Entrez Gene

Basic Information
Gene ID	50807
Name	ASAP1
Synonymous	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1;ASAP1;ArfGAP with SH3 domain, ankyrin repeat and PH domain 1
Definition	130 kDa phosphatidylinositol 4,5-biphosphate-dependent ARF1 GTPase-activating protein\|130 kDa phosphatidylinositol 4,5-bisphosphate-dependent ARF1 GTPase-activating protein\|ADP-ribosylation factor-directed GTPase-activating protein 1\|ARF GTPase-activating
Position	8q24.1-q24.2
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.2518G>A; p.D840N; 8:130092027-130092027	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2160T>C; p.D720D; 8:130115640-130115640	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2160T>C; p.D720D; 8:130115640-130115640	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2160T>C; p.D720D; 8:130115640-130115640	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1902G>A; p.T634T; 8:130116974-130116974	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1524G>C; p.K508N; 8:130124096-130124096	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2838G>T; p.L946L; 8:130060933-130060933	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.610G>A; p.A204T; 8:130180801-130180801	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1518G>T; p.L506L; 8:130124102-130124102	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3287T>C; p.V1096A; 8:130057982-130057982	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2526C>A; p.P842P; 8:130092019-130092019	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2697G>A; p.Q899Q; 8:130076352-130076352	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.784A>T; p.K262*; 8:130169030-130169030	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.884C>T; p.S295F; 8:130167561-130167561	skin	malignant_melanoma	Substitution - Missense
c.2404_2405CC>TT; p.P802L; 8:130092140-130092141	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2868G>A; p.P956P; 8:130060903-130060903	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2245G>C; p.D749H; 8:130112250-130112250	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1192G>T; p.A398S; 8:130134321-130134321	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.59G>A; p.R20Q; 8:130401885-130401885	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.2838G>C; p.L946L; 8:130060933-130060933	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1093C>A; p.P365T; 8:130137026-130137026	central_nervous_system; brain	glioma	Substitution - Missense
c.348C>T; p.T116T; 8:130214613-130214613	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - coding silent
c.732C>T; p.Y244Y; 8:130179278-130179278	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1157A>G; p.D386G; 8:130136962-130136962	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2202C>T; p.P734P; 8:130112293-130112293	skin	malignant_melanoma	Substitution - coding silent
c.472G>A; p.V158I; 8:130188117-130188117	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2464C>T; p.L822L; 8:130092081-130092081	skin	malignant_melanoma	Substitution - coding silent
c.1043C>T; p.S348L; 8:130152773-130152773	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.346A>G; p.T116A; 8:130214615-130214615	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1870G>T; p.V624L; 8:130118171-130118171	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.36G>T; p.S12S; 8:130401908-130401908	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2567C>T; p.P856L; 8:130091978-130091978	skin	malignant_melanoma	Substitution - Missense
c.2567C>T; p.P856L; 8:130091978-130091978	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2100C>T; p.H700H; 8:130115700-130115700	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2397G>C; p.G799G; 8:130112098-130112098	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.222G>C; p.V74V; 8:130236959-130236959	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1009G>A; p.G337R; 8:130159865-130159865	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2395G>A; p.G799R; 8:130112100-130112100	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2750C>T; p.P917L; 8:130061021-130061021	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3340G>A; p.E1114K; 8:130054781-130054781	thyroid	carcinoma	Substitution - Missense
c.2125C>A; p.L709I; 8:130115675-130115675	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.716A>C; p.N239T; 8:130179294-130179294	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.727T>G; p.Y243D; 8:130179283-130179283	breast	carcinoma	Substitution - Missense
c.1227A>G; p.S409S; 8:130128081-130128081	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2560G>A; p.A854T; 8:130091985-130091985	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.966A>G; p.E322E; 8:130159908-130159908	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.26_27CC>AA; p.S9*; 8:130401917-130401918	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.130T>C; p.S44P; 8:130358073-130358073	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1625A>G; p.Y542C; 8:130118658-130118658	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1625A>G; p.Y542C; 8:130118658-130118658	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.880A>T; p.K294*; 8:130167565-130167565	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.378G>A; p.K126K; 8:130214583-130214583	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2931C>A; p.L977L; 8:130060840-130060840	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2839G>C; p.A947P; 8:130060932-130060932	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2163G>A; p.L721L; 8:130115637-130115637	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1997-2A>T; p.?; 8:130116747-130116747	lung	carcinoma; small_cell_carcinoma	Unknown
c.2994G>C; p.L998L; 8:130060777-130060777	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2163G>A; p.L721L; 8:130115637-130115637	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.1011-1G>T; p.?; 8:130152806-130152806	stomach	carcinoma; intestinal_adenocarcinoma	Unknown
c.3286G>T; p.V1096F; 8:130057983-130057983	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2811A>G; p.G937G; 8:130060960-130060960	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2375delC; p.P792fs*20; 8:130112120-130112120	pancreas	carcinoma; acinar_carcinoma	Deletion - Frameshift
c.2811A>G; p.G937G; 8:130060960-130060960	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2375delC; p.P792fs*20; 8:130112120-130112120	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3259A>G; p.T1087A; 8:130058010-130058010	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.33T>A; p.F11L; 8:130401911-130401911	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3103G>A; p.A1035T; 8:130060668-130060668	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2838_2839GG>CC; p.L946>?; 8:130060932-130060933	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Complex
c.1101G>A; p.K367K; 8:130137018-130137018	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.91A>G; p.I31V; 8:130358112-130358112	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.903G>C; p.Q301H; 8:130167542-130167542	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2840C>T; p.A947V; 8:130060931-130060931	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3119C>A; p.A1040E; 8:130060652-130060652	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2480C>A; p.P827H; 8:130092065-130092065	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3091C>T; p.Q1031*; 8:130060680-130060680	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2557G>T; p.G853C; 8:130091988-130091988	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.38C>T; p.S13L; 8:130401906-130401906	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.38C>T; p.S13L; 8:130401906-130401906	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.38C>T; p.S13L; 8:130401906-130401906	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.38C>T; p.S13L; 8:130401906-130401906	skin; trunk	malignant_melanoma	Substitution - Missense
c.1505C>T; p.S502F; 8:130125966-130125966	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.903G>A; p.Q301Q; 8:130167542-130167542	breast	carcinoma	Substitution - coding silent
c.1218-1G>A; p.?; 8:130128091-130128091	urinary_tract; bladder	carcinoma	Unknown
c.1177A>G; p.T393A; 8:130134336-130134336	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.271A>T; p.N91Y; 8:130214690-130214690	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3130T>A; p.S1044T; 8:130060641-130060641	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1652G>T; p.R551M; 8:130118631-130118631	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2486C>T; p.P829L; 8:130092059-130092059	skin	malignant_melanoma	Substitution - Missense
c.1191G>A; p.Q397Q; 8:130134322-130134322	ovary	other; neoplasm	Substitution - coding silent
c.334C>T; p.P112S; 8:130214627-130214627	liver	carcinoma	Substitution - Missense
c.1175G>C; p.R392T; 8:130134338-130134338	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1837G>T; p.D613Y; 8:130118204-130118204	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.432C>T; p.I144I; 8:130188157-130188157	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3144G>A; p.T1048T; 8:130060627-130060627	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1474C>T; p.Q492*; 8:130125997-130125997	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.2973C>A; p.P991P; 8:130060798-130060798	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1844C>G; p.T615R; 8:130118197-130118197	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1553T>A; p.I518N; 8:130124067-130124067	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2195G>A; p.R732H; 8:130112300-130112300	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.994C>T; p.L332L; 8:130159880-130159880	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2195G>A; p.R732H; 8:130112300-130112300	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1746C>G; p.V582V; 8:130118537-130118537	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.994C>T; p.L332L; 8:130159880-130159880	breast	carcinoma	Substitution - coding silent
c.518A>G; p.Y173C; 8:130187248-130187248	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2291G>A; p.R764Q; 8:130112204-130112204	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1266C>A; p.A422A; 8:130128042-130128042	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.359A>C; p.K120T; 8:130214602-130214602	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2496C>T; p.P832P; 8:130092049-130092049	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2497G>A; p.G833R; 8:130092048-130092048	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2496C>T; p.P832P; 8:130092049-130092049	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3189T>C; p.N1063N; 8:130060582-130060582	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2325C>T; p.F775F; 8:130112170-130112170	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2325C>T; p.F775F; 8:130112170-130112170	skin	malignant_melanoma	Substitution - coding silent
c.1475A>T; p.Q492L; 8:130125996-130125996	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.356T>A; p.V119D; 8:130214605-130214605	liver	carcinoma	Substitution - Missense
c.356T>A; p.V119D; 8:130214605-130214605	liver	carcinoma	Substitution - Missense
c.3164C>T; p.P1055L; 8:130060607-130060607	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1081-1G>A; p.?; 8:130137039-130137039	breast	carcinoma; basal_(triple-negative)_carcinoma	Unknown
c.1845A>G; p.T615T; 8:130118196-130118196	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2536C>T; p.P846S; 8:130092009-130092009	skin	malignant_melanoma	Substitution - Missense
c.796G>C; p.E266Q; 8:130169018-130169018	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3327C>T; p.I1109I; 8:130054794-130054794	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1315A>G; p.K439E; 8:130127993-130127993	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3104C>T; p.A1035V; 8:130060667-130060667	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1512C>A; p.L504L; 8:130125959-130125959	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2070C>G; p.S690S; 8:130115730-130115730	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2363C>T; p.T788M; 8:130112132-130112132	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2363C>T; p.T788M; 8:130112132-130112132	pancreas	carcinoma	Substitution - Missense
c.2363C>T; p.T788M; 8:130112132-130112132	pancreas	carcinoma	Substitution - Missense
c.2073G>C; p.Q691H; 8:130115727-130115727	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2322C>A; p.I774I; 8:130112173-130112173	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1823C>T; p.A608V; 8:130118218-130118218	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3159G>T; p.E1053D; 8:130060612-130060612	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2365G>A; p.E789K; 8:130112130-130112130	breast	carcinoma	Substitution - Missense
c.295C>A; p.L99I; 8:130214666-130214666	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1093C>T; p.P365S; 8:130137026-130137026	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1555A>G; p.M519V; 8:130124065-130124065	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2803C>G; p.P935A; 8:130060968-130060968	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1555A>G; p.M519V; 8:130124065-130124065	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2095C>T; p.P699S; 8:130115705-130115705	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2095C>T; p.P699S; 8:130115705-130115705	skin	malignant_melanoma	Substitution - Missense
c.2693C>A; p.P898H; 8:130076356-130076356	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2701G>A; p.V901M; 8:130076348-130076348	breast	carcinoma	Substitution - Missense
c.1658C>T; p.S553L; 8:130118625-130118625	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.43G>T; p.D15Y; 8:130401901-130401901	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.1041T>C; p.C347C; 8:130152775-130152775	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2336G>A; p.S779N; 8:130112159-130112159	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1852C>T; p.H618Y; 8:130118189-130118189	skin; trunk	malignant_melanoma	Substitution - Missense
c.1852C>T; p.H618Y; 8:130118189-130118189	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1155delT; p.F385fs*3; 8:130136964-130136964	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.1705G>C; p.E569Q; 8:130118578-130118578	breast	carcinoma	Substitution - Missense
c.351G>A; p.A117A; 8:130214610-130214610	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.137T>G; p.F46C; 8:130358066-130358066	central_nervous_system; brain	glioma	Substitution - Missense
c.2866C>T; p.P956S; 8:130060905-130060905	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2866C>T; p.P956S; 8:130060905-130060905	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2639C>T; p.S880L; 8:130079905-130079905	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2255C>T; p.A752V; 8:130112240-130112240	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.714G>T; p.Q238H; 8:130179296-130179296	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.632G>T; p.R211M; 8:130180779-130180779	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1499G>A; p.G500E; 8:130125972-130125972	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1881-1G>T; p.?; 8:130116996-130116996	lung	carcinoma; adenocarcinoma	Unknown
c.1472T>A; p.I491N; 8:130125999-130125999	skin	malignant_melanoma	Substitution - Missense
c.403C>G; p.L135V; 8:130214558-130214558	breast	carcinoma	Substitution - Missense
c.2987G>A; p.G996E; 8:130060784-130060784	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2182A>G; p.I728V; 8:130112313-130112313	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2182A>G; p.I728V; 8:130112313-130112313	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2516C>T; p.S839F; 8:130092029-130092029	skin	malignant_melanoma	Substitution - Missense
c.90C>A; p.F30L; 8:130358113-130358113	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3134A>G; p.N1045S; 8:130060637-130060637	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.823-6delT; p.?; 8:130167628-130167628	pancreas	carcinoma; adenocarcinoma	Unknown
c.2578G>T; p.D860Y; 8:130079966-130079966	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1297A>T; p.S433C; 8:130128011-130128011	skin	malignant_melanoma	Substitution - Missense
c.1771G>T; p.E591*; 8:130118512-130118512	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2377C>G; p.L793V; 8:130112118-130112118	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1365C>T; p.C455C; 8:130127943-130127943	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.350C>T; p.A117V; 8:130214611-130214611	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.350C>T; p.A117V; 8:130214611-130214611	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3165C>T; p.P1055P; 8:130060606-130060606	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1148A>G; p.K383R; 8:130136971-130136971	breast	carcinoma	Substitution - Missense
c.968A>G; p.Y323C; 8:130159906-130159906	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2096C>T; p.P699L; 8:130115704-130115704	skin	malignant_melanoma	Substitution - Missense
c.2569T>C; p.W857R; 8:130091976-130091976	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.574G>T; p.G192W; 8:130180837-130180837	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1306G>T; p.D436Y; 8:130128002-130128002	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1745T>G; p.V582G; 8:130118538-130118538	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2020C>A; p.L674I; 8:130116722-130116722	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2128C>T; p.R710*; 8:130115672-130115672	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2128C>T; p.R710*; 8:130115672-130115672	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2128C>T; p.R710*; 8:130115672-130115672	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1151C>A; p.S384Y; 8:130136968-130136968	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2755G>A; p.E919K; 8:130061016-130061016	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1271G>A; p.R424H; 8:130128037-130128037	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.297T>C; p.L99L; 8:130214664-130214664	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2950C>G; p.P984A; 8:130060821-130060821	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.314delA; p.N105fs*3; 8:130214647-130214647	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.2412C>T; p.G804G; 8:130092133-130092133	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.559C>T; p.H187Y; 8:130180852-130180852	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.194A>G; p.D65G; 8:130236987-130236987	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3136G>A; p.D1046N; 8:130060635-130060635	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.497T>A; p.F166Y; 8:130187269-130187269	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.497T>A; p.F166Y; 8:130187269-130187269	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.251C>A; p.S84Y; 8:130236930-130236930	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.497T>A; p.F166Y; 8:130187269-130187269	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1169-7_1169-6insT; p.?; 8:130134350-130134351	stomach	adenocarcinoma	Unknown
c.3131C>T; p.S1044F; 8:130060640-130060640	skin	malignant_melanoma	Substitution - Missense
c.1701G>C; p.L567F; 8:130118582-130118582	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.489G>C; p.K163N; 8:130187277-130187277	breast	carcinoma	Substitution - Missense
c.2964C>T; p.D988D; 8:130060807-130060807	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2628A>G; p.L876L; 8:130079916-130079916	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.187-2A>T; p.?; 8:130236996-130236996	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Unknown
c.187-2A>T; p.?; 8:130236996-130236996	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Unknown
c.2559C>T; p.G853G; 8:130091986-130091986	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3192G>A; p.T1064T; 8:130060579-130060579	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2558G>A; p.G853D; 8:130091987-130091987	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2766G>A; p.Q922Q; 8:130061005-130061005	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1603_1604GA>TG; p.D535C; 8:130124016-130124017	skin	malignant_melanoma	Substitution - Missense
c.1887C>A; p.N629K; 8:130116989-130116989	ovary	other; neoplasm	Substitution - Missense
c.1887C>A; p.N629K; 8:130116989-130116989	ovary	other; neoplasm	Substitution - Missense
c.1311G>C; p.L437L; 8:130127997-130127997	breast	carcinoma	Substitution - coding silent
c.1251G>A; p.E417E; 8:130128057-130128057	skin	malignant_melanoma	Substitution - coding silent
c.1705G>A; p.E569K; 8:130118578-130118578	breast	carcinoma	Substitution - Missense
c.1382-9T>G; p.?; 8:130126098-130126098	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.1251G>A; p.E417E; 8:130128057-130128057	skin	malignant_melanoma	Substitution - coding silent
c.1357A>T; p.I453F; 8:130127951-130127951	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1357A>T; p.I453F; 8:130127951-130127951	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1357A>T; p.I453F; 8:130127951-130127951	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3286G>A; p.V1096I; 8:130057983-130057983	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1035G>T; p.R345S; 8:130152781-130152781	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2894A>C; p.K965T; 8:130060877-130060877	skin	malignant_melanoma	Substitution - Missense
c.3305A>G; p.Q1102R; 8:130057964-130057964	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2934A>G; p.S978S; 8:130060837-130060837	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1934G>C; p.S645T; 8:130116942-130116942	ovary	other; neoplasm	Substitution - Missense
c.2159A>G; p.D720G; 8:130115641-130115641	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2159A>G; p.D720G; 8:130115641-130115641	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2625A>G; p.G875G; 8:130079919-130079919	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3287T>A; p.V1096D; 8:130057982-130057982	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3287T>A; p.V1096D; 8:130057982-130057982	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3209G>T; p.R1070M; 8:130058060-130058060	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1786C>T; p.P596S; 8:130118497-130118497	skin; trunk	malignant_melanoma	Substitution - Missense

COSMIC somatic mutation [Top]