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	64127
Symbol	NOD2
Synonymous	ACUG\|BLAU\|CARD15\|CD\|CLR16.3\|IBD1\|NLRC2\|NOD2B\|PSORAS1
Full name	nucleotide-binding oligomerization domain containing 2
Gene description	NLR family, CARD domain containing 2\|NOD-like receptor C2\|caspase recruitment domain family, member 15\|caspase recruitment domain protein 15\|caspase recruitment domain-containing protein 15\|inflammatory bowel disease protein 1\|nucleotide-binding oligomeri
Cytoband	16q21
Gene type	protein-coding
Synonymous	MIM:605956; HGNC:HGNC:5331; Ensembl:ENSG00000167207; HPRD:05810; Vega:OTTHUMG00000133171

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.769C>T; p.L257L; 16:50710680-50710680	skin	malignant_melanoma	Substitution - coding silent
c.1377C>T; p.R459R; 16:50711288-50711288	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.1704G>A; p.Q568Q; 16:50711615-50711615	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2882+1G>A; p.?; 16:50723385-50723385	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1577_1578insC; p.D529fs*50; 16:50711488-50711489	stomach	carcinoma; intestinal_adenocarcinoma	Insertion - Frameshift
c.478G>A; p.G160S; 16:50699892-50699892	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1277G>A; p.R426H; 16:50711188-50711188	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1733A>T; p.D578V; 16:50711644-50711644	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3056G>A; p.R1019Q; 16:50731752-50731752	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2902C>T; p.Q968*; 16:50725508-50725508	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.442C>T; p.H148Y; 16:50699856-50699856	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1966G>C; p.D656H; 16:50711877-50711877	skin	malignant_melanoma	Substitution - Missense
c.2745G>A; p.G915G; 16:50722652-50722652	skin	malignant_melanoma	Substitution - coding silent
c.517C>T; p.P173S; 16:50699931-50699931	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1146C>T; p.D382D; 16:50711057-50711057	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2196C>T; p.S732S; 16:50712107-50712107	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.61G>T; p.G21*; 16:50697304-50697304	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Nonsense
c.1320C>T; p.T440T; 16:50711231-50711231	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.229C>T; p.L77L; 16:50699643-50699643	skin	malignant_melanoma	Substitution - coding silent
c.1735G>T; p.D579Y; 16:50711646-50711646	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.90G>T; p.S30S; 16:50699504-50699504	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1501C>T; p.L501L; 16:50711412-50711412	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.159C>T; p.F53F; 16:50699573-50699573	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2368C>T; p.R790W; 16:50712279-50712279	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1119T>A; p.R373R; 16:50711030-50711030	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2926G>A; p.A976T; 16:50725532-50725532	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1642C>T; p.L548L; 16:50711553-50711553	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1535A>T; p.D512V; 16:50711446-50711446	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2267G>A; p.R756Q; 16:50712178-50712178	pancreas	carcinoma	Substitution - Missense
c.1582C>T; p.P528S; 16:50711493-50711493	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2267G>A; p.R756Q; 16:50712178-50712178	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1970G>C; p.S657T; 16:50711881-50711881	liver	carcinoma	Substitution - Missense
c.1970G>C; p.S657T; 16:50711881-50711881	liver	carcinoma	Substitution - Missense
c.2078G>A; p.C693Y; 16:50711989-50711989	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3019_3020insC; p.L1007fs*2; 16:50729870-50729871	skin; axilla	malignant_melanoma	Insertion - Frameshift
c.2455G>A; p.A819T; 16:50712366-50712366	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1832C>T; p.A611V; 16:50711743-50711743	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2090A>T; p.E697V; 16:50712001-50712001	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2180C>T; p.P727L; 16:50712091-50712091	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2572G>A; p.G858S; 16:50716916-50716916	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2090A>T; p.E697V; 16:50712001-50712001	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.2463-1G>C; p.?; 16:50716586-50716586	stomach	carcinoma; adenocarcinoma	Unknown
c.1166C>T; p.T389M; 16:50711077-50711077	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1367T>C; p.L456P; 16:50711278-50711278	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.217G>A; p.G73S; 16:50699631-50699631	skin	malignant_melanoma	Substitution - Missense
c.613G>T; p.E205*; 16:50707927-50707927	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.2096C>T; p.A699V; 16:50712007-50712007	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2096C>T; p.A699V; 16:50712007-50712007	liver	carcinoma	Substitution - Missense
c.1761T>G; p.R587R; 16:50711672-50711672	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1761T>G; p.R587R; 16:50711672-50711672	thyroid	other; neoplasm	Substitution - coding silent
c.2015A>C; p.Q672P; 16:50711926-50711926	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.228C>T; p.L76L; 16:50699642-50699642	skin	malignant_melanoma	Substitution - coding silent
c.1974C>T; p.S658S; 16:50711885-50711885	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2988C>T; p.T996T; 16:50729839-50729839	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2031C>T; p.F677F; 16:50711942-50711942	skin; trunk	malignant_melanoma; nodular	Substitution - coding silent
c.1504C>T; p.Q502*; 16:50711415-50711415	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2996G>A; p.G999E; 16:50729847-50729847	skin	malignant_melanoma	Substitution - Missense
c.2937G>A; p.L979L; 16:50725543-50725543	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1650G>A; p.L550L; 16:50711561-50711561	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3078G>A; p.E1026E; 16:50731774-50731774	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2715-7delT; p.?; 16:50722615-50722615	skin	malignant_melanoma	Unknown
c.2773G>A; p.D925N; 16:50722680-50722680	skin	malignant_melanoma	Substitution - Missense
c.1323G>A; p.E441E; 16:50711234-50711234	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1660G>A; p.A554T; 16:50711571-50711571	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1117C>T; p.R373C; 16:50711028-50711028	skin	malignant_melanoma	Substitution - Missense
c.89C>T; p.S30L; 16:50699503-50699503	skin	malignant_melanoma	Substitution - Missense
c.111G>T; p.Q37H; 16:50699525-50699525	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2998G>T; p.A1000S; 16:50729849-50729849	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1343C>T; p.S448F; 16:50711254-50711254	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.343C>T; p.Q115*; 16:50699757-50699757	skin	malignant_melanoma	Substitution - Nonsense
c.1191G>A; p.P397P; 16:50711102-50711102	pancreas	carcinoma	Substitution - coding silent
c.976C>T; p.L326F; 16:50710887-50710887	skin	malignant_melanoma	Substitution - Missense
c.412C>G; p.R138G; 16:50699826-50699826	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.224A>C; p.H75P; 16:50699638-50699638	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3069C>T; p.F1023F; 16:50731765-50731765	skin	malignant_melanoma	Substitution - coding silent
c.875C>T; p.A292V; 16:50710786-50710786	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.976C>A; p.L326I; 16:50710887-50710887	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.976C>A; p.L326I; 16:50710887-50710887	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.976C>A; p.L326I; 16:50710887-50710887	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.921G>T; p.T307T; 16:50710832-50710832	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2217C>T; p.F739F; 16:50712128-50712128	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.135G>A; p.L45L; 16:50699549-50699549	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.922C>T; p.L308F; 16:50710833-50710833	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2438G>C; p.C813S; 16:50712349-50712349	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2074G>A; p.E692K; 16:50711985-50711985	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.802C>T; p.P268S; 16:50710713-50710713	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2974A>T; p.N992Y; 16:50729825-50729825	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2074G>A; p.E692K; 16:50711985-50711985	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2074G>A; p.E692K; 16:50711985-50711985	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2488C>T; p.R830*; 16:50716612-50716612	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1577delC; p.P528fs*235; 16:50711488-50711488	skin	malignant_melanoma	Deletion - Frameshift
c.1462T>C; p.F488L; 16:50711373-50711373	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1577delC; p.P528fs*235; 16:50711488-50711488	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1577delC; p.P528fs*235; 16:50711488-50711488	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1577delC; p.P528fs*235; 16:50711488-50711488	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1577delC; p.P528fs*235; 16:50711488-50711488	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1577delC; p.P528fs*235; 16:50711488-50711488	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1577delC; p.P528fs*235; 16:50711488-50711488	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1577delC; p.P528fs*235; 16:50711488-50711488	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1577delC; p.P528fs*235; 16:50711488-50711488	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1509delG; p.S506fs*11; 16:50711420-50711420	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2078G>T; p.C693F; 16:50711989-50711989	thyroid	other; neoplasm	Substitution - Missense
c.1509delG; p.S506fs*11; 16:50711420-50711420	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2859G>A; p.K953K; 16:50723361-50723361	skin	malignant_melanoma	Substitution - coding silent
c.1509delG; p.S506fs*11; 16:50711420-50711420	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1509delG; p.S506fs*11; 16:50711420-50711420	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2726A>T; p.N909I; 16:50722633-50722633	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2003C>T; p.P668L; 16:50711914-50711914	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2656G>A; p.A886T; 16:50719950-50719950	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1579C>G; p.P527A; 16:50711490-50711490	ovary	other; neoplasm	Substitution - Missense
c.1711C>T; p.Q571*; 16:50711622-50711622	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1711C>T; p.Q571*; 16:50711622-50711622	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.1710C>A; p.L570L; 16:50711621-50711621	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1305G>A; p.R435R; 16:50711216-50711216	skin	malignant_melanoma	Substitution - coding silent
c.274G>A; p.V92I; 16:50699688-50699688	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1728C>T; p.S576S; 16:50711639-50711639	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2241C>T; p.Y747Y; 16:50712152-50712152	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1489C>A; p.Q497K; 16:50711400-50711400	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2630+2T>C; p.?; 16:50716976-50716976	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.470G>T; p.W157L; 16:50699884-50699884	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1193C>T; p.T398I; 16:50711104-50711104	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1193C>T; p.T398I; 16:50711104-50711104	skin	malignant_melanoma	Substitution - Missense
c.852C>T; p.T284T; 16:50710763-50710763	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2172A>C; p.P724P; 16:50712083-50712083	breast	carcinoma	Substitution - coding silent
c.2884C>T; p.L962L; 16:50725490-50725490	skin	malignant_melanoma	Substitution - coding silent
c.704G>A; p.R235H; 16:50710615-50710615	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1633C>T; p.P545S; 16:50711544-50711544	skin	malignant_melanoma	Substitution - Missense
c.1621C>T; p.R541W; 16:50711532-50711532	skin	malignant_melanoma	Substitution - Missense
c.124G>A; p.V42I; 16:50699538-50699538	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.232G>A; p.G78S; 16:50699646-50699646	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1923C>A; p.A641A; 16:50711834-50711834	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1295C>T; p.A432V; 16:50711206-50711206	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.397G>T; p.D133Y; 16:50699811-50699811	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.744G>A; p.L248L; 16:50710655-50710655	skin; arm	malignant_melanoma	Substitution - coding silent
c.1627C>T; p.R543C; 16:50711538-50711538	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2197G>A; p.V733M; 16:50712108-50712108	pancreas	carcinoma	Substitution - Missense
c.903G>A; p.A301A; 16:50710814-50710814	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2700C>T; p.S900S; 16:50719994-50719994	skin	malignant_melanoma	Substitution - coding silent
c.1508_1509insG; p.S506fs*73; 16:50711419-50711420	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.830G>T; p.G277V; 16:50710741-50710741	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.869A>T; p.D290V; 16:50710780-50710780	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2383C>T; p.L795L; 16:50712294-50712294	liver	carcinoma	Substitution - coding silent
c.805C>T; p.P269S; 16:50710716-50710716	skin; upper_leg	malignant_melanoma	Substitution - Missense
c.1697C>G; p.S566*; 16:50711608-50711608	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.931C>T; p.R311W; 16:50710842-50710842	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.508A>T; p.I170F; 16:50699922-50699922	skin	malignant_melanoma	Substitution - Missense
c.1858G>A; p.D620N; 16:50711769-50711769	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1676G>A; p.G559D; 16:50711587-50711587	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2912G>A; p.G971D; 16:50725518-50725518	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1556A>C; p.Q519P; 16:50711467-50711467	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.191A>G; p.E64G; 16:50699605-50699605	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2847G>C; p.L949L; 16:50723349-50723349	liver	carcinoma	Substitution - coding silent
c.2940G>T; p.K980N; 16:50725546-50725546	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3076G>A; p.E1026K; 16:50731772-50731772	skin	malignant_melanoma	Substitution - Missense
c.836A>T; p.E279V; 16:50710747-50710747	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2776C>T; p.H926Y; 16:50722683-50722683	skin; trunk	malignant_melanoma	Substitution - Missense
c.1049T>G; p.F350C; 16:50710960-50710960	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3027G>A; p.R1009R; 16:50729878-50729878	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2751G>A; p.Q917Q; 16:50722658-50722658	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1508A>G; p.E503G; 16:50711419-50711419	liver	carcinoma	Substitution - Missense
c.2876A>C; p.E959A; 16:50723378-50723378	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2027C>T; p.A676V; 16:50711938-50711938	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2635G>A; p.G879R; 16:50719929-50719929	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1787C>T; p.T596M; 16:50711698-50711698	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2136C>T; p.A712A; 16:50712047-50712047	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1881A>T; p.R627S; 16:50711792-50711792	skin	malignant_melanoma	Substitution - Missense
c.1177C>T; p.R393C; 16:50711088-50711088	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1736A>G; p.D579G; 16:50711647-50711647	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.549G>A; p.R183R; 16:50707863-50707863	skin	malignant_melanoma	Substitution - coding silent
c.1259G>A; p.R420H; 16:50711170-50711170	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1259G>A; p.R420H; 16:50711170-50711170	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.140C>A; p.S47*; 16:50699554-50699554	thyroid	other; neoplasm	Substitution - Nonsense
c.857G>A; p.G286D; 16:50710768-50710768	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1956G>A; p.S652S; 16:50711867-50711867	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2369G>T; p.R790L; 16:50712280-50712280	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1195G>A; p.D399N; 16:50711106-50711106	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1851C>T; p.L617L; 16:50711762-50711762	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.861C>T; p.H287H; 16:50710772-50710772	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1851C>T; p.L617L; 16:50711762-50711762	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.409C>T; p.H137Y; 16:50699823-50699823	pancreas	carcinoma	Substitution - Missense
c.1158C>T; p.F386F; 16:50711069-50711069	breast	carcinoma	Substitution - coding silent
c.1171C>T; p.R391C; 16:50711082-50711082	skin	malignant_melanoma	Substitution - Missense
c.2686C>T; p.R896*; 16:50719980-50719980	skin	malignant_melanoma	Substitution - Nonsense
c.2546C>T; p.A849V; 16:50716670-50716670	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2901C>G; p.L967L; 16:50725507-50725507	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2184T>C; p.G728G; 16:50712095-50712095	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1285G>A; p.A429T; 16:50711196-50711196	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1285G>A; p.A429T; 16:50711196-50711196	oesophagus	carcinoma	Substitution - Missense
c.1358A>G; p.E453G; 16:50711269-50711269	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1121T>C; p.V374A; 16:50711032-50711032	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2489G>A; p.R830Q; 16:50716613-50716613	skin	malignant_melanoma	Substitution - Missense
c.90G>A; p.S30S; 16:50699504-50699504	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.780G>A; p.W260*; 16:50710691-50710691	skin	malignant_melanoma	Substitution - Nonsense
c.1798G>A; p.E600K; 16:50711709-50711709	skin	malignant_melanoma	Substitution - Missense
c.1028T>C; p.L343P; 16:50710939-50710939	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.1782G>A; p.G594G; 16:50711693-50711693	skin	malignant_melanoma	Substitution - coding silent
c.660G>A; p.K220K; 16:50710571-50710571	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1786A>G; p.T596A; 16:50711697-50711697	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3075_3076delAG; p.E1026fs*3; 16:50731771-50731772	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3094G>A; p.G1032S; 16:50731790-50731790	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2103C>T; p.L701L; 16:50712014-50712014	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1792C>A; p.P598T; 16:50711703-50711703	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1101C>T; p.L367L; 16:50711012-50711012	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.534C>G; p.S178S; 16:50699948-50699948	breast	carcinoma	Substitution - coding silent
c.806C>T; p.P269L; 16:50710717-50710717	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1316G>A; p.R439H; 16:50711227-50711227	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2715-10G>C; p.?; 16:50722612-50722612	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.735G>A; p.T245T; 16:50710646-50710646	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.919A>T; p.T307S; 16:50710830-50710830	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.500G>A; p.C167Y; 16:50699914-50699914	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2798+1G>A; p.?; 16:50722706-50722706	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.233G>C; p.G78A; 16:50699647-50699647	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.631G>T; p.A211S; 16:50707945-50707945	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.1867C>G; p.P623A; 16:50711778-50711778	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2468G>A; p.R823H; 16:50716592-50716592	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2468G>A; p.R823H; 16:50716592-50716592	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.581G>C; p.G194A; 16:50707895-50707895	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2771G>T; p.G924V; 16:50722678-50722678	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.433C>A; p.L145I; 16:50699847-50699847	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.476G>A; p.R159Q; 16:50699890-50699890	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1147G>A; p.E383K; 16:50711058-50711058	skin	malignant_melanoma	Substitution - Missense
c.2955G>A; p.L985L; 16:50725561-50725561	skin	malignant_melanoma	Substitution - coding silent
c.2859G>T; p.K953N; 16:50723361-50723361	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1720C>A; p.Q574K; 16:50711631-50711631	skin; mucosal	malignant_melanoma	Substitution - Missense
c.1791G>A; p.A597A; 16:50711702-50711702	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1791G>A; p.A597A; 16:50711702-50711702	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.1871C>T; p.A624V; 16:50711782-50711782	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2901C>A; p.L967L; 16:50725507-50725507	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2900T>A; p.L967H; 16:50725506-50725506	thyroid	carcinoma	Substitution - Missense
c.2278C>T; p.R760C; 16:50712189-50712189	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.103C>T; p.Q35*; 16:50699517-50699517	skin	malignant_melanoma	Substitution - Nonsense
c.912C>A; p.G304G; 16:50710823-50710823	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3040C>T; p.L1014L; 16:50729891-50729891	skin	malignant_melanoma	Substitution - coding silent
c.530C>T; p.P177L; 16:50699944-50699944	urinary_tract; bladder	carcinoma	Substitution - Missense
c.530C>T; p.P177L; 16:50699944-50699944	skin	malignant_melanoma	Substitution - Missense
c.530C>G; p.P177R; 16:50699944-50699944	breast	carcinoma	Substitution - Missense
c.2019C>A; p.I673I; 16:50711930-50711930	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.2758G>T; p.A920S; 16:50722665-50722665	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2023G>A; p.A675T; 16:50711934-50711934	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3059G>A; p.G1020E; 16:50731755-50731755	skin	malignant_melanoma	Substitution - Missense
c.1321G>A; p.E441K; 16:50711232-50711232	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2192A>G; p.K731R; 16:50712103-50712103	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.876G>A; p.A292A; 16:50710787-50710787	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.876G>A; p.A292A; 16:50710787-50710787	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1712A>T; p.Q571L; 16:50711623-50711623	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3026G>A; p.R1009K; 16:50729877-50729877	skin	malignant_melanoma	Substitution - Missense
c.2514T>G; p.C838W; 16:50716638-50716638	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.734C>T; p.T245M; 16:50710645-50710645	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.332A>G; p.Q111R; 16:50699746-50699746	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.412C>T; p.R138W; 16:50699826-50699826	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.575C>T; p.A192V; 16:50707889-50707889	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1081G>A; p.E361K; 16:50710992-50710992	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2658delG; p.G887fs*43; 16:50719952-50719952	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.538A>T; p.R180W; 16:50699952-50699952	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.581G>A; p.G194E; 16:50707895-50707895	skin	malignant_melanoma	Substitution - Missense
c.1618C>A; p.L540I; 16:50711529-50711529	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.106G>A; p.A36T; 16:50699520-50699520	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1118G>A; p.R373H; 16:50711029-50711029	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1618C>A; p.L540I; 16:50711529-50711529	skin	malignant_melanoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation