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	2191
Symbol	FAP
Synonymous	DPPIV\|FAPA\|SIMP
Full name	fibroblast activation protein, alpha
Gene description	170 kDa melanoma membrane-bound gelatinase\|FAPalpha\|dipeptidyl peptidase FAP\|gelatine degradation protease FAP\|integral membrane serine protease\|post-proline cleaving enzyme\|prolyl endopeptidase FAP\|seprase\|serine integral membrane protease\|surface-expres
Cytoband	2q23
Gene type	protein-coding
Synonymous	MIM:600403; HGNC:HGNC:3590; Ensembl:ENSG00000078098; HPRD:02674; Vega:OTTHUMG00000153890

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1324C>A; p.H442N; 2:162198835-162198835	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.738A>T; p.R246S; 2:162218010-162218010	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.904G>A; p.E302K; 2:162214036-162214036	pancreas	carcinoma	Substitution - Missense
c.158C>T; p.S53F; 2:162226555-162226555	prostate	carcinoma	Substitution - Missense
c.801C>T; p.I267I; 2:162215963-162215963	breast	carcinoma	Substitution - coding silent
c.801C>T; p.I267I; 2:162215963-162215963	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1603C>T; p.P535S; 2:162189119-162189119	skin	malignant_melanoma	Substitution - Missense
c.1216G>T; p.D406Y; 2:162202879-162202879	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.549A>G; p.I183M; 2:162219121-162219121	pancreas	carcinoma	Substitution - Missense
c.1183T>C; p.W395R; 2:162202912-162202912	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1127A>G; p.H376R; 2:162203066-162203066	skin	malignant_melanoma	Substitution - Missense
c.140T>A; p.I47N; 2:162226573-162226573	breast	carcinoma	Substitution - Missense
c.914G>T; p.C305F; 2:162214026-162214026	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.80G>A; p.R27H; 2:162242919-162242919	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.716A>G; p.Y239C; 2:162218032-162218032	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.617T>A; p.L206H; 2:162218131-162218131	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1435G>A; p.G479R; 2:162194716-162194716	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.80G>T; p.R27L; 2:162242919-162242919	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.80G>T; p.R27L; 2:162242919-162242919	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1483G>A; p.E495K; 2:162189722-162189722	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.485T>G; p.L162*; 2:162219854-162219854	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.614T>C; p.M205T; 2:162218134-162218134	large_intestine; colon	carcinoma	Substitution - Missense
c.614T>C; p.M205T; 2:162218134-162218134	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.956C>A; p.S319Y; 2:162213984-162213984	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.443G>A; p.R148H; 2:162219896-162219896	pancreas	carcinoma	Substitution - Missense
c.1088C>T; p.S363L; 2:162203105-162203105	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1088C>T; p.S363L; 2:162203105-162203105	skin	malignant_melanoma	Substitution - Missense
c.2011G>A; p.D671N; 2:162173746-162173746	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1114G>A; p.D372N; 2:162203079-162203079	skin	malignant_melanoma	Substitution - Missense
c.891G>A; p.T297T; 2:162214049-162214049	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.538C>A; p.P180T; 2:162219132-162219132	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.809C>G; p.T270S; 2:162215955-162215955	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.675A>C; p.E225D; 2:162218073-162218073	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.435G>T; p.E145D; 2:162219904-162219904	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1477G>A; p.E493K; 2:162189728-162189728	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1477G>A; p.E493K; 2:162189728-162189728	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.735T>C; p.P245P; 2:162218013-162218013	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1416C>A; p.P472P; 2:162194735-162194735	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.735T>C; p.P245P; 2:162218013-162218013	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.908G>T; p.R303L; 2:162214032-162214032	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.354T>C; p.Y118Y; 2:162224472-162224472	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1137T>C; p.Y379Y; 2:162203056-162203056	kidney	other; neoplasm	Substitution - coding silent
c.1734T>G; p.A578A; 2:162188249-162188249	skin	malignant_melanoma	Substitution - coding silent
c.1752C>T; p.L584L; 2:162188231-162188231	skin	malignant_melanoma	Substitution - coding silent
c.1138A>G; p.I380V; 2:162203055-162203055	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.609G>T; p.E203D; 2:162218139-162218139	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.309C>T; p.Y103Y; 2:162224517-162224517	endometrium	carcinoma; serous_carcinoma	Substitution - coding silent
c.309C>T; p.Y103Y; 2:162224517-162224517	prostate	carcinoma	Substitution - coding silent
c.1885G>A; p.V629I; 2:162174951-162174951	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.535C>T; p.P179S; 2:162219135-162219135	skin	malignant_melanoma	Substitution - Missense
c.1128T>C; p.H376H; 2:162203065-162203065	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.671C>T; p.A224V; 2:162218077-162218077	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.787C>G; p.R263G; 2:162215977-162215977	breast	carcinoma	Substitution - Missense
c.1002+2T>A; p.?; 2:162213936-162213936	lung	carcinoma; small_cell_carcinoma	Unknown
c.1662T>G; p.A554A; 2:162188321-162188321	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1910G>A; p.G637E; 2:162174926-162174926	liver	carcinoma	Substitution - Missense
c.1910G>A; p.G637E; 2:162174926-162174926	skin	malignant_melanoma	Substitution - Missense
c.46G>T; p.V16L; 2:162242953-162242953	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1910G>A; p.G637E; 2:162174926-162174926	liver	carcinoma	Substitution - Missense
c.1910G>A; p.G637E; 2:162174926-162174926	liver	carcinoma	Substitution - Missense
c.1095C>A; p.Y365*; 2:162203098-162203098	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1299T>A; p.P433P; 2:162198860-162198860	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.779C>T; p.P260L; 2:162215985-162215985	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.887T>A; p.L296H; 2:162214053-162214053	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2088C>A; p.L696L; 2:162173168-162173168	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.135G>T; p.K45N; 2:162226578-162226578	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1681C>T; p.L561F; 2:162188302-162188302	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.79C>T; p.R27C; 2:162242920-162242920	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1671G>T; p.W557C; 2:162188312-162188312	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1860A>G; p.I620M; 2:162183423-162183423	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1146C>A; p.D382E; 2:162203047-162203047	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1969+1G>A; p.?; 2:162174866-162174866	skin	malignant_melanoma	Unknown
c.1970C>T; p.A657V; 2:162173787-162173787	urinary_tract; bladder	carcinoma	Substitution - Missense
c.320C>T; p.P107L; 2:162224506-162224506	NS	malignant_melanoma	Substitution - Missense
c.1671G>A; p.W557*; 2:162188312-162188312	breast	carcinoma	Substitution - Nonsense
c.1671G>A; p.W557*; 2:162188312-162188312	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Nonsense
c.819G>A; p.A273A; 2:162215945-162215945	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.819G>A; p.A273A; 2:162215945-162215945	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1368C>T; p.S456S; 2:162198791-162198791	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1368C>T; p.S456S; 2:162198791-162198791	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1040C>A; p.A347D; 2:162209959-162209959	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.901G>A; p.D301N; 2:162214039-162214039	breast	carcinoma	Substitution - Missense
c.536C>T; p.P179L; 2:162219134-162219134	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1815-1G>A; p.?; 2:162183469-162183469	skin	malignant_melanoma	Unknown
c.70A>G; p.I24V; 2:162242929-162242929	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.2044G>C; p.V682L; 2:162173212-162173212	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1436G>A; p.G479E; 2:162194715-162194715	skin	malignant_melanoma	Substitution - Missense
c.1952C>A; p.S651Y; 2:162174884-162174884	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1375G>A; p.A459T; 2:162198784-162198784	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1092C>A; p.Y364*; 2:162203101-162203101	prostate	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2211C>T; p.S737S; 2:162171051-162171051	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.425G>T; p.R142I; 2:162219914-162219914	pancreas	carcinoma	Substitution - Missense
c.425G>T; p.R142I; 2:162219914-162219914	pancreas	carcinoma	Substitution - Missense
c.1414C>T; p.P472S; 2:162194737-162194737	skin	malignant_melanoma	Substitution - Missense
c.216A>T; p.A72A; 2:162225552-162225552	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2270C>T; p.S757F; 2:162170992-162170992	skin	malignant_melanoma	Substitution - Missense
c.1226T>A; p.F409Y; 2:162200617-162200617	skin	malignant_melanoma	Substitution - Missense
c.2262G>T; p.Q754H; 2:162171000-162171000	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.773A>C; p.K258T; 2:162215991-162215991	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.787C>T; p.R263W; 2:162215977-162215977	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.787C>T; p.R263W; 2:162215977-162215977	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.806C>G; p.T269S; 2:162215958-162215958	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2063A>C; p.Y688S; 2:162173193-162173193	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2010G>A; p.K670K; 2:162173747-162173747	pancreas	carcinoma	Substitution - coding silent
c.474T>G; p.V158V; 2:162219865-162219865	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.158C>A; p.S53Y; 2:162226555-162226555	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1542T>C; p.D514D; 2:162189663-162189663	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.1369G>A; p.D457N; 2:162198790-162198790	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.757C>G; p.P253A; 2:162217991-162217991	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1872C>T; p.S624S; 2:162174964-162174964	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1288G>T; p.G430*; 2:162198871-162198871	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1341G>A; p.R447R; 2:162198818-162198818	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.2034G>A; p.K678K; 2:162173723-162173723	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.325C>T; p.R109W; 2:162224501-162224501	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.160T>A; p.Y54N; 2:162226553-162226553	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.890C>T; p.T297M; 2:162214050-162214050	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1862G>T; p.W621L; 2:162183421-162183421	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1813A>G; p.R605G; 2:162188170-162188170	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2185T>C; p.Y729H; 2:162171077-162171077	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.610G>A; p.E204K; 2:162218138-162218138	skin	malignant_melanoma	Substitution - Missense
c.1969G>A; p.A657T; 2:162174867-162174867	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.610G>A; p.E204K; 2:162218138-162218138	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1050C>A; p.F350L; 2:162203143-162203143	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.44C>T; p.A15V; 2:162242955-162242955	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2065T>A; p.F689I; 2:162173191-162173191	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2016T>C; p.D672D; 2:162173741-162173741	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.859G>A; p.A287T; 2:162215905-162215905	meninges	meningioma; secretory	Substitution - Missense
c.2202C>T; p.H734H; 2:162171060-162171060	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2120T>A; p.F707Y; 2:162172872-162172872	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1620-37_1620-1del37; p.?; 2:162188364-162188400	ovary	carcinoma; serous_carcinoma	Unknown
c.583G>A; p.G195R; 2:162219087-162219087	skin	malignant_melanoma	Substitution - Missense
c.1648A>C; p.R550R; 2:162188335-162188335	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.583G>A; p.G195R; 2:162219087-162219087	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1649G>C; p.R550T; 2:162188334-162188334	breast	carcinoma	Substitution - Missense
c.1439G>A; p.R480H; 2:162194712-162194712	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1769G>A; p.R590Q; 2:162188214-162188214	skin	malignant_melanoma	Substitution - Missense
c.1769G>A; p.R590Q; 2:162188214-162188214	skin	malignant_melanoma	Substitution - Missense
c.659T>G; p.F220C; 2:162218089-162218089	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.734C>T; p.P245L; 2:162218014-162218014	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.327G>A; p.R109R; 2:162224499-162224499	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.86C>A; p.S29*; 2:162242913-162242913	autonomic_ganglia	neuroblastoma	Substitution - Nonsense
c.1620-2A>T; p.?; 2:162188365-162188365	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.414-1G>C; p.?; 2:162219926-162219926	urinary_tract; bladder	carcinoma	Unknown
c.1620-2A>T; p.?; 2:162188365-162188365	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.1620-2A>T; p.?; 2:162188365-162188365	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.818C>T; p.A273V; 2:162215946-162215946	pancreas	carcinoma	Substitution - Missense
c.2002C>T; p.P668S; 2:162173755-162173755	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1743T>G; p.G581G; 2:162188240-162188240	breast	carcinoma	Substitution - coding silent
c.788G>A; p.R263Q; 2:162215976-162215976	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.510C>A; p.I170I; 2:162219160-162219160	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1815-1G>C; p.?; 2:162183469-162183469	breast	carcinoma	Unknown
c.1402+9C>T; p.?; 2:162198748-162198748	prostate	carcinoma	Unknown
c.1825G>T; p.E609*; 2:162183458-162183458	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.947C>T; p.S316L; 2:162213993-162213993	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.947C>T; p.S316L; 2:162213993-162213993	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.947C>T; p.S316L; 2:162213993-162213993	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.947C>T; p.S316L; 2:162213993-162213993	skin	malignant_melanoma	Substitution - Missense
c.757C>T; p.P253S; 2:162217991-162217991	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.565G>T; p.E189*; 2:162219105-162219105	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1620-1G>T; p.?; 2:162188364-162188364	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.2172C>T; p.F724F; 2:162172820-162172820	skin	malignant_melanoma	Substitution - coding silent
c.2172C>T; p.F724F; 2:162172820-162172820	skin	malignant_melanoma	Substitution - coding silent
c.75C>T; p.V25V; 2:162242924-162242924	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2172C>T; p.F724F; 2:162172820-162172820	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.467delC; p.S156fs*7; 2:162219872-162219872	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma	Deletion - Frameshift
c.467delC; p.S156fs*7; 2:162219872-162219872	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Deletion - Frameshift
c.751C>G; p.P251A; 2:162217997-162217997	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1302A>T; p.P434P; 2:162198857-162198857	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1440C>A; p.R480R; 2:162194711-162194711	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1220C>T; p.S407L; 2:162202875-162202875	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1048-1G>C; p.?; 2:162203146-162203146	ovary	carcinoma; serous_carcinoma	Unknown
c.720C>T; p.G240G; 2:162218028-162218028	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2042C>A; p.T681N; 2:162173214-162173214	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1211C>T; p.T404I; 2:162202884-162202884	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.546A>C; p.Q182H; 2:162219124-162219124	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.290G>T; p.S97I; 2:162224536-162224536	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.1468G>A; p.E490K; 2:162189737-162189737	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.720C>G; p.G240G; 2:162218028-162218028	thyroid	other; neoplasm	Substitution - coding silent
c.646C>A; p.P216T; 2:162218102-162218102	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1281T>C; p.I427I; 2:162198878-162198878	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1942G>C; p.A648P; 2:162174894-162174894	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.231A>G; p.V77V; 2:162225537-162225537	pancreas	carcinoma	Substitution - coding silent
c.2222C>A; p.T741K; 2:162171040-162171040	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.415G>T; p.E139*; 2:162219924-162219924	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.415G>T; p.E139*; 2:162219924-162219924	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1506G>T; p.Q502H; 2:162189699-162189699	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.592G>T; p.D198Y; 2:162219078-162219078	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1592C>T; p.S531L; 2:162189130-162189130	skin	malignant_melanoma	Substitution - Missense
c.1195A>C; p.N399H; 2:162202900-162202900	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.468G>A; p.S156S; 2:162219871-162219871	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1089G>A; p.S363S; 2:162203104-162203104	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1749A>G; p.K583K; 2:162188234-162188234	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.944T>C; p.V315A; 2:162213996-162213996	oesophagus	carcinoma	Substitution - Missense
c.493G>A; p.V165I; 2:162219177-162219177	central_nervous_system; brainstem	primitive_neuroectodermal_tumour-medulloblastoma; WNT_subtype	Substitution - Missense
c.493G>A; p.V165I; 2:162219177-162219177	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma	Substitution - Missense
c.1430A>C; p.H477P; 2:162194721-162194721	pancreas	carcinoma	Substitution - Missense
c.1868G>C; p.W623S; 2:162183415-162183415	thyroid	carcinoma	Substitution - Missense
c.2039C>G; p.S680*; 2:162173217-162173217	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.382G>A; p.A128T; 2:162223639-162223639	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2032A>G; p.K678E; 2:162173725-162173725	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1160C>T; p.A387V; 2:162202935-162202935	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.272G>T; p.S91I; 2:162225496-162225496	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.899C>T; p.T300I; 2:162214041-162214041	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1153G>A; p.E385K; 2:162202942-162202942	skin	malignant_melanoma	Substitution - Missense
c.1982C>T; p.T661I; 2:162173775-162173775	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1153G>A; p.E385K; 2:162202942-162202942	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1153G>A; p.E385K; 2:162202942-162202942	skin	malignant_melanoma	Substitution - Missense
c.1804A>G; p.T602A; 2:162188179-162188179	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.117G>C; p.M39I; 2:162226596-162226596	NS	NS	Substitution - Missense
c.322G>T; p.D108Y; 2:162224504-162224504	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.239A>T; p.N80I; 2:162225529-162225529	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1405C>T; p.P469S; 2:162194746-162194746	urinary_tract; bladder	carcinoma	Substitution - Missense
c.948G>A; p.S316S; 2:162213992-162213992	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.458T>C; p.L153S; 2:162219881-162219881	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1666A>G; p.N556D; 2:162188317-162188317	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.148G>A; p.G50R; 2:162226565-162226565	skin; extremity	malignant_melanoma	Substitution - Missense
c.1631C>A; p.P544H; 2:162188352-162188352	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1415C>T; p.P472L; 2:162194736-162194736	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1093T>A; p.Y365N; 2:162203100-162203100	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.789G>T; p.R263R; 2:162215975-162215975	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation