Entrez Gene

Basic Information
Gene ID	2122
Name	MECOM
Synonymous	MDS1 and EVI1 complex locus;MECOM;MDS1 and EVI1 complex locus
Definition	AML1-EVI-1 fusion protein\|MDS1 and EVI1 complex locus protein EVI1\|MDS1 and EVI1 complex locus protein MDS1\|ecotropic virus integration site 1 protein homolog\|myelodysplasia syndrome-associated protein 1\|oncogene EVI1\|zinc finger protein Evi1
Position	3q26.2
Gene Type	protein-coding

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

c.2285G>T; p.R762I; 3:169100885-169100885	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1124G>A; p.R375K; 3:169116184-169116184	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1124G>A; p.R375K; 3:169116184-169116184	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.2855A>G; p.Y952C; 3:169089166-169089166	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1788T>C; p.S596S; 3:169115520-169115520	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1120G>A; p.E374K; 3:169116188-169116188	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1821C>A; p.H607Q; 3:169115487-169115487	bone	osteosarcoma	Substitution - Missense
c.1316A>C; p.Q439P; 3:169115992-169115992	breast	carcinoma	Substitution - Missense
c.1663G>C; p.D555H; 3:169115645-169115645	breast	carcinoma	Substitution - Missense
c.1364T>A; p.I455N; 3:169115944-169115944	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.64C>T; p.R22C; 3:169128046-169128046	breast	carcinoma	Substitution - Missense
c.589T>C; p.Y197H; 3:169116719-169116719	breast	carcinoma	Substitution - Missense
c.515C>T; p.S172L; 3:169121109-169121109	breast	carcinoma	Substitution - Missense
c.3117G>A; p.A1039A; 3:169084948-169084948	breast	carcinoma	Substitution - coding silent
c.2080_2087delTTCAGTGC; p.F694fs*4; 3:169102180-169102187	breast	carcinoma	Deletion - Frameshift
c.1395G>A; p.A465A; 3:169115913-169115913	breast	carcinoma	Substitution - coding silent
c.2289C>T; p.C763C; 3:169095242-169095242	breast	carcinoma	Substitution - coding silent
c.1499C>A; p.A500D; 3:169115809-169115809	breast	carcinoma	Substitution - Missense
c.2658C>T; p.D886D; 3:169090179-169090179	breast	carcinoma	Substitution - coding silent
c.1227G>A; p.S409S; 3:169116081-169116081	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.9C>T; p.S3S; 3:169131469-169131469	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.928G>A; p.G310S; 3:169116380-169116380	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.928G>A; p.G310S; 3:169116380-169116380	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2782G>A; p.D928N; 3:169090055-169090055	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2585G>A; p.R862K; 3:169092973-169092973	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2585G>A; p.R862K; 3:169092973-169092973	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.686C>T; p.T229M; 3:169116622-169116622	central_nervous_system; brain	glioma	Substitution - Missense
c.911C>T; p.P304L; 3:169116397-169116397	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.443G>A; p.R148Q; 3:169121181-169121181	central_nervous_system; brain	glioma	Substitution - Missense
c.1848C>T; p.N616N; 3:169115460-169115460	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.69C>T; p.C23C; 3:169128041-169128041	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.34G>A; p.A12T; 3:169131444-169131444	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.504G>A; p.T168T; 3:169121120-169121120	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1587G>A; p.S529S; 3:169115721-169115721	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.503C>T; p.T168M; 3:169121121-169121121	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2672A>G; p.E891G; 3:169090165-169090165	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.358C>T; p.R120C; 3:169122636-169122636	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.613C>G; p.R205G; 3:169116695-169116695	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.537G>A; p.K179K; 3:169121087-169121087	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1851C>T; p.V617V; 3:169115457-169115457	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1585T>C; p.S529P; 3:169115723-169115723	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2996C>T; p.P999L; 3:169089025-169089025	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2249G>A; p.R750Q; 3:169100921-169100921	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2249G>A; p.R750Q; 3:169100921-169100921	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2249G>A; p.R750Q; 3:169100921-169100921	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1961C>A; p.A654D; 3:169112839-169112839	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.686C>G; p.T229R; 3:169116622-169116622	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.622C>T; p.R208C; 3:169116686-169116686	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2232G>A; p.R744R; 3:169100938-169100938	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.613C>A; p.R205S; 3:169116695-169116695	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.613C>A; p.R205S; 3:169116695-169116695	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.613C>A; p.R205S; 3:169116695-169116695	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2425C>T; p.L809L; 3:169095106-169095106	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.431G>T; p.S144I; 3:169121193-169121193	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2062G>A; p.A688T; 3:169102205-169102205	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1555A>G; p.M519V; 3:169115753-169115753	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.3031A>G; p.M1011V; 3:169085034-169085034	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1678C>T; p.R560*; 3:169115630-169115630	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Nonsense
c.2932C>A; p.Q978K; 3:169089089-169089089	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.981A>G; p.L327L; 3:169116327-169116327	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; polycythaemia_vera	Substitution - coding silent
c.154T>G; p.S52A; 3:169127956-169127956	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2612G>A; p.S871N; 3:169090225-169090225	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.2996C>T; p.P999L; 3:169089025-169089025	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.791A>C; p.D264A; 3:169116517-169116517	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.2087C>T; p.A696V; 3:169102180-169102180	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2524G>A; p.A842T; 3:169093034-169093034	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1408G>T; p.V470L; 3:169115900-169115900	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1290G>T; p.M430I; 3:169116018-169116018	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3057G>A; p.E1019E; 3:169085008-169085008	kidney	other; neoplasm	Substitution - coding silent
c.1434T>C; p.A478A; 3:169115874-169115874	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.3095G>A; p.W1032*; 3:169084970-169084970	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1226C>T; p.S409L; 3:169116082-169116082	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.753delT; p.F251fs*21; 3:169116555-169116555	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2535A>C; p.T845T; 3:169093023-169093023	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.753delT; p.F251fs*21; 3:169116555-169116555	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3120G>A; p.A1040A; 3:169084945-169084945	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.686delC; p.T229fs*4; 3:169116622-169116622	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1173T>C; p.S391S; 3:169116135-169116135	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2604G>A; p.M868I; 3:169090233-169090233	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1536delT; p.P513fs*15; 3:169115772-169115772	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1536delT; p.P513fs*15; 3:169115772-169115772	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2286-1G>T; p.?; 3:169095246-169095246	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.928G>A; p.G310S; 3:169116380-169116380	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2782G>A; p.D928N; 3:169090055-169090055	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2449A>G; p.M817V; 3:169095082-169095082	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.14A>T; p.D5V; 3:169131464-169131464	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2341C>T; p.R781C; 3:169095190-169095190	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2341C>T; p.R781C; 3:169095190-169095190	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.10G>A; p.E4K; 3:169131468-169131468	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1288A>G; p.M430V; 3:169116020-169116020	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.358C>T; p.R120C; 3:169122636-169122636	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.51A>C; p.E17D; 3:169128059-169128059	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1113C>T; p.L371L; 3:169116195-169116195	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.218C>T; p.T73M; 3:169127892-169127892	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.641G>T; p.R214I; 3:169116667-169116667	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1865C>A; p.A622D; 3:169115443-169115443	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2201C>T; p.T734I; 3:169102066-169102066	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1865C>A; p.A622D; 3:169115443-169115443	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2784T>C; p.D928D; 3:169090053-169090053	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1839delA; p.G614fs*30; 3:169115469-169115469	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1839delA; p.G614fs*30; 3:169115469-169115469	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1839delA; p.G614fs*30; 3:169115469-169115469	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1839delA; p.G614fs*30; 3:169115469-169115469	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1839delA; p.G614fs*30; 3:169115469-169115469	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1839delA; p.G614fs*30; 3:169115469-169115469	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1839delA; p.G614fs*30; 3:169115469-169115469	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1839delA; p.G614fs*30; 3:169115469-169115469	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1839delA; p.G614fs*30; 3:169115469-169115469	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1839delA; p.G614fs*30; 3:169115469-169115469	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1839delA; p.G614fs*30; 3:169115469-169115469	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1839delA; p.G614fs*30; 3:169115469-169115469	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1491_1492insA; p.V498fs*27; 3:169115816-169115817	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2933A>C; p.Q978P; 3:169089088-169089088	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.301_302delAG; p.R101fs*5; 3:169122692-169122693	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.443G>A; p.R148Q; 3:169121181-169121181	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1395G>T; p.A465A; 3:169115913-169115913	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.709_711delAGG; p.R237delR; 3:169116597-169116599	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.515C>T; p.S172L; 3:169121109-169121109	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2832A>G; p.P944P; 3:169090005-169090005	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.886G>A; p.A296T; 3:169116422-169116422	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.613C>T; p.R205C; 3:169116695-169116695	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1806G>A; p.E602E; 3:169115502-169115502	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.536_537insCACAA; p.K179fs*9; 3:169121087-169121088	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1223C>T; p.T408I; 3:169116085-169116085	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.359G>A; p.R120H; 3:169122635-169122635	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2542C>T; p.R848*; 3:169093016-169093016	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1832_1833insG; p.G614fs*37; 3:169115475-169115476	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1165_1168delTCAG; p.S389fs*46; 3:169116140-169116143	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2614C>T; p.H872Y; 3:169090223-169090223	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1621G>T; p.E541*; 3:169115687-169115687	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.807T>A; p.V269V; 3:169116501-169116501	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1002_1005delCAAA; p.N334fs*7; 3:169116303-169116306	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2133G>A; p.M711I; 3:169102134-169102134	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1819C>T; p.H607Y; 3:169115489-169115489	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.360C>T; p.R120R; 3:169122634-169122634	liver	carcinoma	Substitution - coding silent
c.360C>T; p.R120R; 3:169122634-169122634	liver	carcinoma	Substitution - coding silent
c.1511C>A; p.P504H; 3:169115797-169115797	liver	carcinoma	Substitution - Missense
c.1511C>A; p.P504H; 3:169115797-169115797	liver	carcinoma	Substitution - Missense
c.744T>A; p.G248G; 3:169116564-169116564	liver	carcinoma	Substitution - coding silent
c.1283G>T; p.G428V; 3:169116025-169116025	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1613C>T; p.S538L; 3:169115695-169115695	liver	carcinoma	Substitution - Missense
c.1613C>T; p.S538L; 3:169115695-169115695	liver	carcinoma	Substitution - Missense
c.1817delA; p.N606fs*38; 3:169115491-169115491	liver	carcinoma	Deletion - Frameshift
c.573G>A; p.E191E; 3:169116735-169116735	liver	carcinoma	Substitution - coding silent
c.3029C>T; p.A1010V; 3:169085036-169085036	liver	carcinoma	Substitution - Missense
c.1333A>C; p.N445H; 3:169115975-169115975	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1089A>T; p.V363V; 3:169116219-169116219	liver	carcinoma	Substitution - coding silent
c.274A>G; p.K92E; 3:169122720-169122720	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1147G>A; p.E383K; 3:169116161-169116161	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.789G>T; p.M263I; 3:169116519-169116519	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.10G>A; p.E4K; 3:169131468-169131468	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.568T>G; p.C190G; 3:169121056-169121056	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1065G>T; p.K355N; 3:169116243-169116243	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.835G>T; p.A279S; 3:169116473-169116473	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1851C>A; p.V617V; 3:169115457-169115457	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.39G>A; p.P13P; 3:169131439-169131439	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.163G>A; p.E55K; 3:169127947-169127947	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2751G>T; p.V917V; 3:169090086-169090086	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1795A>C; p.K599Q; 3:169115513-169115513	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.805G>A; p.V269I; 3:169116503-169116503	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.2804C>T; p.A935V; 3:169090033-169090033	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1461A>T; p.S487S; 3:169115847-169115847	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1518G>T; p.M506I; 3:169115790-169115790	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2037T>C; p.T679T; 3:169107929-169107929	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2091G>A; p.L697L; 3:169102176-169102176	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1980G>T; p.L660F; 3:169112820-169112820	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1982G>T; p.R661M; 3:169112818-169112818	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2014-2A>T; p.?; 3:169107954-169107954	lung	carcinoma; adenocarcinoma	Unknown
c.2543G>T; p.R848L; 3:169093015-169093015	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.614G>T; p.R205L; 3:169116694-169116694	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2559C>G; p.N853K; 3:169092999-169092999	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3156+5A>G; p.?; 3:169084904-169084904	lung	carcinoma; non_small_cell_carcinoma	Unknown
c.855T>C; p.N285N; 3:169116453-169116453	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2145G>T; p.R715S; 3:169102122-169102122	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.157A>G; p.M53V; 3:169127953-169127953	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2442T>A; p.N814K; 3:169095089-169095089	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1947T>C; p.T649T; 3:169112853-169112853	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1159G>T; p.D387Y; 3:169116149-169116149	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.569-2A>T; p.?; 3:169116741-169116741	lung	carcinoma; small_cell_carcinoma	Unknown
c.569-2A>T; p.?; 3:169116741-169116741	lung	carcinoma; small_cell_carcinoma	Unknown
c.2752A>G; p.T918A; 3:169090085-169090085	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2070G>A; p.K690K; 3:169102197-169102197	NS	malignant_melanoma	Substitution - coding silent
c.2070G>A; p.K690K; 3:169102197-169102197	NS	malignant_melanoma	Substitution - coding silent
c.776G>C; p.G259A; 3:169116532-169116532	NS	NS	Substitution - Missense
c.266+1G>C; p.?; 3:169127843-169127843	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Unknown
c.1839delA; p.G614fs*30; 3:169115469-169115469	oesophagus	carcinoma; adenocarcinoma	Deletion - Frameshift
c.759A>T; p.Q253H; 3:169116549-169116549	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2469G>A; p.S823S; 3:169093089-169093089	oesophagus	carcinoma	Substitution - coding silent
c.983C>T; p.S328L; 3:169116325-169116325	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.860A>T; p.H287L; 3:169116448-169116448	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2411A>G; p.N804S; 3:169095120-169095120	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2131A>G; p.M711V; 3:169102136-169102136	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.914G>C; p.G305A; 3:169116394-169116394	pancreas	carcinoma	Substitution - Missense
c.2249G>A; p.R750Q; 3:169100921-169100921	pancreas	carcinoma	Substitution - Missense
c.2249G>A; p.R750Q; 3:169100921-169100921	pancreas	carcinoma	Substitution - Missense
c.2249G>A; p.R750Q; 3:169100921-169100921	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.675G>T; p.M225I; 3:169116633-169116633	pancreas	NS	Substitution - Missense
c.1197A>G; p.T399T; 3:169116111-169116111	pancreas	carcinoma	Substitution - coding silent
c.738G>C; p.A246A; 3:169116570-169116570	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.333A>G; p.A111A; 3:169122661-169122661	prostate	carcinoma	Substitution - coding silent
c.2180G>A; p.R727Q; 3:169102087-169102087	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2180G>A; p.R727Q; 3:169102087-169102087	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2730delA; p.T912fs*6; 3:169090107-169090107	prostate	carcinoma; adenocarcinoma	Deletion - Frameshift
c.707G>A; p.R236K; 3:169116601-169116601	prostate	carcinoma	Substitution - Missense
c.2468C>T; p.S823L; 3:169093090-169093090	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.718G>A; p.E240K; 3:169116590-169116590	skin	malignant_melanoma	Substitution - Missense
c.2550C>T; p.F850F; 3:169093008-169093008	skin	malignant_melanoma	Substitution - coding silent
c.2550C>T; p.F850F; 3:169093008-169093008	skin	malignant_melanoma	Substitution - coding silent
c.2550C>T; p.F850F; 3:169093008-169093008	skin	malignant_melanoma	Substitution - coding silent
c.2550C>T; p.F850F; 3:169093008-169093008	skin	malignant_melanoma	Substitution - coding silent
c.977G>A; p.G326E; 3:169116331-169116331	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.128C>T; p.P43L; 3:169127982-169127982	skin	malignant_melanoma	Substitution - Missense
c.253C>T; p.P85S; 3:169127857-169127857	skin	malignant_melanoma	Substitution - Missense
c.253C>T; p.P85S; 3:169127857-169127857	skin	malignant_melanoma	Substitution - Missense
c.1679G>A; p.R560Q; 3:169115629-169115629	skin	malignant_melanoma	Substitution - Missense
c.2626G>A; p.E876K; 3:169090211-169090211	skin; shoulder	malignant_melanoma	Substitution - Missense
c.1679G>A; p.R560Q; 3:169115629-169115629	skin	malignant_melanoma	Substitution - Missense
c.1636C>A; p.Q546K; 3:169115672-169115672	skin	malignant_melanoma	Substitution - Missense
c.2437G>A; p.E813K; 3:169095094-169095094	skin	malignant_melanoma	Substitution - Missense
c.899C>T; p.S300F; 3:169116409-169116409	skin	malignant_melanoma	Substitution - Missense
c.2186G>A; p.G729E; 3:169102081-169102081	skin	malignant_melanoma	Substitution - Missense
c.2186G>A; p.G729E; 3:169102081-169102081	skin	malignant_melanoma	Substitution - Missense
c.965C>T; p.S322F; 3:169116343-169116343	skin	malignant_melanoma	Substitution - Missense
c.965C>T; p.S322F; 3:169116343-169116343	skin	malignant_melanoma	Substitution - Missense
c.1119C>T; p.P373P; 3:169116189-169116189	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2668G>A; p.D890N; 3:169090169-169090169	skin	malignant_melanoma	Substitution - Missense
c.1183G>A; p.D395N; 3:169116125-169116125	skin	malignant_melanoma	Substitution - Missense
c.922C>T; p.P308S; 3:169116386-169116386	skin	malignant_melanoma	Substitution - Missense
c.922C>T; p.P308S; 3:169116386-169116386	skin	malignant_melanoma	Substitution - Missense
c.922C>T; p.P308S; 3:169116386-169116386	skin	malignant_melanoma	Substitution - Missense
c.2191G>A; p.E731K; 3:169102076-169102076	skin	malignant_melanoma	Substitution - Missense
c.2227C>T; p.P743S; 3:169100943-169100943	skin	malignant_melanoma	Substitution - Missense
c.2502G>A; p.A834A; 3:169093056-169093056	skin	malignant_melanoma	Substitution - coding silent
c.219G>A; p.T73T; 3:169127891-169127891	skin	malignant_melanoma	Substitution - coding silent
c.1811G>A; p.R604Q; 3:169115497-169115497	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2923G>A; p.E975K; 3:169089098-169089098	skin	malignant_melanoma	Substitution - Missense
c.1708C>T; p.P570S; 3:169115600-169115600	skin	malignant_melanoma	Substitution - Missense
c.2118G>A; p.Q706Q; 3:169102149-169102149	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.743G>A; p.G248D; 3:169116565-169116565	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.518C>T; p.S173L; 3:169121106-169121106	skin	malignant_melanoma	Substitution - Missense
c.2743G>A; p.E915K; 3:169090094-169090094	skin	malignant_melanoma	Substitution - Missense
c.431G>A; p.S144N; 3:169121193-169121193	skin	malignant_melanoma	Substitution - Missense
c.1877C>T; p.S626F; 3:169115431-169115431	skin	malignant_melanoma	Substitution - Missense
c.923C>T; p.P308L; 3:169116385-169116385	skin	malignant_melanoma	Substitution - Missense
c.2915G>A; p.R972K; 3:169089106-169089106	skin	malignant_melanoma	Substitution - Missense
c.2742G>A; p.K914K; 3:169090095-169090095	skin	malignant_melanoma	Substitution - coding silent
c.2112C>T; p.L704L; 3:169102155-169102155	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2249_2250GG>AA; p.R750Q; 3:169100920-169100921	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1567C>T; p.P523S; 3:169115741-169115741	skin	malignant_melanoma	Substitution - Missense
c.746G>A; p.G249E; 3:169116562-169116562	skin	malignant_melanoma	Substitution - Missense
c.3143T>C; p.I1048T; 3:169084922-169084922	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2359G>A; p.E787K; 3:169095172-169095172	skin	malignant_melanoma	Substitution - Missense
c.3086C>T; p.S1029F; 3:169084979-169084979	skin	malignant_melanoma	Substitution - Missense
c.64C>T; p.R22C; 3:169128046-169128046	skin; arm	malignant_melanoma	Substitution - Missense
c.2386G>A; p.D796N; 3:169095145-169095145	skin	malignant_melanoma	Substitution - Missense
c.2738G>A; p.G913E; 3:169090099-169090099	skin	malignant_melanoma	Substitution - Missense
c.20_21CC>TT; p.P7>?; 3:169131457-169131458	skin; trunk	malignant_melanoma	Complex
c.1602G>A; p.M534I; 3:169115706-169115706	skin	malignant_melanoma	Substitution - Missense
c.2353A>G; p.N785D; 3:169095178-169095178	skin	malignant_melanoma	Substitution - Missense
c.3064C>T; p.H1022Y; 3:169085001-169085001	skin	malignant_melanoma	Substitution - Missense
c.1841G>A; p.G614E; 3:169115467-169115467	skin	malignant_melanoma	Substitution - Missense
c.1841G>A; p.G614E; 3:169115467-169115467	skin	malignant_melanoma	Substitution - Missense
c.1841G>A; p.G614E; 3:169115467-169115467	skin	malignant_melanoma	Substitution - Missense
c.1841G>A; p.G614E; 3:169115467-169115467	skin; upper_arm	malignant_melanoma	Substitution - Missense
c.515C>T; p.S172L; 3:169121109-169121109	skin	malignant_melanoma	Substitution - Missense
c.515C>T; p.S172L; 3:169121109-169121109	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1092G>A; p.G364G; 3:169116216-169116216	skin	malignant_melanoma	Substitution - coding silent
c.1092G>A; p.G364G; 3:169116216-169116216	skin	malignant_melanoma	Substitution - coding silent
c.1523C>T; p.P508L; 3:169115785-169115785	skin	malignant_melanoma	Substitution - Missense
c.1657C>T; p.P553S; 3:169115651-169115651	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1852G>A; p.E618K; 3:169115456-169115456	skin	malignant_melanoma	Substitution - Missense
c.1852G>A; p.E618K; 3:169115456-169115456	skin	malignant_melanoma	Substitution - Missense
c.2420G>A; p.R807K; 3:169095111-169095111	skin	malignant_melanoma	Substitution - Missense
c.2120C>T; p.S707L; 3:169102147-169102147	skin	malignant_melanoma	Substitution - Missense
c.1852G>A; p.E618K; 3:169115456-169115456	skin	malignant_melanoma	Substitution - Missense
c.1900C>T; p.P634S; 3:169115408-169115408	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1258G>A; p.D420N; 3:169116050-169116050	skin	malignant_melanoma	Substitution - Missense
c.197A>T; p.N66I; 3:169127913-169127913	skin	malignant_melanoma	Substitution - Missense
c.1527C>T; p.L509L; 3:169115781-169115781	skin	malignant_melanoma	Substitution - coding silent
c.1756G>A; p.D586N; 3:169115552-169115552	skin	malignant_melanoma	Substitution - Missense
c.235G>A; p.E79K; 3:169127875-169127875	skin	malignant_melanoma	Substitution - Missense
c.1756G>A; p.D586N; 3:169115552-169115552	skin	malignant_melanoma	Substitution - Missense
c.2286-1G>C; p.?; 3:169095246-169095246	skin	malignant_melanoma	Unknown
c.1629G>A; p.K543K; 3:169115679-169115679	skin; trunk	malignant_melanoma; nodular	Substitution - coding silent
c.1629G>A; p.K543K; 3:169115679-169115679	skin	malignant_melanoma	Substitution - coding silent
c.1629G>A; p.K543K; 3:169115679-169115679	skin	malignant_melanoma	Substitution - coding silent
c.2497G>A; p.G833S; 3:169093061-169093061	skin	malignant_melanoma	Substitution - Missense
c.1180C>A; p.L394I; 3:169116128-169116128	skin	malignant_melanoma	Substitution - Missense
c.2497G>A; p.G833S; 3:169093061-169093061	skin	malignant_melanoma	Substitution - Missense
c.692C>T; p.S231F; 3:169116616-169116616	skin	malignant_melanoma	Substitution - Missense
c.692C>T; p.S231F; 3:169116616-169116616	skin	malignant_melanoma	Substitution - Missense
c.692C>T; p.S231F; 3:169116616-169116616	skin	malignant_melanoma	Substitution - Missense
c.692C>T; p.S231F; 3:169116616-169116616	skin	malignant_melanoma	Substitution - Missense
c.2543G>A; p.R848Q; 3:169093015-169093015	skin	malignant_melanoma	Substitution - Missense
c.2770G>A; p.G924R; 3:169090067-169090067	skin	malignant_melanoma	Substitution - Missense
c.2543G>A; p.R848Q; 3:169093015-169093015	skin	malignant_melanoma	Substitution - Missense
c.2543G>A; p.R848Q; 3:169093015-169093015	skin	malignant_melanoma	Substitution - Missense
c.2771G>A; p.G924E; 3:169090066-169090066	skin	malignant_melanoma	Substitution - Missense
c.1091G>A; p.G364E; 3:169116217-169116217	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2916G>A; p.R972R; 3:169089105-169089105	skin	malignant_melanoma	Substitution - coding silent
c.800C>T; p.S267F; 3:169116508-169116508	skin	malignant_melanoma	Substitution - Missense
c.772C>T; p.P258S; 3:169116536-169116536	skin	malignant_melanoma	Substitution - Missense
c.772C>T; p.P258S; 3:169116536-169116536	skin	malignant_melanoma	Substitution - Missense
c.1832G>A; p.G611E; 3:169115476-169115476	skin	malignant_melanoma	Substitution - Missense
c.490G>A; p.E164K; 3:169121134-169121134	skin	malignant_melanoma	Substitution - Missense
c.862C>T; p.P288S; 3:169116446-169116446	skin	malignant_melanoma	Substitution - Missense
c.2926G>A; p.D976N; 3:169089095-169089095	skin; extremity	malignant_melanoma	Substitution - Missense
c.267-1G>A; p.?; 3:169122728-169122728	skin	malignant_melanoma	Unknown
c.1751_1752CC>TT; p.P584L; 3:169115556-169115557	skin	malignant_melanoma	Substitution - Missense
c.2729G>A; p.G910E; 3:169090108-169090108	skin	malignant_melanoma	Substitution - Missense
c.2016C>T; p.F672F; 3:169107950-169107950	skin	malignant_melanoma	Substitution - coding silent
c.1643G>A; p.G548D; 3:169115665-169115665	skin	malignant_melanoma	Substitution - Missense
c.1470G>A; p.L490L; 3:169115838-169115838	skin	malignant_melanoma	Substitution - coding silent
c.20C>T; p.P7L; 3:169131458-169131458	skin	malignant_melanoma	Substitution - Missense
c.1557G>A; p.M519I; 3:169115751-169115751	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1912G>A; p.D638N; 3:169115396-169115396	skin	malignant_melanoma	Substitution - Missense
c.380G>A; p.S127N; 3:169122614-169122614	skin	malignant_melanoma	Substitution - Missense
c.1474G>A; p.G492R; 3:169115834-169115834	skin	malignant_melanoma	Substitution - Missense
c.616C>T; p.H206Y; 3:169116692-169116692	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.720G>A; p.E240E; 3:169116588-169116588	skin	malignant_melanoma	Substitution - coding silent
c.136A>T; p.T46S; 3:169127974-169127974	skin	malignant_melanoma	Substitution - Missense
c.465C>T; p.V155V; 3:169121159-169121159	skin	malignant_melanoma	Substitution - coding silent
c.602C>T; p.S201L; 3:169116706-169116706	skin	malignant_melanoma	Substitution - Missense
c.2957C>T; p.S986F; 3:169089064-169089064	skin	malignant_melanoma	Substitution - Missense
c.1916C>T; p.P639L; 3:169115392-169115392	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1586C>T; p.S529L; 3:169115722-169115722	skin	malignant_melanoma	Substitution - Missense
c.1586C>T; p.S529L; 3:169115722-169115722	skin	malignant_melanoma	Substitution - Missense
c.1586C>T; p.S529L; 3:169115722-169115722	skin	malignant_melanoma	Substitution - Missense
c.2286-1G>A; p.?; 3:169095246-169095246	skin	malignant_melanoma	Unknown
c.1452C>T; p.Y484Y; 3:169115856-169115856	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2286-1G>A; p.?; 3:169095246-169095246	skin	malignant_melanoma	Unknown
c.2468C>T; p.S823L; 3:169093090-169093090	skin	malignant_melanoma	Substitution - Missense
c.2207G>A; p.R736K; 3:169102060-169102060	skin	malignant_melanoma	Substitution - Missense
c.2404C>A; p.Q802K; 3:169095127-169095127	soft_tissue; blood_vessel	angiosarcoma	Substitution - Missense
c.473G>A; p.R158Q; 3:169121151-169121151	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.414+2T>C; p.?; 3:169122578-169122578	stomach	carcinoma; adenocarcinoma	Unknown
c.421A>C; p.T141P; 3:169121203-169121203	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.219G>A; p.T73T; 3:169127891-169127891	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1833A>G; p.G611G; 3:169115475-169115475	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.236A>T; p.E79V; 3:169127874-169127874	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.434A>G; p.N145S; 3:169121190-169121190	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3116C>T; p.A1039V; 3:169084949-169084949	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.519G>A; p.S173S; 3:169121105-169121105	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1414G>C; p.D472H; 3:169115894-169115894	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1491delA; p.V498fs*30; 3:169115817-169115817	stomach	adenocarcinoma	Deletion - Frameshift
c.652A>T; p.K218*; 3:169116656-169116656	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Nonsense
c.621G>T; p.K207N; 3:169116687-169116687	thyroid	other; neoplasm	Substitution - Missense
c.1728A>C; p.T576T; 3:169115580-169115580	thyroid	other; neoplasm	Substitution - coding silent
c.1728A>C; p.T576T; 3:169115580-169115580	thyroid	other; neoplasm	Substitution - coding silent
c.744T>G; p.G248G; 3:169116564-169116564	thyroid	other; neoplasm	Substitution - coding silent
c.744T>G; p.G248G; 3:169116564-169116564	thyroid	other; neoplasm	Substitution - coding silent
c.744T>G; p.G248G; 3:169116564-169116564	thyroid	other; neoplasm	Substitution - coding silent
c.415-1G>T; p.?; 3:169121210-169121210	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.2864G>A; p.G955E; 3:169089157-169089157	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3130G>T; p.A1044S; 3:169084935-169084935	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3130G>T; p.A1044S; 3:169084935-169084935	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.187G>A; p.E63K; 3:169127923-169127923	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1969G>C; p.E657Q; 3:169112831-169112831	urinary_tract; bladder	carcinoma	Substitution - Missense
c.280A>C; p.M94L; 3:169122714-169122714	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2710_2711GA>AT; p.E904I; 3:169090126-169090127	urinary_tract; bladder	carcinoma	Substitution - Missense
c.790G>T; p.D264Y; 3:169116518-169116518	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1234G>A; p.D412N; 3:169116074-169116074	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1234G>A; p.D412N; 3:169116074-169116074	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2711A>T; p.E904V; 3:169090126-169090126	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1264G>C; p.E422Q; 3:169116044-169116044	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1264G>C; p.E422Q; 3:169116044-169116044	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2710G>A; p.E904K; 3:169090127-169090127	urinary_tract; bladder	carcinoma	Substitution - Missense
c.69C>A; p.C23*; 3:169128041-169128041	urinary_tract; bladder	carcinoma	Substitution - Nonsense

Oncogene database

COSMIC confirmed somatic mutation [Top]

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