Cancer metastasis database

Annotation category 5

Gene information

Gene ID 6401
Symbol

SELE

Synonymous

CD62E|ELAM|ELAM1|ESEL|LECAM2

Full name

selectin E

Gene description

CD62 antigen-like family member E|E-selectin|ELAM-1|endothelial adhesion molecule 1|endothelial leukocyte adhesion molecule 1|leukocyte endothelial cell adhesion molecule 2|leukocyte-endothelial cell adhesion molecule 2

Cytoband

1q24.2

Gene type

protein-coding

Synonymous

MIM:131210; HGNC:HGNC:10718; Ensembl:ENSG00000007908; HPRD:00566; Vega:OTTHUMG00000034851

COSMIC somatic mutation

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.1056A>C; p.Q352H; 1:169729220-169729220

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.284A>T; p.K95M; 1:169732752-169732752

kidneyother; neoplasmSubstitution - Missense

c.1460C>T; p.S487F; 1:169727747-169727747

skinmalignant_melanomaSubstitution - Missense

c.556C>T; p.P186S; 1:169730591-169730591

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.440C>T; p.S147F; 1:169731924-169731924

skinmalignant_melanomaSubstitution - Missense

c.440C>T; p.S147F; 1:169731924-169731924

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.80C>G; p.S27C; 1:169732956-169732956

breastcarcinomaSubstitution - Missense

c.823G>A; p.G275R; 1:169729566-169729566

skinmalignant_melanomaSubstitution - Missense

c.1490C>G; p.A497G; 1:169727504-169727504

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.177A>G; p.L59L; 1:169732859-169732859

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.936T>A; p.N312K; 1:169729340-169729340

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1825A>G; p.I609V; 1:169725752-169725752

skinmalignant_melanomaSubstitution - Missense

c.19C>A; p.L7I; 1:169733594-169733594

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1790T>A; p.L597H; 1:169725787-169725787

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.19C>A; p.L7I; 1:169733594-169733594

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1494T>C; p.V498V; 1:169727500-169727500

skinmalignant_melanomaSubstitution - coding silent

c.1201G>T; p.G401C; 1:169728136-169728136

skin; solemalignant_melanoma; acral_lentiginousSubstitution - Missense

c.1524G>A; p.G508G; 1:169727470-169727470

skinmalignant_melanomaSubstitution - coding silent

c.959C>T; p.S320F; 1:169729317-169729317

skinmalignant_melanomaSubstitution - Missense

c.959C>T; p.S320F; 1:169729317-169729317

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.919G>A; p.V307I; 1:169729357-169729357

pancreascarcinoid-endocrine_tumourSubstitution - Missense

c.769C>T; p.Q257*; 1:169729620-169729620

skinmalignant_melanomaSubstitution - Nonsense

c.344A>G; p.Y115C; 1:169732692-169732692

prostatecarcinomaSubstitution - Missense

c.107C>A; p.A36D; 1:169732929-169732929

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.631G>A; p.D211N; 1:169730516-169730516

skinmalignant_melanomaSubstitution - Missense

c.182C>T; p.S61F; 1:169732854-169732854

skinmalignant_melanomaSubstitution - Missense

c.883G>A; p.E295K; 1:169729506-169729506

skinmalignant_melanomaSubstitution - Missense

c.182C>T; p.S61F; 1:169732854-169732854

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.645G>T; p.L215L; 1:169730502-169730502

central_nervous_system; braingliomaSubstitution - coding silent

c.922C>T; p.R308C; 1:169729354-169729354

oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.454G>T; p.G152C; 1:169731910-169731910

upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.874T>C; p.W292R; 1:169729515-169729515

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.627C>A; p.S209R; 1:169730520-169730520

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.83C>T; p.T28M; 1:169732953-169732953

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.727G>A; p.D243N; 1:169729662-169729662

breastcarcinomaSubstitution - Missense

c.1248G>A; p.G416G; 1:169728089-169728089

skinmalignant_melanomaSubstitution - coding silent

c.1321G>A; p.V441M; 1:169727886-169727886

skin; trunkmalignant_melanomaSubstitution - Missense

c.1667C>T; p.P556L; 1:169726785-169726785

skinmalignant_melanomaSubstitution - Missense

c.1268C>T; p.P423L; 1:169728069-169728069

skinmalignant_melanomaSubstitution - Missense

c.1386G>A; p.E462E; 1:169727821-169727821

skinmalignant_melanomaSubstitution - coding silent

c.360A>T; p.K120N; 1:169732676-169732676

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.199C>T; p.P67S; 1:169732837-169732837

skinmalignant_melanomaSubstitution - Missense

c.1289G>A; p.C430Y; 1:169727918-169727918

central_nervous_system; braingliomaSubstitution - Missense

c.183C>T; p.S61S; 1:169732853-169732853

skinmalignant_melanomaSubstitution - coding silent

c.1031C>T; p.P344L; 1:169729245-169729245

skinmalignant_melanomaSubstitution - Missense

c.1456C>T; p.P486S; 1:169727751-169727751

skinmalignant_melanomaSubstitution - Missense

c.1279+1G>A; p.?; 1:169728057-169728057

skin; trunkmalignant_melanomaUnknown

c.773A>G; p.N258S; 1:169729616-169729616

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.438A>G; p.T146T; 1:169731926-169731926

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1021T>A; p.L341M; 1:169729255-169729255

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.549G>A; p.L183L; 1:169730598-169730598

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.967G>A; p.G323R; 1:169729309-169729309

skinmalignant_melanomaSubstitution - Missense

c.1182T>C; p.C394C; 1:169728155-169728155

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.526C>A; p.Q176K; 1:169731838-169731838

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1580A>G; p.N527S; 1:169727414-169727414

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.829G>C; p.E277Q; 1:169729560-169729560

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1164C>T; p.F388F; 1:169728173-169728173

skinmalignant_melanomaSubstitution - coding silent

c.766T>A; p.F256I; 1:169729623-169729623

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.893C>T; p.T298M; 1:169729496-169729496

central_nervous_system; braingliomaSubstitution - Missense

c.893C>T; p.T298M; 1:169729496-169729496

central_nervous_system; braingliomaSubstitution - Missense

c.1479T>G; p.C493W; 1:169727515-169727515

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1311G>A; p.P437P; 1:169727896-169727896

skinmalignant_melanomaSubstitution - coding silent

c.1290C>T; p.C430C; 1:169727917-169727917

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1290C>T; p.C430C; 1:169727917-169727917

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1311G>A; p.P437P; 1:169727896-169727896

skinmalignant_melanomaSubstitution - coding silent

c.1290C>T; p.C430C; 1:169727917-169727917

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1800T>C; p.D600D; 1:169725777-169725777

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1311G>A; p.P437P; 1:169727896-169727896

stomachadenocarcinomaSubstitution - coding silent

c.1311G>A; p.P437P; 1:169727896-169727896

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.885G>A; p.E295E; 1:169729504-169729504

breastcarcinomaSubstitution - coding silent

c.1311G>A; p.P437P; 1:169727896-169727896

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.135A>C; p.T45T; 1:169732901-169732901

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.756C>T; p.F252F; 1:169729633-169729633

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.756C>T; p.F252F; 1:169729633-169729633

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.756C>T; p.F252F; 1:169729633-169729633

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.756C>T; p.F252F; 1:169729633-169729633

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.445A>C; p.S149R; 1:169731919-169731919

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.756C>T; p.F252F; 1:169729633-169729633

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1190C>T; p.S397F; 1:169728147-169728147

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.781A>G; p.S261G; 1:169729608-169729608

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1171G>C; p.G391R; 1:169728166-169728166

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.197C>T; p.S66L; 1:169732839-169732839

skinmalignant_melanomaSubstitution - Missense

c.708C>A; p.A236A; 1:169730439-169730439

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.84G>A; p.T28T; 1:169732952-169732952

skinmalignant_melanomaSubstitution - coding silent

c.565G>A; p.G189R; 1:169730582-169730582

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.565G>A; p.G189R; 1:169730582-169730582

skin; upper_legmalignant_melanomaSubstitution - Missense

c.968G>A; p.G323E; 1:169729308-169729308

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1435G>A; p.G479R; 1:169727772-169727772

skinmalignant_melanomaSubstitution - Missense

c.620C>A; p.S207Y; 1:169730527-169730527

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.882C>T; p.N294N; 1:169729507-169729507

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.975C>T; p.F325F; 1:169729301-169729301

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.37G>T; p.V13L; 1:169733576-169733576

skin; scalpmalignant_melanomaSubstitution - Missense

c.1432C>T; p.Q478*; 1:169727775-169727775

breastcarcinomaSubstitution - Nonsense

c.611C>A; p.S204Y; 1:169730536-169730536

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.745G>T; p.A249S; 1:169729644-169729644

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.273A>G; p.T91T; 1:169732763-169732763

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.593G>A; p.G198E; 1:169730554-169730554

skinmalignant_melanomaSubstitution - Missense

c.1220C>T; p.S407F; 1:169728117-169728117

skinmalignant_melanomaSubstitution - Missense

c.1123C>T; p.R375*; 1:169728214-169728214

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1123C>T; p.R375*; 1:169728214-169728214

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1723C>A; p.L575I; 1:169726729-169726729

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1077C>T; p.I359I; 1:169729199-169729199

skinmalignant_melanomaSubstitution - coding silent

c.1242delC; p.T415fs*14; 1:169728095-169728095

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1723C>A; p.L575I; 1:169726729-169726729

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.41T>G; p.L14R; 1:169732995-169732995

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1062G>A; p.Q354Q; 1:169729214-169729214

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.955C>T; p.H319Y; 1:169729321-169729321

skin; upper_armmalignant_melanomaSubstitution - Missense

c.961C>T; p.P321S; 1:169729315-169729315

skinmalignant_melanomaSubstitution - Missense

c.1722delT; p.L575fs*>36; 1:169726730-169726730

endometriumcarcinoma; endometrioid_carcinomaDeletion - Frameshift

c.305C>T; p.P102L; 1:169732731-169732731

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1058G>A; p.G353E; 1:169729218-169729218

skinmalignant_melanomaSubstitution - Missense

c.756C>A; p.F252L; 1:169729633-169729633

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.337G>A; p.E113K; 1:169732699-169732699

skinmalignant_melanomaSubstitution - Missense

c.792G>A; p.W264*; 1:169729597-169729597

skinmalignant_melanomaSubstitution - Nonsense

c.1302C>A; p.H434Q; 1:169727905-169727905

pancreascarcinomaSubstitution - Missense

c.544G>A; p.A182T; 1:169730603-169730603

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1302C>A; p.H434Q; 1:169727905-169727905

pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.494G>T; p.C165F; 1:169731870-169731870

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1530C>G; p.P510P; 1:169727464-169727464

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1796C>T; p.S599L; 1:169725781-169725781

skinmalignant_melanomaSubstitution - Missense

c.715G>A; p.V239M; 1:169730432-169730432

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.642C>A; p.Y214*; 1:169730505-169730505

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.786C>T; p.F262F; 1:169729603-169729603

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1390G>A; p.G464R; 1:169727817-169727817

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.757G>A; p.V253M; 1:169729632-169729632

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.844C>A; p.Q282K; 1:169729545-169729545

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1498G>A; p.G500R; 1:169727496-169727496

skinmalignant_melanomaSubstitution - Missense

c.422-2A>G; p.?; 1:169731944-169731944

large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.1541C>G; p.T514S; 1:169727453-169727453

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.545C>T; p.A182V; 1:169730602-169730602

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1420G>C; p.E474Q; 1:169727787-169727787

urinary_tract; bladdercarcinomaSubstitution - Missense

c.124C>G; p.Q42E; 1:169732912-169732912

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1735C>T; p.R579W; 1:169726717-169726717

skinmalignant_melanomaSubstitution - Missense

c.1672G>T; p.V558L; 1:169726780-169726780

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1279+2T>C; p.?; 1:169728056-169728056

central_nervous_system; brainglioma; astrocytoma_Grade_IVUnknown

c.1279+2T>C; p.?; 1:169728056-169728056

central_nervous_system; brainglioma; astrocytoma_Grade_IVUnknown

c.333C>T; p.C111C; 1:169732703-169732703

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.1594C>A; p.R532R; 1:169727400-169727400

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1136A>C; p.N379T; 1:169728201-169728201

pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.1598C>T; p.T533I; 1:169727396-169727396

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1573A>G; p.T525A; 1:169727421-169727421

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1303C>A; p.Q435K; 1:169727904-169727904

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1181G>T; p.C394F; 1:169728156-169728156

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.999C>T; p.F333F; 1:169729277-169729277

skinmalignant_melanomaSubstitution - coding silent

c.246C>G; p.V82V; 1:169732790-169732790

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.680C>T; p.S227F; 1:169730467-169730467

skinmalignant_melanomaSubstitution - Missense

c.1353C>T; p.F451F; 1:169727854-169727854

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.454G>A; p.G152S; 1:169731910-169731910

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.879C>A; p.D293E; 1:169729510-169729510

autonomic_ganglianeuroblastomaSubstitution - Missense

c.1230C>T; p.L410L; 1:169728107-169728107

skinmalignant_melanomaSubstitution - coding silent

c.1230C>T; p.L410L; 1:169728107-169728107

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1814A>G; p.K605R; 1:169725763-169725763

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.850C>T; p.L284F; 1:169729539-169729539

skin; neckmalignant_melanomaSubstitution - Missense

c.1402C>T; p.H468Y; 1:169727805-169727805

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1402C>T; p.H468Y; 1:169727805-169727805

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1402C>T; p.H468Y; 1:169727805-169727805

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1216G>A; p.G406R; 1:169728121-169728121

skinmalignant_melanomaSubstitution - Missense

c.1576C>T; p.L526F; 1:169727418-169727418

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.251T>C; p.V84A; 1:169732785-169732785

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.603C>A; p.S201R; 1:169730544-169730544

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.251T>C; p.V84A; 1:169732785-169732785

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.529+1G>C; p.?; 1:169731834-169731834

oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaUnknown

c.1340C>T; p.P447L; 1:169727867-169727867

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1353C>A; p.F451L; 1:169727854-169727854

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1009G>A; p.E337K; 1:169729267-169729267

skinmalignant_melanomaSubstitution - Missense

c.675G>A; p.M225I; 1:169730472-169730472

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1124G>A; p.R375Q; 1:169728213-169728213

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1563T>G; p.P521P; 1:169727431-169727431

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.428G>T; p.C143F; 1:169731936-169731936

skinmalignant_melanomaSubstitution - Missense

c.1008G>A; p.E336E; 1:169729268-169729268

prostatecarcinomaSubstitution - coding silent

c.1488G>T; p.L496L; 1:169727506-169727506

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1279+3A>G; p.?; 1:169728055-169728055

haematopoietic_and_lymphoid_tissuelymphoid_neoplasmUnknown

c.1291G>A; p.D431N; 1:169727916-169727916

skinmalignant_melanomaSubstitution - Missense

c.579C>A; p.C193*; 1:169730568-169730568

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1017C>T; p.F339F; 1:169729259-169729259

skinmalignant_melanomaSubstitution - coding silent

c.796A>T; p.T266S; 1:169729593-169729593

oesophaguscarcinomaSubstitution - Missense

c.208T>C; p.Y70H; 1:169732828-169732828

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.400A>C; p.K134Q; 1:169732636-169732636

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.800C>G; p.T267S; 1:169729589-169729589

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1697T>C; p.L566P; 1:169726755-169726755

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1314G>A; p.K438K; 1:169727893-169727893

skinmalignant_melanomaSubstitution - coding silent

c.591G>A; p.L197L; 1:169730556-169730556

skinmalignant_melanomaSubstitution - coding silent

c.69T>C; p.S23S; 1:169732967-169732967

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.406G>A; p.A136T; 1:169732630-169732630

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1386G>T; p.E462D; 1:169727821-169727821

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1823A>G; p.Y608C; 1:169725754-169725754

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.1166G>A; p.R389H; 1:169728171-169728171

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1166G>A; p.R389H; 1:169728171-169728171

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1481C>T; p.S494L; 1:169727513-169727513

skinmalignant_melanomaSubstitution - Missense

c.274G>A; p.E92K; 1:169732762-169732762

skinmalignant_melanomaSubstitution - Missense

c.1648C>T; p.P550S; 1:169726804-169726804

skinmalignant_melanomaSubstitution - Missense

c.1544T>A; p.V515E; 1:169727450-169727450

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.166A>G; p.I56V; 1:169732870-169732870

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.715+1G>A; p.?; 1:169730431-169730431

skinmalignant_melanomaUnknown

c.1525G>A; p.E509K; 1:169727469-169727469

skinmalignant_melanomaSubstitution - Missense

c.1548C>A; p.C516*; 1:169727446-169727446

lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.252A>T; p.V84V; 1:169732784-169732784

ovarycarcinoma; serous_carcinomaSubstitution - coding silent