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	273
Symbol	AMPH
Synonymous	AMPH1
Full name	amphiphysin
Gene description	amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)\|amphiphysin I
Cytoband	7p14-p13
Gene type	protein-coding
Synonymous	MIM:600418; HGNC:HGNC:471; Ensembl:ENSG00000078053; HPRD:02687; Vega:OTTHUMG00000023725

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.306T>G; p.C102W; 7:38491140-38491140	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.340G>A; p.V114M; 7:38491106-38491106	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.340G>A; p.V114M; 7:38491106-38491106	prostate	carcinoma	Substitution - Missense
c.340G>A; p.V114M; 7:38491106-38491106	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1017+1G>A; p.?; 7:38461282-38461282	liver	carcinoma	Unknown
c.1017+1G>A; p.?; 7:38461282-38461282	liver	carcinoma	Unknown
c.2020C>A; p.L674I; 7:38384886-38384886	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1017+1G>A; p.?; 7:38461282-38461282	liver	carcinoma	Unknown
c.1975G>C; p.D659H; 7:38389809-38389809	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.910C>T; p.P304S; 7:38461390-38461390	skin	malignant_melanoma	Substitution - Missense
c.1498C>T; p.P500S; 7:38394115-38394115	skin	malignant_melanoma	Substitution - Missense
c.138C>T; p.F46F; 7:38534943-38534943	skin	malignant_melanoma	Substitution - coding silent
c.714C>T; p.H238H; 7:38465502-38465502	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.714C>T; p.H238H; 7:38465502-38465502	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1030G>A; p.E344K; 7:38436376-38436376	urinary_tract; bladder	carcinoma	Substitution - Missense
c.336A>C; p.K112N; 7:38491110-38491110	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.363G>C; p.L121L; 7:38491083-38491083	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.205G>A; p.G69S; 7:38503650-38503650	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2028C>A; p.Y676*; 7:38384878-38384878	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1016A>T; p.Q339L; 7:38461284-38461284	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.526G>A; p.A176T; 7:38475395-38475395	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.218C>T; p.A73V; 7:38494515-38494515	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1505G>T; p.G502V; 7:38394108-38394108	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1650C>T; p.N550N; 7:38391976-38391976	skin	malignant_melanoma	Substitution - coding silent
c.1608G>A; p.Q536Q; 7:38394005-38394005	skin	malignant_melanoma	Substitution - coding silent
c.504G>T; p.K168N; 7:38476862-38476862	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1547C>T; p.T516I; 7:38394066-38394066	skin	malignant_melanoma	Substitution - Missense
c.1187C>T; p.S396F; 7:38426982-38426982	skin	malignant_melanoma	Substitution - Missense
c.336A>T; p.K112N; 7:38491110-38491110	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1182G>A; p.P394P; 7:38429842-38429842	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1875C>A; p.Y625*; 7:38391751-38391751	liver	carcinoma	Substitution - Nonsense
c.1157C>A; p.T386K; 7:38432190-38432190	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1875C>A; p.Y625*; 7:38391751-38391751	liver	carcinoma	Substitution - Nonsense
c.1537G>A; p.G513R; 7:38394076-38394076	skin	malignant_melanoma	Substitution - Missense
c.164G>A; p.R55K; 7:38503691-38503691	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1272+8G>T; p.?; 7:38422413-38422413	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.2077C>T; p.R693C; 7:38384829-38384829	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1270T>A; p.L424M; 7:38422423-38422423	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2077C>T; p.R693C; 7:38384829-38384829	breast	carcinoma	Substitution - Missense
c.732C>T; p.T244T; 7:38465484-38465484	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.894G>A; p.R298R; 7:38461406-38461406	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.783A>G; p.P261P; 7:38463080-38463080	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.773C>T; p.A258V; 7:38463090-38463090	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2007G>T; p.K669N; 7:38384899-38384899	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1840G>A; p.E614K; 7:38391786-38391786	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.553G>A; p.V185I; 7:38475368-38475368	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.553G>A; p.V185I; 7:38475368-38475368	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.239C>T; p.S80L; 7:38494494-38494494	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.239C>T; p.S80L; 7:38494494-38494494	skin	malignant_melanoma	Substitution - Missense
c.1820A>G; p.D607G; 7:38391806-38391806	urinary_tract; bladder	carcinoma	Substitution - Missense
c.413G>A; p.R138H; 7:38476953-38476953	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1720C>T; p.P574S; 7:38391906-38391906	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.757G>T; p.G253C; 7:38463106-38463106	liver	carcinoma	Substitution - Missense
c.1541C>A; p.T514N; 7:38394072-38394072	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1210A>G; p.T404A; 7:38426959-38426959	liver	carcinoma	Substitution - Missense
c.1907C>T; p.A636V; 7:38389877-38389877	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.415A>T; p.S139C; 7:38476951-38476951	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.585G>A; p.W195*; 7:38475336-38475336	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.412C>T; p.R138C; 7:38476954-38476954	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.84G>A; p.L28L; 7:38534997-38534997	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.118G>A; p.E40K; 7:38534963-38534963	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.118G>A; p.E40K; 7:38534963-38534963	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1363G>C; p.D455H; 7:38417860-38417860	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.118G>A; p.E40K; 7:38534963-38534963	skin	malignant_melanoma	Substitution - Missense
c.1528G>C; p.A510P; 7:38394085-38394085	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.115T>A; p.F39I; 7:38534966-38534966	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.210G>T; p.M70I; 7:38494523-38494523	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1504G>A; p.G502R; 7:38394109-38394109	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1688C>T; p.A563V; 7:38391938-38391938	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1737C>T; p.S579S; 7:38391889-38391889	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.385C>T; p.P129S; 7:38491061-38491061	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.954G>T; p.E318D; 7:38461346-38461346	pancreas	carcinoma	Substitution - Missense
c.385C>T; p.P129S; 7:38491061-38491061	skin	malignant_melanoma	Substitution - Missense
c.385C>T; p.P129S; 7:38491061-38491061	pancreas	carcinoma	Substitution - Missense
c.385C>T; p.P129S; 7:38491061-38491061	skin	malignant_melanoma	Substitution - Missense
c.1907C>A; p.A636E; 7:38389877-38389877	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.78A>G; p.Q26Q; 7:38535003-38535003	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1594G>T; p.A532S; 7:38394019-38394019	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1060C>T; p.L354L; 7:38436346-38436346	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.703G>C; p.G235R; 7:38465513-38465513	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1060C>T; p.L354L; 7:38436346-38436346	liver	carcinoma	Substitution - coding silent
c.1010C>A; p.P337H; 7:38461290-38461290	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1671C>T; p.N557N; 7:38391955-38391955	liver	carcinoma	Substitution - coding silent
c.1671C>T; p.N557N; 7:38391955-38391955	liver	carcinoma	Substitution - coding silent
c.1622C>T; p.P541L; 7:38392004-38392004	skin	malignant_melanoma	Substitution - Missense
c.592C>T; p.R198*; 7:38466247-38466247	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.128T>C; p.V43A; 7:38534953-38534953	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.75C>T; p.L25L; 7:38535006-38535006	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.898G>A; p.G300R; 7:38461402-38461402	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.209T>C; p.M70T; 7:38494524-38494524	pancreas	carcinoma	Substitution - Missense
c.209T>C; p.M70T; 7:38494524-38494524	pancreas	carcinoma	Substitution - Missense
c.1578A>G; p.E526E; 7:38394035-38394035	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1272+2T>C; p.?; 7:38422419-38422419	stomach	carcinoma; adenocarcinoma	Unknown
c.1408G>T; p.G470*; 7:38394205-38394205	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.300G>T; p.E100D; 7:38494433-38494433	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.263A>C; p.D88A; 7:38494470-38494470	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.798G>A; p.E266E; 7:38463065-38463065	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1071T>C; p.D357D; 7:38436335-38436335	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.151G>A; p.A51T; 7:38503704-38503704	pancreas	carcinoma	Substitution - Missense
c.1130C>T; p.S377F; 7:38436276-38436276	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.571T>G; p.L191V; 7:38475350-38475350	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.196G>A; p.A66T; 7:38503659-38503659	skin	malignant_melanoma	Substitution - Missense
c.764T>C; p.L255P; 7:38463099-38463099	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.988C>A; p.P330T; 7:38461312-38461312	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1125C>A; p.P375P; 7:38436281-38436281	pancreas	carcinoma	Substitution - coding silent
c.1146G>A; p.W382*; 7:38432201-38432201	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.1776G>A; p.Q592Q; 7:38391850-38391850	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1146G>A; p.W382*; 7:38432201-38432201	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1556G>A; p.G519D; 7:38394057-38394057	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.1146G>A; p.W382*; 7:38432201-38432201	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.1585G>A; p.E529K; 7:38394028-38394028	skin	malignant_melanoma	Substitution - Missense
c.473C>T; p.S158F; 7:38476893-38476893	skin	malignant_melanoma	Substitution - Missense
c.1463C>T; p.P488L; 7:38394150-38394150	skin; mucosal	malignant_melanoma	Substitution - Missense
c.2072C>A; p.T691N; 7:38384834-38384834	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.401G>A; p.R134H; 7:38476965-38476965	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.575C>T; p.P192L; 7:38475346-38475346	skin	malignant_melanoma	Substitution - Missense
c.2032G>C; p.D678H; 7:38384874-38384874	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.742G>A; p.A248T; 7:38465474-38465474	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1481C>T; p.A494V; 7:38394132-38394132	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1481C>T; p.A494V; 7:38394132-38394132	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2035C>A; p.L679I; 7:38384871-38384871	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1672G>A; p.E558K; 7:38391954-38391954	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1672G>A; p.E558K; 7:38391954-38391954	skin	malignant_melanoma	Substitution - Missense
c.274C>T; p.R92W; 7:38494459-38494459	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.870G>A; p.R290R; 7:38462993-38462993	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1482G>T; p.A494A; 7:38394131-38394131	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1182+7A>G; p.?; 7:38429835-38429835	liver	carcinoma	Unknown
c.1182+7A>G; p.?; 7:38429835-38429835	liver	carcinoma	Unknown
c.1152A>G; p.L384L; 7:38432195-38432195	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.662C>T; p.A221V; 7:38466177-38466177	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.662C>T; p.A221V; 7:38466177-38466177	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.782C>A; p.P261Q; 7:38463081-38463081	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.226A>C; p.K76Q; 7:38494507-38494507	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1376A>G; p.E459G; 7:38417847-38417847	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1599A>G; p.T533T; 7:38394014-38394014	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1154G>T; p.W385L; 7:38432193-38432193	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1154G>T; p.W385L; 7:38432193-38432193	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.939G>T; p.K313N; 7:38461361-38461361	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1791G>A; p.T597T; 7:38391835-38391835	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1483G>A; p.E495K; 7:38394130-38394130	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.388G>A; p.D130N; 7:38491058-38491058	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.292G>C; p.V98L; 7:38494441-38494441	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.810C>A; p.L270L; 7:38463053-38463053	breast	carcinoma	Substitution - coding silent
c.819G>A; p.P273P; 7:38463044-38463044	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1708G>A; p.E570K; 7:38391918-38391918	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.1708G>A; p.E570K; 7:38391918-38391918	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2062G>A; p.E688K; 7:38384844-38384844	skin	malignant_melanoma	Substitution - Missense
c.813G>A; p.P271P; 7:38463050-38463050	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.322G>T; p.D108Y; 7:38491124-38491124	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1059T>C; p.D353D; 7:38436347-38436347	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.458A>G; p.E153G; 7:38476908-38476908	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1562A>T; p.E521V; 7:38394051-38394051	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.458A>G; p.E153G; 7:38476908-38476908	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.1355T>A; p.L452H; 7:38417868-38417868	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1707C>T; p.T569T; 7:38391919-38391919	breast	carcinoma	Substitution - coding silent
c.183A>G; p.R61R; 7:38503672-38503672	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.262G>T; p.D88Y; 7:38494471-38494471	liver	carcinoma	Substitution - Missense
c.262G>T; p.D88Y; 7:38494471-38494471	liver	carcinoma	Substitution - Missense
c.81G>C; p.K27N; 7:38535000-38535000	liver	carcinoma	Substitution - Missense
c.596T>C; p.V199A; 7:38466243-38466243	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1698_1699GG>AA; p.E567K; 7:38391927-38391928	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1217C>A; p.P406H; 7:38422476-38422476	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.442G>T; p.A148S; 7:38476924-38476924	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1543G>A; p.E515K; 7:38394070-38394070	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.272G>A; p.G91E; 7:38494461-38494461	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.591-1G>A; p.?; 7:38466249-38466249	ovary	carcinoma; serous_carcinoma	Unknown
c.142C>T; p.R48W; 7:38534939-38534939	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.142C>T; p.R48W; 7:38534939-38534939	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.142C>T; p.R48W; 7:38534939-38534939	urinary_tract; bladder	carcinoma	Substitution - Missense
c.665T>A; p.V222E; 7:38466174-38466174	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1590C>T; p.L530L; 7:38394023-38394023	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.789G>A; p.P263P; 7:38463074-38463074	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2070C>T; p.F690F; 7:38384836-38384836	skin	malignant_melanoma	Substitution - coding silent
c.1158G>T; p.T386T; 7:38432189-38432189	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.789G>A; p.P263P; 7:38463074-38463074	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1746G>T; p.P582P; 7:38391880-38391880	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.852G>A; p.A284A; 7:38463011-38463011	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1159-1G>A; p.?; 7:38429866-38429866	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.852G>A; p.A284A; 7:38463011-38463011	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1041A>T; p.K347N; 7:38436365-38436365	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1638G>T; p.E546D; 7:38391988-38391988	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.565G>T; p.E189*; 7:38475356-38475356	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.185G>A; p.G62E; 7:38503670-38503670	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1018-1G>T; p.?; 7:38436389-38436389	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.973G>A; p.E325K; 7:38461327-38461327	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2055C>A; p.L685L; 7:38384851-38384851	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1157C>T; p.T386M; 7:38432190-38432190	liver	carcinoma	Substitution - Missense
c.1057G>A; p.D353N; 7:38436349-38436349	skin; nipple	malignant_melanoma	Substitution - Missense
c.818C>T; p.P273L; 7:38463045-38463045	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2050G>A; p.G684S; 7:38384856-38384856	skin	malignant_melanoma	Substitution - Missense
c.1253A>T; p.Q418L; 7:38422440-38422440	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.400C>T; p.R134C; 7:38476966-38476966	skin	malignant_melanoma	Substitution - Missense
c.1226C>T; p.T409I; 7:38422467-38422467	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.400C>T; p.R134C; 7:38476966-38476966	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.400C>T; p.R134C; 7:38476966-38476966	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1692G>A; p.E564E; 7:38391934-38391934	skin	malignant_melanoma	Substitution - coding silent
c.499T>C; p.S167P; 7:38476867-38476867	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.963C>T; p.I321I; 7:38461337-38461337	skin	malignant_melanoma	Substitution - coding silent
c.1699G>A; p.E567K; 7:38391927-38391927	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.793G>T; p.E265*; 7:38463070-38463070	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1759G>C; p.E587Q; 7:38391867-38391867	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.667-5C>G; p.?; 7:38465554-38465554	liver	carcinoma	Unknown
c.1915G>T; p.D639Y; 7:38389869-38389869	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.72C>A; p.V24V; 7:38535009-38535009	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.257A>T; p.E86V; 7:38494476-38494476	pancreas	carcinoma	Substitution - Missense
c.1985C>A; p.A662E; 7:38384921-38384921	oesophagus	carcinoma	Substitution - Missense
c.1617C>T; p.V539V; 7:38392009-38392009	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1801C>A; p.P601T; 7:38391825-38391825	breast	carcinoma	Substitution - Missense
c.868C>T; p.R290W; 7:38462995-38462995	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.1881G>A; p.V627V; 7:38389903-38389903	skin	malignant_melanoma	Substitution - coding silent
c.1801C>A; p.P601T; 7:38391825-38391825	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1487A>C; p.K496T; 7:38394126-38394126	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1487A>C; p.K496T; 7:38394126-38394126	thyroid	other; neoplasm	Substitution - Missense
c.868C>T; p.R290W; 7:38462995-38462995	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.547T>C; p.F183L; 7:38475374-38475374	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2012C>T; p.S671L; 7:38384894-38384894	skin	malignant_melanoma	Substitution - Missense
c.1490_1491CC>TT; p.A497V; 7:38394122-38394123	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1938T>G; p.G646G; 7:38389846-38389846	breast	carcinoma	Substitution - coding silent
c.1723C>T; p.P575S; 7:38391903-38391903	skin; trunk	malignant_melanoma	Substitution - Missense
c.2050_2051GG>AA; p.G684N; 7:38384855-38384856	skin	malignant_melanoma	Substitution - Missense
c.1548C>T; p.T516T; 7:38394065-38394065	skin	malignant_melanoma	Substitution - coding silent
c.446G>A; p.R149H; 7:38476920-38476920	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.291G>A; p.M97I; 7:38494442-38494442	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1548C>T; p.T516T; 7:38394065-38394065	skin	malignant_melanoma	Substitution - coding silent
c.1282G>A; p.E428K; 7:38417941-38417941	skin	malignant_melanoma	Substitution - Missense
c.173G>A; p.R58Q; 7:38503682-38503682	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - Missense
c.714C>G; p.H238Q; 7:38465502-38465502	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.251T>G; p.V84G; 7:38494482-38494482	NS	malignant_melanoma	Substitution - Missense
c.1916A>G; p.D639G; 7:38389868-38389868	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1535T>C; p.I512T; 7:38394078-38394078	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.247G>A; p.E83K; 7:38494486-38494486	skin	malignant_melanoma	Substitution - Missense
c.1027C>T; p.P343S; 7:38436379-38436379	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.251T>G; p.V84G; 7:38494482-38494482	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.1981-2A>C; p.?; 7:38384927-38384927	pancreas	carcinoma	Unknown
c.537G>C; p.V179V; 7:38475384-38475384	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1379A>G; p.E460G; 7:38417844-38417844	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.1077C>G; p.F359L; 7:38436329-38436329	breast	carcinoma	Substitution - Missense
c.1205G>A; p.G402E; 7:38426964-38426964	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1399-1G>C; p.?; 7:38394215-38394215	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.988C>G; p.P330A; 7:38461312-38461312	ovary	other; neoplasm	Substitution - Missense
c.109G>A; p.E37K; 7:38534972-38534972	skin	malignant_melanoma	Substitution - Missense
c.836A>G; p.H279R; 7:38463027-38463027	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.109G>A; p.E37K; 7:38534972-38534972	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1426G>A; p.A476T; 7:38394187-38394187	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1919A>G; p.E640G; 7:38389865-38389865	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2020C>T; p.L674F; 7:38384886-38384886	breast	carcinoma	Substitution - Missense
c.1030G>T; p.E344*; 7:38436376-38436376	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1391A>G; p.E464G; 7:38417832-38417832	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2050G>T; p.G684C; 7:38384856-38384856	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.969C>T; p.F323F; 7:38461331-38461331	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.859G>A; p.A287T; 7:38463004-38463004	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.248A>T; p.E83V; 7:38494485-38494485	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.859G>A; p.A287T; 7:38463004-38463004	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.859G>A; p.A287T; 7:38463004-38463004	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1148A>T; p.D383V; 7:38432199-38432199	breast	carcinoma	Substitution - Missense
c.1274C>T; p.A425V; 7:38417949-38417949	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.996C>T; p.I332I; 7:38461304-38461304	skin	malignant_melanoma	Substitution - coding silent
c.763C>T; p.L255F; 7:38463100-38463100	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1412C>T; p.A471V; 7:38394201-38394201	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.117C>T; p.F39F; 7:38534964-38534964	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.117C>T; p.F39F; 7:38534964-38534964	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.117C>T; p.F39F; 7:38534964-38534964	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.117C>T; p.F39F; 7:38534964-38534964	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.117C>T; p.F39F; 7:38534964-38534964	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.788C>T; p.P263L; 7:38463075-38463075	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.561A>G; p.L187L; 7:38475360-38475360	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.788C>T; p.P263L; 7:38463075-38463075	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.662C>G; p.A221G; 7:38466177-38466177	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.858C>A; p.P286P; 7:38463005-38463005	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.46C>T; p.R16*; 7:38631306-38631306	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1761G>A; p.E587E; 7:38391865-38391865	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.451C>T; p.H151Y; 7:38476915-38476915	skin; axilla	malignant_melanoma	Substitution - Missense
c.1459delG; p.A487fs*19; 7:38394154-38394154	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.874C>T; p.R292W; 7:38462989-38462989	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.874C>T; p.R292W; 7:38462989-38462989	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1591G>A; p.E531K; 7:38394022-38394022	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.874C>T; p.R292W; 7:38462989-38462989	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.874C>T; p.R292W; 7:38462989-38462989	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1713C>T; p.D571D; 7:38391913-38391913	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1455G>C; p.E485D; 7:38394158-38394158	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1713C>T; p.D571D; 7:38391913-38391913	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1917T>C; p.D639D; 7:38389867-38389867	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1996G>T; p.V666L; 7:38384910-38384910	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1836A>T; p.A612A; 7:38391790-38391790	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1460C>T; p.A487V; 7:38394153-38394153	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.406G>A; p.A136T; 7:38476960-38476960	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.406G>A; p.A136T; 7:38476960-38476960	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.745C>T; p.P249S; 7:38465471-38465471	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.339C>A; p.L113L; 7:38491107-38491107	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.277G>T; p.E93*; 7:38494456-38494456	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1715C>T; p.A572V; 7:38391911-38391911	breast	carcinoma	Substitution - Missense
c.1382C>T; p.P461L; 7:38417841-38417841	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2023C>T; p.Q675*; 7:38384883-38384883	skin	malignant_melanoma	Substitution - Nonsense
c.2023C>T; p.Q675*; 7:38384883-38384883	breast	carcinoma	Substitution - Nonsense
c.379C>G; p.Q127E; 7:38491067-38491067	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1130C>G; p.S377C; 7:38436276-38436276	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2050G>C; p.G684R; 7:38384856-38384856	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1121C>T; p.S374L; 7:38436285-38436285	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.655G>A; p.E219K; 7:38466184-38466184	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.862C>T; p.P288S; 7:38463001-38463001	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1527G>A; p.E509E; 7:38394086-38394086	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.172C>T; p.R58*; 7:38503683-38503683	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.172C>T; p.R58*; 7:38503683-38503683	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.350C>T; p.S117F; 7:38491096-38491096	skin; scalp	malignant_melanoma	Substitution - Missense
c.1195T>A; p.S399T; 7:38426974-38426974	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.498C>T; p.I166I; 7:38476868-38476868	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation