lung cancer gene and literature database Home

Annotation category 5

Basic annotation
Ontology and pathways
Literature evidence
Curated literatures
Expression
Gene expression chart
Somatic mutation
COSMIC and TCGA mutations
Network
Gene interaction
ceRNA
Gene-related ceRNA

Gene information

Gene ID	4436
Symbol	MSH2
Synonymous	COCA1\|FCC1\|HNPCC\|HNPCC1\|LCFS2
Full name	mutS homolog 2
Gene description	DNA mismatch repair protein Msh2\|hMSH2\|mutS homolog 2, colon cancer, nonpolyposis type 1
Cytoband	2p21
Gene type	protein-coding
Synonymous	MIM:609309; HGNC:HGNC:7325; Ensembl:ENSG00000095002; HPRD:00389; Vega:OTTHUMG00000128861

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.2251G>A; p.G751R; 2:47478312-47478312	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.1228G>A; p.G410S; 2:47429893-47429893	breast	carcinoma	Substitution - Missense
c.1530G>C; p.Q510H; 2:47466677-47466677	breast	carcinoma	Substitution - Missense
c.1133_1135delAAG; p.E378del; 2:47429798-47429800	endometrium	carcinoma; adenocarcinoma	Deletion - In frame
c.1820_1824delGCTTT; p.F608fs*34; 2:47475085-47475089	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1488A>G; p.L496L; 2:47463132-47463132	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1976A>C; p.K659T; 2:47475241-47475241	breast	carcinoma	Substitution - Missense
c.1277-1G>A; p.?; 2:47445547-47445547	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Unknown
c.2006-6T>C; p.?; 2:47476361-47476361	stomach	carcinoma; adenocarcinoma	Unknown
c.2006-6T>C; p.?; 2:47476361-47476361	breast	carcinoma; lobular_carcinoma	Unknown
c.2006-6T>C; p.?; 2:47476361-47476361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.2006G>A; p.G669D; 2:47476367-47476367	pancreas	carcinoma	Substitution - Missense
c.1276_1276+9delGGTAACAAGT; p.?; 2:47429941-47429950	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1737_1738insA; p.E580fs*18; 2:47471040-47471041	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2579C>T; p.S860L; 2:47480816-47480816	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2403T>C; p.H801H; 2:47478464-47478464	prostate	carcinoma	Substitution - coding silent
c.1238A>G; p.Q413R; 2:47429903-47429903	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.144G>A; p.E48E; 2:47403335-47403335	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1224T>G; p.Y408*; 2:47429889-47429889	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.970C>T; p.Q324*; 2:47416323-47416323	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.1596C>T; p.V532V; 2:47466743-47466743	skin	malignant_melanoma	Substitution - coding silent
c.1147C>T; p.R383*; 2:47429812-47429812	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2384C>A; p.P795Q; 2:47478445-47478445	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1681G>T; p.E561*; 2:47470984-47470984	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2214T>C; p.S738S; 2:47478275-47478275	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2131C>T; p.R711*; 2:47476492-47476492	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.727C>T; p.R243W; 2:47412495-47412495	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2131C>T; p.R711*; 2:47476492-47476492	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.664_664delA; p.I222fs*2; 2:47412432-47412432	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2246A>G; p.E749G; 2:47478307-47478307	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1738G>T; p.E580*; 2:47471041-47471041	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1738G>T; p.E580*; 2:47471041-47471041	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1738G>T; p.E580*; 2:47471041-47471041	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.658G>T; p.G220*; 2:47412426-47412426	large_intestine; right	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1738G>T; p.E580*; 2:47471041-47471041	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2497C>G; p.L833V; 2:47480734-47480734	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1550_1551delCA; p.Q518fs*10; 2:47466697-47466698	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2168C>T; p.S723F; 2:47476529-47476529	skin; upper_leg	malignant_melanoma	Substitution - Missense
c.1760G>A; p.G587D; 2:47475025-47475025	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.690T>C; p.A230A; 2:47412458-47412458	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1759+2T>C; p.?; 2:47471064-47471064	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2119T>C; p.C707R; 2:47476480-47476480	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.606C>A; p.P202P; 2:47410333-47410333	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.606C>A; p.P202P; 2:47410333-47410333	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1861C>T; p.R621*; 2:47475126-47475126	breast	carcinoma	Substitution - Nonsense
c.606C>A; p.P202P; 2:47410333-47410333	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.606C>A; p.P202P; 2:47410333-47410333	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.606C>A; p.P202P; 2:47410333-47410333	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.687delA; p.A230fs*16; 2:47412455-47412455	small_intestine; duodenum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.219G>C; p.K73N; 2:47408408-47408408	stomach	adenocarcinoma	Substitution - Missense
c.1399G>A; p.E467K; 2:47463043-47463043	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.1399G>A; p.E467K; 2:47463043-47463043	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.2508C>T; p.F836F; 2:47480745-47480745	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1401A>G; p.E467E; 2:47463045-47463045	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1807G>T; p.D603Y; 2:47475072-47475072	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1661+1G>T; p.?; 2:47466809-47466809	lung	carcinoma; adenocarcinoma	Unknown
c.549G>A; p.Q183Q; 2:47410276-47410276	bone; fibula	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1165C>T; p.R389*; 2:47429830-47429830	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.574A>G; p.I192V; 2:47410301-47410301	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1237C>A; p.Q413K; 2:47429902-47429902	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2101G>T; p.E701*; 2:47476462-47476462	skin	adnexal_tumour; sebaceous_carcinoma	Substitution - Nonsense
c.1234A>C; p.N412H; 2:47429899-47429899	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1509T>C; p.L503L; 2:47463153-47463153	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1066A>G; p.I356V; 2:47416419-47416419	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1216C>T; p.R406*; 2:47429881-47429881	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.595T>C; p.C199R; 2:47410322-47410322	liver	carcinoma	Substitution - Missense
c.1041G>A; p.K347K; 2:47416394-47416394	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.923G>A; p.R308K; 2:47414399-47414399	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2396A>G; p.N799S; 2:47478457-47478457	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.801T>A; p.V267V; 2:47414277-47414277	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.207G>A; p.P69P; 2:47403398-47403398	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1216C>A; p.R406R; 2:47429881-47429881	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2462T>C; p.V821A; 2:47480699-47480699	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1216C>A; p.R406R; 2:47429881-47429881	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1216C>A; p.R406R; 2:47429881-47429881	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.10C>T; p.Q4*; 2:47403201-47403201	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Nonsense
c.1216C>A; p.R406R; 2:47429881-47429881	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2462T>C; p.V821A; 2:47480699-47480699	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1183C>T; p.Q395*; 2:47429848-47429848	skin	malignant_melanoma	Substitution - Nonsense
c.2172G>A; p.T724T; 2:47476533-47476533	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1618A>G; p.S540G; 2:47466765-47466765	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2664G>A; p.L888L; 2:47482808-47482808	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2479G>A; p.G827R; 2:47480716-47480716	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1569delT; p.R524fs*2; 2:47466716-47466716	endometrium	carcinoma	Deletion - Frameshift
c.251A>T; p.N84I; 2:47408440-47408440	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1432C>T; p.L478F; 2:47463076-47463076	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2778C>T; p.I926I; 2:47482922-47482922	skin	malignant_melanoma	Substitution - coding silent
c.1479G>A; p.Q493Q; 2:47463123-47463123	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2131C>A; p.R711R; 2:47476492-47476492	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.984C>A; p.A328A; 2:47416337-47416337	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2391_2393delTAA; p.N799delN; 2:47478452-47478454	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.2465G>T; p.C822F; 2:47480702-47480702	skin	malignant_melanoma	Substitution - Missense
c.2465G>T; p.C822F; 2:47480702-47480702	skin	malignant_melanoma	Substitution - Missense
c.1092A>G; p.E364E; 2:47429757-47429757	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2465G>T; p.C822F; 2:47480702-47480702	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2166C>T; p.V722V; 2:47476527-47476527	skin	malignant_melanoma	Substitution - coding silent
c.1237C>T; p.Q413*; 2:47429902-47429902	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.241A>C; p.S81R; 2:47408430-47408430	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1089G>T; p.V363V; 2:47429754-47429754	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1447G>T; p.E483*; 2:47463091-47463091	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.258A>T; p.E86D; 2:47408447-47408447	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1052T>C; p.M351T; 2:47416405-47416405	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2464T>C; p.C822R; 2:47480701-47480701	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2061C>T; p.L687L; 2:47476422-47476422	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1426C>T; p.P476S; 2:47463070-47463070	skin	malignant_melanoma	Substitution - Missense
c.1590A>G; p.E530E; 2:47466737-47466737	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2061C>T; p.L687L; 2:47476422-47476422	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2554G>T; p.E852*; 2:47480791-47480791	skin	adnexal_tumour; sebaceous_carcinoma	Substitution - Nonsense
c.505A>G; p.I169V; 2:47410232-47410232	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1190A>G; p.Q397R; 2:47429855-47429855	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1733T>G; p.V578G; 2:47471036-47471036	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1217G>A; p.R406Q; 2:47429882-47429882	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1217G>A; p.R406Q; 2:47429882-47429882	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1217G>A; p.R406Q; 2:47429882-47429882	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1217G>A; p.R406Q; 2:47429882-47429882	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1487T>G; p.L496*; 2:47463131-47463131	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.965G>A; p.G322D; 2:47416318-47416318	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.965G>A; p.G322D; 2:47416318-47416318	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2580G>A; p.S860S; 2:47480817-47480817	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2580G>A; p.S860S; 2:47480817-47480817	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1760-2A>G; p.?; 2:47475023-47475023	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma	Unknown
c.1620T>C; p.S540S; 2:47466767-47466767	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.681delA; p.A230fs*16; 2:47412449-47412449	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2272G>A; p.D758N; 2:47478333-47478333	skin	malignant_melanoma	Substitution - Missense
c.1135G>T; p.D379Y; 2:47429800-47429800	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.934delC; p.L312fs*19; 2:47414410-47414410	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2061C>G; p.L687L; 2:47476422-47476422	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.205C>A; p.P69T; 2:47403396-47403396	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1816G>T; p.V606F; 2:47475081-47475081	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1759G>C; p.G587R; 2:47471062-47471062	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1933C>G; p.Q645E; 2:47475198-47475198	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2541_2541delA; p.A848fs*44; 2:47480778-47480778	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.409G>T; p.G137C; 2:47410136-47410136	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.984C>T; p.A328A; 2:47416337-47416337	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1905A>G; p.K635K; 2:47475170-47475170	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2038C>T; p.R680*; 2:47476399-47476399	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2038C>T; p.R680*; 2:47476399-47476399	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2038C>T; p.R680*; 2:47476399-47476399	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2038C>T; p.R680*; 2:47476399-47476399	skin	malignant_melanoma	Substitution - Nonsense
c.2673G>C; p.V891V; 2:47482817-47482817	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2038C>T; p.R680*; 2:47476399-47476399	skin; trunk	malignant_melanoma	Substitution - Nonsense
c.1649A>C; p.K550T; 2:47466796-47466796	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.777A>G; p.P259P; 2:47412545-47412545	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.777A>G; p.P259P; 2:47412545-47412545	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1939G>T; p.E647*; 2:47475204-47475204	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.777A>G; p.P259P; 2:47412545-47412545	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2573G>C; p.G858A; 2:47480810-47480810	breast	carcinoma	Substitution - Missense
c.2359_2360delCT; p.L787fs*11; 2:47478420-47478421	endometrium	carcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour	Deletion - Frameshift
c.2359_2360delCT; p.L787fs*11; 2:47478420-47478421	endometrium	carcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour	Deletion - Frameshift
c.1696A>C; p.N566H; 2:47470999-47470999	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2573G>T; p.G858V; 2:47480810-47480810	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1967A>T; p.Y656F; 2:47475232-47475232	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1069G>T; p.E357*; 2:47416422-47416422	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2245G>T; p.E749*; 2:47478306-47478306	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2027C>T; p.S676L; 2:47476388-47476388	liver	carcinoma	Substitution - Missense
c.2027C>T; p.S676L; 2:47476388-47476388	liver	carcinoma	Substitution - Missense
c.1316C>T; p.P439L; 2:47445587-47445587	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1656C>T; p.T552T; 2:47466803-47466803	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2479G>T; p.G827W; 2:47480716-47480716	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2479G>T; p.G827W; 2:47480716-47480716	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.328A>C; p.K110Q; 2:47408517-47408517	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2613G>T; p.K871N; 2:47480850-47480850	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2466T>C; p.C822C; 2:47480703-47480703	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2466T>C; p.C822C; 2:47480703-47480703	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1217G>T; p.R406L; 2:47429882-47429882	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1627G>A; p.D543N; 2:47466774-47466774	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1217G>T; p.R406L; 2:47429882-47429882	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1400A>G; p.E467G; 2:47463044-47463044	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1601delG; p.R534fs*9; 2:47466748-47466748	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.2240_2241delTA; p.I747fs*2; 2:47478301-47478302	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.699C>T; p.S233S; 2:47412467-47412467	skin	malignant_melanoma	Substitution - coding silent
c.1400A>G; p.E467G; 2:47463044-47463044	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1400A>G; p.E467G; 2:47463044-47463044	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.942+3A>T; p.?; 2:47414421-47414421	large_intestine	carcinoma; adenocarcinoma	Unknown
c.2786G>A; p.R929Q; 2:47482930-47482930	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2786G>A; p.R929Q; 2:47482930-47482930	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.942+3A>T; p.?; 2:47414421-47414421	large_intestine	carcinoma; adenocarcinoma	Unknown
c.605C>A; p.P202H; 2:47410332-47410332	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2410G>A; p.A804T; 2:47478471-47478471	skin	malignant_melanoma	Substitution - Missense
c.2258G>A; p.G753E; 2:47478319-47478319	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.509A>T; p.Q170L; 2:47410236-47410236	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.286C>T; p.R96C; 2:47408475-47408475	oesophagus	carcinoma	Substitution - Missense
c.1753delT; p.S585fs*5; 2:47471056-47471056	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.649A>C; p.I217L; 2:47412417-47412417	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1783C>T; p.L595F; 2:47475048-47475048	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2521A>C; p.I841L; 2:47480758-47480758	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1588G>T; p.E530*; 2:47466735-47466735	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.543T>C; p.N181N; 2:47410270-47410270	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2060T>C; p.L687P; 2:47476421-47476421	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2060T>C; p.L687P; 2:47476421-47476421	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1227G>A; p.Q409Q; 2:47429892-47429892	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.219G>T; p.K73N; 2:47408408-47408408	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2750C>T; p.A917V; 2:47482894-47482894	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1817T>C; p.V606A; 2:47475082-47475082	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2250delG; p.G751fs*12; 2:47478311-47478311	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.2480G>A; p.G827E; 2:47480717-47480717	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1059G>T; p.K353N; 2:47416412-47416412	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1542T>C; p.D514D; 2:47466689-47466689	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.228G>T; p.Q76H; 2:47408417-47408417	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1807G>A; p.D603N; 2:47475072-47475072	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.1759G>T; p.G587C; 2:47471062-47471062	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.366+30delT; p.?; 2:47408585-47408585	large_intestine	carcinoma; adenocarcinoma	Unknown
c.1759G>T; p.G587C; 2:47471062-47471062	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2133A>G; p.R711R; 2:47476494-47476494	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2461G>T; p.V821F; 2:47480698-47480698	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.249G>T; p.M83I; 2:47408438-47408438	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1034G>A; p.W345*; 2:47416387-47416387	breast	carcinoma; ductal_carcinoma	Substitution - Nonsense
c.2486A>G; p.H829R; 2:47480723-47480723	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1492A>C; p.S498R; 2:47463136-47463136	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1578C>A; p.T526T; 2:47466725-47466725	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1578C>A; p.T526T; 2:47466725-47466725	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1578C>A; p.T526T; 2:47466725-47466725	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2436_2437insA; p.M813fs*11; 2:47478497-47478498	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.502T>C; p.S168P; 2:47410229-47410229	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1149A>T; p.R383R; 2:47429814-47429814	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2463C>A; p.V821V; 2:47480700-47480700	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2221A>T; p.K741*; 2:47478282-47478282	kidney	other; neoplasm	Substitution - Nonsense
c.606C>T; p.P202P; 2:47410333-47410333	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2221A>T; p.K741*; 2:47478282-47478282	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.2020G>A; p.G674S; 2:47476381-47476381	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1479G>T; p.Q493H; 2:47463123-47463123	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2708A>T; p.N903I; 2:47482852-47482852	skin	malignant_melanoma	Substitution - Missense
c.662G>T; p.G221V; 2:47412430-47412430	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.2206C>A; p.L736I; 2:47476567-47476567	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1529_1530delAG; p.Q510fs*2; 2:47466676-47466677	autonomic_ganglia	neuroblastoma	Deletion - Frameshift
c.2446C>T; p.Q816*; 2:47478507-47478507	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1351C>G; p.Q451E; 2:47445622-47445622	breast	carcinoma	Substitution - Missense
c.645+1G>A; p.?; 2:47410373-47410373	large_intestine	carcinoma; adenocarcinoma	Unknown
c.942+3_942+10delAAAAAAAA; p.?; 2:47414421-47414428	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; essential_thrombocythaemia	Unknown
c.1476G>A; p.M492I; 2:47463120-47463120	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.2470C>G; p.Q824E; 2:47480707-47480707	NS	NS	Substitution - Missense
c.2601A>G; p.E867E; 2:47480838-47480838	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1009C>T; p.Q337*; 2:47416362-47416362	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.660A>G; p.G220G; 2:47412428-47412428	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2215G>A; p.A739T; 2:47478276-47478276	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.660A>G; p.G220G; 2:47412428-47412428	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.660A>G; p.G220G; 2:47412428-47412428	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1054G>C; p.D352H; 2:47416407-47416407	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.2082delT; p.F694fs*16; 2:47476443-47476443	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.709A>G; p.I237V; 2:47412477-47412477	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1054G>C; p.D352H; 2:47416407-47416407	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2466T>A; p.C822*; 2:47480703-47480703	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation