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1131T>A; p.C377*; 2:201285093-201285093	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1354C>T; p.R452*; 2:201285316-201285316	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.606C>T; p.S202S; 2:201272736-201272736	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1354C>T; p.R452*; 2:201285316-201285316	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Nonsense
c.1354C>T; p.R452*; 2:201285316-201285316	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Nonsense
c.508-1G>T; p.?; 2:201272637-201272637	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.553G>T; p.G185*; 2:201272683-201272683	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Nonsense
c.1330C>T; p.Q444*; 2:201285292-201285292	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.580_581delAG; p.R194fs*17; 2:201272710-201272711	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.480C>A; p.I160I; 2:201271594-201271594	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.203G>T; p.R68L; 2:201266689-201266689	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.526_527delAT; p.I176fs*35; 2:201272656-201272657	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.757T>G; p.C253G; 2:201276872-201276872	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1043delC; p.I350fs*4; 2:201285005-201285005	oesophagus; lower_third	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1064C>T; p.S355F; 2:201285026-201285026	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.708_711+10delACAGGTAGACGGAA; p.?; 2:201274950-201274963	soft_tissue; blood_vessel	angiosarcoma	Unknown
c.773A>G; p.N258S; 2:201276888-201276888	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.773A>G; p.N258S; 2:201276888-201276888	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1356-1G>C; p.?; 2:201286458-201286458	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Unknown
c.1464delA; p.K490fs*>7; 2:201286567-201286567	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1464delA; p.K490fs*>7; 2:201286567-201286567	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1464delA; p.K490fs*>7; 2:201286567-201286567	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.146A>T; p.Q49L; 2:201266632-201266632	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1464delA; p.K490fs*>7; 2:201286567-201286567	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.146A>T; p.Q49L; 2:201266632-201266632	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.581G>T; p.R194I; 2:201272711-201272711	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.749G>A; p.R250Q; 2:201276864-201276864	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1265C>T; p.T422I; 2:201285227-201285227	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1352C>T; p.P451L; 2:201285314-201285314	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1123C>G; p.Q375E; 2:201285085-201285085	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1123C>G; p.Q375E; 2:201285085-201285085	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.987C>A; p.C329*; 2:201284949-201284949	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1208C>G; p.S403*; 2:201285170-201285170	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.14G>T; p.R5I; 2:201266500-201266500	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1208C>G; p.S403*; 2:201285170-201285170	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.618_621delAATC; p.I207fs*15; 2:201272748-201272751	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.1304G>C; p.G435A; 2:201285266-201285266	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.1491+42_1491+43insT; p.?; 2:201286637-201286638	stomach	carcinoma; diffuse_adenocarcinoma	Unknown
c.761T>C; p.L254P; 2:201276876-201276876	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.184_186delCTG; p.L62delL; 2:201266670-201266672	vulva	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.1136G>A; p.G379E; 2:201285098-201285098	skin	malignant_melanoma	Substitution - Missense
c.904G>C; p.D302H; 2:201284866-201284866	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.712-1G>A; p.?; 2:201276826-201276826	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.287C>T; p.A96V; 2:201266773-201266773	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.646+2T>G; p.?; 2:201272778-201272778	lung	carcinoma; adenocarcinoma	Unknown
c.646+1G>A; p.?; 2:201272777-201272777	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.24T>A; p.Y8*; 2:201266510-201266510	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.749delG; p.G251fs*4; 2:201276864-201276864	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.469C>T; p.Q157*; 2:201271583-201271583	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1303G>T; p.G435*; 2:201285265-201285265	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.415C>T; p.Q139*; 2:201271529-201271529	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.222G>T; p.L74F; 2:201266708-201266708	soft_tissue; blood_vessel	angiosarcoma	Substitution - Missense
c.1080G>A; p.L360L; 2:201285042-201285042	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.746C>A; p.P249H; 2:201276861-201276861	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.746C>A; p.P249H; 2:201276861-201276861	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.746C>A; p.P249H; 2:201276861-201276861	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.746C>A; p.P249H; 2:201276861-201276861	large_intestine; colon	carcinoma	Substitution - Missense
c.746C>A; p.P249H; 2:201276861-201276861	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.872T>G; p.F291C; 2:201284834-201284834	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1216C>T; p.Q406*; 2:201285178-201285178	large_intestine; colon	carcinoma	Substitution - Nonsense
c.998C>T; p.S333F; 2:201284960-201284960	breast	carcinoma	Substitution - Missense
c.1216C>T; p.Q406*; 2:201285178-201285178	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1216C>T; p.Q406*; 2:201285178-201285178	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1036C>T; p.Q346*; 2:201284998-201284998	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.728A>T; p.Y243F; 2:201276843-201276843	breast	carcinoma	Substitution - Missense
c.749_749delG; p.G251fs*4; 2:201276864-201276864	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.880C>T; p.L294F; 2:201284842-201284842	breast	carcinoma	Substitution - Missense
c.1033G>A; p.G345R; 2:201284995-201284995	skin	malignant_melanoma	Substitution - Missense
c.998delC; p.H334fs*20; 2:201284960-201284960	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.1288C>T; p.R430*; 2:201285250-201285250	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1288C>T; p.R430*; 2:201285250-201285250	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1288C>T; p.R430*; 2:201285250-201285250	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1288C>T; p.R430*; 2:201285250-201285250	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Nonsense
c.1113_1114insT; p.I374fs*8; 2:201285075-201285076	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.401+1G>A; p.?; 2:201269606-201269606	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Unknown
c.408G>A; p.M136I; 2:201271522-201271522	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1337T>A; p.L446Q; 2:201285299-201285299	liver	carcinoma	Substitution - Missense
c.1274_1275insT; p.C426fs*30; 2:201285236-201285237	stomach	carcinoma; diffuse_adenocarcinoma	Insertion - Frameshift
c.1444C>T; p.Q482*; 2:201286547-201286547	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1444C>T; p.Q482*; 2:201286547-201286547	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1444C>T; p.Q482*; 2:201286547-201286547	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1444C>T; p.Q482*; 2:201286547-201286547	breast	carcinoma	Substitution - Nonsense
c.1444C>T; p.Q482*; 2:201286547-201286547	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Nonsense
c.1444C>T; p.Q482*; 2:201286547-201286547	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Nonsense
c.1444C>T; p.Q482*; 2:201286547-201286547	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.853+55_853+56insT; p.?; 2:201277023-201277024	stomach	carcinoma; intestinal_adenocarcinoma	Unknown
c.201C>A; p.F67L; 2:201266687-201266687	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.853+55_853+56insT; p.?; 2:201277023-201277024	stomach	carcinoma; diffuse_adenocarcinoma	Unknown
c.201C>A; p.F67L; 2:201266687-201266687	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.281G>A; p.G94D; 2:201266767-201266767	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.83A>G; p.D28G; 2:201266569-201266569	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.106G>T; p.E36*; 2:201266592-201266592	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.83A>G; p.D28G; 2:201266569-201266569	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.1191T>A; p.Y397*; 2:201285153-201285153	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.218A>C; p.D73A; 2:201266704-201266704	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.647-1delG; p.?; 2:201274888-201274888	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.31G>A; p.G11R; 2:201266517-201266517	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.31G>A; p.G11R; 2:201266517-201266517	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.986G>A; p.C329Y; 2:201284948-201284948	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.8T>G; p.F3C; 2:201266494-201266494	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.480C>T; p.I160I; 2:201271594-201271594	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.899C>T; p.P300L; 2:201284861-201284861	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.537G>C; p.E179D; 2:201272667-201272667	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.464T>C; p.L155P; 2:201271578-201271578	skin	malignant_melanoma	Substitution - Missense
c.464T>C; p.L155P; 2:201271578-201271578	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.282C>T; p.G94G; 2:201266768-201266768	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1088C>A; p.P363H; 2:201285050-201285050	prostate	carcinoma	Substitution - Missense
c.508-2A>G; p.?; 2:201272636-201272636	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Unknown
c.1278T>C; p.C426C; 2:201285240-201285240	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.508-2A>G; p.?; 2:201272636-201272636	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Unknown
c.1276_1277delTG; p.V427fs*28; 2:201285238-201285239	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.422C>G; p.S141*; 2:201271536-201271536	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1276_1277delTG; p.V427fs*28; 2:201285238-201285239	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.422C>G; p.S141*; 2:201271536-201271536	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1034G>A; p.G345E; 2:201284996-201284996	skin	malignant_melanoma	Substitution - Missense
c.1066C>T; p.Q356*; 2:201285028-201285028	breast	carcinoma	Substitution - Nonsense
c.1276_1277delTG; p.V427fs*28; 2:201285238-201285239	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.1276_1277delTG; p.V427fs*28; 2:201285238-201285239	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.1276_1277delTG; p.V427fs*28; 2:201285238-201285239	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.1276_1277delTG; p.V427fs*28; 2:201285238-201285239	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.1276_1277delTG; p.V427fs*28; 2:201285238-201285239	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.1276_1277delTG; p.V427fs*28; 2:201285238-201285239	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.1276_1277delTG; p.V427fs*28; 2:201285238-201285239	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.1276_1277delTG; p.V427fs*28; 2:201285238-201285239	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.1066C>T; p.Q356*; 2:201285028-201285028	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1276_1277delTG; p.V427fs*28; 2:201285238-201285239	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.1066C>T; p.Q356*; 2:201285028-201285028	breast	carcinoma	Substitution - Nonsense
c.203G>A; p.R68Q; 2:201266689-201266689	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.203G>A; p.R68Q; 2:201266689-201266689	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1A>G; p.?; 2:201266487-201266487	stomach	carcinoma; intestinal_adenocarcinoma	Unknown
c.1175C>G; p.S392*; 2:201285137-201285137	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.851C>T; p.A284V; 2:201276966-201276966	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.203G>A; p.R68Q; 2:201266689-201266689	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.203G>A; p.R68Q; 2:201266689-201266689	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1175C>G; p.S392*; 2:201285137-201285137	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.203G>A; p.R68Q; 2:201266689-201266689	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.735G>T; p.M245I; 2:201276850-201276850	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.735G>T; p.M245I; 2:201276850-201276850	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.410T>A; p.L137H; 2:201271524-201271524	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.283A>T; p.R95W; 2:201266769-201266769	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.13A>G; p.R5G; 2:201266499-201266499	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.7T>G; p.F3V; 2:201266493-201266493	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.587G>A; p.C196Y; 2:201272717-201272717	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1_2insT; p.?; 2:201266487-201266488	stomach	carcinoma; intestinal_adenocarcinoma	Unknown
c.249_251delGGA; p.E84del; 2:201266735-201266737	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Deletion - In frame
c.1186C>A; p.P396T; 2:201285148-201285148	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.1025G>A; p.G342D; 2:201284987-201284987	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.433A>C; p.S145R; 2:201271547-201271547	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1025G>A; p.G342D; 2:201284987-201284987	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.7T>C; p.F3L; 2:201266493-201266493	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.179C>T; p.S60F; 2:201266665-201266665	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.528_529delAG; p.E177fs*34; 2:201272658-201272659	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.122C>A; p.A41D; 2:201266608-201266608	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.584T>A; p.V195D; 2:201272714-201272714	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.608T>G; p.L203R; 2:201272738-201272738	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1478T>C; p.F493S; 2:201286581-201286581	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.52G>T; p.D18Y; 2:201266538-201266538	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.201C>T; p.F67F; 2:201266687-201266687	ovary	other; neoplasm	Substitution - coding silent
c.296C>T; p.S99F; 2:201266782-201266782	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.677C>T; p.S226L; 2:201274919-201274919	ovary	other; neoplasm	Substitution - Missense
c.296C>T; p.S99F; 2:201266782-201266782	skin	malignant_melanoma	Substitution - Missense
c.677C>T; p.S226L; 2:201274919-201274919	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.296C>T; p.S99F; 2:201266782-201266782	skin	malignant_melanoma	Substitution - Missense
c.265G>T; p.E89*; 2:201266751-201266751	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1080G>C; p.L360F; 2:201285042-201285042	breast	carcinoma; HER-positive_carcinoma	Substitution - Missense
c.929A>G; p.Y310C; 2:201284891-201284891	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.449G>A; p.R150K; 2:201271563-201271563	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.391C>T; p.L131L; 2:201269595-201269595	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.391C>T; p.L131L; 2:201269595-201269595	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.391C>T; p.L131L; 2:201269595-201269595	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.796G>T; p.E266*; 2:201276911-201276911	breast	carcinoma	Substitution - Nonsense
c.683C>G; p.S228C; 2:201274925-201274925	urinary_tract; bladder	carcinoma	Substitution - Missense
c.155G>T; p.R52I; 2:201266641-201266641	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1289G>A; p.R430Q; 2:201285251-201285251	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1114delT; p.F373fs*26; 2:201285076-201285076	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.155G>T; p.R52I; 2:201266641-201266641	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1114delT; p.F373fs*26; 2:201285076-201285076	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.453_455delTTT; p.F152delF; 2:201271567-201271569	large_intestine	carcinoma; adenocarcinoma	Deletion - In frame
c.1440G>C; p.M480I; 2:201286543-201286543	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1369C>A; p.L457I; 2:201286472-201286472	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.577_578delAA; p.R194fs*17; 2:201272707-201272708	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.443A>T; p.E148V; 2:201271557-201271557	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1221G>A; p.T407T; 2:201285183-201285183	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1049T>G; p.I350S; 2:201285011-201285011	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1149G>T; p.Q383H; 2:201285111-201285111	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.305G>T; p.R102M; 2:201266791-201266791	pancreas	carcinoma	Substitution - Missense
c.305G>T; p.R102M; 2:201266791-201266791	stomach	carcinoma; adenocarcinoma	Substitution - Missense

Mutation summary in protein domains

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

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Loss of Function mutations compare to missense mutations

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The copy number variations for various cancers

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COSMIC somatic mutation [Top]