Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

1612

Name

DAPK1

Synonymous

death-associated protein kinase 1;DAPK1;death-associated protein kinase 1

Definition

DAP kinase 1

Position

9q21.33

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

Top

We used uniprot protein structure data from ensemble BioMart database. The size of circle shows the relative mutation number.

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

Top

The non-synonymous mutational pattern in 17 major cancer types.
The synonymous mutational pattern in 17 major cancer types.

Loss of Function mutations compare to missense mutations

Top

Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.09.

The copy number variations for various cancers

Top

The copy number variations in 17 major cancer groups: 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; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

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

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.2540A>T; p.E847V; 9:87697133-87697133

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.2540A>T; p.E847V; 9:87697133-87697133

large_intestine; colonadenomaSubstitution - Missense

c.3664G>T; p.V1222F; 9:87706735-87706735

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.3421C>T; p.P1141S; 9:87706492-87706492

skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3542C>T; p.A1181V; 9:87706613-87706613

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3815_3816insG; p.Y1275fs*64; 9:87706886-87706887

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.3815_3816insG; p.Y1275fs*64; 9:87706886-87706887

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.240C>T; p.H80H; 9:87605131-87605131

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2854C>T; p.R952*; 9:87700220-87700220

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.240C>T; p.H80H; 9:87605131-87605131

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1968G>C; p.E656D; 9:87668641-87668641

urinary_tract; bladdercarcinomaSubstitution - Missense

c.3561G>T; p.L1187L; 9:87706632-87706632

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.4000T>C; p.L1334L; 9:87707071-87707071

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2159G>A; p.R720Q; 9:87681561-87681561

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2189G>A; p.R730K; 9:87681591-87681591

skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2319G>A; p.M773I; 9:87686645-87686645

central_nervous_system; braingliomaSubstitution - Missense

c.1486G>T; p.A496S; 9:87649978-87649978

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2703G>A; p.E901E; 9:87698747-87698747

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.3864C>T; p.H1288H; 9:87706935-87706935

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.760A>C; p.R254R; 9:87640428-87640428

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2611+3G>T; p.?; 9:87697207-87697207

livercarcinomaUnknown

c.3385G>A; p.V1129M; 9:87706456-87706456

large_intestine; colonadenomaSubstitution - Missense

c.1573G>A; p.D525N; 9:87650065-87650065

endometriumcarcinoma; serous_carcinomaSubstitution - Missense

c.1573G>A; p.D525N; 9:87650065-87650065

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1573G>A; p.D525N; 9:87650065-87650065

prostatecarcinomaSubstitution - Missense

c.1192C>G; p.L398V; 9:87646521-87646521

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.3274G>A; p.A1092T; 9:87706345-87706345

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1291C>G; p.L431V; 9:87647365-87647365

urinary_tract; bladdercarcinomaSubstitution - Missense

c.906_907insA; p.W305fs*23; 9:87642046-87642047

large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.2088G>A; p.S696S; 9:87681490-87681490

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.4252G>A; p.G1418S; 9:87707323-87707323

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2301G>A; p.P767P; 9:87686627-87686627

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1560C>T; p.A520A; 9:87650052-87650052

kidneyother; neoplasmSubstitution - coding silent

c.2834G>A; p.R945Q; 9:87700200-87700200

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1936G>A; p.A646T; 9:87668609-87668609

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3534C>T; p.N1178N; 9:87706605-87706605

skinmalignant_melanomaSubstitution - coding silent

c.2834G>A; p.R945Q; 9:87700200-87700200

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.120C>A; p.A40A; 9:87605011-87605011

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.919-8A>T; p.?; 9:87643368-87643368

livercarcinomaUnknown

c.3645G>A; p.V1215V; 9:87706716-87706716

skinmalignant_melanomaSubstitution - coding silent

c.696C>T; p.V232V; 9:87640364-87640364

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2665G>A; p.A889T; 9:87698709-87698709

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3210G>A; p.Q1070Q; 9:87706281-87706281

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.4164C>A; p.A1388A; 9:87707235-87707235

livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.3741G>A; p.E1247E; 9:87706812-87706812

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.461A>C; p.K154T; 9:87639391-87639391

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3003C>T; p.P1001P; 9:87703160-87703160

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2491G>A; p.D831N; 9:87697084-87697084

breastcarcinomaSubstitution - Missense

c.130A>G; p.I44V; 9:87605021-87605021

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.4017C>T; p.L1339L; 9:87707088-87707088

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.130A>G; p.I44V; 9:87605021-87605021

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3687G>T; p.G1229G; 9:87706758-87706758

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.2161C>T; p.P721S; 9:87681563-87681563

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1521G>T; p.K507N; 9:87650013-87650013

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2161C>T; p.P721S; 9:87681563-87681563

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2586C>T; p.S862S; 9:87697179-87697179

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.3446A>G; p.Q1149R; 9:87706517-87706517

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.3446A>G; p.Q1149R; 9:87706517-87706517

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.425C>A; p.P142H; 9:87639355-87639355

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3928C>T; p.R1310W; 9:87706999-87706999

breastcarcinomaSubstitution - Missense

c.1935G>A; p.T645T; 9:87668608-87668608

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.294T>A; p.G98G; 9:87637952-87637952

breastcarcinomaSubstitution - coding silent

c.2580G>T; p.L860L; 9:87697173-87697173

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.3130G>A; p.V1044I; 9:87706201-87706201

pancreascarcinomaSubstitution - Missense

c.2031G>T; p.Q677H; 9:87681433-87681433

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3138G>A; p.G1046G; 9:87706209-87706209

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1704T>C; p.C568C; 9:87651604-87651604

oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2839C>A; p.H947N; 9:87700205-87700205

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.4059C>T; p.F1353F; 9:87707130-87707130

skinmalignant_melanomaSubstitution - coding silent

c.1707C>T; p.F569F; 9:87651607-87651607

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1842G>A; p.L614L; 9:87658046-87658046

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1842G>A; p.L614L; 9:87658046-87658046

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.3341G>A; p.R1114H; 9:87706412-87706412

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2453C>T; p.P818L; 9:87697046-87697046

skinmalignant_melanomaSubstitution - Missense

c.2577C>T; p.F859F; 9:87697170-87697170

skinmalignant_melanomaSubstitution - coding silent

c.2332G>T; p.V778L; 9:87686658-87686658

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3454C>T; p.L1152L; 9:87706525-87706525

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.928C>T; p.R310C; 9:87643385-87643385

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2199T>A; p.P733P; 9:87681601-87681601

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.3069C>T; p.I1023I; 9:87706140-87706140

breastcarcinoma; lobular_carcinomaSubstitution - coding silent

c.3069C>T; p.I1023I; 9:87706140-87706140

breastcarcinoma; lobular_carcinomaSubstitution - coding silent

c.928C>T; p.R310C; 9:87643385-87643385

skinmalignant_melanomaSubstitution - Missense

c.3253C>A; p.L1085I; 9:87706324-87706324

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2220C>T; p.P740P; 9:87681622-87681622

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.13A>G; p.R5G; 9:87499090-87499090

breastcarcinomaSubstitution - Missense

c.2340G>A; p.P780P; 9:87686666-87686666

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.173G>A; p.R58H; 9:87605064-87605064

oesophaguscarcinomaSubstitution - Missense

c.1244_1245CC>TT; p.A415V; 9:87647318-87647319

skinmalignant_melanomaSubstitution - Missense

c.1599T>C; p.H533H; 9:87650091-87650091

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1244_1245CC>TT; p.A415V; 9:87647318-87647319

skinmalignant_melanomaSubstitution - Missense

c.173G>A; p.R58H; 9:87605064-87605064

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1025C>T; p.S342F; 9:87645908-87645908

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1025C>T; p.S342F; 9:87645908-87645908

urinary_tract; bladdercarcinomaSubstitution - Missense

c.265G>A; p.V89I; 9:87605156-87605156

breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.1525C>A; p.R509R; 9:87650017-87650017

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.370C>T; p.L124F; 9:87638028-87638028

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2430C>T; p.S810S; 9:87697023-87697023

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.273G>T; p.L91L; 9:87605164-87605164

breastcarcinomaSubstitution - coding silent

c.2288T>C; p.M763T; 9:87686614-87686614

breastcarcinomaSubstitution - Missense

c.276C>T; p.I92I; 9:87605167-87605167

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1743C>T; p.L581L; 9:87651643-87651643

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.172C>T; p.R58C; 9:87605063-87605063

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.919-9A>T; p.?; 9:87643367-87643367

livercarcinomaUnknown

c.919-9A>T; p.?; 9:87643367-87643367

livercarcinomaUnknown

c.1711G>A; p.D571N; 9:87651611-87651611

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.925G>A; p.V309I; 9:87643382-87643382

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3442G>T; p.V1148F; 9:87706513-87706513

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.714T>C; p.D238D; 9:87640382-87640382

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1231G>T; p.G411C; 9:87647305-87647305

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.286G>A; p.V96I; 9:87637944-87637944

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.286G>A; p.V96I; 9:87637944-87637944

bone; pelvisEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.894G>A; p.K298K; 9:87642034-87642034

prostatecarcinomaSubstitution - coding silent

c.1772C>T; p.P591L; 9:87651672-87651672

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.4098C>T; p.T1366T; 9:87707169-87707169

skinmalignant_melanomaSubstitution - coding silent

c.2883C>T; p.P961P; 9:87703040-87703040

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.923C>T; p.S308F; 9:87643380-87643380

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3187C>T; p.R1063C; 9:87706258-87706258

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.640G>A; p.A214T; 9:87640308-87640308

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.3420C>T; p.F1140F; 9:87706491-87706491

skinmalignant_melanomaSubstitution - coding silent

c.3187C>T; p.R1063C; 9:87706258-87706258

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2833_2834CG>TA; p.R945*; 9:87700199-87700200

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.3287G>A; p.S1096N; 9:87706358-87706358

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3597C>T; p.R1199R; 9:87706668-87706668

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2455G>T; p.V819L; 9:87697048-87697048

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.3597C>T; p.R1199R; 9:87706668-87706668

thyroidother; neoplasmSubstitution - coding silent

c.1746T>A; p.H582Q; 9:87651646-87651646

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1934C>T; p.T645M; 9:87668607-87668607

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.59G>A; p.G20D; 9:87499136-87499136

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.553G>A; p.A185T; 9:87639483-87639483

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.59G>A; p.G20D; 9:87499136-87499136

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.118G>A; p.A40T; 9:87605009-87605009

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2833C>T; p.R945*; 9:87700199-87700199

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2833C>T; p.R945*; 9:87700199-87700199

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.4174T>A; p.L1392M; 9:87707245-87707245

breastcarcinomaSubstitution - Missense

c.1574A>G; p.D525G; 9:87650066-87650066

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3393C>T; p.I1131I; 9:87706464-87706464

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.4037G>A; p.S1346N; 9:87707108-87707108

thyroidother; neoplasmSubstitution - Missense

c.3711G>A; p.L1237L; 9:87706782-87706782

breastcarcinomaSubstitution - coding silent

c.4037G>A; p.S1346N; 9:87707108-87707108

thyroidother; neoplasmSubstitution - Missense

c.868G>C; p.A290P; 9:87642008-87642008

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2727G>A; p.S909S; 9:87698771-87698771

oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.4220G>A; p.G1407D; 9:87707291-87707291

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.4238C>T; p.S1413L; 9:87707309-87707309

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2727G>A; p.S909S; 9:87698771-87698771

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.3489C>T; p.G1163G; 9:87706560-87706560

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3489C>T; p.G1163G; 9:87706560-87706560

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.3489C>T; p.G1163G; 9:87706560-87706560

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2266G>A; p.V756M; 9:87686592-87686592

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2090G>A; p.G697E; 9:87681492-87681492

urinary_tract; bladdercarcinomaSubstitution - Missense

c.405C>T; p.I135I; 9:87638063-87638063

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.3674C>T; p.T1225I; 9:87706745-87706745

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3771C>A; p.F1257L; 9:87706842-87706842

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1289T>A; p.F430Y; 9:87647363-87647363

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.3151G>A; p.V1051M; 9:87706222-87706222

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3466A>T; p.I1156F; 9:87706537-87706537

breastcarcinomaSubstitution - Missense

c.132C>G; p.I44M; 9:87605023-87605023

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.982A>G; p.M328V; 9:87643439-87643439

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.4042G>T; p.G1348W; 9:87707113-87707113

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2499G>T; p.T833T; 9:87697092-87697092

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.157C>T; p.R53W; 9:87605048-87605048

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.338A>T; p.E113V; 9:87637996-87637996

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3444C>A; p.V1148V; 9:87706515-87706515

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2543T>C; p.I848T; 9:87697136-87697136

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2544C>T; p.I848I; 9:87697137-87697137

ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.3600C>G; p.G1200G; 9:87706671-87706671

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.92G>A; p.R31H; 9:87604983-87604983

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.92G>A; p.R31H; 9:87604983-87604983

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.96G>T; p.E32D; 9:87604987-87604987

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.814C>T; p.H272Y; 9:87640833-87640833

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3389G>A; p.R1130H; 9:87706460-87706460

haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.814C>T; p.H272Y; 9:87640833-87640833

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.754A>C; p.I252L; 9:87640422-87640422

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.814C>T; p.H272Y; 9:87640833-87640833

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.4148T>C; p.L1383P; 9:87707219-87707219

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1302delC; p.N434fs*7; 9:87647376-87647376

lungcarcinoma; adenocarcinomaDeletion - Frameshift

c.46G>C; p.G16R; 9:87499123-87499123

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.866C>G; p.S289*; 9:87642006-87642006

breastcarcinomaSubstitution - Nonsense

c.2402C>T; p.A801V; 9:87686728-87686728

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.3847A>G; p.M1283V; 9:87706918-87706918

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1997G>A; p.R666Q; 9:87668670-87668670

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.539C>T; p.T180I; 9:87639469-87639469

skinmalignant_melanomaSubstitution - Missense

c.1345C>A; p.L449I; 9:87648796-87648796

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2876G>C; p.C959S; 9:87703033-87703033

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2876G>C; p.C959S; 9:87703033-87703033

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2876G>C; p.C959S; 9:87703033-87703033

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2876G>C; p.C959S; 9:87703033-87703033

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2876G>C; p.C959S; 9:87703033-87703033

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.340G>A; p.E114K; 9:87637998-87637998

urinary_tract; bladdercarcinomaSubstitution - Missense

c.356_374del19; p.F119fs*21; 9:87638014-87638032

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaDeletion - Frameshift

c.3798C>A; p.T1266T; 9:87706869-87706869

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3583G>C; p.E1195Q; 9:87706654-87706654

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.4164C>T; p.A1388A; 9:87707235-87707235

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.748G>T; p.D250Y; 9:87640416-87640416

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.640G>C; p.A214P; 9:87640308-87640308

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1044C>T; p.I348I; 9:87645927-87645927

stomachadenocarcinomaSubstitution - coding silent

c.3012C>T; p.S1004S; 9:87703169-87703169

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - coding silent

c.1330-2A>T; p.?; 9:87648779-87648779

lungcarcinoma; adenocarcinomaUnknown

c.2571C>G; p.L857L; 9:87697164-87697164

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.3666C>T; p.V1222V; 9:87706737-87706737

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1538C>T; p.T513M; 9:87650030-87650030

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2388C>T; p.I796I; 9:87686714-87686714

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.120C>T; p.A40A; 9:87605011-87605011

breastcarcinomaSubstitution - coding silent

c.3815_3816insGG; p.Y1275fs*32; 9:87706886-87706887

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1966G>A; p.E656K; 9:87668639-87668639

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.3133C>A; p.L1045M; 9:87706204-87706204

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.879G>A; p.M293I; 9:87642019-87642019

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.444G>C; p.L148F; 9:87639374-87639374

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1556C>T; p.S519F; 9:87650048-87650048

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1556C>T; p.S519F; 9:87650048-87650048

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.836A>T; p.D279V; 9:87641976-87641976

livercarcinomaSubstitution - Missense

c.4111A>T; p.S1371C; 9:87707182-87707182

livercarcinomaSubstitution - Missense

c.2960C>T; p.S987L; 9:87703117-87703117

skinmalignant_melanomaSubstitution - Missense

c.365A>T; p.Q122L; 9:87638023-87638023

breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.3990C>T; p.L1330L; 9:87707061-87707061

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1521G>A; p.K507K; 9:87650013-87650013

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1444C>T; p.L482L; 9:87649936-87649936

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1151T>C; p.L384P; 9:87646480-87646480

oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2518T>C; p.F840L; 9:87697111-87697111

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.818C>G; p.P273R; 9:87640837-87640837

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.4227G>T; p.E1409D; 9:87707298-87707298

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3486G>T; p.E1162D; 9:87706557-87706557

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2116T>A; p.S706T; 9:87681518-87681518

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1738C>T; p.P580S; 9:87651638-87651638

skinmalignant_melanomaSubstitution - Missense

c.1429G>A; p.E477K; 9:87649921-87649921

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1738C>T; p.P580S; 9:87651638-87651638

skinmalignant_melanomaSubstitution - Missense

c.2116T>A; p.S706T; 9:87681518-87681518

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.592G>A; p.A198T; 9:87639688-87639688

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1480G>A; p.A494T; 9:87649972-87649972

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2294T>C; p.F765S; 9:87686620-87686620

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.3521G>A; p.C1174Y; 9:87706592-87706592

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2542A>G; p.I848V; 9:87697135-87697135

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2214T>A; p.S738S; 9:87681616-87681616

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2214T>A; p.S738S; 9:87681616-87681616

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2542A>G; p.I848V; 9:87697135-87697135

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2542A>G; p.I848V; 9:87697135-87697135

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.3176A>G; p.H1059R; 9:87706247-87706247

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3543C>T; p.A1181A; 9:87706614-87706614

oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.3744C>T; p.P1248P; 9:87706815-87706815

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.3816delG; p.Y1275fs*31; 9:87706887-87706887

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.3816delG; p.Y1275fs*31; 9:87706887-87706887

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.3816delG; p.Y1275fs*31; 9:87706887-87706887

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.3816delG; p.Y1275fs*31; 9:87706887-87706887

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.3678G>A; p.T1226T; 9:87706749-87706749

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3865G>A; p.D1289N; 9:87706936-87706936

skin; trunkmalignant_melanomaSubstitution - Missense

c.2314G>A; p.G772R; 9:87686640-87686640

skinmalignant_melanomaSubstitution - Missense

c.3897C>A; p.D1299E; 9:87706968-87706968

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.3093C>T; p.D1031D; 9:87706164-87706164

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.401A>G; p.Q134R; 9:87638059-87638059

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3924C>T; p.L1308L; 9:87706995-87706995

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2035C>T; p.R679*; 9:87681437-87681437

thyroidcarcinomaSubstitution - Nonsense

c.1351G>A; p.V451M; 9:87648802-87648802

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3524A>T; p.K1175M; 9:87706595-87706595

livercarcinomaSubstitution - Missense

c.1351G>A; p.V451M; 9:87648802-87648802

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3408C>G; p.H1136Q; 9:87706479-87706479

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.297C>T; p.G99G; 9:87637955-87637955

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.3524A>T; p.K1175M; 9:87706595-87706595

livercarcinomaSubstitution - Missense

c.1351G>A; p.V451M; 9:87648802-87648802

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2352G>A; p.P784P; 9:87686678-87686678

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.548T>G; p.F183C; 9:87639478-87639478

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1275C>T; p.V425V; 9:87647349-87647349

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.950G>T; p.R317I; 9:87643407-87643407

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.811C>T; p.Q271*; 9:87640830-87640830

pancreascarcinomaSubstitution - Nonsense

c.388C>T; p.L130L; 9:87638046-87638046

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.312C>T; p.F104F; 9:87637970-87637970

prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.553+9C>G; p.?; 9:87639492-87639492

lungcarcinoma; squamous_cell_carcinomaUnknown

c.2098delA; p.T701fs*4; 9:87681500-87681500

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1500C>T; p.A500A; 9:87649992-87649992

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2664C>T; p.H888H; 9:87698708-87698708

pancreascarcinomaSubstitution - coding silent

c.356T>G; p.F119C; 9:87638014-87638014

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.356T>G; p.F119C; 9:87638014-87638014

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1593C>T; p.A531A; 9:87650085-87650085

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.356T>G; p.F119C; 9:87638014-87638014

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.356T>G; p.F119C; 9:87638014-87638014

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.356T>G; p.F119C; 9:87638014-87638014

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.356T>G; p.F119C; 9:87638014-87638014

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.356T>G; p.F119C; 9:87638014-87638014

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.356T>G; p.F119C; 9:87638014-87638014

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.356T>G; p.F119C; 9:87638014-87638014

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1593C>T; p.A531A; 9:87650085-87650085

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.4106C>A; p.P1369H; 9:87707177-87707177

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3481A>G; p.T1161A; 9:87706552-87706552

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.904C>T; p.R302W; 9:87642044-87642044

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1360C>T; p.R454C; 9:87648811-87648811

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1360C>T; p.R454C; 9:87648811-87648811

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1235G>T; p.G412V; 9:87647309-87647309

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1360C>T; p.R454C; 9:87648811-87648811

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1360C>T; p.R454C; 9:87648811-87648811

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.3349G>T; p.A1117S; 9:87706420-87706420

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.3678G>T; p.T1226T; 9:87706749-87706749

lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.2750+8G>T; p.?; 9:87698802-87698802

stomachcarcinoma; adenocarcinomaUnknown

c.1170G>T; p.G390G; 9:87646499-87646499

pancreascarcinomaSubstitution - coding silent

c.393C>T; p.H131H; 9:87638051-87638051

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.735T>C; p.S245S; 9:87640403-87640403

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2198C>T; p.P733L; 9:87681600-87681600

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1208C>T; p.S403L; 9:87646537-87646537

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1608C>T; p.D536D; 9:87650100-87650100

livercarcinomaSubstitution - coding silent

c.1608C>T; p.D536D; 9:87650100-87650100

livercarcinomaSubstitution - coding silent

c.3150C>T; p.S1050S; 9:87706221-87706221

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1042A>G; p.I348V; 9:87645925-87645925

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.2437G>A; p.E813K; 9:87697030-87697030

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.75G>A; p.A25A; 9:87604966-87604966

pancreascarcinomaSubstitution - coding silent

c.3835T>G; p.F1279V; 9:87706906-87706906

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1320G>T; p.V440V; 9:87647394-87647394

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.2121C>G; p.L707L; 9:87681523-87681523

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.3595C>T; p.R1199C; 9:87706666-87706666

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2798C>T; p.A933V; 9:87700164-87700164

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2290A>G; p.M764V; 9:87686616-87686616

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.227T>C; p.V76A; 9:87605118-87605118

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.227T>C; p.V76A; 9:87605118-87605118

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3363C>T; p.D1121D; 9:87706434-87706434

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.609C>T; p.I203I; 9:87639795-87639795

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1708G>A; p.V570I; 9:87651608-87651608

breastcarcinomaSubstitution - Missense

c.3132C>T; p.V1044V; 9:87706203-87706203

skinmalignant_melanomaSubstitution - coding silent

c.1401C>T; p.F467F; 9:87648852-87648852

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.3140A>C; p.K1047T; 9:87706211-87706211

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.1861G>A; p.G621R; 9:87658065-87658065

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.703G>A; p.E235K; 9:87640371-87640371

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3775C>T; p.R1259W; 9:87706846-87706846

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3775C>T; p.R1259W; 9:87706846-87706846

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.3211C>T; p.R1071C; 9:87706282-87706282

pancreascarcinomaSubstitution - Missense

c.786G>C; p.K262N; 9:87640805-87640805

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense


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