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	8314
Symbol	BAP1
Synonymous	HUCEP-13\|UCHL2\|hucep-6
Full name	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
Gene description	cerebral protein 6\|cerebral protein-13\|ubiquitin carboxyl-terminal hydrolase BAP1
Cytoband	3p21.1
Gene type	protein-coding
Synonymous	MIM:603089; HGNC:HGNC:950; Ensembl:ENSG00000163930; HPRD:04366; Vega:OTTHUMG00000158392

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.438-2A>G; p.?; 3:52407318-52407318	eye; uveal_tract	malignant_melanoma	Unknown
c.438-2A>G; p.?; 3:52407318-52407318	eye; uveal_tract	malignant_melanoma	Unknown
c.438-2A>G; p.?; 3:52407318-52407318	eye; uveal_tract	malignant_melanoma	Unknown
c.207G>A; p.T69T; 3:52408522-52408522	pancreas	carcinoma	Substitution - coding silent
c.757C>A; p.Q253K; 3:52406279-52406279	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.456_457CC>TT; p.P153S; 3:52407297-52407298	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.358A>T; p.K120*; 3:52407975-52407975	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.38-25_47del35; p.?; 3:52409734-52409768	eye; uveal_tract	malignant_melanoma; epithelioid	Unknown
c.1946G>A; p.C649Y; 3:52402816-52402816	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2057G>A; p.G686D; 3:52402421-52402421	pleura	mesothelioma	Substitution - Missense
c.2057-2delA; p.?; 3:52402423-52402423	skin; ear	benign_melanocytic_nevus; melanocytic_tumour	Unknown
c.1928T>C; p.I643T; 3:52402834-52402834	skin	malignant_melanoma	Substitution - Missense
c.1220delA; p.D407fs*23; 3:52404483-52404483	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.580+2T>G; p.?; 3:52407172-52407172	eye; uveal_tract	malignant_melanoma	Unknown
c.256-2A>C; p.?; 3:52408079-52408079	eye; uveal_tract	malignant_melanoma; mixed	Unknown
c.788_789insT; p.R264fs*20; 3:52405907-52405908	liver	carcinoma	Insertion - Frameshift
c.505C>T; p.H169Y; 3:52407249-52407249	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1175_1182delAGCAGTAC; p.Q392fs*3; 3:52404521-52404528	eye; uveal_tract	malignant_melanoma	Deletion - Frameshift
c.505C>T; p.H169Y; 3:52407249-52407249	urinary_tract; bladder	carcinoma	Substitution - Missense
c.222delT; p.D74fs*4; 3:52408507-52408507	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.449_467del19; p.H151fs*30; 3:52407287-52407305	pleura	mesothelioma; epithelial	Deletion - Frameshift
c.1762C>A; p.P588T; 3:52403266-52403266	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.122+1G>T; p.?; 3:52409553-52409553	eye; uveal_tract	malignant_melanoma	Unknown
c.717C>T; p.I239I; 3:52406319-52406319	thyroid	other; neoplasm	Substitution - coding silent
c.430delC; p.H144fs*43; 3:52407406-52407406	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.239_239delT; p.M80fs*7; 3:52408490-52408490	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.932-1G>T; p.?; 3:52405295-52405295	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.1078T>C; p.F360L; 3:52405148-52405148	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.254A>G; p.Q85R; 3:52408475-52408475	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1730-1G>T; p.?; 3:52403299-52403299	breast	carcinoma	Unknown
c.219_219delT; p.D73fs*5; 3:52408510-52408510	eye; uveal_tract	malignant_melanoma	Deletion - Frameshift
c.1622T>G; p.V541G; 3:52403523-52403523	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.631A>G; p.M211V; 3:52406857-52406857	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.37+1_37+7delGTGAGGA; p.?; 3:52409835-52409841	eye; uveal_tract	malignant_melanoma	Unknown
c.179G>A; p.R60Q; 3:52408550-52408550	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1729G>C; p.E577Q; 3:52403416-52403416	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.214_238del25; p.I72fs*7; 3:52408491-52408515	pleura	mesothelioma; epithelial	Deletion - Frameshift
c.278_281delCTCA; p.T93fs*4; 3:52408052-52408055	skin; upper_back	malignant_melanoma	Deletion - Frameshift
c.1972A>T; p.K658*; 3:52402790-52402790	pleura	mesothelioma; biphasic	Substitution - Nonsense
c.271T>C; p.C91R; 3:52408062-52408062	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.271T>G; p.C91G; 3:52408062-52408062	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.587G>A; p.W196*; 3:52406901-52406901	eye; uveal_tract	malignant_melanoma	Substitution - Nonsense
c.587G>A; p.W196*; 3:52406901-52406901	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.587G>A; p.W196*; 3:52406901-52406901	eye; uveal_tract	malignant_melanoma	Substitution - Nonsense
c.97T>G; p.Y33D; 3:52409579-52409579	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1484C>T; p.T495M; 3:52403661-52403661	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.168_179del12; p.R57_R60delRSRR; 3:52408550-52408561	skin	malignant_melanoma	Deletion - In frame
c.497_509del13; p.E166fs*17; 3:52407245-52407257	eye; uveal_tract	malignant_melanoma	Deletion - Frameshift
c.1246C>T; p.L416F; 3:52404457-52404457	skin	malignant_melanoma	Substitution - Missense
c.2047_2056+19del29; p.?; 3:52402583-52402611	pleura	mesothelioma; biphasic	Unknown
c.971delC; p.P324fs*11; 3:52405255-52405255	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.1825A>G; p.S609G; 3:52403203-52403203	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.1891_1902del12; p.E631_A634del; 3:52402860-52402871	eye; uveal_tract	malignant_melanoma; epithelioid	Deletion - In frame
c.1876A>T; p.K626*; 3:52403152-52403152	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1696G>A; p.E566K; 3:52403449-52403449	breast	carcinoma	Substitution - Missense
c.1985T>A; p.I662N; 3:52402673-52402673	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1357A>G; p.K453E; 3:52403788-52403788	central_nervous_system; temporal_lobe	glioma; astrocytoma_Grade_II	Substitution - Missense
c.145C>G; p.L49V; 3:52408584-52408584	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.34C>A; p.P12T; 3:52409845-52409845	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.145C>G; p.L49V; 3:52408584-52408584	breast	carcinoma	Substitution - Missense
c.1357A>G; p.K453E; 3:52403788-52403788	central_nervous_system; temporal_lobe	glioma; astrocytoma_Grade_II	Substitution - Missense
c.1968G>C; p.K656N; 3:52402794-52402794	urinary_tract; bladder	carcinoma	Substitution - Missense
c.139A>T; p.I47F; 3:52408590-52408590	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.129A>G; p.V43V; 3:52408600-52408600	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.93G>T; p.E31D; 3:52409583-52409583	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.719_723delAGTAT; p.K240fs*42; 3:52406313-52406317	pleura	mesothelioma	Deletion - Frameshift
c.2110_2111insG; p.V704fs*13; 3:52402367-52402368	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Insertion - Frameshift
c.1809C>T; p.V603V; 3:52403219-52403219	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2050C>T; p.Q684*; 3:52402608-52402608	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.576C>T; p.D192D; 3:52407178-52407178	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1809C>T; p.V603V; 3:52403219-52403219	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2050C>T; p.Q684*; 3:52402608-52402608	pleura	mesothelioma; epithelial	Substitution - Nonsense
c.1153C>T; p.R385*; 3:52404550-52404550	eye; uveal_tract	malignant_melanoma	Substitution - Nonsense
c.1153C>T; p.R385*; 3:52404550-52404550	eye; uveal_tract	malignant_melanoma	Substitution - Nonsense
c.1885C>T; p.P629S; 3:52403143-52403143	skin	malignant_melanoma	Substitution - Missense
c.1153C>T; p.R385*; 3:52404550-52404550	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1153C>T; p.R385*; 3:52404550-52404550	eye; uveal_tract	malignant_melanoma; spindle	Substitution - Nonsense
c.1153C>T; p.R385*; 3:52404550-52404550	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.99C>A; p.Y33*; 3:52409577-52409577	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.862_920del59; p.A288fs*90; 3:52405776-52405834	eye; uveal_tract	malignant_melanoma	Deletion - Frameshift
c.723T>A; p.Y241*; 3:52406313-52406313	eye; uveal_tract	malignant_melanoma	Substitution - Nonsense
c.862_920del59; p.A288fs*90; 3:52405776-52405834	eye; uveal_tract	malignant_melanoma	Deletion - Frameshift
c.1338C>T; p.N446N; 3:52403807-52403807	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.141C>G; p.I47M; 3:52408588-52408588	urinary_tract; bladder	carcinoma	Substitution - Missense
c.233A>G; p.N78S; 3:52408496-52408496	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1046_1046delA; p.N349fs*13; 3:52405180-52405180	eye; uveal_tract	malignant_melanoma	Deletion - Frameshift
c.6_7insT; p.K3fs*1; 3:52409872-52409873	eye; uveal_tract	malignant_melanoma	Insertion - Frameshift
c.814C>T; p.Q272*; 3:52405882-52405882	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.233A>G; p.N78S; 3:52408496-52408496	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.784-1G>A; p.?; 3:52405913-52405913	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Unknown
c.29G>C; p.S10T; 3:52409850-52409850	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.123-2A>T; p.?; 3:52408608-52408608	eye; uveal_tract	malignant_melanoma	Unknown
c.588G>A; p.W196*; 3:52406900-52406900	eye; uveal_tract	malignant_melanoma; epithelioid	Substitution - Nonsense
c.2051delA; p.Q684fs*8; 3:52402607-52402607	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.438-24_438-2del; p.?; 3:52407318-52407340	pleura	mesothelioma	Unknown
c.368G>C; p.S123T; 3:52407965-52407965	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2097delG; p.R700fs*>30; 3:52402381-52402381	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.13T>A; p.W5R; 3:52409866-52409866	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1182C>T; p.Y394Y; 3:52404521-52404521	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1534C>T; p.R512C; 3:52403611-52403611	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.419C>T; p.A140V; 3:52407417-52407417	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.170_170delG; p.S58fs*14; 3:52408559-52408559	pleura	mesothelioma	Deletion - Frameshift
c.186C>T; p.V62V; 3:52408543-52408543	skin	malignant_melanoma	Substitution - coding silent
c.489G>A; p.R163R; 3:52407265-52407265	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - coding silent
c.1251-7C>A; p.?; 3:52403901-52403901	liver	carcinoma	Unknown
c.1251-7C>A; p.?; 3:52403901-52403901	liver	carcinoma	Unknown
c.92A>T; p.E31V; 3:52409584-52409584	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.968_978del11; p.A323fs*71; 3:52405248-52405258	eye; uveal_tract	malignant_melanoma; epithelioid	Deletion - Frameshift
c.489G>A; p.R163R; 3:52407265-52407265	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - coding silent
c.2073delA; p.V692fs*>38; 3:52402405-52402405	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.437+1G>T; p.?; 3:52407398-52407398	pleura	mesothelioma	Unknown
c.284C>A; p.A95D; 3:52408049-52408049	pleura	mesothelioma	Substitution - Missense
c.1730-?_1890+?del; p.?; 3:52403138-52403298	pleura	mesothelioma	Unknown
c.1918_1919insGG; p.E640fs*16; 3:52402843-52402844	eye; uveal_tract	malignant_melanoma	Insertion - Frameshift
c.284C>A; p.A95D; 3:52408049-52408049	pleura	mesothelioma; epithelial	Substitution - Missense
c.284C>A; p.A95D; 3:52408049-52408049	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.932-7G>T; p.?; 3:52405301-52405301	oesophagus	carcinoma; adenocarcinoma	Unknown
c.518A>C; p.Y173S; 3:52407236-52407236	pleura	mesothelioma; biphasic	Substitution - Missense
c.29G>A; p.S10N; 3:52409850-52409850	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.29G>A; p.S10N; 3:52409850-52409850	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1411_1412insC; p.G472fs*20; 3:52403733-52403734	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Insertion - Frameshift
c.1411_1412insC; p.G472fs*20; 3:52403733-52403734	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Insertion - Frameshift
c.634_634delG; p.E212fs*19; 3:52406854-52406854	eye; uveal_tract	malignant_melanoma	Deletion - Frameshift
c.1411_1412insC; p.G472fs*20; 3:52403733-52403734	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Insertion - Frameshift
c.29G>A; p.S10N; 3:52409850-52409850	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.438-1G>A; p.?; 3:52407317-52407317	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.1965_1966delGA; p.K656fs*7; 3:52402796-52402797	pleura	mesothelioma	Deletion - Frameshift
c.354C>T; p.F118F; 3:52407979-52407979	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.277A>G; p.T93A; 3:52408056-52408056	breast	carcinoma	Substitution - Missense
c.495_519del25; p.E166fs*13; 3:52407235-52407259	eye; uveal_tract	malignant_melanoma; spindle	Deletion - Frameshift
c.2072delT; p.L691fs*>39; 3:52402406-52402406	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.807_808insAG; p.L270fs*2; 3:52405888-52405889	liver	carcinoma	Insertion - Frameshift
c.969C>T; p.A323A; 3:52405257-52405257	skin	malignant_melanoma	Substitution - coding silent
c.1168C>A; p.P390T; 3:52404535-52404535	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.608_609delCA; p.T203fs*39; 3:52406879-52406880	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.152A>T; p.K51I; 3:52408577-52408577	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1441_1442insA; p.H481fs*11; 3:52403703-52403704	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Insertion - Frameshift
c.428G>A; p.S143N; 3:52407408-52407408	skin	malignant_melanoma	Substitution - Missense
c.506A>C; p.H169P; 3:52407248-52407248	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.621_636del16; p.R208fs*18; 3:52406852-52406867	eye; uveal_tract	malignant_melanoma; epithelioid	Deletion - Frameshift
c.67+1G>C; p.?; 3:52409713-52409713	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.1392_1392delC; p.I465fs*106; 3:52403753-52403753	skin; shoulder	benign_melanocytic_nevus; melanocytic_tumour	Deletion - Frameshift
c.1256delA; p.K419fs*11; 3:52403889-52403889	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.2080_2105del26; p.Q694fs*14; 3:52402373-52402398	eye; uveal_tract	malignant_melanoma; epithelioid	Deletion - Frameshift
c.348_350delGGA; p.K116_D117>N; 3:52407983-52407985	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Complex - deletion inframe
c.2055A>G; p.E685E; 3:52402603-52402603	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.689T>A; p.L230Q; 3:52406347-52406347	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1357A>T; p.K453*; 3:52403788-52403788	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.645_645delC; p.L216fs*15; 3:52406843-52406843	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.920_921insG; p.N308fs*90; 3:52405775-52405776	skin; back	other; atypical_Spitzoid_tumour	Insertion - Frameshift
c.1497C>T; p.I499I; 3:52403648-52403648	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1A>G; p.M1V; 3:52409878-52409878	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.188C>G; p.S63C; 3:52408541-52408541	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.188C>G; p.S63C; 3:52408541-52408541	pleura	mesothelioma	Substitution - Missense
c.188C>G; p.S63C; 3:52408541-52408541	pleura	mesothelioma	Substitution - Missense
c.1A>G; p.M1V; 3:52409878-52409878	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.188C>G; p.S63C; 3:52408541-52408541	eye; uveal_tract	malignant_melanoma; mixed	Substitution - Missense
c.21_32del12; p.E7_S10delELES; 3:52409847-52409858	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - In frame
c.273T>C; p.C91C; 3:52408060-52408060	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.273T>C; p.C91C; 3:52408060-52408060	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1147C>T; p.R383C; 3:52404556-52404556	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.1147C>T; p.R383C; 3:52404556-52404556	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.316G>A; p.V106M; 3:52408017-52408017	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.535C>T; p.R179W; 3:52407219-52407219	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2152C>T; p.R718W; 3:52402326-52402326	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.535C>T; p.R179W; 3:52407219-52407219	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.700_702delGTG; p.V234del; 3:52406334-52406336	pleura	mesothelioma; epithelial	Deletion - In frame
c.1018G>A; p.G340S; 3:52405208-52405208	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1892_1901del10; p.E631fs*3; 3:52402861-52402870	pleura	mesothelioma	Deletion - Frameshift
c.449G>A; p.R150H; 3:52407305-52407305	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1219delG; p.D407fs*23; 3:52404484-52404484	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.1226T>C; p.V409A; 3:52404477-52404477	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.581-5_590del15; p.?; 3:52406898-52406907	eye; uveal_tract	malignant_melanoma	Unknown
c.1981A>T; p.K661*; 3:52402781-52402781	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.193delT; p.L65fs*7; 3:52408536-52408536	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.1445C>T; p.S482L; 3:52403700-52403700	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1445C>T; p.S482L; 3:52403700-52403700	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.58_59insTG; p.E20fs*53; 3:52409722-52409723	skin	benign_melanocytic_nevus; melanocytic_tumour	Insertion - Frameshift
c.1831_1834delGAGA; p.E611fs*5; 3:52403194-52403197	eye; uveal_tract	malignant_melanoma; spindle	Deletion - Frameshift
c.1547C>T; p.P516L; 3:52403598-52403598	skin	malignant_melanoma	Substitution - Missense
c.122+2T>C; p.?; 3:52409552-52409552	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.660_783del124; p.?; 3:52406253-52406376	eye; uveal_tract	malignant_melanoma	Unknown
c.1195G>A; p.D399N; 3:52404508-52404508	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.68-16_69del18; p.?; 3:52409607-52409608	eye; uveal_tract	malignant_melanoma	Unknown
c.2090C>G; p.S697C; 3:52402388-52402388	skin; sole	malignant_melanoma; acral_lentiginous	Substitution - Missense
c.518A>G; p.Y173C; 3:52407236-52407236	eye; uveal_tract	malignant_melanoma; mixed	Substitution - Missense
c.2095_2096delCG; p.R699fs*17; 3:52402382-52402383	pleura	mesothelioma; epithelial	Deletion - Frameshift
c.128T>G; p.V43G; 3:52408601-52408601	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.227T>C; p.I76T; 3:52408502-52408502	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.502T>C; p.F168L; 3:52407252-52407252	liver	carcinoma	Substitution - Missense
c.120G>A; p.Q40Q; 3:52409556-52409556	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.283G>C; p.A95P; 3:52408050-52408050	kidney	other; neoplasm	Substitution - Missense
c.458delC; p.P153fs*34; 3:52407296-52407296	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.243C>A; p.F81L; 3:52408486-52408486	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.82C>T; p.Q28*; 3:52409594-52409594	eye; uveal_tract	malignant_melanoma	Substitution - Nonsense
c.2101C>T; p.R701C; 3:52402377-52402377	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.283G>C; p.A95P; 3:52408050-52408050	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1145_1146insG; p.R383fs*15; 3:52404557-52404558	skin; ear	benign_melanocytic_nevus; melanocytic_tumour	Insertion - Frameshift
c.82C>T; p.Q28*; 3:52409594-52409594	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Nonsense
c.2041_2042insT; p.M681fs*36; 3:52402616-52402617	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Insertion - Frameshift
c.227T>C; p.I76T; 3:52408502-52408502	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1231_1232insA; p.N411fs*7; 3:52404471-52404472	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1217_1220delAGGA; p.E406fs*23; 3:52404483-52404486	eye; uveal_tract	malignant_melanoma	Deletion - Frameshift
c.757C>T; p.Q253*; 3:52406279-52406279	eye; uveal_tract	malignant_melanoma; epithelioid	Substitution - Nonsense
c.67+1G>A; p.?; 3:52409713-52409713	eye; uveal_tract	malignant_melanoma	Unknown
c.335T>G; p.L112R; 3:52407998-52407998	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.757C>T; p.Q253*; 3:52406279-52406279	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.2134C>T; p.Q712*; 3:52402344-52402344	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.634G>A; p.E212K; 3:52406854-52406854	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.56_58delTGG; p.V19delV; 3:52409723-52409725	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - In frame
c.1274A>C; p.K425T; 3:52403871-52403871	ovary	other; neoplasm	Substitution - Missense
c.580G>T; p.G194W; 3:52407174-52407174	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.790_790delA; p.R264fs*2; 3:52405906-52405906	eye; uveal_tract	malignant_melanoma	Deletion - Frameshift
c.256-13_256-1del; p.?; 3:52408078-52408090	pleura	mesothelioma; epithelial	Unknown
c.790_790delA; p.R264fs*2; 3:52405906-52405906	eye; uveal_tract	malignant_melanoma	Deletion - Frameshift
c.829C>T; p.Q277*; 3:52405867-52405867	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.851A>G; p.E284G; 3:52405845-52405845	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.661G>T; p.E221*; 3:52406375-52406375	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Nonsense
c.829C>T; p.Q277*; 3:52405867-52405867	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1558T>C; p.S520P; 3:52403587-52403587	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.376-1G>A; p.?; 3:52407461-52407461	skin	malignant_melanoma	Unknown
c.845_853del9; p.E283_S285del; 3:52405843-52405851	eye; uveal_tract	malignant_melanoma; mixed	Deletion - In frame
c.2110delG; p.V704fs*>26; 3:52402368-52402368	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.1182C>G; p.Y394*; 3:52404521-52404521	pleura	mesothelioma; biphasic	Substitution - Nonsense
c.580+2T>C; p.?; 3:52407172-52407172	pleura	mesothelioma	Unknown
c.936T>G; p.G312G; 3:52405290-52405290	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.999_1050del52; p.V335fs*10; 3:52405176-52405227	skin; arm	malignant_melanoma	Deletion - Frameshift
c.254A>C; p.Q85P; 3:52408475-52408475	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.1944G>A; p.A648A; 3:52402818-52402818	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1821G>A; p.T607T; 3:52403207-52403207	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.812T>C; p.I271T; 3:52405884-52405884	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.781C>T; p.Q261*; 3:52406255-52406255	breast	carcinoma; ductal_carcinoma	Substitution - Nonsense
c.915_916insTG; p.E306fs*30; 3:52405780-52405781	eye; uveal_tract	malignant_melanoma; mixed	Insertion - Frameshift
c.781C>T; p.Q261*; 3:52406255-52406255	eye; uveal_tract	malignant_melanoma	Substitution - Nonsense
c.125_145del21; p.P42_F48del; 3:52408584-52408604	eye; uveal_tract	malignant_melanoma	Deletion - In frame
c.436_436A>CG; p.P147fs*8; 3:52407400-52407400	pleura	mesothelioma; epithelial	Complex - frameshift
c.781C>T; p.Q261*; 3:52406255-52406255	eye; uveal_tract	malignant_melanoma	Substitution - Nonsense
c.836C>T; p.S279L; 3:52405860-52405860	ovary	other; neoplasm	Substitution - Missense
c.1974G>A; p.K658K; 3:52402788-52402788	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.781C>T; p.Q261*; 3:52406255-52406255	eye; uveal_tract	malignant_melanoma	Substitution - Nonsense
c.1911_1913delGTG; p.K637_C638>N; 3:52402849-52402851	eye; uveal_tract	malignant_melanoma; epithelioid	Complex - deletion inframe
c.907G>C; p.A303P; 3:52405789-52405789	salivary_gland; parotid	carcinoma; adenoid_cystic_carcinoma	Substitution - Missense
c.166C>T; p.R56C; 3:52408563-52408563	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.2057-4G>T; p.?; 3:52402425-52402425	pleura	mesothelioma	Unknown
c.92A>C; p.E31A; 3:52409584-52409584	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.488G>A; p.R163Q; 3:52407266-52407266	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2057-4G>T; p.?; 3:52402425-52402425	pleura	mesothelioma	Unknown
c.1161_1162insCA; p.V388fs*43; 3:52404541-52404542	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.2023_2024insATA; p.F674_I675insN; 3:52402634-52402635	skin; arm	benign_melanocytic_nevus; melanocytic_tumour	Insertion - In frame
c.383G>T; p.G128V; 3:52407453-52407453	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.353_372del20; p.F118fs*1; 3:52407961-52407980	eye; uveal_tract	malignant_melanoma; mixed	Deletion - Frameshift
c.1573_1580delTCCCACAT; p.S525fs*9; 3:52403565-52403572	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.37+1G>A; p.?; 3:52409841-52409841	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Unknown
c.2015A>G; p.D672G; 3:52402643-52402643	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.1839G>A; p.T613T; 3:52403189-52403189	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2015A>G; p.D672G; 3:52402643-52402643	eye; uveal_tract	malignant_melanoma; spindle	Substitution - Missense
c.778C>T; p.Q260*; 3:52406258-52406258	pleura	mesothelioma	Substitution - Nonsense
c.172_179delTCCCGGCG; p.S58fs*8; 3:52408550-52408557	eye; uveal_tract	malignant_melanoma	Deletion - Frameshift
c.2000G>A; p.R667K; 3:52402658-52402658	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3G>A; p.M1I; 3:52409876-52409876	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3G>A; p.M1I; 3:52409876-52409876	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1518A>G; p.P506P; 3:52403627-52403627	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3G>A; p.M1I; 3:52409876-52409876	skin; scalp	benign_melanocytic_nevus; melanocytic_tumour	Substitution - Missense
c.3G>A; p.M1I; 3:52409876-52409876	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.3G>A; p.M1I; 3:52409876-52409876	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2188T>A; p.*730?; 3:52402290-52402290	eye; uveal_tract	malignant_melanoma; mixed	Nonstop extension
c.2188T>A; p.*730?; 3:52402290-52402290	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Nonstop extension
c.851_858delAGTCCAAG; p.E284fs*20; 3:52405838-52405845	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.2028_2046del19; p.C676fs*10; 3:52402612-52402630	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.1787_1806del20; p.S597fs*39; 3:52403222-52403241	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.1116G>T; p.Q372H; 3:52405110-52405110	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1729+1G>T; p.?; 3:52403415-52403415	eye; uveal_tract	malignant_melanoma; spindle	Unknown
c.1116G>T; p.Q372H; 3:52405110-52405110	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.896A>G; p.N299S; 3:52405800-52405800	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.438-19_441del23; p.?; 3:52407313-52407335	pleura	mesothelioma; epithelial	Unknown
c.67+1G>A; p.?; 3:52409713-52409713	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.2054A>T; p.E685V; 3:52402604-52402604	pleura	mesothelioma	Substitution - Missense
c.602_602delA; p.E201fs*30; 3:52406886-52406886	pleura	mesothelioma	Deletion - Frameshift
c.904_905insT; p.P302fs*5; 3:52405791-52405792	eye; uveal_tract	malignant_melanoma	Insertion - Frameshift
c.155_158delGGAT; p.W52fs*19; 3:52408571-52408574	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.662_662delA; p.E221fs*10; 3:52406374-52406374	eye; uveal_tract	malignant_melanoma	Deletion - Frameshift
c.662_662delA; p.E221fs*10; 3:52406374-52406374	eye; uveal_tract	malignant_melanoma	Deletion - Frameshift
c.376-9_416del50; p.?; 3:52407420-52407469	eye; uveal_tract	malignant_melanoma	Unknown
c.569C>A; p.P190H; 3:52407185-52407185	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.966_978del13; p.P324fs*7; 3:52405248-52405260	pleura	mesothelioma	Deletion - Frameshift
c.406G>T; p.E136*; 3:52407430-52407430	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1932_1948del17; p.N645fs*13; 3:52402814-52402830	eye; uveal_tract	malignant_melanoma	Deletion - Frameshift
c.38G>T; p.G13V; 3:52409743-52409743	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.801G>A; p.Q267Q; 3:52405895-52405895	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.256-?_375+?del; p.?; 3:52407958-52408077	pleura	mesothelioma	Unknown
c.661delG; p.E221fs*10; 3:52406375-52406375	skin; eye	malignant_melanoma	Deletion - Frameshift
c.38G>T; p.G13V; 3:52409743-52409743	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1881C>G; p.Y627*; 3:52403147-52403147	eye; uveal_tract	malignant_melanoma	Substitution - Nonsense
c.1881C>G; p.Y627*; 3:52403147-52403147	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1997_2005del9; p.R666_H669>N; 3:52402653-52402661	eye; uveal_tract	malignant_melanoma; mixed	Complex - deletion inframe
c.1954G>A; p.E652K; 3:52402808-52402808	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1069C>A; p.L357M; 3:52405157-52405157	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.160G>T; p.E54*; 3:52408569-52408569	pleura	mesothelioma	Substitution - Nonsense
c.685A>C; p.N229H; 3:52406351-52406351	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1259_1260insTAGGG; p.K421fs*11; 3:52403885-52403886	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Insertion - Frameshift
c.1012C>T; p.P338S; 3:52405214-52405214	urinary_tract; bladder	carcinoma	Substitution - Missense
c.335T>C; p.L112P; 3:52407998-52407998	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.40_52del13; p.L14fs*54; 3:52409729-52409741	eye; uveal_tract	malignant_melanoma	Deletion - Frameshift
c.916G>T; p.E306*; 3:52405780-52405780	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1252delT; p.Y418fs*12; 3:52403893-52403893	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.2149C>T; p.R717W; 3:52402329-52402329	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.527T>C; p.I176T; 3:52407227-52407227	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.507C>G; p.H169Q; 3:52407247-52407247	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.507C>G; p.H169Q; 3:52407247-52407247	eye; uveal_tract	malignant_melanoma; mixed	Substitution - Missense
c.599A>G; p.E200G; 3:52406889-52406889	breast	carcinoma	Substitution - Missense
c.1666_1669delGTCA; p.V556fs*14; 3:52403476-52403479	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Deletion - Frameshift
c.659+1G>A; p.?; 3:52406828-52406828	eye; uveal_tract	malignant_melanoma	Unknown
c.507C>G; p.H169Q; 3:52407247-52407247	eye; uveal_tract	malignant_melanoma; epithelioid	Substitution - Missense
c.932-2A>G; p.?; 3:52405296-52405296	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.512T>A; p.V171D; 3:52407242-52407242	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.6_7insAT; p.K3fs*70; 3:52409872-52409873	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Insertion - Frameshift
c.38-12_63del38; p.?; 3:52409718-52409755	eye; uveal_tract	malignant_melanoma; mixed	Unknown
c.134G>A; p.G45E; 3:52408595-52408595	skin; ear	benign_melanocytic_nevus; melanocytic_tumour	Substitution - Missense
c.118C>T; p.Q40*; 3:52409558-52409558	pleura	mesothelioma	Substitution - Nonsense
c.592G>T; p.E198*; 3:52406896-52406896	skin; scalp	benign_melanocytic_nevus; melanocytic_tumour	Substitution - Nonsense
c.1714_1718delCCCCT; p.P572fs*69; 3:52403427-52403431	eye; uveal_tract	malignant_melanoma; epithelioid	Deletion - Frameshift
c.1231_1232insGA; p.N411fs*20; 3:52404471-52404472	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Insertion - Frameshift
c.118C>T; p.Q40*; 3:52409558-52409558	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.459_459delT; p.E154fs*33; 3:52407295-52407295	skin; shoulder	other; atypical_Spitzoid_tumour	Deletion - Frameshift
c.10G>T; p.G4C; 3:52409869-52409869	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.134G>A; p.G45E; 3:52408595-52408595	breast	carcinoma	Substitution - Missense
c.71T>A; p.V24D; 3:52409605-52409605	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.758A>T; p.Q253L; 3:52406278-52406278	liver	carcinoma	Substitution - Missense
c.1701_1702insCT; p.G568fs*4; 3:52403443-52403444	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Insertion - Frameshift
c.573_580+15del8; p.?; 3:52407159-52407181	eye; uveal_tract	malignant_melanoma; epithelioid	Unknown
c.759_759delG; p.T254fs*3; 3:52406277-52406277	eye; uveal_tract	malignant_melanoma; mixed	Deletion - Frameshift
c.382G>C; p.G128R; 3:52407454-52407454	eye; uveal_tract	malignant_melanoma; spindle	Substitution - Missense
c.122+2T>A; p.?; 3:52409552-52409552	pleura	mesothelioma	Unknown
c.187T>C; p.S63P; 3:52408542-52408542	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1271_1274delGGAA; p.K425fs*4; 3:52403871-52403874	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.122+2T>A; p.?; 3:52409552-52409552	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.187T>C; p.S63P; 3:52408542-52408542	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.586T>G; p.W196G; 3:52406902-52406902	liver	carcinoma	Substitution - Missense
c.680G>C; p.R227P; 3:52406356-52406356	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.509T>G; p.F170C; 3:52407245-52407245	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.745A>G; p.K249E; 3:52406291-52406291	liver	carcinoma	Substitution - Missense
c.2056G>T; p.G686C; 3:52402602-52402602	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1717_1717delC; p.L573fs*3; 3:52403428-52403428	eye; uveal_tract	malignant_melanoma	Deletion - Frameshift
c.1717_1717delC; p.L573fs*3; 3:52403428-52403428	skin; scalp	benign_melanocytic_nevus; melanocytic_tumour	Deletion - Frameshift
c.456C>T; p.L152L; 3:52407298-52407298	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1717_1717delC; p.L573fs*3; 3:52403428-52403428	eye; uveal_tract	malignant_melanoma	Deletion - Frameshift
c.1717_1717delC; p.L573fs*3; 3:52403428-52403428	eye; uveal_tract	malignant_melanoma	Deletion - Frameshift
c.680G>A; p.R227H; 3:52406356-52406356	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.680G>A; p.R227H; 3:52406356-52406356	prostate	carcinoma	Substitution - Missense
c.993_993delA; p.K331fs*4; 3:52405233-52405233	eye; uveal_tract	malignant_melanoma	Deletion - Frameshift
c.1604_1604delA; p.D535fs*36; 3:52403541-52403541	pleura	mesothelioma; biphasic	Deletion - Frameshift
c.455_456delTC; p.L152fs*2; 3:52407298-52407299	skin	malignant_melanoma	Deletion - Frameshift
c.1315G>T; p.V439L; 3:52403830-52403830	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.1486G>A; p.A496T; 3:52403659-52403659	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1986_1989delTGAT; p.I662fs*29; 3:52402669-52402672	eye; uveal_tract	malignant_melanoma	Deletion - Frameshift
c.68-9_72del14; p.?; 3:52409604-52409617	eye; uveal_tract	malignant_melanoma	Unknown
c.68-9_72del14; p.?; 3:52409604-52409617	eye; uveal_tract	malignant_melanoma	Unknown
c.1987G>C; p.D663H; 3:52402671-52402671	urinary_tract; bladder	carcinoma	Substitution - Missense
c.568_569CC>T; p.P190fs*41; 3:52407185-52407186	skin; neck	benign_melanocytic_nevus; compound	Deletion - Frameshift
c.58G>T; p.E20*; 3:52409723-52409723	eye; uveal_tract	malignant_melanoma	Substitution - Nonsense
c.58G>T; p.E20*; 3:52409723-52409723	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1031A>G; p.N344S; 3:52405195-52405195	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.458_459delCT; p.P153fs*7; 3:52407295-52407296	eye; uveal_tract	malignant_melanoma	Deletion - Frameshift
c.889G>T; p.E297*; 3:52405807-52405807	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.160G>A; p.E54K; 3:52408569-52408569	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.10_27del18; p.G4_E9del; 3:52409852-52409869	eye; uveal_tract	malignant_melanoma	Deletion - In frame
c.299_315del17; p.L100fs*20; 3:52408018-52408034	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.144_144delC; p.L49fs*23; 3:52408585-52408585	eye; uveal_tract	malignant_melanoma; spindle	Deletion - Frameshift
c.848delA; p.E283fs*52; 3:52405848-52405848	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.202_227del26; p.D68fs*3; 3:52408502-52408527	eye; uveal_tract	malignant_melanoma	Deletion - Frameshift
c.1730-9_1732delTCTTCCCAGAGG; p.?; 3:52403296-52403307	prostate	carcinoma	Unknown
c.1550C>T; p.T517M; 3:52403595-52403595	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1550C>T; p.T517M; 3:52403595-52403595	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1550C>T; p.T517M; 3:52403595-52403595	large_intestine; colon	carcinoma	Substitution - Missense
c.1550C>T; p.T517M; 3:52403595-52403595	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.510T>A; p.F170L; 3:52407244-52407244	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1250G>T; p.R417M; 3:52404453-52404453	skin	malignant_melanoma	Substitution - Missense
c.133G>A; p.G45R; 3:52408596-52408596	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.692T>C; p.M231T; 3:52406344-52406344	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.692T>C; p.M231T; 3:52406344-52406344	urinary_tract; bladder	carcinoma	Substitution - Missense
c.354_354delC; p.F118fs*69; 3:52407979-52407979	pleura	mesothelioma	Deletion - Frameshift
c.512_512delT; p.V171fs*16; 3:52407242-52407242	pleura	mesothelioma; epithelial	Deletion - Frameshift
c.354_354delC; p.F118fs*69; 3:52407979-52407979	pleura	mesothelioma	Deletion - Frameshift
c.92A>G; p.E31G; 3:52409584-52409584	thyroid	carcinoma	Substitution - Missense
c.784-2A>C; p.?; 3:52405914-52405914	pleura	mesothelioma; epithelial	Unknown
c.1538C>G; p.S513*; 3:52403607-52403607	pleura	mesothelioma	Substitution - Nonsense
c.1557delC; p.S520fs*51; 3:52403588-52403588	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.1379C>G; p.S460*; 3:52403766-52403766	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1291G>A; p.G431S; 3:52403854-52403854	breast	carcinoma	Substitution - Missense
c.1379C>G; p.S460*; 3:52403766-52403766	eye; uveal_tract	malignant_melanoma	Substitution - Nonsense
c.1952_1953insG; p.E652fs*12; 3:52402809-52402810	pleura	mesothelioma; epithelial	Insertion - Frameshift
c.1794_1797delAGTG; p.V599fs*17; 3:52403231-52403234	pleura	mesothelioma; biphasic	Deletion - Frameshift
c.1557delC; p.S520fs*51; 3:52403588-52403588	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.2077G>T; p.E693*; 3:52402401-52402401	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.2188T>G; p.*730G; 3:52402290-52402290	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Nonstop extension
c.1557delC; p.S520fs*51; 3:52403588-52403588	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.1557delC; p.S520fs*51; 3:52403588-52403588	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.1557delC; p.S520fs*51; 3:52403588-52403588	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.1508delT; p.F503fs*68; 3:52403637-52403637	liver	carcinoma	Deletion - Frameshift
c.224A>G; p.D75G; 3:52408505-52408505	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1379C>G; p.S460*; 3:52403766-52403766	pleura	mesothelioma; epithelial	Substitution - Nonsense
c.1642C>T; p.R548C; 3:52403503-52403503	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.700_700delG; p.V234fs*15; 3:52406336-52406336	pleura	mesothelioma; epithelial	Deletion - Frameshift
c.553G>A; p.G185R; 3:52407201-52407201	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.553G>A; p.G185R; 3:52407201-52407201	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.553G>A; p.G185R; 3:52407201-52407201	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.553G>A; p.G185R; 3:52407201-52407201	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.553G>A; p.G185R; 3:52407201-52407201	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.553G>A; p.G185R; 3:52407201-52407201	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.553G>A; p.G185R; 3:52407201-52407201	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.553G>A; p.G185R; 3:52407201-52407201	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.241T>G; p.F81V; 3:52408488-52408488	pleura	mesothelioma; epithelial	Substitution - Missense
c.580G>A; p.G194R; 3:52407174-52407174	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.133G>T; p.G45*; 3:52408596-52408596	skin; upper_arm	benign_melanocytic_nevus; melanocytic_tumour	Substitution - Nonsense
c.295G>A; p.V99M; 3:52408038-52408038	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.558G>A; p.L186L; 3:52407196-52407196	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.437G>A; p.R146K; 3:52407399-52407399	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.2099G>A; p.R700Q; 3:52402379-52402379	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2099G>A; p.R700Q; 3:52402379-52402379	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.934G>T; p.G312C; 3:52405292-52405292	prostate	carcinoma	Substitution - Missense
c.1497_1497delC; p.I499fs*72; 3:52403648-52403648	pleura	mesothelioma; epithelial	Deletion - Frameshift
c.88G>T; p.E30*; 3:52409588-52409588	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1526C>A; p.S509*; 3:52403619-52403619	pancreas	carcinoma	Substitution - Nonsense
c.1891G>C; p.E631Q; 3:52402871-52402871	urinary_tract; bladder	carcinoma	Substitution - Missense
c.901G>A; p.A301T; 3:52405795-52405795	skin; upper_arm	benign_melanocytic_nevus; melanocytic_tumour	Substitution - Missense
c.1526C>A; p.S509*; 3:52403619-52403619	pancreas	carcinoma	Substitution - Nonsense
c.51G>T; p.L17L; 3:52409730-52409730	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.784-2A>T; p.?; 3:52405914-52405914	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.38-1G>C; p.?; 3:52409744-52409744	eye; uveal_tract	malignant_melanoma	Unknown
c.784-2A>T; p.?; 3:52405914-52405914	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1526C>A; p.S509*; 3:52403619-52403619	pancreas	carcinoma	Substitution - Nonsense
c.466C>T; p.Q156*; 3:52407288-52407288	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1810G>A; p.V604M; 3:52403218-52403218	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.290T>A; p.L97Q; 3:52408043-52408043	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.229_232delGTGA; p.V77fs*9; 3:52408497-52408500	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.581-?_659+?del; p.?; 3:52406829-52406907	pleura	mesothelioma	Unknown
c.581-?_659+?del; p.?; 3:52406829-52406907	pleura	mesothelioma	Unknown
c.581-?_659+?del; p.?; 3:52406829-52406907	pleura	mesothelioma	Unknown
c.581-?_659+?del; p.?; 3:52406829-52406907	pleura	mesothelioma	Unknown
c.581-?_659+?del; p.?; 3:52406829-52406907	pleura	mesothelioma	Unknown
c.253C>T; p.Q85*; 3:52408476-52408476	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.253C>T; p.Q85*; 3:52408476-52408476	eye; uveal_tract	malignant_melanoma	Substitution - Nonsense
c.422A>G; p.H141R; 3:52407414-52407414	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.581-?_659+?del; p.?; 3:52406829-52406907	pleura	mesothelioma	Unknown
c.151_215del65; p.K51fs*1; 3:52408514-52408578	eye; uveal_tract	malignant_melanoma	Deletion - Frameshift
c.619C>T; p.R207W; 3:52406869-52406869	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.679C>T; p.R227C; 3:52406357-52406357	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.679C>T; p.R227C; 3:52406357-52406357	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1652G>A; p.R551H; 3:52403493-52403493	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.434C>G; p.A145G; 3:52407402-52407402	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.376-7_418del50; p.?; 3:52407418-52407467	eye; uveal_tract	malignant_melanoma; mixed	Unknown
c.34C>G; p.P12A; 3:52409845-52409845	ovary	other; neoplasm	Substitution - Missense
c.812_821del10; p.I271fs*61; 3:52405875-52405884	eye; uveal_tract	malignant_melanoma	Deletion - Frameshift
c.673G>A; p.D225N; 3:52406363-52406363	NS	NS	Substitution - Missense
c.2010_2035del26; p.Y671fs*37; 3:52402623-52402648	breast	carcinoma	Deletion - Frameshift
c.508T>G; p.F170V; 3:52407246-52407246	prostate	carcinoma	Substitution - Missense
c.508T>G; p.F170V; 3:52407246-52407246	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2132delA; p.K711fs*>19; 3:52402346-52402346	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.920G>A; p.G307D; 3:52405776-52405776	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.256-25_270del40; p.?; 3:52408063-52408077	eye; uveal_tract	malignant_melanoma	Unknown
c.241T>C; p.F81L; 3:52408488-52408488	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.88G>A; p.E30K; 3:52409588-52409588	skin	malignant_melanoma	Substitution - Missense
c.1074G>A; p.P358P; 3:52405152-52405152	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.382G>T; p.G128*; 3:52407454-52407454	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.382G>T; p.G128*; 3:52407454-52407454	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.836C>A; p.S279*; 3:52405860-52405860	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.838C>T; p.Q280*; 3:52405858-52405858	breast	carcinoma	Substitution - Nonsense
c.1257G>T; p.K419N; 3:52403888-52403888	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.734T>C; p.L245P; 3:52406302-52406302	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.102_111del10; p.D34fs*35; 3:52409565-52409574	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.91G>A; p.E31K; 3:52409585-52409585	eye; uveal_tract	malignant_melanoma; spindle	Substitution - Missense
c.915_916insT; p.E306fs*1; 3:52405780-52405781	eye; uveal_tract	malignant_melanoma	Insertion - Frameshift
c.67+2T>G; p.?; 3:52409712-52409712	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.256-1G>A; p.?; 3:52408078-52408078	eye; uveal_tract	malignant_melanoma	Unknown
c.1358_1359delAA; p.K453fs*15; 3:52403786-52403787	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.256-1G>A; p.?; 3:52408078-52408078	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.860C>G; p.S287*; 3:52405836-52405836	pleura	mesothelioma	Substitution - Nonsense
c.860C>G; p.S287*; 3:52405836-52405836	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.273T>G; p.C91W; 3:52408060-52408060	pleura	mesothelioma	Substitution - Missense
c.273T>G; p.C91W; 3:52408060-52408060	eye; uveal_tract	malignant_melanoma; mixed	Substitution - Missense
c.870delC; p.N290fs*45; 3:52405826-52405826	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.178C>T; p.R60*; 3:52408551-52408551	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1081C>G; p.L361V; 3:52405145-52405145	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.178C>T; p.R60*; 3:52408551-52408551	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2T>C; p.M1T; 3:52409877-52409877	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2T>C; p.M1T; 3:52409877-52409877	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.178C>T; p.R60*; 3:52408551-52408551	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.178C>T; p.R60*; 3:52408551-52408551	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Nonsense
c.178C>T; p.R60*; 3:52408551-52408551	skin; upper_back	other; atypical_Spitzoid_tumour	Substitution - Nonsense
c.178C>T; p.R60*; 3:52408551-52408551	eye; uveal_tract	malignant_melanoma	Substitution - Nonsense
c.1937_1955del19; p.Y646fs*3; 3:52402807-52402825	pleura	mesothelioma	Deletion - Frameshift
c.404C>G; p.P135R; 3:52407432-52407432	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.242T>C; p.F81S; 3:52408487-52408487	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1023_1023delC; p.S341fs*21; 3:52405203-52405203	pleura	mesothelioma; epithelial	Deletion - Frameshift
c.68-2A>G; p.?; 3:52409610-52409610	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Unknown
c.106C>T; p.Q36*; 3:52409570-52409570	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1793delC; p.P598fs*19; 3:52403235-52403235	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.226_239del14; p.I76fs*45; 3:52408490-52408503	eye; uveal_tract	malignant_melanoma	Deletion - Frameshift
c.106C>T; p.Q36*; 3:52409570-52409570	eye; uveal_tract	malignant_melanoma; epithelioid	Substitution - Nonsense
c.1564C>A; p.P522T; 3:52403581-52403581	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.709C>T; p.R237C; 3:52406327-52406327	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1984-1G>T; p.?; 3:52402675-52402675	kidney	other; neoplasm	Unknown
c.1984-1G>T; p.?; 3:52402675-52402675	urinary_tract; bladder	carcinoma	Unknown
c.38-1_38delGG; p.?; 3:52409743-52409744	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.1984-1G>T; p.?; 3:52402675-52402675	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Unknown
c.1984-1G>T; p.?; 3:52402675-52402675	eye; uveal_tract	malignant_melanoma; mixed	Unknown
c.1768C>T; p.Q590*; 3:52403260-52403260	skin; upper_back	other; atypical_Spitzoid_tumour	Substitution - Nonsense
c.1973A>G; p.K658R; 3:52402789-52402789	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1973A>G; p.K658R; 3:52402789-52402789	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1768C>T; p.Q590*; 3:52403260-52403260	skin; shoulder	benign_melanocytic_nevus; melanocytic_tumour	Substitution - Nonsense
c.1973A>G; p.K658R; 3:52402789-52402789	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.145_145delC; p.L49fs*23; 3:52408584-52408584	eye; uveal_tract	malignant_melanoma	Deletion - Frameshift
c.654T>C; p.T218T; 3:52406834-52406834	liver	carcinoma	Substitution - coding silent
c.1574C>G; p.S525C; 3:52403571-52403571	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.698delT; p.V233fs*16; 3:52406338-52406338	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Deletion - Frameshift
c.510_511insT; p.V171fs*12; 3:52407243-52407244	skin; back	benign_melanocytic_nevus; melanocytic_tumour	Insertion - Frameshift
c.673G>C; p.D225H; 3:52406363-52406363	urinary_tract; bladder	carcinoma	Substitution - Missense
c.155G>A; p.W52*; 3:52408574-52408574	skin; ear	benign_melanocytic_nevus; melanocytic_tumour	Substitution - Nonsense
c.655delG; p.A219fs*12; 3:52406833-52406833	eye; uveal_tract	malignant_melanoma; spindle	Deletion - Frameshift
c.50T>C; p.L17P; 3:52409731-52409731	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2137C>T; p.R713W; 3:52402341-52402341	liver	carcinoma	Substitution - Missense
c.430C>A; p.H144N; 3:52407406-52407406	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.705C>T; p.P235P; 3:52406331-52406331	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2137C>T; p.R713W; 3:52402341-52402341	liver	carcinoma	Substitution - Missense
c.516C>G; p.S172R; 3:52407238-52407238	eye; uveal_tract	malignant_melanoma; spindle	Substitution - Missense
c.516C>G; p.S172R; 3:52407238-52407238	skin	other; atypical_Spitzoid_tumour	Substitution - Missense
c.516C>G; p.S172R; 3:52407238-52407238	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.516C>G; p.S172R; 3:52407238-52407238	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.1863_1864CT>TA; p.L622M; 3:52403164-52403165	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2149delC; p.R717fs*>13; 3:52402329-52402329	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.1882_1885delTCAC; p.S628fs*8; 3:52403143-52403146	eye; uveal_tract	malignant_melanoma	Deletion - Frameshift
c.2188T>C; p.*730R; 3:52402290-52402290	large_intestine; colon	carcinoma; adenocarcinoma	Nonstop extension
c.1306C>T; p.Q436*; 3:52403839-52403839	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.799C>T; p.Q267*; 3:52405897-52405897	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.170_177GGTCCCGG>AGT; p.R57fs*10; 3:52408552-52408559	eye; uveal_tract	malignant_melanoma	Complex - frameshift
c.1553_1559delGGCCCTC; p.R518fs*51; 3:52403586-52403592	pleura	mesothelioma; epithelial	Deletion - Frameshift
c.524C>A; p.P175H; 3:52407230-52407230	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.326G>T; p.G109V; 3:52408007-52408007	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.323_324delTG; p.L108fs*17; 3:52408009-52408010	pleura	mesothelioma; epithelial	Deletion - Frameshift
c.1856G>A; p.G619D; 3:52403172-52403172	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2057-5C>G; p.?; 3:52402426-52402426	pancreas	carcinoma	Unknown

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation