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

Basic Information

Gene ID

23189

Name

KANK1

Synonymous

KN motif and ankyrin repeat domains 1;KANK1;KN motif and ankyrin repeat domains 1

Definition

KN motif and ankyrin repeat domain-containing protein 1|ankyrin repeat domain-containing protein 15|kidney ankyrin repeat-containing protein

Position

9p24.3

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 0.12.

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.2559C>T; p.S853S; 9:732405-732405

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.2082C>T; p.F694F; 9:713322-713322

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1827C>A; p.N609K; 9:713067-713067

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3142G>A; p.A1048T; 9:740854-740854

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.3142G>A; p.A1048T; 9:740854-740854

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2047C>A; p.L683M; 9:713287-713287

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1584C>G; p.T528T; 9:712824-712824

 breastcarcinomaSubstitution - coding silent

c.3533G>T; p.R1178M; 9:745183-745183

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.455C>T; p.A152V; 9:711695-711695

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3248C>T; p.A1083V; 9:742230-742230

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.370C>T; p.R124*; 9:711610-711610

 autonomic_ganglianeuroblastomaSubstitution - Nonsense

c.742G>A; p.E248K; 9:711982-711982

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2565A>T; p.S855S; 9:732411-732411

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.370C>T; p.R124*; 9:711610-711610

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.3513C>A; p.A1171A; 9:744580-744580

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.848_849insA; p.E284fs*9; 9:712088-712089

 livercarcinomaInsertion - Frameshift

c.2308G>C; p.E770Q; 9:730134-730134

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.3223-3T>C; p.?; 9:742202-742202

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; Burkitt_lymphomaUnknown

c.434C>T; p.S145L; 9:711674-711674

 breastcarcinomaSubstitution - Missense

c.631C>T; p.Q211*; 9:711871-711871

 oesophaguscarcinoma; adenocarcinomaSubstitution - Nonsense

c.3103A>G; p.N1035D; 9:740815-740815

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1107C>T; p.V369V; 9:712347-712347

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3497T>C; p.V1166A; 9:744564-744564

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3189C>T; p.F1063F; 9:740901-740901

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.3189C>T; p.F1063F; 9:740901-740901

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1589C>T; p.T530M; 9:712829-712829

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1953G>A; p.E651E; 9:713193-713193

 central_nervous_system; braingliomaSubstitution - coding silent

c.3049T>G; p.F1017V; 9:738474-738474

 bone; femurEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.2690T>C; p.I897T; 9:732536-732536

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.3034G>A; p.V1012M; 9:738459-738459

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1481C>G; p.T494S; 9:712721-712721

 kidneyother; neoplasmSubstitution - Missense

c.1201G>C; p.V401L; 9:712441-712441

 pancreascarcinoid-endocrine_tumour; islet_cellSubstitution - Missense

c.3522+1G>T; p.?; 9:744590-744590

 kidneycarcinoma; clear_cell_renal_cell_carcinomaUnknown

c.498T>C; p.Y166Y; 9:711738-711738

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.937C>T; p.R313C; 9:712177-712177

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1208G>C; p.G403A; 9:712448-712448

 ovaryother; neoplasmSubstitution - Missense

c.317G>A; p.R106H; 9:711557-711557

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1582A>G; p.T528A; 9:712822-712822

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3423+1G>A; p.?; 9:742406-742406

 stomachcarcinoma; adenocarcinomaUnknown

c.1074G>T; p.V358V; 9:712314-712314

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.1678G>A; p.A560T; 9:712918-712918

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.809G>T; p.G270V; 9:712049-712049

 kidneyother; neoplasmSubstitution - Missense

c.3570_3571insG; p.S1192fs*3; 9:745220-745221

 livercarcinoma; hepatocellular_carcinomaInsertion - Frameshift

c.3351C>T; p.S1117S; 9:742333-742333

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.291G>A; p.V97V; 9:711531-711531

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.886G>C; p.E296Q; 9:712126-712126

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3292T>C; p.C1098R; 9:742274-742274

 pancreascarcinomaSubstitution - Missense

c.886G>C; p.E296Q; 9:712126-712126

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.316C>T; p.R106C; 9:711556-711556

 prostatecarcinomaSubstitution - Missense

c.2299C>T; p.P767S; 9:730125-730125

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.557A>G; p.E186G; 9:711797-711797

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.557A>G; p.E186G; 9:711797-711797

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.632A>G; p.Q211R; 9:711872-711872

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1765G>T; p.G589W; 9:713005-713005

 livercarcinomaSubstitution - Missense

c.3387G>A; p.L1129L; 9:742369-742369

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2348A>G; p.D783G; 9:730174-730174

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3549G>A; p.T1183T; 9:745199-745199

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2012G>A; p.R671H; 9:713252-713252

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.3065T>A; p.L1022Q; 9:738490-738490

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2012G>A; p.R671H; 9:713252-713252

 stomachadenocarcinomaSubstitution - Missense

c.1915G>A; p.V639M; 9:713155-713155

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.34G>A; p.A12T; 9:711274-711274

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1412G>A; p.G471D; 9:712652-712652

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2655T>C; p.T885T; 9:732501-732501

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1337G>A; p.S446N; 9:712577-712577

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.10C>A; p.R4R; 9:711250-711250

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.3451C>T; p.L1151L; 9:744518-744518

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2228A>G; p.N743S; 9:730054-730054

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1461C>T; p.C487C; 9:712701-712701

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2228A>G; p.N743S; 9:730054-730054

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1794C>A; p.T598T; 9:713034-713034

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1360G>T; p.D454Y; 9:712600-712600

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1936G>C; p.V646L; 9:713176-713176

 livercarcinomaSubstitution - Missense

c.1936G>C; p.V646L; 9:713176-713176

 livercarcinomaSubstitution - Missense

c.2758G>A; p.E920K; 9:732604-732604

 breastcarcinomaSubstitution - Missense

c.3134C>A; p.A1045E; 9:740846-740846

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1326C>T; p.C442C; 9:712566-712566

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.525A>G; p.E175E; 9:711765-711765

 parathyroidadenomaSubstitution - coding silent

c.1365C>T; p.L455L; 9:712605-712605

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.820G>C; p.E274Q; 9:712060-712060

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.820G>C; p.E274Q; 9:712060-712060

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1413T>C; p.G471G; 9:712653-712653

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2346G>A; p.L782L; 9:730172-730172

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.361G>A; p.E121K; 9:711601-711601

 oesophaguscarcinomaSubstitution - Missense

c.2282G>T; p.S761I; 9:730108-730108

 breastcarcinomaSubstitution - Missense

c.88G>A; p.G30R; 9:711328-711328

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3047A>C; p.N1016T; 9:738472-738472

 eye; uveal_tractmalignant_melanoma; mixedSubstitution - Missense

c.1214A>T; p.E405V; 9:712454-712454

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.741C>G; p.A247A; 9:711981-711981

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.2561G>T; p.S854I; 9:732407-732407

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.3145G>C; p.A1049P; 9:740857-740857

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3575C>T; p.S1192L; 9:745225-745225

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3321C>T; p.D1107D; 9:742303-742303

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.3141C>T; p.L1047L; 9:740853-740853

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1045G>A; p.A349T; 9:712285-712285

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1003C>T; p.Q335*; 9:712243-712243

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1203C>T; p.V401V; 9:712443-712443

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1203C>T; p.V401V; 9:712443-712443

 breastcarcinomaSubstitution - coding silent

c.22G>A; p.E8K; 9:711262-711262

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.3085T>C; p.C1029R; 9:740797-740797

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3490G>T; p.A1164S; 9:744557-744557

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3474C>T; p.I1158I; 9:744541-744541

 pancreascarcinomaSubstitution - coding silent

c.1154_1157delAAAC; p.N387fs*2; 9:712394-712397

 endometriumcarcinoma; endometrioid_carcinomaDeletion - Frameshift

c.762C>T; p.I254I; 9:712002-712002

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1899A>G; p.T633T; 9:713139-713139

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1411G>A; p.G471S; 9:712651-712651

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.655C>G; p.L219V; 9:711895-711895

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1411G>A; p.G471S; 9:712651-712651

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1195A>T; p.N399Y; 9:712435-712435

 skinmalignant_melanomaSubstitution - Missense

c.2879T>C; p.L960P; 9:738304-738304

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2879T>C; p.L960P; 9:738304-738304

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.964A>T; p.T322S; 9:712204-712204

 breastcarcinomaSubstitution - Missense

c.2050G>A; p.A684T; 9:713290-713290

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1359C>T; p.N453N; 9:712599-712599

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1811G>A; p.G604E; 9:713051-713051

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1359C>T; p.N453N; 9:712599-712599

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.1359C>T; p.N453N; 9:712599-712599

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2606T>G; p.V869G; 9:732452-732452

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3169C>T; p.R1057W; 9:740881-740881

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.288C>T; p.N96N; 9:711528-711528

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.3553C>T; p.P1185S; 9:745203-745203

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.3262C>T; p.R1088W; 9:742244-742244

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2656C>T; p.R886W; 9:732502-732502

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3262C>T; p.R1088W; 9:742244-742244

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3443C>G; p.S1148*; 9:744510-744510

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1367C>A; p.T456K; 9:712607-712607

 ovaryother; neoplasmSubstitution - Missense

c.2072C>A; p.A691E; 9:713312-713312

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1636G>A; p.D546N; 9:712876-712876

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3224C>T; p.A1075V; 9:742206-742206

 stomachadenocarcinomaSubstitution - Missense

c.935A>T; p.Y312F; 9:712175-712175

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2130C>T; p.S710S; 9:713370-713370

 livercarcinomaSubstitution - coding silent

c.2130C>T; p.S710S; 9:713370-713370

 livercarcinomaSubstitution - coding silent

c.510C>T; p.N170N; 9:711750-711750

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2030C>T; p.A677V; 9:713270-713270

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1999C>T; p.H667Y; 9:713239-713239

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.789C>A; p.S263S; 9:712029-712029

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2658_2659GG>TT; p.G887*; 9:732504-732505

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2729A>T; p.Q910L; 9:732575-732575

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2049G>A; p.L683L; 9:713289-713289

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.3010G>A; p.G1004S; 9:738435-738435

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3063G>T; p.K1021N; 9:738488-738488

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2631G>A; p.E877E; 9:732477-732477

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2631G>A; p.E877E; 9:732477-732477

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2631G>A; p.E877E; 9:732477-732477

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.2631G>A; p.E877E; 9:732477-732477

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.2631G>A; p.E877E; 9:732477-732477

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2631G>A; p.E877E; 9:732477-732477

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.2631G>A; p.E877E; 9:732477-732477

 central_nervous_system; braingliomaSubstitution - coding silent

c.916T>G; p.S306A; 9:712156-712156

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.916T>G; p.S306A; 9:712156-712156

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.916T>G; p.S306A; 9:712156-712156

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.916T>G; p.S306A; 9:712156-712156

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.916T>G; p.S306A; 9:712156-712156

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.591G>A; p.E197E; 9:711831-711831

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.3438G>A; p.A1146A; 9:744505-744505

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2886C>T; p.H962H; 9:738311-738311

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2942A>G; p.Y981C; 9:738367-738367

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.609G>A; p.T203T; 9:711849-711849

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2176G>T; p.E726*; 9:713416-713416

 autonomic_ganglianeuroblastomaSubstitution - Nonsense

c.2494G>A; p.A832T; 9:731229-731229

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2243C>G; p.T748S; 9:730069-730069

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.3029A>G; p.Y1010C; 9:738454-738454

 skinmalignant_melanomaSubstitution - Missense

c.2243C>G; p.T748S; 9:730069-730069

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.2924C>T; p.P975L; 9:738349-738349

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2655T>A; p.T885T; 9:732501-732501

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.969T>C; p.H323H; 9:712209-712209

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.95T>C; p.M32T; 9:711335-711335

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3333G>A; p.T1111T; 9:742315-742315

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.3423+2T>C; p.?; 9:742407-742407

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.3522G>A; p.P1174P; 9:744589-744589

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2497A>T; p.K833*; 9:731232-731232

 ovaryother; neoplasmSubstitution - Nonsense

c.3360A>G; p.G1120G; 9:742342-742342

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2772-2A>G; p.?; 9:734746-734746

 urinary_tract; bladdercarcinomaUnknown

c.3551C>A; p.S1184Y; 9:745201-745201

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.897G>C; p.L299L; 9:712137-712137

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.897G>C; p.L299L; 9:712137-712137

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.2053G>A; p.E685K; 9:713293-713293

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.83G>A; p.S28N; 9:711323-711323

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.465G>C; p.Q155H; 9:711705-711705

 livercarcinomaSubstitution - Missense

c.858G>T; p.M286I; 9:712098-712098

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3397G>A; p.G1133S; 9:742379-742379

 bone; femurEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.492G>A; p.R164R; 9:711732-711732

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.3329_3330CC>TT; p.S1110F; 9:742311-742312

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1402C>T; p.R468W; 9:712642-712642

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.491G>T; p.R164L; 9:711731-711731

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1781C>T; p.S594L; 9:713021-713021

 breastcarcinomaSubstitution - Missense

c.1402C>T; p.R468W; 9:712642-712642

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2340C>T; p.S780S; 9:730166-730166

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2712G>A; p.R904R; 9:732558-732558

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1509C>T; p.A503A; 9:712749-712749

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.691T>C; p.S231P; 9:711931-711931

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.721C>T; p.R241W; 9:711961-711961

 ovaryother; neoplasmSubstitution - Missense

c.2037G>T; p.Q679H; 9:713277-713277

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - Missense

c.2184G>A; p.R728R; 9:713424-713424

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.270C>T; p.I90I; 9:711510-711510

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.270C>T; p.I90I; 9:711510-711510

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.3448G>A; p.A1150T; 9:744515-744515

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3289_3292delGCCT; p.A1097fs*41; 9:742271-742274

 endometriumcarcinoma; endometrioid_carcinomaDeletion - Frameshift

c.3375C>T; p.V1125V; 9:742357-742357

 breastcarcinomaSubstitution - coding silent

c.590A>G; p.E197G; 9:711830-711830

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2371A>G; p.T791A; 9:730197-730197

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2878C>A; p.L960I; 9:738303-738303

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.535C>T; p.R179W; 9:711775-711775

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1786G>A; p.V596M; 9:713026-713026

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2595C>T; p.D865D; 9:732441-732441

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1338C>A; p.S446R; 9:712578-712578

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2025G>T; p.L675L; 9:713265-713265

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.244C>T; p.R82C; 9:711484-711484

 large_intestine; caecumadenomaSubstitution - Missense

c.2128A>G; p.S710G; 9:713368-713368

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.800_801insAGCTGT; p.V269_G270insAV; 9:712040-712041

 pancreascarcinoma; ductal_carcinomaInsertion - In frame

c.206C>T; p.P69L; 9:711446-711446

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2100G>T; p.Q700H; 9:713340-713340

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1526G>A; p.R509H; 9:712766-712766

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2737G>A; p.E913K; 9:732583-732583

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2469A>C; p.K823N; 9:731204-731204

 pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.1204G>A; p.V402I; 9:712444-712444

 pancreascarcinomaSubstitution - Missense

c.380C>T; p.P127L; 9:711620-711620

 skinmalignant_melanomaSubstitution - Missense

c.380C>T; p.P127L; 9:711620-711620

 skinmalignant_melanomaSubstitution - Missense

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