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

Basic Information

Gene ID

5795

Name

PTPRJ

Synonymous

protein tyrosine phosphatase, receptor type, J;PTPRJ;protein tyrosine phosphatase, receptor type, J

Definition

CD148 antigen|DEP-1|HPTP eta|R-PTP-J|density-enhanced phosphatase 1|human density enhanced phosphatase-1|protein tyrosine phosphatase, receptor type, J polypeptide|protein-tyrosine phosphatase eta|protein-tyrosine phosphatase receptor type J|receptor-type

Position

11p11.2

Gene Type

protein-coding

Mutation summary:

Mutations in domains
Mutational pattern in 17 major cancer types
LoF vs missense mutations
All the copy number variations from COSMIC database V72
All the mutations from COSMIC database V72

Mutation summary in protein domains

Top

We used uniprot protein structure data from ensemble BioMart database. The size of circle shows the relative mutation number.

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Top

The non-synonymous mutational pattern in 17 major cancer types.
The synonymous mutational pattern in 17 major cancer types.

Loss of Function mutations compare to missense mutations

Top

Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.03.

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.1484G>A; p.R495Q; 11:48130585-48130585

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.279C>T; p.N93N; 11:48112910-48112910

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.700G>A; p.A234T; 11:48123696-48123696

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2213T>C; p.L738P; 11:48139546-48139546

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2790T>C; p.A930A; 11:48145003-48145003

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.816G>A; p.P272P; 11:48123812-48123812

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.2790T>C; p.A930A; 11:48145003-48145003

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.362C>T; p.P121L; 11:48121012-48121012

 skinmalignant_melanomaSubstitution - Missense

c.3051A>T; p.K1017N; 11:48150096-48150096

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.2790T>C; p.A930A; 11:48145003-48145003

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3051A>T; p.K1017N; 11:48150096-48150096

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.2790T>C; p.A930A; 11:48145003-48145003

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3051A>T; p.K1017N; 11:48150096-48150096

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.2446C>T; p.P816S; 11:48142921-48142921

 skinmalignant_melanomaSubstitution - Missense

c.2976C>A; p.G992G; 11:48146940-48146940

 pancreascarcinomaSubstitution - coding silent

c.3539G>T; p.R1180I; 11:48160030-48160030

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3668G>A; p.R1223H; 11:48163567-48163567

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.766C>T; p.Q256*; 11:48123762-48123762

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Nonsense

c.1008G>T; p.E336D; 11:48125101-48125101

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.766C>T; p.Q256*; 11:48123762-48123762

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.3534C>A; p.T1178T; 11:48160025-48160025

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2617G>A; p.D873N; 11:48144716-48144716

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2617G>A; p.D873N; 11:48144716-48144716

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3628G>A; p.D1210N; 11:48163527-48163527

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1600G>C; p.V534L; 11:48130701-48130701

 pancreascarcinomaSubstitution - Missense

c.1114G>A; p.V372I; 11:48127800-48127800

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1114G>A; p.V372I; 11:48127800-48127800

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.3281A>G; p.Y1094C; 11:48155852-48155852

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.3281A>G; p.Y1094C; 11:48155852-48155852

 livercarcinomaSubstitution - Missense

c.595A>G; p.R199G; 11:48121245-48121245

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1457T>C; p.I486T; 11:48130558-48130558

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.3824G>A; p.R1275Q; 11:48164484-48164484

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.160G>C; p.G54R; 11:48112791-48112791

 breastcarcinomaSubstitution - Missense

c.1094-1G>T; p.?; 11:48127779-48127779

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.2975G>A; p.G992D; 11:48146939-48146939

 skinmalignant_melanomaSubstitution - Missense

c.1114G>C; p.V372L; 11:48127800-48127800

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1995A>G; p.G665G; 11:48137124-48137124

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.839C>T; p.T280I; 11:48123835-48123835

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1204C>T; p.H402Y; 11:48127890-48127890

 breastcarcinomaSubstitution - Missense

c.3842T>A; p.M1281K; 11:48164502-48164502

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2438_2440delTCA; p.I813delI; 11:48139771-48139773

 large_intestine; coloncarcinomaDeletion - In frame

c.618G>A; p.E206E; 11:48123614-48123614

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.618G>A; p.E206E; 11:48123614-48123614

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.2788G>T; p.A930S; 11:48145001-48145001

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3972G>A; p.A1324A; 11:48167320-48167320

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2752T>C; p.Y918H; 11:48144851-48144851

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2758G>T; p.G920W; 11:48144857-48144857

 skinmalignant_melanomaSubstitution - Missense

c.3972G>A; p.A1324A; 11:48167320-48167320

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.3971C>T; p.A1324V; 11:48167319-48167319

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3971C>T; p.A1324V; 11:48167319-48167319

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.920C>A; p.P307H; 11:48125013-48125013

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3044C>T; p.P1015L; 11:48149992-48149992

 skinmalignant_melanomaSubstitution - Missense

c.709C>T; p.R237W; 11:48123705-48123705

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1264C>T; p.P422S; 11:48127950-48127950

 skinmalignant_melanomaSubstitution - Missense

c.3537C>T; p.I1179I; 11:48160028-48160028

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.3351G>A; p.P1117P; 11:48156032-48156032

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.3537C>T; p.I1179I; 11:48160028-48160028

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.1999T>C; p.S667P; 11:48137128-48137128

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2343G>A; p.T781T; 11:48139676-48139676

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1010C>T; p.P337L; 11:48125103-48125103

 skinmalignant_melanomaSubstitution - Missense

c.2982C>T; p.I994I; 11:48146946-48146946

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1918G>A; p.A640T; 11:48137047-48137047

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.621G>A; p.P207P; 11:48123617-48123617

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1403C>T; p.T468M; 11:48130504-48130504

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.629T>C; p.V210A; 11:48123625-48123625

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3770A>G; p.Y1257C; 11:48164430-48164430

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2043C>T; p.D681D; 11:48137172-48137172

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.2357C>T; p.S786F; 11:48139690-48139690

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4002T>C; p.G1334G; 11:48167350-48167350

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.3971C>A; p.A1324E; 11:48167319-48167319

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1467G>A; p.E489E; 11:48130568-48130568

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.105C>T; p.C35C; 11:48110066-48110066

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1839C>T; p.V613V; 11:48136262-48136262

 skinmalignant_melanomaSubstitution - coding silent

c.3553A>G; p.K1185E; 11:48160044-48160044

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1532C>A; p.P511H; 11:48130633-48130633

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3437G>C; p.R1146T; 11:48156118-48156118

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1148C>A; p.T383N; 11:48127834-48127834

 livercarcinomaSubstitution - Missense

c.3715T>C; p.C1239R; 11:48163614-48163614

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3503T>C; p.M1168T; 11:48159994-48159994

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.526T>G; p.L176V; 11:48121176-48121176

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.2236G>A; p.A746T; 11:48139569-48139569

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.3051A>G; p.K1017K; 11:48150096-48150096

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2789C>T; p.A930V; 11:48145002-48145002

 kidneycarcinomaSubstitution - Missense

c.2336A>T; p.E779V; 11:48139669-48139669

 skinmalignant_melanomaSubstitution - Missense

c.3848A>T; p.Q1283L; 11:48164508-48164508

 livercarcinomaSubstitution - Missense

c.3848A>T; p.Q1283L; 11:48164508-48164508

 livercarcinomaSubstitution - Missense

c.1841delG; p.D616fs*19; 11:48136264-48136264

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1901T>C; p.V634A; 11:48137030-48137030

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3014A>C; p.N1005T; 11:48149461-48149461

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1901T>C; p.V634A; 11:48137030-48137030

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.3294C>T; p.N1098N; 11:48155865-48155865

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3793G>T; p.V1265L; 11:48164453-48164453

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.3980C>T; p.T1327I; 11:48167328-48167328

 skinmalignant_melanomaSubstitution - Missense

c.2056G>A; p.E686K; 11:48137185-48137185

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1945G>A; p.D649N; 11:48137074-48137074

 skinmalignant_melanomaSubstitution - Missense

c.3072G>A; p.E1024E; 11:48150117-48150117

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1957C>T; p.P653S; 11:48137086-48137086

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1693G>A; p.G565S; 11:48136116-48136116

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1822C>G; p.P608A; 11:48136245-48136245

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3209G>A; p.R1070H; 11:48153866-48153866

 breastcarcinomaSubstitution - Missense

c.1113C>T; p.D371D; 11:48127799-48127799

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.617A>G; p.E206G; 11:48123613-48123613

 ovaryother; neoplasmSubstitution - Missense

c.2228C>A; p.P743H; 11:48139561-48139561

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.916G>A; p.A306T; 11:48125009-48125009

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.916G>A; p.A306T; 11:48125009-48125009

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.916G>A; p.A306T; 11:48125009-48125009

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3667C>T; p.R1223C; 11:48163566-48163566

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.3315C>T; p.S1105S; 11:48155996-48155996

 skinmalignant_melanomaSubstitution - coding silent

c.2544A>T; p.K848N; 11:48143019-48143019

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.3914C>A; p.S1305*; 11:48167262-48167262

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.205C>A; p.H69N; 11:48112836-48112836

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.3701C>T; p.P1234L; 11:48163600-48163600

 skinmalignant_melanomaSubstitution - Missense

c.1307C>A; p.P436H; 11:48127993-48127993

 livercarcinomaSubstitution - Missense

c.1331C>T; p.T444M; 11:48128017-48128017

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.193G>A; p.A65T; 11:48112824-48112824

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1018C>A; p.R340R; 11:48125111-48125111

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.739G>A; p.E247K; 11:48123735-48123735

 skinmalignant_melanomaSubstitution - Missense

c.3125C>T; p.A1042V; 11:48150170-48150170

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2000C>T; p.S667F; 11:48137129-48137129

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.3752C>A; p.A1251D; 11:48164412-48164412

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.295C>T; p.P99S; 11:48112926-48112926

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.977G>A; p.R326Q; 11:48125070-48125070

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1714C>T; p.H572Y; 11:48136137-48136137

 skinmalignant_melanomaSubstitution - Missense

c.1549T>C; p.F517L; 11:48130650-48130650

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1714C>T; p.H572Y; 11:48136137-48136137

 skinmalignant_melanomaSubstitution - Missense

c.1714C>T; p.H572Y; 11:48136137-48136137

 skinmalignant_melanomaSubstitution - Missense

c.3735G>C; p.R1245S; 11:48164395-48164395

 skinmalignant_melanomaSubstitution - Missense

c.1179G>A; p.S393S; 11:48127865-48127865

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.3925C>T; p.L1309F; 11:48167273-48167273

 salivary_glandcarcinoma; adenoid_cystic_carcinomaSubstitution - Missense

c.256G>A; p.D86N; 11:48112887-48112887

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1537A>G; p.T513A; 11:48130638-48130638

 central_nervous_system; braingliomaSubstitution - Missense

c.2436_2438delCAT; p.I813delI; 11:48139769-48139771

 large_intestinecarcinoma; adenocarcinomaDeletion - In frame

c.3374G>A; p.R1125H; 11:48156055-48156055

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3242G>A; p.R1081H; 11:48155813-48155813

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3374G>A; p.R1125H; 11:48156055-48156055

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1030A>C; p.T344P; 11:48125123-48125123

 breastcarcinomaSubstitution - Missense

c.1962G>A; p.T654T; 11:48137091-48137091

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2008G>A; p.A670T; 11:48137137-48137137

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3694G>A; p.E1232K; 11:48163593-48163593

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.433G>A; p.A145T; 11:48121083-48121083

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1167C>T; p.S389S; 11:48127853-48127853

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.2504T>C; p.V835A; 11:48142979-48142979

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2286G>A; p.A762A; 11:48139619-48139619

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2286G>A; p.A762A; 11:48139619-48139619

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1265C>T; p.P422L; 11:48127951-48127951

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1562C>T; p.P521L; 11:48130663-48130663

 skin; legmalignant_melanomaSubstitution - Missense

c.3702G>A; p.P1234P; 11:48163601-48163601

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.773A>G; p.N258S; 11:48123769-48123769

 skinmalignant_melanomaSubstitution - Missense

c.2155C>T; p.P719S; 11:48139488-48139488

 skin; shouldermalignant_melanomaSubstitution - Missense

c.3959A>C; p.Y1320S; 11:48167307-48167307

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.3385G>T; p.E1129*; 11:48156066-48156066

 skinmalignant_melanomaSubstitution - Nonsense

c.2868C>T; p.S956S; 11:48145081-48145081

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1650C>T; p.Y550Y; 11:48136073-48136073

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2426G>A; p.C809Y; 11:48139759-48139759

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1348G>C; p.V450L; 11:48128034-48128034

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.3068T>C; p.V1023A; 11:48150113-48150113

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1018C>T; p.R340*; 11:48125111-48125111

 bone; tibiaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Nonsense

c.827A>C; p.Q276P; 11:48123823-48123823

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.827A>C; p.Q276P; 11:48123823-48123823

 skinmalignant_melanomaSubstitution - Missense

c.827A>C; p.Q276P; 11:48123823-48123823

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.3285C>G; p.I1095M; 11:48155856-48155856

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2242G>T; p.A748S; 11:48139575-48139575

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.899G>T; p.R300L; 11:48124992-48124992

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2253G>A; p.E751E; 11:48139586-48139586

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.1401G>A; p.T467T; 11:48130502-48130502

 prostatecarcinomaSubstitution - coding silent

c.2461G>A; p.G821R; 11:48142936-48142936

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.2182G>A; p.E728K; 11:48139515-48139515

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2182G>A; p.E728K; 11:48139515-48139515

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1115T>C; p.V372A; 11:48127801-48127801

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.3230-1G>C; p.?; 11:48155800-48155800

 stomachcarcinoma; adenocarcinomaUnknown

c.1571C>T; p.P524L; 11:48130672-48130672

 soft_tissue; striated_musclerhabdomyosarcoma; embryonalSubstitution - Missense

c.1060G>T; p.E354*; 11:48125153-48125153

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.2274C>T; p.A758A; 11:48139607-48139607

 skinmalignant_melanomaSubstitution - coding silent

c.1741T>G; p.S581A; 11:48136164-48136164

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2044G>A; p.A682T; 11:48137173-48137173

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1896T>C; p.I632I; 11:48137025-48137025

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1012G>A; p.G338S; 11:48125105-48125105

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1168G>C; p.D390H; 11:48127854-48127854

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3543T>A; p.D1181E; 11:48160034-48160034

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.2854G>A; p.E952K; 11:48145067-48145067

 breastcarcinomaSubstitution - Missense

c.1000G>T; p.G334W; 11:48125093-48125093

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.189T>C; p.S63S; 11:48112820-48112820

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.189T>C; p.S63S; 11:48112820-48112820

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1653C>A; p.V551V; 11:48136076-48136076

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1759T>C; p.Y587H; 11:48136182-48136182

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1149C>T; p.T383T; 11:48127835-48127835

 livercarcinomaSubstitution - coding silent

c.3136G>A; p.E1046K; 11:48150181-48150181

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1877C>T; p.P626L; 11:48137006-48137006

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1395C>T; p.V465V; 11:48130496-48130496

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1395C>T; p.V465V; 11:48130496-48130496

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2439C>T; p.I813I; 11:48139772-48139772

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1610G>T; p.R537I; 11:48130711-48130711

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3499G>T; p.A1167S; 11:48159990-48159990

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.232C>G; p.Q78E; 11:48112863-48112863

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1793C>T; p.P598L; 11:48136216-48136216

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1793C>T; p.P598L; 11:48136216-48136216

 skinmalignant_melanomaSubstitution - Missense

c.1955C>T; p.S652F; 11:48137084-48137084

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1688C>T; p.P563L; 11:48136111-48136111

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3373C>T; p.R1125C; 11:48156054-48156054

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2152G>T; p.D718Y; 11:48137281-48137281

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3373C>T; p.R1125C; 11:48156054-48156054

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2550T>C; p.Y850Y; 11:48143025-48143025

 breastcarcinomaSubstitution - coding silent

c.3520C>T; p.L1174F; 11:48160011-48160011

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.106G>T; p.A36S; 11:48110067-48110067

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.882C>A; p.S294R; 11:48124975-48124975

 livercarcinomaSubstitution - Missense

c.1639C>T; p.H547Y; 11:48136062-48136062

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2314A>G; p.N772D; 11:48139647-48139647

 stomachadenocarcinomaSubstitution - Missense

c.563C>T; p.P188L; 11:48121213-48121213

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2272G>A; p.A758T; 11:48139605-48139605

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1561C>A; p.P521T; 11:48130662-48130662

 skin; legmalignant_melanomaSubstitution - Missense

c.1277C>T; p.S426F; 11:48127963-48127963

 thyroidcarcinoma; medullary_carcinomaSubstitution - Missense

c.353-1G>T; p.?; 11:48121002-48121002

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.1419A>G; p.A473A; 11:48130520-48130520

 bone; tibiaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1373C>T; p.S458F; 11:48130474-48130474

 skinmalignant_melanomaSubstitution - Missense

c.734G>A; p.S245N; 11:48123730-48123730

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.106G>A; p.A36T; 11:48110067-48110067

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3192G>T; p.E1064D; 11:48153849-48153849

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1532C>T; p.P511L; 11:48130633-48130633

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.959C>T; p.S320F; 11:48125052-48125052

 breastcarcinomaSubstitution - Missense

c.468G>T; p.K156N; 11:48121118-48121118

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2424C>G; p.T808T; 11:48139757-48139757

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.1619C>T; p.P540L; 11:48136042-48136042

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2453C>G; p.P818R; 11:48142928-48142928

 breastcarcinomaSubstitution - Missense

c.3628G>T; p.D1210Y; 11:48163527-48163527

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.559A>G; p.T187A; 11:48121209-48121209

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1255G>A; p.A419T; 11:48127941-48127941

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.2453C>T; p.P818L; 11:48142928-48142928

 skin; trunkmalignant_melanomaSubstitution - Missense

c.625C>A; p.P209T; 11:48123621-48123621

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3294C>A; p.N1098K; 11:48155865-48155865

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1292A>G; p.N431S; 11:48127978-48127978

 central_nervous_system; braingliomaSubstitution - Missense

c.1076C>T; p.A359V; 11:48125169-48125169

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1063G>C; p.G355R; 11:48125156-48125156

 thyroidcarcinomaSubstitution - Missense

c.761G>T; p.R254I; 11:48123757-48123757

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1713C>T; p.Y571Y; 11:48136136-48136136

 skinmalignant_melanomaSubstitution - coding silent

c.1078A>G; p.I360V; 11:48125171-48125171

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3648C>T; p.I1216I; 11:48163547-48163547

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.2843_2858del16; p.I948fs*36; 11:48145056-48145071

 skinmalignant_melanomaDeletion - Frameshift

c.2612A>T; p.Y871F; 11:48144711-48144711

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3051-1G>T; p.?; 11:48150095-48150095

 large_intestine; rectumcarcinoma; adenocarcinomaUnknown

c.3914C>T; p.S1305L; 11:48167262-48167262

 kidneycarcinoma; renal_cell_carcinomaSubstitution - Missense

c.3051-1G>T; p.?; 11:48150095-48150095

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.740A>G; p.E247G; 11:48123736-48123736

 genital_tract; extragonadalgerm_cell_tumour; teratomaSubstitution - Missense

c.3051-1G>T; p.?; 11:48150095-48150095

 stomachcarcinoma; adenocarcinomaUnknown

c.1651G>A; p.V551I; 11:48136074-48136074

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.3946G>A; p.A1316T; 11:48167294-48167294

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.354G>A; p.G118G; 11:48121004-48121004

 skinmalignant_melanomaSubstitution - coding silent

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