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	3697
Symbol	ITIH1
Synonymous	H1P\|IATIH\|IGHEP1\|ITI-HC1\|ITIH\|SHAP
Full name	inter-alpha-trypsin inhibitor heavy chain 1
Gene description	ITI heavy chain H1\|inter-alpha (globulin) inhibitor H1\|inter-alpha (globulin) inhibitor, H1 polypeptide\|inter-alpha-inhibitor heavy chain 1\|inter-alpha-trypsin inhibitor complex component III\|inter-alpha-trypsin inhibitor heavy chain H1\|serum-derived hyal
Cytoband	3p21.1
Gene type	protein-coding
Synonymous	MIM:147270; HGNC:HGNC:6166; Ensembl:ENSG00000055957; HPRD:00927; Vega:OTTHUMG00000150312

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1971C>T; p.S657S; 3:52788032-52788032	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.791G>A; p.R264Q; 3:52782043-52782043	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.791G>A; p.R264Q; 3:52782043-52782043	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2210A>G; p.N737S; 3:52789743-52789743	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.577G>T; p.D193Y; 3:52780272-52780272	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1020G>A; p.W340*; 3:52783046-52783046	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Nonsense
c.1916C>A; p.P639H; 3:52787604-52787604	breast	carcinoma	Substitution - Missense
c.675C>A; p.F225L; 3:52780370-52780370	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2205C>T; p.I735I; 3:52789738-52789738	skin	malignant_melanoma	Substitution - coding silent
c.946C>T; p.L316F; 3:52782972-52782972	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1541G>A; p.R514H; 3:52785177-52785177	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.840C>A; p.F280L; 3:52782177-52782177	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.681delA; p.K229fs*10; 3:52780376-52780376	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.202C>T; p.H68Y; 3:52778403-52778403	skin	malignant_melanoma	Substitution - Missense
c.663C>G; p.I221M; 3:52780358-52780358	breast	carcinoma	Substitution - Missense
c.2577G>T; p.V859V; 3:52791599-52791599	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1663G>T; p.G555C; 3:52786364-52786364	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.586A>C; p.I196L; 3:52780281-52780281	breast	carcinoma	Substitution - Missense
c.1283T>G; p.F428C; 3:52784353-52784353	skin	malignant_melanoma	Substitution - Missense
c.2370C>T; p.D790D; 3:52790797-52790797	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.465G>C; p.Q155H; 3:52779486-52779486	pancreas	carcinoma	Substitution - Missense
c.1837G>A; p.G613S; 3:52787048-52787048	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2194C>T; p.R732W; 3:52789727-52789727	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1837G>A; p.G613S; 3:52787048-52787048	skin	malignant_melanoma	Substitution - Missense
c.2614C>T; p.Q872*; 3:52791789-52791789	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1963T>A; p.S655T; 3:52788024-52788024	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2724C>T; p.P908P; 3:52791899-52791899	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.411-1G>A; p.?; 3:52779431-52779431	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Unknown
c.568T>A; p.F190I; 3:52779589-52779589	skin	malignant_melanoma	Substitution - Missense
c.2054C>A; p.T685N; 3:52788280-52788280	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2514C>A; p.I838I; 3:52791536-52791536	NS	NS	Substitution - coding silent
c.1522G>C; p.E508Q; 3:52785158-52785158	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.592G>A; p.E198K; 3:52780287-52780287	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.1984C>T; p.L662L; 3:52788045-52788045	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1395C>A; p.T465T; 3:52784465-52784465	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.446A>G; p.H149R; 3:52779467-52779467	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1603G>T; p.E535*; 3:52786304-52786304	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1754A>T; p.E585V; 3:52786965-52786965	thyroid	other; neoplasm	Substitution - Missense
c.2030T>C; p.I677T; 3:52788256-52788256	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.306-2A>T; p.?; 3:52778940-52778940	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Unknown
c.1754A>T; p.E585V; 3:52786965-52786965	thyroid	other; neoplasm	Substitution - Missense
c.330C>T; p.I110I; 3:52778966-52778966	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.561G>A; p.V187V; 3:52779582-52779582	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2476C>T; p.R826W; 3:52790903-52790903	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.262G>A; p.D88N; 3:52778463-52778463	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.262G>A; p.D88N; 3:52778463-52778463	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.353C>A; p.T118N; 3:52778989-52778989	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2002G>A; p.G668S; 3:52788063-52788063	thyroid	other; neoplasm	Substitution - Missense
c.2006T>A; p.V669E; 3:52788232-52788232	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2638T>A; p.W880R; 3:52791813-52791813	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1925-10_1925-9delCT; p.?; 3:52787976-52787977	pancreas	carcinoma; acinar_carcinoma	Unknown
c.2466G>A; p.R822R; 3:52790893-52790893	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.418G>A; p.G140R; 3:52779439-52779439	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.2206G>A; p.A736T; 3:52789739-52789739	liver	carcinoma	Substitution - Missense
c.2206G>A; p.A736T; 3:52789739-52789739	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2682G>A; p.G894G; 3:52791857-52791857	skin	malignant_melanoma	Substitution - coding silent
c.2061C>T; p.C687C; 3:52788287-52788287	breast	carcinoma	Substitution - coding silent
c.702C>T; p.F234F; 3:52781954-52781954	skin	malignant_melanoma	Substitution - coding silent
c.1872C>T; p.I624I; 3:52787083-52787083	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2613G>A; p.L871L; 3:52791788-52791788	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1784A>G; p.Q595R; 3:52786995-52786995	thyroid	other; neoplasm	Substitution - Missense
c.2547T>C; p.S849S; 3:52791569-52791569	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2547T>C; p.S849S; 3:52791569-52791569	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2363C>T; p.S788F; 3:52790790-52790790	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1233G>T; p.T411T; 3:52784303-52784303	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1180C>T; p.H394Y; 3:52783294-52783294	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1361G>A; p.R454Q; 3:52784431-52784431	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1686C>T; p.V562V; 3:52786387-52786387	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1513G>A; p.E505K; 3:52785149-52785149	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1251C>A; p.L417L; 3:52784321-52784321	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1232C>T; p.T411M; 3:52784302-52784302	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1232C>T; p.T411M; 3:52784302-52784302	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1513G>A; p.E505K; 3:52785149-52785149	skin	malignant_melanoma	Substitution - Missense
c.483G>C; p.Q161H; 3:52779504-52779504	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2016C>A; p.D672E; 3:52788242-52788242	breast	carcinoma	Substitution - Missense
c.1014A>C; p.Q338H; 3:52783040-52783040	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1238G>A; p.R413H; 3:52784308-52784308	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1238G>A; p.R413H; 3:52784308-52784308	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.740G>A; p.C247Y; 3:52781992-52781992	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.940G>A; p.A314T; 3:52782966-52782966	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2080C>T; p.P694S; 3:52788306-52788306	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.813+1G>T; p.?; 3:52782066-52782066	lung	carcinoma; adenocarcinoma	Unknown
c.236C>T; p.A79V; 3:52778437-52778437	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1705C>G; p.L569V; 3:52786406-52786406	breast	carcinoma	Substitution - Missense
c.420G>A; p.G140G; 3:52779441-52779441	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2191G>A; p.G731R; 3:52789724-52789724	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1929C>T; p.F643F; 3:52787990-52787990	skin	malignant_melanoma	Substitution - coding silent
c.1929C>T; p.F643F; 3:52787990-52787990	skin; leg	malignant_melanoma; nodular	Substitution - coding silent
c.2221G>A; p.D741N; 3:52789754-52789754	skin	malignant_melanoma	Substitution - Missense
c.2650G>A; p.E884K; 3:52791825-52791825	skin	malignant_melanoma	Substitution - Missense
c.273C>T; p.I91I; 3:52778474-52778474	skin	malignant_melanoma	Substitution - coding silent
c.1055T>C; p.L352P; 3:52783081-52783081	skin	malignant_melanoma	Substitution - Missense
c.2243C>A; p.P748H; 3:52789776-52789776	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.268G>A; p.E90K; 3:52778469-52778469	skin	malignant_melanoma	Substitution - Missense
c.2528C>G; p.S843C; 3:52791550-52791550	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.233C>T; p.T78I; 3:52778434-52778434	pancreas	carcinoma	Substitution - Missense
c.2494+5G>T; p.?; 3:52790926-52790926	kidney	other; neoplasm	Unknown
c.2055C>T; p.T685T; 3:52788281-52788281	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2402G>A; p.R801Q; 3:52790829-52790829	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.817G>A; p.A273T; 3:52782154-52782154	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.302C>T; p.A101V; 3:52778503-52778503	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.1608C>A; p.F536L; 3:52786309-52786309	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1773C>T; p.S591S; 3:52786984-52786984	skin	malignant_melanoma	Substitution - coding silent
c.2003G>A; p.G668D; 3:52788064-52788064	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1039G>T; p.A347S; 3:52783065-52783065	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.804C>T; p.C268C; 3:52782056-52782056	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1370G>A; p.R457K; 3:52784440-52784440	skin	malignant_melanoma	Substitution - Missense
c.1407+3C>A; p.?; 3:52784480-52784480	liver	carcinoma	Unknown
c.749C>T; p.S250F; 3:52782001-52782001	skin	malignant_melanoma	Substitution - Missense
c.1407+3C>A; p.?; 3:52784480-52784480	liver	carcinoma	Unknown
c.1092G>A; p.L364L; 3:52783118-52783118	skin	malignant_melanoma	Substitution - coding silent
c.1092G>A; p.L364L; 3:52783118-52783118	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1452T>C; p.D484D; 3:52785088-52785088	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1890T>A; p.D630E; 3:52787189-52787189	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.838T>A; p.F280I; 3:52782175-52782175	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.398C>T; p.A133V; 3:52779034-52779034	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2710G>A; p.D904N; 3:52791885-52791885	skin	malignant_melanoma	Substitution - Missense
c.959G>T; p.G320V; 3:52782985-52782985	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2401C>T; p.R801*; 3:52790828-52790828	central_nervous_system; brain	glioma	Substitution - Nonsense
c.2495-5T>C; p.?; 3:52791512-52791512	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.2495-5T>C; p.?; 3:52791512-52791512	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.2584A>G; p.N862D; 3:52791606-52791606	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2401C>T; p.R801*; 3:52790828-52790828	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1273C>T; p.R425W; 3:52784343-52784343	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1007G>T; p.R336L; 3:52783033-52783033	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.717C>A; p.S239R; 3:52781969-52781969	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1878G>T; p.K626N; 3:52787089-52787089	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1750G>A; p.E584K; 3:52786961-52786961	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2725G>A; p.D909N; 3:52791900-52791900	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2634delC; p.P879fs*>33; 3:52791809-52791809	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1211G>A; p.G404D; 3:52783325-52783325	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.342G>A; p.K114K; 3:52778978-52778978	skin	malignant_melanoma	Substitution - coding silent
c.303C>A; p.A101A; 3:52778504-52778504	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.481C>T; p.Q161*; 3:52779502-52779502	skin	malignant_melanoma	Substitution - Nonsense
c.1270A>G; p.I424V; 3:52784340-52784340	liver	carcinoma	Substitution - Missense
c.1270A>G; p.I424V; 3:52784340-52784340	liver	carcinoma	Substitution - Missense
c.658A>T; p.T220S; 3:52780353-52780353	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2396T>G; p.L799W; 3:52790823-52790823	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1270A>G; p.I424V; 3:52784340-52784340	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.101G>T; p.R34M; 3:52777716-52777716	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2047G>A; p.E683K; 3:52788273-52788273	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.250G>A; p.E84K; 3:52778451-52778451	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.250G>A; p.E84K; 3:52778451-52778451	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.717C>T; p.S239S; 3:52781969-52781969	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1929C>G; p.F643L; 3:52787990-52787990	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1855G>A; p.G619S; 3:52787066-52787066	skin	malignant_melanoma	Substitution - Missense
c.1919G>C; p.R640T; 3:52787607-52787607	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.964A>T; p.M322L; 3:52782990-52782990	liver	carcinoma	Substitution - Missense
c.261C>T; p.F87F; 3:52778462-52778462	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2268C>G; p.G756G; 3:52789801-52789801	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.371G>A; p.R124Q; 3:52779007-52779007	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.892_894delGAC; p.D298delD; 3:52782229-52782231	liver	carcinoma; hepatocellular_carcinoma	Deletion - In frame
c.1820C>T; p.T607I; 3:52787031-52787031	stomach	adenocarcinoma	Substitution - Missense
c.2607G>A; p.R869R; 3:52791782-52791782	skin	malignant_melanoma	Substitution - coding silent
c.1765C>A; p.L589M; 3:52786976-52786976	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.906C>T; p.S302S; 3:52782243-52782243	skin	malignant_melanoma	Substitution - coding silent
c.658A>G; p.T220A; 3:52780353-52780353	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1691G>A; p.R564H; 3:52786392-52786392	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.414C>A; p.A138A; 3:52779435-52779435	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.759C>T; p.N253N; 3:52782011-52782011	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.880G>T; p.V294F; 3:52782217-52782217	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1297C>A; p.L433M; 3:52784367-52784367	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1378G>A; p.E460K; 3:52784448-52784448	skin	malignant_melanoma	Substitution - Missense
c.1584G>T; p.Q528H; 3:52785220-52785220	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1378G>A; p.E460K; 3:52784448-52784448	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1378G>A; p.E460K; 3:52784448-52784448	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.2590C>A; p.R864R; 3:52791612-52791612	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.321C>T; p.N107N; 3:52778957-52778957	central_nervous_system; brain	glioma	Substitution - coding silent
c.89C>T; p.S30L; 3:52777704-52777704	skin	malignant_melanoma	Substitution - Missense
c.89C>T; p.S30L; 3:52777704-52777704	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.422G>A; p.R141K; 3:52779443-52779443	skin	malignant_melanoma	Substitution - Missense
c.1398G>T; p.Q466H; 3:52784468-52784468	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.691C>A; p.H231N; 3:52781943-52781943	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.60C>T; p.L20L; 3:52777675-52777675	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.60C>T; p.L20L; 3:52777675-52777675	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.1311C>T; p.H437H; 3:52784381-52784381	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.553C>T; p.Q185*; 3:52779574-52779574	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Nonsense
c.1345A>T; p.M449L; 3:52784415-52784415	central_nervous_system; medulla	glioma; oligodendroglioma_Grade_III	Substitution - Missense
c.2317G>T; p.D773Y; 3:52789850-52789850	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.972A>G; p.P324P; 3:52782998-52782998	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.448C>A; p.L150I; 3:52779469-52779469	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1267G>A; p.A423T; 3:52784337-52784337	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1006C>T; p.R336*; 3:52783032-52783032	skin	malignant_melanoma	Substitution - Nonsense
c.1066C>G; p.Q356E; 3:52783092-52783092	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2154G>T; p.K718N; 3:52789687-52789687	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1305C>T; p.F435F; 3:52784375-52784375	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.638C>T; p.P213L; 3:52780333-52780333	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.63C>T; p.I21I; 3:52777678-52777678	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.353C>T; p.T118I; 3:52778989-52778989	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.122G>A; p.R41Q; 3:52778001-52778001	prostate	carcinoma	Substitution - Missense
c.945C>T; p.L315L; 3:52782971-52782971	skin	malignant_melanoma	Substitution - coding silent
c.2694C>T; p.I898I; 3:52791869-52791869	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1576G>T; p.D526Y; 3:52785212-52785212	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1370G>T; p.R457I; 3:52784440-52784440	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1581G>A; p.V527V; 3:52785217-52785217	prostate	carcinoma	Substitution - coding silent
c.1908G>T; p.M636I; 3:52787596-52787596	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1993C>T; p.R665*; 3:52788054-52788054	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1790C>T; p.S597L; 3:52787001-52787001	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1845G>A; p.A615A; 3:52787056-52787056	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.573+10A>C; p.?; 3:52779604-52779604	liver	carcinoma	Unknown
c.138+1G>T; p.?; 3:52778018-52778018	urinary_tract; bladder	carcinoma	Unknown
c.1954C>T; p.P652S; 3:52788015-52788015	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1660C>T; p.R554C; 3:52786361-52786361	pancreas	carcinoma	Substitution - Missense
c.1464C>T; p.P488P; 3:52785100-52785100	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1105A>G; p.N369D; 3:52783219-52783219	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.928C>G; p.Q310E; 3:52782265-52782265	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2718C>T; p.I906I; 3:52791893-52791893	skin	malignant_melanoma	Substitution - coding silent
c.1079G>A; p.R360Q; 3:52783105-52783105	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1783C>T; p.Q595*; 3:52786994-52786994	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2505C>A; p.F835L; 3:52791527-52791527	pancreas	carcinoma	Substitution - Missense
c.2583G>A; p.R861R; 3:52791605-52791605	skin	malignant_melanoma	Substitution - coding silent
c.1229T>G; p.V410G; 3:52784299-52784299	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.493G>C; p.E165Q; 3:52779514-52779514	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.454G>A; p.V152I; 3:52779475-52779475	prostate	carcinoma	Substitution - Missense
c.1888G>A; p.D630N; 3:52787099-52787099	skin	malignant_melanoma	Substitution - Missense
c.771G>A; p.K257K; 3:52782023-52782023	skin	malignant_melanoma	Substitution - coding silent
c.1518C>A; p.G506G; 3:52785154-52785154	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2569A>T; p.T857S; 3:52791591-52791591	pancreas	carcinoma	Substitution - Missense
c.1524G>T; p.E508D; 3:52785160-52785160	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1690C>T; p.R564C; 3:52786391-52786391	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.237C>A; p.A79A; 3:52778438-52778438	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2294G>T; p.R765M; 3:52789827-52789827	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2645G>A; p.G882E; 3:52791820-52791820	skin; trunk	malignant_melanoma; nodular	Substitution - Missense
c.364C>A; p.Q122K; 3:52779000-52779000	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.144C>T; p.V48V; 3:52778345-52778345	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.425C>A; p.T142N; 3:52779446-52779446	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2005G>A; p.V669M; 3:52788066-52788066	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.636G>T; p.L212L; 3:52780331-52780331	breast	carcinoma	Substitution - coding silent
c.193C>T; p.R65C; 3:52778394-52778394	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2494+8_2494+9insTG; p.?; 3:52790929-52790930	eye; uveal_tract	malignant_melanoma; spindle	Unknown

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation