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 summary:	Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72

Mutation summary in protein domains

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Loss of Function mutations compare to missense mutations

Top

The ratio of the loss-of-function mutations over missense mutations is 0.11.

The copy number variations for various cancers

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

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

Mutation summary in protein domains

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The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

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Loss of Function mutations compare to missense mutations

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The copy number variations for various cancers

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COSMIC somatic mutation [Top]