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

Basic Information

Gene ID

23095

Name

KIF1B

Synonymous

kinesin family member 1B;KIF1B;kinesin family member 1B

Definition

kinesin superfamily protein KIF1B|kinesin-like protein KIF1B

Position

1p36.2

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 0.06.

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.3180G>A; p.E1060E; 1:10337429-10337429

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1422A>G; p.G474G; 1:10292092-10292092

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.3318G>A; p.T1106T; 1:10339802-10339802

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.4011G>T; p.M1337I; 1:10361022-10361022

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2352_2364del13; p.D785fs*17; 1:10324015-10324027

oesophaguscarcinoma; adenocarcinomaDeletion - Frameshift

c.3185G>A; p.G1062D; 1:10337434-10337434

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.253G>A; p.A85T; 1:10258562-10258562

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.253G>A; p.A85T; 1:10258562-10258562

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3698C>A; p.P1233H; 1:10347799-10347799

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.873G>T; p.K291N; 1:10275436-10275436

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.186C>T; p.P62P; 1:10258495-10258495

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1296G>A; p.K432K; 1:10282533-10282533

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.4448C>T; p.S1483L; 1:10365482-10365482

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3995G>T; p.G1332V; 1:10361006-10361006

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3820C>T; p.R1274W; 1:10352639-10352639

breastcarcinomaSubstitution - Missense

c.3820C>T; p.R1274W; 1:10352639-10352639

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.3820C>T; p.R1274W; 1:10352639-10352639

breastcarcinomaSubstitution - Missense

c.1640-2A>T; p.?; 1:10296580-10296580

kidneycarcinoma; clear_cell_renal_cell_carcinomaUnknown

c.1640-2A>T; p.?; 1:10296580-10296580

kidneycarcinoma; clear_cell_renal_cell_carcinomaUnknown

c.1694G>A; p.R565K; 1:10296636-10296636

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2691C>T; p.A897A; 1:10326264-10326264

skinmalignant_melanomaSubstitution - coding silent

c.1855G>A; p.E619K; 1:10297028-10297028

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.833T>G; p.L278W; 1:10272275-10272275

skinmalignant_melanomaSubstitution - Missense

c.326G>T; p.G109V; 1:10258635-10258635

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.3908A>G; p.N1303S; 1:10352727-10352727

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2489G>A; p.G830D; 1:10324847-10324847

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3737G>A; p.R1246Q; 1:10348659-10348659

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.5298C>G; p.S1766R; 1:10376572-10376572

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.895C>T; p.P299S; 1:10275458-10275458

skinmalignant_melanomaSubstitution - Missense

c.895C>T; p.P299S; 1:10275458-10275458

skinmalignant_melanomaSubstitution - Missense

c.1639+10C>T; p.?; 1:10295776-10295776

stomachcarcinoma; adenocarcinomaUnknown

c.4711C>T; p.R1571W; 1:10371165-10371165

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.4252A>T; p.I1418F; 1:10365123-10365123

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.88A>G; p.M30V; 1:10232416-10232416

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2327G>A; p.R776H; 1:10323990-10323990

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3911C>G; p.S1304C; 1:10352730-10352730

breastcarcinomaSubstitution - Missense

c.3918-1G>T; p.?; 1:10360928-10360928

stomachcarcinoma; adenocarcinomaUnknown

c.920G>A; p.W307*; 1:10275483-10275483

oesophaguscarcinoma; adenocarcinomaSubstitution - Nonsense

c.1880A>G; p.D627G; 1:10297053-10297053

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2992-10delT; p.?; 1:10337064-10337064

skinmalignant_melanomaUnknown

c.2297delA; p.T768fs*12; 1:10323960-10323960

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2881C>T; p.R961C; 1:10334614-10334614

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.4144G>A; p.G1382S; 1:10361803-10361803

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2638G>A; p.E880K; 1:10326211-10326211

urinary_tract; bladdercarcinomaSubstitution - Missense

c.2638G>A; p.E880K; 1:10326211-10326211

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1298A>C; p.E433A; 1:10291083-10291083

skin; armmalignant_melanomaSubstitution - Missense

c.4691C>T; p.S1564F; 1:10371145-10371145

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.4117C>T; p.R1373C; 1:10361776-10361776

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.206C>T; p.S69F; 1:10258515-10258515

breastcarcinomaSubstitution - Missense

c.3505C>T; p.P1169S; 1:10343242-10343242

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2024G>A; p.R675Q; 1:10320089-10320089

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3514C>T; p.R1172*; 1:10343251-10343251

ovarycarcinoma; serous_carcinomaSubstitution - Nonsense

c.2024G>A; p.R675Q; 1:10320089-10320089

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.865-1G>C; p.?; 1:10275427-10275427

urinary_tract; bladdercarcinomaUnknown

c.3372G>A; p.Q1124Q; 1:10339856-10339856

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.3372G>A; p.Q1124Q; 1:10339856-10339856

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2593C>T; p.P865S; 1:10326166-10326166

skinmalignant_melanomaSubstitution - Missense

c.3944G>T; p.W1315L; 1:10360955-10360955

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.4842C>A; p.P1614P; 1:10374349-10374349

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.4671C>T; p.S1557S; 1:10368523-10368523

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.123G>T; p.K41N; 1:10256263-10256263

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3507G>A; p.P1169P; 1:10343244-10343244

livercarcinomaSubstitution - coding silent

c.3507G>A; p.P1169P; 1:10343244-10343244

livercarcinomaSubstitution - coding silent

c.3292C>T; p.H1098Y; 1:10339776-10339776

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3040G>A; p.E1014K; 1:10337122-10337122

breastcarcinomaSubstitution - Missense

c.701C>A; p.T234N; 1:10268244-10268244

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3146A>G; p.D1049G; 1:10337395-10337395

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.983C>T; p.A328V; 1:10276363-10276363

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1086G>T; p.L362L; 1:10278052-10278052

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.5051T>A; p.V1684D; 1:10374946-10374946

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.285C>G; p.A95A; 1:10258594-10258594

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.285C>G; p.A95A; 1:10258594-10258594

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.5051T>A; p.V1684D; 1:10374946-10374946

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.285C>G; p.A95A; 1:10258594-10258594

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.139C>T; p.P47S; 1:10256279-10256279

skinmalignant_melanomaSubstitution - Missense

c.719A>T; p.K240M; 1:10268262-10268262

endometriumcarcinoma; serous_carcinomaSubstitution - Missense

c.1888C>G; p.Q630E; 1:10297061-10297061

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1542A>G; p.Q514Q; 1:10295669-10295669

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; polycythaemia_veraSubstitution - coding silent

c.1819C>T; p.P607S; 1:10296992-10296992

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.85C>T; p.Q29*; 1:10232413-10232413

urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.2848G>A; p.V950I; 1:10334581-10334581

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.3712delT; p.L1239fs*12; 1:10347813-10347813

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.4666G>A; p.G1556S; 1:10368518-10368518

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1297G>A; p.E433K; 1:10291082-10291082

skin; armmalignant_melanomaSubstitution - Missense

c.96C>T; p.G32G; 1:10232424-10232424

prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.3002C>T; p.S1001L; 1:10337084-10337084

skinmalignant_melanomaSubstitution - Missense

c.3396A>C; p.E1132D; 1:10342070-10342070

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1830T>C; p.P610P; 1:10297003-10297003

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.5271-4A>C; p.?; 1:10376541-10376541

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.3002C>T; p.S1001L; 1:10337084-10337084

skinmalignant_melanomaSubstitution - Missense

c.4575C>T; p.I1525I; 1:10365609-10365609

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.5271-4A>C; p.?; 1:10376541-10376541

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.1191A>G; p.P397P; 1:10282428-10282428

thyroidother; neoplasmSubstitution - coding silent

c.1711C>G; p.Q571E; 1:10296653-10296653

breastcarcinomaSubstitution - Missense

c.4525G>C; p.E1509Q; 1:10365559-10365559

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.3107G>A; p.R1036Q; 1:10337189-10337189

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3107G>A; p.R1036Q; 1:10337189-10337189

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.3317C>T; p.T1106M; 1:10339801-10339801

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2384C>A; p.S795Y; 1:10324047-10324047

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1713G>A; p.Q571Q; 1:10296655-10296655

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.220T>A; p.Y74N; 1:10258529-10258529

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2710G>T; p.E904*; 1:10326283-10326283

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.3010G>T; p.A1004S; 1:10337092-10337092

thyroidother; neoplasmSubstitution - Missense

c.4233G>A; p.M1411I; 1:10365104-10365104

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4167G>T; p.S1389S; 1:10363283-10363283

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.5285G>A; p.R1762H; 1:10376559-10376559

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.3285C>T; p.N1095N; 1:10339769-10339769

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.3285C>T; p.N1095N; 1:10339769-10339769

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.5285G>A; p.R1762H; 1:10376559-10376559

stomachadenocarcinomaSubstitution - Missense

c.227A>G; p.D76G; 1:10258536-10258536

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.306A>G; p.G102G; 1:10258615-10258615

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2701G>A; p.A901T; 1:10326274-10326274

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.227A>G; p.D76G; 1:10258536-10258536

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2680G>A; p.V894M; 1:10326253-10326253

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1223T>C; p.L408S; 1:10282460-10282460

livercarcinomaSubstitution - Missense

c.1198T>A; p.C400S; 1:10282435-10282435

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.3350C>T; p.P1117L; 1:10339834-10339834

skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4020G>A; p.S1340S; 1:10361031-10361031

oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.4020G>A; p.S1340S; 1:10361031-10361031

prostatecarcinomaSubstitution - coding silent

c.654C>T; p.H218H; 1:10268197-10268197

bone; femurEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.3399A>G; p.S1133S; 1:10342073-10342073

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.980C>T; p.P327L; 1:10276360-10276360

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2149C>T; p.R717W; 1:10321786-10321786

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.146C>T; p.S49F; 1:10256286-10256286

skinmalignant_melanomaSubstitution - Missense

c.5304G>A; p.S1768S; 1:10376578-10376578

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.146C>T; p.S49F; 1:10256286-10256286

skinmalignant_melanomaSubstitution - Missense

c.2464G>T; p.D822Y; 1:10324822-10324822

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.4600G>A; p.E1534K; 1:10365634-10365634

skinmalignant_melanomaSubstitution - Missense

c.4313G>T; p.R1438L; 1:10365184-10365184

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.226G>T; p.D76Y; 1:10258535-10258535

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.4759T>C; p.S1587P; 1:10371213-10371213

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.5227G>A; p.D1743N; 1:10375330-10375330

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4672G>A; p.V1558I; 1:10368524-10368524

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3410A>G; p.Y1137C; 1:10342084-10342084

lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.3812-1G>A; p.?; 1:10352630-10352630

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelofibrosisUnknown

c.997G>A; p.D333N; 1:10276377-10276377

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3551-2A>C; p.?; 1:10345843-10345843

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaUnknown

c.339A>C; p.E113D; 1:10258648-10258648

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2494G>A; p.D832N; 1:10324852-10324852

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2689G>A; p.A897T; 1:10326262-10326262

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4313G>A; p.R1438H; 1:10365184-10365184

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.2558G>T; p.C853F; 1:10326131-10326131

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2558G>T; p.C853F; 1:10326131-10326131

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2510G>A; p.R837Q; 1:10324868-10324868

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4548G>C; p.E1516D; 1:10365582-10365582

breastcarcinomaSubstitution - Missense

c.127C>T; p.P43S; 1:10256267-10256267

skinmalignant_melanomaSubstitution - Missense

c.4236G>A; p.Q1412Q; 1:10365107-10365107

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2902G>A; p.A968T; 1:10334635-10334635

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.4525G>A; p.E1509K; 1:10365559-10365559

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3697C>T; p.P1233S; 1:10347798-10347798

NSmalignant_melanomaSubstitution - Missense

c.5206C>A; p.L1736I; 1:10375309-10375309

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4166C>T; p.S1389L; 1:10361825-10361825

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1055C>T; p.A352V; 1:10278021-10278021

breastcarcinomaSubstitution - Missense

c.3773G>C; p.S1258T; 1:10348695-10348695

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.5266A>G; p.I1756V; 1:10375369-10375369

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1569A>T; p.I523I; 1:10295696-10295696

breastcarcinomaSubstitution - coding silent

c.2344G>A; p.E782K; 1:10324007-10324007

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.4561G>A; p.D1521N; 1:10365595-10365595

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3013A>G; p.M1005V; 1:10337095-10337095

thyroidcarcinomaSubstitution - Missense

c.2322C>T; p.F774F; 1:10323985-10323985

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.709T>C; p.S237P; 1:10268252-10268252

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.2179C>T; p.L727L; 1:10321816-10321816

skinmalignant_melanomaSubstitution - coding silent

c.2754C>T; p.Y918Y; 1:10326327-10326327

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1995G>A; p.L665L; 1:10320060-10320060

prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.3902C>T; p.S1301F; 1:10352721-10352721

skinmalignant_melanomaSubstitution - Missense

c.4055C>T; p.A1352V; 1:10361714-10361714

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.3599G>A; p.S1200N; 1:10345893-10345893

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1899G>T; p.E633D; 1:10297072-10297072

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1398G>A; p.M466I; 1:10292068-10292068

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.5272T>G; p.S1758A; 1:10376546-10376546

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.5272T>G; p.S1758A; 1:10376546-10376546

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.4176C>A; p.V1392V; 1:10363292-10363292

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3618C>T; p.L1206L; 1:10345912-10345912

skinmalignant_melanomaSubstitution - coding silent

c.4531G>A; p.A1511T; 1:10365565-10365565

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2920C>T; p.P974S; 1:10336671-10336671

skinmalignant_melanomaSubstitution - Missense

c.1187C>T; p.S396F; 1:10282424-10282424

skinmalignant_melanomaSubstitution - Missense

c.3774C>T; p.S1258S; 1:10348696-10348696

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.3774C>T; p.S1258S; 1:10348696-10348696

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.987T>C; p.D329D; 1:10276367-10276367

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1308G>A; p.K436K; 1:10291093-10291093

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.5269C>T; p.R1757W; 1:10375372-10375372

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.5269C>T; p.R1757W; 1:10375372-10375372

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1308G>A; p.K436K; 1:10291093-10291093

upper_aerodigestive_tract; mouthcarcinomaSubstitution - coding silent

c.2569C>T; p.R857C; 1:10326142-10326142

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3934G>C; p.E1312Q; 1:10360945-10360945

breastcarcinomaSubstitution - Missense

c.2569C>T; p.R857C; 1:10326142-10326142

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2569C>T; p.R857C; 1:10326142-10326142

large_intestineadenomaSubstitution - Missense

c.2060A>C; p.E687A; 1:10320125-10320125

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3308C>A; p.A1103E; 1:10339792-10339792

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1771C>T; p.P591S; 1:10296944-10296944

skinmalignant_melanomaSubstitution - Missense

c.1568T>C; p.I523T; 1:10295695-10295695

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.419A>G; p.Y140C; 1:10261960-10261960

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1568T>C; p.I523T; 1:10295695-10295695

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.5136G>A; p.Q1712Q; 1:10375031-10375031

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.656C>T; p.A219V; 1:10268199-10268199

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.816T>C; p.N272N; 1:10272258-10272258

breastcarcinomaSubstitution - coding silent

c.2079G>T; p.W693C; 1:10321716-10321716

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2251A>G; p.T751A; 1:10323914-10323914

skinmalignant_melanomaSubstitution - Missense

c.4959-7delT; p.?; 1:10374847-10374847

oesophagus; lower_thirdcarcinoma; adenocarcinomaUnknown

c.2172C>T; p.A724A; 1:10321809-10321809

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1475A>G; p.N492S; 1:10295108-10295108

livercarcinomaSubstitution - Missense

c.4945G>T; p.E1649*; 1:10374452-10374452

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.4475delC; p.L1493fs*101; 1:10365509-10365509

kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - Frameshift

c.4161A>G; p.P1387P; 1:10361820-10361820

livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.1034C>T; p.A345V; 1:10278000-10278000

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2890G>A; p.V964I; 1:10334623-10334623

thyroidcarcinomaSubstitution - Missense

c.4280G>A; p.R1427Q; 1:10365151-10365151

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.2866G>A; p.V956M; 1:10334599-10334599

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.4219G>T; p.G1407C; 1:10363335-10363335

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2623A>G; p.T875A; 1:10326196-10326196

breastcarcinomaSubstitution - Missense

c.3502C>T; p.Q1168*; 1:10343239-10343239

skinmalignant_melanomaSubstitution - Nonsense

c.4714G>T; p.D1572Y; 1:10371168-10371168

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.5163C>A; p.T1721T; 1:10375266-10375266

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2923G>A; p.D975N; 1:10336674-10336674

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.4663C>T; p.H1555Y; 1:10368515-10368515

large_intestine; colonadenomaSubstitution - Missense

c.5163C>A; p.T1721T; 1:10375266-10375266

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.5163C>A; p.T1721T; 1:10375266-10375266

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.3167G>T; p.G1056V; 1:10337416-10337416

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.125A>T; p.N42I; 1:10256265-10256265

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.953G>C; p.R318P; 1:10276333-10276333

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.4123C>G; p.L1375V; 1:10361782-10361782

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1579G>T; p.G527W; 1:10295706-10295706

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.4440G>A; p.L1480L; 1:10365474-10365474

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2709G>T; p.T903T; 1:10326282-10326282

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.3841G>A; p.E1281K; 1:10352660-10352660

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.4769C>T; p.P1590L; 1:10371223-10371223

skinmalignant_melanomaSubstitution - Missense

c.4440G>A; p.L1480L; 1:10365474-10365474

upper_aerodigestive_tract; mouthcarcinomaSubstitution - coding silent

c.4784C>G; p.S1595C; 1:10371238-10371238

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.5295G>A; p.P1765P; 1:10376569-10376569

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.458G>C; p.R153T; 1:10267408-10267408

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1239T>C; p.S413S; 1:10282476-10282476

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.4384A>C; p.T1462P; 1:10365418-10365418

thyroidother; neoplasmSubstitution - Missense

c.2044A>G; p.T682A; 1:10320109-10320109

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3726G>A; p.Q1242Q; 1:10347827-10347827

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2871G>A; p.R957R; 1:10334604-10334604

skinmalignant_melanomaSubstitution - coding silent

c.5241C>T; p.A1747A; 1:10375344-10375344

skinmalignant_melanomaSubstitution - coding silent

c.4191A>G; p.E1397E; 1:10363307-10363307

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.4406G>A; p.R1469H; 1:10365440-10365440

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.2349C>G; p.V783V; 1:10324012-10324012

oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.3721C>T; p.H1241Y; 1:10347822-10347822

thyroidother; neoplasmSubstitution - Missense

c.4464C>T; p.L1488L; 1:10365498-10365498

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.4942G>C; p.E1648Q; 1:10374449-10374449

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.338A>C; p.E113A; 1:10258647-10258647

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.504G>A; p.V168V; 1:10267454-10267454

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1910A>T; p.Q637L; 1:10297179-10297179

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.504G>A; p.V168V; 1:10267454-10267454

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3050T>C; p.I1017T; 1:10337132-10337132

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.5037_5038CC>TT; p.R1680C; 1:10374932-10374933

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.380T>G; p.F127C; 1:10261921-10261921

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.617C>A; p.A206E; 1:10268160-10268160

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.4826C>T; p.S1609F; 1:10374333-10374333

skinmalignant_melanomaSubstitution - Missense

c.93A>G; p.Q31Q; 1:10232421-10232421

livercarcinomaSubstitution - coding silent

c.350G>A; p.G117D; 1:10258659-10258659

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2116C>T; p.R706W; 1:10321753-10321753

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.4113A>T; p.P1371P; 1:10361772-10361772

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.416C>G; p.S139C; 1:10261957-10261957

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.4753C>A; p.P1585T; 1:10371207-10371207

skinmalignant_melanomaSubstitution - Missense

c.2854G>C; p.E952Q; 1:10334587-10334587

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2747C>T; p.P916L; 1:10326320-10326320

skinmalignant_melanomaSubstitution - Missense

c.3189C>T; p.N1063N; 1:10337438-10337438

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.5152-2A>C; p.?; 1:10375253-10375253

endometriumcarcinoma; endometrioid_carcinomaUnknown

c.3608A>C; p.K1203T; 1:10345902-10345902

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2748G>A; p.P916P; 1:10326321-10326321

oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.3296G>A; p.R1099H; 1:10339780-10339780

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.3094G>A; p.E1032K; 1:10337176-10337176

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.970G>T; p.A324S; 1:10276350-10276350

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2420G>A; p.R807Q; 1:10324778-10324778

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.984G>T; p.A328A; 1:10276364-10276364

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.499C>T; p.R167C; 1:10267449-10267449

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.622A>G; p.T208A; 1:10268165-10268165

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4039C>T; p.H1347Y; 1:10361698-10361698

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2747C>G; p.P916R; 1:10326320-10326320

skin; head_neckmalignant_melanoma; superficial_spreadingSubstitution - Missense

c.2374C>T; p.H792Y; 1:10324037-10324037

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.4957A>C; p.S1653R; 1:10374464-10374464

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.4387C>A; p.R1463S; 1:10365421-10365421

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2272C>T; p.P758S; 1:10323935-10323935

skinmalignant_melanomaSubstitution - Missense

c.2737G>A; p.G913R; 1:10326310-10326310

pancreascarcinomaSubstitution - Missense

c.2610C>T; p.A870A; 1:10326183-10326183

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2737G>A; p.G913R; 1:10326310-10326310

pancreascarcinomaSubstitution - Missense

c.4374+2T>C; p.?; 1:10365247-10365247

ovarycarcinoma; serous_carcinomaUnknown

c.3814C>T; p.R1272C; 1:10352633-10352633

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.4439T>C; p.L1480P; 1:10365473-10365473

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2821G>A; p.V941M; 1:10334554-10334554

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3830C>A; p.P1277H; 1:10352649-10352649

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.4189G>A; p.E1397K; 1:10363305-10363305

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3376-5T>A; p.?; 1:10342045-10342045

livercarcinomaUnknown

c.3376-5T>A; p.?; 1:10342045-10342045

livercarcinomaUnknown

c.4189G>A; p.E1397K; 1:10363305-10363305

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2733_2741delTGACGGGCA; p.G913_D915delGHD; 1:10326306-10326314

pancreascarcinoma; ductal_carcinomaDeletion - In frame

c.924C>T; p.L308L; 1:10275487-10275487

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.3542C>A; p.S1181Y; 1:10343279-10343279

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2616C>T; p.S872S; 1:10326189-10326189

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.5042G>T; p.R1681L; 1:10374937-10374937

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1730G>A; p.R577H; 1:10296903-10296903

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.3327C>T; p.L1109L; 1:10339811-10339811

skinmalignant_melanomaSubstitution - coding silent

c.2606C>T; p.T869M; 1:10326179-10326179

central_nervous_system; braingliomaSubstitution - Missense

c.4567G>C; p.G1523R; 1:10365601-10365601

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2316G>T; p.R772S; 1:10323979-10323979

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2606C>T; p.T869M; 1:10326179-10326179

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1644C>T; p.I548I; 1:10296586-10296586

skinmalignant_melanomaSubstitution - coding silent

c.4242G>A; p.R1414R; 1:10365113-10365113

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1838G>T; p.W613L; 1:10297011-10297011

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.45C>T; p.F15F; 1:10232373-10232373

pancreascarcinomaSubstitution - coding silent

c.5303C>T; p.S1768L; 1:10376577-10376577

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1652T>G; p.L551*; 1:10296594-10296594

prostatecarcinomaSubstitution - Nonsense

c.190G>A; p.D64N; 1:10258499-10258499

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2727C>G; p.L909L; 1:10326300-10326300

oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.4984C>A; p.L1662I; 1:10374879-10374879

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3623T>C; p.V1208A; 1:10345917-10345917

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2472C>T; p.S824S; 1:10324830-10324830

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1259C>G; p.S420C; 1:10282496-10282496

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.552G>A; p.L184L; 1:10267502-10267502

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.4275T>A; p.Y1425*; 1:10365146-10365146

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense


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