Entrez Gene

Basic Information
Gene ID	56999
Name	ADAMTS9
Synonymous	ADAM metallopeptidase with thrombospondin type 1 motif, 9;ADAMTS9;ADAM metallopeptidase with thrombospondin type 1 motif, 9
Definition	A disintegrin and metalloproteinase with thrombospondin motifs 9\|ADAM-TS 9\|ADAM-TS9\|ADAMTS-9\|a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9
Position	3p14.1
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.3040G>A; p.D1014N; 3:64615470-64615470	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4658G>A; p.R1553Q; 3:64561618-64561618	pancreas	carcinoma	Substitution - Missense
c.4658G>A; p.R1553Q; 3:64561618-64561618	breast	carcinoma	Substitution - Missense
c.305T>A; p.L102H; 3:64686779-64686779	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4283C>T; p.P1428L; 3:64594331-64594331	ovary	carcinoma	Substitution - Missense
c.1782G>A; p.W594*; 3:64641922-64641922	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2694G>A; p.R898R; 3:64621233-64621233	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2600C>A; p.S867Y; 3:64622284-64622284	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4658G>A; p.R1553Q; 3:64561618-64561618	liver	carcinoma	Substitution - Missense
c.4658G>A; p.R1553Q; 3:64561618-64561618	liver	carcinoma	Substitution - Missense
c.4209A>G; p.R1403R; 3:64594405-64594405	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5043G>A; p.W1681*; 3:64546779-64546779	skin	malignant_melanoma	Substitution - Nonsense
c.3665delG; p.C1222fs*15; 3:64604004-64604004	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3849C>T; p.I1283I; 3:64602112-64602112	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1982A>G; p.H661R; 3:64633754-64633754	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2319A>T; p.P773P; 3:64631525-64631525	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3402C>T; p.C1134C; 3:64607032-64607032	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2081G>A; p.G694E; 3:64633566-64633566	skin; hand	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1211-1G>T; p.?; 3:64654459-64654459	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.681A>G; p.E227E; 3:64658790-64658790	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1311C>T; p.G437G; 3:64654358-64654358	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4086C>T; p.T1362T; 3:64596923-64596923	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4086C>T; p.T1362T; 3:64596923-64596923	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1211-1G>T; p.?; 3:64654459-64654459	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.2522C>A; p.S841*; 3:64622454-64622454	skin	malignant_melanoma	Substitution - Nonsense
c.4502G>A; p.W1501*; 3:64568390-64568390	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3491C>A; p.S1164*; 3:64604315-64604315	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.3903C>T; p.D1301D; 3:64602058-64602058	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.4044C>T; p.S1348S; 3:64596965-64596965	skin	malignant_melanoma	Substitution - coding silent
c.654A>G; p.T218T; 3:64681226-64681226	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.901G>A; p.A301T; 3:64658570-64658570	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2979A>C; p.S993S; 3:64616005-64616005	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.5793G>T; p.E1931D; 3:64522186-64522186	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5428C>T; p.R1810C; 3:64541188-64541188	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3886C>T; p.P1296S; 3:64602075-64602075	skin	malignant_melanoma	Substitution - Missense
c.5192A>G; p.Y1731C; 3:64541843-64541843	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2969delA; p.K991fs*96; 3:64616015-64616015	large_intestine; colon	carcinoma	Deletion - Frameshift
c.822C>A; p.D274E; 3:64658649-64658649	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5391A>T; p.L1797F; 3:64541225-64541225	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.530G>A; p.R177Q; 3:64681350-64681350	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4201G>T; p.G1401C; 3:64594413-64594413	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2698C>T; p.R900*; 3:64621229-64621229	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3601G>A; p.G1201S; 3:64604068-64604068	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2685A>C; p.Q895H; 3:64622199-64622199	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.5419G>A; p.G1807R; 3:64541197-64541197	central_nervous_system; brain	glioma	Substitution - Missense
c.321G>T; p.Q107H; 3:64686763-64686763	thyroid	other; neoplasm	Substitution - Missense
c.1511A>C; p.Y504S; 3:64649731-64649731	breast	carcinoma	Substitution - Missense
c.5735T>C; p.V1912A; 3:64522244-64522244	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2825C>T; p.A942V; 3:64616159-64616159	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2758C>A; p.R920R; 3:64621169-64621169	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5289G>A; p.L1763L; 3:64541529-64541529	skin	malignant_melanoma	Substitution - coding silent
c.2104C>T; p.R702*; 3:64633543-64633543	endometrium	carcinoma; serous_carcinoma	Substitution - Nonsense
c.2699G>A; p.R900Q; 3:64621228-64621228	skin	malignant_melanoma	Substitution - Missense
c.2699G>A; p.R900Q; 3:64621228-64621228	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2981G>A; p.G994E; 3:64616003-64616003	skin	malignant_melanoma	Substitution - Missense
c.2699G>A; p.R900Q; 3:64621228-64621228	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2699G>A; p.R900Q; 3:64621228-64621228	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2699G>A; p.R900Q; 3:64621228-64621228	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4512C>T; p.G1504G; 3:64568380-64568380	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5016G>A; p.L1672L; 3:64546806-64546806	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3271T>C; p.C1091R; 3:64613428-64613428	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3495T>A; p.C1165*; 3:64604311-64604311	liver	carcinoma	Substitution - Nonsense
c.837G>C; p.K279N; 3:64658634-64658634	central_nervous_system; brain	glioma; astrocytoma_Grade_III	Substitution - Missense
c.3280G>A; p.E1094K; 3:64613419-64613419	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3591T>A; p.T1197T; 3:64604078-64604078	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5508C>A; p.S1836R; 3:64541108-64541108	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.760G>A; p.V254I; 3:64658711-64658711	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2382C>G; p.N794K; 3:64631462-64631462	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5136C>A; p.S1712R; 3:64541899-64541899	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.4235C>T; p.S1412F; 3:64594379-64594379	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5303C>T; p.A1768V; 3:64541404-64541404	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4091A>G; p.N1364S; 3:64596918-64596918	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3618C>T; p.Y1206Y; 3:64604051-64604051	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3098A>G; p.D1033G; 3:64615412-64615412	skin	malignant_melanoma	Substitution - Missense
c.4605C>T; p.T1535T; 3:64561671-64561671	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.740G>A; p.R247K; 3:64658731-64658731	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4837G>A; p.E1613K; 3:64550924-64550924	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5325C>T; p.P1775P; 3:64541382-64541382	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.5325C>T; p.P1775P; 3:64541382-64541382	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1741G>A; p.E581K; 3:64641963-64641963	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5230A>G; p.R1744G; 3:64541588-64541588	thyroid	carcinoma	Substitution - Missense
c.1974C>T; p.D658D; 3:64633762-64633762	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4620C>T; p.Y1540Y; 3:64561656-64561656	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1303G>T; p.E435*; 3:64654366-64654366	breast	carcinoma	Substitution - Nonsense
c.3919C>A; p.H1307N; 3:64602042-64602042	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2212C>T; p.R738W; 3:64631889-64631889	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.4143C>T; p.G1381G; 3:64596866-64596866	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.5519T>G; p.I1840S; 3:64541097-64541097	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.5044A>C; p.R1682R; 3:64546778-64546778	skin	malignant_melanoma	Substitution - coding silent
c.1264G>A; p.E422K; 3:64654405-64654405	skin	malignant_melanoma	Substitution - Missense
c.2506G>A; p.V836I; 3:64622470-64622470	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1054G>T; p.D352Y; 3:64655691-64655691	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5460G>A; p.T1820T; 3:64541156-64541156	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3936G>C; p.E1312D; 3:64602025-64602025	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4247G>A; p.R1416Q; 3:64594367-64594367	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4247G>A; p.R1416Q; 3:64594367-64594367	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4549G>A; p.V1517I; 3:64561727-64561727	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3484T>A; p.L1162I; 3:64604322-64604322	breast	carcinoma	Substitution - Missense
c.2312G>A; p.R771Q; 3:64631532-64631532	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1219G>T; p.E407*; 3:64654450-64654450	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2278A>G; p.N760D; 3:64631823-64631823	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4605C>A; p.T1535T; 3:64561671-64561671	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4323C>T; p.H1441H; 3:64594291-64594291	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4605C>A; p.T1535T; 3:64561671-64561671	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5745C>T; p.C1915C; 3:64522234-64522234	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1755C>T; p.P585P; 3:64641949-64641949	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.50T>C; p.L17P; 3:64687608-64687608	liver	carcinoma	Substitution - Missense
c.3619G>A; p.V1207I; 3:64604050-64604050	haematopoietic_and_lymphoid_tissue; central_nervous_system	lymphoid_neoplasm; primary_central_nervous_system_lymphoma	Substitution - Missense
c.2455G>A; p.E819K; 3:64622521-64622521	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2158G>C; p.V720L; 3:64633489-64633489	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3244G>A; p.G1082S; 3:64613455-64613455	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.865T>A; p.L289I; 3:64658606-64658606	skin	malignant_melanoma	Substitution - Missense
c.3675G>C; p.L1225L; 3:64603994-64603994	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3823C>T; p.R1275W; 3:64602138-64602138	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2309T>C; p.V770A; 3:64631535-64631535	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2118A>T; p.I706I; 3:64633529-64633529	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1698C>T; p.C566C; 3:64647952-64647952	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.5064+1G>A; p.?; 3:64546757-64546757	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Unknown
c.5064+1G>A; p.?; 3:64546757-64546757	stomach	adenocarcinoma	Unknown
c.2194G>C; p.V732L; 3:64631907-64631907	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3821A>C; p.D1274A; 3:64602140-64602140	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.451T>C; p.F151L; 3:64686633-64686633	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2379C>A; p.D793E; 3:64631465-64631465	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1293G>T; p.T431T; 3:64654376-64654376	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2909G>A; p.G970E; 3:64616075-64616075	skin	malignant_melanoma	Substitution - Missense
c.5798G>A; p.R1933Q; 3:64522181-64522181	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3560G>A; p.R1187Q; 3:64604246-64604246	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2747A>C; p.Q916P; 3:64621180-64621180	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.650C>G; p.S217*; 3:64681230-64681230	breast	carcinoma	Substitution - Nonsense
c.2980G>T; p.G994W; 3:64616004-64616004	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.5027C>T; p.P1676L; 3:64546795-64546795	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5167G>C; p.E1723Q; 3:64541868-64541868	thyroid	other; neoplasm	Substitution - Missense
c.315C>G; p.F105L; 3:64686769-64686769	ovary	other; neoplasm	Substitution - Missense
c.4539T>G; p.C1513W; 3:64561737-64561737	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3497A>G; p.H1166R; 3:64604309-64604309	skin	malignant_melanoma	Substitution - Missense
c.1865delA; p.N622fs*7; 3:64633871-64633871	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.89G>T; p.R30L; 3:64687569-64687569	skin	malignant_melanoma	Substitution - Missense
c.3262G>A; p.D1088N; 3:64613437-64613437	skin	malignant_melanoma	Substitution - Missense
c.1232T>G; p.I411S; 3:64654437-64654437	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4414G>C; p.D1472H; 3:64568478-64568478	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3372A>T; p.G1124G; 3:64607062-64607062	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4414G>C; p.D1472H; 3:64568478-64568478	skin	malignant_melanoma	Substitution - Missense
c.4058T>C; p.V1353A; 3:64596951-64596951	skin	malignant_melanoma	Substitution - Missense
c.1232T>G; p.I411S; 3:64654437-64654437	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1675C>T; p.P559S; 3:64647975-64647975	skin	malignant_melanoma	Substitution - Missense
c.1502C>A; p.S501Y; 3:64649740-64649740	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1070C>A; p.S357Y; 3:64655675-64655675	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3652G>A; p.D1218N; 3:64604017-64604017	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4004G>C; p.G1335A; 3:64601957-64601957	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1822A>G; p.I608V; 3:64641882-64641882	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4568G>A; p.G1523D; 3:64561708-64561708	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1133G>T; p.G378V; 3:64655612-64655612	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1945T>A; p.F649I; 3:64633791-64633791	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1133G>T; p.G378V; 3:64655612-64655612	large_intestine; colon	carcinoma	Substitution - Missense
c.3814G>A; p.V1272M; 3:64602147-64602147	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3814G>A; p.V1272M; 3:64602147-64602147	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1706G>T; p.G569V; 3:64647944-64647944	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5580C>T; p.A1860A; 3:64539236-64539236	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.343G>A; p.A115T; 3:64686741-64686741	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Substitution - Missense
c.4741G>A; p.V1581M; 3:64551020-64551020	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3200C>T; p.T1067I; 3:64613499-64613499	skin	malignant_melanoma	Substitution - Missense
c.4190T>C; p.L1397P; 3:64594424-64594424	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4825T>G; p.L1609V; 3:64550936-64550936	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3018G>T; p.W1006C; 3:64615966-64615966	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4781G>A; p.R1594H; 3:64550980-64550980	central_nervous_system; brain	glioma	Substitution - Missense
c.2199A>C; p.L733F; 3:64631902-64631902	skin	malignant_melanoma	Substitution - Missense
c.322C>G; p.Q108E; 3:64686762-64686762	thyroid	other; neoplasm	Substitution - Missense
c.2486A>G; p.Y829C; 3:64622490-64622490	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4528T>G; p.S1510A; 3:64561748-64561748	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3396G>A; p.V1132V; 3:64607038-64607038	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.3936G>A; p.E1312E; 3:64602025-64602025	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.245C>T; p.P82L; 3:64686839-64686839	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4890delA; p.G1631fs*42; 3:64546932-64546932	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2496C>T; p.S832S; 3:64622480-64622480	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - coding silent
c.4725C>T; p.S1575S; 3:64551036-64551036	skin	malignant_melanoma	Substitution - coding silent
c.1520C>T; p.P507L; 3:64649722-64649722	skin	malignant_melanoma	Substitution - Missense
c.2766C>T; p.P922P; 3:64621161-64621161	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2174G>T; p.R725L; 3:64633473-64633473	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5698T>C; p.S1900P; 3:64533186-64533186	breast	carcinoma	Substitution - Missense
c.1661G>A; p.R554Q; 3:64647989-64647989	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1837C>T; p.R613*; 3:64641867-64641867	skin	malignant_melanoma	Substitution - Nonsense
c.3014C>T; p.A1005V; 3:64615970-64615970	breast	carcinoma; HER-positive_carcinoma	Substitution - Missense
c.1387G>A; p.A463T; 3:64651093-64651093	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.929G>A; p.G310E; 3:64658542-64658542	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.739A>G; p.R247G; 3:64658732-64658732	pancreas	carcinoma	Substitution - Missense
c.216G>A; p.T72T; 3:64686868-64686868	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1939C>T; p.R647*; 3:64633797-64633797	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.677C>G; p.S226*; 3:64681203-64681203	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1349G>T; p.C450F; 3:64651131-64651131	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1293G>A; p.T431T; 3:64654376-64654376	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3655G>A; p.E1219K; 3:64604014-64604014	skin	malignant_melanoma	Substitution - Missense
c.1502C>T; p.S501F; 3:64649740-64649740	skin	malignant_melanoma	Substitution - Missense
c.4272T>C; p.I1424I; 3:64594342-64594342	stomach	adenocarcinoma	Substitution - coding silent
c.4885G>A; p.G1629R; 3:64546937-64546937	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1859C>A; p.P620Q; 3:64633877-64633877	skin	malignant_melanoma	Substitution - Missense
c.2759G>A; p.R920Q; 3:64621168-64621168	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.5420G>A; p.G1807E; 3:64541196-64541196	skin	malignant_melanoma	Substitution - Missense
c.366A>G; p.P122P; 3:64686718-64686718	kidney	other; neoplasm	Substitution - coding silent
c.2982G>T; p.G994G; 3:64616002-64616002	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.250C>T; p.P84S; 3:64686834-64686834	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4623C>A; p.T1541T; 3:64561653-64561653	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.199G>T; p.V67F; 3:64686885-64686885	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3758C>A; p.T1253N; 3:64602203-64602203	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.4408G>A; p.A1470T; 3:64568484-64568484	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4874C>T; p.S1625L; 3:64546948-64546948	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3758C>A; p.T1253N; 3:64602203-64602203	liver	carcinoma	Substitution - Missense
c.733G>T; p.G245*; 3:64658738-64658738	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5709G>A; p.K1903K; 3:64533175-64533175	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.1769C>T; p.S590F; 3:64641935-64641935	skin	malignant_melanoma	Substitution - Missense
c.1684G>A; p.D562N; 3:64647966-64647966	skin	malignant_melanoma	Substitution - Missense
c.2283A>G; p.T761T; 3:64631818-64631818	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.756T>G; p.G252G; 3:64658715-64658715	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2687-1G>A; p.?; 3:64621241-64621241	liver	carcinoma	Unknown
c.2687-1G>A; p.?; 3:64621241-64621241	liver	carcinoma	Unknown
c.2018G>A; p.W673*; 3:64633718-64633718	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2006C>T; p.P669L; 3:64633730-64633730	NS	malignant_melanoma	Substitution - Missense
c.3943C>T; p.R1315C; 3:64602018-64602018	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3250G>T; p.D1084Y; 3:64613449-64613449	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1164A>T; p.L388F; 3:64655581-64655581	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2006C>T; p.P669L; 3:64633730-64633730	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.3608G>A; p.R1203Q; 3:64604061-64604061	skin	malignant_melanoma	Substitution - Missense
c.2006C>T; p.P669L; 3:64633730-64633730	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.2531G>A; p.R844H; 3:64622445-64622445	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5226A>T; p.V1742V; 3:64541592-64541592	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3508G>A; p.A1170T; 3:64604298-64604298	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.631G>A; p.A211T; 3:64681249-64681249	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3508G>A; p.A1170T; 3:64604298-64604298	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2531G>A; p.R844H; 3:64622445-64622445	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4048C>T; p.R1350W; 3:64596961-64596961	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2531G>A; p.R844H; 3:64622445-64622445	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.870C>G; p.S290S; 3:64658601-64658601	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.3343C>T; p.P1115S; 3:64613356-64613356	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Substitution - Missense
c.5688T>G; p.N1896K; 3:64533196-64533196	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.637C>T; p.Q213*; 3:64681243-64681243	skin	malignant_melanoma	Substitution - Nonsense
c.1136G>A; p.G379E; 3:64655609-64655609	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5276G>A; p.R1759K; 3:64541542-64541542	skin	malignant_melanoma	Substitution - Missense
c.4487G>A; p.G1496E; 3:64568405-64568405	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.361G>T; p.A121S; 3:64686723-64686723	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5188G>T; p.V1730F; 3:64541847-64541847	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5088A>G; p.G1696G; 3:64541947-64541947	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2530C>T; p.R844C; 3:64622446-64622446	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2191C>T; p.H731Y; 3:64631910-64631910	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2530C>T; p.R844C; 3:64622446-64622446	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1896G>A; p.M632I; 3:64633840-64633840	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4294G>A; p.E1432K; 3:64594320-64594320	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3559C>T; p.R1187*; 3:64604247-64604247	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1995C>T; p.N665N; 3:64633741-64633741	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4294G>A; p.E1432K; 3:64594320-64594320	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3205G>A; p.G1069R; 3:64613494-64613494	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2679C>T; p.P893P; 3:64622205-64622205	skin	malignant_melanoma	Substitution - coding silent
c.4643A>G; p.D1548G; 3:64561633-64561633	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1730G>T; p.C577F; 3:64641974-64641974	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.4292G>A; p.R1431H; 3:64594322-64594322	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.541G>T; p.G181W; 3:64681339-64681339	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4696G>A; p.E1566K; 3:64561580-64561580	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3542C>A; p.A1181E; 3:64604264-64604264	breast	carcinoma	Substitution - Missense
c.4810C>T; p.R1604C; 3:64550951-64550951	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4810C>T; p.R1604C; 3:64550951-64550951	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2993C>T; p.T998M; 3:64615991-64615991	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1515T>A; p.P505P; 3:64649727-64649727	liver	carcinoma	Substitution - coding silent
c.4052G>A; p.R1351H; 3:64596957-64596957	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2011G>T; p.V671L; 3:64633725-64633725	skin	malignant_melanoma	Substitution - Missense
c.4325A>G; p.D1442G; 3:64594289-64594289	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2046G>A; p.M682I; 3:64633601-64633601	skin	malignant_melanoma	Substitution - Missense
c.5231G>T; p.R1744I; 3:64541587-64541587	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1766G>A; p.G589E; 3:64641938-64641938	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2929G>A; p.D977N; 3:64616055-64616055	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1766G>A; p.G589E; 3:64641938-64641938	skin	malignant_melanoma	Substitution - Missense
c.3654C>T; p.D1218D; 3:64604015-64604015	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3581G>A; p.C1194Y; 3:64604088-64604088	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5474C>T; p.S1825F; 3:64541142-64541142	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5219A>G; p.K1740R; 3:64541599-64541599	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2364G>A; p.G788G; 3:64631480-64631480	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.5749G>A; p.G1917S; 3:64522230-64522230	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4049G>A; p.R1350Q; 3:64596960-64596960	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5749G>A; p.G1917S; 3:64522230-64522230	liver	carcinoma	Substitution - Missense
c.3442T>C; p.C1148R; 3:64606992-64606992	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1299C>T; p.A433A; 3:64654370-64654370	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1964C>A; p.A655D; 3:64633772-64633772	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1706G>C; p.G569A; 3:64647944-64647944	central_nervous_system; brain	glioma	Substitution - Missense
c.320A>T; p.Q107L; 3:64686764-64686764	thyroid	other; neoplasm	Substitution - Missense
c.1706G>C; p.G569A; 3:64647944-64647944	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3469A>G; p.T1157A; 3:64606965-64606965	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4717G>A; p.E1573K; 3:64551044-64551044	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3034A>C; p.S1012R; 3:64615476-64615476	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3344C>T; p.P1115L; 3:64613355-64613355	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5779G>A; p.G1927S; 3:64522200-64522200	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2564C>T; p.S855L; 3:64622320-64622320	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4757A>G; p.N1586S; 3:64551004-64551004	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.4757A>G; p.N1586S; 3:64551004-64551004	urinary_tract; bladder	carcinoma	Substitution - Missense
c.5268G>A; p.L1756L; 3:64541550-64541550	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.719G>T; p.R240I; 3:64658752-64658752	pancreas	carcinoma	Substitution - Missense
c.1818G>A; p.G606G; 3:64641886-64641886	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2128C>T; p.P710S; 3:64633519-64633519	skin	malignant_melanoma	Substitution - Missense
c.2606A>T; p.N869I; 3:64622278-64622278	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.2008A>G; p.N670D; 3:64633728-64633728	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5429G>A; p.R1810H; 3:64541187-64541187	large_intestine; colon	adenoma	Substitution - Missense
c.1945T>G; p.F649V; 3:64633791-64633791	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1945T>G; p.F649V; 3:64633791-64633791	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4535C>A; p.S1512Y; 3:64561741-64561741	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.5651delC; p.S1884fs*2; 3:64533233-64533233	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2623A>G; p.K875E; 3:64622261-64622261	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1691C>T; p.T564M; 3:64647959-64647959	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2611C>T; p.P871S; 3:64622273-64622273	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3422C>T; p.S1141L; 3:64607012-64607012	breast	carcinoma	Substitution - Missense
c.3513C>T; p.A1171A; 3:64604293-64604293	skin	malignant_melanoma	Substitution - coding silent
c.626G>A; p.R209H; 3:64681254-64681254	breast	carcinoma	Substitution - Missense
c.626G>A; p.R209H; 3:64681254-64681254	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.719G>A; p.R240K; 3:64658752-64658752	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3503C>T; p.P1168L; 3:64604303-64604303	skin	malignant_melanoma	Substitution - Missense
c.3127G>A; p.V1043I; 3:64615383-64615383	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Substitution - Missense
c.1453G>A; p.E485K; 3:64651027-64651027	skin	malignant_melanoma	Substitution - Missense
c.2643G>T; p.W881C; 3:64622241-64622241	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4753G>C; p.D1585H; 3:64551008-64551008	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.198C>G; p.N66K; 3:64686886-64686886	prostate	carcinoma	Substitution - Missense
c.1118C>T; p.S373L; 3:64655627-64655627	skin	malignant_melanoma	Substitution - Missense
c.866delT; p.L289fs*7; 3:64658605-64658605	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1118C>T; p.S373L; 3:64655627-64655627	skin	malignant_melanoma	Substitution - Missense
c.2345G>A; p.R782Q; 3:64631499-64631499	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1460delT; p.L487fs*1; 3:64651020-64651020	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.558A>C; p.E186D; 3:64681322-64681322	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3725G>T; p.W1242L; 3:64603944-64603944	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4253C>T; p.P1418L; 3:64594361-64594361	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2612C>T; p.P871L; 3:64622272-64622272	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4495C>T; p.P1499S; 3:64568397-64568397	breast	carcinoma	Substitution - Missense
c.2973delA; p.K991fs*96; 3:64616011-64616011	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.5447G>A; p.R1816Q; 3:64541169-64541169	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4630G>T; p.E1544*; 3:64561646-64561646	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.4387C>T; p.Q1463*; 3:64568505-64568505	prostate	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2188G>A; p.D730N; 3:64631913-64631913	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5491A>T; p.R1831*; 3:64541125-64541125	kidney	other; neoplasm	Substitution - Nonsense
c.1097_1098insA; p.N366fs*18; 3:64655647-64655648	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2188G>A; p.D730N; 3:64631913-64631913	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4603A>G; p.T1535A; 3:64561673-64561673	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4603A>G; p.T1535A; 3:64561673-64561673	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.545A>C; p.D182A; 3:64681335-64681335	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4603A>G; p.T1535A; 3:64561673-64561673	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3153C>T; p.F1051F; 3:64615357-64615357	skin	malignant_melanoma	Substitution - coding silent
c.3153C>T; p.F1051F; 3:64615357-64615357	skin	malignant_melanoma	Substitution - coding silent
c.3474+3A>G; p.?; 3:64606957-64606957	liver	carcinoma	Unknown
c.4995_4996insC; p.S1666fs*43; 3:64546826-64546827	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3230T>C; p.V1077A; 3:64613469-64613469	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3479G>T; p.C1160F; 3:64604327-64604327	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.4984A>T; p.T1662S; 3:64546838-64546838	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.1052_1053insA; p.D352fs*8; 3:64655792-64655793	liver	carcinoma	Insertion - Frameshift
c.4222G>A; p.V1408I; 3:64594392-64594392	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3035G>T; p.S1012I; 3:64615475-64615475	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.5329G>A; p.E1777K; 3:64541378-64541378	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1156G>A; p.V386I; 3:64655589-64655589	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2355T>A; p.S785R; 3:64631489-64631489	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2675A>G; p.K892R; 3:64622209-64622209	central_nervous_system; brain	glioma	Substitution - Missense
c.2172C>T; p.C724C; 3:64633475-64633475	skin	malignant_melanoma	Substitution - coding silent
c.3371G>A; p.G1124E; 3:64607063-64607063	pancreas	carcinoma	Substitution - Missense
c.5220G>A; p.K1740K; 3:64541598-64541598	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.586G>A; p.D196N; 3:64681294-64681294	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4166G>A; p.G1389D; 3:64596843-64596843	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5548A>G; p.S1850G; 3:64539268-64539268	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3947C>T; p.P1316L; 3:64602014-64602014	skin	malignant_melanoma	Substitution - Missense
c.3951G>A; p.R1317R; 3:64602010-64602010	breast	carcinoma	Substitution - coding silent
c.4936A>T; p.K1646*; 3:64546886-64546886	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3547A>C; p.R1183R; 3:64604259-64604259	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1539C>T; p.I513I; 3:64649703-64649703	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4472G>A; p.R1491K; 3:64568420-64568420	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5739G>T; p.G1913G; 3:64522240-64522240	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3148G>T; p.E1050*; 3:64615362-64615362	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2572A>C; p.K858Q; 3:64622312-64622312	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1065C>T; p.S355S; 3:64655680-64655680	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1296C>T; p.I432I; 3:64654373-64654373	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2461C>T; p.R821C; 3:64622515-64622515	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.911G>T; p.R304I; 3:64658560-64658560	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2030A>G; p.Y677C; 3:64633706-64633706	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.4686G>A; p.E1562E; 3:64561590-64561590	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5678C>T; p.S1893L; 3:64533206-64533206	skin	malignant_melanoma	Substitution - Missense
c.2834G>T; p.S945I; 3:64616150-64616150	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2556+4A>G; p.?; 3:64622416-64622416	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.2556+4A>G; p.?; 3:64622416-64622416	liver	carcinoma	Unknown
c.1619G>T; p.R540L; 3:64648031-64648031	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.5209C>A; p.Q1737K; 3:64541609-64541609	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.5411C>T; p.P1804L; 3:64541205-64541205	skin	malignant_melanoma	Substitution - Missense
c.4933G>A; p.G1645R; 3:64546889-64546889	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5243C>T; p.A1748V; 3:64541575-64541575	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4478G>A; p.C1493Y; 3:64568414-64568414	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3096G>A; p.L1032L; 3:64615414-64615414	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.722C>T; p.A241V; 3:64658749-64658749	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.4802C>T; p.P1601L; 3:64550959-64550959	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1907C>T; p.S636F; 3:64633829-64633829	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4092C>T; p.N1364N; 3:64596917-64596917	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4176A>G; p.G1392G; 3:64596833-64596833	liver	carcinoma	Substitution - coding silent
c.2161C>T; p.Q721*; 3:64633486-64633486	liver	carcinoma	Substitution - Nonsense
c.4711T>A; p.C1571S; 3:64551050-64551050	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4848G>A; p.W1616*; 3:64550913-64550913	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.94G>T; p.D32Y; 3:64687564-64687564	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5292G>A; p.K1764K; 3:64541526-64541526	skin	malignant_melanoma	Substitution - coding silent
c.625C>T; p.R209C; 3:64681255-64681255	breast	carcinoma	Substitution - Missense
c.5171G>A; p.R1724Q; 3:64541864-64541864	skin	malignant_melanoma	Substitution - Missense
c.2249C>A; p.S750Y; 3:64631852-64631852	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.625C>T; p.R209C; 3:64681255-64681255	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.2968G>A; p.E990K; 3:64616016-64616016	skin	malignant_melanoma	Substitution - Missense
c.2249C>A; p.S750Y; 3:64631852-64631852	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1530G>T; p.L510L; 3:64649712-64649712	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2594G>A; p.R865H; 3:64622290-64622290	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2968G>A; p.E990K; 3:64616016-64616016	liver	carcinoma	Substitution - Missense
c.3345C>T; p.P1115P; 3:64613354-64613354	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5265C>T; p.F1755F; 3:64541553-64541553	skin; arm	malignant_melanoma	Substitution - coding silent
c.974C>T; p.A325V; 3:64655871-64655871	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5581G>T; p.G1861W; 3:64539235-64539235	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2817G>A; p.W939*; 3:64616167-64616167	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Nonsense
c.3813C>T; p.H1271H; 3:64602148-64602148	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2467G>T; p.G823W; 3:64622509-64622509	skin	malignant_melanoma	Substitution - Missense
c.2426G>A; p.G809E; 3:64622550-64622550	skin	malignant_melanoma	Substitution - Missense
c.3569C>A; p.S1190Y; 3:64604237-64604237	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5424C>A; p.S1808R; 3:64541192-64541192	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5183G>T; p.R1728L; 3:64541852-64541852	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5446C>T; p.R1816W; 3:64541170-64541170	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2656C>T; p.P886S; 3:64622228-64622228	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2627C>A; p.P876H; 3:64622257-64622257	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2593C>T; p.R865C; 3:64622291-64622291	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4926T>A; p.I1642I; 3:64546896-64546896	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.3792G>A; p.M1264I; 3:64602169-64602169	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5459C>T; p.T1820M; 3:64541157-64541157	skin	malignant_melanoma	Substitution - Missense
c.1949G>A; p.R650Q; 3:64633787-64633787	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1492G>A; p.E498K; 3:64649750-64649750	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.315C>T; p.F105F; 3:64686769-64686769	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1439G>A; p.R480Q; 3:64651041-64651041	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1439G>A; p.R480Q; 3:64651041-64651041	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1883T>G; p.V628G; 3:64633853-64633853	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.5097G>T; p.Q1699H; 3:64541938-64541938	prostate	carcinoma	Substitution - Missense
c.3216T>G; p.H1072Q; 3:64613483-64613483	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2346G>A; p.R782R; 3:64631498-64631498	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4140C>T; p.S1380S; 3:64596869-64596869	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1135G>T; p.G379*; 3:64655610-64655610	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense

COSMIC somatic mutation [Top]