Entrez Gene

Basic Information
Gene ID	9271
Name	PIWIL1
Synonymous	piwi-like RNA-mediated gene silencing 1;PIWIL1;piwi-like RNA-mediated gene silencing 1
Definition	piwi homolog\|piwi-like protein 1
Position	12q24.33
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC confirmed somatic mutation [Top]

c.1332C>T; p.S444S; 12:130355595-130355595	bone; femur	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2071G>A; p.E691K; 12:130363020-130363020	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2412G>T; p.K804N; 12:130371266-130371266	breast	carcinoma	Substitution - Missense
c.1267C>T; p.R423*; 12:130354983-130354983	breast	carcinoma	Substitution - Nonsense
c.1057G>C; p.E353Q; 12:130354549-130354549	breast	carcinoma	Substitution - Missense
c.901A>G; p.K301E; 12:130349405-130349405	breast	carcinoma	Substitution - Missense
c.1736G>T; p.C579F; 12:130361250-130361250	breast	carcinoma	Substitution - Missense
c.41G>A; p.R14H; 12:130342632-130342632	breast	carcinoma	Substitution - Missense
c.23G>C; p.R8T; 12:130342614-130342614	breast	carcinoma	Substitution - Missense
c.1981C>T; p.R661C; 12:130362776-130362776	breast	carcinoma	Substitution - Missense
c.573G>A; p.V191V; 12:130346982-130346982	breast	carcinoma	Substitution - coding silent
c.2491C>G; p.P831A; 12:130371503-130371503	breast	carcinoma	Substitution - Missense
c.867G>A; p.Q289Q; 12:130349371-130349371	breast	carcinoma	Substitution - coding silent
c.953G>C; p.R318T; 12:130349876-130349876	breast	carcinoma	Substitution - Missense
c.100C>T; p.Q34*; 12:130343011-130343011	breast	carcinoma	Substitution - Nonsense
c.1130C>A; p.P377Q; 12:130354622-130354622	breast	carcinoma	Substitution - Missense
c.1006G>A; p.D336N; 12:130349929-130349929	breast	carcinoma	Substitution - Missense
c.68G>A; p.G23D; 12:130342659-130342659	breast	carcinoma	Substitution - Missense
c.1256G>A; p.R419H; 12:130354972-130354972	breast	carcinoma	Substitution - Missense
c.973G>A; p.D325N; 12:130349896-130349896	breast	carcinoma	Substitution - Missense
c.823C>T; p.R275*; 12:130349327-130349327	breast	carcinoma	Substitution - Nonsense
c.675G>T; p.L225F; 12:130348124-130348124	breast	carcinoma	Substitution - Missense
c.8G>A; p.G3E; 12:130342599-130342599	breast	carcinoma	Substitution - Missense
c.1108C>T; p.R370W; 12:130354600-130354600	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2112A>G; p.V704V; 12:130363061-130363061	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2112A>G; p.V704V; 12:130363061-130363061	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1505G>A; p.R502Q; 12:130357018-130357018	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1505G>A; p.R502Q; 12:130357018-130357018	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.834T>A; p.T278T; 12:130349338-130349338	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.834T>A; p.T278T; 12:130349338-130349338	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.371G>A; p.R124H; 12:130346424-130346424	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.653G>C; p.R218T; 12:130347062-130347062	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.112C>T; p.Q38*; 12:130343023-130343023	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2042C>T; p.A681V; 12:130362991-130362991	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2396A>G; p.D799G; 12:130371250-130371250	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1294G>A; p.D432N; 12:130355557-130355557	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1003G>A; p.A335T; 12:130349926-130349926	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1921C>T; p.R641W; 12:130361552-130361552	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.881A>C; p.K294T; 12:130349385-130349385	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.881A>C; p.K294T; 12:130349385-130349385	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.735-1G>T; p.?; 12:130349238-130349238	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.531G>T; p.K177N; 12:130346584-130346584	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1381A>C; p.K461Q; 12:130355644-130355644	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.689G>A; p.R230Q; 12:130348138-130348138	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.689G>A; p.R230Q; 12:130348138-130348138	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2021G>A; p.G674E; 12:130362816-130362816	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1894G>A; p.D632N; 12:130361525-130361525	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.987G>T; p.K329N; 12:130349910-130349910	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.460G>A; p.E154K; 12:130346513-130346513	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.304G>A; p.E102K; 12:130345866-130345866	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2381A>C; p.Y794S; 12:130371235-130371235	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1610G>T; p.R537I; 12:130357498-130357498	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.582G>A; p.T194T; 12:130346991-130346991	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1441G>T; p.E481*; 12:130356954-130356954	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1621T>C; p.Y541H; 12:130357509-130357509	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2041+8A>G; p.?; 12:130362844-130362844	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.975C>T; p.D325D; 12:130349898-130349898	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.317-9C>T; p.?; 12:130346361-130346361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.1088T>G; p.V363G; 12:130354580-130354580	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.1128G>A; p.L376L; 12:130354620-130354620	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1128G>A; p.L376L; 12:130354620-130354620	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1769C>A; p.T590N; 12:130361283-130361283	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2121C>T; p.G707G; 12:130363070-130363070	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1898G>T; p.C633F; 12:130361529-130361529	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2079G>A; p.M693I; 12:130363028-130363028	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1122G>T; p.G374G; 12:130354614-130354614	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1108C>T; p.R370W; 12:130354600-130354600	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1190G>A; p.R397H; 12:130354906-130354906	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.209G>A; p.G70E; 12:130345771-130345771	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1190G>A; p.R397H; 12:130354906-130354906	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1295A>G; p.D432G; 12:130355558-130355558	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.688C>T; p.R230*; 12:130348137-130348137	large_intestine; colon	adenoma	Substitution - Nonsense
c.1267C>T; p.R423*; 12:130354983-130354983	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.244C>T; p.R82C; 12:130345806-130345806	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1005C>T; p.A335A; 12:130349928-130349928	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.41G>A; p.R14H; 12:130342632-130342632	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.865C>T; p.Q289*; 12:130349369-130349369	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2157_2158insT; p.L721fs*9; 12:130363106-130363107	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1315C>T; p.R439*; 12:130355578-130355578	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2118C>T; p.D706D; 12:130363067-130363067	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.498G>A; p.T166T; 12:130346551-130346551	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.498G>A; p.T166T; 12:130346551-130346551	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1978T>C; p.S660P; 12:130362773-130362773	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2503G>A; p.A835T; 12:130371515-130371515	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2329delT; p.F778fs*3; 12:130371183-130371183	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2102G>A; p.R701H; 12:130363051-130363051	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.881A>C; p.K294T; 12:130349385-130349385	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1610G>A; p.R537K; 12:130357498-130357498	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1970G>A; p.R657H; 12:130361601-130361601	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.631T>C; p.F211L; 12:130347040-130347040	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.631T>C; p.F211L; 12:130347040-130347040	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.631T>C; p.F211L; 12:130347040-130347040	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1117G>T; p.G373W; 12:130354609-130354609	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1117G>T; p.G373W; 12:130354609-130354609	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.631T>C; p.F211L; 12:130347040-130347040	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.304G>T; p.E102*; 12:130345866-130345866	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1714delA; p.K573fs*19; 12:130361228-130361228	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.904G>T; p.E302*; 12:130349408-130349408	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1714delA; p.K573fs*19; 12:130361228-130361228	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1714delA; p.K573fs*19; 12:130361228-130361228	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.882A>C; p.K294N; 12:130349386-130349386	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.357C>A; p.F119L; 12:130346410-130346410	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1469T>C; p.V490A; 12:130356982-130356982	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1189C>T; p.R397C; 12:130354905-130354905	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.460G>A; p.E154K; 12:130346513-130346513	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1654G>T; p.D552Y; 12:130357542-130357542	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.373C>T; p.P125S; 12:130346426-130346426	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1625T>C; p.L542S; 12:130357513-130357513	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2474T>C; p.V825A; 12:130371486-130371486	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1782G>A; p.Q594Q; 12:130361296-130361296	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.312A>G; p.K104K; 12:130345874-130345874	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1593G>A; p.M531I; 12:130357481-130357481	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2150T>C; p.V717A; 12:130363099-130363099	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1213G>T; p.D405Y; 12:130354929-130354929	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.78+1G>A; p.?; 12:130342670-130342670	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1979C>T; p.S660L; 12:130362774-130362774	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2207C>T; p.T736M; 12:130367144-130367144	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1866+1G>A; p.?; 12:130361381-130361381	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2403C>T; p.S801S; 12:130371257-130371257	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1493T>C; p.L498S; 12:130357006-130357006	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.248G>A; p.R83H; 12:130345810-130345810	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2328_2329insT; p.I779fs*10; 12:130371182-130371183	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1386T>C; p.I462I; 12:130355649-130355649	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1386T>C; p.I462I; 12:130355649-130355649	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.950A>T; p.Y317F; 12:130349873-130349873	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2051G>T; p.R684M; 12:130363000-130363000	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1128G>A; p.L376L; 12:130354620-130354620	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.824G>A; p.R275Q; 12:130349328-130349328	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.824G>A; p.R275Q; 12:130349328-130349328	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.56C>T; p.A19V; 12:130342647-130342647	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1135C>A; p.P379T; 12:130354627-130354627	liver	carcinoma	Substitution - Missense
c.1135C>A; p.P379T; 12:130354627-130354627	liver	carcinoma	Substitution - Missense
c.932+3A>G; p.?; 12:130349439-130349439	liver	carcinoma	Unknown
c.1557A>C; p.T519T; 12:130357070-130357070	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.17G>A; p.R6Q; 12:130342608-130342608	liver	carcinoma	Substitution - Missense
c.56C>T; p.A19V; 12:130342647-130342647	liver	carcinoma	Substitution - Missense
c.56C>T; p.A19V; 12:130342647-130342647	liver	carcinoma	Substitution - Missense
c.56C>T; p.A19V; 12:130342647-130342647	liver	carcinoma	Substitution - Missense
c.185C>A; p.S62*; 12:130343096-130343096	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.477G>A; p.K159K; 12:130346530-130346530	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1322G>A; p.W441*; 12:130355585-130355585	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1566G>C; p.M522I; 12:130357079-130357079	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2343C>A; p.S781R; 12:130371197-130371197	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2155C>A; p.Q719K; 12:130363104-130363104	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2081C>A; p.P694H; 12:130363030-130363030	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.819_820CC>TT; p.V273>?; 12:130349323-130349324	lung	carcinoma; adenocarcinoma	Complex
c.490G>A; p.D164N; 12:130346543-130346543	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.82C>A; p.Q28K; 12:130342993-130342993	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.360G>A; p.R120R; 12:130346413-130346413	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1324G>T; p.G442C; 12:130355587-130355587	lung	carcinoma; mixed_small_cell_carcinoma-adenocarcinoma	Substitution - Missense
c.2203C>G; p.L735V; 12:130367140-130367140	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1714delA; p.K573fs*19; 12:130361228-130361228	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.357C>A; p.F119L; 12:130346410-130346410	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1771T>C; p.L591L; 12:130361285-130361285	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.121C>A; p.P41T; 12:130343032-130343032	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.754T>A; p.F252I; 12:130349258-130349258	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1864C>A; p.P622T; 12:130361378-130361378	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.448C>A; p.L150I; 12:130346501-130346501	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.100C>T; p.Q34*; 12:130343011-130343011	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1297A>G; p.N433D; 12:130355560-130355560	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1999A>G; p.R667G; 12:130362794-130362794	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1316G>A; p.R439Q; 12:130355579-130355579	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1628G>A; p.R543K; 12:130357516-130357516	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1320C>A; p.D440E; 12:130355583-130355583	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1101G>C; p.K367N; 12:130354593-130354593	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1515T>C; p.Y505Y; 12:130357028-130357028	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1821G>T; p.Q607H; 12:130361335-130361335	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1743C>A; p.T581T; 12:130361257-130361257	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1743C>A; p.T581T; 12:130361257-130361257	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1160G>T; p.C387F; 12:130354652-130354652	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.78C>T; p.A26A; 12:130342669-130342669	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.636T>A; p.Y212*; 12:130347045-130347045	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2528G>A; p.G843D; 12:130371540-130371540	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1263G>T; p.V421V; 12:130354979-130354979	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.15C>A; p.A5A; 12:130342606-130342606	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1054C>A; p.Q352K; 12:130354546-130354546	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.727A>T; p.S243C; 12:130348176-130348176	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1468G>T; p.V490F; 12:130356981-130356981	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2465G>A; p.W822*; 12:130371319-130371319	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2109C>T; p.G703G; 12:130363058-130363058	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1020C>A; p.V340V; 12:130349943-130349943	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2326G>T; p.D776Y; 12:130371180-130371180	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1816C>T; p.L606L; 12:130361330-130361330	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1302T>C; p.V434V; 12:130355565-130355565	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1704C>T; p.Y568Y; 12:130361218-130361218	oesophagus	carcinoma	Substitution - coding silent
c.1987A>G; p.I663V; 12:130362782-130362782	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2089A>C; p.I697L; 12:130363038-130363038	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2275C>T; p.P759S; 12:130367212-130367212	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.425C>T; p.A142V; 12:130346478-130346478	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1440A>G; p.K480K; 12:130356953-130356953	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.895G>T; p.V299F; 12:130349399-130349399	oesophagus	carcinoma	Substitution - Missense
c.2087G>A; p.R696Q; 12:130363036-130363036	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1065C>T; p.T355T; 12:130354557-130354557	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.449T>C; p.L150P; 12:130346502-130346502	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.805G>A; p.V269I; 12:130349309-130349309	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1922G>A; p.R641Q; 12:130361553-130361553	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.631T>A; p.F211I; 12:130347040-130347040	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1548T>A; p.F516L; 12:130357061-130357061	ovary	other; neoplasm	Substitution - Missense
c.797G>T; p.C266F; 12:130349301-130349301	ovary	other; neoplasm	Substitution - Missense
c.797G>T; p.C266F; 12:130349301-130349301	ovary	other; neoplasm	Substitution - Missense
c.1315C>G; p.R439G; 12:130355578-130355578	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1980A>C; p.S660S; 12:130362775-130362775	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.188A>G; p.Q63R; 12:130343099-130343099	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.2087G>A; p.R696Q; 12:130363036-130363036	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.2087G>A; p.R696Q; 12:130363036-130363036	pancreas	carcinoma	Substitution - Missense
c.2069A>G; p.N690S; 12:130363018-130363018	pancreas	carcinoma	Substitution - Missense
c.957G>A; p.V319V; 12:130349880-130349880	pancreas	carcinoma	Substitution - coding silent
c.730C>T; p.H244Y; 12:130348179-130348179	pancreas	carcinoid-endocrine_tumour	Substitution - Missense
c.2196-1G>A; p.?; 12:130367132-130367132	peritoneum; appendix	other; pseudomyxoma_peritonei	Unknown
c.944A>C; p.K315T; 12:130349867-130349867	pituitary; craniopharyngeal_duct	craniopharyngioma; adamantinomatous	Substitution - Missense
c.209G>A; p.G70E; 12:130345771-130345771	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1267C>T; p.R423*; 12:130354983-130354983	prostate	carcinoma; adenocarcinoma	Substitution - Nonsense
c.359G>A; p.R120Q; 12:130346412-130346412	prostate	carcinoma	Substitution - Missense
c.933-5C>A; p.?; 12:130349851-130349851	prostate	carcinoma	Unknown
c.1734T>G; p.D578E; 12:130361248-130361248	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2348C>T; p.A783V; 12:130371202-130371202	skin	malignant_melanoma	Substitution - Missense
c.1936G>A; p.G646R; 12:130361567-130361567	skin	malignant_melanoma	Substitution - Missense
c.556C>T; p.R186W; 12:130346965-130346965	skin	malignant_melanoma	Substitution - Missense
c.1323G>A; p.W441*; 12:130355586-130355586	skin	malignant_melanoma	Substitution - Nonsense
c.244C>T; p.R82C; 12:130345806-130345806	skin	malignant_melanoma	Substitution - Missense
c.1418C>T; p.P473L; 12:130356931-130356931	skin	malignant_melanoma	Substitution - Missense
c.214C>T; p.Q72*; 12:130345776-130345776	skin	malignant_melanoma	Substitution - Nonsense
c.484G>T; p.A162S; 12:130346537-130346537	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2146G>A; p.E716K; 12:130363095-130363095	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.982C>T; p.P328S; 12:130349905-130349905	skin	malignant_melanoma	Substitution - Missense
c.1364G>A; p.R455K; 12:130355627-130355627	skin	malignant_melanoma	Substitution - Missense
c.1923G>A; p.R641R; 12:130361554-130361554	skin	malignant_melanoma	Substitution - coding silent
c.1610G>A; p.R537K; 12:130357498-130357498	skin	malignant_melanoma	Substitution - Missense
c.2337C>T; p.I779I; 12:130371191-130371191	skin	malignant_melanoma	Substitution - coding silent
c.689G>A; p.R230Q; 12:130348138-130348138	skin	malignant_melanoma	Substitution - Missense
c.689G>A; p.R230Q; 12:130348138-130348138	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2521C>T; p.L841F; 12:130371533-130371533	skin	malignant_melanoma	Substitution - Missense
c.2521C>T; p.L841F; 12:130371533-130371533	skin	malignant_melanoma	Substitution - Missense
c.1961G>A; p.G654E; 12:130361592-130361592	skin	malignant_melanoma	Substitution - Missense
c.1505G>A; p.R502Q; 12:130357018-130357018	skin	malignant_melanoma	Substitution - Missense
c.599A>G; p.E200G; 12:130347008-130347008	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2398A>C; p.N800H; 12:130371252-130371252	skin	malignant_melanoma	Substitution - Missense
c.840G>A; p.L280L; 12:130349344-130349344	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.161G>A; p.G54E; 12:130343072-130343072	skin	malignant_melanoma	Substitution - Missense
c.161G>A; p.G54E; 12:130343072-130343072	skin	malignant_melanoma	Substitution - Missense
c.1824G>A; p.M608I; 12:130361338-130361338	skin	malignant_melanoma	Substitution - Missense
c.1383G>A; p.K461K; 12:130355646-130355646	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1285C>T; p.H429Y; 12:130355001-130355001	skin; trunk	malignant_melanoma	Substitution - Missense
c.2008G>A; p.E670K; 12:130362803-130362803	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1299T>G; p.N433K; 12:130355562-130355562	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2164G>A; p.D722N; 12:130363113-130363113	skin	malignant_melanoma	Substitution - Missense
c.2491C>T; p.P831S; 12:130371503-130371503	skin	malignant_melanoma	Substitution - Missense
c.435C>T; p.L145L; 12:130346488-130346488	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2479C>T; p.R827C; 12:130371491-130371491	skin	malignant_melanoma	Substitution - Missense
c.1040G>A; p.R347K; 12:130349963-130349963	skin	malignant_melanoma	Substitution - Missense
c.1758_1759GG>AA; p.V587M; 12:130361272-130361273	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.286A>C; p.N96H; 12:130345848-130345848	skin	malignant_melanoma	Substitution - Missense
c.17G>A; p.R6Q; 12:130342608-130342608	skin	malignant_melanoma	Substitution - Missense
c.31G>A; p.G11R; 12:130342622-130342622	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.598G>A; p.E200K; 12:130347007-130347007	skin	malignant_melanoma	Substitution - Missense
c.1597G>A; p.E533K; 12:130357485-130357485	skin	malignant_melanoma	Substitution - Missense
c.1732G>A; p.D578N; 12:130361246-130361246	skin	malignant_melanoma	Substitution - Missense
c.2257G>A; p.G753R; 12:130367194-130367194	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1884C>T; p.I628I; 12:130361515-130361515	skin	malignant_melanoma	Substitution - coding silent
c.607C>T; p.P203S; 12:130347016-130347016	skin; extremity	malignant_melanoma	Substitution - Missense
c.1436C>T; p.S479F; 12:130356949-130356949	skin	malignant_melanoma	Substitution - Missense
c.493G>T; p.G165*; 12:130346546-130346546	skin	malignant_melanoma	Substitution - Nonsense
c.1837G>A; p.G613R; 12:130361351-130361351	skin	malignant_melanoma	Substitution - Missense
c.2094C>T; p.I698I; 12:130363043-130363043	skin	malignant_melanoma	Substitution - coding silent
c.2094C>T; p.I698I; 12:130363043-130363043	skin	malignant_melanoma	Substitution - coding silent
c.841G>A; p.D281N; 12:130349345-130349345	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.886C>T; p.Q296*; 12:130349390-130349390	skin	malignant_melanoma	Substitution - Nonsense
c.1019T>C; p.V340A; 12:130349942-130349942	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1635A>G; p.L545L; 12:130357523-130357523	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1699A>G; p.K567E; 12:130361213-130361213	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2503G>T; p.A835S; 12:130371515-130371515	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2370T>G; p.S790S; 12:130371224-130371224	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1413C>A; p.Y471*; 12:130356926-130356926	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1933G>A; p.A645T; 12:130361564-130361564	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2101C>T; p.R701C; 12:130363050-130363050	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1408G>A; p.D470N; 12:130356921-130356921	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1128G>A; p.L376L; 12:130354620-130354620	thyroid	other; neoplasm	Substitution - coding silent
c.1394G>A; p.G465D; 12:130355657-130355657	urinary_tract; bladder	carcinoma	Substitution - Missense
c.285G>A; p.Q95Q; 12:130345847-130345847	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1921C>T; p.R641W; 12:130361552-130361552	urinary_tract; bladder	carcinoma	Substitution - Missense
c.224C>T; p.S75L; 12:130345786-130345786	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.224C>T; p.S75L; 12:130345786-130345786	urinary_tract; bladder	carcinoma	Substitution - Missense
c.989G>A; p.S330N; 12:130349912-130349912	urinary_tract; bladder	carcinoma	Substitution - Missense
c.389A>G; p.Y130C; 12:130346442-130346442	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.389A>G; p.Y130C; 12:130346442-130346442	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1139C>G; p.A380G; 12:130354631-130354631	urinary_tract; bladder	carcinoma	Substitution - Missense

Oncogene database

COSMIC confirmed somatic mutation [Top]

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