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

Basic Information

Gene ID

5331

Name

PLCB3

Synonymous

phospholipase C, beta 3 (phosphatidylinositol-specific);PLCB3;phospholipase C, beta 3 (phosphatidylinositol-specific)

Definition

1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3|PLC beta 3|PLC-beta-3|phosphoinositide phospholipase C-beta-3

Position

11q13

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 0.14.

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.1161G>A; p.V387V; 11:64258621-64258621

bone; femurEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.227G>A; p.R76Q; 11:64254797-64254797

breastcarcinomaSubstitution - Missense

c.1133C>T; p.T378I; 11:64258593-64258593

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1913+4T>A; p.?; 11:64261669-64261669

central_nervous_system; brainglioma; astrocytoma_Grade_IVUnknown

c.1369C>T; p.Q457*; 11:64259088-64259088

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.781G>A; p.E261K; 11:64256458-64256458

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1288C>T; p.R430C; 11:64258919-64258919

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2269G>A; p.D757N; 11:64262722-64262722

breastcarcinomaSubstitution - Missense

c.366C>T; p.A122A; 11:64255017-64255017

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.366C>T; p.A122A; 11:64255017-64255017

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.711C>A; p.G237G; 11:64256388-64256388

thyroidother; neoplasmSubstitution - coding silent

c.1763A>T; p.E588V; 11:64261431-64261431

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.978C>A; p.Y326*; 11:64256730-64256730

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.1212G>A; p.S404S; 11:64258672-64258672

thyroidother; neoplasmSubstitution - coding silent

c.2454C>T; p.S818S; 11:64263596-64263596

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1711delA; p.K572fs*13; 11:64260214-64260214

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.113G>T; p.R38L; 11:64254428-64254428

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2160G>A; p.V720V; 11:64262528-64262528

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2947C>T; p.R983W; 11:64265414-64265414

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1278T>G; p.A426A; 11:64258909-64258909

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1266G>T; p.Q422H; 11:64258897-64258897

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1278T>G; p.A426A; 11:64258909-64258909

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1140C>T; p.G380G; 11:64258600-64258600

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.606C>T; p.S202S; 11:64255729-64255729

skinmalignant_melanomaSubstitution - coding silent

c.3588G>A; p.P1196P; 11:64267439-64267439

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3606G>A; p.G1202G; 11:64267457-64267457

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.3606G>A; p.G1202G; 11:64267457-64267457

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2058C>T; p.N686N; 11:64262426-64262426

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2058C>T; p.N686N; 11:64262426-64262426

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3543G>A; p.A1181A; 11:64267394-64267394

livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.3071G>A; p.G1024E; 11:64265921-64265921

pancreasNSSubstitution - Missense

c.2401G>T; p.E801*; 11:64263543-64263543

pituitary; craniopharyngeal_ductcraniopharyngioma; adamantinomatousSubstitution - Nonsense

c.2065G>A; p.V689I; 11:64262433-64262433

pancreascarcinomaSubstitution - Missense

c.3365C>G; p.T1122R; 11:64266503-64266503

urinary_tract; bladdercarcinomaSubstitution - Missense

c.314C>T; p.T105M; 11:64254965-64254965

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.298G>T; p.E100*; 11:64254949-64254949

lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.314C>T; p.T105M; 11:64254965-64254965

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.140C>A; p.P47H; 11:64254455-64254455

urinary_tract; bladdercarcinomaSubstitution - Missense

c.127C>T; p.L43L; 11:64254442-64254442

skinmalignant_melanomaSubstitution - coding silent

c.1232C>T; p.S411F; 11:64258692-64258692

skinmalignant_melanomaSubstitution - Missense

c.673G>A; p.D225N; 11:64255796-64255796

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1232C>T; p.S411F; 11:64258692-64258692

skinmalignant_melanomaSubstitution - Missense

c.1232C>T; p.S411F; 11:64258692-64258692

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.474G>A; p.T158T; 11:64255402-64255402

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2022C>T; p.L674L; 11:64262060-64262060

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.159C>G; p.Y53*; 11:64254474-64254474

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.3466C>T; p.Q1156*; 11:64267236-64267236

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Nonsense

c.1845C>T; p.F615F; 11:64261597-64261597

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1845C>T; p.F615F; 11:64261597-64261597

breastcarcinomaSubstitution - coding silent

c.1356C>T; p.P452P; 11:64259075-64259075

NSmalignant_melanomaSubstitution - coding silent

c.1356C>T; p.P452P; 11:64259075-64259075

NSmalignant_melanomaSubstitution - coding silent

c.765C>T; p.R255R; 11:64256442-64256442

prostatecarcinomaSubstitution - coding silent

c.1610C>G; p.S537C; 11:64260113-64260113

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.667C>T; p.R223W; 11:64255790-64255790

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1092C>T; p.D364D; 11:64258552-64258552

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2302C>T; p.Q768*; 11:64262755-64262755

urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.2302C>T; p.Q768*; 11:64262755-64262755

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.2481C>T; p.N827N; 11:64263716-64263716

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2335G>T; p.E779*; 11:64262788-64262788

breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Nonsense

c.1211C>T; p.S404L; 11:64258671-64258671

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1958G>A; p.R653H; 11:64261996-64261996

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.830A>G; p.E277G; 11:64256507-64256507

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3057G>T; p.E1019D; 11:64265907-64265907

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2061G>A; p.A687A; 11:64262429-64262429

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.3185G>T; p.R1062I; 11:64266035-64266035

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2568G>A; p.A856A; 11:64264028-64264028

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; Burkitt_lymphomaSubstitution - coding silent

c.2349C>T; p.F783F; 11:64262802-64262802

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2955A>G; p.A985A; 11:64265422-64265422

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2459A>T; p.Y820F; 11:64263694-64263694

livercarcinomaSubstitution - Missense

c.2459A>T; p.Y820F; 11:64263694-64263694

livercarcinomaSubstitution - Missense

c.1227C>T; p.I409I; 11:64258687-64258687

skinmalignant_melanomaSubstitution - coding silent

c.891C>T; p.S297S; 11:64256643-64256643

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.585C>T; p.L195L; 11:64255604-64255604

skinmalignant_melanomaSubstitution - coding silent

c.2149G>A; p.E717K; 11:64262517-64262517

urinary_tract; bladdercarcinomaSubstitution - Missense

c.2535G>C; p.S845S; 11:64263770-64263770

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - coding silent

c.2083C>T; p.R695C; 11:64262451-64262451

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1826G>A; p.R609Q; 11:64261494-64261494

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2339_2340CC>TT; p.P780L; 11:64262792-64262793

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2852C>T; p.P951L; 11:64265319-64265319

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2083C>T; p.R695C; 11:64262451-64262451

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2280C>T; p.R760R; 11:64262733-64262733

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2725A>C; p.T909P; 11:64265023-64265023

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2725A>C; p.T909P; 11:64265023-64265023

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.598-9G>T; p.?; 11:64255712-64255712

pancreascarcinomaUnknown

c.3387C>T; p.I1129I; 11:64266525-64266525

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.818G>A; p.R273Q; 11:64256495-64256495

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.3387C>T; p.I1129I; 11:64266525-64266525

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.2217C>T; p.S739S; 11:64262670-64262670

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2217C>T; p.S739S; 11:64262670-64262670

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.2275C>T; p.R759W; 11:64262728-64262728

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2275C>T; p.R759W; 11:64262728-64262728

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2275C>T; p.R759W; 11:64262728-64262728

large_intestine; coloncarcinomaSubstitution - Missense

c.2275C>T; p.R759W; 11:64262728-64262728

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.922C>T; p.L308L; 11:64256674-64256674

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1494C>T; p.S498S; 11:64259213-64259213

breastcarcinomaSubstitution - coding silent

c.1494C>T; p.S498S; 11:64259213-64259213

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1494C>T; p.S498S; 11:64259213-64259213

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1494C>T; p.S498S; 11:64259213-64259213

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.3252A>T; p.K1084N; 11:64266188-64266188

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1494C>T; p.S498S; 11:64259213-64259213

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1494C>T; p.S498S; 11:64259213-64259213

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1494C>T; p.S498S; 11:64259213-64259213

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1494C>T; p.S498S; 11:64259213-64259213

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.896A>G; p.Y299C; 11:64256648-64256648

skinmalignant_melanomaSubstitution - Missense

c.1932C>T; p.L644L; 11:64261970-64261970

skinmalignant_melanomaSubstitution - coding silent

c.2804C>T; p.P935L; 11:64265102-64265102

urinary_tract; bladdercarcinomaSubstitution - Missense

c.3214G>A; p.V1072I; 11:64266150-64266150

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2384G>A; p.R795H; 11:64263526-64263526

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.659T>G; p.L220R; 11:64255782-64255782

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.3256A>C; p.M1086L; 11:64266192-64266192

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2119C>T; p.R707W; 11:64262487-64262487

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2119C>T; p.R707W; 11:64262487-64262487

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2262C>T; p.L754L; 11:64262715-64262715

skinmalignant_melanomaSubstitution - coding silent

c.822G>A; p.L274L; 11:64256499-64256499

livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.822G>A; p.L274L; 11:64256499-64256499

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.977A>G; p.Y326C; 11:64256729-64256729

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1469G>A; p.S490N; 11:64259188-64259188

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1124C>T; p.P375L; 11:64258584-64258584

skinmalignant_melanomaSubstitution - Missense

c.627C>T; p.S209S; 11:64255750-64255750

skinmalignant_melanomaSubstitution - coding silent

c.2737C>T; p.L913L; 11:64265035-64265035

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2595C>T; p.H865H; 11:64264055-64264055

ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.2595C>T; p.H865H; 11:64264055-64264055

oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.131G>A; p.R44H; 11:64254446-64254446

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.643C>T; p.R215W; 11:64255766-64255766

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.643C>T; p.R215W; 11:64255766-64255766

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1448G>A; p.R483H; 11:64259167-64259167

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1448G>A; p.R483H; 11:64259167-64259167

thyroidother; neoplasmSubstitution - Missense

c.1448G>A; p.R483H; 11:64259167-64259167

thyroidother; neoplasmSubstitution - Missense

c.2567C>T; p.A856V; 11:64264027-64264027

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.1745G>T; p.S582I; 11:64261413-64261413

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2567C>T; p.A856V; 11:64264027-64264027

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2860C>T; p.L954L; 11:64265327-64265327

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1372G>T; p.D458Y; 11:64259091-64259091

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.512C>T; p.P171L; 11:64255440-64255440

skinmalignant_melanomaSubstitution - Missense

c.2753G>C; p.R918P; 11:64265051-64265051

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2872C>T; p.R958*; 11:64265339-64265339

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1876A>G; p.M626V; 11:64261628-64261628

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2753G>C; p.R918P; 11:64265051-64265051

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2753G>C; p.R918P; 11:64265051-64265051

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1192G>T; p.E398*; 11:64258652-64258652

lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1248G>T; p.V416V; 11:64258708-64258708

skinmalignant_melanomaSubstitution - coding silent

c.906C>T; p.G302G; 11:64256658-64256658

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1247T>C; p.V416A; 11:64258707-64258707

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1634G>A; p.R545Q; 11:64260137-64260137

oesophaguscarcinomaSubstitution - Missense

c.2922G>A; p.L974L; 11:64265389-64265389

prostatecarcinomaSubstitution - coding silent

c.2857C>T; p.P953S; 11:64265324-64265324

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.834G>C; p.K278N; 11:64256511-64256511

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.335C>T; p.P112L; 11:64254986-64254986

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.591C>T; p.F197F; 11:64255610-64255610

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.2231G>A; p.G744D; 11:64262684-64262684

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2747delC; p.R918fs*95; 11:64265045-64265045

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.2747delC; p.R918fs*95; 11:64265045-64265045

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.3079G>A; p.E1027K; 11:64265929-64265929

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.951G>A; p.T317T; 11:64256703-64256703

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.97G>A; p.E33K; 11:64251746-64251746

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2120G>A; p.R707Q; 11:64262488-64262488

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1629G>T; p.L543L; 11:64260132-64260132

livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.1669G>T; p.D557Y; 11:64260172-64260172

oesophaguscarcinomaSubstitution - Missense

c.921C>T; p.I307I; 11:64256673-64256673

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.708_709GG>AA; p.G237S; 11:64256385-64256386

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.887T>G; p.F296C; 11:64256639-64256639

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2748C>T; p.S916S; 11:64265046-64265046

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.887T>G; p.F296C; 11:64256639-64256639

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1223T>C; p.V408A; 11:64258683-64258683

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1747G>A; p.E583K; 11:64261415-64261415

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2828C>T; p.A943V; 11:64265213-64265213

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3690G>A; p.E1230E; 11:64267541-64267541

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.2173G>A; p.A725T; 11:64262541-64262541

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.273C>T; p.G91G; 11:64254924-64254924

skinmalignant_melanomaSubstitution - coding silent

c.2383delC; p.R795fs*12; 11:64263525-64263525

prostatecarcinomaDeletion - Frameshift

c.2285A>G; p.Y762C; 11:64262738-64262738

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2116C>T; p.R706W; 11:64262484-64262484

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.2566G>A; p.A856T; 11:64264026-64264026

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3601G>T; p.D1201Y; 11:64267452-64267452

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2632G>A; p.A878T; 11:64264092-64264092

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1093G>A; p.V365M; 11:64258553-64258553

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1080C>T; p.C360C; 11:64258540-64258540

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.828C>T; p.I276I; 11:64256505-64256505

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1854G>A; p.S618S; 11:64261606-64261606

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.467C>T; p.A156V; 11:64255313-64255313

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3365C>A; p.T1122K; 11:64266503-64266503

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1213C>G; p.P405A; 11:64258673-64258673

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.764G>A; p.R255H; 11:64256441-64256441

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.829G>A; p.E277K; 11:64256506-64256506

endometriumcarcinoma; serous_carcinomaSubstitution - Missense

c.473C>T; p.T158M; 11:64255401-64255401

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2551G>A; p.D851N; 11:64263786-64263786

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2137G>A; p.D713N; 11:64262505-64262505

thyroidother; neoplasmSubstitution - Missense

c.709G>T; p.G237C; 11:64256386-64256386

thyroidother; neoplasmSubstitution - Missense

c.2507C>T; p.P836L; 11:64263742-64263742

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1108C>T; p.P370S; 11:64258568-64258568

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1108C>T; p.P370S; 11:64258568-64258568

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.3291C>G; p.I1097M; 11:64266339-64266339

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.3233C>A; p.T1078N; 11:64266169-64266169

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1125C>A; p.P375P; 11:64258585-64258585

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2923C>T; p.R975W; 11:64265390-64265390

breastcarcinomaSubstitution - Missense

c.1771T>G; p.S591A; 11:64261439-64261439

thyroidcarcinomaSubstitution - Missense

c.2958C>T; p.V986V; 11:64265425-64265425

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.2206C>T; p.Q736*; 11:64262659-64262659

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.107C>T; p.S36F; 11:64254422-64254422

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1422C>T; p.S474S; 11:64259141-64259141

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2527G>A; p.E843K; 11:64263762-64263762

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1959C>T; p.R653R; 11:64261997-64261997

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1791C>T; p.I597I; 11:64261459-64261459

skinmalignant_melanomaSubstitution - coding silent

c.1128C>G; p.F376L; 11:64258588-64258588

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2343C>T; p.F781F; 11:64262796-64262796

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2079C>T; p.N693N; 11:64262447-64262447

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1293C>G; p.S431S; 11:64258924-64258924

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.130C>T; p.R44C; 11:64254445-64254445

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.130C>T; p.R44C; 11:64254445-64254445

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1076G>A; p.R359H; 11:64258536-64258536

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1076G>A; p.R359H; 11:64258536-64258536

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1553G>T; p.G518V; 11:64260056-64260056

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1317C>T; p.I439I; 11:64258948-64258948

pituitary; craniopharyngeal_ductcraniopharyngioma; adamantinomatousSubstitution - coding silent

c.1098G>A; p.W366*; 11:64258558-64258558

breastcarcinomaSubstitution - Nonsense

c.1047G>A; p.M349I; 11:64258507-64258507

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.581G>T; p.G194V; 11:64255600-64255600

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1029G>T; p.G343G; 11:64258489-64258489

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1029G>T; p.G343G; 11:64258489-64258489

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.3274A>T; p.K1092*; 11:64266322-64266322

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.260G>A; p.R87Q; 11:64254911-64254911

urinary_tract; bladdercarcinomaSubstitution - Missense

c.3532G>A; p.E1178K; 11:64267383-64267383

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.554G>T; p.R185L; 11:64255573-64255573

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3379C>T; p.R1127W; 11:64266517-64266517

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1778T>G; p.L593R; 11:64261446-64261446

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1442C>T; p.A481V; 11:64259161-64259161

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2629G>T; p.A877S; 11:64264089-64264089

skinmalignant_melanomaSubstitution - Missense


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