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	1277
Symbol	COL1A1
Synonymous	EDSC\|OI1\|OI2\|OI3\|OI4
Full name	collagen, type I, alpha 1
Gene description	alpha-1 type I collagen\|collagen alpha 1 chain type I\|collagen alpha-1(I) chain\|collagen alpha-1(I) chain preproprotein\|collagen of skin, tendon and bone, alpha-1 chain\|pro-alpha-1 collagen type 1
Cytoband	17q21.33
Gene type	protein-coding
Synonymous	MIM:120150; HGNC:HGNC:2197; Ensembl:ENSG00000108821; HPRD:00362; Vega:OTTHUMG00000148674

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1148G>A; p.G383D; 17:50195574-50195574	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2107C>A; p.P703T; 17:50191808-50191808	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4247C>T; p.T1416M; 17:50185779-50185779	liver	carcinoma	Substitution - Missense
c.4247C>T; p.T1416M; 17:50185779-50185779	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.4247C>T; p.T1416M; 17:50185779-50185779	liver	carcinoma	Substitution - Missense
c.611C>T; p.P204L; 17:50197980-50197980	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3421C>T; p.R1141*; 17:50187486-50187486	large_intestine; colon	carcinoma	Substitution - Nonsense
c.611C>T; p.P204L; 17:50197980-50197980	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2004C>T; p.G668G; 17:50192004-50192004	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.659G>T; p.R220L; 17:50197769-50197769	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3460G>C; p.G1154R; 17:50187086-50187086	breast	carcinoma	Substitution - Missense
c.2631T>A; p.P877P; 17:50189715-50189715	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1492G>A; p.A498T; 17:50194596-50194596	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.85G>A; p.E29K; 17:50201429-50201429	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2858G>A; p.G953D; 17:50189247-50189247	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1284T>G; p.G428G; 17:50195247-50195247	pancreas	carcinoma	Substitution - coding silent
c.730C>T; p.R244C; 17:50197200-50197200	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3074G>A; p.G1025E; 17:50188767-50188767	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3074G>A; p.G1025E; 17:50188767-50188767	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3630C>T; p.H1210H; 17:50186824-50186824	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2829+2T>C; p.?; 17:50189375-50189375	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.145G>C; p.D49H; 17:50199906-50199906	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3077G>A; p.R1026Q; 17:50188764-50188764	skin	malignant_melanoma	Substitution - Missense
c.3277delC; p.R1093fs*15; 17:50187968-50187968	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2729G>A; p.R910H; 17:50189477-50189477	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3704T>C; p.L1235P; 17:50186750-50186750	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3092G>A; p.G1031D; 17:50188749-50188749	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4244G>T; p.C1415F; 17:50185782-50185782	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3487G>C; p.G1163R; 17:50187059-50187059	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.3571_3572CC>TA; p.P1191Y; 17:50186882-50186883	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2390G>A; p.G797D; 17:50190550-50190550	breast	carcinoma	Substitution - Missense
c.3359delC; p.P1120fs*119; 17:50187886-50187886	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2610C>T; p.P870P; 17:50189862-50189862	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2027G>T; p.R676I; 17:50191981-50191981	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4201G>A; p.E1401K; 17:50185825-50185825	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2362G>A; p.G788S; 17:50190578-50190578	breast	carcinoma	Substitution - Missense
c.1459C>T; p.R487C; 17:50194723-50194723	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3008delC; p.P1003fs*105; 17:50188940-50188940	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1010C>T; p.T337I; 17:50195969-50195969	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2611C>T; p.P871S; 17:50189861-50189861	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2183G>A; p.G728E; 17:50191435-50191435	skin	malignant_melanoma	Substitution - Missense
c.2183G>A; p.G728E; 17:50191435-50191435	skin	malignant_melanoma	Substitution - Missense
c.1886G>A; p.G629D; 17:50192683-50192683	breast	carcinoma; lobular_carcinoma	Substitution - Missense
c.3580G>A; p.A1194T; 17:50186874-50186874	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; essential_thrombocythaemia	Substitution - Missense
c.1130G>A; p.G377D; 17:50195592-50195592	ovary	carcinoma	Substitution - Missense
c.1707C>G; p.G569G; 17:50194003-50194003	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.813T>A; p.S271R; 17:50196662-50196662	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1937C>T; p.P646L; 17:50192521-50192521	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4332C>T; p.P1444P; 17:50185565-50185565	skin	malignant_melanoma	Substitution - coding silent
c.2773C>T; p.P925S; 17:50189433-50189433	skin	malignant_melanoma	Substitution - Missense
c.2883C>T; p.V961V; 17:50189222-50189222	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2883C>T; p.V961V; 17:50189222-50189222	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2808C>T; p.S936S; 17:50189398-50189398	skin	malignant_melanoma	Substitution - coding silent
c.2736G>A; p.E912E; 17:50189470-50189470	skin	malignant_melanoma	Substitution - coding silent
c.2890C>T; p.P964S; 17:50189215-50189215	skin	malignant_melanoma	Substitution - Missense
c.2361C>T; p.S787S; 17:50190579-50190579	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2666C>T; p.S889F; 17:50189680-50189680	skin	malignant_melanoma	Substitution - Missense
c.2482G>A; p.E828K; 17:50190078-50190078	skin	malignant_melanoma	Substitution - Missense
c.1582C>T; p.R528C; 17:50194381-50194381	skin	malignant_melanoma	Substitution - Missense
c.2785G>A; p.G929S; 17:50189421-50189421	skin	malignant_melanoma	Substitution - Missense
c.2482G>A; p.E828K; 17:50190078-50190078	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3423+1G>A; p.?; 17:50187483-50187483	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1400G>T; p.G467V; 17:50194782-50194782	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1793G>A; p.R598Q; 17:50193022-50193022	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.737C>T; p.P246L; 17:50197193-50197193	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3816A>G; p.G1272G; 17:50186506-50186506	skin	malignant_melanoma	Substitution - coding silent
c.3779G>A; p.R1260H; 17:50186675-50186675	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2668-9C>T; p.?; 17:50189547-50189547	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Unknown
c.3682G>T; p.D1228Y; 17:50186772-50186772	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3682G>T; p.D1228Y; 17:50186772-50186772	stomach	adenocarcinoma	Substitution - Missense
c.3429C>T; p.P1143P; 17:50187117-50187117	bone; femur	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.3589G>A; p.D1197N; 17:50186865-50186865	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.472-1G>T; p.?; 17:50198505-50198505	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1135G>T; p.A379S; 17:50195587-50195587	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3589G>A; p.D1197N; 17:50186865-50186865	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3589G>A; p.D1197N; 17:50186865-50186865	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2050G>A; p.E684K; 17:50191865-50191865	skin	malignant_melanoma	Substitution - Missense
c.4379C>T; p.P1460L; 17:50185518-50185518	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2298T>C; p.T766T; 17:50190862-50190862	thyroid	other; neoplasm	Substitution - coding silent
c.1821+1G>A; p.?; 17:50192993-50192993	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2771C>T; p.P924L; 17:50189435-50189435	skin; leg	malignant_melanoma	Substitution - Missense
c.2771C>T; p.P924L; 17:50189435-50189435	skin; leg	malignant_melanoma	Substitution - Missense
c.2848G>C; p.G950R; 17:50189257-50189257	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.1538C>T; p.S513F; 17:50194425-50194425	skin	malignant_melanoma	Substitution - Missense
c.3196C>T; p.R1066C; 17:50188541-50188541	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.864G>T; p.E288D; 17:50196523-50196523	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3542G>A; p.G1181D; 17:50186912-50186912	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1776C>T; p.P592P; 17:50193039-50193039	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1538C>T; p.S513F; 17:50194425-50194425	skin	malignant_melanoma	Substitution - Missense
c.2386C>T; p.R796C; 17:50190554-50190554	skin	malignant_melanoma	Substitution - Missense
c.2916C>T; p.F972F; 17:50189189-50189189	skin	malignant_melanoma	Substitution - coding silent
c.1809C>T; p.P603P; 17:50193006-50193006	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2216delC; p.P739fs*27; 17:50191402-50191402	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.4183G>A; p.E1395K; 17:50185843-50185843	skin	malignant_melanoma	Substitution - Missense
c.2410G>A; p.E804K; 17:50190368-50190368	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3043G>T; p.E1015*; 17:50188905-50188905	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.1330G>C; p.D444H; 17:50195070-50195070	skin	malignant_melanoma	Substitution - Missense
c.3525T>G; p.G1175G; 17:50187021-50187021	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4161C>T; p.A1387A; 17:50185865-50185865	prostate	carcinoma	Substitution - coding silent
c.2012G>A; p.G671D; 17:50191996-50191996	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2450C>T; p.P817L; 17:50190328-50190328	skin	malignant_melanoma	Substitution - Missense
c.783C>T; p.L261L; 17:50197031-50197031	skin	malignant_melanoma	Substitution - coding silent
c.2450C>T; p.P817L; 17:50190328-50190328	skin	malignant_melanoma	Substitution - Missense
c.3926A>G; p.Q1309R; 17:50186396-50186396	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1988T>G; p.V663G; 17:50192020-50192020	ovary	other; neoplasm	Substitution - Missense
c.1930G>T; p.G644C; 17:50192528-50192528	liver	carcinoma	Substitution - Missense
c.284G>A; p.C95Y; 17:50199767-50199767	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1930G>T; p.G644C; 17:50192528-50192528	liver	carcinoma	Substitution - Missense
c.3329_3355del27; p.H1110_G1118delHRGFSGLQG; 17:50187890-50187916	breast	carcinoma	Deletion - In frame
c.4389C>T; p.F1463F; 17:50185508-50185508	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1121G>C; p.G374A; 17:50195601-50195601	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4162C>T; p.L1388L; 17:50185864-50185864	oesophagus	carcinoma	Substitution - coding silent
c.4369G>A; p.D1457N; 17:50185528-50185528	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.1667delC; p.P556fs*24; 17:50194131-50194131	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2802A>G; p.K934K; 17:50189404-50189404	skin	malignant_melanoma	Substitution - coding silent
c.3554C>T; p.P1185L; 17:50186900-50186900	skin	malignant_melanoma	Substitution - Missense
c.668C>G; p.P223R; 17:50197760-50197760	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3648C>G; p.Y1216*; 17:50186806-50186806	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1108C>T; p.R370C; 17:50195614-50195614	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3047G>A; p.G1016E; 17:50188794-50188794	skin	malignant_melanoma	Substitution - Missense
c.3682G>A; p.D1228N; 17:50186772-50186772	skin	malignant_melanoma	Substitution - Missense
c.2349A>C; p.E783D; 17:50190591-50190591	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.3994G>A; p.D1332N; 17:50186328-50186328	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2349A>C; p.E783D; 17:50190591-50190591	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.4024G>T; p.G1342C; 17:50186002-50186002	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2049C>T; p.G683G; 17:50191866-50191866	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1322G>A; p.S441N; 17:50195078-50195078	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.3503G>A; p.R1168H; 17:50187043-50187043	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2049C>T; p.G683G; 17:50191866-50191866	liver	carcinoma	Substitution - coding silent
c.1691G>A; p.R564H; 17:50194019-50194019	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1583G>A; p.R528H; 17:50194380-50194380	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2630C>T; p.P877L; 17:50189716-50189716	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3978C>T; p.F1326F; 17:50186344-50186344	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.588+6T>G; p.?; 17:50198155-50198155	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.3058G>A; p.A1020T; 17:50188783-50188783	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4376G>T; p.G1459V; 17:50185521-50185521	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3737G>A; p.R1246Q; 17:50186717-50186717	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1600C>T; p.L534L; 17:50194363-50194363	thyroid	carcinoma	Substitution - coding silent
c.2728C>T; p.R910C; 17:50189478-50189478	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1008_1025del18; p.T337_P342delTGPAGP; 17:50195954-50195971	ovary	carcinoma; serous_carcinoma	Deletion - In frame
c.2258C>T; p.A753V; 17:50190902-50190902	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2871G>A; p.Q957Q; 17:50189234-50189234	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2556C>T; p.P852P; 17:50190004-50190004	skin	malignant_melanoma	Substitution - coding silent
c.1983G>A; p.Q661Q; 17:50192475-50192475	skin	malignant_melanoma	Substitution - coding silent
c.3247G>A; p.A1083T; 17:50188110-50188110	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1567C>T; p.P523S; 17:50194396-50194396	skin	malignant_melanoma	Substitution - Missense
c.104-1G>A; p.?; 17:50199948-50199948	skin	malignant_melanoma	Unknown
c.2414C>T; p.P805L; 17:50190364-50190364	skin	malignant_melanoma	Substitution - Missense
c.1444G>A; p.G482R; 17:50194738-50194738	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2347G>A; p.E783K; 17:50190593-50190593	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1005T>G; p.G335G; 17:50195974-50195974	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.103+1G>A; p.?; 17:50201410-50201410	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.651G>T; p.M217I; 17:50197777-50197777	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2491G>A; p.D831N; 17:50190069-50190069	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2534G>A; p.G845E; 17:50190026-50190026	skin	malignant_melanoma	Substitution - Missense
c.3773C>A; p.T1258N; 17:50186681-50186681	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1645C>T; p.P549S; 17:50194153-50194153	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3380G>C; p.G1127A; 17:50187527-50187527	skin	malignant_melanoma	Substitution - Missense
c.3107G>A; p.R1036H; 17:50188630-50188630	pancreas	carcinoma	Substitution - Missense
c.4307G>A; p.R1436H; 17:50185590-50185590	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2783C>A; p.P928H; 17:50189423-50189423	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2435G>A; p.G812D; 17:50190343-50190343	skin	malignant_melanoma	Substitution - Missense
c.944C>T; p.A315V; 17:50196327-50196327	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1184G>T; p.G395V; 17:50195450-50195450	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3687C>T; p.L1229L; 17:50186767-50186767	central_nervous_system; brain	glioma	Substitution - coding silent
c.1069C>T; p.P357S; 17:50195653-50195653	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.4008C>T; p.F1336F; 17:50186018-50186018	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2283C>T; p.G761G; 17:50190877-50190877	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2283C>T; p.G761G; 17:50190877-50190877	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.774A>T; p.T258T; 17:50197040-50197040	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2283C>T; p.G761G; 17:50190877-50190877	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2283C>T; p.G761G; 17:50190877-50190877	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2051A>G; p.E684G; 17:50191864-50191864	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1300G>T; p.G434C; 17:50195100-50195100	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.859G>T; p.G287C; 17:50196528-50196528	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3631G>A; p.D1211N; 17:50186823-50186823	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1916C>T; p.S639F; 17:50192653-50192653	NS	malignant_melanoma	Substitution - Missense
c.1916C>T; p.S639F; 17:50192653-50192653	NS	malignant_melanoma	Substitution - Missense
c.4257C>A; p.T1419T; 17:50185640-50185640	breast	carcinoma	Substitution - coding silent
c.630G>A; p.E210E; 17:50197961-50197961	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1550C>T; p.A517V; 17:50194413-50194413	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1735G>A; p.V579M; 17:50193975-50193975	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.1735G>A; p.V579M; 17:50193975-50193975	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2590G>A; p.A864T; 17:50189882-50189882	breast	carcinoma	Substitution - Missense
c.519A>G; p.G173G; 17:50198457-50198457	liver	carcinoma	Substitution - coding silent
c.2910_2911delAG; p.G971fs*10; 17:50189194-50189195	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2910_2911delAG; p.G971fs*10; 17:50189194-50189195	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.519A>G; p.G173G; 17:50198457-50198457	liver	carcinoma	Substitution - coding silent
c.2818G>A; p.D940N; 17:50189388-50189388	breast	carcinoma	Substitution - Missense
c.539C>T; p.P180L; 17:50198437-50198437	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3339C>T; p.F1113F; 17:50187906-50187906	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2545C>T; p.P849S; 17:50190015-50190015	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1264G>A; p.G422S; 17:50195267-50195267	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3366_3367insC; p.G1124fs*5; 17:50187878-50187879	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Insertion - Frameshift
c.1383C>T; p.G461G; 17:50194799-50194799	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3648C>A; p.Y1216*; 17:50186806-50186806	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4328C>T; p.A1443V; 17:50185569-50185569	skin	malignant_melanoma	Substitution - Missense
c.2832T>C; p.G944G; 17:50189273-50189273	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.2481C>T; p.G827G; 17:50190079-50190079	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.993C>T; p.A331A; 17:50196164-50196164	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.670G>A; p.G224S; 17:50197758-50197758	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.512C>T; p.S171L; 17:50198464-50198464	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3591C>G; p.D1197E; 17:50186863-50186863	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2533G>A; p.G845R; 17:50190027-50190027	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3649C>T; p.R1217W; 17:50186805-50186805	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1765G>C; p.A589P; 17:50193945-50193945	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4362C>T; p.F1454F; 17:50185535-50185535	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.684G>T; p.K228N; 17:50197744-50197744	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3124G>A; p.A1042T; 17:50188613-50188613	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2283C>A; p.G761G; 17:50190877-50190877	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.3574C>T; p.P1192S; 17:50186880-50186880	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.673C>T; p.P225S; 17:50197755-50197755	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.600C>T; p.G200G; 17:50197991-50197991	skin	malignant_melanoma	Substitution - coding silent
c.1695C>T; p.P565P; 17:50194015-50194015	skin	malignant_melanoma	Substitution - coding silent
c.1695C>T; p.P565P; 17:50194015-50194015	skin	malignant_melanoma	Substitution - coding silent
c.2768G>A; p.G923D; 17:50189438-50189438	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3540delC; p.G1181fs*58; 17:50186914-50186914	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3540delC; p.G1181fs*58; 17:50186914-50186914	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.1705G>A; p.G569S; 17:50194005-50194005	skin	malignant_melanoma	Substitution - Missense
c.2554C>T; p.P852S; 17:50190006-50190006	skin	malignant_melanoma	Substitution - Missense
c.1865delC; p.P622fs*144; 17:50192807-50192807	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2539G>A; p.A847T; 17:50190021-50190021	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2636C>T; p.A879V; 17:50189710-50189710	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2615G>A; p.G872D; 17:50189731-50189731	NS	malignant_melanoma	Substitution - Missense
c.3169G>A; p.V1057I; 17:50188568-50188568	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2424delC; p.G809fs*299; 17:50190354-50190354	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4214G>A; p.R1405H; 17:50185812-50185812	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2424delC; p.G809fs*299; 17:50190354-50190354	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4145G>A; p.G1382D; 17:50185881-50185881	breast	carcinoma	Substitution - Missense
c.1251delC; p.S418fs*123; 17:50195280-50195280	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2716G>A; p.G906S; 17:50189490-50189490	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.145G>A; p.D49N; 17:50199906-50199906	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3345C>A; p.G1115G; 17:50187900-50187900	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3300C>T; p.G1100G; 17:50187945-50187945	liver	carcinoma	Substitution - coding silent
c.305C>A; p.P102H; 17:50199584-50199584	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.305C>A; p.P102H; 17:50199584-50199584	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1862C>T; p.P621L; 17:50192810-50192810	skin	malignant_melanoma	Substitution - Missense
c.3002G>A; p.G1001D; 17:50188946-50188946	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3777C>T; p.C1259C; 17:50186677-50186677	skin	malignant_melanoma	Substitution - coding silent
c.1918C>A; p.P640T; 17:50192651-50192651	breast	carcinoma	Substitution - Missense
c.1981C>A; p.Q661K; 17:50192477-50192477	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1410A>T; p.G470G; 17:50194772-50194772	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3050C>T; p.A1017V; 17:50188791-50188791	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2032G>A; p.E678K; 17:50191883-50191883	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1978G>A; p.E660K; 17:50192480-50192480	skin	malignant_melanoma	Substitution - Missense
c.649A>T; p.M217L; 17:50197779-50197779	pancreas	carcinoma	Substitution - Missense
c.2903_2904delGA; p.G971fs*10; 17:50189201-50189202	large_intestine; colon	carcinoma	Deletion - Frameshift
c.584C>T; p.A195V; 17:50198165-50198165	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1124C>T; p.P375L; 17:50195598-50195598	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4159delG; p.A1387fs*40; 17:50185867-50185867	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.2782C>T; p.P928S; 17:50189424-50189424	skin	malignant_melanoma	Substitution - Missense
c.285C>T; p.C95C; 17:50199766-50199766	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.1920C>T; p.P640P; 17:50192649-50192649	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1724G>A; p.G575D; 17:50193986-50193986	liver	carcinoma	Substitution - Missense
c.1724G>A; p.G575D; 17:50193986-50193986	liver	carcinoma	Substitution - Missense
c.1415G>A; p.R472Q; 17:50194767-50194767	skin	malignant_melanoma	Substitution - Missense
c.1414C>T; p.R472*; 17:50194768-50194768	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3068C>T; p.S1023F; 17:50188773-50188773	skin	malignant_melanoma	Substitution - Missense
c.1837G>A; p.D613N; 17:50192835-50192835	skin; upper_leg	malignant_melanoma	Substitution - Missense
c.4028C>T; p.S1343F; 17:50185998-50185998	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.934C>T; p.R312C; 17:50196337-50196337	NS	malignant_melanoma	Substitution - Missense
c.934C>T; p.R312C; 17:50196337-50196337	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.1815C>T; p.G605G; 17:50193000-50193000	central_nervous_system; brain	glioma	Substitution - coding silent
c.1815C>T; p.G605G; 17:50193000-50193000	breast	carcinoma; lobular_carcinoma	Substitution - coding silent
c.934C>T; p.R312C; 17:50196337-50196337	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.4069C>T; p.L1357L; 17:50185957-50185957	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3794G>A; p.C1265Y; 17:50186660-50186660	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2689C>T; p.P897S; 17:50189517-50189517	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3099+8G>T; p.?; 17:50188734-50188734	pancreas	carcinoma	Unknown
c.4248G>A; p.T1416T; 17:50185778-50185778	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4069C>T; p.L1357L; 17:50185957-50185957	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.2892T>C; p.P964P; 17:50189213-50189213	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.3099+8G>T; p.?; 17:50188734-50188734	pancreas	carcinoma	Unknown
c.659G>A; p.R220Q; 17:50197769-50197769	skin	malignant_melanoma	Substitution - Missense
c.2152C>T; p.P718S; 17:50191466-50191466	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1337G>C; p.G446A; 17:50195063-50195063	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3272G>A; p.G1091D; 17:50187973-50187973	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2109C>A; p.P703P; 17:50191806-50191806	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.507G>C; p.E169D; 17:50198469-50198469	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.3277C>T; p.R1093C; 17:50187968-50187968	prostate	adenoma	Substitution - Missense
c.842G>A; p.G281D; 17:50196633-50196633	skin	malignant_melanoma	Substitution - Missense
c.3814+3G>A; p.?; 17:50186637-50186637	pancreas	carcinoma	Unknown
c.3984G>A; p.E1328E; 17:50186338-50186338	skin	malignant_melanoma	Substitution - coding silent
c.697-1G>A; p.?; 17:50197234-50197234	breast	carcinoma	Unknown
c.3940A>G; p.I1314V; 17:50186382-50186382	urinary_tract; bladder	carcinoma	Substitution - Missense
c.731G>A; p.R244H; 17:50197199-50197199	pancreas	carcinoid-endocrine_tumour; islet_cell	Substitution - Missense
c.731G>A; p.R244H; 17:50197199-50197199	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.731G>A; p.R244H; 17:50197199-50197199	pancreas	carcinoma	Substitution - Missense
c.1009A>T; p.T337S; 17:50195970-50195970	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.731G>A; p.R244H; 17:50197199-50197199	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2013C>A; p.G671G; 17:50191995-50191995	liver	carcinoma	Substitution - coding silent
c.2320C>A; p.P774T; 17:50190840-50190840	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.2880G>A; p.V960V; 17:50189225-50189225	breast	carcinoma	Substitution - coding silent
c.2013C>A; p.G671G; 17:50191995-50191995	liver	carcinoma	Substitution - coding silent
c.3353G>A; p.G1118D; 17:50187892-50187892	skin	malignant_melanoma	Substitution - Missense
c.4256C>T; p.T1419I; 17:50185641-50185641	skin	malignant_melanoma	Substitution - Missense
c.1512C>A; p.P504P; 17:50194576-50194576	oesophagus	carcinoma	Substitution - coding silent
c.1018G>A; p.A340T; 17:50195961-50195961	breast	carcinoma	Substitution - Missense
c.2820T>C; p.D940D; 17:50189386-50189386	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2596G>A; p.G866S; 17:50189876-50189876	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2486C>T; p.P829L; 17:50190074-50190074	skin	malignant_melanoma	Substitution - Missense
c.4183G>T; p.E1395*; 17:50185843-50185843	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3465C>T; p.L1155L; 17:50187081-50187081	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2419C>T; p.P807S; 17:50190359-50190359	skin	malignant_melanoma	Substitution - Missense
c.3535C>T; p.P1179S; 17:50186919-50186919	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1676C>T; p.A559V; 17:50194034-50194034	skin	malignant_melanoma	Substitution - Missense
c.3897C>T; p.C1299C; 17:50186425-50186425	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4150C>G; p.L1384V; 17:50185876-50185876	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2932C>T; p.P978S; 17:50189173-50189173	skin	malignant_melanoma	Substitution - Missense
c.1641T>C; p.P547P; 17:50194157-50194157	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.949G>A; p.G317S; 17:50196322-50196322	ovary	other; neoplasm	Substitution - Missense
c.229G>A; p.E77K; 17:50199822-50199822	skin	malignant_melanoma	Substitution - Missense
c.700G>A; p.E234K; 17:50197230-50197230	skin	malignant_melanoma	Substitution - Missense
c.1767+4A>T; p.?; 17:50193939-50193939	liver	carcinoma	Unknown
c.1767+4A>T; p.?; 17:50193939-50193939	liver	carcinoma	Unknown
c.3673C>T; p.R1225C; 17:50186781-50186781	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3088C>T; p.P1030S; 17:50188753-50188753	skin	malignant_melanoma	Substitution - Missense
c.1101G>C; p.Q367H; 17:50195621-50195621	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1303G>A; p.E435K; 17:50195097-50195097	skin	malignant_melanoma	Substitution - Missense
c.2153C>T; p.P718L; 17:50191465-50191465	skin	malignant_melanoma	Substitution - Missense
c.551C>G; p.S184C; 17:50198198-50198198	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2294T>C; p.L765P; 17:50190866-50190866	skin	malignant_melanoma	Substitution - Missense
c.658C>T; p.R220*; 17:50197770-50197770	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.658C>T; p.R220*; 17:50197770-50197770	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.3025C>T; p.P1009S; 17:50188923-50188923	skin	malignant_melanoma	Substitution - Missense
c.1675G>A; p.A559T; 17:50194035-50194035	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.964C>T; p.R322C; 17:50196193-50196193	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4291A>G; p.T1431A; 17:50185606-50185606	skin	malignant_melanoma	Substitution - Missense
c.1096C>T; p.P366S; 17:50195626-50195626	skin	malignant_melanoma	Substitution - Missense
c.4135C>T; p.Q1379*; 17:50185891-50185891	skin	malignant_melanoma	Substitution - Nonsense
c.4070T>C; p.L1357P; 17:50185956-50185956	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.4135C>T; p.Q1379*; 17:50185891-50185891	skin	malignant_melanoma	Substitution - Nonsense
c.1443_1444insTA; p.G482fs*1; 17:50194738-50194739	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation