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	2074
Symbol	ERCC6
Synonymous	ARMD5\|CKN2\|COFS\|COFS1\|CSB\|RAD26\|UVSS1
Full name	excision repair cross-complementation group 6
Gene description	ATP-dependent helicase ERCC6\|Cockayne syndrome group B protein\|DNA excision repair protein ERCC-6\|cockayne syndrome protein CSB\|excision repair cross-complementing rodent repair deficiency, complementation group 6
Cytoband	10q11.23
Gene type	protein-coding
Synonymous	MIM:609413; HGNC:HGNC:3438; Ensembl:ENSG00000225830; HPRD:00596; Vega:OTTHUMG00000018195

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.2123C>T; p.S708F; 10:49482733-49482733	skin	malignant_melanoma	Substitution - Missense
c.4228G>A; p.G1410R; 10:49459069-49459069	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3481A>C; p.S1161R; 10:49470479-49470479	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4431T>C; p.H1477H; 10:49458866-49458866	stomach	adenocarcinoma	Substitution - coding silent
c.2636A>C; p.K879T; 10:49473550-49473550	pancreas	carcinoma	Substitution - Missense
c.2636A>C; p.K879T; 10:49473550-49473550	pancreas	carcinoma	Substitution - Missense
c.4450G>A; p.G1484R; 10:49458847-49458847	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3863G>A; p.R1288Q; 10:49461472-49461472	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1281C>T; p.F427F; 10:49524149-49524149	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1281C>T; p.F427F; 10:49524149-49524149	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3689G>C; p.R1230P; 10:49470271-49470271	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3689G>C; p.R1230P; 10:49470271-49470271	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.197C>T; p.P66L; 10:49532768-49532768	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2859G>C; p.Q953H; 10:49472441-49472441	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1248A>C; p.K416N; 10:49524182-49524182	ovary	other; neoplasm	Substitution - Missense
c.429T>G; p.C143W; 10:49530834-49530834	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1340G>A; p.R447Q; 10:49524090-49524090	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1987A>G; p.K663E; 10:49483351-49483351	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3042G>T; p.Q1014H; 10:49471003-49471003	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.978G>T; p.E326D; 10:49524452-49524452	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1245G>A; p.K415K; 10:49524185-49524185	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1245G>A; p.K415K; 10:49524185-49524185	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.631G>A; p.A211T; 10:49528438-49528438	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2203C>T; p.R735*; 10:49478437-49478437	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.745G>A; p.G249S; 10:49524685-49524685	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1282C>T; p.P428S; 10:49524148-49524148	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2060C>G; p.S687W; 10:49482796-49482796	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4461A>G; p.K1487K; 10:49458836-49458836	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1226A>T; p.K409M; 10:49524204-49524204	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1483G>A; p.E495K; 10:49505927-49505927	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4062G>T; p.Q1354H; 10:49460373-49460373	breast	carcinoma	Substitution - Missense
c.3805G>A; p.D1269N; 10:49461530-49461530	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3023C>T; p.T1008I; 10:49471022-49471022	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2833C>T; p.R945W; 10:49472467-49472467	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2467C>A; p.P823T; 10:49474158-49474158	breast	carcinoma	Substitution - Missense
c.3629A>C; p.K1210T; 10:49470331-49470331	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.527G>A; p.R176Q; 10:49530736-49530736	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2705A>T; p.N902I; 10:49473481-49473481	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4333G>T; p.A1445S; 10:49458964-49458964	kidney	carcinoma; renal_cell_carcinoma	Substitution - Missense
c.2968C>T; p.P990S; 10:49471077-49471077	skin	malignant_melanoma	Substitution - Missense
c.1669C>G; p.R557G; 10:49500554-49500554	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2925A>G; p.R975R; 10:49471120-49471120	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2925A>G; p.R975R; 10:49471120-49471120	lung	carcinoma	Substitution - coding silent
c.2925A>G; p.R975R; 10:49471120-49471120	lung	carcinoma	Substitution - coding silent
c.4122A>G; p.A1374A; 10:49459175-49459175	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.190G>A; p.A64T; 10:49532775-49532775	urinary_tract; bladder	carcinoma	Substitution - Missense
c.814G>A; p.E272K; 10:49524616-49524616	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.423-1G>T; p.?; 10:49530841-49530841	ovary	carcinoma; serous_carcinoma	Unknown
c.814G>A; p.E272K; 10:49524616-49524616	breast	carcinoma	Substitution - Missense
c.2944T>G; p.L982V; 10:49471101-49471101	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3003C>T; p.L1001L; 10:49471042-49471042	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3112A>G; p.R1038G; 10:49470848-49470848	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3112A>G; p.R1038G; 10:49470848-49470848	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.787A>G; p.I263V; 10:49524643-49524643	liver	carcinoma	Substitution - Missense
c.1834C>T; p.R612*; 10:49483504-49483504	skin	malignant_melanoma	Substitution - Nonsense
c.1449G>T; p.E483D; 10:49505961-49505961	prostate	adenoma	Substitution - Missense
c.3294T>C; p.S1098S; 10:49470666-49470666	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4034C>T; p.S1345L; 10:49460401-49460401	breast	carcinoma	Substitution - Missense
c.2360G>A; p.R787K; 10:49476237-49476237	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3053C>A; p.T1018K; 10:49470992-49470992	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.3862C>T; p.R1288*; 10:49461473-49461473	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2965G>T; p.D989Y; 10:49471080-49471080	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2327A>C; p.Y776S; 10:49476270-49476270	liver	carcinoma	Substitution - Missense
c.1570C>T; p.Q524*; 10:49500653-49500653	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1570C>T; p.Q524*; 10:49500653-49500653	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.2327A>C; p.Y776S; 10:49476270-49476270	liver	carcinoma	Substitution - Missense
c.1828C>T; p.L610L; 10:49483510-49483510	skin	malignant_melanoma	Substitution - coding silent
c.3637A>C; p.R1213R; 10:49470323-49470323	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.528A>G; p.R176R; 10:49530735-49530735	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.235C>T; p.Q79*; 10:49532730-49532730	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.4467G>A; p.K1489K; 10:49458830-49458830	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3954G>T; p.R1318S; 10:49461381-49461381	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2354T>A; p.V785D; 10:49476243-49476243	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1970C>T; p.A657V; 10:49483368-49483368	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1760C>T; p.T587M; 10:49493178-49493178	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2144_2145insG; p.Y716fs*44; 10:49482711-49482712	breast	carcinoma	Insertion - Frameshift
c.271G>C; p.E91Q; 10:49532694-49532694	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1862T>C; p.L621S; 10:49483476-49483476	skin	malignant_melanoma	Substitution - Missense
c.2645A>C; p.Y882S; 10:49473541-49473541	breast	carcinoma	Substitution - Missense
c.758C>G; p.P253R; 10:49524672-49524672	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.756C>T; p.I252I; 10:49524674-49524674	skin; upper_arm	malignant_melanoma	Substitution - coding silent
c.2138T>C; p.M713T; 10:49482718-49482718	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.956G>C; p.R319T; 10:49524474-49524474	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.732G>T; p.Q244H; 10:49524698-49524698	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.560delA; p.K187fs*18; 10:49528509-49528509	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3416C>T; p.S1139F; 10:49470544-49470544	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2316G>T; p.Q772H; 10:49476281-49476281	stomach	adenocarcinoma	Substitution - Missense
c.628C>T; p.H210Y; 10:49528441-49528441	skin	malignant_melanoma	Substitution - Missense
c.1119G>T; p.E373D; 10:49524311-49524311	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.401G>A; p.R134Q; 10:49532564-49532564	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.405G>A; p.S135S; 10:49532560-49532560	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1347G>A; p.V449V; 10:49524083-49524083	bone; femur	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2337C>T; p.F779F; 10:49476260-49476260	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4332G>T; p.Q1444H; 10:49458965-49458965	soft_tissue; blood_vessel	angiosarcoma	Substitution - Missense
c.1027C>T; p.Q343*; 10:49524403-49524403	liver	carcinoma	Substitution - Nonsense
c.2678C>A; p.S893*; 10:49473508-49473508	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1955G>A; p.R652Q; 10:49483383-49483383	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1955G>A; p.R652Q; 10:49483383-49483383	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.184G>A; p.A62T; 10:49532781-49532781	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3774A>C; p.K1258N; 10:49470186-49470186	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2338G>A; p.V780I; 10:49476259-49476259	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2019G>T; p.L673L; 10:49482837-49482837	breast	carcinoma	Substitution - coding silent
c.2338G>A; p.V780I; 10:49476259-49476259	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2338G>A; p.V780I; 10:49476259-49476259	oesophagus	carcinoma	Substitution - Missense
c.170C>T; p.S57F; 10:49532795-49532795	skin	malignant_melanoma	Substitution - Missense
c.2338G>A; p.V780I; 10:49476259-49476259	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2099T>C; p.L700S; 10:49482757-49482757	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1773G>A; p.P591P; 10:49493165-49493165	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1228G>A; p.G410S; 10:49524202-49524202	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1773G>A; p.P591P; 10:49493165-49493165	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4238A>G; p.Q1413R; 10:49459059-49459059	thyroid	other; neoplasm	Substitution - Missense
c.3158G>A; p.R1053H; 10:49470802-49470802	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4238A>G; p.Q1413R; 10:49459059-49459059	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.4238A>G; p.Q1413R; 10:49459059-49459059	breast	carcinoma	Substitution - Missense
c.727G>T; p.G243C; 10:49524703-49524703	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.341A>G; p.D114G; 10:49532624-49532624	prostate	carcinoma	Substitution - Missense
c.2838G>T; p.E946D; 10:49472462-49472462	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3433G>A; p.E1145K; 10:49470527-49470527	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2461G>T; p.G821C; 10:49474164-49474164	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3523G>A; p.E1175K; 10:49470437-49470437	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4211G>A; p.R1404H; 10:49459086-49459086	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; large_cell	Substitution - Missense
c.4211G>A; p.R1404H; 10:49459086-49459086	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1592G>C; p.G531A; 10:49500631-49500631	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3848A>G; p.E1283G; 10:49461487-49461487	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3113G>C; p.R1038T; 10:49470847-49470847	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.3113G>C; p.R1038T; 10:49470847-49470847	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.3113G>C; p.R1038T; 10:49470847-49470847	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.2834G>A; p.R945Q; 10:49472466-49472466	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3405A>G; p.T1135T; 10:49470555-49470555	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2552G>T; p.W851L; 10:49474073-49474073	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.720C>T; p.I240I; 10:49524710-49524710	breast	carcinoma	Substitution - coding silent
c.3615G>T; p.K1205N; 10:49470345-49470345	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2408G>T; p.R803I; 10:49474217-49474217	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.99A>T; p.Q33H; 10:49532866-49532866	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3868G>T; p.A1290S; 10:49461467-49461467	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1861T>C; p.L621L; 10:49483477-49483477	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2438C>T; p.S813F; 10:49474187-49474187	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1772C>A; p.P591Q; 10:49493166-49493166	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2030C>T; p.P677L; 10:49482826-49482826	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.364C>T; p.R122C; 10:49532601-49532601	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.3355_3356GA>CT; p.E1119L; 10:49470604-49470605	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.3355_3356GA>CT; p.E1119L; 10:49470604-49470605	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.3482G>C; p.S1161T; 10:49470478-49470478	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3915G>A; p.L1305L; 10:49461420-49461420	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2008C>G; p.R670G; 10:49482848-49482848	liver	carcinoma	Substitution - Missense
c.4041A>T; p.T1347T; 10:49460394-49460394	oesophagus	carcinoma	Substitution - coding silent
c.4267G>T; p.E1423*; 10:49459030-49459030	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.915A>T; p.P305P; 10:49524515-49524515	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1742G>A; p.W581*; 10:49493196-49493196	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.2505G>A; p.W835*; 10:49474120-49474120	skin	malignant_melanoma	Substitution - Nonsense
c.4384C>T; p.Q1462*; 10:49458913-49458913	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2198T>C; p.V733A; 10:49478442-49478442	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3662G>A; p.R1221Q; 10:49470298-49470298	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4143C>T; p.S1381S; 10:49459154-49459154	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.4098C>T; p.V1366V; 10:49459199-49459199	skin	malignant_melanoma	Substitution - coding silent
c.3356A>G; p.E1119G; 10:49470604-49470604	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.896C>T; p.P299L; 10:49524534-49524534	kidney	other; neoplasm	Substitution - Missense
c.3356A>G; p.E1119G; 10:49470604-49470604	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3356A>G; p.E1119G; 10:49470604-49470604	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2388C>T; p.F796F; 10:49474237-49474237	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.4139C>T; p.S1380L; 10:49459158-49459158	breast	carcinoma	Substitution - Missense
c.1360G>T; p.D454Y; 10:49524070-49524070	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2382G>T; p.Q794H; 10:49476215-49476215	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1647G>C; p.L549L; 10:49500576-49500576	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1367G>A; p.G456E; 10:49524063-49524063	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2208T>C; p.D736D; 10:49478432-49478432	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2890A>G; p.T964A; 10:49472410-49472410	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3842T>C; p.L1281P; 10:49461493-49461493	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4210C>T; p.R1404C; 10:49459087-49459087	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1533G>A; p.Q511Q; 10:49500690-49500690	liver	carcinoma	Substitution - coding silent
c.2345C>T; p.S782F; 10:49476252-49476252	skin	malignant_melanoma	Substitution - Missense
c.3001C>A; p.L1001I; 10:49471044-49471044	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4203G>A; p.L1401L; 10:49459094-49459094	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2219C>T; p.P740L; 10:49478421-49478421	skin	malignant_melanoma	Substitution - Missense
c.1696T>C; p.L566L; 10:49493242-49493242	skin	malignant_melanoma	Substitution - coding silent
c.916G>A; p.A306T; 10:49524514-49524514	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3461C>T; p.S1154F; 10:49470499-49470499	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2606A>G; p.D869G; 10:49473580-49473580	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1158C>T; p.D386D; 10:49524272-49524272	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2574A>G; p.V858V; 10:49474051-49474051	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.789C>T; p.I263I; 10:49524641-49524641	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1202A>G; p.D401G; 10:49524228-49524228	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3493_3494AC>TT; p.T1165L; 10:49470466-49470467	skin	malignant_melanoma	Substitution - Missense
c.789C>T; p.I263I; 10:49524641-49524641	skin	malignant_melanoma	Substitution - coding silent
c.2421C>T; p.N807N; 10:49474204-49474204	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2622C>T; p.F874F; 10:49473564-49473564	skin	malignant_melanoma	Substitution - coding silent
c.3007G>C; p.E1003Q; 10:49471038-49471038	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3260G>A; p.R1087Q; 10:49470700-49470700	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3510G>A; p.E1170E; 10:49470450-49470450	breast	carcinoma	Substitution - coding silent
c.21C>T; p.P7P; 10:49532944-49532944	skin	malignant_melanoma	Substitution - coding silent
c.40G>A; p.E14K; 10:49532925-49532925	skin	malignant_melanoma	Substitution - Missense
c.625G>C; p.D209H; 10:49528444-49528444	breast	carcinoma	Substitution - Missense
c.1596T>C; p.D532D; 10:49500627-49500627	pancreas	carcinoma	Substitution - coding silent
c.2856C>T; p.G952G; 10:49472444-49472444	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4075A>G; p.K1359E; 10:49459222-49459222	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4313A>G; p.Q1438R; 10:49458984-49458984	central_nervous_system; brain	glioma	Substitution - Missense
c.919C>G; p.P307A; 10:49524511-49524511	breast	carcinoma	Substitution - Missense
c.4121C>T; p.A1374V; 10:49459176-49459176	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.4075A>G; p.K1359E; 10:49459222-49459222	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2751C>T; p.G917G; 10:49472987-49472987	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2751C>T; p.G917G; 10:49472987-49472987	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2751C>T; p.G917G; 10:49472987-49472987	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2751C>T; p.G917G; 10:49472987-49472987	pancreas	carcinoma	Substitution - coding silent
c.3277G>T; p.D1093Y; 10:49470683-49470683	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2932T>A; p.F978I; 10:49471113-49471113	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2300G>A; p.R767H; 10:49476297-49476297	breast	carcinoma	Substitution - Missense
c.1954C>T; p.R652*; 10:49483384-49483384	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.437C>T; p.S146F; 10:49530826-49530826	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2125G>A; p.V709I; 10:49482731-49482731	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4193A>C; p.H1398P; 10:49459104-49459104	breast	carcinoma	Substitution - Missense
c.2008C>T; p.R670W; 10:49482848-49482848	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1345G>A; p.V449M; 10:49524085-49524085	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2649C>G; p.L883L; 10:49473537-49473537	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2139G>A; p.M713I; 10:49482717-49482717	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.968A>G; p.K323R; 10:49524462-49524462	thyroid	carcinoma	Substitution - Missense
c.1670G>A; p.R557H; 10:49500553-49500553	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.980G>A; p.R327H; 10:49524450-49524450	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3400G>A; p.G1134R; 10:49470560-49470560	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2547A>C; p.K849N; 10:49474078-49474078	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2783G>C; p.R928T; 10:49472955-49472955	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2551T>G; p.W851G; 10:49474074-49474074	thyroid	other; neoplasm	Substitution - Missense
c.2460A>C; p.K820N; 10:49474165-49474165	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.247G>A; p.V83I; 10:49532718-49532718	breast	carcinoma	Substitution - Missense
c.771G>T; p.E257D; 10:49524659-49524659	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2089T>C; p.L697L; 10:49482767-49482767	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.557A>G; p.K186R; 10:49528512-49528512	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4005G>T; p.R1335S; 10:49460430-49460430	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2204G>A; p.R735Q; 10:49478436-49478436	pancreas	carcinoma	Substitution - Missense
c.2204G>A; p.R735Q; 10:49478436-49478436	skin	malignant_melanoma	Substitution - Missense
c.2204G>A; p.R735Q; 10:49478436-49478436	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.3437G>C; p.S1146T; 10:49470523-49470523	breast	carcinoma	Substitution - Missense
c.3113G>A; p.R1038K; 10:49470847-49470847	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1991A>T; p.Q664L; 10:49483347-49483347	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1771_1772CC>TT; p.P591L; 10:49493166-49493167	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4010C>A; p.S1337Y; 10:49460425-49460425	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1801G>A; p.G601S; 10:49493137-49493137	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.856A>T; p.K286*; 10:49524574-49524574	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4186A>G; p.R1396G; 10:49459111-49459111	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1996C>T; p.R666C; 10:49482860-49482860	skin	malignant_melanoma	Substitution - Missense
c.379G>A; p.V127I; 10:49532586-49532586	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4309T>A; p.F1437I; 10:49458988-49458988	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3844G>A; p.V1282M; 10:49461491-49461491	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.630C>T; p.H210H; 10:49528439-49528439	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.880G>A; p.A294T; 10:49524550-49524550	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2776delG; p.A926fs*26; 10:49472962-49472962	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2686C>T; p.P896S; 10:49473500-49473500	breast	carcinoma	Substitution - Missense
c.4328G>A; p.G1443D; 10:49458969-49458969	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2124C>T; p.S708S; 10:49482732-49482732	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3164A>C; p.K1055T; 10:49470796-49470796	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2091A>T; p.L697F; 10:49482765-49482765	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2145_2146insG; p.Y716fs*44; 10:49482710-49482711	stomach	carcinoma; intestinal_adenocarcinoma	Insertion - Frameshift
c.3082G>A; p.D1028N; 10:49470878-49470878	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2145_2146insG; p.Y716fs*44; 10:49482710-49482711	stomach	adenocarcinoma	Insertion - Frameshift
c.295G>T; p.V99F; 10:49532670-49532670	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3121C>T; p.Q1041*; 10:49470839-49470839	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1548G>T; p.R516S; 10:49500675-49500675	skin	malignant_melanoma	Substitution - Missense
c.907A>G; p.T303A; 10:49524523-49524523	skin	malignant_melanoma	Substitution - Missense
c.1408A>G; p.K470E; 10:49506002-49506002	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.4372T>C; p.L1458L; 10:49458925-49458925	skin	malignant_melanoma	Substitution - coding silent
c.1789C>T; p.L597L; 10:49493149-49493149	skin	malignant_melanoma	Substitution - coding silent
c.1610G>A; p.G537D; 10:49500613-49500613	breast	carcinoma	Substitution - Missense
c.2935A>G; p.K979E; 10:49471110-49471110	breast	carcinoma	Substitution - Missense
c.124G>T; p.E42*; 10:49532841-49532841	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2001C>T; p.T667T; 10:49482855-49482855	skin	malignant_melanoma	Substitution - coding silent
c.3742G>T; p.D1248Y; 10:49470218-49470218	breast	carcinoma	Substitution - Missense
c.2117A>T; p.Q706L; 10:49482739-49482739	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3356A>T; p.E1119V; 10:49470604-49470604	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.3877G>A; p.A1293T; 10:49461458-49461458	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1011G>A; p.K337K; 10:49524419-49524419	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2230C>T; p.R744W; 10:49478410-49478410	skin	malignant_melanoma	Substitution - Missense
c.2751C>G; p.G917G; 10:49472987-49472987	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.3157C>T; p.R1053C; 10:49470803-49470803	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3637A>G; p.R1213G; 10:49470323-49470323	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3289A>G; p.M1097V; 10:49470671-49470671	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1917C>T; p.D639D; 10:49483421-49483421	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2742G>A; p.T914T; 10:49472996-49472996	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3289A>G; p.M1097V; 10:49470671-49470671	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2925-2A>G; p.?; 10:49471122-49471122	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.3355G>T; p.E1119*; 10:49470605-49470605	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1771C>G; p.P591A; 10:49493167-49493167	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3168C>T; p.F1056F; 10:49470792-49470792	skin	malignant_melanoma	Substitution - coding silent
c.1822-1G>T; p.?; 10:49483517-49483517	lung; right_upper_lobe	carcinoma; adenocarcinoma	Unknown
c.1783G>T; p.A595S; 10:49493155-49493155	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1207G>A; p.E403K; 10:49524223-49524223	breast	carcinoma	Substitution - Missense
c.2744G>A; p.R915Q; 10:49472994-49472994	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1955G>T; p.R652L; 10:49483383-49483383	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.972A>G; p.K324K; 10:49524458-49524458	breast	carcinoma	Substitution - coding silent
c.2045T>G; p.L682R; 10:49482811-49482811	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2569C>T; p.R857*; 10:49474056-49474056	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2569C>T; p.R857*; 10:49474056-49474056	large_intestine; colon	carcinoma	Substitution - Nonsense
c.2569C>T; p.R857*; 10:49474056-49474056	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2546A>G; p.K849R; 10:49474079-49474079	thyroid	other; neoplasm	Substitution - Missense
c.3437G>T; p.S1146I; 10:49470523-49470523	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3355G>C; p.E1119Q; 10:49470605-49470605	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.1521T>A; p.L507L; 10:49505889-49505889	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.431C>T; p.T144M; 10:49530832-49530832	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2218C>T; p.P740S; 10:49478422-49478422	skin	malignant_melanoma	Substitution - Missense
c.871A>T; p.N291Y; 10:49524559-49524559	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4399C>T; p.R1467*; 10:49458898-49458898	prostate	carcinoma; adenocarcinoma	Substitution - Nonsense
c.378C>T; p.L126L; 10:49532587-49532587	lung	carcinoma; adenocarcinoma	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation