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

Basic Information

Gene ID

6910

Name

TBX5

Synonymous

T-box 5;TBX5;T-box 5

Definition

T-box protein 5|T-box transcription factor TBX5

Position

12q24.1

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 0.10.

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.72C>T; p.C24C; 12:114403827-114403827

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.72C>T; p.C24C; 12:114403827-114403827

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.549A>G; p.L183L; 12:114394855-114394855

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.841C>T; p.L281F; 12:114366306-114366306

 skinmalignant_melanomaSubstitution - Missense

c.731T>C; p.L244P; 12:114385500-114385500

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1435C>G; p.P479A; 12:114355654-114355654

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1300C>T; p.P434S; 12:114355789-114355789

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1469C>T; p.S490F; 12:114355620-114355620

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.375C>T; p.G125G; 12:114398708-114398708

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1469C>T; p.S490F; 12:114355620-114355620

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1537G>C; p.E513Q; 12:114355552-114355552

 ovaryother; neoplasmSubstitution - Missense

c.647C>T; p.S216F; 12:114394757-114394757

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1213C>G; p.P405A; 12:114355876-114355876

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1148C>G; p.S383C; 12:114355941-114355941

 breastcarcinomaSubstitution - Missense

c.3G>A; p.M1I; 12:114403896-114403896

 pancreasNSSubstitution - Missense

c.1461C>T; p.F487F; 12:114355628-114355628

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1469C>G; p.S490C; 12:114355620-114355620

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.409G>A; p.V137M; 12:114398674-114398674

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1129G>A; p.A377T; 12:114355960-114355960

 thyroidcarcinomaSubstitution - Missense

c.861G>T; p.L287F; 12:114366286-114366286

 oesophaguscarcinomaSubstitution - Missense

c.38C>T; p.T13M; 12:114403861-114403861

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.38C>T; p.T13M; 12:114403861-114403861

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.556G>A; p.V186M; 12:114394848-114394848

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.556G>A; p.V186M; 12:114394848-114394848

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.591A>C; p.K197N; 12:114394813-114394813

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1124G>T; p.R375L; 12:114355965-114355965

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1247A>T; p.Q416L; 12:114355842-114355842

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1301C>A; p.P434H; 12:114355788-114355788

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.518T>A; p.L173Q; 12:114394886-114394886

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1301C>A; p.P434H; 12:114355788-114355788

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.205G>A; p.E69K; 12:114401863-114401863

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.872A>C; p.Y291S; 12:114366275-114366275

 thyroidother; neoplasmSubstitution - Missense

c.1208G>A; p.S403N; 12:114355881-114355881

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.82C>A; p.P28T; 12:114403817-114403817

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.759_760insT; p.E254fs*1; 12:114366387-114366388

 endometriumcarcinoma; endometrioid_carcinomaInsertion - Frameshift

c.327C>T; p.A109A; 12:114399548-114399548

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.759_760insT; p.E254fs*1; 12:114366387-114366388

 endometriumcarcinoma; endometrioid_carcinomaInsertion - Frameshift

c.345A>T; p.K115N; 12:114399530-114399530

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.786C>T; p.T262T; 12:114366361-114366361

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.426C>T; p.P142P; 12:114398657-114398657

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1417C>G; p.Q473E; 12:114355672-114355672

 breastcarcinomaSubstitution - Missense

c.426C>T; p.P142P; 12:114398657-114398657

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.426C>T; p.P142P; 12:114398657-114398657

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - coding silent

c.1116G>A; p.S372S; 12:114355973-114355973

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.977G>A; p.R326K; 12:114366170-114366170

 skinmalignant_melanomaSubstitution - Missense

c.756-10T>A; p.?; 12:114366401-114366401

 livercarcinomaUnknown

c.756-10T>A; p.?; 12:114366401-114366401

 livercarcinomaUnknown

c.362G>A; p.W121*; 12:114399513-114399513

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.756-10T>A; p.?; 12:114366401-114366401

 livercarcinomaUnknown

c.750G>T; p.M250I; 12:114385481-114385481

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.811C>T; p.H271Y; 12:114366336-114366336

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1233C>T; p.T411T; 12:114355856-114355856

 skinmalignant_melanomaSubstitution - coding silent

c.904C>A; p.Q302K; 12:114366243-114366243

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.669G>T; p.T223T; 12:114385562-114385562

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1230C>G; p.C410W; 12:114355859-114355859

 kidneyother; neoplasmSubstitution - Missense

c.1527C>T; p.G509G; 12:114355562-114355562

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.148G>T; p.G50C; 12:114401920-114401920

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.389C>A; p.A130D; 12:114398694-114398694

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.119C>T; p.S40L; 12:114403780-114403780

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1454_1455insC; p.E486fs*1; 12:114355634-114355635

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.432C>T; p.T144T; 12:114398651-114398651

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1473T>C; p.H491H; 12:114355616-114355616

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.501A>C; p.P167P; 12:114398582-114398582

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.245G>A; p.R82Q; 12:114399630-114399630

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.982+5G>C; p.?; 12:114366160-114366160

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.805T>A; p.S269T; 12:114366342-114366342

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.829G>A; p.E277K; 12:114366318-114366318

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.493C>T; p.L165L; 12:114398590-114398590

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1123C>T; p.R375W; 12:114355966-114355966

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.800T>C; p.V267A; 12:114366347-114366347

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.800T>C; p.V267A; 12:114366347-114366347

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1123C>T; p.R375W; 12:114355966-114355966

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1123C>T; p.R375W; 12:114355966-114355966

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1123C>T; p.R375W; 12:114355966-114355966

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.117G>A; p.P39P; 12:114403782-114403782

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1417C>A; p.Q473K; 12:114355672-114355672

 lung; middle_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.33G>A; p.A11A; 12:114403866-114403866

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1056C>A; p.S352S; 12:114356033-114356033

 lung; middle_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.524C>T; p.S175F; 12:114394880-114394880

 skinmalignant_melanomaSubstitution - Missense

c.49C>A; p.P17T; 12:114403850-114403850

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.663_663+1GG>AA; p.?; 12:114394740-114394741

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.1039C>G; p.P347A; 12:114356050-114356050

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.39G>A; p.T13T; 12:114403860-114403860

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.919C>A; p.P307T; 12:114366228-114366228

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.919C>A; p.P307T; 12:114366228-114366228

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.857A>T; p.N286I; 12:114366290-114366290

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1387C>T; p.H463Y; 12:114355702-114355702

 skinmalignant_melanomaSubstitution - Missense

c.100G>C; p.A34P; 12:114403799-114403799

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1158delC; p.S387fs*7; 12:114355931-114355931

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1158delC; p.S387fs*7; 12:114355931-114355931

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.514A>T; p.I172F; 12:114394890-114394890

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1063C>T; p.R355C; 12:114356026-114356026

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.774C>T; p.V258V; 12:114366373-114366373

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.746G>T; p.R249I; 12:114385485-114385485

 breastcarcinomaSubstitution - Missense

c.278G>C; p.G93A; 12:114399597-114399597

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.490C>T; p.H164Y; 12:114398593-114398593

 skinmalignant_melanomaSubstitution - Missense

c.510T>C; p.H170H; 12:114398573-114398573

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.988G>T; p.E330*; 12:114356101-114356101

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.552C>T; p.H184H; 12:114394852-114394852

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1259G>A; p.R420K; 12:114355830-114355830

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.540G>A; p.Q180Q; 12:114394864-114394864

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.860T>C; p.L287S; 12:114366287-114366287

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1431G>A; p.Q477Q; 12:114355658-114355658

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.670C>G; p.Q224E; 12:114385561-114385561

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1475G>A; p.G492D; 12:114355614-114355614

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.10G>A; p.A4T; 12:114403889-114403889

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.788delT; p.V263fs*131; 12:114366359-114366359

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.578G>T; p.G193V; 12:114394826-114394826

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.578G>T; p.G193V; 12:114394826-114394826

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1546G>A; p.D516N; 12:114355543-114355543

 central_nervous_system; braingliomaSubstitution - Missense

c.78G>A; p.S26S; 12:114403821-114403821

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.78G>A; p.S26S; 12:114403821-114403821

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1546G>A; p.D516N; 12:114355543-114355543

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1546G>A; p.D516N; 12:114355543-114355543

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.961T>G; p.Y321D; 12:114366186-114366186

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.73G>A; p.D25N; 12:114403826-114403826

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.73G>A; p.D25N; 12:114403826-114403826

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.247A>T; p.M83L; 12:114399628-114399628

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.838G>A; p.A280T; 12:114366309-114366309

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.465C>A; p.F155L; 12:114398618-114398618

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.600G>A; p.A200A; 12:114394804-114394804

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.600G>A; p.A200A; 12:114394804-114394804

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1377C>A; p.T459T; 12:114355712-114355712

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1518C>T; p.H506H; 12:114355571-114355571

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1518C>T; p.H506H; 12:114355571-114355571

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.980A>C; p.K327T; 12:114366167-114366167

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.545G>A; p.R182K; 12:114394859-114394859

 thyroidother; neoplasmSubstitution - Missense

c.1395T>A; p.P465P; 12:114355694-114355694

 pancreascarcinomaSubstitution - coding silent

c.402C>A; p.R134R; 12:114398681-114398681

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.737G>T; p.R246I; 12:114385494-114385494

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.77C>T; p.S26L; 12:114403822-114403822

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.77C>T; p.S26L; 12:114403822-114403822

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.766C>T; p.P256S; 12:114366381-114366381

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1301C>T; p.P434L; 12:114355788-114355788

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDSSubstitution - Missense

c.835C>T; p.R279*; 12:114366312-114366312

 skin; acralmalignant_melanomaSubstitution - Nonsense

c.88A>G; p.S30G; 12:114403811-114403811

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1477G>A; p.V493M; 12:114355612-114355612

 breastcarcinomaSubstitution - Missense

c.894C>T; p.S298S; 12:114366253-114366253

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.793C>A; p.Q265K; 12:114366354-114366354

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.438G>A; p.A146A; 12:114398645-114398645

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.16G>A; p.E6K; 12:114403883-114403883

 skinmalignant_melanomaSubstitution - Missense

c.16G>A; p.E6K; 12:114403883-114403883

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; plasma_cell_myelomaSubstitution - Missense

c.1313G>A; p.R438Q; 12:114355776-114355776

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.849C>A; p.T283T; 12:114366298-114366298

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.866C>T; p.S289F; 12:114366281-114366281

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.907G>A; p.D303N; 12:114366240-114366240

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1111G>A; p.E371K; 12:114355978-114355978

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.982+9G>A; p.?; 12:114366156-114366156

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.1111G>A; p.E371K; 12:114355978-114355978

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.669G>A; p.T223T; 12:114385562-114385562

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.669G>A; p.T223T; 12:114385562-114385562

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.669G>A; p.T223T; 12:114385562-114385562

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1519G>A; p.G507R; 12:114355570-114355570

 skinmalignant_melanomaSubstitution - Missense

c.310A>T; p.M104L; 12:114399565-114399565

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.769G>A; p.V257M; 12:114366378-114366378

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.798A>C; p.K266N; 12:114366349-114366349

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.682G>T; p.E228*; 12:114385549-114385549

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1372C>G; p.Q458E; 12:114355717-114355717

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.839C>A; p.A280D; 12:114366308-114366308

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1012T>A; p.Y338N; 12:114356077-114356077

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1249C>T; p.P417S; 12:114355840-114355840

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1394C>T; p.P465L; 12:114355695-114355695

 skinmalignant_melanomaSubstitution - Missense

c.175C>T; p.H59Y; 12:114401893-114401893

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.1422T>G; p.T474T; 12:114355667-114355667

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.15C>T; p.D5D; 12:114403884-114403884

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.15C>T; p.D5D; 12:114403884-114403884

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.518T>C; p.L173P; 12:114394886-114394886

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.518T>C; p.L173P; 12:114394886-114394886

 upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.954C>A; p.S318R; 12:114366193-114366193

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.310A>G; p.M104V; 12:114399565-114399565

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.999C>A; p.T333T; 12:114356090-114356090

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1476C>T; p.G492G; 12:114355613-114355613

 central_nervous_system; braingliomaSubstitution - coding silent

c.294G>A; p.T98T; 12:114399581-114399581

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1308_1309CC>TT; p.P437S; 12:114355780-114355781

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.511-2A>G; p.?; 12:114394895-114394895

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.1453C>T; p.P485S; 12:114355636-114355636

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.147G>A; p.Q49Q; 12:114403752-114403752

 skinmalignant_melanomaSubstitution - coding silent

c.1434C>T; p.S478S; 12:114355655-114355655

 skinmalignant_melanomaSubstitution - coding silent

c.477G>T; p.K159N; 12:114398606-114398606

 ovaryother; neoplasmSubstitution - Missense

c.477G>T; p.K159N; 12:114398606-114398606

 ovaryother; neoplasmSubstitution - Missense

c.1023C>A; p.P341P; 12:114356066-114356066

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.304C>A; p.L102I; 12:114399571-114399571

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1139A>G; p.Y380C; 12:114355950-114355950

 livercarcinomaSubstitution - Missense

c.946G>A; p.E316K; 12:114366201-114366201

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.768delC; p.V257fs*7; 12:114366379-114366379

 lungcarcinoma; small_cell_carcinomaDeletion - Frameshift

c.887G>T; p.G296V; 12:114366260-114366260

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.953G>A; p.S318N; 12:114366194-114366194

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1317G>C; p.L439L; 12:114355772-114355772

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.590A>G; p.K197R; 12:114394814-114394814

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1411_1412GG>TT; p.G471>?; 12:114355677-114355678

 lungcarcinoma; adenocarcinomaComplex

c.692C>A; p.P231H; 12:114385539-114385539

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.985G>A; p.E329K; 12:114356104-114356104

 skin; abdomenmalignant_melanomaSubstitution - Missense

c.1006C>T; p.H336Y; 12:114356083-114356083

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1295C>T; p.S432L; 12:114355794-114355794

 breastcarcinomaSubstitution - Missense

c.1295C>T; p.S432L; 12:114355794-114355794

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1295C>T; p.S432L; 12:114355794-114355794

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.447G>A; p.M149I; 12:114398636-114398636

 ovaryother; neoplasmSubstitution - Missense

c.32C>T; p.A11V; 12:114403867-114403867

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.32C>T; p.A11V; 12:114403867-114403867

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.32C>T; p.A11V; 12:114403867-114403867

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.275C>A; p.T92K; 12:114399600-114399600

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.167T>C; p.V56A; 12:114401901-114401901

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1188C>T; p.I396I; 12:114355901-114355901

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1501C>G; p.Q501E; 12:114355588-114355588

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.348C>T; p.F116F; 12:114399527-114399527

 skinmalignant_melanomaSubstitution - coding silent

c.122C>T; p.S41F; 12:114403777-114403777

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.867C>T; p.S289S; 12:114366280-114366280

 lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.1368G>A; p.Q456Q; 12:114355721-114355721

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.921A>T; p.P307P; 12:114366226-114366226

 breastcarcinomaSubstitution - coding silent

c.172C>T; p.L58F; 12:114401896-114401896

 skinmalignant_melanomaSubstitution - Missense

c.836G>T; p.R279L; 12:114366311-114366311

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.974A>T; p.K325M; 12:114366173-114366173

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1352G>T; p.G451V; 12:114355737-114355737

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1350G>A; p.L450L; 12:114355739-114355739

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.1127A>T; p.Q376L; 12:114355962-114355962

 ovaryother; neoplasmSubstitution - Missense

c.718G>A; p.D240N; 12:114385513-114385513

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.541C>G; p.P181A; 12:114394863-114394863

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.620C>A; p.P207H; 12:114394784-114394784

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1422T>C; p.T474T; 12:114355667-114355667

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.1318G>T; p.A440S; 12:114355771-114355771

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

c.55G>C; p.A19P; 12:114403844-114403844

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1250C>T; p.P417L; 12:114355839-114355839

 skinmalignant_melanomaSubstitution - Missense

c.1234G>A; p.V412I; 12:114355855-114355855

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.338G>A; p.R113K; 12:114399537-114399537

 skinmalignant_melanomaSubstitution - Missense

c.584G>C; p.G195A; 12:114394820-114394820

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.112T>C; p.S38P; 12:114403787-114403787

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1440C>T; p.G480G; 12:114355649-114355649

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.389C>T; p.A130V; 12:114398694-114398694

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.373G>T; p.G125C; 12:114398710-114398710

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1115C>T; p.S372L; 12:114355974-114355974

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.928C>G; p.P310A; 12:114366219-114366219

 kidneyother; neoplasmSubstitution - Missense

c.210G>A; p.V70V; 12:114401858-114401858

 livercarcinomaSubstitution - coding silent

c.1221C>A; p.Y407*; 12:114355868-114355868

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1462C>A; p.L488I; 12:114355627-114355627

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1435C>T; p.P479S; 12:114355654-114355654

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1185C>T; p.D395D; 12:114355904-114355904

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.16G>T; p.E6*; 12:114403883-114403883

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.976A>G; p.R326G; 12:114366171-114366171

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.468G>A; p.Q156Q; 12:114398615-114398615

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1340C>T; p.S447F; 12:114355749-114355749

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.28C>A; p.L10M; 12:114403871-114403871

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.182G>A; p.R61K; 12:114401886-114401886

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

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