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	253260
Symbol	RICTOR
Synonymous	AVO3\|PIA\|hAVO3
Full name	RPTOR independent companion of MTOR, complex 2
Gene description	AVO3 homolog\|TORC2-specific protein AVO3\|pianissimo\|rapamycin-insensitive companion of mTOR
Cytoband	5p13.1
Gene type	protein-coding
Synonymous	MIM:609022; HGNC:HGNC:28611; Ensembl:ENSG00000164327; HPRD:10682; Vega:OTTHUMG00000162037

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1416C>T; p.A472A; 5:38963026-38963026	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.3240G>C; p.K1080N; 5:38950608-38950608	lung; left_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.523G>C; p.D175H; 5:38991009-38991009	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4315-10C>A; p.?; 5:38946562-38946562	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.5053-7delT; p.?; 5:38942385-38942385	liver	carcinoma	Unknown
c.476C>T; p.S159F; 5:38991056-38991056	skin	malignant_melanoma	Substitution - Missense
c.664C>T; p.R222*; 5:38981956-38981956	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.476C>T; p.S159F; 5:38991056-38991056	skin	malignant_melanoma	Substitution - Missense
c.3561G>C; p.K1187N; 5:38950287-38950287	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2452C>G; p.L818V; 5:38957699-38957699	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4464T>C; p.S1488S; 5:38945660-38945660	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.4402C>G; p.L1468V; 5:38945722-38945722	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2903G>C; p.C968S; 5:38952420-38952420	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1997T>G; p.L666R; 5:38959833-38959833	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4399+3A>G; p.?; 5:38946465-38946465	pancreas	carcinoma	Unknown
c.614G>A; p.R205Q; 5:38982006-38982006	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4728C>T; p.C1576C; 5:38944974-38944974	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.946C>A; p.L316I; 5:38971903-38971903	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.292G>C; p.E98Q; 5:39002635-39002635	urinary_tract; bladder	carcinoma	Substitution - Missense
c.292G>C; p.E98Q; 5:39002635-39002635	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1201C>T; p.R401C; 5:38967178-38967178	skin	malignant_melanoma	Substitution - Missense
c.1081A>C; p.S361R; 5:38967407-38967407	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.4363G>A; p.D1455N; 5:38946504-38946504	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.721C>T; p.R241*; 5:38981899-38981899	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.4037C>G; p.S1346C; 5:38949811-38949811	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4897G>C; p.E1633Q; 5:38944462-38944462	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.717G>T; p.K239N; 5:38981903-38981903	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2052-9delT; p.?; 5:38959330-38959330	skin	malignant_melanoma	Unknown
c.4893T>G; p.C1631W; 5:38944466-38944466	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.621A>G; p.G207G; 5:38981999-38981999	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2579G>A; p.G860D; 5:38955625-38955625	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3261C>A; p.F1087L; 5:38950587-38950587	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3967A>C; p.S1323R; 5:38949881-38949881	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4472A>C; p.E1491A; 5:38945652-38945652	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.781C>A; p.H261N; 5:38978623-38978623	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2649T>G; p.Y883*; 5:38954822-38954822	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Nonsense
c.4754C>T; p.S1585L; 5:38944948-38944948	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1262_1265delTTAG; p.V421fs*6; 5:38966675-38966678	liver	carcinoma	Deletion - Frameshift
c.1060+8T>C; p.?; 5:38967935-38967935	liver	carcinoma	Unknown
c.5102T>C; p.I1701T; 5:38942329-38942329	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2238C>A; p.F746L; 5:38958772-38958772	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1055G>T; p.S352I; 5:38967948-38967948	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2238C>A; p.F746L; 5:38958772-38958772	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2238C>A; p.F746L; 5:38958772-38958772	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3852G>A; p.S1284S; 5:38949996-38949996	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1528C>T; p.Q510*; 5:38962914-38962914	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.448G>C; p.V150L; 5:38996827-38996827	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2295G>T; p.T765T; 5:38958715-38958715	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2869A>T; p.K957*; 5:38953013-38953013	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1061-5delT; p.?; 5:38967432-38967432	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.4647T>C; p.I1549I; 5:38945055-38945055	liver	carcinoma	Substitution - coding silent
c.979C>G; p.L327V; 5:38968024-38968024	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2447C>T; p.S816F; 5:38957704-38957704	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Substitution - Missense
c.665G>A; p.R222Q; 5:38981955-38981955	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4421G>T; p.G1474V; 5:38945703-38945703	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2199A>T; p.T733T; 5:38958811-38958811	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.835G>T; p.A279S; 5:38975591-38975591	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1485C>T; p.D495D; 5:38962957-38962957	skin	malignant_melanoma	Substitution - coding silent
c.2164A>G; p.T722A; 5:38959209-38959209	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1409G>T; p.S470I; 5:38963033-38963033	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2164A>G; p.T722A; 5:38959209-38959209	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3405G>A; p.T1135T; 5:38950443-38950443	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2164A>G; p.T722A; 5:38959209-38959209	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3767G>T; p.S1256I; 5:38950081-38950081	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2023A>G; p.M675V; 5:38959807-38959807	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.573C>G; p.I191M; 5:38990959-38990959	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2906T>C; p.V969A; 5:38952417-38952417	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3302C>T; p.S1101L; 5:38950546-38950546	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3302C>T; p.S1101L; 5:38950546-38950546	skin	malignant_melanoma	Substitution - Missense
c.3302C>T; p.S1101L; 5:38950546-38950546	NS	malignant_melanoma	Substitution - Missense
c.3302C>T; p.S1101L; 5:38950546-38950546	skin	malignant_melanoma	Substitution - Missense
c.3302C>T; p.S1101L; 5:38950546-38950546	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2250G>A; p.W750*; 5:38958760-38958760	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1901T>C; p.L634P; 5:38959929-38959929	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.392+1G>A; p.?; 5:39002534-39002534	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.3827A>G; p.H1276R; 5:38950021-38950021	oesophagus	carcinoma	Substitution - Missense
c.2425C>T; p.L809F; 5:38957726-38957726	breast	carcinoma	Substitution - Missense
c.3694A>G; p.M1232V; 5:38950154-38950154	liver	carcinoma	Substitution - Missense
c.124C>T; p.L42F; 5:39021110-39021110	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4152A>G; p.L1384L; 5:38947426-38947426	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1419G>C; p.L473F; 5:38963023-38963023	skin	malignant_melanoma	Substitution - Missense
c.3308C>T; p.T1103I; 5:38950540-38950540	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1705C>T; p.Q569*; 5:38962325-38962325	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3989A>G; p.Y1330C; 5:38949859-38949859	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1354C>T; p.L452L; 5:38964838-38964838	skin	malignant_melanoma	Substitution - coding silent
c.4849C>A; p.L1617I; 5:38944510-38944510	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4860C>G; p.V1620V; 5:38944499-38944499	breast	carcinoma	Substitution - coding silent
c.1806G>A; p.T602T; 5:38960443-38960443	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1793C>T; p.A598V; 5:38960456-38960456	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4712C>T; p.S1571L; 5:38944990-38944990	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.2526G>A; p.L842L; 5:38955678-38955678	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1682_1683insA; p.N561fs*6; 5:38962347-38962348	lung	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2108C>T; p.S703F; 5:38959265-38959265	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2108C>T; p.S703F; 5:38959265-38959265	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4118C>T; p.S1373F; 5:38949730-38949730	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.50G>A; p.G17E; 5:39074158-39074158	skin; extremity	malignant_melanoma	Substitution - Missense
c.1283G>T; p.G428V; 5:38966657-38966657	liver	carcinoma	Substitution - Missense
c.2617C>T; p.R873C; 5:38954854-38954854	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1283G>T; p.G428V; 5:38966657-38966657	liver	carcinoma	Substitution - Missense
c.5083A>G; p.T1695A; 5:38942348-38942348	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2750G>C; p.W917S; 5:38953501-38953501	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2036G>C; p.C679S; 5:38959794-38959794	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2622T>C; p.P874P; 5:38954849-38954849	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.106G>A; p.D36N; 5:39021128-39021128	breast	carcinoma	Substitution - Missense
c.106G>A; p.D36N; 5:39021128-39021128	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.726G>A; p.Q242Q; 5:38981894-38981894	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2700T>C; p.N900N; 5:38953551-38953551	skin	malignant_melanoma	Substitution - coding silent
c.358G>T; p.V120L; 5:39002569-39002569	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2146A>T; p.I716F; 5:38959227-38959227	liver	carcinoma	Substitution - Missense
c.4214G>A; p.R1405Q; 5:38947364-38947364	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.233G>C; p.G78A; 5:39003585-39003585	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4117T>C; p.S1373P; 5:38949731-38949731	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3112G>T; p.E1038*; 5:38952211-38952211	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.4700C>T; p.P1567L; 5:38945002-38945002	skin; trunk	malignant_melanoma	Substitution - Missense
c.838C>T; p.R280*; 5:38975588-38975588	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1222C>G; p.L408V; 5:38966718-38966718	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3712C>T; p.R1238*; 5:38950136-38950136	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1219-1G>A; p.?; 5:38966722-38966722	lung	carcinoma; adenocarcinoma	Unknown
c.913G>A; p.G305R; 5:38971936-38971936	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.913G>A; p.G305R; 5:38971936-38971936	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2559T>C; p.T853T; 5:38955645-38955645	skin	malignant_melanoma	Substitution - coding silent
c.877C>T; p.R293*; 5:38975549-38975549	skin	malignant_melanoma	Substitution - Nonsense
c.1218+2T>A; p.?; 5:38967159-38967159	stomach	carcinoma; intestinal_adenocarcinoma	Unknown
c.2626G>A; p.V876I; 5:38954845-38954845	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3282G>C; p.V1094V; 5:38950566-38950566	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.734G>A; p.R245Q; 5:38981886-38981886	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2907A>G; p.V969V; 5:38952416-38952416	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.265C>T; p.R89W; 5:39002662-39002662	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2907A>G; p.V969V; 5:38952416-38952416	liver	carcinoma	Substitution - coding silent
c.2907A>G; p.V969V; 5:38952416-38952416	liver	carcinoma	Substitution - coding silent
c.4755A>C; p.S1585S; 5:38944947-38944947	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.4810G>A; p.D1604N; 5:38944549-38944549	breast	carcinoma	Substitution - Missense
c.848C>G; p.A283G; 5:38975578-38975578	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.317C>T; p.A106V; 5:39002610-39002610	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4897G>T; p.E1633*; 5:38944462-38944462	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3092C>G; p.S1031C; 5:38952231-38952231	liver	carcinoma	Substitution - Missense
c.3092C>G; p.S1031C; 5:38952231-38952231	liver	carcinoma	Substitution - Missense
c.4677C>T; p.I1559I; 5:38945025-38945025	skin	malignant_melanoma	Substitution - coding silent
c.4303G>A; p.D1435N; 5:38947275-38947275	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4303G>A; p.D1435N; 5:38947275-38947275	prostate	carcinoma	Substitution - Missense
c.172G>T; p.G58C; 5:39021062-39021062	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.474T>C; p.A158A; 5:38991058-38991058	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2024T>C; p.M675T; 5:38959806-38959806	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.3564T>G; p.N1188K; 5:38950284-38950284	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3797C>A; p.T1266K; 5:38950051-38950051	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3797C>A; p.T1266K; 5:38950051-38950051	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3797C>A; p.T1266K; 5:38950051-38950051	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3797C>A; p.T1266K; 5:38950051-38950051	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3797C>A; p.T1266K; 5:38950051-38950051	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3797C>A; p.T1266K; 5:38950051-38950051	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3797C>A; p.T1266K; 5:38950051-38950051	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3797C>A; p.T1266K; 5:38950051-38950051	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.330C>T; p.L110L; 5:39002597-39002597	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1415C>A; p.A472D; 5:38963027-38963027	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1459C>A; p.P487T; 5:38962983-38962983	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2969G>C; p.W990S; 5:38952354-38952354	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1626G>T; p.E542D; 5:38962527-38962527	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3868C>G; p.P1290A; 5:38949980-38949980	liver	carcinoma	Substitution - Missense
c.4019G>T; p.R1340I; 5:38949829-38949829	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.301G>A; p.A101T; 5:39002626-39002626	breast	carcinoma	Substitution - Missense
c.4311C>A; p.F1437L; 5:38947267-38947267	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3224G>A; p.R1075Q; 5:38950624-38950624	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4261T>C; p.S1421P; 5:38947317-38947317	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3795G>A; p.K1265K; 5:38950053-38950053	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.3404C>T; p.T1135M; 5:38950444-38950444	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4247C>T; p.A1416V; 5:38947331-38947331	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3848A>G; p.N1283S; 5:38950000-38950000	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.4826G>A; p.R1609H; 5:38944533-38944533	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4204A>C; p.T1402P; 5:38947374-38947374	breast	carcinoma	Substitution - Missense
c.2347A>T; p.N783Y; 5:38958516-38958516	adrenal_gland; adrenal_gland	adrenal_cortical_adenoma; aldosterone_producing	Substitution - Missense
c.4763G>T; p.S1588I; 5:38944939-38944939	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1007G>A; p.R336H; 5:38967996-38967996	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5114C>T; p.S1705F; 5:38942317-38942317	skin	malignant_melanoma	Substitution - Missense
c.3192C>T; p.I1064I; 5:38950656-38950656	skin	malignant_melanoma	Substitution - coding silent
c.463A>G; p.T155A; 5:38991069-38991069	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2660T>C; p.V887A; 5:38954811-38954811	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2099T>G; p.L700R; 5:38959274-38959274	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.2261T>C; p.L754S; 5:38958749-38958749	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4627C>T; p.H1543Y; 5:38945497-38945497	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.643G>T; p.V215L; 5:38981977-38981977	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4744C>T; p.Q1582*; 5:38944958-38944958	skin; ankle	malignant_melanoma; acral_lentiginous	Substitution - Nonsense
c.5003C>T; p.P1668L; 5:38942882-38942882	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4048G>T; p.A1350S; 5:38949800-38949800	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3551A>C; p.K1184T; 5:38950297-38950297	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4991C>T; p.T1664I; 5:38942894-38942894	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.4991C>T; p.T1664I; 5:38942894-38942894	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.361C>G; p.L121V; 5:39002566-39002566	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.4694T>C; p.V1565A; 5:38945008-38945008	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3135C>T; p.F1045F; 5:38950713-38950713	skin	malignant_melanoma	Substitution - coding silent
c.3851C>T; p.S1284L; 5:38949997-38949997	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3125C>T; p.S1042L; 5:38952198-38952198	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4228C>T; p.R1410W; 5:38947350-38947350	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3205G>C; p.E1069Q; 5:38950643-38950643	prostate	carcinoma	Substitution - Missense
c.1402C>T; p.R468*; 5:38963040-38963040	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3565T>G; p.F1189V; 5:38950283-38950283	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3329G>A; p.R1110H; 5:38950519-38950519	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2710G>T; p.E904*; 5:38953541-38953541	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3895A>G; p.R1299G; 5:38949953-38949953	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2453T>C; p.L818P; 5:38957698-38957698	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; essential_thrombocythaemia	Substitution - Missense
c.1114G>A; p.E372K; 5:38967374-38967374	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1114G>A; p.E372K; 5:38967374-38967374	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3184C>T; p.L1062F; 5:38950664-38950664	skin	malignant_melanoma	Substitution - Missense
c.1006C>T; p.R336C; 5:38967997-38967997	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1177G>A; p.A393T; 5:38967202-38967202	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3227C>T; p.S1076F; 5:38950621-38950621	skin	malignant_melanoma	Substitution - Missense
c.3974G>C; p.R1325T; 5:38949874-38949874	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.88C>G; p.L30V; 5:39074120-39074120	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4258G>T; p.G1420C; 5:38947320-38947320	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.390T>C; p.A130A; 5:39002537-39002537	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1351A>G; p.T451A; 5:38964841-38964841	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2750G>A; p.W917*; 5:38953501-38953501	ovary	carcinoma	Substitution - Nonsense
c.3194A>G; p.N1065S; 5:38950654-38950654	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.553C>T; p.R185*; 5:38990979-38990979	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.323G>A; p.R108Q; 5:39002604-39002604	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2743G>T; p.D915Y; 5:38953508-38953508	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4377A>T; p.R1459S; 5:38946490-38946490	prostate	carcinoma	Substitution - Missense
c.1437C>T; p.F479F; 5:38963005-38963005	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4742C>A; p.S1581Y; 5:38944960-38944960	liver	carcinoma	Substitution - Missense
c.4141A>G; p.M1381V; 5:38947437-38947437	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.718A>C; p.T240P; 5:38981902-38981902	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.4847T>C; p.V1616A; 5:38944512-38944512	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - Missense
c.133G>A; p.V45M; 5:39021101-39021101	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2665C>T; p.H889Y; 5:38954806-38954806	skin	malignant_melanoma	Substitution - Missense
c.2593C>T; p.R865C; 5:38955611-38955611	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2593C>T; p.R865C; 5:38955611-38955611	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.854A>C; p.K285T; 5:38975572-38975572	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1474C>G; p.L492V; 5:38962968-38962968	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2052-9_2052-8insT; p.?; 5:38959329-38959330	oesophagus	carcinoma; adenocarcinoma	Unknown
c.1363A>C; p.M455L; 5:38964829-38964829	ovary	other; neoplasm	Substitution - Missense
c.3999G>A; p.L1333L; 5:38949849-38949849	breast	carcinoma	Substitution - coding silent
c.2025G>A; p.M675I; 5:38959805-38959805	skin	malignant_melanoma	Substitution - Missense
c.722G>A; p.R241Q; 5:38981898-38981898	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2025G>A; p.M675I; 5:38959805-38959805	skin	malignant_melanoma	Substitution - Missense
c.995A>G; p.Y332C; 5:38968008-38968008	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4513G>A; p.E1505K; 5:38945611-38945611	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.722G>A; p.R241Q; 5:38981898-38981898	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4610T>G; p.L1537R; 5:38945514-38945514	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2510C>T; p.S837F; 5:38955694-38955694	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1536C>G; p.L512L; 5:38962906-38962906	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.754-6A>T; p.?; 5:38978656-38978656	pancreas	carcinoma	Unknown
c.4589G>A; p.G1530D; 5:38945535-38945535	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2620C>T; p.P874S; 5:38954851-38954851	breast	carcinoma; HER-positive_carcinoma	Substitution - Missense
c.2729G>A; p.R910H; 5:38953522-38953522	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3066A>G; p.L1022L; 5:38952257-38952257	breast	carcinoma	Substitution - coding silent
c.2179-1G>C; p.?; 5:38958832-38958832	breast	carcinoma; lobular_carcinoma	Unknown
c.302C>T; p.A101V; 5:39002625-39002625	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4185G>A; p.L1395L; 5:38947393-38947393	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.4185G>A; p.L1395L; 5:38947393-38947393	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3388C>T; p.R1130*; 5:38950460-38950460	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1883A>G; p.K628R; 5:38959947-38959947	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.4482T>A; p.N1494K; 5:38945642-38945642	pancreas	carcinoma	Substitution - Missense
c.3121C>T; p.P1041S; 5:38952202-38952202	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4220C>T; p.S1407F; 5:38947358-38947358	breast	carcinoma	Substitution - Missense
c.3251C>T; p.S1084L; 5:38950597-38950597	skin	malignant_melanoma	Substitution - Missense
c.3251C>T; p.S1084L; 5:38950597-38950597	skin	malignant_melanoma	Substitution - Missense
c.3251C>T; p.S1084L; 5:38950597-38950597	skin	malignant_melanoma	Substitution - Missense
c.1438C>T; p.H480Y; 5:38963004-38963004	skin	malignant_melanoma	Substitution - Missense
c.1807G>A; p.V603I; 5:38960442-38960442	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.839G>A; p.R280Q; 5:38975587-38975587	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.839G>A; p.R280Q; 5:38975587-38975587	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1711C>A; p.H571N; 5:38962319-38962319	lung	carcinoma; undifferentiated_carcinoma	Substitution - Missense
c.1962C>T; p.T654T; 5:38959868-38959868	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1538G>A; p.R513Q; 5:38962904-38962904	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4990A>G; p.T1664A; 5:38942895-38942895	skin	malignant_melanoma	Substitution - Missense
c.1927G>A; p.E643K; 5:38959903-38959903	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2388C>T; p.H796H; 5:38958475-38958475	skin	malignant_melanoma	Substitution - coding silent
c.1927G>A; p.E643K; 5:38959903-38959903	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4436C>A; p.S1479Y; 5:38945688-38945688	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1724G>A; p.R575Q; 5:38960525-38960525	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1511C>G; p.T504R; 5:38962931-38962931	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1818C>T; p.C606C; 5:38960431-38960431	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4465C>G; p.L1489V; 5:38945659-38945659	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2385C>T; p.S795S; 5:38958478-38958478	breast	carcinoma	Substitution - coding silent
c.358G>A; p.V120M; 5:39002569-39002569	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4217C>T; p.S1406F; 5:38947361-38947361	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation