Entrez Gene

Basic Information
Gene ID	7173
Name	TPO
Synonymous	thyroid peroxidase;TPO;thyroid peroxidase
Definition	thyroid microsomal antigen\|thyroperoxidase
Position	2p25
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.482+2T>C; p.?; 2:1436386-1436386	breast	carcinoma	Unknown
c.2356G>T; p.G786*; 2:1496735-1496735	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.763G>A; p.G255R; 2:1456226-1456226	skin	malignant_melanoma	Substitution - Missense
c.1669A>T; p.N557Y; 2:1487892-1487892	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.1403G>A; p.G468D; 2:1484660-1484660	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.908C>T; p.A303V; 2:1477174-1477174	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.321G>A; p.L107L; 2:1433579-1433579	skin	malignant_melanoma	Substitution - coding silent
c.1705A>C; p.N569H; 2:1487928-1487928	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2558C>T; p.S853L; 2:1516922-1516922	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2558C>T; p.S853L; 2:1516922-1516922	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2558C>T; p.S853L; 2:1516922-1516922	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2558C>T; p.S853L; 2:1516922-1516922	skin	malignant_melanoma	Substitution - Missense
c.1381G>A; p.E461K; 2:1484638-1484638	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.95-7T>A; p.?; 2:1423038-1423038	ovary	other; neoplasm	Unknown
c.457C>A; p.P153T; 2:1436359-1436359	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.579C>T; p.P193P; 2:1453790-1453790	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.95-7T>A; p.?; 2:1423038-1423038	ovary	other; neoplasm	Unknown
c.1709C>A; p.S570Y; 2:1487932-1487932	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1966C>T; p.L656F; 2:1493999-1493999	pancreas	carcinoma	Substitution - Missense
c.1851C>A; p.S617R; 2:1493884-1493884	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1109G>A; p.R370H; 2:1477375-1477375	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1353G>A; p.R451R; 2:1484610-1484610	skin	malignant_melanoma	Substitution - coding silent
c.72G>A; p.S24S; 2:1414480-1414480	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1082G>A; p.R361H; 2:1477348-1477348	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.611C>T; p.P204L; 2:1453822-1453822	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1586T>A; p.L529*; 2:1484843-1484843	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1353G>A; p.R451R; 2:1484610-1484610	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2419C>T; p.P807S; 2:1503980-1503980	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.839C>T; p.P280L; 2:1477105-1477105	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1353G>A; p.R451R; 2:1484610-1484610	skin	malignant_melanoma	Substitution - coding silent
c.542A>G; p.Y181C; 2:1453753-1453753	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1345A>T; p.T449S; 2:1484602-1484602	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2476G>A; p.A826T; 2:1504037-1504037	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2476G>A; p.A826T; 2:1504037-1504037	skin	malignant_melanoma	Substitution - Missense
c.2059G>C; p.E687Q; 2:1496041-1496041	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2476G>A; p.A826T; 2:1504037-1504037	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1062G>A; p.A354A; 2:1477328-1477328	pancreas	carcinoma	Substitution - coding silent
c.2476G>A; p.A826T; 2:1504037-1504037	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2212C>G; p.Q738E; 2:1496194-1496194	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2212C>G; p.Q738E; 2:1496194-1496194	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.856T>A; p.C286S; 2:1477122-1477122	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2656G>A; p.E886K; 2:1540631-1540631	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2574G>A; p.L858L; 2:1516938-1516938	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.165C>A; p.Y55*; 2:1423115-1423115	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2209C>A; p.P737T; 2:1496191-1496191	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2300C>T; p.S767F; 2:1496679-1496679	NS	malignant_melanoma	Substitution - Missense
c.349G>A; p.D117N; 2:1433607-1433607	skin	malignant_melanoma	Substitution - Missense
c.2300C>T; p.S767F; 2:1496679-1496679	NS	malignant_melanoma	Substitution - Missense
c.349G>A; p.D117N; 2:1433607-1433607	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.566G>A; p.R189Q; 2:1453777-1453777	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.566G>A; p.R189Q; 2:1453777-1453777	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1998C>T; p.D666D; 2:1494031-1494031	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1069C>T; p.R357W; 2:1477335-1477335	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1998C>T; p.D666D; 2:1494031-1494031	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.972G>A; p.L324L; 2:1477238-1477238	skin	malignant_melanoma	Substitution - coding silent
c.2430C>T; p.A810A; 2:1503991-1503991	skin	malignant_melanoma	Substitution - coding silent
c.1193G>C; p.S398T; 2:1477459-1477459	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.143G>A; p.R48H; 2:1423093-1423093	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2306G>T; p.R769L; 2:1496685-1496685	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1193G>C; p.S398T; 2:1477459-1477459	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1193G>C; p.S398T; 2:1477459-1477459	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1193G>C; p.S398T; 2:1477459-1477459	central_nervous_system; cerebellum	glioma; ependymoma	Substitution - Missense
c.2242G>A; p.V748M; 2:1496621-1496621	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.479A>G; p.N160S; 2:1436381-1436381	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.479A>G; p.N160S; 2:1436381-1436381	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1755C>A; p.D585E; 2:1487978-1487978	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.456G>T; p.R152S; 2:1436358-1436358	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.456G>T; p.R152S; 2:1436358-1436358	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.108G>T; p.E36D; 2:1423058-1423058	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.51A>G; p.E17E; 2:1414459-1414459	skin	malignant_melanoma	Substitution - coding silent
c.2367C>T; p.F789F; 2:1496746-1496746	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1670A>G; p.N557S; 2:1487893-1487893	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1670A>G; p.N557S; 2:1487893-1487893	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1670A>G; p.N557S; 2:1487893-1487893	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2463C>T; p.F821F; 2:1504024-1504024	skin	malignant_melanoma	Substitution - coding silent
c.1669A>G; p.N557D; 2:1487892-1487892	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2228G>T; p.G743V; 2:1496607-1496607	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1818C>T; p.P606P; 2:1493851-1493851	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1669A>G; p.N557D; 2:1487892-1487892	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.965C>T; p.S322L; 2:1477231-1477231	skin	malignant_melanoma	Substitution - Missense
c.965C>T; p.S322L; 2:1477231-1477231	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.965C>T; p.S322L; 2:1477231-1477231	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.826G>A; p.E276K; 2:1477092-1477092	skin	malignant_melanoma	Substitution - Missense
c.2764G>A; p.E922K; 2:1542436-1542436	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1032C>A; p.T344T; 2:1477298-1477298	liver	carcinoma	Substitution - coding silent
c.1032C>A; p.T344T; 2:1477298-1477298	liver	carcinoma	Substitution - coding silent
c.126C>A; p.V42V; 2:1423076-1423076	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.82G>A; p.E28K; 2:1414490-1414490	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - Missense
c.2421delC; p.C808fs*24; 2:1503982-1503982	pancreas	NS	Deletion - Frameshift
c.2480A>T; p.D827V; 2:1504041-1504041	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1666A>G; p.M556V; 2:1487889-1487889	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.82G>A; p.E28K; 2:1414490-1414490	skin; arm	malignant_melanoma	Substitution - Missense
c.1282T>A; p.W428R; 2:1477548-1477548	urinary_tract; bladder	carcinoma	Substitution - Missense
c.712G>A; p.D238N; 2:1456175-1456175	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2041G>T; p.A681S; 2:1496023-1496023	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.133G>A; p.E45K; 2:1423083-1423083	skin	malignant_melanoma	Substitution - Missense
c.712G>A; p.D238N; 2:1456175-1456175	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.133G>A; p.E45K; 2:1423083-1423083	skin	malignant_melanoma	Substitution - Missense
c.2070C>A; p.S690S; 2:1496052-1496052	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.133G>A; p.E45K; 2:1423083-1423083	skin	malignant_melanoma	Substitution - Missense
c.2650A>G; p.I884V; 2:1540625-1540625	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.157G>A; p.A53T; 2:1423107-1423107	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.435T>A; p.T145T; 2:1436337-1436337	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1520G>A; p.S507N; 2:1484777-1484777	ovary	carcinoma	Substitution - Missense
c.157G>A; p.A53T; 2:1423107-1423107	breast	carcinoma	Substitution - Missense
c.2704G>A; p.V902I; 2:1540679-1540679	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.723C>T; p.I241I; 2:1456186-1456186	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1657G>A; p.D553N; 2:1487880-1487880	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2704G>A; p.V902I; 2:1540679-1540679	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma	Substitution - Missense
c.2523C>T; p.S841S; 2:1516887-1516887	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2704G>A; p.V902I; 2:1540679-1540679	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2704G>A; p.V902I; 2:1540679-1540679	central_nervous_system; brainstem	primitive_neuroectodermal_tumour-medulloblastoma; WNT_subtype	Substitution - Missense
c.2518G>T; p.D840Y; 2:1504079-1504079	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1399G>A; p.V467M; 2:1484656-1484656	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2481_2482CC>TT; p.P828S; 2:1504042-1504043	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2489A>T; p.E830V; 2:1504050-1504050	pancreas	carcinoid-endocrine_tumour	Substitution - Missense
c.477_478CA>AC; p.N159_N160>KH; 2:1436379-1436380	skin; head_neck	carcinoma; squamous_cell_carcinoma	Complex - compound substitution
c.1399G>A; p.V467M; 2:1484656-1484656	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.291A>G; p.S97S; 2:1433549-1433549	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1399G>A; p.V467M; 2:1484656-1484656	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1189G>A; p.A397T; 2:1477455-1477455	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2145C>T; p.P715P; 2:1496127-1496127	prostate	carcinoma	Substitution - coding silent
c.2145C>T; p.P715P; 2:1496127-1496127	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2145C>T; p.P715P; 2:1496127-1496127	skin	malignant_melanoma	Substitution - coding silent
c.2145C>T; p.P715P; 2:1496127-1496127	thyroid	other; neoplasm	Substitution - coding silent
c.2145C>T; p.P715P; 2:1496127-1496127	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.674G>A; p.R225H; 2:1456137-1456137	liver	carcinoma	Substitution - Missense
c.888C>T; p.C296C; 2:1477154-1477154	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1650G>T; p.Q550H; 2:1487873-1487873	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2119G>A; p.D707N; 2:1496101-1496101	skin	malignant_melanoma	Substitution - Missense
c.674G>A; p.R225H; 2:1456137-1456137	central_nervous_system; brain	glioma	Substitution - Missense
c.2119G>A; p.D707N; 2:1496101-1496101	skin	malignant_melanoma	Substitution - Missense
c.674G>A; p.R225H; 2:1456137-1456137	liver	carcinoma	Substitution - Missense
c.2741C>T; p.S914L; 2:1540716-1540716	skin	malignant_melanoma	Substitution - Missense
c.762G>T; p.G254G; 2:1456225-1456225	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1848G>T; p.R616S; 2:1493881-1493881	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2664C>T; p.G888G; 2:1540639-1540639	breast	carcinoma	Substitution - coding silent
c.2543C>A; p.T848N; 2:1516907-1516907	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2664C>T; p.G888G; 2:1540639-1540639	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2790G>A; p.P930P; 2:1542462-1542462	endometrium	carcinoma; serous_carcinoma	Substitution - coding silent
c.2044C>T; p.Q682*; 2:1496026-1496026	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2790G>A; p.P930P; 2:1542462-1542462	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2356G>A; p.G786R; 2:1496735-1496735	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2790G>A; p.P930P; 2:1542462-1542462	skin	malignant_melanoma	Substitution - coding silent
c.802C>G; p.P268A; 2:1456265-1456265	pancreas	NS	Substitution - Missense
c.1840G>A; p.A614T; 2:1493873-1493873	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.700G>A; p.G234R; 2:1456163-1456163	skin	malignant_melanoma	Substitution - Missense
c.2338C>T; p.L780F; 2:1496717-1496717	skin	malignant_melanoma	Substitution - Missense
c.1828A>T; p.S610C; 2:1493861-1493861	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.531C>T; p.L177L; 2:1453742-1453742	skin	malignant_melanoma	Substitution - coding silent
c.2332G>C; p.E778Q; 2:1496711-1496711	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.31C>G; p.L11V; 2:1414439-1414439	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.54C>T; p.A18A; 2:1414462-1414462	skin	malignant_melanoma	Substitution - coding silent
c.2676C>G; p.P892P; 2:1540651-1540651	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.1422C>A; p.D474E; 2:1484679-1484679	urinary_tract; bladder	carcinoma	Substitution - Missense
c.724G>A; p.A242T; 2:1456187-1456187	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.724G>A; p.A242T; 2:1456187-1456187	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.455G>A; p.R152K; 2:1436357-1436357	skin	malignant_melanoma	Substitution - Missense
c.2385delA; p.D796fs*2; 2:1496764-1496764	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.2676C>G; p.P892P; 2:1540651-1540651	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2050C>T; p.R684C; 2:1496032-1496032	ovary	carcinoma; clear_cell_carcinoma	Substitution - Missense
c.2038G>A; p.D680N; 2:1496020-1496020	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1690C>T; p.L564F; 2:1487913-1487913	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.113G>A; p.R38H; 2:1423063-1423063	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.236T>G; p.L79R; 2:1433494-1433494	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.556A>T; p.S186C; 2:1453767-1453767	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1885C>T; p.P629S; 2:1493918-1493918	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1897G>A; p.D633N; 2:1493930-1493930	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2430C>A; p.A810A; 2:1503991-1503991	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.392C>G; p.S131C; 2:1436294-1436294	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.883G>A; p.A295T; 2:1477149-1477149	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.883G>A; p.A295T; 2:1477149-1477149	pancreas	carcinoma	Substitution - Missense
c.1837A>C; p.I613L; 2:1493870-1493870	lung	carcinoma; bronchioloalveolar_adenocarcinoma	Substitution - Missense
c.1535C>A; p.P512H; 2:1484792-1484792	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1672G>A; p.E558K; 2:1487895-1487895	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2600C>T; p.S867L; 2:1516964-1516964	skin	malignant_melanoma	Substitution - Missense
c.1672G>A; p.E558K; 2:1487895-1487895	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1990C>G; p.L664V; 2:1494023-1494023	breast	carcinoma	Substitution - Missense
c.180-1G>A; p.?; 2:1433437-1433437	skin	malignant_melanoma	Unknown
c.802C>T; p.P268S; 2:1456265-1456265	skin	malignant_melanoma	Substitution - Missense
c.1854G>A; p.V618V; 2:1493887-1493887	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1764G>A; p.L588L; 2:1487987-1487987	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.585C>A; p.F195L; 2:1453796-1453796	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.834C>T; p.A278A; 2:1477100-1477100	skin	malignant_melanoma	Substitution - coding silent
c.1715C>A; p.T572N; 2:1487938-1487938	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2332G>A; p.E778K; 2:1496711-1496711	skin	malignant_melanoma	Substitution - Missense
c.347C>T; p.T116M; 2:1433605-1433605	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2254G>A; p.D752N; 2:1496633-1496633	skin	malignant_melanoma	Substitution - Missense
c.726G>A; p.A242A; 2:1456189-1456189	pancreas	NS	Substitution - coding silent
c.2422delT; p.C808fs*24; 2:1503983-1503983	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Deletion - Frameshift
c.726G>A; p.A242A; 2:1456189-1456189	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1476C>T; p.F492F; 2:1484733-1484733	skin	malignant_melanoma	Substitution - coding silent
c.170C>T; p.T57M; 2:1423120-1423120	pancreas	carcinoma	Substitution - Missense
c.170C>T; p.T57M; 2:1423120-1423120	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.170C>T; p.T57M; 2:1423120-1423120	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2069C>T; p.S690F; 2:1496051-1496051	skin	malignant_melanoma	Substitution - Missense
c.2343T>G; p.T781T; 2:1496722-1496722	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1465G>A; p.A489T; 2:1484722-1484722	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1990C>T; p.L664L; 2:1494023-1494023	skin	malignant_melanoma	Substitution - coding silent
c.1476C>T; p.F492F; 2:1484733-1484733	skin	malignant_melanoma	Substitution - coding silent
c.2134G>A; p.G712S; 2:1496116-1496116	central_nervous_system; brain	glioma	Substitution - Missense
c.969C>G; p.F323L; 2:1477235-1477235	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1896C>G; p.I632M; 2:1493929-1493929	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.12C>G; p.L4L; 2:1414420-1414420	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.353C>T; p.A118V; 2:1436255-1436255	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1395G>A; p.Q465Q; 2:1484652-1484652	skin	malignant_melanoma	Substitution - coding silent
c.353C>T; p.A118V; 2:1436255-1436255	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2404G>C; p.D802H; 2:1503965-1503965	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2552C>T; p.S851F; 2:1516916-1516916	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2552C>T; p.S851F; 2:1516916-1516916	skin	malignant_melanoma	Substitution - Missense
c.1327G>A; p.A443T; 2:1477593-1477593	liver	carcinoma	Substitution - Missense
c.19C>T; p.L7L; 2:1414427-1414427	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2329C>T; p.R777W; 2:1496708-1496708	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2674C>T; p.P892S; 2:1540649-1540649	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2477C>T; p.A826V; 2:1504038-1504038	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.2477C>T; p.A826V; 2:1504038-1504038	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2477C>T; p.A826V; 2:1504038-1504038	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.174G>A; p.M58I; 2:1423124-1423124	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.711C>T; p.I237I; 2:1456174-1456174	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.844G>A; p.A282T; 2:1477110-1477110	skin	malignant_melanoma	Substitution - Missense
c.1601G>T; p.G534V; 2:1487824-1487824	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1769-2A>G; p.?; 2:1493800-1493800	stomach	carcinoma; intestinal_adenocarcinoma	Unknown
c.2533C>T; p.P845S; 2:1516897-1516897	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.180-6C>A; p.?; 2:1433432-1433432	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.2708G>A; p.G903E; 2:1540683-1540683	skin	malignant_melanoma	Substitution - Missense
c.532C>T; p.P178S; 2:1453743-1453743	skin	malignant_melanoma	Substitution - Missense
c.2640C>T; p.S880S; 2:1540615-1540615	skin	malignant_melanoma	Substitution - coding silent
c.680C>A; p.S227Y; 2:1456143-1456143	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1740G>A; p.L580L; 2:1487963-1487963	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.640C>G; p.Q214E; 2:1456103-1456103	skin	malignant_melanoma	Substitution - Missense
c.2072T>C; p.L691P; 2:1496054-1496054	liver	carcinoma	Substitution - Missense
c.486C>A; p.D162E; 2:1453697-1453697	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.230C>T; p.S77F; 2:1433488-1433488	skin	malignant_melanoma	Substitution - Missense
c.2601G>A; p.S867S; 2:1516965-1516965	pancreas	NS	Substitution - coding silent
c.1477G>A; p.G493S; 2:1484734-1484734	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.414G>T; p.L138L; 2:1436316-1436316	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.716A>G; p.H239R; 2:1456179-1456179	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.230C>T; p.S77F; 2:1433488-1433488	skin; mucosal	malignant_melanoma	Substitution - Missense
c.2195G>C; p.W732S; 2:1496177-1496177	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.519G>T; p.L173L; 2:1453730-1453730	liver	carcinoma	Substitution - coding silent
c.1933C>T; p.P645S; 2:1493966-1493966	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2093A>C; p.N698T; 2:1496075-1496075	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.517C>A; p.L173M; 2:1453728-1453728	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1256C>T; p.A419V; 2:1477522-1477522	pancreas	carcinoma	Substitution - Missense
c.2722C>T; p.R908W; 2:1540697-1540697	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1369A>T; p.I457F; 2:1484626-1484626	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2722C>T; p.R908W; 2:1540697-1540697	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.276G>C; p.E92D; 2:1433534-1433534	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2488G>A; p.E830K; 2:1504049-1504049	skin	malignant_melanoma	Substitution - Missense
c.2722C>T; p.R908W; 2:1540697-1540697	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2488G>A; p.E830K; 2:1504049-1504049	skin	malignant_melanoma	Substitution - Missense
c.1944G>T; p.R648R; 2:1493977-1493977	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.403C>T; p.P135S; 2:1436305-1436305	skin	malignant_melanoma	Substitution - Missense
c.2488G>A; p.E830K; 2:1504049-1504049	skin	malignant_melanoma	Substitution - Missense
c.2488G>A; p.E830K; 2:1504049-1504049	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2722C>T; p.R908W; 2:1540697-1540697	urinary_tract; bladder	carcinoma	Substitution - Missense
c.695C>T; p.A232V; 2:1456158-1456158	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.896G>A; p.G299E; 2:1477162-1477162	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.208C>A; p.P70T; 2:1433466-1433466	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2798T>A; p.L933H; 2:1542470-1542470	breast	carcinoma	Substitution - Missense
c.2796C>A; p.A932A; 2:1542468-1542468	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2173A>C; p.T725P; 2:1496155-1496155	prostate	carcinoma	Substitution - Missense
c.2118G>A; p.M706I; 2:1496100-1496100	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2173A>C; p.T725P; 2:1496155-1496155	thyroid	other; neoplasm	Substitution - Missense
c.191A>G; p.K64R; 2:1433449-1433449	liver	carcinoma	Substitution - Missense
c.2406C>A; p.D802E; 2:1503967-1503967	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2406C>A; p.D802E; 2:1503967-1503967	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.166G>A; p.A56T; 2:1423116-1423116	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.166G>A; p.A56T; 2:1423116-1423116	pancreas	carcinoma	Substitution - Missense
c.100C>A; p.P34T; 2:1423050-1423050	liver	carcinoma	Substitution - Missense
c.867C>T; p.F289F; 2:1477133-1477133	skin	malignant_melanoma	Substitution - coding silent
c.180-1G>T; p.?; 2:1433437-1433437	stomach	carcinoma; adenocarcinoma	Unknown
c.718G>A; p.D240N; 2:1456181-1456181	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1537G>A; p.D513N; 2:1484794-1484794	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.718G>A; p.D240N; 2:1456181-1456181	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2305C>T; p.R769W; 2:1496684-1496684	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1052G>A; p.R351H; 2:1477318-1477318	pancreas	carcinoma	Substitution - Missense
c.2305C>T; p.R769W; 2:1496684-1496684	pancreas	carcinoma	Substitution - Missense
c.443C>A; p.A148E; 2:1436345-1436345	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2095A>G; p.T699A; 2:1496077-1496077	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.777C>T; p.C259C; 2:1456240-1456240	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1595G>A; p.G532E; 2:1484852-1484852	skin	malignant_melanoma	Substitution - Missense
c.29C>T; p.T10M; 2:1414437-1414437	prostate	carcinoma	Substitution - Missense
c.1260G>A; p.A420A; 2:1477526-1477526	pancreas	carcinoma	Substitution - coding silent
c.1260G>A; p.A420A; 2:1477526-1477526	pancreas	carcinoma	Substitution - coding silent
c.62C>T; p.P21L; 2:1414470-1414470	skin	malignant_melanoma	Substitution - Missense
c.1470C>G; p.F490L; 2:1484727-1484727	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.713A>G; p.D238G; 2:1456176-1456176	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.895G>A; p.G299R; 2:1477161-1477161	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1513G>A; p.D505N; 2:1484770-1484770	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.577C>T; p.P193S; 2:1453788-1453788	skin	malignant_melanoma	Substitution - Missense
c.1080C>T; p.G360G; 2:1477346-1477346	skin	malignant_melanoma	Substitution - coding silent
c.2269G>A; p.E757K; 2:1496648-1496648	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2530C>A; p.L844I; 2:1516894-1516894	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2677G>A; p.E893K; 2:1540652-1540652	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.792G>A; p.E264E; 2:1456255-1456255	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2475C>T; p.C825C; 2:1504036-1504036	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1023G>A; p.R341R; 2:1477289-1477289	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2071C>A; p.L691M; 2:1496053-1496053	skin	malignant_melanoma	Substitution - Missense
c.1839C>T; p.I613I; 2:1493872-1493872	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2343T>A; p.T781T; 2:1496722-1496722	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - coding silent
c.978G>A; p.A326A; 2:1477244-1477244	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.197G>A; p.G66E; 2:1433455-1433455	skin	malignant_melanoma	Substitution - Missense
c.2577C>G; p.I859M; 2:1516941-1516941	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.361G>A; p.E121K; 2:1436263-1436263	skin	malignant_melanoma	Substitution - Missense
c.2006+4C>T; p.?; 2:1494043-1494043	pancreas	carcinoma	Unknown
c.1384G>A; p.A462T; 2:1484641-1484641	skin	malignant_melanoma	Substitution - Missense
c.2414_2415insC; p.C808fs*72; 2:1503975-1503976	large_intestine; rectum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2414_2415insC; p.C808fs*72; 2:1503975-1503976	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.916G>A; p.G306R; 2:1477182-1477182	skin	malignant_melanoma	Substitution - Missense
c.207T>C; p.S69S; 2:1433465-1433465	liver	carcinoma	Substitution - coding silent
c.680C>T; p.S227F; 2:1456143-1456143	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2414_2415insC; p.C808fs*72; 2:1503975-1503976	stomach	carcinoma; diffuse_adenocarcinoma	Insertion - Frameshift
c.207T>C; p.S69S; 2:1433465-1433465	liver	carcinoma	Substitution - coding silent
c.1341C>T; p.I447I; 2:1484598-1484598	skin	malignant_melanoma	Substitution - coding silent
c.2524G>A; p.G842R; 2:1516888-1516888	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2504G>A; p.G835E; 2:1504065-1504065	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2415delC; p.C808fs*24; 2:1503976-1503976	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2415delC; p.C808fs*24; 2:1503976-1503976	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2415delC; p.C808fs*24; 2:1503976-1503976	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1935C>A; p.P645P; 2:1493968-1493968	prostate	carcinoma	Substitution - coding silent
c.2415delC; p.C808fs*24; 2:1503976-1503976	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2415delC; p.C808fs*24; 2:1503976-1503976	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1703C>A; p.S568Y; 2:1487926-1487926	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1312C>T; p.R438C; 2:1477578-1477578	pancreas	carcinoma	Substitution - Missense
c.1455C>A; p.F485L; 2:1484712-1484712	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.112C>T; p.R38C; 2:1423062-1423062	skin	malignant_melanoma	Substitution - Missense
c.112C>T; p.R38C; 2:1423062-1423062	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1312C>T; p.R438C; 2:1477578-1477578	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1671C>T; p.N557N; 2:1487894-1487894	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1727C>T; p.A576V; 2:1487950-1487950	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1804C>T; p.R602C; 2:1493837-1493837	skin	malignant_melanoma	Substitution - Missense
c.2148A>C; p.E716D; 2:1496130-1496130	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2046G>T; p.Q682H; 2:1496028-1496028	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2112G>A; p.V704V; 2:1496094-1496094	oesophagus	carcinoma	Substitution - coding silent
c.2540T>C; p.V847A; 2:1516904-1516904	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2540T>C; p.V847A; 2:1516904-1516904	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2540T>C; p.V847A; 2:1516904-1516904	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2540T>C; p.V847A; 2:1516904-1516904	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2540T>C; p.V847A; 2:1516904-1516904	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2540T>C; p.V847A; 2:1516904-1516904	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2540T>C; p.V847A; 2:1516904-1516904	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1170C>T; p.F390F; 2:1477436-1477436	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2272G>T; p.E758*; 2:1496651-1496651	liver	carcinoma	Substitution - Nonsense
c.2272G>T; p.E758*; 2:1496651-1496651	liver	carcinoma	Substitution - Nonsense
c.1006C>T; p.L336L; 2:1477272-1477272	skin	malignant_melanoma	Substitution - coding silent
c.2278G>A; p.G760R; 2:1496657-1496657	breast	carcinoma	Substitution - Missense
c.2057T>C; p.L686P; 2:1496039-1496039	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2362G>A; p.D788N; 2:1496741-1496741	skin	malignant_melanoma	Substitution - Missense
c.2395G>A; p.E799K; 2:1503956-1503956	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1257G>T; p.A419A; 2:1477523-1477523	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.1620A>G; p.R540R; 2:1487843-1487843	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1695T>C; p.F565F; 2:1487918-1487918	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.328C>T; p.Q110*; 2:1433586-1433586	skin	malignant_melanoma	Substitution - Nonsense
c.1345A>G; p.T449A; 2:1484602-1484602	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2499C>T; p.D833D; 2:1504060-1504060	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2711C>A; p.T904N; 2:1540686-1540686	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2704G>T; p.V902L; 2:1540679-1540679	bone; fibula	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2077C>A; p.R693R; 2:1496059-1496059	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.975C>T; p.D325D; 2:1477241-1477241	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2728G>A; p.A910T; 2:1540703-1540703	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.983C>T; p.T328I; 2:1477249-1477249	skin	malignant_melanoma	Substitution - Missense
c.2728G>A; p.A910T; 2:1540703-1540703	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2684G>A; p.R895K; 2:1540659-1540659	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2728G>A; p.A910T; 2:1540703-1540703	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.512C>T; p.T171M; 2:1453723-1453723	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.188A>G; p.K63R; 2:1433446-1433446	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2059G>T; p.E687*; 2:1496041-1496041	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.512C>T; p.T171M; 2:1453723-1453723	pancreas	carcinoma	Substitution - Missense
c.512C>T; p.T171M; 2:1453723-1453723	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2135G>A; p.G712D; 2:1496117-1496117	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.289T>C; p.S97P; 2:1433547-1433547	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.163T>C; p.Y55H; 2:1423113-1423113	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2500G>A; p.D834N; 2:1504061-1504061	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2500G>A; p.D834N; 2:1504061-1504061	skin	malignant_melanoma	Substitution - Missense
c.793A>C; p.N265H; 2:1456256-1456256	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2619-10T>C; p.?; 2:1540584-1540584	stomach	adenocarcinoma	Unknown
c.1186C>T; p.R396C; 2:1477452-1477452	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.142C>T; p.R48C; 2:1423092-1423092	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.224C>A; p.S75Y; 2:1433482-1433482	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.142C>T; p.R48C; 2:1423092-1423092	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2415_2416insC; p.C808fs*72; 2:1503976-1503977	stomach	carcinoma; intestinal_adenocarcinoma	Insertion - Frameshift
c.188A>C; p.K63T; 2:1433446-1433446	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2482C>T; p.P828S; 2:1504043-1504043	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2142C>T; p.F714F; 2:1496124-1496124	skin; hand	malignant_melanoma	Substitution - coding silent
c.1747G>A; p.G583S; 2:1487970-1487970	skin	malignant_melanoma	Substitution - Missense
c.1950G>A; p.G650G; 2:1493983-1493983	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1431C>A; p.A477A; 2:1484688-1484688	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.617G>T; p.R206L; 2:1456080-1456080	urinary_tract; bladder	carcinoma	Substitution - Missense
c.299C>T; p.A100V; 2:1433557-1433557	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2283G>T; p.R761S; 2:1496662-1496662	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1966C>G; p.L656V; 2:1493999-1493999	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.585C>T; p.F195F; 2:1453796-1453796	skin	malignant_melanoma	Substitution - coding silent
c.939G>A; p.P313P; 2:1477205-1477205	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1117G>T; p.A373S; 2:1477383-1477383	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2357G>A; p.G786E; 2:1496736-1496736	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1521C>G; p.S507R; 2:1484778-1484778	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1117G>T; p.A373S; 2:1477383-1477383	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1117G>T; p.A373S; 2:1477383-1477383	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1117G>T; p.A373S; 2:1477383-1477383	thyroid	other; neoplasm	Substitution - Missense
c.2357G>A; p.G786E; 2:1496736-1496736	skin	malignant_melanoma	Substitution - Missense
c.1576C>A; p.P526T; 2:1484833-1484833	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.103G>A; p.E35K; 2:1423053-1423053	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.664G>A; p.D222N; 2:1456127-1456127	skin	malignant_melanoma	Substitution - Missense
c.103G>A; p.E35K; 2:1423053-1423053	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2421_2422insC; p.C808fs*72; 2:1503982-1503983	pancreas	NS	Insertion - Frameshift
c.1960G>T; p.A654S; 2:1493993-1493993	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2503G>A; p.G835R; 2:1504064-1504064	skin	malignant_melanoma	Substitution - Missense
c.768G>A; p.G256G; 2:1456231-1456231	liver	carcinoma	Substitution - coding silent
c.768G>A; p.G256G; 2:1456231-1456231	liver	carcinoma	Substitution - coding silent
c.2414A>T; p.H805L; 2:1503975-1503975	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1865T>A; p.I622N; 2:1493898-1493898	pancreas	NS	Substitution - Missense
c.443C>T; p.A148V; 2:1436345-1436345	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1497G>A; p.P499P; 2:1484754-1484754	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.76G>A; p.G26R; 2:1414484-1414484	skin; mucosal	malignant_melanoma	Substitution - Missense
c.527G>A; p.W176*; 2:1453738-1453738	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1753G>A; p.D585N; 2:1487976-1487976	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2252G>A; p.G751E; 2:1496631-1496631	skin	malignant_melanoma	Substitution - Missense
c.1406C>T; p.P469L; 2:1484663-1484663	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2482C>A; p.P828T; 2:1504043-1504043	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2240G>A; p.S747N; 2:1496619-1496619	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1601G>A; p.G534D; 2:1487824-1487824	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2731G>T; p.A911S; 2:1540706-1540706	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.985G>A; p.V329M; 2:1477251-1477251	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1760G>A; p.G587E; 2:1487983-1487983	skin	malignant_melanoma	Substitution - Missense
c.578C>T; p.P193L; 2:1453789-1453789	skin	malignant_melanoma	Substitution - Missense
c.1110C>T; p.R370R; 2:1477376-1477376	liver	carcinoma	Substitution - coding silent
c.1110C>T; p.R370R; 2:1477376-1477376	liver	carcinoma	Substitution - coding silent
c.2587G>A; p.A863T; 2:1516951-1516951	breast	carcinoma	Substitution - Missense
c.2676C>T; p.P892P; 2:1540651-1540651	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2011T>C; p.W671R; 2:1495993-1495993	parathyroid	adenoma	Substitution - Missense
c.2532C>T; p.L844L; 2:1516896-1516896	skin	malignant_melanoma	Substitution - coding silent
c.2717C>T; p.P906L; 2:1540692-1540692	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1699C>T; p.L567L; 2:1487922-1487922	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1919C>A; p.A640D; 2:1493952-1493952	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2579G>A; p.G860E; 2:1516943-1516943	skin; trunk	malignant_melanoma	Substitution - Missense
c.1728G>A; p.A576A; 2:1487951-1487951	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.845C>T; p.A282V; 2:1477111-1477111	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.918G>A; p.G306G; 2:1477184-1477184	skin	malignant_melanoma	Substitution - coding silent
c.1728G>A; p.A576A; 2:1487951-1487951	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.918G>A; p.G306G; 2:1477184-1477184	skin	malignant_melanoma	Substitution - coding silent
c.9G>A; p.A3A; 2:1414417-1414417	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1819G>A; p.A607T; 2:1493852-1493852	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2133C>T; p.V711V; 2:1496115-1496115	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1819G>A; p.A607T; 2:1493852-1493852	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.483-1G>T; p.?; 2:1453693-1453693	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Unknown
c.2003A>T; p.D668V; 2:1494036-1494036	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1255G>A; p.A419T; 2:1477521-1477521	pancreas	carcinoma	Substitution - Missense
c.2762T>G; p.M921R; 2:1542434-1542434	liver	carcinoma	Substitution - Missense
c.8C>T; p.A3V; 2:1414416-1414416	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2718G>A; p.P906P; 2:1540693-1540693	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1752G>A; p.R584R; 2:1487975-1487975	skin	malignant_melanoma	Substitution - coding silent
c.2762T>G; p.M921R; 2:1542434-1542434	liver	carcinoma	Substitution - Missense
c.1649A>G; p.Q550R; 2:1487872-1487872	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1585T>G; p.L529V; 2:1484842-1484842	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2718G>A; p.P906P; 2:1540693-1540693	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.778C>A; p.Q260K; 2:1456241-1456241	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1927T>C; p.F643L; 2:1493960-1493960	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1927T>C; p.F643L; 2:1493960-1493960	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1884T>A; p.H628Q; 2:1493917-1493917	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1927T>C; p.F643L; 2:1493960-1493960	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1927T>C; p.F643L; 2:1493960-1493960	stomach	adenocarcinoma	Substitution - Missense
c.1704C>T; p.S568S; 2:1487927-1487927	skin	malignant_melanoma	Substitution - coding silent
c.90T>G; p.L30L; 2:1414498-1414498	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2143C>T; p.P715S; 2:1496125-1496125	skin	malignant_melanoma	Substitution - Missense
c.2218G>A; p.D740N; 2:1496597-1496597	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2143C>T; p.P715S; 2:1496125-1496125	skin	malignant_melanoma	Substitution - Missense
c.2143C>T; p.P715S; 2:1496125-1496125	skin	malignant_melanoma	Substitution - Missense
c.61C>T; p.P21S; 2:1414469-1414469	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.418C>T; p.P140S; 2:1436320-1436320	skin	malignant_melanoma	Substitution - Missense
c.2432C>G; p.S811C; 2:1503993-1503993	breast	carcinoma	Substitution - Missense
c.2285G>A; p.R762H; 2:1496664-1496664	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2285G>A; p.R762H; 2:1496664-1496664	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1918G>C; p.A640P; 2:1493951-1493951	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2427C>T; p.H809H; 2:1503988-1503988	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2427C>T; p.H809H; 2:1503988-1503988	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2427C>T; p.H809H; 2:1503988-1503988	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.698G>A; p.W233*; 2:1456161-1456161	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2427C>T; p.H809H; 2:1503988-1503988	pancreas	carcinoma	Substitution - coding silent
c.2406C>T; p.D802D; 2:1503967-1503967	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1549C>T; p.L517L; 2:1484806-1484806	skin	malignant_melanoma	Substitution - coding silent
c.177G>A; p.Q59Q; 2:1423127-1423127	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2654C>T; p.S885L; 2:1540629-1540629	skin	malignant_melanoma	Substitution - Missense
c.16G>C; p.V6L; 2:1414424-1414424	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.177G>A; p.Q59Q; 2:1423127-1423127	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.2654C>T; p.S885L; 2:1540629-1540629	skin	malignant_melanoma	Substitution - Missense
c.1320C>T; p.V440V; 2:1477586-1477586	skin	malignant_melanoma	Substitution - coding silent
c.81A>G; p.K27K; 2:1414489-1414489	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.523C>T; p.R175*; 2:1453734-1453734	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2177G>T; p.G726V; 2:1496159-1496159	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1376G>A; p.G459E; 2:1484633-1484633	skin	malignant_melanoma	Substitution - Missense
c.1354G>A; p.D452N; 2:1484611-1484611	skin	malignant_melanoma	Substitution - Missense
c.1354G>A; p.D452N; 2:1484611-1484611	skin	malignant_melanoma	Substitution - Missense
c.124G>A; p.V42I; 2:1423074-1423074	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1861A>G; p.K621E; 2:1493894-1493894	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1371C>T; p.I457I; 2:1484628-1484628	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.283G>A; p.E95K; 2:1433541-1433541	skin	malignant_melanoma	Substitution - Missense
c.124G>A; p.V42I; 2:1423074-1423074	pancreas	carcinoma	Substitution - Missense
c.283G>A; p.E95K; 2:1433541-1433541	kidney	other; neoplasm	Substitution - Missense
c.1545C>T; p.P515P; 2:1484802-1484802	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1371C>T; p.I457I; 2:1484628-1484628	skin	malignant_melanoma	Substitution - coding silent
c.189G>A; p.K63K; 2:1433447-1433447	skin	malignant_melanoma	Substitution - coding silent
c.189G>A; p.K63K; 2:1433447-1433447	skin	malignant_melanoma	Substitution - coding silent
c.2746C>A; p.Q916K; 2:1540721-1540721	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2604G>A; p.T868T; 2:1516968-1516968	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2536C>T; p.R846W; 2:1516900-1516900	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.594C>T; p.N198N; 2:1453805-1453805	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1277C>T; p.A426V; 2:1477543-1477543	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1464C>T; p.A488A; 2:1484721-1484721	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.541T>C; p.Y181H; 2:1453752-1453752	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1464C>T; p.A488A; 2:1484721-1484721	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2414delA; p.H805fs*27; 2:1503975-1503975	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.242A>T; p.E81V; 2:1433500-1433500	prostate	carcinoma	Substitution - Missense
c.1727C>A; p.A576E; 2:1487950-1487950	central_nervous_system; brain	glioma	Substitution - Missense
c.652G>A; p.E218K; 2:1456115-1456115	skin	malignant_melanoma	Substitution - Missense
c.772G>T; p.D258Y; 2:1456235-1456235	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1727C>A; p.A576E; 2:1487950-1487950	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1682C>T; p.T561M; 2:1487905-1487905	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.882C>T; p.A294A; 2:1477148-1477148	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.23C>T; p.S8F; 2:1414431-1414431	skin	malignant_melanoma	Substitution - Missense
c.1682C>T; p.T561M; 2:1487905-1487905	peritoneum; appendix	other; pseudomyxoma_peritonei	Substitution - Missense
c.13G>A; p.A5T; 2:1414421-1414421	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.449A>C; p.K150T; 2:1436351-1436351	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1764G>T; p.L588L; 2:1487987-1487987	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.92G>T; p.W31L; 2:1414500-1414500	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2371C>T; p.P791S; 2:1496750-1496750	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.912C>T; p.L304L; 2:1477178-1477178	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1358A>C; p.Y453S; 2:1484615-1484615	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.912C>T; p.L304L; 2:1477178-1477178	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent

COSMIC somatic mutation [Top]