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

Basic Information

Gene ID

641

Name

BLM

Synonymous

Bloom syndrome, RecQ helicase-like;BLM;Bloom syndrome, RecQ helicase-like

Definition

Bloom syndrome protein|DNA helicase, RecQ-like type 2|recQ protein-like 3

Position

15q26.1

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 0.16.

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.1041A>C; p.K347N; 15:90754892-90754892

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2889T>A; p.H963Q; 15:90790714-90790714

 livercarcinomaSubstitution - Missense

c.2119C>T; p.P707S; 15:90765340-90765340

 skinmalignant_melanomaSubstitution - Missense

c.2889T>A; p.H963Q; 15:90790714-90790714

 livercarcinomaSubstitution - Missense

c.2119C>T; p.P707S; 15:90765340-90765340

 skinmalignant_melanomaSubstitution - Missense

c.753T>A; p.D251E; 15:90750021-90750021

 livercarcinomaSubstitution - Missense

c.753T>A; p.D251E; 15:90750021-90750021

 livercarcinomaSubstitution - Missense

c.3632G>T; p.R1211M; 15:90804240-90804240

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.3227A>G; p.D1076G; 15:90798206-90798206

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.760_765delGAAAGT; p.E254_S255delES; 15:90750028-90750033

 breastcarcinomaDeletion - In frame

c.1529G>A; p.R510K; 15:90760902-90760902

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3147A>G; p.G1049G; 15:90794294-90794294

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.4024T>C; p.S1342P; 15:90811354-90811354

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1603A>C; p.K535Q; 15:90760976-90760976

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.3793G>T; p.G1265C; 15:90809178-90809178

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.859C>T; p.P287S; 15:90751846-90751846

 skinmalignant_melanomaSubstitution - Missense

c.662C>T; p.T221I; 15:90749930-90749930

 skin; subungualmalignant_melanoma; acral_lentiginousSubstitution - Missense

c.4152T>C; p.H1384H; 15:90815177-90815177

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - coding silent

c.2490G>A; p.T830T; 15:90769521-90769521

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.469A>G; p.M157V; 15:90749737-90749737

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.3139G>A; p.E1047K; 15:90794286-90794286

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2500A>T; p.N834Y; 15:90769531-90769531

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.469A>G; p.M157V; 15:90749737-90749737

 livercarcinomaSubstitution - Missense

c.2490G>A; p.T830T; 15:90769521-90769521

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3260T>G; p.F1087C; 15:90798239-90798239

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2481G>A; p.M827I; 15:90769512-90769512

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.756T>G; p.A252A; 15:90750024-90750024

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2675T>C; p.I892T; 15:90784933-90784933

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.255G>T; p.R85S; 15:90749523-90749523

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1722A>G; p.L574L; 15:90761095-90761095

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.3229G>A; p.V1077M; 15:90798208-90798208

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.6T>A; p.A2A; 15:90747398-90747398

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.793G>C; p.E265Q; 15:90750061-90750061

 breastcarcinomaSubstitution - Missense

c.2270A>G; p.D757G; 15:90766986-90766986

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2720C>T; p.T907M; 15:90784978-90784978

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3839C>T; p.S1280L; 15:90809224-90809224

 breastcarcinomaSubstitution - Missense

c.1413T>C; p.T471T; 15:90760786-90760786

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - coding silent

c.893C>T; p.T298M; 15:90751880-90751880

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.893C>T; p.T298M; 15:90751880-90751880

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.893C>T; p.T298M; 15:90751880-90751880

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.255G>A; p.R85R; 15:90749523-90749523

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.4229T>G; p.L1410R; 15:90815254-90815254

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2372G>A; p.R791H; 15:90769197-90769197

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1074C>T; p.S358S; 15:90754925-90754925

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.449C>T; p.T150I; 15:90749717-90749717

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2890G>A; p.A964T; 15:90790715-90790715

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.3922G>A; p.G1308R; 15:90811252-90811252

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1122T>C; p.H374H; 15:90760181-90760181

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1910G>T; p.R637I; 15:90762993-90762993

 breastcarcinomaSubstitution - Missense

c.2025G>T; p.A675A; 15:90763108-90763108

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3420C>A; p.H1140Q; 15:90803582-90803582

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2695C>T; p.R899*; 15:90784953-90784953

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.3836T>C; p.I1279T; 15:90809221-90809221

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.4206G>T; p.P1402P; 15:90815231-90815231

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2406+2T>C; p.?; 15:90769233-90769233

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.4155T>C; p.T1385T; 15:90815180-90815180

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2474C>A; p.P825Q; 15:90769505-90769505

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.267C>T; p.F89F; 15:90749535-90749535

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.3395G>T; p.G1132V; 15:90803557-90803557

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3505G>A; p.A1169T; 15:90803667-90803667

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2291A>G; p.Y764C; 15:90767007-90767007

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.3755C>T; p.S1252F; 15:90809140-90809140

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.305G>A; p.G102D; 15:90749573-90749573

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.4018C>T; p.P1340S; 15:90811348-90811348

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1275C>T; p.G425G; 15:90760648-90760648

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.861A>G; p.P287P; 15:90751848-90751848

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.685G>A; p.E229K; 15:90749953-90749953

 breastcarcinomaSubstitution - Missense

c.4187T>A; p.L1396*; 15:90815212-90815212

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.2984A>G; p.Y995C; 15:90790809-90790809

 pancreascarcinomaSubstitution - Missense

c.1738T>C; p.S580P; 15:90761111-90761111

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1186T>C; p.C396R; 15:90760245-90760245

 livercarcinomaSubstitution - Missense

c.2227G>A; p.D743N; 15:90766943-90766943

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3131A>G; p.Y1044C; 15:90794278-90794278

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.835G>A; p.E279K; 15:90751822-90751822

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2313T>A; p.C771*; 15:90769138-90769138

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.3575C>T; p.T1192I; 15:90804183-90804183

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2744C>T; p.A915V; 15:90785002-90785002

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1536delA; p.N515fs*16; 15:90760909-90760909

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1536delA; p.N515fs*16; 15:90760909-90760909

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1536delA; p.N515fs*16; 15:90760909-90760909

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1536delA; p.N515fs*16; 15:90760909-90760909

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1536delA; p.N515fs*16; 15:90760909-90760909

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1536delA; p.N515fs*16; 15:90760909-90760909

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1536delA; p.N515fs*16; 15:90760909-90760909

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1536delA; p.N515fs*16; 15:90760909-90760909

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1536delA; p.N515fs*16; 15:90760909-90760909

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1536delA; p.N515fs*16; 15:90760909-90760909

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1536delA; p.N515fs*16; 15:90760909-90760909

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1536delA; p.N515fs*16; 15:90760909-90760909

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1536delA; p.N515fs*16; 15:90760909-90760909

 ovarycarcinoma; serous_carcinomaDeletion - Frameshift

c.1536delA; p.N515fs*16; 15:90760909-90760909

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.1536delA; p.N515fs*16; 15:90760909-90760909

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1536delA; p.N515fs*16; 15:90760909-90760909

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.89C>T; p.P30L; 15:90747481-90747481

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.89C>T; p.P30L; 15:90747481-90747481

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1536delA; p.N515fs*16; 15:90760909-90760909

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.89C>T; p.P30L; 15:90747481-90747481

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.3228T>C; p.D1076D; 15:90798207-90798207

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.3228T>C; p.D1076D; 15:90798207-90798207

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1995G>A; p.L665L; 15:90763078-90763078

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.2951G>T; p.G984V; 15:90790776-90790776

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.3323G>A; p.R1108K; 15:90798302-90798302

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3357G>A; p.L1119L; 15:90798336-90798336

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.10G>T; p.V4F; 15:90747402-90747402

 skinmalignant_melanomaSubstitution - Missense

c.3922_3949del28; p.G1308fs*89; 15:90811252-90811279

 breastcarcinomaDeletion - Frameshift

c.3044C>T; p.T1015I; 15:90794191-90794191

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.2161G>A; p.V721I; 15:90765382-90765382

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2875C>T; p.R959*; 15:90790700-90790700

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1087G>T; p.A363S; 15:90754938-90754938

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1765G>T; p.E589*; 15:90761138-90761138

 breastcarcinomaSubstitution - Nonsense

c.3224G>C; p.R1075T; 15:90798203-90798203

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1050G>A; p.M350I; 15:90754901-90754901

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.4055C>T; p.S1352F; 15:90811385-90811385

 breastcarcinomaSubstitution - Missense

c.98C>T; p.S33L; 15:90747490-90747490

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2407-1G>A; p.?; 15:90769437-90769437

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.1063_1064CC>TT; p.P355L; 15:90754914-90754915

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.278C>A; p.A93D; 15:90749546-90749546

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3282A>G; p.S1094S; 15:90798261-90798261

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1936A>G; p.S646G; 15:90763019-90763019

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.3235G>A; p.D1079N; 15:90798214-90798214

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.143C>T; p.S48F; 15:90749411-90749411

 skinmalignant_melanomaSubstitution - Missense

c.1882+1G>T; p.?; 15:90761256-90761256

 breastcarcinomaUnknown

c.2931T>C; p.S977S; 15:90790756-90790756

 livercarcinomaSubstitution - coding silent

c.297A>G; p.T99T; 15:90749565-90749565

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2413C>T; p.H805Y; 15:90769444-90769444

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.2413C>T; p.H805Y; 15:90769444-90769444

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.2931T>C; p.S977S; 15:90790756-90790756

 livercarcinomaSubstitution - coding silent

c.3958C>T; p.P1320S; 15:90811288-90811288

 breastcarcinomaSubstitution - Missense

c.3768T>G; p.D1256E; 15:90809153-90809153

 skinmalignant_melanomaSubstitution - Missense

c.1556A>G; p.Y519C; 15:90760929-90760929

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.2117C>T; p.S706F; 15:90765338-90765338

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1556A>G; p.Y519C; 15:90760929-90760929

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.3835A>G; p.I1279V; 15:90809220-90809220

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.3835A>G; p.I1279V; 15:90809220-90809220

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1978C>T; p.H660Y; 15:90763061-90763061

 skin; abdomenmalignant_melanomaSubstitution - Missense

c.822T>C; p.N274N; 15:90751809-90751809

 skinmalignant_melanomaSubstitution - coding silent

c.2423G>A; p.R808H; 15:90769454-90769454

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2108C>T; p.A703V; 15:90765329-90765329

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2108C>T; p.A703V; 15:90765329-90765329

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.328G>T; p.D110Y; 15:90749596-90749596

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3108C>A; p.C1036*; 15:90794255-90794255

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Nonsense

c.1958A>T; p.K653M; 15:90763041-90763041

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2452C>T; p.R818C; 15:90769483-90769483

 skinmalignant_melanomaSubstitution - Missense

c.205G>A; p.E69K; 15:90749473-90749473

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.953G>C; p.C318S; 15:90751940-90751940

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3755C>A; p.S1252Y; 15:90809140-90809140

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.4122C>T; p.S1374S; 15:90815147-90815147

 skin; nipplemalignant_melanomaSubstitution - coding silent

c.2936G>C; p.R979T; 15:90790761-90790761

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2584C>T; p.L862L; 15:90782850-90782850

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.440C>A; p.S147Y; 15:90749708-90749708

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1439C>T; p.S480F; 15:90760812-90760812

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3426C>T; p.A1142A; 15:90803588-90803588

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.4101A>G; p.I1367M; 15:90815126-90815126

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3980C>A; p.A1327E; 15:90811310-90811310

 skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3559G>T; p.V1187L; 15:90804167-90804167

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.4101A>G; p.I1367M; 15:90815126-90815126

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2625A>G; p.A875A; 15:90782891-90782891

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3210+3A>G; p.?; 15:90794360-90794360

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.1478A>G; p.N493S; 15:90760851-90760851

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2489C>T; p.T830M; 15:90769520-90769520

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.3427G>A; p.E1143K; 15:90803589-90803589

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2489C>T; p.T830M; 15:90769520-90769520

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3431G>T; p.R1144I; 15:90803593-90803593

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1286G>A; p.R429K; 15:90760659-90760659

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.875A>G; p.D292G; 15:90751862-90751862

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.4128C>A; p.I1376I; 15:90815153-90815153

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1911A>G; p.R637R; 15:90762994-90762994

 breastcarcinomaSubstitution - coding silent

c.550C>G; p.Q184E; 15:90749818-90749818

 breastcarcinomaSubstitution - Missense

c.2050G>T; p.D684Y; 15:90763133-90763133

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2351A>G; p.Y784C; 15:90769176-90769176

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3646delA; p.K1217fs*62; 15:90804254-90804254

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.3558+1G>T; p.?; 15:90803721-90803721

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourUnknown

c.3646delA; p.K1217fs*62; 15:90804254-90804254

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.3646delA; p.K1217fs*62; 15:90804254-90804254

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2583T>C; p.N861N; 15:90782849-90782849

 prostatecarcinomaSubstitution - coding silent

c.2103C>T; p.L701L; 15:90765324-90765324

 skinmalignant_melanomaSubstitution - coding silent

c.863G>T; p.C288F; 15:90751850-90751850

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3378C>T; p.I1126I; 15:90803540-90803540

 skinmalignant_melanomaSubstitution - coding silent

c.723C>T; p.G241G; 15:90749991-90749991

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.3961G>T; p.V1321L; 15:90811291-90811291

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.394C>T; p.R132W; 15:90749662-90749662

 skinmalignant_melanomaSubstitution - Missense

c.4184A>T; p.K1395I; 15:90815209-90815209

 pancreaspancreatic_intraepithelial_neoplasia_(PanIN)Substitution - Missense

c.2535G>A; p.L845L; 15:90769566-90769566

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - coding silent

c.1535_1536insA; p.N515fs*2; 15:90760908-90760909

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.2262delA; p.D757fs*4; 15:90766978-90766978

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.2262delA; p.D757fs*4; 15:90766978-90766978

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.799+7A>G; p.?; 15:90750074-90750074

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaUnknown

c.2262delA; p.D757fs*4; 15:90766978-90766978

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2262delA; p.D757fs*4; 15:90766978-90766978

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2262delA; p.D757fs*4; 15:90766978-90766978

 stomachadenocarcinomaDeletion - Frameshift

c.2968C>A; p.L990M; 15:90790793-90790793

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.4068G>A; p.K1356K; 15:90811398-90811398

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.360C>T; p.C120C; 15:90749628-90749628

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1798C>T; p.L600F; 15:90761171-90761171

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3008G>A; p.R1003K; 15:90790833-90790833

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3082C>T; p.H1028Y; 15:90794229-90794229

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1806A>G; p.S602S; 15:90761179-90761179

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3563A>T; p.D1188V; 15:90804171-90804171

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.4243G>T; p.A1415S; 15:90815268-90815268

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.1693G>A; p.D565N; 15:90761066-90761066

 breastcarcinomaSubstitution - Missense

c.4018C>A; p.P1340T; 15:90811348-90811348

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1883-10A>G; p.?; 15:90762956-90762956

 pancreascarcinomaUnknown

c.551A>T; p.Q184L; 15:90749819-90749819

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2407T>C; p.W803R; 15:90769438-90769438

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3900C>T; p.S1300S; 15:90811230-90811230

 skinmalignant_melanomaSubstitution - coding silent

c.1018G>T; p.D340Y; 15:90754869-90754869

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1939C>A; p.L647I; 15:90763022-90763022

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2310C>G; p.I770M; 15:90769135-90769135

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.1927C>T; p.R643C; 15:90763010-90763010

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1927C>T; p.R643C; 15:90763010-90763010

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.4014G>T; p.K1338N; 15:90811344-90811344

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2468C>T; p.S823F; 15:90769499-90769499

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.699C>T; p.S233S; 15:90749967-90749967

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2478G>A; p.V826V; 15:90769509-90769509

 breastcarcinomaSubstitution - coding silent

c.2144C>T; p.P715L; 15:90765365-90765365

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3381G>T; p.Q1127H; 15:90803543-90803543

 breastcarcinomaSubstitution - Missense

c.79C>T; p.L27F; 15:90747471-90747471

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.373A>C; p.T125P; 15:90749641-90749641

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1312C>T; p.P438S; 15:90760685-90760685

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1257T>C; p.S419S; 15:90760630-90760630

 livercarcinomaSubstitution - coding silent

c.1337C>T; p.T446I; 15:90760710-90760710

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.89C>G; p.P30R; 15:90747481-90747481

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1000G>A; p.V334I; 15:90754851-90754851

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1462G>C; p.E488Q; 15:90760835-90760835

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3849G>T; p.Q1283H; 15:90809234-90809234

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.873T>C; p.F291F; 15:90751860-90751860

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.3039T>C; p.H1013H; 15:90794186-90794186

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.4140T>G; p.S1380R; 15:90815165-90815165

 bone; tibiaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1576A>C; p.T526P; 15:90760949-90760949

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1576A>C; p.T526P; 15:90760949-90760949

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1980T>A; p.H660Q; 15:90763063-90763063

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1044G>A; p.M348I; 15:90754895-90754895

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1980T>A; p.H660Q; 15:90763063-90763063

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

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