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Gene information | Literature | Expression | lncRNA | Mutation | Homolog

Basic Information

Gene ID

54894

Name

RNF43

Synonymous

ring finger protein 43;RNF43;ring finger protein 43

Definition

E3 ubiquitin-protein ligase RNF43

Position

17q22

Gene Type

protein-coding

COSMIC confirmed somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.122delC; p.S41fs*1; 17:58415456-58415456

adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningDeletion - Frameshift

c.554G>T; p.R185M; 17:58363303-58363303

autonomic_ganglianeuroblastomaSubstitution - Missense

c.2177G>T; p.W726L; 17:58357599-58357599

autonomic_ganglianeuroblastomaSubstitution - Missense

c.611C>G; p.T204R; 17:58362620-58362620

biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - Missense

c.337C>T; p.R113*; 17:58370949-58370949

biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2167C>T; p.Q723*; 17:58357609-58357609

biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2085G>T; p.E695D; 17:58357691-58357691

biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.355T>C; p.C119R; 17:58370931-58370931

biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - Missense

c.500A>T; p.N167I; 17:58363357-58363357

biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - Missense

c.996C>A; p.Y332*; 17:58358780-58358780

biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Nonsense

c.1564A>C; p.M522L; 17:58358212-58358212

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1028G>A; p.R343H; 17:58358748-58358748

breastcarcinomaSubstitution - Missense

c.272G>A; p.C91Y; 17:58371014-58371014

breastcarcinomaSubstitution - Missense

c.181C>A; p.L61M; 17:58415397-58415397

breastcarcinomaSubstitution - Missense

c.103G>T; p.A35S; 17:58415475-58415475

breastcarcinomaSubstitution - Missense

c.1539_1551del13; p.K514fs*9; 17:58358225-58358237

breastcarcinomaDeletion - Frameshift

c.1820C>T; p.S607L; 17:58357956-58357956

breastcarcinomaSubstitution - Missense

c.1555C>T; p.R519*; 17:58358221-58358221

central_nervous_system; braingliomaSubstitution - Nonsense

c.1948C>T; p.R650*; 17:58357828-58357828

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Nonsense

c.1621G>A; p.E541K; 17:58358155-58358155

central_nervous_system; temporal_lobeglioma; astrocytoma_Grade_IISubstitution - Missense

c.1621G>A; p.E541K; 17:58358155-58358155

central_nervous_system; temporal_lobeglioma; astrocytoma_Grade_IISubstitution - Missense

c.1800A>C; p.R600S; 17:58357976-58357976

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1800A>C; p.R600S; 17:58357976-58357976

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.674G>A; p.R225H; 17:58362557-58362557

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1347C>T; p.S449S; 17:58358429-58358429

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1555C>T; p.R519*; 17:58358221-58358221

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.648G>A; p.S216S; 17:58362583-58362583

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.232G>A; p.A78T; 17:58415346-58415346

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.460C>T; p.P154S; 17:58363397-58363397

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1939C>A; p.L647I; 17:58357837-58357837

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1592G>A; p.R531H; 17:58358184-58358184

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.254C>T; p.S85F; 17:58371032-58371032

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.906delG; p.W302fs*117; 17:58360195-58360195

endometriumcarcinoma; endometrioid_carcinomaDeletion - Frameshift

c.656G>A; p.R219H; 17:58362575-58362575

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.64C>T; p.Q22*; 17:58415514-58415514

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.461C>T; p.P154L; 17:58363396-58363396

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1759C>T; p.P587S; 17:58358017-58358017

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.583-2A>T; p.?; 17:58362650-58362650

endometriumcarcinoma; endometrioid_carcinomaUnknown

c.856C>T; p.R286W; 17:58360245-58360245

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.573C>T; p.P191P; 17:58363284-58363284

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1070A>G; p.Y357C; 17:58358706-58358706

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1820C>T; p.S607L; 17:58357956-58357956

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1009C>T; p.R337*; 17:58358767-58358767

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.394C>T; p.R132*; 17:58363582-58363582

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.548A>G; p.H183R; 17:58363309-58363309

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.305G>A; p.G102E; 17:58370981-58370981

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.319G>C; p.V107L; 17:58370967-58370967

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.52A>G; p.M18V; 17:58415526-58415526

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1595C>T; p.S532F; 17:58358181-58358181

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.518T>C; p.M173T; 17:58363339-58363339

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1484C>A; p.S495Y; 17:58358292-58358292

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.156_157insC; p.K54fs*21; 17:58415421-58415422

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.857G>A; p.R286Q; 17:58360244-58360244

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1645C>A; p.H549N; 17:58358131-58358131

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.832_834delGAG; p.E278delE; 17:58360798-58360800

large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.832_834delGAG; p.E278delE; 17:58360798-58360800

large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.562C>T; p.L188L; 17:58363295-58363295

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1984G>A; p.E662K; 17:58357792-58357792

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1321_1322insA; p.P441fs*2; 17:58358454-58358455

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1826G>A; p.R609Q; 17:58357950-58357950

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.704_705delGA; p.R235fs*23; 17:58360927-58360928

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.245T>C; p.L82S; 17:58415333-58415333

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.344delC; p.R117fs*41; 17:58370942-58370942

large_intestine; coloncarcinomaDeletion - Frameshift

c.1556G>A; p.R519Q; 17:58358220-58358220

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.647C>T; p.S216L; 17:58362584-58362584

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.647C>T; p.S216L; 17:58362584-58362584

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2311T>A; p.S771T; 17:58354984-58354984

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.322A>G; p.K108E; 17:58370964-58370964

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.322A>G; p.K108E; 17:58370964-58370964

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1885G>A; p.A629T; 17:58357891-58357891

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.825_828delTCTG; p.C275fs*143; 17:58360804-58360807

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.143T>C; p.I48T; 17:58415435-58415435

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1340G>A; p.G447E; 17:58358436-58358436

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1885delG; p.A629fs*71; 17:58357891-58357891

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.859G>T; p.V287F; 17:58360242-58360242

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.48delG; p.L17fs*1; 17:58415530-58415530

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.349_350insC; p.R117fs*8; 17:58370936-58370937

large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.349_350insC; p.R117fs*8; 17:58370936-58370937

large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.349_350insC; p.R117fs*8; 17:58370936-58370937

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.640C>A; p.L214M; 17:58362591-58362591

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.640C>A; p.L214M; 17:58362591-58362591

large_intestine; coloncarcinomaSubstitution - Missense

c.640C>A; p.L214M; 17:58362591-58362591

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.599G>A; p.W200*; 17:58362632-58362632

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1590T>C; p.P530P; 17:58358186-58358186

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2090A>G; p.H697R; 17:58357686-58357686

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1166G>A; p.R389H; 17:58358610-58358610

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1166G>A; p.R389H; 17:58358610-58358610

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1924T>G; p.L642V; 17:58357852-58357852

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1883A>G; p.D628G; 17:58357893-58357893

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1883A>G; p.D628G; 17:58357893-58357893

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.424A>G; p.T142A; 17:58363552-58363552

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1360C>T; p.R454C; 17:58358416-58358416

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.398G>A; p.G133E; 17:58363578-58363578

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.199G>T; p.G67C; 17:58415379-58415379

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.433C>T; p.R145*; 17:58363543-58363543

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.2058delC; p.S687fs*13; 17:58357718-58357718

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2055C>A; p.T685T; 17:58357721-58357721

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.883delC; p.H295fs*124; 17:58360218-58360218

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1436_1437delTG; p.V479fs*25; 17:58358339-58358340

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1310G>A; p.R437Q; 17:58358466-58358466

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.350delG; p.R117fs*41; 17:58370936-58370936

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1976_1977insG; p.P660fs*87; 17:58357799-58357800

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.2065G>A; p.A689T; 17:58357711-58357711

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.350G>A; p.R117H; 17:58370936-58370936

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.239G>A; p.G80E; 17:58415339-58415339

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1788G>A; p.Q596Q; 17:58357988-58357988

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.867C>A; p.S289S; 17:58360234-58360234

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1214T>C; p.L405P; 17:58358562-58358562

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1682G>A; p.R561Q; 17:58358094-58358094

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.354_355insC; p.C119fs*6; 17:58370931-58370932

large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.461C>T; p.P154L; 17:58363396-58363396

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1585C>T; p.R529W; 17:58358191-58358191

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1416delT; p.H472fs*30; 17:58358360-58358360

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.375G>T; p.K125N; 17:58370911-58370911

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1958A>G; p.Q653R; 17:58357818-58357818

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1047C>T; p.A349A; 17:58358729-58358729

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.343delG; p.A115fs*43; 17:58370943-58370943

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1393G>A; p.D465N; 17:58358383-58358383

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.451-1G>A; p.?; 17:58363407-58363407

large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.896_897delTG; p.V299fs*143; 17:58360204-58360205

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.896_897delTG; p.V299fs*143; 17:58360204-58360205

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.896_897delTG; p.V299fs*143; 17:58360204-58360205

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.896_897delTG; p.V299fs*143; 17:58360204-58360205

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.896_897delTG; p.V299fs*143; 17:58360204-58360205

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1977delT; p.S661fs*39; 17:58357799-58357799

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1977delT; p.S661fs*39; 17:58357799-58357799

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1977delT; p.S661fs*39; 17:58357799-58357799

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1977delT; p.S661fs*39; 17:58357799-58357799

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1977delT; p.S661fs*39; 17:58357799-58357799

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1977delT; p.S661fs*39; 17:58357799-58357799

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1977delT; p.S661fs*39; 17:58357799-58357799

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.149T>C; p.V50A; 17:58415429-58415429

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.77_78insGG; p.R27fs*25; 17:58415500-58415501

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.194delT; p.L65fs*11; 17:58415384-58415384

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1975_1976delGG; p.G659fs*87; 17:58357800-58357801

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1706C>A; p.P569H; 17:58358070-58358070

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.354delC; p.C119fs*39; 17:58370932-58370932

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2254G>A; p.A752T; 17:58357522-58357522

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.987T>A; p.S329S; 17:58358789-58358789

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.248T>C; p.M83T; 17:58415330-58415330

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.505G>A; p.A169T; 17:58363352-58363352

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.505G>A; p.A169T; 17:58363352-58363352

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1970G>A; p.R657Q; 17:58357806-58357806

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.349delC; p.R117fs*41; 17:58370937-58370937

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.349delC; p.R117fs*41; 17:58370937-58370937

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.349delC; p.R117fs*41; 17:58370937-58370937

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.349delC; p.R117fs*41; 17:58370937-58370937

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.349delC; p.R117fs*41; 17:58370937-58370937

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.349delC; p.R117fs*41; 17:58370937-58370937

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.349delC; p.R117fs*41; 17:58370937-58370937

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.349delC; p.R117fs*41; 17:58370937-58370937

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.349delC; p.R117fs*41; 17:58370937-58370937

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.394C>T; p.R132*; 17:58363582-58363582

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.394C>T; p.R132*; 17:58363582-58363582

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1276C>T; p.Q426*; 17:58358500-58358500

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.394C>T; p.R132*; 17:58363582-58363582

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1165C>T; p.R389C; 17:58358611-58358611

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.673delC; p.R225fs*194; 17:58362558-58362558

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.673delC; p.R225fs*194; 17:58362558-58362558

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.353C>A; p.P118H; 17:58370933-58370933

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1976delG; p.G659fs*41; 17:58357800-58357800

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1976delG; p.G659fs*41; 17:58357800-58357800

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1976delG; p.G659fs*41; 17:58357800-58357800

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1976delG; p.G659fs*41; 17:58357800-58357800

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1976delG; p.G659fs*41; 17:58357800-58357800

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1976delG; p.G659fs*41; 17:58357800-58357800

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1976delG; p.G659fs*41; 17:58357800-58357800

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1976delG; p.G659fs*41; 17:58357800-58357800

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1976delG; p.G659fs*41; 17:58357800-58357800

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1976delG; p.G659fs*41; 17:58357800-58357800

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1976delG; p.G659fs*41; 17:58357800-58357800

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1976delG; p.G659fs*41; 17:58357800-58357800

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1976delG; p.G659fs*41; 17:58357800-58357800

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1976delG; p.G659fs*41; 17:58357800-58357800

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1976delG; p.G659fs*41; 17:58357800-58357800

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1976delG; p.G659fs*41; 17:58357800-58357800

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1976delG; p.G659fs*41; 17:58357800-58357800

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1976delG; p.G659fs*41; 17:58357800-58357800

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1976delG; p.G659fs*41; 17:58357800-58357800

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1976delG; p.G659fs*41; 17:58357800-58357800

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1976delG; p.G659fs*41; 17:58357800-58357800

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1976delG; p.G659fs*41; 17:58357800-58357800

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1976delG; p.G659fs*41; 17:58357800-58357800

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1976delG; p.G659fs*41; 17:58357800-58357800

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1976delG; p.G659fs*41; 17:58357800-58357800

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1976delG; p.G659fs*41; 17:58357800-58357800

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1976delG; p.G659fs*41; 17:58357800-58357800

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1976delG; p.G659fs*41; 17:58357800-58357800

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1976delG; p.G659fs*41; 17:58357800-58357800

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1976delG; p.G659fs*41; 17:58357800-58357800

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1976delG; p.G659fs*41; 17:58357800-58357800

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1976delG; p.G659fs*41; 17:58357800-58357800

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1976delG; p.G659fs*41; 17:58357800-58357800

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1976delG; p.G659fs*41; 17:58357800-58357800

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1976delG; p.G659fs*41; 17:58357800-58357800

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1976delG; p.G659fs*41; 17:58357800-58357800

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1976delG; p.G659fs*41; 17:58357800-58357800

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1976delG; p.G659fs*41; 17:58357800-58357800

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1976delG; p.G659fs*41; 17:58357800-58357800

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1976delG; p.G659fs*41; 17:58357800-58357800

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1976delG; p.G659fs*41; 17:58357800-58357800

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.898G>T; p.D300Y; 17:58360203-58360203

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1458_1466delCCTACAGGG; p.S486_G489>R; 17:58358310-58358318

livercarcinomaComplex - deletion inframe

c.1080C>T; p.G360G; 17:58358696-58358696

livercarcinomaSubstitution - coding silent

c.149T>C; p.V50A; 17:58415429-58415429

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1974G>T; p.G658G; 17:58357802-58357802

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1703A>T; p.K568M; 17:58358073-58358073

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1407G>T; p.G469G; 17:58358369-58358369

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.720C>T; p.I240I; 17:58360912-58360912

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.720C>T; p.I240I; 17:58360912-58360912

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2241G>A; p.W747*; 17:58357535-58357535

lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.726G>A; p.Q242Q; 17:58360906-58360906

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2087C>T; p.A696V; 17:58357689-58357689

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2017A>G; p.T673A; 17:58357759-58357759

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.687+1G>C; p.?; 17:58362543-58362543

lungcarcinoma; adenocarcinomaUnknown

c.36C>G; p.L12L; 17:58415542-58415542

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1440C>T; p.V480V; 17:58358336-58358336

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1820C>T; p.S607L; 17:58357956-58357956

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.324G>T; p.K108N; 17:58370962-58370962

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1802C>G; p.S601C; 17:58357974-58357974

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.496G>T; p.G166C; 17:58363361-58363361

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.434G>A; p.R145Q; 17:58363542-58363542

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1171C>T; p.P391S; 17:58358605-58358605

NSmalignant_melanomaSubstitution - Missense

c.1932_1933insA; p.S645fs*102; 17:58357843-58357844

oesophagus; lower_thirdcarcinoma; adenocarcinomaInsertion - Frameshift

c.142A>G; p.I48V; 17:58415436-58415436

oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.433C>T; p.R145*; 17:58363543-58363543

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2058C>T; p.P686P; 17:58357718-58357718

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.1009C>T; p.R337*; 17:58358767-58358767

oesophaguscarcinoma; adenocarcinomaSubstitution - Nonsense

c.1976delG; p.G659fs*41; 17:58357800-58357800

oesophaguscarcinoma; adenocarcinomaDeletion - Frameshift

c.1976delG; p.G659fs*41; 17:58357800-58357800

oesophaguscarcinoma; adenocarcinomaDeletion - Frameshift

c.1976delG; p.G659fs*41; 17:58357800-58357800

oesophagus; lower_thirdcarcinoma; adenocarcinomaDeletion - Frameshift

c.906G>T; p.W302C; 17:58360195-58360195

ovarycarcinomaSubstitution - Missense

c.418G>C; p.D140H; 17:58363558-58363558

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.850G>T; p.E284*; 17:58360251-58360251

ovarycarcinoma; mucinous_carcinomaSubstitution - Nonsense

c.142A>G; p.I48V; 17:58415436-58415436

ovarycarcinoma; mucinous_carcinomaSubstitution - Missense

c.760_760delC; p.Q254fs*165; 17:58360872-58360872

ovarycarcinoma; mucinous_carcinomaDeletion - Frameshift

c.118_118delA; p.R40fs*11; 17:58415460-58415460

ovarycarcinoma; mucinous_carcinomaDeletion - Frameshift

c.352C>A; p.P118T; 17:58370934-58370934

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.16C>T; p.Q6*; 17:58415562-58415562

ovarycarcinoma; mucinous_carcinomaSubstitution - Nonsense

c.583-586delCCAG; p.P195fs*7; 17:58362649-58362649

ovarycarcinoma; mucinous_carcinomaDeletion - Frameshift

c.1392_1393insCAGT; p.D465fs*2; 17:58358383-58358384

ovarycarcinoma; mucinous_carcinomaInsertion - Frameshift

c.856C>T; p.R286W; 17:58360245-58360245

ovarylow_malignant_potential_(borderline)_tumour; mucinousSubstitution - Missense

c.437C>G; p.A146G; 17:58363539-58363539

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.182_183delTG; p.L61fs*13; 17:58415395-58415396

ovarylow_malignant_potential_(borderline)_tumour; mucinousDeletion - Frameshift

c.1009C>T; p.R337*; 17:58358767-58358767

ovarycarcinoma; mucinous_carcinomaSubstitution - Nonsense

c.988C>A; p.R330R; 17:58358788-58358788

pancreascarcinomaSubstitution - coding silent

c.926G>T; p.C309F; 17:58360175-58360175

pancreascarcinomaSubstitution - Missense

c.337C>T; p.R113*; 17:58370949-58370949

pancreasother; adenomaSubstitution - Nonsense

c.477G>A; p.W159*; 17:58363380-58363380

pancreascarcinomaSubstitution - Nonsense

c.649G>A; p.V217M; 17:58362582-58362582

pancreascarcinomaSubstitution - Missense

c.420C>G; p.D140E; 17:58363556-58363556

pancreaspancreatic_intraepithelial_neoplasia_(PanIN)Substitution - Missense

c.454C>T; p.Q152*; 17:58363403-58363403

pancreasother; adenomaSubstitution - Nonsense

c.420C>G; p.D140E; 17:58363556-58363556

pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.497G>T; p.G166V; 17:58363360-58363360

pancreascarcinomaSubstitution - Missense

c.531C>A; p.Y177*; 17:58363326-58363326

pancreasother; adenomaSubstitution - Nonsense

c.122C>G; p.S41*; 17:58415456-58415456

pancreasother; cystic_tumourSubstitution - Nonsense

c.1466_1466delG; p.V490fs*12; 17:58358310-58358310

pancreasother; dysplasia-in_situ_neoplasmDeletion - Frameshift

c.479C>G; p.P160R; 17:58363378-58363378

pancreascarcinomaSubstitution - Missense

c.786_786delA; p.S264fs*155; 17:58360846-58360846

pancreasother; dysplasia-in_situ_neoplasmDeletion - Frameshift

c.520G>T; p.E174*; 17:58363337-58363337

pancreascarcinoma; ductal_carcinomaSubstitution - Nonsense

c.1111C>T; p.R371*; 17:58358665-58358665

pancreasother; cystic_tumourSubstitution - Nonsense

c.1111C>T; p.R371*; 17:58358665-58358665

pancreasother; adenomaSubstitution - Nonsense

c.647C>A; p.S216*; 17:58362584-58362584

pancreasother; adenomaSubstitution - Nonsense

c.204_205delGT; p.F69fs*5; 17:58415373-58415374

pancreasother; dysplasia-in_situ_neoplasmDeletion - Frameshift

c.433C>T; p.R145*; 17:58363543-58363543

pancreascarcinomaSubstitution - Nonsense

c.433C>T; p.R145*; 17:58363543-58363543

pancreasother; adenomaSubstitution - Nonsense

c.433C>T; p.R145*; 17:58363543-58363543

pancreascarcinomaSubstitution - Nonsense

c.989_989delG; p.R330fs*89; 17:58358787-58358787

pancreascarcinoma; ductal_carcinomaDeletion - Frameshift

c.954G>T; p.E318D; 17:58358822-58358822

pancreascarcinomaSubstitution - Missense

c.954G>T; p.E318D; 17:58358822-58358822

pancreascarcinomaSubstitution - Missense

c.272G>C; p.C91S; 17:58371014-58371014

pancreascarcinomaSubstitution - Missense

c.928C>G; p.P310A; 17:58360173-58360173

pancreasother; dysplasia-in_situ_neoplasmSubstitution - Missense

c.1189C>T; p.R397W; 17:58358587-58358587

pancreascarcinomaSubstitution - Missense

c.1087_1087delC; p.R363fs*56; 17:58358689-58358689

pancreasother; dysplasia-in_situ_neoplasmDeletion - Frameshift

c.856C>T; p.R286W; 17:58360245-58360245

pancreascarcinomaSubstitution - Missense

c.22C>T; p.Q8*; 17:58415556-58415556

pancreascarcinomaSubstitution - Nonsense

c.1977delT; p.S661fs*39; 17:58357799-58357799

pancreascarcinoma; acinar_carcinomaDeletion - Frameshift

c.2265G>T; p.R755S; 17:58357511-58357511

pancreascarcinomaSubstitution - Missense

c.49C>A; p.L17M; 17:58415529-58415529

pancreascarcinomaSubstitution - Missense

c.491T>A; p.I164N; 17:58363366-58363366

pancreasother; dysplasia-in_situ_neoplasmSubstitution - Missense

c.505G>A; p.A169T; 17:58363352-58363352

pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.505G>A; p.A169T; 17:58363352-58363352

pancreascarcinomaSubstitution - Missense

c.505G>A; p.A169T; 17:58363352-58363352

pancreasother; adenomaSubstitution - Missense

c.394C>T; p.R132*; 17:58363582-58363582

pancreascarcinomaSubstitution - Nonsense

c.394C>T; p.R132*; 17:58363582-58363582

pancreascarcinomaSubstitution - Nonsense

c.206T>G; p.F69C; 17:58415372-58415372

pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.457C>T; p.Q153*; 17:58363400-58363400

pancreasother; dysplasia-in_situ_neoplasmSubstitution - Nonsense

c.931_932insC; p.L311fs*132; 17:58360169-58360170

pancreasother; dysplasia-in_situ_neoplasmInsertion - Frameshift

c.931_932insC; p.L311fs*132; 17:58360169-58360170

pancreasother; dysplasia-in_situ_neoplasmInsertion - Frameshift

c.380G>C; p.R127P; 17:58363596-58363596

pancreasother; cystic_tumourSubstitution - Missense

c.988C>T; p.R330*; 17:58358788-58358788

pancreascarcinomaSubstitution - Nonsense

c.988C>T; p.R330*; 17:58358788-58358788

pancreascarcinomaSubstitution - Nonsense

c.1948C>T; p.R650*; 17:58357828-58357828

prostatecarcinoma; adenocarcinomaSubstitution - Nonsense

c.2260G>C; p.G754R; 17:58357516-58357516

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.504C>T; p.D168D; 17:58363353-58363353

prostatecarcinomaSubstitution - coding silent

c.2095T>G; p.L699V; 17:58357681-58357681

skinmalignant_melanomaSubstitution - Missense

c.1747C>G; p.P583A; 17:58358029-58358029

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.955G>A; p.G319R; 17:58358821-58358821

skin; extremitymalignant_melanomaSubstitution - Missense

c.689A>T; p.D230V; 17:58360943-58360943

skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2199G>A; p.Q733Q; 17:58357577-58357577

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1633T>C; p.S545P; 17:58358143-58358143

skinmalignant_melanomaSubstitution - Missense

c.1302C>T; p.P434P; 17:58358474-58358474

skinmalignant_melanomaSubstitution - coding silent

c.2173G>T; p.V725L; 17:58357603-58357603

skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1794C>T; p.V598V; 17:58357982-58357982

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1729C>T; p.Q577*; 17:58358047-58358047

skinmalignant_melanomaSubstitution - Nonsense

c.319G>A; p.V107I; 17:58370967-58370967

skinmalignant_melanomaSubstitution - Missense

c.1857C>T; p.L619L; 17:58357919-58357919

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1687C>T; p.Q563*; 17:58358089-58358089

skinmalignant_melanomaSubstitution - Nonsense

c.1419C>T; p.G473G; 17:58358357-58358357

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1419C>T; p.G473G; 17:58358357-58358357

skinmalignant_melanomaSubstitution - coding silent

c.603C>T; p.I201I; 17:58362628-58362628

skin; armmalignant_melanomaSubstitution - coding silent

c.1546G>A; p.D516N; 17:58358230-58358230

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.380G>A; p.R127Q; 17:58363596-58363596

skinmalignant_melanomaSubstitution - Missense

c.2232T>A; p.P744P; 17:58357544-58357544

skinmalignant_melanomaSubstitution - coding silent

c.1122C>T; p.P374P; 17:58358654-58358654

skinmalignant_melanomaSubstitution - coding silent

c.901C>T; p.P301S; 17:58360200-58360200

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2325C>T; p.L775L; 17:58354970-58354970

skinmalignant_melanomaSubstitution - coding silent

c.992C>T; p.S331F; 17:58358784-58358784

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1320C>T; p.P440P; 17:58358456-58358456

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1660C>G; p.R554G; 17:58358116-58358116

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.857G>A; p.R286Q; 17:58360244-58360244

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.245T>C; p.L82S; 17:58415333-58415333

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.245T>C; p.L82S; 17:58415333-58415333

stomachadenocarcinomaSubstitution - Missense

c.477G>A; p.W159*; 17:58363380-58363380

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Nonsense

c.581G>A; p.W194*; 17:58363276-58363276

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Nonsense

c.684G>A; p.R228R; 17:58362547-58362547

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1410_1411delCT; p.C471fs*6; 17:58358365-58358366

stomachcarcinoma; adenocarcinomaDeletion - Frameshift

c.1085_1086insT; p.R363fs*80; 17:58358690-58358691

stomachcarcinoma; intestinal_adenocarcinomaInsertion - Frameshift

c.367G>C; p.A123P; 17:58370919-58370919

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1547A>G; p.D516G; 17:58358229-58358229

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.947T>C; p.I316T; 17:58360154-58360154

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2280G>A; p.P760P; 17:58357496-58357496

stomachadenocarcinomaSubstitution - coding silent

c.257A>G; p.H86R; 17:58371029-58371029

stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.829G>T; p.E277*; 17:58360803-58360803

stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.914A>G; p.Q305R; 17:58360187-58360187

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.261_262insC; p.L88fs*8; 17:58371024-58371025

stomachcarcinoma; intestinal_adenocarcinomaInsertion - Frameshift

c.656G>A; p.R219H; 17:58362575-58362575

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.760C>T; p.Q254*; 17:58360872-58360872

stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2102G>A; p.C701Y; 17:58357674-58357674

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1428T>C; p.S476S; 17:58358348-58358348

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1371C>A; p.Y457*; 17:58358405-58358405

stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1977delT; p.S661fs*39; 17:58357799-58357799

stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.394C>T; p.R132*; 17:58363582-58363582

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Nonsense

c.256C>T; p.H86Y; 17:58371030-58371030

stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.256C>T; p.H86Y; 17:58371030-58371030

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.864_885del22; p.S289fs*123; 17:58360216-58360237

stomachcarcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiableDeletion - Frameshift

c.503A>T; p.D168V; 17:58363354-58363354

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.988C>T; p.R330*; 17:58358788-58358788

stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1976delG; p.G659fs*41; 17:58357800-58357800

stomachadenocarcinomaDeletion - Frameshift

c.1976delG; p.G659fs*41; 17:58357800-58357800

stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.1976delG; p.G659fs*41; 17:58357800-58357800

stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.1976delG; p.G659fs*41; 17:58357800-58357800

stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.1252C>A; p.L418M; 17:58358524-58358524

thyroidother; neoplasmSubstitution - Missense

c.1181C>T; p.A394V; 17:58358595-58358595

urinary_tract; bladdercarcinomaSubstitution - Missense

c.121T>A; p.S41T; 17:58415457-58415457

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.121T>A; p.S41T; 17:58415457-58415457

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1435G>T; p.V479L; 17:58358341-58358341

urinary_tract; bladdercarcinomaSubstitution - Missense