Cancer metastasis database

Annotation category 5

Gene information

Gene ID 5291
Symbol

PIK3CB

Synonymous

P110BETA|PI3K|PI3KBETA|PIK3C1

Full name

phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta

Gene description

PI3-kinase p110 subunit beta|PI3-kinase subunit beta|PI3K-beta|PtdIns-3-kinase p110|phosphatidylinositol 4,5-bisphosphate 3-kinase 110 kDa catalytic subunit beta|phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform|phosphatidylino

Cytoband

3q22.3

Gene type

protein-coding

Synonymous

MIM:602925; HGNC:HGNC:8976; Ensembl:ENSG00000051382; HPRD:04234; Vega:OTTHUMG00000159893

COSMIC somatic mutation

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.1618G>T; p.E540*; 3:138699059-138699059

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.3200A>T; p.D1067V; 3:138655402-138655402

skin; extremitymalignant_melanomaSubstitution - Missense

c.3200A>T; p.D1067V; 3:138655402-138655402

thyroidcarcinomaSubstitution - Missense

c.562T>C; p.L188L; 3:138742617-138742617

skinmalignant_melanomaSubstitution - coding silent

c.428C>T; p.P143L; 3:138742751-138742751

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3200A>T; p.D1067V; 3:138655402-138655402

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.3200A>T; p.D1067V; 3:138655402-138655402

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1317G>A; p.A439A; 3:138712290-138712290

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1083T>C; p.T361T; 3:138714687-138714687

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2406G>A; p.V802V; 3:138683697-138683697

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1786C>T; p.Q596*; 3:138694892-138694892

skinmalignant_melanomaSubstitution - Nonsense

c.902A>T; p.E301V; 3:138734704-138734704

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.56C>T; p.A19V; 3:138759288-138759288

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1641G>A; p.L547L; 3:138699036-138699036

thyroidcarcinoma; anaplastic_carcinomaSubstitution - coding silent

c.1250C>T; p.T417M; 3:138714520-138714520

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1250C>T; p.T417M; 3:138714520-138714520

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1251G>A; p.T417T; 3:138714519-138714519

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2505-9_2505-8insT; p.?; 3:138665211-138665212

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.2101G>A; p.G701R; 3:138688910-138688910

livercarcinomaSubstitution - Missense

c.476A>G; p.K159R; 3:138742703-138742703

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.286A>G; p.T96A; 3:138755865-138755865

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2606A>G; p.N869S; 3:138665102-138665102

central_nervous_system; thalamusglioma; astrocytoma_Grade_IISubstitution - Missense

c.762A>G; p.V254V; 3:138737746-138737746

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.2377A>G; p.K793E; 3:138683726-138683726

skinmalignant_melanomaSubstitution - Missense

c.1491G>C; p.E497D; 3:138707198-138707198

breastcarcinomaSubstitution - Missense

c.1059C>A; p.V353V; 3:138714711-138714711

livercarcinomaSubstitution - coding silent

c.1744T>C; p.W582R; 3:138698933-138698933

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2967A>G; p.A989A; 3:138656250-138656250

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.716A>G; p.D239G; 3:138737792-138737792

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.4T>G; p.C2G; 3:138759340-138759340

lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.3199G>T; p.D1067Y; 3:138655403-138655403

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2032C>A; p.L678I; 3:138691004-138691004

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3199G>T; p.D1067Y; 3:138655403-138655403

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2796+2T>G; p.?; 3:138663904-138663904

breastcarcinomaUnknown

c.182A>C; p.K61T; 3:138755969-138755969

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2021T>C; p.L674P; 3:138691015-138691015

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.3151G>A; p.E1051K; 3:138655451-138655451

urinary_tract; bladdercarcinomaSubstitution - Missense

c.3151G>A; p.E1051K; 3:138655451-138655451

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3151G>A; p.E1051K; 3:138655451-138655451

breastcarcinomaSubstitution - Missense

c.3151G>A; p.E1051K; 3:138655451-138655451

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.3151G>A; p.E1051K; 3:138655451-138655451

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3151G>A; p.E1051K; 3:138655451-138655451

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.3151G>A; p.E1051K; 3:138655451-138655451

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1883G>A; p.R628Q; 3:138694795-138694795

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1883G>A; p.R628Q; 3:138694795-138694795

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1883G>A; p.R628Q; 3:138694795-138694795

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2671G>C; p.G891R; 3:138665037-138665037

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.707G>A; p.G236E; 3:138737801-138737801

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2191G>A; p.V731M; 3:138684749-138684749

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3139G>A; p.E1047K; 3:138655463-138655463

urinary_tract; bladdercarcinomaSubstitution - Missense

c.434T>C; p.V145A; 3:138742745-138742745

pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.82G>A; p.G28S; 3:138759262-138759262

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2900T>C; p.V967A; 3:138657732-138657732

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1707C>A; p.F569L; 3:138698970-138698970

soft_tissue; blood_vesselangiosarcomaSubstitution - Missense

c.2126T>C; p.L709P; 3:138688885-138688885

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3194G>A; p.R1065Q; 3:138655408-138655408

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.371C>G; p.S124*; 3:138755780-138755780

breastcarcinomaSubstitution - Nonsense

c.1196G>A; p.R399Q; 3:138714574-138714574

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1519C>T; p.P507S; 3:138707170-138707170

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1914T>C; p.Y638Y; 3:138691122-138691122

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1519C>T; p.P507S; 3:138707170-138707170

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1638C>T; p.P546P; 3:138699039-138699039

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1519C>T; p.P507S; 3:138707170-138707170

skin; earmalignant_melanomaSubstitution - Missense

c.243A>G; p.A81A; 3:138755908-138755908

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.2885A>G; p.Y962C; 3:138657747-138657747

livercarcinomaSubstitution - Missense

c.2885A>G; p.Y962C; 3:138657747-138657747

livercarcinomaSubstitution - Missense

c.2325G>A; p.K775K; 3:138683778-138683778

skinmalignant_melanomaSubstitution - coding silent

c.446G>A; p.R149Q; 3:138742733-138742733

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.446G>A; p.R149Q; 3:138742733-138742733

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.446G>A; p.R149Q; 3:138742733-138742733

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.937C>T; p.L313F; 3:138734669-138734669

NSNSSubstitution - Missense

c.3080C>G; p.S1027C; 3:138655522-138655522

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2104A>G; p.S702G; 3:138688907-138688907

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1266C>T; p.P422P; 3:138714504-138714504

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1316C>T; p.A439V; 3:138712291-138712291

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3146T>G; p.L1049R; 3:138655456-138655456

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1232T>A; p.V411E; 3:138714538-138714538

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1771-5A>T; p.?; 3:138694912-138694912

livercarcinoma; hepatocellular_carcinomaUnknown

c.1407C>T; p.L469L; 3:138707282-138707282

breastcarcinoma; HER-positive_carcinomaSubstitution - coding silent

c.1771-5A>T; p.?; 3:138694912-138694912

livercarcinomaUnknown

c.2908C>T; p.Q970*; 3:138657724-138657724

skinmalignant_melanomaSubstitution - Nonsense

c.1810delC; p.R604fs*4; 3:138694868-138694868

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.568G>T; p.D190Y; 3:138742611-138742611

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.917G>A; p.R306Q; 3:138734689-138734689

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1897G>A; p.E633K; 3:138691139-138691139

breastcarcinoma; HER-positive_carcinomaSubstitution - Missense

c.2451C>T; p.L817L; 3:138682020-138682020

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.207C>T; p.F69F; 3:138755944-138755944

skinmalignant_melanomaSubstitution - coding silent

c.911T>G; p.I304R; 3:138734695-138734695

breastcarcinomaSubstitution - Missense

c.870G>T; p.K290N; 3:138734736-138734736

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3109G>A; p.A1037T; 3:138655493-138655493

endometriumcarcinoma; serous_carcinomaSubstitution - Missense

c.870G>T; p.K290N; 3:138734736-138734736

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.308G>A; p.R103K; 3:138755843-138755843

breastcarcinomaSubstitution - Missense

c.54G>A; p.W18*; 3:138759290-138759290

urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.1914T>A; p.Y638*; 3:138691122-138691122

skinmalignant_melanomaSubstitution - Nonsense

c.1914T>A; p.Y638*; 3:138691122-138691122

skinmalignant_melanomaSubstitution - Nonsense

c.1860A>G; p.R620R; 3:138694818-138694818

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - coding silent

c.1536T>G; p.I512M; 3:138704488-138704488

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.327C>T; p.L109L; 3:138755824-138755824

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2931A>C; p.E977D; 3:138657701-138657701

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1685G>A; p.R562Q; 3:138698992-138698992

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1685G>A; p.R562Q; 3:138698992-138698992

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1520C>T; p.P507L; 3:138707169-138707169

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3205A>C; p.R1069R; 3:138655397-138655397

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1810_1811insC; p.R604fs*29; 3:138694867-138694868

breastcarcinomaInsertion - Frameshift

c.1239G>A; p.T413T; 3:138714531-138714531

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1651T>C; p.C551R; 3:138699026-138699026

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2626T>C; p.F876L; 3:138665082-138665082

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2750T>G; p.I917S; 3:138663952-138663952

prostateadenomaSubstitution - Missense

c.3200A>C; p.D1067A; 3:138655402-138655402

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.3152A>G; p.E1051G; 3:138655450-138655450

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2808T>C; p.I936I; 3:138657824-138657824

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.1408G>A; p.E470K; 3:138707281-138707281

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1078G>T; p.G360C; 3:138714692-138714692

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1408G>A; p.E470K; 3:138707281-138707281

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1408G>A; p.E470K; 3:138707281-138707281

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2096G>T; p.C699F; 3:138688915-138688915

autonomic_ganglianeuroblastomaSubstitution - Missense

c.2163T>G; p.T721T; 3:138684777-138684777

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1660G>A; p.E554K; 3:138699017-138699017

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1661A>G; p.E554G; 3:138699016-138699016

skinmalignant_melanomaSubstitution - Missense

c.137T>A; p.V46E; 3:138759207-138759207

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2505-1G>T; p.?; 3:138665204-138665204

prostatecarcinoma; adenocarcinomaUnknown

c.2302C>T; p.L768F; 3:138684638-138684638

breastcarcinomaSubstitution - Missense

c.2084T>C; p.L695P; 3:138688927-138688927

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1684C>T; p.R562*; 3:138698993-138698993

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.2495T>G; p.L832W; 3:138681976-138681976

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.2495T>G; p.L832W; 3:138681976-138681976

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.2495T>G; p.L832W; 3:138681976-138681976

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.2495T>G; p.L832W; 3:138681976-138681976

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.2495T>G; p.L832W; 3:138681976-138681976

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1473G>A; p.L491L; 3:138707216-138707216

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1745G>A; p.W582*; 3:138698932-138698932

skinmalignant_melanomaSubstitution - Nonsense

c.3106G>A; p.E1036K; 3:138655496-138655496

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2425+10G>A; p.?; 3:138683668-138683668

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.1397C>A; p.P466H; 3:138712210-138712210

autonomic_ganglianeuroblastomaSubstitution - Missense

c.1451A>G; p.Y484C; 3:138707238-138707238

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.61G>C; p.D21H; 3:138759283-138759283

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2659G>T; p.E887*; 3:138665049-138665049

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.2673-1G>A; p.?; 3:138664030-138664030

lungcarcinoma; squamous_cell_carcinomaUnknown

c.962G>A; p.R321Q; 3:138734644-138734644

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1105G>A; p.V369I; 3:138714665-138714665

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1104C>T; p.I368I; 3:138714666-138714666

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.962G>A; p.R321Q; 3:138734644-138734644

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.962G>A; p.R321Q; 3:138734644-138734644

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.962G>A; p.R321Q; 3:138734644-138734644

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.962G>A; p.R321Q; 3:138734644-138734644

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.730T>C; p.Y244H; 3:138737778-138737778

skinmalignant_melanomaSubstitution - Missense

c.378T>C; p.I126I; 3:138755773-138755773

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.3015G>T; p.A1005A; 3:138656202-138656202

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2539C>G; p.R847G; 3:138665169-138665169

breastcarcinoma; lobular_carcinomaSubstitution - Missense

c.1585C>T; p.R529*; 3:138699092-138699092

large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.336G>T; p.V112V; 3:138755815-138755815

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.336G>T; p.V112V; 3:138755815-138755815

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.3163A>G; p.T1055A; 3:138655439-138655439

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.2503C>T; p.R835W; 3:138681968-138681968

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.290G>A; p.R97Q; 3:138755861-138755861

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.761T>A; p.V254E; 3:138737747-138737747

livercarcinomaSubstitution - Missense

c.900A>C; p.I300I; 3:138734706-138734706

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.761T>A; p.V254E; 3:138737747-138737747

livercarcinomaSubstitution - Missense

c.1734G>T; p.L578L; 3:138698943-138698943

autonomic_ganglianeuroblastomaSubstitution - coding silent

c.2547C>T; p.G849G; 3:138665161-138665161

livercarcinomaSubstitution - coding silent

c.2547C>T; p.G849G; 3:138665161-138665161

livercarcinomaSubstitution - coding silent

c.148G>C; p.A50P; 3:138759196-138759196

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.148G>C; p.A50P; 3:138759196-138759196

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.899T>C; p.I300T; 3:138734707-138734707

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2780T>C; p.V927A; 3:138663922-138663922

pancreascarcinomaSubstitution - Missense

c.2780T>C; p.V927A; 3:138663922-138663922

pancreascarcinomaSubstitution - Missense

c.2780T>C; p.V927A; 3:138663922-138663922

pancreascarcinomaSubstitution - Missense

c.2037-1G>T; p.?; 3:138688975-138688975

lungcarcinoma; squamous_cell_carcinomaUnknown

c.552C>T; p.I184I; 3:138742627-138742627

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1235A>C; p.K412T; 3:138714535-138714535

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2788delA; p.T930fs*62; 3:138663914-138663914

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2975T>C; p.I992T; 3:138656242-138656242

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1832A>T; p.D611V; 3:138694846-138694846

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1563T>G; p.S521R; 3:138704461-138704461

skin; acralmalignant_melanomaSubstitution - Missense

c.10A>T; p.S4C; 3:138759334-138759334

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2575A>G; p.T859A; 3:138665133-138665133

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.808C>T; p.R270W; 3:138734798-138734798

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3136G>A; p.D1046N; 3:138655466-138655466

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1524C>T; p.F508F; 3:138707165-138707165

skinmalignant_melanomaSubstitution - coding silent

c.472G>A; p.E158K; 3:138742707-138742707

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.478_479insA; p.I160fs*22; 3:138742700-138742701

lungcarcinoma; adenocarcinomaInsertion - Frameshift

c.419T>C; p.L140S; 3:138742760-138742760

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.480C>T; p.I160I; 3:138742699-138742699

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.3058G>C; p.D1020H; 3:138656159-138656159

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1654G>A; p.E552K; 3:138699023-138699023

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.973-7T>A; p.?; 3:138733445-138733445

lungcarcinoma; squamous_cell_carcinomaUnknown

c.1957G>T; p.D653Y; 3:138691079-138691079

livercarcinomaSubstitution - Missense

c.1627G>A; p.D543N; 3:138699050-138699050

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2008A>T; p.I670L; 3:138691028-138691028

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.204G>A; p.M68I; 3:138755947-138755947

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1957G>T; p.D653Y; 3:138691079-138691079

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1791T>G; p.I597M; 3:138694887-138694887

oesophagus; upper_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2539C>T; p.R847C; 3:138665169-138665169

skinmalignant_melanomaSubstitution - Missense

c.2189C>T; p.A730V; 3:138684751-138684751

breastcarcinomaSubstitution - Missense

c.3076-1G>A; p.?; 3:138655527-138655527

central_nervous_system; brainglioma; astrocytoma_Grade_IVUnknown

c.1411G>A; p.E471K; 3:138707278-138707278

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2539C>T; p.R847C; 3:138665169-138665169

skinmalignant_melanomaSubstitution - Missense

c.2624C>A; p.A875D; 3:138665084-138665084

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2002C>T; p.R668W; 3:138691034-138691034

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2905C>T; p.Q969*; 3:138657727-138657727

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.632G>T; p.S211I; 3:138737876-138737876

lung; middle_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.948A>G; p.P316P; 3:138734658-138734658

lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.1400-4T>G; p.?; 3:138707293-138707293

pancreascarcinomaUnknown

c.1784T>C; p.L595P; 3:138694894-138694894

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2012G>A; p.G671E; 3:138691024-138691024

livercarcinomaSubstitution - Missense

c.2012G>A; p.G671E; 3:138691024-138691024

livercarcinomaSubstitution - Missense

c.385C>T; p.L129F; 3:138755766-138755766

skinmalignant_melanomaSubstitution - Missense

c.3143C>T; p.A1048V; 3:138655459-138655459

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.3143C>T; p.A1048V; 3:138655459-138655459

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3143C>T; p.A1048V; 3:138655459-138655459

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense