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

Basic Information

Gene ID

79728

Name

PALB2

Synonymous

partner and localizer of BRCA2;PALB2;partner and localizer of BRCA2

Definition

-

Position

16p12.2

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 0.11.

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.3503A>G; p.D1168G; 16:23603517-23603517

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3503A>G; p.D1168G; 16:23603517-23603517

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.3503A>G; p.D1168G; 16:23603517-23603517

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3503A>G; p.D1168G; 16:23603517-23603517

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3503A>G; p.D1168G; 16:23603517-23603517

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3017_3018insT; p.L1006fs*5; 16:23621457-23621458

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1697G>A; p.R566H; 16:23630457-23630457

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1471G>A; p.A491T; 16:23635075-23635075

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3306C>T; p.S1102S; 16:23607908-23607908

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2088G>A; p.T696T; 16:23630066-23630066

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.26T>C; p.L9P; 16:23641132-23641132

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1284C>A; p.V428V; 16:23635262-23635262

 thyroidcarcinomaSubstitution - coding silent

c.1351T>G; p.L451V; 16:23635195-23635195

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2059C>T; p.P687S; 16:23630095-23630095

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.3335C>T; p.P1112L; 16:23607879-23607879

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2996+10G>A; p.?; 16:23622959-23622959

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.3132A>G; p.Q1044Q; 16:23614073-23614073

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2208C>A; p.A736A; 16:23629946-23629946

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2715G>A; p.Q905Q; 16:23626269-23626269

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1460T>A; p.V487D; 16:23635086-23635086

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.2463T>C; p.N821N; 16:23629691-23629691

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1237A>T; p.T413S; 16:23635309-23635309

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.3026_3027insC; p.E1010fs*1; 16:23621448-23621449

 large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.3256C>G; p.R1086G; 16:23607958-23607958

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.2197A>G; p.T733A; 16:23629957-23629957

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2197A>G; p.T733A; 16:23629957-23629957

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.839delA; p.N280fs*8; 16:23635707-23635707

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.3319C>T; p.L1107L; 16:23607895-23607895

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.839delA; p.N280fs*8; 16:23635707-23635707

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.3249G>C; p.E1083D; 16:23607965-23607965

 bone; pelvischondrosarcomaSubstitution - Missense

c.3226C>G; p.H1076D; 16:23607988-23607988

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.25C>T; p.L9F; 16:23641133-23641133

 skinmalignant_melanomaSubstitution - Missense

c.25C>T; p.L9F; 16:23641133-23641133

 skinmalignant_melanomaSubstitution - Missense

c.886delA; p.M296fs*1; 16:23635660-23635660

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2338G>A; p.G780S; 16:23629816-23629816

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1005T>C; p.N335N; 16:23635541-23635541

 large_intestine; colonNSSubstitution - coding silent

c.1109A>G; p.Q370R; 16:23635437-23635437

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1109A>G; p.Q370R; 16:23635437-23635437

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1109A>G; p.Q370R; 16:23635437-23635437

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1227T>A; p.Y409*; 16:23635319-23635319

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Nonsense

c.195G>A; p.P65P; 16:23637866-23637866

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.518G>C; p.G173A; 16:23636028-23636028

 pancreascarcinomaSubstitution - Missense

c.2019G>A; p.E673E; 16:23630135-23630135

 oesophaguscarcinomaSubstitution - coding silent

c.3296C>G; p.T1099R; 16:23607918-23607918

 eye; uveal_tractmalignant_melanoma; epithelioidSubstitution - Missense

c.1806A>G; p.Q602Q; 16:23630348-23630348

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2956G>T; p.D986Y; 16:23623009-23623009

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.925A>G; p.I309V; 16:23635621-23635621

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.768C>T; p.S256S; 16:23635778-23635778

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.700G>A; p.D234N; 16:23635846-23635846

 breastcarcinomaSubstitution - Missense

c.1510G>A; p.V504I; 16:23635036-23635036

 prostatecarcinomaSubstitution - Missense

c.3367G>A; p.V1123M; 16:23603653-23603653

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2572G>C; p.V858L; 16:23629218-23629218

 oesophaguscarcinomaSubstitution - Missense

c.285G>A; p.K95K; 16:23636261-23636261

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.602G>A; p.S201N; 16:23635944-23635944

 breastcarcinomaSubstitution - Missense

c.1229T>G; p.V410G; 16:23635317-23635317

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.2130G>A; p.T710T; 16:23630024-23630024

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2922G>A; p.K974K; 16:23623043-23623043

 breastcarcinomaSubstitution - coding silent

c.3023C>T; p.P1008L; 16:23621452-23621452

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.3023C>T; p.P1008L; 16:23621452-23621452

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.2422G>T; p.G808*; 16:23629732-23629732

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.3229C>T; p.P1077S; 16:23607985-23607985

 skinmalignant_melanomaSubstitution - Missense

c.3369G>A; p.V1123V; 16:23603651-23603651

 breastcarcinomaSubstitution - coding silent

c.2422G>T; p.G808*; 16:23629732-23629732

 large_intestine; coloncarcinomaSubstitution - Nonsense

c.1637T>C; p.V546A; 16:23634909-23634909

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3200T>C; p.M1067T; 16:23614005-23614005

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.828C>T; p.H276H; 16:23635718-23635718

 prostatecarcinomaSubstitution - coding silent

c.884A>C; p.K295T; 16:23635662-23635662

 livercarcinomaSubstitution - Missense

c.2916G>T; p.L972L; 16:23623049-23623049

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - coding silent

c.2846G>C; p.C949S; 16:23623119-23623119

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1499C>T; p.S500F; 16:23635047-23635047

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.2793C>A; p.L931L; 16:23624050-23624050

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.541G>T; p.E181*; 16:23636005-23636005

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1457A>G; p.K486R; 16:23635089-23635089

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2595A>T; p.S865S; 16:23626389-23626389

 breastcarcinomaSubstitution - coding silent

c.2509G>A; p.E837K; 16:23629645-23629645

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2639C>T; p.A880V; 16:23626345-23626345

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.174G>A; p.L58L; 16:23637887-23637887

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.1080C>A; p.D360E; 16:23635466-23635466

 ovaryother; neoplasmSubstitution - Missense

c.3436C>T; p.Q1146*; 16:23603584-23603584

 breastcarcinomaSubstitution - Nonsense

c.1948G>A; p.E650K; 16:23630206-23630206

 prostatecarcinomaSubstitution - Missense

c.3517G>T; p.A1173S; 16:23603503-23603503

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1413A>G; p.G471G; 16:23635133-23635133

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1413A>G; p.G471G; 16:23635133-23635133

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1413A>G; p.G471G; 16:23635133-23635133

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.787G>T; p.E263*; 16:23635759-23635759

 ovarycarcinoma; serous_carcinomaSubstitution - Nonsense

c.1120A>T; p.I374F; 16:23635426-23635426

 oesophaguscarcinomaSubstitution - Missense

c.1273G>A; p.V425M; 16:23635273-23635273

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.2911G>C; p.G971R; 16:23623054-23623054

 breastcarcinomaSubstitution - Missense

c.920A>C; p.K307T; 16:23635626-23635626

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2119C>T; p.P707S; 16:23630035-23630035

 skinmalignant_melanomaSubstitution - Missense

c.2659A>G; p.I887V; 16:23626325-23626325

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3494C>T; p.S1165L; 16:23603526-23603526

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.344G>A; p.G115E; 16:23636202-23636202

 breastcarcinomaSubstitution - Missense

c.44A>C; p.E15A; 16:23641114-23641114

 breastcarcinoma; lobular_carcinomaSubstitution - Missense

c.44A>C; p.E15A; 16:23641114-23641114

 breastcarcinoma; lobular_carcinomaSubstitution - Missense

c.108+10T>C; p.?; 16:23638060-23638060

 prostatecarcinoma; adenocarcinomaUnknown

c.2397C>G; p.T799T; 16:23629757-23629757

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.57G>T; p.E19D; 16:23638121-23638121

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.872C>T; p.A291V; 16:23635674-23635674

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1819C>G; p.L607V; 16:23630335-23630335

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.101G>A; p.R34H; 16:23638077-23638077

 ovaryother; neoplasmSubstitution - Missense

c.1827C>T; p.I609I; 16:23630327-23630327

 breastcarcinomaSubstitution - coding silent

c.837A>G; p.K279K; 16:23635709-23635709

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.439A>C; p.R147R; 16:23636107-23636107

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1137G>C; p.K379N; 16:23635409-23635409

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1617T>C; p.V539V; 16:23634929-23634929

 kidneyother; neoplasmSubstitution - coding silent

c.3054G>C; p.E1018D; 16:23621421-23621421

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1110G>A; p.Q370Q; 16:23635436-23635436

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.204A>T; p.K68N; 16:23637857-23637857

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.734C>T; p.A245V; 16:23635812-23635812

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.2471G>A; p.C824Y; 16:23629683-23629683

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1456A>G; p.K486E; 16:23635090-23635090

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2551A>C; p.N851H; 16:23629239-23629239

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3276C>T; p.L1092L; 16:23607938-23607938

 skinmalignant_melanomaSubstitution - coding silent

c.2689C>T; p.L897F; 16:23626295-23626295

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2616G>T; p.V872V; 16:23626368-23626368

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2850C>G; p.S950S; 16:23623115-23623115

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2205A>G; p.P735P; 16:23629949-23629949

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1444C>A; p.L482I; 16:23635102-23635102

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3366C>T; p.D1122D; 16:23603654-23603654

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2005G>A; p.E669K; 16:23630149-23630149

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2946G>C; p.G982G; 16:23623019-23623019

 breastcarcinoma; ductal_carcinomaSubstitution - coding silent

c.2979G>A; p.T993T; 16:23622986-23622986

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2979G>A; p.T993T; 16:23622986-23622986

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1968A>G; p.P656P; 16:23630186-23630186

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2891G>T; p.G964V; 16:23623074-23623074

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2891G>T; p.G964V; 16:23623074-23623074

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2891G>T; p.G964V; 16:23623074-23623074

 large_intestine; coloncarcinomaSubstitution - Missense

c.2891G>T; p.G964V; 16:23623074-23623074

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1586C>T; p.P529L; 16:23634960-23634960

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3096G>T; p.M1032I; 16:23621379-23621379

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.456G>C; p.K152N; 16:23636090-23636090

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2328C>T; p.F776F; 16:23629826-23629826

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2328C>T; p.F776F; 16:23629826-23629826

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2933T>A; p.V978D; 16:23623032-23623032

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.3022C>A; p.P1008T; 16:23621453-23621453

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1660G>A; p.E554K; 16:23634886-23634886

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1571C>T; p.S524L; 16:23634975-23634975

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.3378C>G; p.H1126Q; 16:23603642-23603642

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2852C>T; p.S951F; 16:23623113-23623113

 skinmalignant_melanomaSubstitution - Missense

c.258C>T; p.T86T; 16:23636288-23636288

 skinmalignant_melanomaSubstitution - coding silent

c.1553C>G; p.S518*; 16:23634993-23634993

 ovaryother; neoplasmSubstitution - Nonsense

c.1553C>G; p.S518*; 16:23634993-23634993

 ovaryother; neoplasmSubstitution - Nonsense

c.569C>T; p.S190L; 16:23635977-23635977

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.3311G>C; p.G1104A; 16:23607903-23607903

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2083A>G; p.K695E; 16:23630071-23630071

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.59A>G; p.K20R; 16:23638119-23638119

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.45A>G; p.E15E; 16:23641113-23641113

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2160C>G; p.T720T; 16:23629994-23629994

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.659G>A; p.S220N; 16:23635887-23635887

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.44A>G; p.E15G; 16:23641114-23641114

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2855A>G; p.D952G; 16:23623110-23623110

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1458A>G; p.K486K; 16:23635088-23635088

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.609A>G; p.K203K; 16:23635937-23635937

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.662T>C; p.V221A; 16:23635884-23635884

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1458A>G; p.K486K; 16:23635088-23635088

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2329G>A; p.D777N; 16:23629825-23629825

 pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.2329G>A; p.D777N; 16:23629825-23629825

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1899A>G; p.K633K; 16:23630255-23630255

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2679T>G; p.D893E; 16:23626305-23626305

 skinmalignant_melanomaSubstitution - Missense

c.1463G>T; p.S488I; 16:23635083-23635083

 breastcarcinomaSubstitution - Missense

c.2294A>T; p.D765V; 16:23629860-23629860

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1746C>A; p.S582S; 16:23630408-23630408

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.157G>A; p.E53K; 16:23637904-23637904

 breastcarcinomaSubstitution - Missense

c.2258G>A; p.R753Q; 16:23629896-23629896

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.3550C>A; p.H1184N; 16:23603470-23603470

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.100C>T; p.R34C; 16:23638078-23638078

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3036T>C; p.T1012T; 16:23621439-23621439

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1143T>C; p.L381L; 16:23635403-23635403

 livercarcinomaSubstitution - coding silent

c.1958G>T; p.C653F; 16:23630196-23630196

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.453G>A; p.Q151Q; 16:23636093-23636093

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1379A>G; p.Q460R; 16:23635167-23635167

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2939G>A; p.S980N; 16:23623026-23623026

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1108C>T; p.Q370*; 16:23635438-23635438

 ovarycarcinoma; serous_carcinomaSubstitution - Nonsense

c.3166C>T; p.Q1056*; 16:23614039-23614039

 skinmalignant_melanomaSubstitution - Nonsense

c.1314delA; p.F440fs*12; 16:23635232-23635232

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.886_887insA; p.M296fs*7; 16:23635659-23635660

 large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.3364G>A; p.D1122N; 16:23603656-23603656

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2413G>T; p.V805F; 16:23629741-23629741

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.870G>A; p.E290E; 16:23635676-23635676

 skinmalignant_melanomaSubstitution - coding silent

c.1602T>C; p.S534S; 16:23634944-23634944

 central_nervous_system; braingliomaSubstitution - coding silent

c.1507G>T; p.A503S; 16:23635039-23635039

 pancreascarcinomaSubstitution - Missense

c.1018A>C; p.N340H; 16:23635528-23635528

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.907_910delCTCC; p.L304fs*1; 16:23635636-23635639

 skinmalignant_melanomaDeletion - Frameshift

c.5A>G; p.D2G; 16:23641153-23641153

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1498T>C; p.S500P; 16:23635048-23635048

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2584A>G; p.K862E; 16:23629206-23629206

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1984A>G; p.K662E; 16:23630170-23630170

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.15C>T; p.P5P; 16:23641143-23641143

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.375A>G; p.Q125Q; 16:23636171-23636171

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2506G>A; p.V836I; 16:23629648-23629648

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1565delC; p.P522fs*39; 16:23634981-23634981

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2434C>T; p.P812S; 16:23629720-23629720

 skinmalignant_melanomaSubstitution - Missense

c.1129C>G; p.Q377E; 16:23635417-23635417

 breastcarcinoma; HER-positive_carcinomaSubstitution - Missense

c.2528A>G; p.E843G; 16:23629262-23629262

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.983C>A; p.S328Y; 16:23635563-23635563

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.3466G>C; p.D1156H; 16:23603554-23603554

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3456A>T; p.P1152P; 16:23603564-23603564

 ovaryother; neoplasmSubstitution - coding silent

c.997A>G; p.T333A; 16:23635549-23635549

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.987A>G; p.L329L; 16:23635559-23635559

 skinmalignant_melanomaSubstitution - coding silent

c.698T>A; p.V233D; 16:23635848-23635848

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2503T>C; p.S835P; 16:23629651-23629651

 skinmalignant_melanomaSubstitution - Missense

c.660T>A; p.S220R; 16:23635886-23635886

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2750T>A; p.V917D; 16:23624093-23624093

 skinmalignant_melanomaSubstitution - Missense

c.252C>A; p.I84I; 16:23636294-23636294

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.829G>A; p.D277N; 16:23635717-23635717

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1366G>C; p.E456Q; 16:23635180-23635180

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.829G>A; p.D277N; 16:23635717-23635717

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

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