Entrez Gene

Basic Information
Gene ID	8314
Name	BAP1
Synonymous	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase);BAP1;BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
Definition	cerebral protein 6\|cerebral protein-13\|ubiquitin carboxyl-terminal hydrolase BAP1
Position	3p21.1
Gene Type	protein-coding
Mutation summary:	Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72

Mutation summary in protein domains

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

Loss of Function mutations compare to missense mutations

Top

The ratio of the loss-of-function mutations over missense mutations is 0.48.

The copy number variations for various cancers

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

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.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

Mutation summary in protein domains

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

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Loss of Function mutations compare to missense mutations

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The copy number variations for various cancers

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COSMIC somatic mutation [Top]