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	1272
Symbol	CNTN1
Synonymous	F3\|GP135\|MYPCN
Full name	contactin 1
Gene description	contactin-1\|glycoprotein gP135\|neural cell surface protein F3
Cytoband	12q11-q12
Gene type	protein-coding
Synonymous	MIM:600016; HGNC:HGNC:2171; Ensembl:ENSG00000018236; HPRD:07189; Vega:OTTHUMG00000169362

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.218C>T; p.P73L; 12:40918762-40918762	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2617C>T; p.P873S; 12:41025243-41025243	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2595G>A; p.S865S; 12:41025221-41025221	skin	malignant_melanoma	Substitution - coding silent
c.1599C>A; p.A533A; 12:40944086-40944086	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2284C>T; p.P762S; 12:41016781-41016781	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1292G>A; p.R431K; 12:40939398-40939398	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1548C>T; p.I516I; 12:40944035-40944035	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.462G>T; p.M154I; 12:40924618-40924618	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1814G>A; p.G605D; 12:40980918-40980918	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2577C>T; p.V859V; 12:41025203-41025203	breast	carcinoma	Substitution - coding silent
c.2802A>C; p.E934D; 12:41027948-41027948	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.895A>C; p.N299H; 12:40933788-40933788	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1920G>A; p.Q640Q; 12:40981024-40981024	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1490G>A; p.G497E; 12:40943707-40943707	breast	carcinoma	Substitution - Missense
c.2597C>T; p.A866V; 12:41025223-41025223	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.955G>T; p.D319Y; 12:40933848-40933848	large_intestine; rectum	NS	Substitution - Missense
c.1590T>C; p.F530F; 12:40944077-40944077	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1584G>A; p.A528A; 12:40944071-40944071	pancreas	carcinoma	Substitution - coding silent
c.851G>T; p.S284I; 12:40933744-40933744	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1472_1473GG>TT; p.G491V; 12:40943689-40943690	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.100G>A; p.E34K; 12:40918644-40918644	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2072A>T; p.E691V; 12:40993228-40993228	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.2072A>T; p.E691V; 12:40993228-40993228	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma	Substitution - Missense
c.322G>A; p.D108N; 12:40922350-40922350	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.400T>A; p.Y134N; 12:40922428-40922428	breast	carcinoma	Substitution - Missense
c.1831A>G; p.R611G; 12:40980935-40980935	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.664G>A; p.V222M; 12:40929963-40929963	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.664G>A; p.V222M; 12:40929963-40929963	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2914T>A; p.Y972N; 12:41029153-41029153	skin	malignant_melanoma	Substitution - Missense
c.664G>A; p.V222M; 12:40929963-40929963	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.253G>T; p.D85Y; 12:40922281-40922281	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.681C>T; p.I227I; 12:40929980-40929980	skin	malignant_melanoma	Substitution - coding silent
c.703+1G>A; p.?; 12:40930003-40930003	oesophagus	carcinoma; adenocarcinoma	Unknown
c.2368A>G; p.K790E; 12:41016865-41016865	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.681C>T; p.I227I; 12:40929980-40929980	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.913G>T; p.E305*; 12:40933806-40933806	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.499G>A; p.D167N; 12:40929798-40929798	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.448G>T; p.E150*; 12:40924604-40924604	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2009A>T; p.D670V; 12:40993165-40993165	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.511C>T; p.R171C; 12:40929810-40929810	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2647G>A; p.A883T; 12:41025273-41025273	ovary	other; neoplasm	Substitution - Missense
c.511C>T; p.R171C; 12:40929810-40929810	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2647G>A; p.A883T; 12:41025273-41025273	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2591A>G; p.Y864C; 12:41025217-41025217	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2786T>G; p.V929G; 12:41027932-41027932	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.387C>A; p.T129T; 12:40922415-40922415	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.393C>T; p.S131S; 12:40922421-40922421	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2591A>G; p.Y864C; 12:41025217-41025217	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.537A>G; p.V179V; 12:40929836-40929836	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1210G>A; p.A404T; 12:40937669-40937669	stomach	adenocarcinoma	Substitution - Missense
c.2118A>C; p.P706P; 12:41014232-41014232	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1240A>G; p.T414A; 12:40939346-40939346	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.2710+3G>A; p.?; 12:41025339-41025339	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1428_1429insA; p.N477fs*2; 12:40943645-40943646	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3010G>T; p.G1004C; 12:41069988-41069988	skin	malignant_melanoma	Substitution - Missense
c.2263A>G; p.K755E; 12:41016760-41016760	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2341C>T; p.Q781*; 12:41016838-41016838	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.827G>A; p.R276Q; 12:40933720-40933720	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2255A>T; p.E752V; 12:41016752-41016752	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.827G>A; p.R276Q; 12:40933720-40933720	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2201A>G; p.Y734C; 12:41016698-41016698	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2663G>T; p.G888V; 12:41025289-41025289	genital_tract; extragonadal	germ_cell_tumour; seminoma	Substitution - Missense
c.2041G>A; p.V681M; 12:40993197-40993197	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.502C>T; p.L168F; 12:40929801-40929801	skin	malignant_melanoma	Substitution - Missense
c.456A>G; p.K152K; 12:40924612-40924612	pancreas	carcinoma	Substitution - coding silent
c.1853C>T; p.T618I; 12:40980957-40980957	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1351G>T; p.G451W; 12:40939457-40939457	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.806C>T; p.P269L; 12:40933699-40933699	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2930G>A; p.R977H; 12:41029169-41029169	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2978C>T; p.S993L; 12:41029217-41029217	skin	malignant_melanoma	Substitution - Missense
c.2978C>T; p.S993L; 12:41029217-41029217	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.322G>T; p.D108Y; 12:40922350-40922350	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1138G>T; p.D380Y; 12:40937597-40937597	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1802G>T; p.R601I; 12:40959232-40959232	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2419+1G>A; p.?; 12:41016917-41016917	skin	malignant_melanoma	Unknown
c.2381C>A; p.P794H; 12:41016878-41016878	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1138G>T; p.D380Y; 12:40937597-40937597	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1055G>T; p.C352F; 12:40936850-40936850	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2719C>A; p.Q907K; 12:41027865-41027865	liver	carcinoma	Substitution - Missense
c.2719C>A; p.Q907K; 12:41027865-41027865	liver	carcinoma	Substitution - Missense
c.160G>A; p.E54K; 12:40918704-40918704	skin	malignant_melanoma	Substitution - Missense
c.1393G>T; p.E465*; 12:40943610-40943610	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.821G>A; p.R274Q; 12:40933714-40933714	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2001A>T; p.R667S; 12:40993157-40993157	oesophagus	carcinoma	Substitution - Missense
c.1196C>A; p.A399D; 12:40937655-40937655	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.667T>G; p.F223V; 12:40929966-40929966	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2500G>C; p.E834Q; 12:41020417-41020417	liver	carcinoma	Substitution - Missense
c.2500G>C; p.E834Q; 12:41020417-41020417	liver	carcinoma	Substitution - Missense
c.2390T>C; p.L797P; 12:41016887-41016887	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2410G>T; p.A804S; 12:41016907-41016907	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2900C>T; p.P967L; 12:41029139-41029139	skin	malignant_melanoma	Substitution - Missense
c.821G>C; p.R274P; 12:40933714-40933714	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2528G>A; p.R843Q; 12:41025154-41025154	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1313C>T; p.P438L; 12:40939419-40939419	skin	malignant_melanoma	Substitution - Missense
c.2660C>T; p.A887V; 12:41025286-41025286	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1877G>A; p.R626H; 12:40980981-40980981	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2106C>T; p.D702D; 12:40993262-40993262	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2106C>T; p.D702D; 12:40993262-40993262	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1832G>A; p.R611K; 12:40980936-40980936	pancreas	carcinoma	Substitution - Missense
c.1517G>A; p.R506Q; 12:40944004-40944004	pancreas	carcinoma	Substitution - Missense
c.181G>T; p.V61F; 12:40918725-40918725	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1517G>A; p.R506Q; 12:40944004-40944004	skin	malignant_melanoma	Substitution - Missense
c.1710C>T; p.I570I; 12:40959140-40959140	breast	carcinoma	Substitution - coding silent
c.1517G>A; p.R506Q; 12:40944004-40944004	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1517G>A; p.R506Q; 12:40944004-40944004	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1517G>A; p.R506Q; 12:40944004-40944004	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1517G>A; p.R506Q; 12:40944004-40944004	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1517G>A; p.R506Q; 12:40944004-40944004	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1517G>A; p.R506Q; 12:40944004-40944004	prostate	carcinoma	Substitution - Missense
c.1166A>G; p.Y389C; 12:40937625-40937625	liver	carcinoma	Substitution - Missense
c.2005G>A; p.V669M; 12:40993161-40993161	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.877G>T; p.A293S; 12:40933770-40933770	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2005G>A; p.V669M; 12:40993161-40993161	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.341G>T; p.C114F; 12:40922369-40922369	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.697C>A; p.P233T; 12:40929996-40929996	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2570T>A; p.V857D; 12:41025196-41025196	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2087C>G; p.S696C; 12:40993243-40993243	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1379+1G>A; p.?; 12:40939486-40939486	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Unknown
c.453G>C; p.G151G; 12:40924609-40924609	skin	malignant_melanoma	Substitution - coding silent
c.2488G>T; p.E830*; 12:41020405-41020405	liver	carcinoma	Substitution - Nonsense
c.2454A>C; p.K818N; 12:41020371-41020371	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2488G>T; p.E830*; 12:41020405-41020405	liver	carcinoma	Substitution - Nonsense
c.401-1G>T; p.?; 12:40924556-40924556	lung	carcinoma; adenocarcinoma	Unknown
c.2814G>T; p.T938T; 12:41027960-41027960	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1841A>G; p.D614G; 12:40980945-40980945	liver	carcinoma	Substitution - Missense
c.709A>C; p.T237P; 12:40933466-40933466	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.696A>G; p.I232M; 12:40929995-40929995	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.118G>T; p.G40*; 12:40918662-40918662	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1841A>G; p.D614G; 12:40980945-40980945	liver	carcinoma	Substitution - Missense
c.1726A>G; p.K576E; 12:40959156-40959156	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1711C>T; p.R571*; 12:40959141-40959141	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.550G>T; p.D184Y; 12:40929849-40929849	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2711C>T; p.P904L; 12:41027857-41027857	skin	malignant_melanoma	Substitution - Missense
c.162G>T; p.E54D; 12:40918706-40918706	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.403C>A; p.L135I; 12:40924559-40924559	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.478C>A; p.P160T; 12:40924634-40924634	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2179T>C; p.W727R; 12:41014293-41014293	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.950G>A; p.G317E; 12:40933843-40933843	skin	malignant_melanoma	Substitution - Missense
c.2355G>T; p.K785N; 12:41016852-41016852	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.998G>A; p.W333*; 12:40936793-40936793	skin	malignant_melanoma	Substitution - Nonsense
c.998G>A; p.W333*; 12:40936793-40936793	skin	malignant_melanoma	Substitution - Nonsense
c.158C>T; p.P53L; 12:40918702-40918702	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2439A>G; p.T813T; 12:41020356-41020356	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1657A>G; p.N553D; 12:40944144-40944144	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2184+4A>C; p.?; 12:41014302-41014302	stomach	adenocarcinoma	Unknown
c.1462A>T; p.N488Y; 12:40943679-40943679	urinary_tract; bladder	carcinoma	Substitution - Missense
c.145A>G; p.N49D; 12:40918689-40918689	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1641C>T; p.I547I; 12:40944128-40944128	skin	malignant_melanoma	Substitution - coding silent
c.513C>G; p.R171R; 12:40929812-40929812	oesophagus	carcinoma	Substitution - coding silent
c.1641C>T; p.I547I; 12:40944128-40944128	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2185-1G>A; p.?; 12:41016681-41016681	skin	malignant_melanoma	Unknown
c.793G>T; p.A265S; 12:40933550-40933550	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.876G>T; p.G292G; 12:40933769-40933769	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1933C>A; p.L645I; 12:40981037-40981037	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1028A>G; p.D343G; 12:40936823-40936823	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.613G>A; p.D205N; 12:40929912-40929912	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.613G>A; p.D205N; 12:40929912-40929912	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.613G>A; p.D205N; 12:40929912-40929912	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.613G>A; p.D205N; 12:40929912-40929912	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.613G>A; p.D205N; 12:40929912-40929912	skin	malignant_melanoma	Substitution - Missense
c.1326G>A; p.P442P; 12:40939432-40939432	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.777G>C; p.V259V; 12:40933534-40933534	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1326G>A; p.P442P; 12:40939432-40939432	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2107G>A; p.G703S; 12:40993263-40993263	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2040C>T; p.R680R; 12:40993196-40993196	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1452C>A; p.C484*; 12:40943669-40943669	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Nonsense
c.556C>T; p.R186W; 12:40929855-40929855	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.555A>T; p.K185N; 12:40929854-40929854	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.556C>T; p.R186W; 12:40929855-40929855	pancreas	carcinoma	Substitution - Missense
c.206C>T; p.A69V; 12:40918750-40918750	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.202C>T; p.R68*; 12:40918746-40918746	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1446T>C; p.Y482Y; 12:40943663-40943663	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1691C>A; p.S564Y; 12:40959121-40959121	liver	carcinoma	Substitution - Missense
c.971G>A; p.R324K; 12:40933864-40933864	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2636T>C; p.I879T; 12:41025262-41025262	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.971G>A; p.R324K; 12:40933864-40933864	skin	malignant_melanoma	Substitution - Missense
c.1678T>G; p.F560V; 12:40944165-40944165	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.202C>A; p.R68R; 12:40918746-40918746	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.2470G>C; p.E824Q; 12:41020387-41020387	breast	carcinoma	Substitution - Missense
c.1870T>C; p.W624R; 12:40980974-40980974	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1285G>T; p.G429C; 12:40939391-40939391	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.3027C>T; p.A1009A; 12:41070005-41070005	skin	malignant_melanoma	Substitution - coding silent
c.694A>C; p.I232L; 12:40929993-40929993	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2998C>A; p.P1000T; 12:41069976-41069976	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1368C>G; p.V456V; 12:40939474-40939474	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3054C>T; p.F1018F; 12:41070032-41070032	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.767G>T; p.G256V; 12:40933524-40933524	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.712A>C; p.K238Q; 12:40933469-40933469	breast	carcinoma	Substitution - Missense
c.194G>A; p.C65Y; 12:40918738-40918738	liver	carcinoma	Substitution - Missense
c.291C>T; p.N97N; 12:40922319-40922319	skin	malignant_melanoma	Substitution - coding silent
c.703+1G>C; p.?; 12:40930003-40930003	liver	carcinoma	Unknown
c.1353G>A; p.G451G; 12:40939459-40939459	central_nervous_system; brain	glioma	Substitution - coding silent
c.2600G>A; p.R867K; 12:41025226-41025226	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2600G>A; p.R867K; 12:41025226-41025226	skin	malignant_melanoma	Substitution - Missense
c.2501delA; p.I836fs*1; 12:41020418-41020418	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.681C>A; p.I227I; 12:40929980-40929980	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3_4insA; p.M3fs*24; 12:40908435-40908436	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Insertion - Frameshift
c.755A>T; p.Y252F; 12:40933512-40933512	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2905G>T; p.D969Y; 12:41029144-41029144	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2800G>A; p.E934K; 12:41027946-41027946	liver	carcinoma	Substitution - Missense
c.767G>A; p.G256D; 12:40933524-40933524	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.971G>T; p.R324I; 12:40933864-40933864	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2700C>G; p.T900T; 12:41025326-41025326	lung	carcinoma; non_small_cell_carcinoma	Substitution - coding silent
c.2227A>G; p.I743V; 12:41016724-41016724	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1010T>C; p.I337T; 12:40936805-40936805	liver	carcinoma	Substitution - Missense
c.955G>C; p.D319H; 12:40933848-40933848	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1010T>C; p.I337T; 12:40936805-40936805	liver	carcinoma	Substitution - Missense
c.751G>T; p.V251L; 12:40933508-40933508	liver	carcinoma	Substitution - Missense
c.2882C>T; p.S961F; 12:41029121-41029121	breast	carcinoma	Substitution - Missense
c.1946delG; p.W649fs*1; 12:40981050-40981050	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.398G>T; p.G133V; 12:40922426-40922426	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1516C>T; p.R506*; 12:40944003-40944003	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.477delC; p.P161fs*14; 12:40924633-40924633	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2310A>G; p.K770K; 12:41016807-41016807	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2729G>A; p.R910K; 12:41027875-41027875	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1510C>T; p.P504S; 12:40943997-40943997	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1510C>T; p.P504S; 12:40943997-40943997	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.247G>A; p.D83N; 12:40922275-40922275	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1507G>C; p.D503H; 12:40943724-40943724	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1579G>A; p.A527T; 12:40944066-40944066	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2894C>G; p.P965R; 12:41029133-41029133	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.247G>A; p.D83N; 12:40922275-40922275	skin	malignant_melanoma	Substitution - Missense
c.1229C>T; p.A410V; 12:40939335-40939335	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2235A>T; p.A745A; 12:41016732-41016732	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.742T>C; p.F248L; 12:40933499-40933499	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2476T>A; p.S826T; 12:41020393-41020393	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.801A>T; p.G267G; 12:40933558-40933558	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.471C>T; p.L157L; 12:40924627-40924627	skin	malignant_melanoma	Substitution - coding silent
c.1958A>T; p.K653M; 12:40981062-40981062	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.113G>A; p.G38E; 12:40918657-40918657	skin	malignant_melanoma	Substitution - Missense
c.2380C>A; p.P794T; 12:41016877-41016877	liver	carcinoma	Substitution - Missense
c.1416C>T; p.N472N; 12:40943633-40943633	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.941A>G; p.N314S; 12:40933834-40933834	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1096A>T; p.K366*; 12:40936891-40936891	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1416C>T; p.N472N; 12:40943633-40943633	breast	carcinoma	Substitution - coding silent
c.2617C>G; p.P873A; 12:41025243-41025243	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1552G>T; p.V518F; 12:40944039-40944039	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2657G>A; p.S886N; 12:41025283-41025283	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1376G>A; p.S459N; 12:40939482-40939482	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1225T>G; p.L409V; 12:40937684-40937684	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1947G>A; p.W649*; 12:40981051-40981051	skin	malignant_melanoma	Substitution - Nonsense
c.1719G>A; p.A573A; 12:40959149-40959149	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1719G>A; p.A573A; 12:40959149-40959149	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1674G>A; p.R558R; 12:40944161-40944161	skin	malignant_melanoma	Substitution - coding silent
c.1674G>A; p.R558R; 12:40944161-40944161	skin	malignant_melanoma	Substitution - coding silent
c.2382T>C; p.P794P; 12:41016879-41016879	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.659A>G; p.K220R; 12:40929958-40929958	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2382T>C; p.P794P; 12:41016879-41016879	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1109C>T; p.A370V; 12:40936904-40936904	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.118G>A; p.G40R; 12:40918662-40918662	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2699C>T; p.T900I; 12:41025325-41025325	skin	malignant_melanoma	Substitution - Missense
c.1514C>T; p.T505M; 12:40944001-40944001	prostate	carcinoma	Substitution - Missense
c.1514C>T; p.T505M; 12:40944001-40944001	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1514C>T; p.T505M; 12:40944001-40944001	breast	carcinoma	Substitution - Missense
c.2900C>G; p.P967R; 12:41029139-41029139	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.227+4A>T; p.?; 12:40918775-40918775	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1077C>G; p.I359M; 12:40936872-40936872	skin	malignant_melanoma	Substitution - Missense
c.2528G>C; p.R843P; 12:41025154-41025154	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2689G>C; p.E897Q; 12:41025315-41025315	breast	carcinoma	Substitution - Missense
c.1727A>G; p.K576R; 12:40959157-40959157	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2837C>T; p.P946L; 12:41029076-41029076	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1641C>A; p.I547I; 12:40944128-40944128	breast	carcinoma	Substitution - coding silent
c.2689G>C; p.E897Q; 12:41025315-41025315	breast	carcinoma	Substitution - Missense
c.316C>T; p.Q106*; 12:40922344-40922344	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Nonsense
c.2742A>C; p.S914S; 12:41027888-41027888	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.727G>T; p.D243Y; 12:40933484-40933484	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.316C>A; p.Q106K; 12:40922344-40922344	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.352A>G; p.N118D; 12:40922380-40922380	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1093T>C; p.L365L; 12:40936888-40936888	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2437A>G; p.T813A; 12:41020354-41020354	lung	carcinoma; undifferentiated_carcinoma	Substitution - Missense
c.2814G>A; p.T938T; 12:41027960-41027960	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2750C>T; p.S917F; 12:41027896-41027896	skin	malignant_melanoma	Substitution - Missense
c.1319C>T; p.A440V; 12:40939425-40939425	skin	malignant_melanoma	Substitution - Missense
c.497-1G>A; p.?; 12:40929795-40929795	lung; right_lower_lobe	carcinoma; adenocarcinoma	Unknown
c.360C>T; p.Y120Y; 12:40922388-40922388	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.112G>T; p.G38*; 12:40918656-40918656	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.903G>A; p.Q301Q; 12:40933796-40933796	skin	malignant_melanoma	Substitution - coding silent
c.1828C>A; p.L610M; 12:40980932-40980932	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1828C>A; p.L610M; 12:40980932-40980932	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1828C>A; p.L610M; 12:40980932-40980932	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1830G>T; p.L610L; 12:40980934-40980934	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1712G>A; p.R571Q; 12:40959142-40959142	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2745A>G; p.V915V; 12:41027891-41027891	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1492A>C; p.T498P; 12:40943709-40943709	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1363C>T; p.L455F; 12:40939469-40939469	breast	carcinoma	Substitution - Missense
c.1632C>G; p.G544G; 12:40944119-40944119	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2665T>A; p.C889S; 12:41025291-41025291	breast	carcinoma	Substitution - Missense
c.2107G>T; p.G703C; 12:40993263-40993263	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2107G>T; p.G703C; 12:40993263-40993263	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1251G>A; p.M417I; 12:40939357-40939357	skin	malignant_melanoma	Substitution - Missense
c.319A>G; p.K107E; 12:40922347-40922347	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.687C>A; p.L229L; 12:40929986-40929986	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2131T>C; p.S711P; 12:41014245-41014245	central_nervous_system; spinal_cord	glioma; ependymoma	Substitution - Missense
c.560G>A; p.R187Q; 12:40929859-40929859	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.560G>A; p.R187Q; 12:40929859-40929859	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2527C>T; p.R843W; 12:41025153-41025153	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2644G>A; p.G882R; 12:41025270-41025270	liver	carcinoma	Substitution - Missense
c.2527C>T; p.R843W; 12:41025153-41025153	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2710+2T>C; p.?; 12:41025338-41025338	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.1506A>G; p.T502T; 12:40943723-40943723	breast	carcinoma	Substitution - coding silent
c.1309A>G; p.K437E; 12:40939415-40939415	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2934G>A; p.A978A; 12:41029173-41029173	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2521C>A; p.Q841K; 12:41020438-41020438	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.682C>A; p.P228T; 12:40929981-40929981	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1469G>T; p.R490I; 12:40943686-40943686	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2233G>A; p.A745T; 12:41016730-41016730	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3049G>A; p.E1017K; 12:41070027-41070027	skin	malignant_melanoma	Substitution - Missense
c.844A>T; p.M282L; 12:40933737-40933737	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1907A>G; p.K636R; 12:40981011-40981011	pancreas	carcinoma	Substitution - Missense
c.820C>T; p.R274*; 12:40933713-40933713	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.860A>C; p.E287A; 12:40933753-40933753	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1073C>T; p.P358L; 12:40936868-40936868	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2691G>T; p.E897D; 12:41025317-41025317	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1306T>A; p.C436S; 12:40939412-40939412	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2358C>T; p.A786A; 12:41016855-41016855	skin	malignant_melanoma	Substitution - coding silent
c.754T>C; p.Y252H; 12:40933511-40933511	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1081A>G; p.T361A; 12:40936876-40936876	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1317A>C; p.K439N; 12:40939423-40939423	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.457G>A; p.G153R; 12:40924613-40924613	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.708A>G; p.T236T; 12:40933465-40933465	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.207C>T; p.A69A; 12:40918751-40918751	thyroid	other; neoplasm	Substitution - coding silent
c.1023G>T; p.E341D; 12:40936818-40936818	breast	carcinoma	Substitution - Missense
c.963T>C; p.H321H; 12:40933856-40933856	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2534G>T; p.W845L; 12:41025160-41025160	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2063G>T; p.G688V; 12:40993219-40993219	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.835C>A; p.L279I; 12:40933728-40933728	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2084C>A; p.P695Q; 12:40993240-40993240	ovary	other; neoplasm	Substitution - Missense
c.1157C>A; p.A386D; 12:40937616-40937616	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.494C>T; p.P165L; 12:40924650-40924650	central_nervous_system; cerebrum	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2518T>C; p.Y840H; 12:41020435-41020435	skin; leg	malignant_melanoma; nodular	Substitution - Missense
c.2162G>C; p.R721T; 12:41014276-41014276	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.984A>T; p.Q328H; 12:40933877-40933877	liver	carcinoma	Substitution - Missense
c.2262G>A; p.W754*; 12:41016759-41016759	skin	malignant_melanoma	Substitution - Nonsense
c.76A>T; p.R26*; 12:40910087-40910087	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.937G>A; p.E313K; 12:40933830-40933830	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.168A>C; p.S56S; 12:40918712-40918712	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1596T>C; p.P532P; 12:40944083-40944083	pancreas	carcinoma	Substitution - coding silent
c.629C>T; p.S210F; 12:40929928-40929928	skin; neck	malignant_melanoma	Substitution - Missense
c.1159G>A; p.G387R; 12:40937618-40937618	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1159G>A; p.G387R; 12:40937618-40937618	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1790A>G; p.D597G; 12:40959220-40959220	liver	carcinoma	Substitution - Missense
c.2183C>T; p.A728V; 12:41014297-41014297	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1274T>C; p.L425P; 12:40939380-40939380	liver	carcinoma	Substitution - Missense
c.2183C>T; p.A728V; 12:41014297-41014297	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2183C>T; p.A728V; 12:41014297-41014297	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.361G>C; p.G121R; 12:40922389-40922389	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1508A>G; p.D503G; 12:40943995-40943995	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1515G>A; p.T505T; 12:40944002-40944002	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.409C>T; p.P137S; 12:40924565-40924565	skin	malignant_melanoma	Substitution - Missense
c.2599A>G; p.R867G; 12:41025225-41025225	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2714C>T; p.P905L; 12:41027860-41027860	breast	carcinoma	Substitution - Missense
c.1367T>C; p.V456A; 12:40939473-40939473	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.333A>G; p.I111M; 12:40922361-40922361	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2533T>C; p.W845R; 12:41025159-41025159	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1170G>T; p.Q390H; 12:40937629-40937629	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2769C>T; p.I923I; 12:41027915-41027915	skin	malignant_melanoma	Substitution - coding silent
c.2675C>A; p.P892Q; 12:41025301-41025301	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.592A>G; p.I198V; 12:40929891-40929891	skin; upper_back	malignant_melanoma	Substitution - Missense
c.2016C>T; p.I672I; 12:40993172-40993172	skin	malignant_melanoma	Substitution - coding silent
c.2016C>T; p.I672I; 12:40993172-40993172	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.755A>G; p.Y252C; 12:40933512-40933512	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2314G>A; p.E772K; 12:41016811-41016811	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2003C>A; p.A668E; 12:40993159-40993159	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1272C>T; p.I424I; 12:40939378-40939378	skin	malignant_melanoma	Substitution - coding silent
c.623A>C; p.N208T; 12:40929922-40929922	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.219G>A; p.P73P; 12:40918763-40918763	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.219G>A; p.P73P; 12:40918763-40918763	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2038C>T; p.R680C; 12:40993194-40993194	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.390G>T; p.L130L; 12:40922418-40922418	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.2482C>T; p.H828Y; 12:41020399-41020399	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.390G>T; p.L130L; 12:40922418-40922418	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.2225A>G; p.Y742C; 12:41016722-41016722	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1340C>G; p.S447*; 12:40939446-40939446	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.757G>T; p.A253S; 12:40933514-40933514	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.497-2A>T; p.?; 12:40929794-40929794	lung	carcinoma; non_small_cell_carcinoma	Unknown
c.2378G>C; p.G793A; 12:41016875-41016875	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2132C>T; p.S711L; 12:41014246-41014246	central_nervous_system; spinal_cord	glioma; ependymoma	Substitution - Missense
c.2132C>T; p.S711L; 12:41014246-41014246	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.565G>T; p.V189L; 12:40929864-40929864	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1432G>T; p.D478Y; 12:40943649-40943649	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2681A>G; p.D894G; 12:41025307-41025307	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.103G>T; p.E35*; 12:40918647-40918647	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1778C>T; p.S593L; 12:40959208-40959208	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.825G>A; p.W275*; 12:40933718-40933718	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.217C>T; p.P73S; 12:40918761-40918761	skin	malignant_melanoma	Substitution - Missense
c.2649C>T; p.A883A; 12:41025275-41025275	skin	malignant_melanoma	Substitution - coding silent
c.1670A>C; p.Q557P; 12:40944157-40944157	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation