lung cancer gene and literature database Home

Annotation category 5

Basic annotation
Ontology and pathways
Literature evidence
Curated literatures
Expression
Gene expression chart
Somatic mutation
COSMIC and TCGA mutations
Network
Gene interaction
ceRNA
Gene-related ceRNA

Gene information

Gene ID	841
Symbol	CASP8
Synonymous	ALPS2B\|CAP4\|Casp-8\|FLICE\|MACH\|MCH5
Full name	caspase 8, apoptosis-related cysteine peptidase
Gene description	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
Cytoband	2q33-q34
Gene type	protein-coding
Synonymous	MIM:601763; HGNC:HGNC:1509; Ensembl:ENSG00000064012; HPRD:03459; Vega:OTTHUMG00000132821

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
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

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation