Entrez Gene

Basic Information
Gene ID	57580
Name	PREX1
Synonymous	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1;PREX1;phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1
Definition	phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein\|ptdIns(3,4,5)-dependent Rac exchanger 1
Position	20q13.13
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.3577T>A; p.L1193M; 20:48644433-48644433	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3729G>T; p.R1243R; 20:48642214-48642214	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.368C>G; p.P123R; 20:48745071-48745071	skin	malignant_melanoma	Substitution - Missense
c.3010G>A; p.G1004S; 20:48650014-48650014	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1747A>C; p.K583Q; 20:48660053-48660053	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2170C>T; p.R724C; 20:48655329-48655329	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2170C>T; p.R724C; 20:48655329-48655329	skin	malignant_melanoma	Substitution - Missense
c.4961C>T; p.P1654L; 20:48625904-48625904	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1661C>T; p.A554V; 20:48676197-48676197	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2759G>A; p.R920H; 20:48650952-48650952	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4614C>T; p.A1538A; 20:48629601-48629601	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.783+1G>C; p.?; 20:48708259-48708259	liver	carcinoma	Unknown
c.4550A>G; p.N1517S; 20:48630771-48630771	skin; hand	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.783+1G>C; p.?; 20:48708259-48708259	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.4614C>T; p.A1538A; 20:48629601-48629601	lung; left_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1834C>T; p.R612C; 20:48659966-48659966	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2594T>C; p.V865A; 20:48651457-48651457	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.2262C>A; p.V754V; 20:48653445-48653445	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2758delC; p.R920fs*25; 20:48650953-48650953	breast	carcinoma	Deletion - Frameshift
c.4407G>A; p.T1469T; 20:48632500-48632500	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2000A>G; p.K667R; 20:48657163-48657163	prostate	carcinoma	Substitution - Missense
c.519G>C; p.L173F; 20:48734546-48734546	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1214C>T; p.A405V; 20:48688777-48688777	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1372A>C; p.S458R; 20:48681298-48681298	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3372C>T; p.A1124A; 20:48645991-48645991	skin	malignant_melanoma	Substitution - coding silent
c.1630C>T; p.P544S; 20:48676228-48676228	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2957C>T; p.P986L; 20:48650067-48650067	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1630C>T; p.P544S; 20:48676228-48676228	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.271C>A; p.L91I; 20:48747829-48747829	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3521A>G; p.N1174S; 20:48644489-48644489	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2755T>C; p.F919L; 20:48650956-48650956	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3255G>T; p.K1085N; 20:48649350-48649350	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2697G>A; p.E899E; 20:48651014-48651014	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3255G>T; p.K1085N; 20:48649350-48649350	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.701G>A; p.C234Y; 20:48708342-48708342	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3131G>C; p.G1044A; 20:48649474-48649474	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2883G>T; p.P961P; 20:48650141-48650141	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1596T>C; p.R532R; 20:48676262-48676262	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4604C>T; p.P1535L; 20:48629611-48629611	skin; neck	malignant_melanoma	Substitution - Missense
c.3595G>A; p.G1199R; 20:48644415-48644415	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1030G>A; p.G344R; 20:48692678-48692678	breast	carcinoma	Substitution - Missense
c.1177C>T; p.Q393*; 20:48690956-48690956	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.4301G>A; p.R1434Q; 20:48632606-48632606	skin	malignant_melanoma	Substitution - Missense
c.1890C>T; p.P630P; 20:48658220-48658220	skin	malignant_melanoma	Substitution - coding silent
c.4301G>A; p.R1434Q; 20:48632606-48632606	skin	malignant_melanoma	Substitution - Missense
c.4301G>A; p.R1434Q; 20:48632606-48632606	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3655C>T; p.H1219Y; 20:48642436-48642436	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.502G>T; p.V168L; 20:48734563-48734563	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1296G>A; p.R432R; 20:48688695-48688695	skin	malignant_melanoma	Substitution - coding silent
c.1296G>A; p.R432R; 20:48688695-48688695	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3830G>A; p.S1277N; 20:48639840-48639840	breast	carcinoma	Substitution - Missense
c.895G>A; p.V299I; 20:48700775-48700775	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4810C>T; p.R1604W; 20:48627920-48627920	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4810C>T; p.R1604W; 20:48627920-48627920	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4810C>T; p.R1604W; 20:48627920-48627920	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4810C>T; p.R1604W; 20:48627920-48627920	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3765C>T; p.H1255H; 20:48642178-48642178	pancreas	carcinoma	Substitution - coding silent
c.4871G>A; p.G1624D; 20:48627614-48627614	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1964C>T; p.S655L; 20:48658146-48658146	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3556G>A; p.V1186M; 20:48644454-48644454	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3556G>A; p.V1186M; 20:48644454-48644454	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4329C>T; p.L1443L; 20:48632578-48632578	thyroid	other; neoplasm	Substitution - coding silent
c.1519C>G; p.L507V; 20:48679671-48679671	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4268-1G>C; p.?; 20:48632640-48632640	breast	carcinoma	Unknown
c.4406C>T; p.T1469M; 20:48632501-48632501	pancreas	carcinoma	Substitution - Missense
c.4406C>T; p.T1469M; 20:48632501-48632501	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.291G>T; p.K97N; 20:48747809-48747809	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.291G>T; p.K97N; 20:48747809-48747809	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.291G>T; p.K97N; 20:48747809-48747809	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.1313T>C; p.V438A; 20:48688678-48688678	central_nervous_system; brain	glioma	Substitution - Missense
c.696C>T; p.T232T; 20:48708347-48708347	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3627delG; p.I1210fs*32; 20:48642464-48642464	liver	carcinoma	Deletion - Frameshift
c.2483C>T; p.S828F; 20:48651568-48651568	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2335G>A; p.E779K; 20:48653372-48653372	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2335G>A; p.E779K; 20:48653372-48653372	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2841G>T; p.R947S; 20:48650183-48650183	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1073G>A; p.G358D; 20:48691060-48691060	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1770C>T; p.S590S; 20:48660030-48660030	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2496G>C; p.R832R; 20:48651555-48651555	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3457G>T; p.E1153*; 20:48645906-48645906	pancreas	carcinoma	Substitution - Nonsense
c.4862G>A; p.R1621Q; 20:48627868-48627868	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.4862G>A; p.R1621Q; 20:48627868-48627868	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1373G>A; p.S458N; 20:48681297-48681297	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3083C>T; p.P1028L; 20:48649522-48649522	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3297G>T; p.Q1099H; 20:48649308-48649308	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4946G>A; p.R1649H; 20:48625919-48625919	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4742T>C; p.V1581A; 20:48629473-48629473	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3133C>T; p.L1045F; 20:48649472-48649472	breast	carcinoma	Substitution - Missense
c.4284C>T; p.Y1428Y; 20:48632623-48632623	pancreas	carcinoma	Substitution - coding silent
c.859C>T; p.Q287*; 20:48700811-48700811	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2883G>A; p.P961P; 20:48650141-48650141	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2883G>A; p.P961P; 20:48650141-48650141	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1094C>A; p.A365D; 20:48691039-48691039	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2883G>A; p.P961P; 20:48650141-48650141	central_nervous_system; brain	glioma	Substitution - coding silent
c.2883G>A; p.P961P; 20:48650141-48650141	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1860C>T; p.N620N; 20:48659940-48659940	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3572C>G; p.S1191C; 20:48644438-48644438	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1998G>T; p.R666S; 20:48657165-48657165	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2630G>A; p.R877H; 20:48651421-48651421	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2592C>T; p.G864G; 20:48651459-48651459	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3348C>T; p.C1116C; 20:48646015-48646015	pancreas	carcinoma	Substitution - coding silent
c.917+2T>G; p.?; 20:48700751-48700751	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.4701C>T; p.I1567I; 20:48629514-48629514	skin	malignant_melanoma	Substitution - coding silent
c.791A>G; p.N264S; 20:48700879-48700879	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2409G>T; p.E803D; 20:48652644-48652644	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.861G>T; p.Q287H; 20:48700809-48700809	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4441C>T; p.P1481S; 20:48632362-48632362	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2056T>C; p.S686P; 20:48657107-48657107	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2282A>G; p.N761S; 20:48653425-48653425	thyroid	other; neoplasm	Substitution - Missense
c.4349_4350AG>AT; p.K1450N; 20:48632557-48632558	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1405G>T; p.A469S; 20:48681265-48681265	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4515C>T; p.Y1505Y; 20:48632288-48632288	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.238C>T; p.R80W; 20:48747862-48747862	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4593+8C>A; p.?; 20:48630720-48630720	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.2831T>A; p.L944Q; 20:48650193-48650193	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2049G>A; p.E683E; 20:48657114-48657114	skin	malignant_melanoma	Substitution - coding silent
c.3046T>A; p.S1016T; 20:48649559-48649559	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3681C>T; p.N1227N; 20:48642410-48642410	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.220G>A; p.A74T; 20:48747880-48747880	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3047C>T; p.S1016L; 20:48649558-48649558	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1925A>C; p.K642T; 20:48658185-48658185	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1098G>T; p.K366N; 20:48691035-48691035	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4128C>T; p.V1376V; 20:48636502-48636502	skin	malignant_melanoma	Substitution - coding silent
c.1435G>A; p.V479I; 20:48681235-48681235	skin	malignant_melanoma	Substitution - Missense
c.2305G>C; p.E769Q; 20:48653402-48653402	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3873C>T; p.T1291T; 20:48639797-48639797	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3531A>G; p.R1177R; 20:48644479-48644479	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4497G>T; p.E1499D; 20:48632306-48632306	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.643G>A; p.G215S; 20:48708400-48708400	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4696C>A; p.P1566T; 20:48629519-48629519	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.643G>A; p.G215S; 20:48708400-48708400	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.820C>T; p.L274L; 20:48700850-48700850	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3793G>A; p.E1265K; 20:48639877-48639877	liver	carcinoma	Substitution - Missense
c.1294C>A; p.R432R; 20:48688697-48688697	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3793G>A; p.E1265K; 20:48639877-48639877	liver	carcinoma	Substitution - Missense
c.984G>A; p.R328R; 20:48692724-48692724	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.3793G>A; p.E1265K; 20:48639877-48639877	liver	carcinoma	Substitution - Missense
c.3793G>A; p.E1265K; 20:48639877-48639877	liver	carcinoma	Substitution - Missense
c.3072C>T; p.T1024T; 20:48649533-48649533	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Substitution - coding silent
c.4691T>C; p.L1564P; 20:48629524-48629524	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3875T>C; p.L1292P; 20:48639795-48639795	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2614A>G; p.K872E; 20:48651437-48651437	skin	malignant_melanoma	Substitution - Missense
c.4485G>A; p.A1495A; 20:48632318-48632318	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4878G>T; p.R1626S; 20:48627607-48627607	pancreas	NS	Substitution - Missense
c.4031C>T; p.A1344V; 20:48636599-48636599	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3736G>A; p.E1246K; 20:48642207-48642207	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3736G>A; p.E1246K; 20:48642207-48642207	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3736G>A; p.E1246K; 20:48642207-48642207	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3736G>A; p.E1246K; 20:48642207-48642207	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4937+7G>A; p.?; 20:48627541-48627541	eye; uveal_tract	malignant_melanoma; mixed	Unknown
c.4125C>T; p.G1375G; 20:48636505-48636505	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4125C>T; p.G1375G; 20:48636505-48636505	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3736G>A; p.E1246K; 20:48642207-48642207	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4125C>T; p.G1375G; 20:48636505-48636505	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.564G>T; p.L188F; 20:48726347-48726347	breast	carcinoma	Substitution - Missense
c.447C>T; p.C149C; 20:48734618-48734618	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2275G>A; p.V759M; 20:48653432-48653432	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.2188_2189insC; p.Y730fs*10; 20:48655310-48655311	prostate	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1092G>A; p.T364T; 20:48691041-48691041	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2067C>A; p.N689K; 20:48657096-48657096	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.414C>T; p.F138F; 20:48745025-48745025	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3089G>A; p.W1030*; 20:48649516-48649516	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2876C>T; p.P959L; 20:48650148-48650148	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1978G>T; p.A660S; 20:48657185-48657185	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.608C>T; p.P203L; 20:48726303-48726303	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1893G>A; p.Q631Q; 20:48658217-48658217	skin	malignant_melanoma	Substitution - coding silent
c.559C>T; p.P187S; 20:48726352-48726352	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.507C>T; p.R169R; 20:48734558-48734558	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.816C>T; p.L272L; 20:48700854-48700854	skin	malignant_melanoma	Substitution - coding silent
c.4422C>T; p.N1474N; 20:48632381-48632381	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2358G>C; p.Q786H; 20:48652695-48652695	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.622G>C; p.E208Q; 20:48708421-48708421	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2907C>A; p.P969P; 20:48650117-48650117	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2324G>A; p.R775Q; 20:48653383-48653383	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2324G>A; p.R775Q; 20:48653383-48653383	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4852G>A; p.D1618N; 20:48627878-48627878	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.664G>A; p.A222T; 20:48708379-48708379	pancreas	carcinoma	Substitution - Missense
c.3627G>A; p.R1209R; 20:48642464-48642464	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1341C>T; p.F447F; 20:48681329-48681329	bone; femur	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2869_2870insC; p.L957fs*50; 20:48650154-48650155	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2869_2870insC; p.L957fs*50; 20:48650154-48650155	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.4544G>A; p.R1515Q; 20:48630777-48630777	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1975G>A; p.V659M; 20:48657188-48657188	prostate	adenoma	Substitution - Missense
c.2049G>C; p.E683D; 20:48657114-48657114	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1975G>A; p.V659M; 20:48657188-48657188	thyroid	other; neoplasm	Substitution - Missense
c.4560G>A; p.T1520T; 20:48630761-48630761	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.669C>G; p.V223V; 20:48708374-48708374	lung	carcinoma; non_small_cell_carcinoma	Substitution - coding silent
c.2793C>A; p.G931G; 20:48650918-48650918	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2926C>G; p.L976V; 20:48650098-48650098	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4818C>T; p.H1606H; 20:48627912-48627912	thyroid	other; neoplasm	Substitution - coding silent
c.2218G>T; p.A740S; 20:48653489-48653489	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.4377C>A; p.A1459A; 20:48632530-48632530	skin	malignant_melanoma	Substitution - coding silent
c.819C>T; p.L273L; 20:48700851-48700851	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2207G>T; p.R736I; 20:48655292-48655292	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2245C>T; p.Q749*; 20:48653462-48653462	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.318C>T; p.I106I; 20:48745121-48745121	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.662C>T; p.P221L; 20:48708381-48708381	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.671A>G; p.Q224R; 20:48708372-48708372	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3762C>T; p.N1254N; 20:48642181-48642181	ovary	other; neoplasm	Substitution - coding silent
c.3356C>A; p.S1119Y; 20:48646007-48646007	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1917C>T; p.I639I; 20:48658193-48658193	skin	malignant_melanoma	Substitution - coding silent
c.4290T>C; p.I1430I; 20:48632617-48632617	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2002A>C; p.I668L; 20:48657161-48657161	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2032C>T; p.L678L; 20:48657131-48657131	skin	malignant_melanoma	Substitution - coding silent
c.309C>G; p.I103M; 20:48745130-48745130	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2563G>A; p.V855M; 20:48651488-48651488	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.309C>G; p.I103M; 20:48745130-48745130	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.251C>A; p.A84D; 20:48747849-48747849	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.4047C>T; p.R1349R; 20:48636583-48636583	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4725G>T; p.L1575L; 20:48629490-48629490	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1594C>T; p.R532C; 20:48676264-48676264	ovary	other; neoplasm	Substitution - Missense
c.4626C>T; p.L1542L; 20:48629589-48629589	thyroid	other; neoplasm	Substitution - coding silent
c.1594C>T; p.R532C; 20:48676264-48676264	ovary	other; neoplasm	Substitution - Missense
c.1167C>A; p.R389R; 20:48690966-48690966	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2159G>T; p.C720F; 20:48655340-48655340	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.3020C>T; p.P1007L; 20:48650004-48650004	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3020C>T; p.P1007L; 20:48650004-48650004	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.253G>A; p.D85N; 20:48747847-48747847	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2631C>T; p.R877R; 20:48651420-48651420	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3358T>G; p.L1120V; 20:48646005-48646005	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2570A>G; p.Y857C; 20:48651481-48651481	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3529C>G; p.R1177G; 20:48644481-48644481	oesophagus	carcinoma	Substitution - Missense
c.1996A>T; p.R666W; 20:48657167-48657167	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4434G>A; p.L1478L; 20:48632369-48632369	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3186G>T; p.R1062R; 20:48649419-48649419	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1524G>A; p.E508E; 20:48679666-48679666	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2550C>A; p.H850Q; 20:48651501-48651501	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2191G>A; p.V731I; 20:48655308-48655308	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2191G>A; p.V731I; 20:48655308-48655308	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4178G>A; p.R1393Q; 20:48634765-48634765	breast	carcinoma	Substitution - Missense
c.1484G>A; p.R495H; 20:48679706-48679706	breast	carcinoma	Substitution - Missense
c.3251C>A; p.T1084N; 20:48649354-48649354	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4419G>A; p.E1473E; 20:48632384-48632384	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.288C>A; p.V96V; 20:48747812-48747812	liver	carcinoma	Substitution - coding silent
c.288C>A; p.V96V; 20:48747812-48747812	liver	carcinoma	Substitution - coding silent
c.2465C>T; p.S822L; 20:48652588-48652588	skin	malignant_melanoma	Substitution - Missense
c.2630G>T; p.R877L; 20:48651421-48651421	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3483C>T; p.H1161H; 20:48645880-48645880	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2922C>G; p.I974M; 20:48650102-48650102	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4934C>T; p.P1645L; 20:48627551-48627551	pancreas	carcinoma	Substitution - Missense
c.4482C>T; p.N1494N; 20:48632321-48632321	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4482C>T; p.N1494N; 20:48632321-48632321	stomach	adenocarcinoma	Substitution - coding silent
c.153C>T; p.L51L; 20:48827708-48827708	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3630C>T; p.I1210I; 20:48642461-48642461	liver	carcinoma	Substitution - coding silent
c.3713G>T; p.G1238V; 20:48642230-48642230	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1456A>G; p.K486E; 20:48679734-48679734	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3630C>T; p.I1210I; 20:48642461-48642461	skin	malignant_melanoma	Substitution - coding silent
c.1746G>A; p.E582E; 20:48660054-48660054	skin	malignant_melanoma	Substitution - coding silent
c.3630C>T; p.I1210I; 20:48642461-48642461	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.1912G>T; p.D638Y; 20:48658198-48658198	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.541C>T; p.R181W; 20:48726370-48726370	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2447A>T; p.E816V; 20:48652606-48652606	skin	malignant_melanoma	Substitution - Missense
c.2846G>A; p.S949N; 20:48650178-48650178	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4252G>A; p.E1418K; 20:48634691-48634691	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1295G>A; p.R432Q; 20:48688696-48688696	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1295G>A; p.R432Q; 20:48688696-48688696	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1295G>A; p.R432Q; 20:48688696-48688696	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1295G>A; p.R432Q; 20:48688696-48688696	breast	carcinoma	Substitution - Missense
c.2600G>T; p.C867F; 20:48651451-48651451	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1167C>T; p.R389R; 20:48690966-48690966	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.347C>G; p.A116G; 20:48745092-48745092	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1053C>T; p.N351N; 20:48691080-48691080	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3129G>A; p.Q1043Q; 20:48649476-48649476	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1053C>T; p.N351N; 20:48691080-48691080	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2815G>T; p.E939*; 20:48650896-48650896	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.4003G>A; p.V1335M; 20:48636627-48636627	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4631G>A; p.R1544H; 20:48629584-48629584	liver	carcinoma	Substitution - Missense
c.4320C>T; p.I1440I; 20:48632587-48632587	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4631G>A; p.R1544H; 20:48629584-48629584	liver	carcinoma	Substitution - Missense
c.4579G>A; p.V1527I; 20:48630742-48630742	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3412A>G; p.R1138G; 20:48645951-48645951	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1316C>A; p.P439H; 20:48688675-48688675	breast	carcinoma	Substitution - Missense
c.1896G>T; p.E632D; 20:48658214-48658214	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.787T>C; p.S263P; 20:48700883-48700883	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1105T>C; p.W369R; 20:48691028-48691028	pancreas	carcinoma	Substitution - Missense
c.2682C>T; p.D894D; 20:48651029-48651029	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.3635C>A; p.S1212Y; 20:48642456-48642456	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.665C>T; p.A222V; 20:48708378-48708378	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3853C>A; p.L1285I; 20:48639817-48639817	pancreas	carcinoma	Substitution - Missense
c.3853C>A; p.L1285I; 20:48639817-48639817	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1632C>T; p.P544P; 20:48676226-48676226	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1608G>A; p.L536L; 20:48676250-48676250	skin	malignant_melanoma	Substitution - coding silent
c.2449G>A; p.E817K; 20:48652604-48652604	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4461G>T; p.E1487D; 20:48632342-48632342	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3188G>T; p.G1063V; 20:48649417-48649417	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.501C>A; p.T167T; 20:48734564-48734564	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4450C>T; p.Q1484*; 20:48632353-48632353	prostate	carcinoma	Substitution - Nonsense
c.4115C>T; p.A1372V; 20:48636515-48636515	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4115C>T; p.A1372V; 20:48636515-48636515	pancreas	carcinoma	Substitution - Missense
c.2616G>C; p.K872N; 20:48651435-48651435	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2616G>C; p.K872N; 20:48651435-48651435	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2692G>A; p.V898M; 20:48651019-48651019	large_intestine; colon	adenoma	Substitution - Missense
c.2616G>C; p.K872N; 20:48651435-48651435	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2616G>C; p.K872N; 20:48651435-48651435	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2616G>C; p.K872N; 20:48651435-48651435	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.354G>T; p.E118D; 20:48745085-48745085	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1209T>C; p.R403R; 20:48688782-48688782	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2650G>T; p.A884S; 20:48651401-48651401	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2691C>T; p.F897F; 20:48651020-48651020	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2691C>T; p.F897F; 20:48651020-48651020	skin	malignant_melanoma	Substitution - coding silent
c.2862A>T; p.Q954H; 20:48650162-48650162	liver	carcinoma	Substitution - Missense
c.3835C>A; p.Q1279K; 20:48639835-48639835	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2862A>T; p.Q954H; 20:48650162-48650162	liver	carcinoma	Substitution - Missense
c.2742G>T; p.M914I; 20:48650969-48650969	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.519+1G>A; p.?; 20:48734545-48734545	skin; scalp	carcinoma; squamous_cell_carcinoma	Unknown
c.712_714delAAT; p.N238delN; 20:48708329-48708331	oesophagus; lower_third	carcinoma; adenocarcinoma	Deletion - In frame
c.4440T>C; p.S1480S; 20:48632363-48632363	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4307C>T; p.A1436V; 20:48632600-48632600	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4121C>T; p.T1374M; 20:48636509-48636509	liver	carcinoma	Substitution - Missense
c.1974+6G>C; p.?; 20:48658130-48658130	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.2331G>A; p.R777R; 20:48653376-48653376	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4686C>T; p.A1562A; 20:48629529-48629529	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2032C>A; p.L678M; 20:48657131-48657131	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2364C>A; p.I788I; 20:48652689-48652689	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.4456G>A; p.A1486T; 20:48632347-48632347	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4654C>A; p.P1552T; 20:48629561-48629561	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3813G>T; p.R1271R; 20:48639857-48639857	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3151G>A; p.G1051R; 20:48649454-48649454	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.1292G>A; p.R431H; 20:48688699-48688699	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.725G>A; p.R242Q; 20:48708318-48708318	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3720C>T; p.V1240V; 20:48642223-48642223	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3035T>G; p.L1012R; 20:48649570-48649570	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1762G>A; p.D588N; 20:48660038-48660038	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1496G>T; p.G499V; 20:48679694-48679694	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2009C>A; p.S670Y; 20:48657154-48657154	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2351T>A; p.L784Q; 20:48652702-48652702	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1379C>A; p.T460K; 20:48681291-48681291	liver	carcinoma	Substitution - Missense
c.1379C>A; p.T460K; 20:48681291-48681291	liver	carcinoma	Substitution - Missense
c.3054C>T; p.T1018T; 20:48649551-48649551	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2956C>T; p.P986S; 20:48650068-48650068	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.233G>A; p.R78H; 20:48747867-48747867	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3812G>A; p.R1271Q; 20:48639858-48639858	oesophagus	carcinoma	Substitution - Missense
c.233G>A; p.R78H; 20:48747867-48747867	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.233G>A; p.R78H; 20:48747867-48747867	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.233G>A; p.R78H; 20:48747867-48747867	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.233G>A; p.R78H; 20:48747867-48747867	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1949C>T; p.S650F; 20:48658161-48658161	skin	malignant_melanoma	Substitution - Missense
c.3182A>T; p.D1061V; 20:48649423-48649423	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4707G>A; p.S1569S; 20:48629508-48629508	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1830G>A; p.Q610Q; 20:48659970-48659970	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2686G>A; p.V896I; 20:48651025-48651025	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2531T>C; p.L844P; 20:48651520-48651520	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2387A>T; p.Q796L; 20:48652666-48652666	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3501C>T; p.R1167R; 20:48645862-48645862	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3402C>T; p.S1134S; 20:48645961-48645961	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4275C>A; p.N1425K; 20:48632632-48632632	liver	carcinoma	Substitution - Missense
c.3552C>A; p.T1184T; 20:48644458-48644458	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1767G>A; p.E589E; 20:48660033-48660033	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2882C>T; p.P961L; 20:48650142-48650142	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1874G>A; p.R625H; 20:48659926-48659926	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3925C>T; p.L1309L; 20:48637732-48637732	breast	carcinoma	Substitution - coding silent
c.1975-1G>A; p.?; 20:48657189-48657189	lung	carcinoma; adenocarcinoma	Unknown
c.4576G>A; p.A1526T; 20:48630745-48630745	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.989G>A; p.R330Q; 20:48692719-48692719	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4917G>T; p.Q1639H; 20:48627568-48627568	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4576G>A; p.A1526T; 20:48630745-48630745	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3725G>T; p.S1242I; 20:48642218-48642218	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4087G>A; p.A1363T; 20:48636543-48636543	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4222A>T; p.N1408Y; 20:48634721-48634721	breast	carcinoma	Substitution - Missense
c.1882-8G>A; p.?; 20:48658236-48658236	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.4297A>G; p.S1433G; 20:48632610-48632610	central_nervous_system; brain	glioma; astrocytoma_Grade_II	Substitution - Missense
c.4911G>A; p.K1637K; 20:48627574-48627574	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.252C>T; p.A84A; 20:48747848-48747848	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4911G>A; p.K1637K; 20:48627574-48627574	skin	malignant_melanoma	Substitution - coding silent
c.2358G>T; p.Q786H; 20:48652695-48652695	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2348G>A; p.G783D; 20:48652705-48652705	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3062G>A; p.C1021Y; 20:48649543-48649543	large_intestine; colon	NS	Substitution - Missense
c.3062G>A; p.C1021Y; 20:48649543-48649543	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2897A>G; p.D966G; 20:48650127-48650127	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3062G>A; p.C1021Y; 20:48649543-48649543	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.183G>A; p.E61E; 20:48827678-48827678	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - coding silent
c.310G>A; p.E104K; 20:48745129-48745129	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.622-1G>A; p.?; 20:48708422-48708422	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.310G>A; p.E104K; 20:48745129-48745129	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1191G>A; p.L397L; 20:48688800-48688800	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2472C>T; p.F824F; 20:48651579-48651579	skin	malignant_melanoma	Substitution - coding silent
c.4370G>A; p.G1457D; 20:48632537-48632537	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.764C>T; p.S255F; 20:48708279-48708279	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.960C>G; p.I320M; 20:48692748-48692748	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4236C>A; p.S1412S; 20:48634707-48634707	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1180C>T; p.R394C; 20:48690953-48690953	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.848C>T; p.A283V; 20:48700822-48700822	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.701G>T; p.C234F; 20:48708342-48708342	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3591G>A; p.E1197E; 20:48644419-48644419	skin	malignant_melanoma	Substitution - coding silent
c.2632G>A; p.G878S; 20:48651419-48651419	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.339C>T; p.F113F; 20:48745100-48745100	skin	malignant_melanoma	Substitution - coding silent
c.2632G>A; p.G878S; 20:48651419-48651419	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2632G>A; p.G878S; 20:48651419-48651419	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3625C>A; p.R1209R; 20:48642466-48642466	large_intestine; colon	NS	Substitution - coding silent
c.2858A>C; p.K953T; 20:48650166-48650166	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3152G>A; p.G1051E; 20:48649453-48649453	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3805C>T; p.R1269C; 20:48639865-48639865	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1219G>A; p.V407I; 20:48688772-48688772	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3423T>C; p.H1141H; 20:48645940-48645940	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3118C>T; p.P1040S; 20:48649487-48649487	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3338G>A; p.G1113D; 20:48646025-48646025	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2095C>T; p.R699C; 20:48657068-48657068	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4594C>T; p.L1532L; 20:48629621-48629621	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3805C>T; p.R1269C; 20:48639865-48639865	skin	malignant_melanoma	Substitution - Missense
c.210C>A; p.F70L; 20:48827651-48827651	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4485G>C; p.A1495A; 20:48632318-48632318	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.957C>T; p.S319S; 20:48692751-48692751	skin	malignant_melanoma	Substitution - coding silent
c.697G>A; p.V233I; 20:48708346-48708346	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1009G>T; p.E337*; 20:48692699-48692699	breast	carcinoma	Substitution - Nonsense
c.4676G>C; p.S1559T; 20:48629539-48629539	thyroid	other; neoplasm	Substitution - Missense
c.4676G>C; p.S1559T; 20:48629539-48629539	thyroid	other; neoplasm	Substitution - Missense
c.3755C>A; p.P1252H; 20:48642188-48642188	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2866C>T; p.P956S; 20:48650158-48650158	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1884C>T; p.I628I; 20:48658226-48658226	skin	malignant_melanoma	Substitution - coding silent
c.2794C>A; p.Q932K; 20:48650917-48650917	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.183G>T; p.E61D; 20:48827678-48827678	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3834C>T; p.I1278I; 20:48639836-48639836	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2385C>T; p.A795A; 20:48652668-48652668	breast	carcinoma	Substitution - coding silent
c.220G>T; p.A74S; 20:48747880-48747880	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4828C>T; p.P1610S; 20:48627902-48627902	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3819G>A; p.L1273L; 20:48639851-48639851	thyroid	carcinoma	Substitution - coding silent
c.4458G>C; p.A1486A; 20:48632345-48632345	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1817G>A; p.S606N; 20:48659983-48659983	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1315C>T; p.P439S; 20:48688676-48688676	skin	malignant_melanoma	Substitution - Missense
c.2872G>A; p.E958K; 20:48650152-48650152	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4792C>A; p.Q1598K; 20:48627938-48627938	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1467G>T; p.Q489H; 20:48679723-48679723	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1840G>A; p.D614N; 20:48659960-48659960	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2280G>C; p.M760I; 20:48653427-48653427	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.771C>T; p.I257I; 20:48708272-48708272	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1663C>A; p.Q555K; 20:48676195-48676195	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3184C>T; p.R1062W; 20:48649421-48649421	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1496G>A; p.G499D; 20:48679694-48679694	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1062C>T; p.T354T; 20:48691071-48691071	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4483G>A; p.A1495T; 20:48632320-48632320	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.4483G>A; p.A1495T; 20:48632320-48632320	stomach	adenocarcinoma	Substitution - Missense
c.3696C>G; p.I1232M; 20:48642247-48642247	breast	carcinoma	Substitution - Missense
c.4483G>A; p.A1495T; 20:48632320-48632320	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4516C>T; p.R1506C; 20:48632287-48632287	haematopoietic_and_lymphoid_tissue; small_intestine	lymphoid_neoplasm; enteropathy_type_T_cell_lymphoma	Substitution - Missense
c.3136C>T; p.H1046Y; 20:48649469-48649469	skin	malignant_melanoma	Substitution - Missense
c.382C>G; p.Q128E; 20:48745057-48745057	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2817+2T>G; p.?; 20:48650892-48650892	skin	malignant_melanoma	Unknown

COSMIC somatic mutation [Top]