lung cancer gene and literature database Home

Annotation category 5

Basic annotation
Ontology and pathways
Literature evidence
Curated literatures
Expression
Gene expression chart
Somatic mutation
COSMIC and TCGA mutations
Network
Gene interaction
ceRNA
Gene-related ceRNA

Gene information

Gene ID	2153
Symbol	F5
Synonymous	FVL\|PCCF\|RPRGL1\|THPH2
Full name	coagulation factor V (proaccelerin, labile factor)
Gene description	activated protein c cofactor\|coagulation factor V\|coagulation factor V jinjiang A2 domain\|factor V Leiden\|proaccelerin, labile factor
Cytoband	1q23
Gene type	protein-coding
Synonymous	MIM:612309; HGNC:HGNC:3542; HPRD:01964

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.4862G>C; p.R1621P; 1:169536615-169536615	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3949G>A; p.G1317S; 1:169541141-169541141	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3804T>C; p.S1268S; 1:169541286-169541286	thyroid	other; neoplasm	Substitution - coding silent
c.6513C>T; p.S2171S; 1:169515459-169515459	skin	malignant_melanoma	Substitution - coding silent
c.5192A>G; p.Y1731C; 1:169530802-169530802	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2083A>G; p.I695V; 1:169543007-169543007	liver	carcinoma	Substitution - Missense
c.6513C>T; p.S2171S; 1:169515459-169515459	skin	malignant_melanoma	Substitution - coding silent
c.3804T>C; p.S1268S; 1:169541286-169541286	kidney	other; neoplasm	Substitution - coding silent
c.943C>T; p.H315Y; 1:169556655-169556655	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1816G>T; p.D606Y; 1:169544455-169544455	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2323T>C; p.S775P; 1:169542767-169542767	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2323T>C; p.S775P; 1:169542767-169542767	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2218C>T; p.R740*; 1:169542872-169542872	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3975C>T; p.L1325L; 1:169541115-169541115	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1176G>C; p.K392N; 1:169552677-169552677	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.861C>T; p.T287T; 1:169556737-169556737	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2928G>C; p.Q976H; 1:169542162-169542162	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3875C>T; p.T1292I; 1:169541215-169541215	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1299C>T; p.I433I; 1:169550737-169550737	skin	malignant_melanoma	Substitution - coding silent
c.1299C>T; p.I433I; 1:169550737-169550737	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1343A>G; p.H448R; 1:169550693-169550693	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2816C>T; p.S939L; 1:169542274-169542274	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1416C>T; p.I472I; 1:169549996-169549996	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; essential_thrombocythaemia	Substitution - coding silent
c.1299C>T; p.I433I; 1:169550737-169550737	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1343A>G; p.H448R; 1:169550693-169550693	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5499A>T; p.I1833I; 1:169528015-169528015	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1299C>T; p.I433I; 1:169550737-169550737	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5214A>C; p.K1738N; 1:169529813-169529813	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3527C>T; p.S1176F; 1:169541563-169541563	skin	malignant_melanoma	Substitution - Missense
c.5048G>A; p.G1683E; 1:169530946-169530946	kidney	other; neoplasm	Substitution - Missense
c.437G>A; p.R146Q; 1:169560703-169560703	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2515C>A; p.P839T; 1:169542575-169542575	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.5931G>T; p.Q1977H; 1:169523314-169523314	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5954T>C; p.L1985P; 1:169523291-169523291	ovary	carcinoma	Substitution - Missense
c.2515C>A; p.P839T; 1:169542575-169542575	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3183A>C; p.E1061D; 1:169541907-169541907	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.921C>T; p.I307I; 1:169556677-169556677	skin	malignant_melanoma	Substitution - coding silent
c.1022G>A; p.R341H; 1:169555278-169555278	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2248G>C; p.E750Q; 1:169542842-169542842	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1022G>A; p.R341H; 1:169555278-169555278	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2248G>C; p.E750Q; 1:169542842-169542842	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1416C>G; p.I472M; 1:169549996-169549996	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2875A>C; p.I959L; 1:169542215-169542215	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.6439G>C; p.E2147Q; 1:169515533-169515533	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.44G>A; p.G15D; 1:169586343-169586343	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5625G>A; p.K1875K; 1:169525992-169525992	skin	malignant_melanoma	Substitution - coding silent
c.3913C>G; p.P1305A; 1:169541177-169541177	breast	carcinoma	Substitution - Missense
c.2369A>C; p.N790T; 1:169542721-169542721	skin; mucosal	malignant_melanoma	Substitution - Missense
c.2102C>T; p.S701F; 1:169542988-169542988	breast	carcinoma	Substitution - Missense
c.567C>T; p.P189P; 1:169560573-169560573	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1446T>G; p.T482T; 1:169549966-169549966	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.5069C>T; p.S1690F; 1:169530925-169530925	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4321G>T; p.D1441Y; 1:169540769-169540769	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4594C>T; p.Q1532*; 1:169540496-169540496	breast	carcinoma	Substitution - Nonsense
c.5367A>G; p.R1789R; 1:169529660-169529660	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3500C>A; p.P1167H; 1:169541590-169541590	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3857C>A; p.S1286Y; 1:169541233-169541233	kidney	other; neoplasm	Substitution - Missense
c.3857C>A; p.S1286Y; 1:169541233-169541233	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1069G>C; p.E357Q; 1:169555231-169555231	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3089G>A; p.R1030Q; 1:169542001-169542001	skin	malignant_melanoma	Substitution - Missense
c.3089G>A; p.R1030Q; 1:169542001-169542001	skin	malignant_melanoma	Substitution - Missense
c.166C>A; p.L56I; 1:169582515-169582515	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3787A>T; p.S1263C; 1:169541303-169541303	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3693T>C; p.I1231I; 1:169541397-169541397	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1614G>A; p.R538R; 1:169546590-169546590	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4555G>T; p.G1519C; 1:169540535-169540535	soft_tissue; blood_vessel	angiosarcoma	Substitution - Missense
c.3551delC; p.T1184fs*10; 1:169541539-169541539	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.166C>A; p.L56I; 1:169582515-169582515	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.166C>A; p.L56I; 1:169582515-169582515	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3089G>A; p.R1030Q; 1:169542001-169542001	skin	malignant_melanoma	Substitution - Missense
c.4168G>C; p.E1390Q; 1:169540922-169540922	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4168G>C; p.E1390Q; 1:169540922-169540922	breast	carcinoma	Substitution - Missense
c.1614G>A; p.R538R; 1:169546590-169546590	skin	malignant_melanoma	Substitution - coding silent
c.166C>A; p.L56I; 1:169582515-169582515	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1029G>T; p.Q343H; 1:169555271-169555271	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3226A>G; p.T1076A; 1:169541864-169541864	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2668G>T; p.V890F; 1:169542422-169542422	prostate	carcinoma	Substitution - Missense
c.6163C>T; p.R2055*; 1:169520550-169520550	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.6163C>T; p.R2055*; 1:169520550-169520550	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.5290A>G; p.M1764V; 1:169529737-169529737	thyroid	other; neoplasm	Substitution - Missense
c.1438A>C; p.T480P; 1:169549974-169549974	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.102C>A; p.F34L; 1:169586285-169586285	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.102C>A; p.F34L; 1:169586285-169586285	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.117G>C; p.Q39H; 1:169586270-169586270	skin	malignant_melanoma	Substitution - Missense
c.1940G>A; p.R647H; 1:169544331-169544331	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2573A>G; p.K858R; 1:169542517-169542517	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.935C>T; p.T312I; 1:169556663-169556663	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.5347T>C; p.Y1783H; 1:169529680-169529680	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2573A>G; p.K858R; 1:169542517-169542517	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3138G>A; p.R1046R; 1:169541952-169541952	skin	malignant_melanoma	Substitution - coding silent
c.4269C>T; p.N1423N; 1:169540821-169540821	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2573A>G; p.K858R; 1:169542517-169542517	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.6492G>A; p.W2164*; 1:169515480-169515480	skin	malignant_melanoma	Substitution - Nonsense
c.1363T>C; p.Y455H; 1:169550673-169550673	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6482G>A; p.G2161E; 1:169515490-169515490	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3564A>G; p.P1188P; 1:169541526-169541526	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2746G>T; p.G916C; 1:169542344-169542344	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3683A>T; p.Q1228L; 1:169541407-169541407	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4471C>T; p.P1491S; 1:169540619-169540619	prostate	carcinoma	Substitution - Missense
c.248C>T; p.S83L; 1:169582433-169582433	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4258C>A; p.L1420I; 1:169540832-169540832	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2886T>C; p.T962T; 1:169542204-169542204	breast	carcinoma	Substitution - coding silent
c.5020G>A; p.G1674R; 1:169530974-169530974	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1604G>A; p.G535E; 1:169549808-169549808	skin	malignant_melanoma	Substitution - Missense
c.6304C>T; p.R2102C; 1:169518453-169518453	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.6304C>T; p.R2102C; 1:169518453-169518453	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.6304C>T; p.R2102C; 1:169518453-169518453	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1646C>T; p.A549V; 1:169546558-169546558	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1694A>C; p.K565T; 1:169546510-169546510	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4839C>A; p.T1613T; 1:169536638-169536638	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.552G>T; p.S184S; 1:169560588-169560588	thyroid	other; neoplasm	Substitution - coding silent
c.1089T>C; p.Y363Y; 1:169555211-169555211	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.6299G>A; p.R2100H; 1:169518458-169518458	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.4294G>T; p.D1432Y; 1:169540796-169540796	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2473G>A; p.A825T; 1:169542617-169542617	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5363C>A; p.S1788Y; 1:169529664-169529664	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.551C>T; p.S184L; 1:169560589-169560589	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5668G>A; p.E1890K; 1:169525949-169525949	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3382C>T; p.Q1128*; 1:169541708-169541708	skin	malignant_melanoma	Substitution - Nonsense
c.4692T>C; p.P1564P; 1:169540398-169540398	breast	carcinoma	Substitution - coding silent
c.2186G>C; p.R729T; 1:169542904-169542904	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3059T>C; p.L1020P; 1:169542031-169542031	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2012G>T; p.R671I; 1:169543078-169543078	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.551C>T; p.S184L; 1:169560589-169560589	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1600C>T; p.Q534*; 1:169549812-169549812	central_nervous_system; brain	glioma	Substitution - Nonsense
c.3349C>T; p.L1117F; 1:169541741-169541741	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1600C>T; p.Q534*; 1:169549812-169549812	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.1600C>T; p.Q534*; 1:169549812-169549812	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.6651A>T; p.E2217D; 1:169514337-169514337	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1600C>T; p.Q534*; 1:169549812-169549812	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.6264G>T; p.K2088N; 1:169518493-169518493	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3749C>A; p.S1250Y; 1:169541341-169541341	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2487C>T; p.S829S; 1:169542603-169542603	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.4717C>T; p.R1573C; 1:169540373-169540373	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4069C>A; p.L1357I; 1:169541021-169541021	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3691A>C; p.I1231L; 1:169541399-169541399	thyroid	other; neoplasm	Substitution - Missense
c.6264G>T; p.K2088N; 1:169518493-169518493	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6264G>T; p.K2088N; 1:169518493-169518493	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4069C>A; p.L1357I; 1:169541021-169541021	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.6264G>T; p.K2088N; 1:169518493-169518493	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.693G>A; p.M231I; 1:169559190-169559190	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4717C>T; p.R1573C; 1:169540373-169540373	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2161G>C; p.D721H; 1:169542929-169542929	urinary_tract; bladder	carcinoma	Substitution - Missense
c.6643C>T; p.R2215C; 1:169514345-169514345	skin	malignant_melanoma	Substitution - Missense
c.2235T>C; p.N745N; 1:169542855-169542855	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2161G>C; p.D721H; 1:169542929-169542929	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.5643G>A; p.W1881*; 1:169525974-169525974	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3573C>A; p.S1191R; 1:169541517-169541517	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6643C>T; p.R2215C; 1:169514345-169514345	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3258G>T; p.L1086F; 1:169541832-169541832	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.6418G>A; p.G2140S; 1:169515554-169515554	skin	malignant_melanoma	Substitution - Missense
c.1439C>G; p.T480S; 1:169549973-169549973	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2059G>A; p.D687N; 1:169543031-169543031	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3968C>T; p.P1323L; 1:169541122-169541122	skin	malignant_melanoma	Substitution - Missense
c.4106A>G; p.D1369G; 1:169540984-169540984	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.84G>T; p.A28A; 1:169586303-169586303	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2593C>T; p.H865Y; 1:169542497-169542497	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.886G>A; p.A296T; 1:169556712-169556712	breast	carcinoma	Substitution - Missense
c.1168C>A; p.H390N; 1:169552685-169552685	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.933C>T; p.L311L; 1:169556665-169556665	skin	malignant_melanoma	Substitution - coding silent
c.6605G>A; p.R2202H; 1:169514383-169514383	large_intestine; colon	carcinoma	Substitution - Missense
c.672G>A; p.W224*; 1:169559211-169559211	skin	malignant_melanoma	Substitution - Nonsense
c.6605G>A; p.R2202H; 1:169514383-169514383	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5672A>G; p.N1891S; 1:169525945-169525945	NS	malignant_melanoma	Substitution - Missense
c.5362T>A; p.S1788T; 1:169529665-169529665	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.3627C>A; p.S1209R; 1:169541463-169541463	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1197C>T; p.Y399Y; 1:169552656-169552656	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2127G>A; p.M709I; 1:169542963-169542963	prostate	adenoma	Substitution - Missense
c.2509G>C; p.E837Q; 1:169542581-169542581	oesophagus	carcinoma	Substitution - Missense
c.440A>G; p.E147G; 1:169560700-169560700	central_nervous_system; brain	glioma	Substitution - Missense
c.2591A>C; p.K864T; 1:169542499-169542499	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3619G>T; p.D1207Y; 1:169541471-169541471	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4021C>G; p.P1341A; 1:169541069-169541069	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1187A>G; p.Y396C; 1:169552666-169552666	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4930C>A; p.L1644I; 1:169536547-169536547	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6289G>A; p.E2097K; 1:169518468-169518468	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2232G>A; p.L744L; 1:169542858-169542858	skin	malignant_melanoma	Substitution - coding silent
c.2007T>C; p.S669S; 1:169543083-169543083	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6289G>A; p.E2097K; 1:169518468-169518468	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.4930C>A; p.L1644I; 1:169536547-169536547	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6264G>A; p.K2088K; 1:169518493-169518493	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3326G>C; p.G1109A; 1:169541764-169541764	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.5558G>T; p.G1853V; 1:169527956-169527956	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1633C>G; p.Q545E; 1:169546571-169546571	pleura	pulmonary_blastoma	Substitution - Missense
c.2019A>T; p.K673N; 1:169543071-169543071	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5590delC; p.L1864fs*11; 1:169527924-169527924	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.952+1G>A; p.?; 1:169556645-169556645	large_intestine; rectum	carcinoma; adenocarcinoma	Unknown
c.4310C>T; p.T1437I; 1:169540780-169540780	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.416A>T; p.D139V; 1:169560724-169560724	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.6646C>A; p.L2216M; 1:169514342-169514342	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.655G>C; p.D219H; 1:169559228-169559228	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1615G>A; p.A539T; 1:169546589-169546589	skin	malignant_melanoma	Substitution - Missense
c.2923C>A; p.P975T; 1:169542167-169542167	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4241A>T; p.D1414V; 1:169540849-169540849	breast	carcinoma	Substitution - Missense
c.2292C>T; p.F764F; 1:169542798-169542798	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2292C>T; p.F764F; 1:169542798-169542798	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2292C>T; p.F764F; 1:169542798-169542798	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2292C>T; p.F764F; 1:169542798-169542798	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5409T>G; p.H1803Q; 1:169529618-169529618	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2842C>T; p.H948Y; 1:169542248-169542248	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5174G>T; p.C1725F; 1:169530820-169530820	skin	malignant_melanoma	Substitution - Missense
c.4298T>C; p.L1433P; 1:169540792-169540792	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1589C>A; p.S530Y; 1:169549823-169549823	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5845A>G; p.S1949G; 1:169523848-169523848	ovary	other; neoplasm	Substitution - Missense
c.4087C>A; p.H1363N; 1:169541003-169541003	breast	carcinoma	Substitution - Missense
c.1115A>G; p.D372G; 1:169555185-169555185	central_nervous_system; brain	glioma	Substitution - Missense
c.5345G>T; p.W1782L; 1:169529682-169529682	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.427G>T; p.A143S; 1:169560713-169560713	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.5065G>T; p.D1689Y; 1:169530929-169530929	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.5115T>A; p.S1705R; 1:169530879-169530879	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2649G>A; p.M883I; 1:169542441-169542441	skin; extremity	malignant_melanoma	Substitution - Missense
c.2649G>A; p.M883I; 1:169542441-169542441	skin	malignant_melanoma	Substitution - Missense
c.1896C>A; p.I632I; 1:169544375-169544375	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4370C>T; p.P1457L; 1:169540720-169540720	skin	malignant_melanoma	Substitution - Missense
c.3355C>T; p.Q1119*; 1:169541735-169541735	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.793G>T; p.E265*; 1:169556805-169556805	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4086C>A; p.S1362R; 1:169541004-169541004	breast	carcinoma	Substitution - Missense
c.6594C>T; p.S2198S; 1:169514394-169514394	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.2454A>G; p.S818S; 1:169542636-169542636	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.5882C>T; p.P1961L; 1:169523811-169523811	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.532C>A; p.L178M; 1:169560608-169560608	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1514A>T; p.Y505F; 1:169549898-169549898	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4503T>G; p.T1501T; 1:169540587-169540587	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.898G>T; p.V300L; 1:169556700-169556700	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3124C>T; p.P1042S; 1:169541966-169541966	skin	malignant_melanoma	Substitution - Missense
c.4975C>T; p.R1659C; 1:169531019-169531019	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2391C>G; p.A797A; 1:169542699-169542699	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2389G>A; p.A797T; 1:169542701-169542701	skin	malignant_melanoma	Substitution - Missense
c.4750A>C; p.I1584L; 1:169540340-169540340	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.4975C>T; p.R1659C; 1:169531019-169531019	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1461C>A; p.I487I; 1:169549951-169549951	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1545C>T; p.I515I; 1:169549867-169549867	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1567C>T; p.L523F; 1:169549845-169549845	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.733A>G; p.I245V; 1:169556865-169556865	liver	carcinoma	Substitution - Missense
c.733A>G; p.I245V; 1:169556865-169556865	liver	carcinoma	Substitution - Missense
c.4075C>T; p.P1359S; 1:169541015-169541015	skin	malignant_melanoma	Substitution - Missense
c.436C>A; p.R146R; 1:169560704-169560704	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1092A>C; p.A364A; 1:169555208-169555208	skin	malignant_melanoma	Substitution - coding silent
c.924A>G; p.I308M; 1:169556674-169556674	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.817G>A; p.G273S; 1:169556781-169556781	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.24C>T; p.L8L; 1:169586363-169586363	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1569T>C; p.L523L; 1:169549843-169549843	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3608A>C; p.N1203T; 1:169541482-169541482	thyroid	other; neoplasm	Substitution - Missense
c.2248_2250delGAG; p.E750delE; 1:169542840-169542842	ovary	carcinoma	Deletion - In frame
c.4480T>C; p.S1494P; 1:169540610-169540610	stomach	adenocarcinoma	Substitution - Missense
c.1208C>A; p.S403Y; 1:169552645-169552645	prostate	carcinoma	Substitution - Missense
c.2115T>C; p.A705A; 1:169542975-169542975	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.6588C>A; p.I2196I; 1:169514400-169514400	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4411C>G; p.Q1471E; 1:169540679-169540679	breast	carcinoma	Substitution - Missense
c.1232C>T; p.P411L; 1:169552621-169552621	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4000T>C; p.F1334L; 1:169541090-169541090	breast	carcinoma	Substitution - Missense
c.2958C>T; p.T986T; 1:169542132-169542132	skin	malignant_melanoma	Substitution - coding silent
c.1300G>A; p.V434M; 1:169550736-169550736	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4238C>A; p.P1413Q; 1:169540852-169540852	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3556A>G; p.I1186V; 1:169541534-169541534	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2108T>C; p.V703A; 1:169542982-169542982	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2958C>T; p.T986T; 1:169542132-169542132	skin	malignant_melanoma	Substitution - coding silent
c.538G>A; p.E180K; 1:169560602-169560602	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4351C>T; p.L1451F; 1:169540739-169540739	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4050A>T; p.P1350P; 1:169541040-169541040	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3308A>G; p.N1103S; 1:169541782-169541782	breast	carcinoma	Substitution - Missense
c.4140T>C; p.S1380S; 1:169540950-169540950	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1119-1G>C; p.?; 1:169552735-169552735	ovary	carcinoma; serous_carcinoma	Unknown
c.1021C>T; p.R341C; 1:169555279-169555279	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6428C>T; p.S2143F; 1:169515544-169515544	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.6360G>A; p.K2120K; 1:169515612-169515612	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3243C>T; p.D1081D; 1:169541847-169541847	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.872C>A; p.A291D; 1:169556726-169556726	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6360G>A; p.K2120K; 1:169515612-169515612	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.5125G>A; p.V1709I; 1:169530869-169530869	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3857C>T; p.S1286F; 1:169541233-169541233	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2612A>G; p.E871G; 1:169542478-169542478	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5112C>T; p.S1704S; 1:169530882-169530882	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2448G>T; p.K816N; 1:169542642-169542642	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4790T>A; p.V1597E; 1:169540300-169540300	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.330G>C; p.L110F; 1:169572264-169572264	breast	carcinoma	Substitution - Missense
c.2772G>A; p.W924*; 1:169542318-169542318	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1934C>T; p.P645L; 1:169544337-169544337	skin	malignant_melanoma	Substitution - Missense
c.537C>T; p.I179I; 1:169560603-169560603	liver	carcinoma	Substitution - coding silent
c.4091C>A; p.T1364K; 1:169540999-169540999	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3457C>G; p.L1153V; 1:169541633-169541633	breast	carcinoma	Substitution - Missense
c.5835T>G; p.Y1945*; 1:169523858-169523858	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.6025G>A; p.G2009R; 1:169523220-169523220	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5420-3C>T; p.?; 1:169528097-169528097	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.5230T>A; p.L1744M; 1:169529797-169529797	salivary_gland; parotid	carcinoma; adenoid_cystic_carcinoma	Substitution - Missense
c.2275G>A; p.E759K; 1:169542815-169542815	skin	malignant_melanoma	Substitution - Missense
c.4618G>A; p.E1540K; 1:169540472-169540472	skin	malignant_melanoma	Substitution - Missense
c.1457A>G; p.N486S; 1:169549955-169549955	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.4082C>T; p.P1361L; 1:169541008-169541008	breast	carcinoma	Substitution - Missense
c.4848G>T; p.K1616N; 1:169536629-169536629	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6070G>A; p.A2024T; 1:169520643-169520643	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.668G>C; p.S223T; 1:169559215-169559215	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3543C>A; p.V1181V; 1:169541547-169541547	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4917G>A; p.E1639E; 1:169536560-169536560	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4853T>C; p.V1618A; 1:169536624-169536624	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.598G>A; p.E200K; 1:169559285-169559285	skin	malignant_melanoma	Substitution - Missense
c.2476G>A; p.E826K; 1:169542614-169542614	breast	carcinoma	Substitution - Missense
c.3096G>C; p.K1032N; 1:169541994-169541994	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5478G>T; p.V1826V; 1:169528036-169528036	liver	carcinoma	Substitution - coding silent
c.417C>T; p.D139D; 1:169560723-169560723	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.417C>T; p.D139D; 1:169560723-169560723	pancreas	carcinoma	Substitution - coding silent
c.417C>T; p.D139D; 1:169560723-169560723	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.417C>T; p.D139D; 1:169560723-169560723	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6665A>G; p.D2222G; 1:169514323-169514323	thyroid	other; neoplasm	Substitution - Missense
c.5478G>T; p.V1826V; 1:169528036-169528036	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.562G>C; p.G188R; 1:169560578-169560578	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3235C>T; p.P1079S; 1:169541855-169541855	skin	malignant_melanoma	Substitution - Missense
c.747C>T; p.A249A; 1:169556851-169556851	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.6644G>C; p.R2215P; 1:169514344-169514344	breast	carcinoma	Substitution - Missense
c.801C>A; p.F267L; 1:169556797-169556797	bone; femur	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.3769A>G; p.N1257D; 1:169541321-169541321	liver	carcinoma	Substitution - Missense
c.3769A>G; p.N1257D; 1:169541321-169541321	liver	carcinoma	Substitution - Missense
c.3769A>G; p.N1257D; 1:169541321-169541321	liver	carcinoma	Substitution - Missense
c.4174C>T; p.P1392S; 1:169540916-169540916	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.446C>T; p.T149I; 1:169560694-169560694	skin	malignant_melanoma	Substitution - Missense
c.553G>A; p.G185R; 1:169560587-169560587	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4021C>T; p.P1341S; 1:169541069-169541069	skin	malignant_melanoma	Substitution - Missense
c.6396G>T; p.K2132N; 1:169515576-169515576	breast	carcinoma	Substitution - Missense
c.3712A>C; p.T1238P; 1:169541378-169541378	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3102A>C; p.K1034N; 1:169541988-169541988	skin	malignant_melanoma	Substitution - Missense
c.6112G>T; p.A2038S; 1:169520601-169520601	soft_tissue; blood_vessel	angiosarcoma	Substitution - Missense
c.1572A>T; p.L524L; 1:169549840-169549840	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2301A>G; p.S767S; 1:169542789-169542789	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2301A>G; p.S767S; 1:169542789-169542789	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2301A>G; p.S767S; 1:169542789-169542789	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.642A>G; p.L214L; 1:169559241-169559241	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1316C>T; p.A439V; 1:169550720-169550720	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2301A>G; p.S767S; 1:169542789-169542789	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.3926A>T; p.Q1309L; 1:169541164-169541164	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6645C>T; p.R2215R; 1:169514343-169514343	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3442T>A; p.S1148T; 1:169541648-169541648	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6593C>T; p.S2198F; 1:169514395-169514395	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.4369C>T; p.P1457S; 1:169540721-169540721	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4960G>A; p.D1654N; 1:169536517-169536517	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2775G>T; p.K925N; 1:169542315-169542315	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.4047C>A; p.S1349S; 1:169541043-169541043	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3382C>A; p.Q1128K; 1:169541708-169541708	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1237A>G; p.M413V; 1:169552616-169552616	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2775G>T; p.K925N; 1:169542315-169542315	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2369A>G; p.N790S; 1:169542721-169542721	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4189C>T; p.L1397F; 1:169540901-169540901	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.5722A>G; p.R1908G; 1:169524903-169524903	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.6074C>A; p.S2025Y; 1:169520639-169520639	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3853C>A; p.L1285I; 1:169541237-169541237	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3875C>A; p.T1292K; 1:169541215-169541215	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.2594A>G; p.H865R; 1:169542496-169542496	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2594A>G; p.H865R; 1:169542496-169542496	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.4661T>C; p.V1554A; 1:169540429-169540429	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3875C>A; p.T1292K; 1:169541215-169541215	breast	carcinoma	Substitution - Missense
c.731-2A>T; p.?; 1:169556869-169556869	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.4637A>G; p.Y1546C; 1:169540453-169540453	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2318T>C; p.V773A; 1:169542772-169542772	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2594A>G; p.H865R; 1:169542496-169542496	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.573T>G; p.L191L; 1:169560567-169560567	skin	malignant_melanoma	Substitution - coding silent
c.2594A>G; p.H865R; 1:169542496-169542496	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.5945A>C; p.K1982T; 1:169523300-169523300	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4957G>A; p.D1653N; 1:169536520-169536520	skin	malignant_melanoma	Substitution - Missense
c.6236A>G; p.N2079S; 1:169518521-169518521	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1035G>A; p.R345R; 1:169555265-169555265	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1500C>T; p.C500C; 1:169549912-169549912	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.5835T>A; p.Y1945*; 1:169523858-169523858	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3414G>A; p.M1138I; 1:169541676-169541676	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5536G>C; p.G1846R; 1:169527978-169527978	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.1567C>A; p.L523I; 1:169549845-169549845	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.349A>T; p.I117F; 1:169572245-169572245	skin	malignant_melanoma	Substitution - Missense
c.1447T>A; p.Y483N; 1:169549965-169549965	breast	carcinoma	Substitution - Missense
c.1106C>T; p.A369V; 1:169555194-169555194	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5054C>G; p.T1685S; 1:169530940-169530940	prostate	carcinoma	Substitution - Missense
c.120C>T; p.G40G; 1:169586267-169586267	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1044G>T; p.K348N; 1:169555256-169555256	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2707G>A; p.G903R; 1:169542383-169542383	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2707G>A; p.G903R; 1:169542383-169542383	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2488C>A; p.P830T; 1:169542602-169542602	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4284C>T; p.S1428S; 1:169540806-169540806	skin	malignant_melanoma	Substitution - coding silent
c.1358C>T; p.S453L; 1:169550678-169550678	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2768C>T; p.P923L; 1:169542322-169542322	skin	malignant_melanoma	Substitution - Missense
c.2768C>T; p.P923L; 1:169542322-169542322	skin	malignant_melanoma	Substitution - Missense
c.5467C>G; p.Q1823E; 1:169528047-169528047	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6039G>C; p.R2013S; 1:169523206-169523206	pancreas	carcinoma	Substitution - Missense
c.1763-1G>A; p.?; 1:169544509-169544509	breast	carcinoma	Unknown
c.3076C>A; p.L1026I; 1:169542014-169542014	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.256C>A; p.L86I; 1:169572338-169572338	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4763A>G; p.E1588G; 1:169540327-169540327	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2783C>T; p.P928L; 1:169542307-169542307	skin; trunk	malignant_melanoma; nodular	Substitution - Missense
c.3826C>A; p.L1276I; 1:169541264-169541264	thyroid	carcinoma; anaplastic_carcinoma	Substitution - Missense
c.3826C>A; p.L1276I; 1:169541264-169541264	pituitary; craniopharyngeal_duct	craniopharyngioma; adamantinomatous	Substitution - Missense
c.292A>G; p.I98V; 1:169572302-169572302	skin	malignant_melanoma	Substitution - Missense
c.3826C>A; p.L1276I; 1:169541264-169541264	breast	carcinoma	Substitution - Missense
c.6001C>A; p.Q2001K; 1:169523244-169523244	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1064C>A; p.A355D; 1:169555236-169555236	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1433G>A; p.G478E; 1:169549979-169549979	skin	malignant_melanoma	Substitution - Missense
c.3655C>A; p.Q1219K; 1:169541435-169541435	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4378C>G; p.L1460V; 1:169540712-169540712	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6257C>T; p.S2086L; 1:169518500-169518500	skin	malignant_melanoma	Substitution - Missense
c.5022A>G; p.G1674G; 1:169530972-169530972	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.162G>C; p.L54F; 1:169582519-169582519	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6257C>T; p.S2086L; 1:169518500-169518500	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5986G>T; p.A1996S; 1:169523259-169523259	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.359G>C; p.S120T; 1:169572235-169572235	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4971+7C>A; p.?; 1:169536499-169536499	pancreas	carcinoma	Unknown
c.4375G>T; p.D1459Y; 1:169540715-169540715	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.498A>G; p.P166P; 1:169560642-169560642	liver	carcinoma	Substitution - coding silent
c.4141C>A; p.Q1381K; 1:169540949-169540949	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1489G>A; p.D497N; 1:169549923-169549923	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3965C>T; p.S1322F; 1:169541125-169541125	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1018A>G; p.T340A; 1:169555282-169555282	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3948C>T; p.L1316L; 1:169541142-169541142	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.498A>G; p.P166P; 1:169560642-169560642	liver	carcinoma	Substitution - coding silent
c.5756C>A; p.S1919Y; 1:169524869-169524869	breast	carcinoma	Substitution - Missense
c.3948C>T; p.L1316L; 1:169541142-169541142	kidney	other; neoplasm	Substitution - coding silent
c.6319G>A; p.G2107R; 1:169518438-169518438	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5091T>A; p.D1697E; 1:169530903-169530903	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2617G>A; p.D873N; 1:169542473-169542473	skin	malignant_melanoma	Substitution - Missense
c.4166G>A; p.S1389N; 1:169540924-169540924	breast	carcinoma	Substitution - Missense
c.6434C>T; p.S2145F; 1:169515538-169515538	skin; extremity	malignant_melanoma	Substitution - Missense
c.2121G>A; p.R707R; 1:169542969-169542969	skin	malignant_melanoma	Substitution - coding silent
c.651G>A; p.V217V; 1:169559232-169559232	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3219C>T; p.S1073S; 1:169541871-169541871	skin	malignant_melanoma	Substitution - coding silent
c.2428C>T; p.L810L; 1:169542662-169542662	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6116G>C; p.R2039T; 1:169520597-169520597	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4739G>T; p.R1580I; 1:169540351-169540351	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2978G>A; p.G993E; 1:169542112-169542112	skin	malignant_melanoma	Substitution - Missense
c.4739G>T; p.R1580I; 1:169540351-169540351	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3821T>C; p.M1274T; 1:169541269-169541269	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.4347G>A; p.P1449P; 1:169540743-169540743	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.5844G>A; p.W1948*; 1:169523849-169523849	skin	malignant_melanoma	Substitution - Nonsense
c.1943G>A; p.G648E; 1:169544328-169544328	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3837C>T; p.D1279D; 1:169541253-169541253	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4665G>A; p.R1555R; 1:169540425-169540425	skin	malignant_melanoma	Substitution - coding silent
c.4937C>T; p.P1646L; 1:169536540-169536540	skin	malignant_melanoma	Substitution - Missense
c.2248G>T; p.E750*; 1:169542842-169542842	skin	malignant_melanoma	Substitution - Nonsense
c.5232G>A; p.L1744L; 1:169529795-169529795	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.3679G>A; p.G1227S; 1:169541411-169541411	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4022C>T; p.P1341L; 1:169541068-169541068	skin	malignant_melanoma	Substitution - Missense
c.2208C>T; p.I736I; 1:169542882-169542882	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1380_1382delCTC; p.S462delS; 1:169550654-169550656	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - In frame
c.2208C>T; p.I736I; 1:169542882-169542882	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2771G>T; p.W924L; 1:169542319-169542319	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1016T>G; p.I339R; 1:169555284-169555284	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6280G>C; p.D2094H; 1:169518477-169518477	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5701C>A; p.L1901I; 1:169525916-169525916	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.47C>T; p.T16I; 1:169586340-169586340	skin	malignant_melanoma	Substitution - Missense
c.1033C>T; p.R345W; 1:169555267-169555267	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1033C>T; p.R345W; 1:169555267-169555267	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2816C>A; p.S939*; 1:169542274-169542274	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.6072C>T; p.A2024A; 1:169520641-169520641	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3927G>A; p.Q1309Q; 1:169541163-169541163	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4949C>A; p.A1650D; 1:169536528-169536528	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6401C>T; p.T2134M; 1:169515571-169515571	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2096C>A; p.P699Q; 1:169542994-169542994	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6401C>T; p.T2134M; 1:169515571-169515571	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4013A>G; p.N1338S; 1:169541077-169541077	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4095C>T; p.T1365T; 1:169540995-169540995	thyroid	other; neoplasm	Substitution - coding silent
c.4042C>A; p.L1348I; 1:169541048-169541048	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5176C>T; p.R1726W; 1:169530818-169530818	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.497C>T; p.P166L; 1:169560643-169560643	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2500G>C; p.D834H; 1:169542590-169542590	urinary_tract; bladder	carcinoma	Substitution - Missense
c.612G>A; p.Q204Q; 1:169559271-169559271	skin	malignant_melanoma	Substitution - coding silent
c.5176C>T; p.R1726W; 1:169530818-169530818	skin	malignant_melanoma	Substitution - Missense
c.2500G>C; p.D834H; 1:169542590-169542590	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.6344A>G; p.K2115R; 1:169518413-169518413	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.746C>T; p.A249V; 1:169556852-169556852	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.372A>C; p.E124D; 1:169572222-169572222	breast	carcinoma	Substitution - Missense
c.4135C>T; p.L1379F; 1:169540955-169540955	skin	malignant_melanoma	Substitution - Missense
c.1238T>C; p.M413T; 1:169552615-169552615	thyroid	other; neoplasm	Substitution - Missense
c.851C>G; p.S284*; 1:169556747-169556747	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4385A>G; p.Q1462R; 1:169540705-169540705	skin; mucosal	malignant_melanoma	Substitution - Missense
c.4378C>A; p.L1460I; 1:169540712-169540712	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4873G>A; p.D1625N; 1:169536604-169536604	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1717G>T; p.V573L; 1:169546487-169546487	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3747T>C; p.L1249L; 1:169541343-169541343	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.4378C>A; p.L1460I; 1:169540712-169540712	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5276A>G; p.D1759G; 1:169529751-169529751	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3088C>T; p.R1030*; 1:169542002-169542002	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2068G>A; p.E690K; 1:169543022-169543022	skin	malignant_melanoma	Substitution - Missense
c.4108C>T; p.L1370F; 1:169540982-169540982	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2571C>T; p.F857F; 1:169542519-169542519	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1568T>C; p.L523P; 1:169549844-169549844	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1568T>C; p.L523P; 1:169549844-169549844	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4108C>T; p.L1370F; 1:169540982-169540982	breast	carcinoma	Substitution - Missense
c.4511C>G; p.S1504*; 1:169540579-169540579	oesophagus	carcinoma	Substitution - Nonsense
c.4901G>T; p.R1634L; 1:169536576-169536576	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4035A>G; p.Q1345Q; 1:169541055-169541055	breast	carcinoma	Substitution - coding silent
c.6515C>A; p.S2172Y; 1:169515457-169515457	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - Missense
c.4154C>T; p.S1385F; 1:169540936-169540936	skin	malignant_melanoma	Substitution - Missense
c.2390C>T; p.A797V; 1:169542700-169542700	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5014G>A; p.A1672T; 1:169530980-169530980	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4914A>G; p.E1638E; 1:169536563-169536563	skin	malignant_melanoma	Substitution - coding silent
c.2911T>C; p.W971R; 1:169542179-169542179	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5626G>T; p.A1876S; 1:169525991-169525991	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5847T>G; p.S1949R; 1:169523846-169523846	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.4210C>T; p.P1404S; 1:169540880-169540880	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2536G>A; p.G846R; 1:169542554-169542554	skin	malignant_melanoma	Substitution - Missense
c.1736A>C; p.K579T; 1:169546468-169546468	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3765G>C; p.Q1255H; 1:169541325-169541325	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2945G>A; p.W982*; 1:169542145-169542145	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4861C>G; p.R1621G; 1:169536616-169536616	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1250G>T; p.G417V; 1:169552603-169552603	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3765G>C; p.Q1255H; 1:169541325-169541325	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.964G>T; p.A322S; 1:169555336-169555336	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.324G>T; p.K108N; 1:169572270-169572270	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.825C>A; p.V275V; 1:169556773-169556773	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3549G>A; p.Q1183Q; 1:169541541-169541541	skin	malignant_melanoma	Substitution - coding silent
c.6634A>T; p.I2212F; 1:169514354-169514354	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.439G>A; p.E147K; 1:169560701-169560701	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2750C>T; p.S917F; 1:169542340-169542340	skin	malignant_melanoma	Substitution - Missense
c.439G>A; p.E147K; 1:169560701-169560701	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2542C>T; p.R848C; 1:169542548-169542548	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4611C>A; p.D1537E; 1:169540479-169540479	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.991A>G; p.K331E; 1:169555309-169555309	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2542C>T; p.R848C; 1:169542548-169542548	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6228G>C; p.K2076N; 1:169518529-169518529	urinary_tract; bladder	carcinoma	Substitution - Missense
c.6453G>A; p.K2151K; 1:169515519-169515519	liver	carcinoma	Substitution - coding silent
c.5279G>C; p.S1760T; 1:169529748-169529748	breast	carcinoma	Substitution - Missense
c.3651C>T; p.L1217L; 1:169541439-169541439	skin	malignant_melanoma	Substitution - coding silent
c.2877C>A; p.I959I; 1:169542213-169542213	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2478G>C; p.E826D; 1:169542612-169542612	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2465C>A; p.S822Y; 1:169542625-169542625	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.6332C>T; p.A2111V; 1:169518425-169518425	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3073T>C; p.F1025L; 1:169542017-169542017	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1128G>A; p.R376R; 1:169552725-169552725	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.636G>A; p.V212V; 1:169559247-169559247	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1939C>T; p.R647C; 1:169544332-169544332	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1939C>T; p.R647C; 1:169544332-169544332	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1939C>T; p.R647C; 1:169544332-169544332	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1939C>T; p.R647C; 1:169544332-169544332	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2716C>T; p.P906S; 1:169542374-169542374	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5047G>A; p.G1683R; 1:169530947-169530947	skin	malignant_melanoma	Substitution - Missense
c.5609A>G; p.K1870R; 1:169526008-169526008	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.237A>G; p.Q79Q; 1:169582444-169582444	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2779C>T; p.P927S; 1:169542311-169542311	skin	malignant_melanoma	Substitution - Missense
c.6446A>G; p.Y2149C; 1:169515526-169515526	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.6446A>G; p.Y2149C; 1:169515526-169515526	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2779C>T; p.P927S; 1:169542311-169542311	breast	carcinoma	Substitution - Missense
c.3940C>A; p.P1314T; 1:169541150-169541150	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5921C>G; p.T1974R; 1:169523324-169523324	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3482G>A; p.R1161Q; 1:169541608-169541608	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.466G>A; p.E156K; 1:169560674-169560674	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1219C>A; p.H407N; 1:169552634-169552634	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1976-2A>C; p.?; 1:169543116-169543116	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1824C>T; p.V608V; 1:169544447-169544447	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1655A>T; p.D552V; 1:169546549-169546549	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.343C>T; p.Q115*; 1:169572251-169572251	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.343C>T; p.Q115*; 1:169572251-169572251	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.1976-2A>C; p.?; 1:169543116-169543116	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.3980A>G; p.H1327R; 1:169541110-169541110	thyroid	other; neoplasm	Substitution - Missense
c.2455G>C; p.V819L; 1:169542635-169542635	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.506C>T; p.T169I; 1:169560634-169560634	breast	carcinoma	Substitution - Missense
c.3422C>A; p.T1141N; 1:169541668-169541668	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3891A>G; p.E1297E; 1:169541199-169541199	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1242A>G; p.K414K; 1:169552611-169552611	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2740G>T; p.D914Y; 1:169542350-169542350	skin	malignant_melanoma	Substitution - Missense
c.4429G>T; p.E1477*; 1:169540661-169540661	oesophagus	carcinoma	Substitution - Nonsense
c.3134C>T; p.P1045L; 1:169541956-169541956	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6641T>C; p.L2214P; 1:169514347-169514347	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1908G>A; p.R636R; 1:169544363-169544363	skin	malignant_melanoma	Substitution - coding silent
c.3212A>T; p.H1071L; 1:169541878-169541878	oesophagus	carcinoma	Substitution - Missense
c.260G>C; p.G87A; 1:169572334-169572334	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2135G>A; p.R712H; 1:169542955-169542955	central_nervous_system; brain	glioma	Substitution - Missense
c.5942C>T; p.A1981V; 1:169523303-169523303	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1127G>A; p.R376K; 1:169552726-169552726	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3865T>C; p.F1289L; 1:169541225-169541225	pituitary; craniopharyngeal_duct	craniopharyngioma; adamantinomatous	Substitution - Missense
c.1939C>A; p.R647S; 1:169544332-169544332	liver	carcinoma	Substitution - Missense
c.3865T>C; p.F1289L; 1:169541225-169541225	skin	malignant_melanoma	Substitution - Missense
c.3912_3913delTC; p.P1305fs*85; 1:169541177-169541178	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.3865T>C; p.F1289L; 1:169541225-169541225	breast	carcinoma	Substitution - Missense
c.226G>A; p.E76K; 1:169582455-169582455	skin; mucosal	malignant_melanoma	Substitution - Missense
c.4860_4861insTT; p.R1621fs*44; 1:169536616-169536617	bone; tibia	chondrosarcoma	Insertion - Frameshift
c.3630C>T; p.H1210H; 1:169541460-169541460	thyroid	other; neoplasm	Substitution - coding silent
c.6258G>T; p.S2086S; 1:169518499-169518499	breast	carcinoma	Substitution - coding silent
c.960G>T; p.M320I; 1:169555340-169555340	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.4344C>T; p.L1448L; 1:169540746-169540746	skin	malignant_melanoma	Substitution - coding silent
c.587G>A; p.G196E; 1:169559296-169559296	skin; arm	malignant_melanoma	Substitution - Missense
c.2882A>C; p.D961A; 1:169542208-169542208	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.452A>T; p.E151V; 1:169560688-169560688	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1926C>A; p.T642T; 1:169544345-169544345	thyroid	other; neoplasm	Substitution - coding silent
c.6460A>C; p.T2154P; 1:169515512-169515512	thyroid	other; neoplasm	Substitution - Missense
c.6586A>T; p.I2196F; 1:169514402-169514402	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.5889C>A; p.I1963I; 1:169523804-169523804	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2575A>G; p.S859G; 1:169542515-169542515	liver	carcinoma	Substitution - Missense
c.2486G>T; p.S829I; 1:169542604-169542604	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.2323T>G; p.S775A; 1:169542767-169542767	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1589C>T; p.S530F; 1:169549823-169549823	skin; trunk	malignant_melanoma	Substitution - Missense
c.3886C>G; p.P1296A; 1:169541204-169541204	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4058G>A; p.G1353D; 1:169541032-169541032	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5416C>A; p.H1806N; 1:169529611-169529611	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5259_5260insA; p.G1754fs*5; 1:169529767-169529768	liver	carcinoma	Insertion - Frameshift
c.3200C>T; p.S1067L; 1:169541890-169541890	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3200C>T; p.S1067L; 1:169541890-169541890	skin	malignant_melanoma	Substitution - Missense
c.4262C>T; p.S1421F; 1:169540828-169540828	skin	malignant_melanoma	Substitution - Missense
c.2527G>T; p.D843Y; 1:169542563-169542563	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3200C>T; p.S1067L; 1:169541890-169541890	breast	carcinoma	Substitution - Missense
c.2985G>T; p.Q995H; 1:169542105-169542105	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1305C>A; p.F435L; 1:169550731-169550731	skin	malignant_melanoma	Substitution - Missense
c.3200C>T; p.S1067L; 1:169541890-169541890	skin	malignant_melanoma	Substitution - Missense
c.5795G>T; p.W1932L; 1:169523898-169523898	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.765G>A; p.W255*; 1:169556833-169556833	ovary	other; neoplasm	Substitution - Nonsense
c.2773A>G; p.K925E; 1:169542317-169542317	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3851C>T; p.T1284I; 1:169541239-169541239	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.2773A>G; p.K925E; 1:169542317-169542317	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.6439G>A; p.E2147K; 1:169515533-169515533	breast	carcinoma	Substitution - Missense
c.2378A>C; p.E793A; 1:169542712-169542712	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3705C>G; p.L1235L; 1:169541385-169541385	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2410A>T; p.T804S; 1:169542680-169542680	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.5931G>A; p.Q1977Q; 1:169523314-169523314	pancreas	carcinoma	Substitution - coding silent
c.5717-2A>G; p.?; 1:169524910-169524910	urinary_tract; bladder	carcinoma	Unknown
c.1657G>A; p.E553K; 1:169546547-169546547	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3705C>G; p.L1235L; 1:169541385-169541385	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.6439G>A; p.E2147K; 1:169515533-169515533	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5195C>A; p.S1732*; 1:169530799-169530799	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.3913_3914insTC; p.P1305fs*29; 1:169541176-169541177	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation