Entrez Gene

Basic Information
Gene ID	5976
Name	UPF1
Synonymous	UPF1 regulator of nonsense transcripts homolog (yeast);UPF1;UPF1 regulator of nonsense transcripts homolog (yeast)
Definition	ATP-dependent helicase RENT1\|delta helicase\|nonsense mRNA reducing factor 1\|regulator of nonsense transcripts 1\|smg-2 homolog, nonsense mediated mRNA decay factor\|up-frameshift mutation 1 homolog\|up-frameshift suppressor 1 homolog\|yeast Upf1p homolog
Position	19p13.11
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.2010G>C; p.V670V; 19:18857361-18857361	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1869G>A; p.P623P; 19:18856921-18856921	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1802C>A; p.T601N; 19:18856278-18856278	breast	carcinoma	Substitution - Missense
c.1242G>A; p.V414V; 19:18854686-18854686	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1163G>A; p.G388D; 19:18854607-18854607	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1178T>C; p.I393T; 19:18854622-18854622	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1955T>C; p.L652P; 19:18857007-18857007	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2495G>A; p.R832H; 19:18862047-18862047	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2028C>T; p.A676A; 19:18857379-18857379	skin	malignant_melanoma	Substitution - coding silent
c.1748A>G; p.E583G; 19:18856224-18856224	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3057A>G; p.G1019G; 19:18865598-18865598	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1174G>A; p.A392T; 19:18854618-18854618	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1308G>A; p.S436S; 19:18854921-18854921	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.141C>T; p.P47P; 19:18832350-18832350	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.315C>G; p.F105L; 19:18846063-18846063	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1679C>T; p.A560V; 19:18856059-18856059	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.894C>T; p.D298D; 19:18852218-18852218	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.894C>T; p.D298D; 19:18852218-18852218	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.894C>T; p.D298D; 19:18852218-18852218	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2226C>T; p.P742P; 19:18860364-18860364	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2212C>T; p.Q738*; 19:18860350-18860350	skin	malignant_melanoma	Substitution - Nonsense
c.1265G>A; p.R422K; 19:18854709-18854709	skin	malignant_melanoma	Substitution - Missense
c.1180G>A; p.E394K; 19:18854624-18854624	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2338T>C; p.L780L; 19:18860863-18860863	skin	malignant_melanoma	Substitution - coding silent
c.2950C>T; p.P984S; 19:18865381-18865381	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2101C>T; p.Q701*; 19:18857452-18857452	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2151C>T; p.Y717Y; 19:18857502-18857502	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2201G>C; p.G734A; 19:18860339-18860339	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.391_392CC>TT; p.P131F; 19:18847763-18847764	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1385G>A; p.R462H; 19:18854998-18854998	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1385G>A; p.R462H; 19:18854998-18854998	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1385G>A; p.R462H; 19:18854998-18854998	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2573G>A; p.R858H; 19:18862125-18862125	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2628G>A; p.P876P; 19:18863465-18863465	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2783G>A; p.R928H; 19:18864177-18864177	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2783G>A; p.R928H; 19:18864177-18864177	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1212G>T; p.E404D; 19:18854656-18854656	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1073A>T; p.Q358L; 19:18853267-18853267	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1665G>T; p.P555P; 19:18856045-18856045	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1610C>T; p.T537M; 19:18855990-18855990	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1610C>T; p.T537M; 19:18855990-18855990	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2069T>G; p.V690G; 19:18857420-18857420	skin	malignant_melanoma	Substitution - Missense
c.2494C>T; p.R832C; 19:18862046-18862046	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2254C>T; p.Q752*; 19:18860392-18860392	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2241C>T; p.F747F; 19:18860379-18860379	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2241C>T; p.F747F; 19:18860379-18860379	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.909G>T; p.Q303H; 19:18852233-18852233	liver	carcinoma	Substitution - Missense
c.2798C>T; p.A933V; 19:18864192-18864192	liver	carcinoma	Substitution - Missense
c.1725G>A; p.Q575Q; 19:18856201-18856201	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1806_1807delAG; p.E605fs*17; 19:18856282-18856283	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1806_1807delAG; p.E605fs*17; 19:18856282-18856283	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1794G>A; p.L598L; 19:18856270-18856270	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.3030C>T; p.T1010T; 19:18865571-18865571	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1927G>T; p.E643*; 19:18856979-18856979	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.1168G>T; p.E390*; 19:18854612-18854612	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1657G>A; p.D553N; 19:18856037-18856037	pancreas	carcinoma	Substitution - Missense
c.2783G>T; p.R928L; 19:18864177-18864177	breast	carcinoma	Substitution - Missense
c.3079C>T; p.L1027F; 19:18865620-18865620	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1068C>T; p.L356L; 19:18853262-18853262	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.60delG; p.A21fs*73; 19:18832269-18832269	haematopoietic_and_lymphoid_tissue; abdomen	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Deletion - Frameshift
c.1565C>T; p.P522L; 19:18855945-18855945	skin	malignant_melanoma	Substitution - Missense
c.2613C>A; p.I871I; 19:18863450-18863450	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3246C>T; p.Y1082Y; 19:18866052-18866052	skin	malignant_melanoma	Substitution - coding silent
c.3224C>A; p.P1075Q; 19:18865765-18865765	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1286C>T; p.T429M; 19:18854899-18854899	central_nervous_system; medulla	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1286C>T; p.T429M; 19:18854899-18854899	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1286C>T; p.T429M; 19:18854899-18854899	breast	carcinoma	Substitution - Missense
c.1787G>A; p.R596Q; 19:18856263-18856263	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3012T>C; p.P1004P; 19:18865443-18865443	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3012T>C; p.P1004P; 19:18865443-18865443	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2437C>A; p.L813M; 19:18860962-18860962	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.138G>A; p.T46T; 19:18832347-18832347	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.138G>A; p.T46T; 19:18832347-18832347	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1478C>T; p.P493L; 19:18855176-18855176	liver	carcinoma	Substitution - Missense
c.1478C>T; p.P493L; 19:18855176-18855176	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1478C>T; p.P493L; 19:18855176-18855176	liver	carcinoma	Substitution - Missense
c.621G>T; p.L207L; 19:18850234-18850234	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2055C>T; p.F685F; 19:18857406-18857406	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.2055C>T; p.F685F; 19:18857406-18857406	pancreas	carcinoma	Substitution - coding silent
c.3277G>A; p.V1093M; 19:18866083-18866083	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2055C>T; p.F685F; 19:18857406-18857406	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3247C>A; p.L1083I; 19:18866053-18866053	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1276G>A; p.A426T; 19:18854889-18854889	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.858C>T; p.D286D; 19:18852182-18852182	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - coding silent
c.3100A>G; p.N1034D; 19:18865641-18865641	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2607C>T; p.G869G; 19:18863444-18863444	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1480C>A; p.P494T; 19:18855178-18855178	thyroid	other; neoplasm	Substitution - Missense
c.442C>T; p.R148C; 19:18847814-18847814	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.582C>T; p.L194L; 19:18850195-18850195	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2168A>G; p.N723S; 19:18857519-18857519	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2830G>T; p.G944C; 19:18864224-18864224	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3059G>A; p.R1020H; 19:18865600-18865600	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2857+1G>A; p.?; 19:18864252-18864252	skin	malignant_melanoma	Unknown
c.2358G>A; p.K786K; 19:18860883-18860883	skin	malignant_melanoma	Substitution - coding silent
c.2905A>C; p.I969L; 19:18865336-18865336	liver	carcinoma	Substitution - Missense
c.2905A>C; p.I969L; 19:18865336-18865336	liver	carcinoma	Substitution - Missense
c.1607A>G; p.Q536R; 19:18855987-18855987	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3135G>A; p.A1045A; 19:18865676-18865676	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1774G>A; p.E592K; 19:18856250-18856250	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3313C>T; p.R1105W; 19:18866119-18866119	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.491A>G; p.K164R; 19:18850104-18850104	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1909G>A; p.E637K; 19:18856961-18856961	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1909G>A; p.E637K; 19:18856961-18856961	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.2912C>T; p.A971V; 19:18865343-18865343	skin	malignant_melanoma	Substitution - Missense
c.336C>A; p.T112T; 19:18846084-18846084	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2018_2019AG>TA; p.K673I; 19:18857369-18857370	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2662C>T; p.L888L; 19:18863499-18863499	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.99C>T; p.F33F; 19:18832308-18832308	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2662C>T; p.L888L; 19:18863499-18863499	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.3134C>T; p.A1045V; 19:18865675-18865675	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1281G>A; p.L427L; 19:18854894-18854894	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1635C>T; p.C545C; 19:18856015-18856015	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.1635C>T; p.C545C; 19:18856015-18856015	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1384C>T; p.R462C; 19:18854997-18854997	breast	carcinoma	Substitution - Missense
c.1173C>T; p.I391I; 19:18854617-18854617	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1173C>T; p.I391I; 19:18854617-18854617	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1877C>T; p.A626V; 19:18856929-18856929	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2527C>T; p.R843W; 19:18862079-18862079	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3052delG; p.G1019fs*36; 19:18865593-18865593	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.94G>C; p.E32Q; 19:18832303-18832303	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1804G>A; p.A602T; 19:18856280-18856280	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1804G>A; p.A602T; 19:18856280-18856280	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1850G>A; p.C617Y; 19:18856902-18856902	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.142C>T; p.P48S; 19:18832351-18832351	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2402C>T; p.S801F; 19:18860927-18860927	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.138_139insC; p.G49fs*54; 19:18832347-18832348	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2483C>T; p.A828V; 19:18862035-18862035	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2109G>C; p.R703R; 19:18857460-18857460	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.529G>A; p.G177R; 19:18850142-18850142	skin	malignant_melanoma	Substitution - Missense
c.258C>T; p.N86N; 19:18846006-18846006	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2673C>T; p.Y891Y; 19:18863510-18863510	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1446G>T; p.V482V; 19:18855144-18855144	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2089C>T; p.R697C; 19:18857440-18857440	central_nervous_system; brain	glioma	Substitution - Missense
c.1709G>T; p.S570I; 19:18856089-18856089	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1891C>T; p.R631C; 19:18856943-18856943	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1170G>T; p.E390D; 19:18854614-18854614	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1927G>A; p.E643K; 19:18856979-18856979	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.372-2A>T; p.?; 19:18847742-18847742	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.1491G>A; p.G497G; 19:18855189-18855189	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.372-2A>T; p.?; 19:18847742-18847742	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.1165G>A; p.D389N; 19:18854609-18854609	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.816C>T; p.N272N; 19:18852140-18852140	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1153G>C; p.D385H; 19:18853347-18853347	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1720C>T; p.L574L; 19:18856196-18856196	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.446G>A; p.G149E; 19:18847818-18847818	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1112C>T; p.A371V; 19:18853306-18853306	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1905C>T; p.I635I; 19:18856957-18856957	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2263G>A; p.E755K; 19:18860401-18860401	skin	malignant_melanoma	Substitution - Missense
c.1908C>T; p.D636D; 19:18856960-18856960	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.487G>A; p.A163T; 19:18850100-18850100	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2090G>A; p.R697H; 19:18857441-18857441	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2207A>T; p.D736V; 19:18860345-18860345	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1274G>T; p.S425I; 19:18854887-18854887	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.763C>T; p.R255C; 19:18850821-18850821	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2188C>T; p.R730C; 19:18860326-18860326	skin	malignant_melanoma	Substitution - Missense
c.1177A>G; p.I393V; 19:18854621-18854621	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.949G>A; p.D317N; 19:18852273-18852273	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1356C>T; p.D452D; 19:18854969-18854969	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2987G>A; p.G996D; 19:18865418-18865418	thyroid	carcinoma; anaplastic_carcinoma	Substitution - Missense
c.1352A>C; p.E451A; 19:18854965-18854965	pancreas	carcinoma	Substitution - Missense
c.534G>A; p.E178E; 19:18850147-18850147	breast	carcinoma	Substitution - coding silent
c.63C>T; p.A21A; 19:18832272-18832272	skin	malignant_melanoma	Substitution - coding silent
c.1210G>A; p.E404K; 19:18854654-18854654	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2627C>T; p.P876L; 19:18863464-18863464	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3214C>A; p.L1072I; 19:18865755-18865755	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.10G>A; p.E4K; 19:18832219-18832219	skin	malignant_melanoma	Substitution - Missense
c.2785T>C; p.F929L; 19:18864179-18864179	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.828G>A; p.T276T; 19:18852152-18852152	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.478C>A; p.L160I; 19:18850091-18850091	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.400G>A; p.V134M; 19:18847772-18847772	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.538G>A; p.V180I; 19:18850151-18850151	thyroid	carcinoma	Substitution - Missense
c.1027G>A; p.A343T; 19:18853041-18853041	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2288C>T; p.S763F; 19:18860426-18860426	skin	malignant_melanoma	Substitution - Missense
c.1027G>A; p.A343T; 19:18853041-18853041	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2402_2403CC>TT; p.S801F; 19:18860927-18860928	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3049C>T; p.R1017C; 19:18865590-18865590	skin	malignant_melanoma	Substitution - Missense
c.595G>A; p.A199T; 19:18850208-18850208	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.237G>T; p.G79G; 19:18845985-18845985	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1530C>T; p.A510A; 19:18855228-18855228	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.498A>T; p.K166N; 19:18850111-18850111	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.498A>T; p.K166N; 19:18850111-18850111	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3175A>G; p.I1059V; 19:18865716-18865716	meninges	meningioma	Substitution - Missense
c.1640A>T; p.K547M; 19:18856020-18856020	pancreas	carcinoma	Substitution - Missense
c.209C>G; p.A70G; 19:18832418-18832418	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1026C>T; p.I342I; 19:18853040-18853040	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3019+9C>T; p.?; 19:18865459-18865459	ovary	other; neoplasm	Unknown
c.2242T>G; p.F748V; 19:18860380-18860380	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2858-9G>A; p.?; 19:18865280-18865280	kidney	other; neoplasm	Unknown
c.854T>C; p.V285A; 19:18852178-18852178	large_intestine; colon	NS	Substitution - Missense
c.925C>G; p.L309V; 19:18852249-18852249	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1017G>A; p.K339K; 19:18853031-18853031	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2497G>C; p.E833Q; 19:18862049-18862049	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.544G>T; p.E182*; 19:18850157-18850157	skin	malignant_melanoma	Substitution - Nonsense
c.2676T>C; p.Y892Y; 19:18863513-18863513	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2407C>A; p.L803M; 19:18860932-18860932	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2399G>A; p.R800H; 19:18860924-18860924	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2399G>A; p.R800H; 19:18860924-18860924	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2080C>T; p.R694W; 19:18857431-18857431	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2399G>A; p.R800H; 19:18860924-18860924	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense

COSMIC somatic mutation [Top]