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

Basic Information

Gene ID

9940

Name

DLEC1

Synonymous

deleted in lung and esophageal cancer 1;DLEC1;deleted in lung and esophageal cancer 1

Definition

DLC-1|cilia and flagella associated protein 81|deleted in lung and esophageal cancer 1 transcript varient 2|deleted in lung and esophageal cancer protein 1

Position

3p21.3

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

There is no record for DLEC1

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 0.08.

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.4935G>A; p.G1645G; 3:38121696-38121696

 breastcarcinomaSubstitution - coding silent

c.448G>C; p.E150Q; 3:38045579-38045579

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3911_3912insGGGG; p.E1305fs*20; 3:38116507-38116508

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaInsertion - Frameshift

c.3402T>C; p.Y1134Y; 3:38110240-38110240

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2187C>T; p.S729S; 3:38096584-38096584

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2187C>T; p.S729S; 3:38096584-38096584

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2187C>T; p.S729S; 3:38096584-38096584

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.3402T>C; p.Y1134Y; 3:38110240-38110240

 kidneyother; neoplasmSubstitution - coding silent

c.2849delA; p.N951fs*67; 3:38100410-38100410

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1230G>A; p.P410P; 3:38084214-38084214

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.4969G>A; p.V1657I; 3:38121730-38121730

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.515G>T; p.S172I; 3:38045646-38045646

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.415C>T; p.R139W; 3:38045546-38045546

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.3435G>T; p.K1145N; 3:38110273-38110273

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3961G>A; p.G1321R; 3:38116557-38116557

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3100C>T; p.L1034F; 3:38108486-38108486

 kidneyother; neoplasmSubstitution - Missense

c.2709G>T; p.Q903H; 3:38097887-38097887

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2587G>A; p.V863I; 3:38097765-38097765

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.4189G>T; p.A1397S; 3:38116984-38116984

 livercarcinomaSubstitution - Missense

c.4189G>T; p.A1397S; 3:38116984-38116984

 livercarcinomaSubstitution - Missense

c.3790G>A; p.G1264S; 3:38114987-38114987

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.315A>T; p.S105S; 3:38039540-38039540

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2731C>T; p.P911S; 3:38100292-38100292

 skinmalignant_melanomaSubstitution - Missense

c.315A>T; p.S105S; 3:38039540-38039540

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1626G>A; p.S542S; 3:38088349-38088349

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1676C>T; p.S559F; 3:38092800-38092800

 NSmalignant_melanomaSubstitution - Missense

c.4211A>G; p.Y1404C; 3:38117006-38117006

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2829C>T; p.T943T; 3:38100390-38100390

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2829C>T; p.T943T; 3:38100390-38100390

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2076A>G; p.T692T; 3:38095035-38095035

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.4262A>G; p.E1421G; 3:38117057-38117057

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.4140G>A; p.V1380V; 3:38116850-38116850

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.367A>G; p.S123G; 3:38039592-38039592

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.3390C>G; p.L1130L; 3:38110228-38110228

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1001C>T; p.P334L; 3:38062708-38062708

 skinmalignant_melanomaSubstitution - Missense

c.2502C>T; p.D834D; 3:38097574-38097574

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.267C>T; p.T89T; 3:38039492-38039492

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2088C>A; p.F696L; 3:38095047-38095047

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1992C>T; p.F664F; 3:38094951-38094951

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.438G>A; p.L146L; 3:38045569-38045569

 skinmalignant_melanomaSubstitution - coding silent

c.2367C>T; p.I789I; 3:38097208-38097208

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - coding silent

c.520G>A; p.A174T; 3:38045651-38045651

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.926_927delAG; p.E311fs*25; 3:38062633-38062634

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.3685G>A; p.E1229K; 3:38114360-38114360

 skinmalignant_melanomaSubstitution - Missense

c.679T>A; p.S227T; 3:38062174-38062174

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1876C>T; p.L626F; 3:38093724-38093724

 skinmalignant_melanomaSubstitution - Missense

c.3775C>T; p.P1259S; 3:38114450-38114450

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.2212G>A; p.D738N; 3:38096609-38096609

 skinmalignant_melanomaSubstitution - Missense

c.2532G>A; p.S844S; 3:38097604-38097604

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.1129C>G; p.P377A; 3:38063875-38063875

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.895delA; p.N300fs*3; 3:38062602-38062602

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.4783G>C; p.D1595H; 3:38120526-38120526

 NSNSSubstitution - Missense

c.771G>A; p.R257R; 3:38062266-38062266

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.854G>A; p.R285K; 3:38062349-38062349

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2033C>T; p.A678V; 3:38094992-38094992

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.789C>T; p.F263F; 3:38062284-38062284

 skinmalignant_melanomaSubstitution - coding silent

c.789C>T; p.F263F; 3:38062284-38062284

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.789C>T; p.F263F; 3:38062284-38062284

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.789C>T; p.F263F; 3:38062284-38062284

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.789C>T; p.F263F; 3:38062284-38062284

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.4550A>G; p.Y1517C; 3:38117870-38117870

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.4722A>G; p.S1574S; 3:38120465-38120465

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.4613G>T; p.R1538I; 3:38117933-38117933

 livercarcinomaSubstitution - Missense

c.727G>A; p.V243I; 3:38062222-38062222

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1219C>T; p.R407*; 3:38084203-38084203

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.4487T>G; p.V1496G; 3:38117807-38117807

 breastcarcinomaSubstitution - Missense

c.2815C>T; p.Q939*; 3:38100376-38100376

 skinmalignant_melanomaSubstitution - Nonsense

c.225C>T; p.P75P; 3:38039450-38039450

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.236T>G; p.L79R; 3:38039461-38039461

 breastcarcinomaSubstitution - Missense

c.4758A>G; p.P1586P; 3:38120501-38120501

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.236T>G; p.L79R; 3:38039461-38039461

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3824G>A; p.R1275Q; 3:38115021-38115021

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.369C>T; p.S123S; 3:38039594-38039594

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.4881G>A; p.R1627R; 3:38121642-38121642

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.999T>C; p.F333F; 3:38062706-38062706

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.487G>C; p.A163P; 3:38045618-38045618

 thyroidcarcinomaSubstitution - Missense

c.3060C>T; p.S1020S; 3:38108446-38108446

 skinmalignant_melanomaSubstitution - coding silent

c.1668C>T; p.V556V; 3:38092792-38092792

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2520_2521delAG; p.D841fs*10; 3:38097592-38097593

 endometriumcarcinoma; endometrioid_carcinomaDeletion - Frameshift

c.4276G>A; p.A1426T; 3:38117071-38117071

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3815_3816delCA; p.T1272fs*9; 3:38115012-38115013

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.211C>G; p.L71V; 3:38039436-38039436

 breastcarcinomaSubstitution - Missense

c.2595C>T; p.A865A; 3:38097773-38097773

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.4352C>T; p.A1451V; 3:38117254-38117254

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4212C>T; p.Y1404Y; 3:38117007-38117007

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.4880G>A; p.R1627Q; 3:38121641-38121641

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.613C>A; p.H205N; 3:38059792-38059792

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2531C>T; p.S844L; 3:38097603-38097603

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.901T>C; p.W301R; 3:38062608-38062608

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.4556G>A; p.R1519Q; 3:38117876-38117876

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.725C>T; p.S242F; 3:38062220-38062220

 skinmalignant_melanomaSubstitution - Missense

c.642C>A; p.T214T; 3:38059821-38059821

 skinmalignant_melanomaSubstitution - coding silent

c.1442C>T; p.P481L; 3:38086247-38086247

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2077G>A; p.D693N; 3:38095036-38095036

 skinmalignant_melanomaSubstitution - Missense

c.1716C>T; p.I572I; 3:38092840-38092840

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2339A>G; p.K780R; 3:38096736-38096736

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.4559T>C; p.L1520P; 3:38117879-38117879

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1924G>A; p.V642M; 3:38094883-38094883

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.5265C>T; p.P1755P; 3:38122409-38122409

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.4539G>A; p.E1513E; 3:38117859-38117859

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1639G>A; p.A547T; 3:38088362-38088362

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.645T>C; p.D215D; 3:38059824-38059824

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.4386C>T; p.Y1462Y; 3:38117288-38117288

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.5257C>G; p.H1753D; 3:38122401-38122401

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2020G>A; p.D674N; 3:38094979-38094979

 skinmalignant_melanomaSubstitution - Missense

c.4775C>A; p.P1592H; 3:38120518-38120518

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3279C>A; p.G1093G; 3:38110117-38110117

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1027T>C; p.S343P; 3:38062734-38062734

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3435G>C; p.K1145N; 3:38110273-38110273

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.2282A>T; p.Y761F; 3:38096679-38096679

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1059G>A; p.P353P; 3:38062766-38062766

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1057C>T; p.P353S; 3:38062764-38062764

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1059G>A; p.P353P; 3:38062766-38062766

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.2656G>A; p.V886I; 3:38097834-38097834

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2614C>T; p.R872C; 3:38097792-38097792

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4164C>T; p.I1388I; 3:38116874-38116874

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2614C>T; p.R872C; 3:38097792-38097792

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1052C>T; p.P351L; 3:38062759-38062759

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2802G>T; p.E934D; 3:38100363-38100363

 livercarcinomaSubstitution - Missense

c.2802G>T; p.E934D; 3:38100363-38100363

 livercarcinomaSubstitution - Missense

c.1052C>T; p.P351L; 3:38062759-38062759

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.3031C>T; p.Q1011*; 3:38108417-38108417

 skinmalignant_melanomaSubstitution - Nonsense

c.152A>G; p.Y51C; 3:38039377-38039377

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.485G>A; p.R162Q; 3:38045616-38045616

 skinmalignant_melanomaSubstitution - Missense

c.109A>G; p.S37G; 3:38039334-38039334

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3903C>T; p.D1301D; 3:38116499-38116499

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.4964G>A; p.R1655Q; 3:38121725-38121725

 skinmalignant_melanomaSubstitution - Missense

c.2518G>A; p.E840K; 3:38097590-38097590

 skinmalignant_melanomaSubstitution - Missense

c.3811G>A; p.D1271N; 3:38115008-38115008

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2518G>A; p.E840K; 3:38097590-38097590

 breastcarcinomaSubstitution - Missense

c.1030C>A; p.L344I; 3:38062737-38062737

 breastcarcinomaSubstitution - Missense

c.3289G>A; p.E1097K; 3:38110127-38110127

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1584C>T; p.T528T; 3:38088307-38088307

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.4893C>T; p.A1631A; 3:38121654-38121654

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2848G>A; p.E950K; 3:38100409-38100409

 skinmalignant_melanomaSubstitution - Missense

c.2848G>A; p.E950K; 3:38100409-38100409

 skinmalignant_melanomaSubstitution - Missense

c.1443G>A; p.P481P; 3:38086248-38086248

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.485G>T; p.R162L; 3:38045616-38045616

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3478C>T; p.R1160W; 3:38111711-38111711

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1239G>A; p.T413T; 3:38084223-38084223

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1239G>A; p.T413T; 3:38084223-38084223

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.4063-7G>C; p.?; 3:38116766-38116766

 livercarcinomaUnknown

c.1239G>A; p.T413T; 3:38084223-38084223

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.3521T>C; p.M1174T; 3:38112216-38112216

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.4892C>T; p.A1631V; 3:38121653-38121653

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.5071_5072insAACA; p.S1691fs*28; 3:38122121-38122122

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaInsertion - Frameshift

c.4582G>A; p.V1528I; 3:38117902-38117902

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.5071_5072insAACA; p.S1691fs*28; 3:38122121-38122122

 central_nervous_system; braingliomaInsertion - Frameshift

c.2284G>A; p.A762T; 3:38096681-38096681

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.3360T>A; p.N1120K; 3:38110198-38110198

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2615G>C; p.R872P; 3:38097793-38097793

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.3147G>C; p.L1049L; 3:38109449-38109449

 ovaryother; neoplasmSubstitution - coding silent

c.4151A>C; p.H1384P; 3:38116861-38116861

 breastcarcinomaSubstitution - Missense

c.2565+2T>A; p.?; 3:38097639-38097639

 ovarycarcinoma; serous_carcinomaUnknown

c.991C>T; p.R331C; 3:38062698-38062698

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3215G>A; p.G1072E; 3:38109517-38109517

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2984G>A; p.G995D; 3:38107703-38107703

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.779T>G; p.L260R; 3:38062274-38062274

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3915G>A; p.E1305E; 3:38116511-38116511

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.978C>T; p.F326F; 3:38062685-38062685

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.3911T>G; p.V1304G; 3:38116507-38116507

 thyroidother; neoplasmSubstitution - Missense

c.2685G>A; p.M895I; 3:38097863-38097863

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.900C>T; p.N300N; 3:38062607-38062607

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.764C>T; p.S255L; 3:38062259-38062259

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.874-2A>G; p.?; 3:38062579-38062579

 lung; right_lower_lobecarcinoma; adenocarcinomaUnknown

c.2180C>T; p.A727V; 3:38096577-38096577

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.4662A>G; p.S1554S; 3:38117982-38117982

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.4048G>A; p.E1350K; 3:38116644-38116644

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.4997G>A; p.R1666Q; 3:38121758-38121758

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1731C>T; p.C577C; 3:38092855-38092855

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.257C>T; p.S86L; 3:38039482-38039482

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.5051C>A; p.A1684D; 3:38122101-38122101

 breastcarcinomaSubstitution - Missense

c.145C>A; p.L49I; 3:38039370-38039370

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2028G>T; p.E676D; 3:38094987-38094987

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.4125G>A; p.Q1375Q; 3:38116835-38116835

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1554G>A; p.W518*; 3:38086359-38086359

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.3340C>T; p.R1114C; 3:38110178-38110178

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.4372G>C; p.D1458H; 3:38117274-38117274

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.85C>T; p.P29S; 3:38039310-38039310

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.4954C>T; p.Q1652*; 3:38121715-38121715

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.631G>A; p.D211N; 3:38059810-38059810

 skinmalignant_melanomaSubstitution - Missense

c.631G>A; p.D211N; 3:38059810-38059810

 skinmalignant_melanomaSubstitution - Missense

c.2595C>A; p.A865A; 3:38097773-38097773

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.3458C>T; p.P1153L; 3:38111691-38111691

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.654G>A; p.P218P; 3:38059833-38059833

 bone; fibulaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.3458C>T; p.P1153L; 3:38111691-38111691

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.5145G>A; p.R1715R; 3:38122289-38122289

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.3621C>T; p.G1207G; 3:38112316-38112316

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.450A>C; p.E150D; 3:38045581-38045581

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3941T>C; p.F1314S; 3:38116537-38116537

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4751A>C; p.K1584T; 3:38120494-38120494

 livercarcinomaSubstitution - Missense

c.3267G>T; p.E1089D; 3:38110105-38110105

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.4751A>C; p.K1584T; 3:38120494-38120494

 livercarcinomaSubstitution - Missense

c.1722C>T; p.C574C; 3:38092846-38092846

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1722C>T; p.C574C; 3:38092846-38092846

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.5082A>G; p.L1694L; 3:38122132-38122132

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.3081C>T; p.G1027G; 3:38108467-38108467

 skinmalignant_melanomaSubstitution - coding silent

c.878C>T; p.A293V; 3:38062585-38062585

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3781A>G; p.M1261V; 3:38114456-38114456

 NSmalignant_melanomaSubstitution - Missense

c.988C>T; p.P330S; 3:38062695-38062695

 skinmalignant_melanomaSubstitution - Missense

c.4209C>T; p.I1403I; 3:38117004-38117004

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.2737G>A; p.D913N; 3:38100298-38100298

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2198C>T; p.S733F; 3:38096595-38096595

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3781A>G; p.M1261V; 3:38114456-38114456

 NSmalignant_melanomaSubstitution - Missense

c.2737G>A; p.D913N; 3:38100298-38100298

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4209C>T; p.I1403I; 3:38117004-38117004

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.2650C>A; p.R884R; 3:38097828-38097828

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.3733C>A; p.L1245M; 3:38114408-38114408

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2190G>A; p.L730L; 3:38096587-38096587

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2551G>A; p.E851K; 3:38097623-38097623

 skinmalignant_melanomaSubstitution - Missense

c.2958G>A; p.T986T; 3:38107677-38107677

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.2075C>T; p.T692I; 3:38095034-38095034

 pancreascarcinomaSubstitution - Missense

c.2934A>C; p.R978S; 3:38107653-38107653

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2958G>A; p.T986T; 3:38107677-38107677

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.5029G>A; p.E1677K; 3:38122079-38122079

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.5029G>A; p.E1677K; 3:38122079-38122079

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.5095G>A; p.A1699T; 3:38122145-38122145

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3260G>T; p.S1087I; 3:38109562-38109562

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1800T>C; p.G600G; 3:38093648-38093648

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.2230G>A; p.E744K; 3:38096627-38096627

 skinmalignant_melanomaSubstitution - Missense

c.4461C>T; p.L1487L; 3:38117587-38117587

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.2651G>A; p.R884Q; 3:38097829-38097829

 pancreasNSSubstitution - Missense

c.1330C>T; p.P444S; 3:38085342-38085342

 skinmalignant_melanomaSubstitution - Missense

c.2111A>G; p.E704G; 3:38095070-38095070

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.3293T>G; p.L1098R; 3:38110131-38110131

 skinmalignant_melanomaSubstitution - Missense

c.5107C>G; p.P1703A; 3:38122157-38122157

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2664G>A; p.Q888Q; 3:38097842-38097842

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.1028C>T; p.S343F; 3:38062735-38062735

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2805C>T; p.A935A; 3:38100366-38100366

 skinmalignant_melanomaSubstitution - coding silent

c.4401-1G>A; p.?; 3:38117526-38117526

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.3104A>T; p.K1035M; 3:38108490-38108490

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.3602T>G; p.L1201R; 3:38112297-38112297

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1879C>T; p.R627W; 3:38093727-38093727

 pancreascarcinomaSubstitution - Missense

c.2199C>T; p.S733S; 3:38096596-38096596

 breastcarcinomaSubstitution - coding silent

c.873+1G>A; p.?; 3:38062369-38062369

 skinmalignant_melanomaUnknown

c.5213G>A; p.R1738Q; 3:38122357-38122357

 pancreascarcinomaSubstitution - Missense

c.2457T>C; p.F819F; 3:38097529-38097529

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.5106C>T; p.P1702P; 3:38122156-38122156

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1701G>A; p.E567E; 3:38092825-38092825

 skinmalignant_melanomaSubstitution - coding silent

c.3530T>C; p.M1177T; 3:38112225-38112225

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3995G>A; p.G1332D; 3:38116591-38116591

 skinmalignant_melanomaSubstitution - Missense

c.2530T>C; p.S844P; 3:38097602-38097602

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.5248A>G; p.M1750V; 3:38122392-38122392

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.5090G>A; p.R1697Q; 3:38122140-38122140

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.235C>T; p.L79L; 3:38039460-38039460

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1289T>C; p.V430A; 3:38085301-38085301

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.3991G>A; p.E1331K; 3:38116587-38116587

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.5191G>A; p.G1731S; 3:38122335-38122335

 skinmalignant_melanomaSubstitution - Missense

c.1052C>A; p.P351Q; 3:38062759-38062759

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1262_1263GG>TT; p.G421V; 3:38085274-38085275

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2775G>A; p.G925G; 3:38100336-38100336

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.315A>G; p.S105S; 3:38039540-38039540

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2254G>A; p.E752K; 3:38096651-38096651

 skin; extremitymalignant_melanomaSubstitution - Missense

c.2448C>T; p.V816V; 3:38097520-38097520

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.643G>A; p.D215N; 3:38059822-38059822

 skinmalignant_melanomaSubstitution - Missense

c.2258C>T; p.P753L; 3:38096655-38096655

 skinmalignant_melanomaSubstitution - Missense

c.643G>A; p.D215N; 3:38059822-38059822

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.643G>A; p.D215N; 3:38059822-38059822

 large_intestine; rectumNSSubstitution - Missense

c.832T>G; p.L278V; 3:38062327-38062327

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.2542T>C; p.L848L; 3:38097614-38097614

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.3897G>A; p.K1299K; 3:38116493-38116493

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1066G>A; p.E356K; 3:38062773-38062773

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2532G>T; p.S844S; 3:38097604-38097604

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.3265G>A; p.E1089K; 3:38110103-38110103

 skinmalignant_melanomaSubstitution - Missense

c.2527C>T; p.P843S; 3:38097599-38097599

 peritoneum; appendixother; pseudomyxoma_peritoneiSubstitution - Missense

c.1303A>C; p.T435P; 3:38085315-38085315

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.820C>T; p.L274L; 3:38062315-38062315

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.4035G>A; p.S1345S; 3:38116631-38116631

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.4035G>A; p.S1345S; 3:38116631-38116631

 pancreascarcinoma; adenocarcinomaSubstitution - coding silent

c.4315G>A; p.E1439K; 3:38117217-38117217

 skinmalignant_melanomaSubstitution - Missense

c.2343G>A; p.M781I; 3:38097184-38097184

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3640G>A; p.E1214K; 3:38112335-38112335

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1052C>G; p.P351R; 3:38062759-38062759

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.5160C>T; p.Y1720Y; 3:38122304-38122304

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.643G>T; p.D215Y; 3:38059822-38059822

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.981delA; p.N329fs*26; 3:38062688-38062688

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.981delA; p.N329fs*26; 3:38062688-38062688

 stomachadenocarcinomaDeletion - Frameshift

c.3564T>C; p.P1188P; 3:38112259-38112259

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.4025C>T; p.S1342F; 3:38116621-38116621

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1255G>A; p.G419R; 3:38084239-38084239

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.3407G>A; p.G1136E; 3:38110245-38110245

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1072C>T; p.Q358*; 3:38062779-38062779

 skinmalignant_melanomaSubstitution - Nonsense

c.2241G>A; p.V747V; 3:38096638-38096638

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.2107C>T; p.H703Y; 3:38095066-38095066

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1625C>T; p.S542L; 3:38088348-38088348

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1585G>A; p.V529I; 3:38088308-38088308

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1585G>A; p.V529I; 3:38088308-38088308

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2704C>A; p.L902I; 3:38097882-38097882

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1450G>A; p.D484N; 3:38086255-38086255

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3283C>T; p.P1095S; 3:38110121-38110121

 skin; shouldermalignant_melanomaSubstitution - Missense

c.3540C>T; p.H1180H; 3:38112235-38112235

 pancreascarcinomaSubstitution - coding silent

c.3690C>T; p.V1230V; 3:38114365-38114365

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1812G>A; p.Q604Q; 3:38093660-38093660

 skinmalignant_melanomaSubstitution - coding silent

c.3845C>A; p.S1282Y; 3:38115042-38115042

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3690C>T; p.V1230V; 3:38114365-38114365

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.3313G>C; p.A1105P; 3:38110151-38110151

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.4409T>A; p.V1470E; 3:38117535-38117535

 pancreascarcinomaSubstitution - Missense

c.2287C>T; p.L763F; 3:38096684-38096684

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.1460A>G; p.Y487C; 3:38086265-38086265

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2854G>T; p.G952C; 3:38100415-38100415

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1799G>T; p.G600V; 3:38093647-38093647

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2517C>T; p.I839I; 3:38097589-38097589

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.4956G>A; p.Q1652Q; 3:38121717-38121717

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.992_993insT; p.P334fs*3; 3:38062699-38062700

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.4870G>A; p.V1624M; 3:38121631-38121631

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.2517C>T; p.I839I; 3:38097589-38097589

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.3899A>G; p.E1300G; 3:38116495-38116495

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.4036G>A; p.E1346K; 3:38116632-38116632

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2830G>A; p.V944I; 3:38100391-38100391

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.2830G>A; p.V944I; 3:38100391-38100391

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.2077G>T; p.D693Y; 3:38095036-38095036

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3296G>A; p.R1099H; 3:38110134-38110134

 pancreasNSSubstitution - Missense

c.3314C>T; p.A1105V; 3:38110152-38110152

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1870G>A; p.E624K; 3:38093718-38093718

 skinmalignant_melanomaSubstitution - Missense

c.4658C>T; p.A1553V; 3:38117978-38117978

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.993delT; p.P334fs*21; 3:38062700-38062700

 stomachadenocarcinomaDeletion - Frameshift

c.2354G>A; p.S785N; 3:38097195-38097195

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3812_3813delAC; p.T1272fs*9; 3:38115009-38115010

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.3429C>T; p.S1143S; 3:38110267-38110267

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.75G>A; p.A25A; 3:38039300-38039300

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3288G>A; p.K1096K; 3:38110126-38110126

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.4340T>C; p.L1447P; 3:38117242-38117242

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

')