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

Basic Information

Gene ID

1105

Name

CHD1

Synonymous

chromodomain helicase DNA binding protein 1;CHD1;chromodomain helicase DNA binding protein 1

Definition

ATP-dependent helicase CHD1|CHD-1|chromodomain-helicase-DNA-binding protein 1

Position

5q15-q21

Gene Type

protein-coding

Mutation summary:

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

Mutation summary in protein domains

Top

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

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

Top

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

Loss of Function mutations compare to missense mutations

Top

Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.14.

The copy number variations for various cancers

Top

The copy number variations in 17 major cancer groups: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.2088C>T; p.R696R; 5:98892617-98892617

 skinmalignant_melanomaSubstitution - coding silent

c.683A>G; p.D228G; 5:98900987-98900987

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.4847G>T; p.R1616M; 5:98856666-98856666

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.932A>G; p.K311R; 5:98899633-98899633

 breastcarcinomaSubstitution - Missense

c.184_187delTCAG; p.E63fs*185; 5:98904965-98904968

 kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - Frameshift

c.4641T>A; p.D1547E; 5:98858326-98858326

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.4285A>C; p.K1429Q; 5:98863550-98863550

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.59C>T; p.S20L; 5:98905093-98905093

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.4312C>T; p.L1438F; 5:98863523-98863523

 skinmalignant_melanomaSubstitution - Missense

c.3861G>A; p.K1287K; 5:98872051-98872051

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.655G>A; p.D219N; 5:98901015-98901015

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3254G>A; p.S1085N; 5:98876542-98876542

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.4234A>T; p.K1412*; 5:98868509-98868509

 breastcarcinoma; ductal_carcinomaSubstitution - Nonsense

c.4100A>G; p.D1367G; 5:98869761-98869761

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1528C>A; p.L510I; 5:98896408-98896408

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3978+1G>T; p.?; 5:98870686-98870686

 prostatecarcinomaUnknown

c.4877G>C; p.R1626T; 5:98856636-98856636

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.213A>C; p.E71D; 5:98904939-98904939

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.4241T>A; p.F1414Y; 5:98868502-98868502

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2950G>A; p.E984K; 5:98881293-98881293

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.3239T>C; p.I1080T; 5:98876557-98876557

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3912C>T; p.T1304T; 5:98870753-98870753

 skinmalignant_melanomaSubstitution - coding silent

c.4138A>T; p.R1380*; 5:98868605-98868605

 livercarcinomaSubstitution - Nonsense

c.1A>G; p.M1V; 5:98926386-98926386

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4138A>T; p.R1380*; 5:98868605-98868605

 livercarcinomaSubstitution - Nonsense

c.201C>A; p.D67E; 5:98904951-98904951

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.4830C>T; p.H1610H; 5:98856683-98856683

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3G>T; p.M1I; 5:98926384-98926384

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.5020G>T; p.G1674C; 5:98856493-98856493

 skin; earcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2302C>T; p.P768S; 5:98889117-98889117

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3942T>C; p.S1314S; 5:98870723-98870723

 skin; trunkmalignant_melanoma; nodularSubstitution - coding silent

c.3G>T; p.M1I; 5:98926384-98926384

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3710A>G; p.Q1237R; 5:98872417-98872417

 skinmalignant_melanomaSubstitution - Missense

c.2080C>T; p.L694L; 5:98892625-98892625

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.3427G>T; p.G1143C; 5:98875085-98875085

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.4086G>A; p.K1362K; 5:98869775-98869775

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1642G>A; p.E548K; 5:98896294-98896294

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4086G>A; p.K1362K; 5:98869775-98869775

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.513_514delGA; p.S173fs*3; 5:98901259-98901260

 NSmalignant_melanomaDeletion - Frameshift

c.2729A>G; p.Y910C; 5:98882113-98882113

 livercarcinomaSubstitution - Missense

c.3083A>G; p.D1028G; 5:98879706-98879706

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1591G>T; p.G531*; 5:98896345-98896345

 skinmalignant_melanomaSubstitution - Nonsense

c.3416A>C; p.K1139T; 5:98875096-98875096

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.373-6C>G; p.?; 5:98902970-98902970

 pancreascarcinomaUnknown

c.867T>C; p.G289G; 5:98899698-98899698

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.417C>G; p.V139V; 5:98902920-98902920

 breastcarcinomaSubstitution - coding silent

c.1860G>T; p.K620N; 5:98893547-98893547

 breastcarcinomaSubstitution - Missense

c.4540A>G; p.N1514D; 5:98859000-98859000

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1573C>T; p.H525Y; 5:98896363-98896363

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1038G>T; p.M346I; 5:98899527-98899527

 skinmalignant_melanomaSubstitution - Missense

c.697C>T; p.R233C; 5:98900973-98900973

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2609G>T; p.G870V; 5:98883197-98883197

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1162T>C; p.Y388H; 5:98898688-98898688

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2227G>C; p.G743R; 5:98889192-98889192

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.2432C>T; p.S811L; 5:98888152-98888152

 skinmalignant_melanomaSubstitution - Missense

c.4627A>G; p.S1543G; 5:98858340-98858340

 prostatecarcinomaSubstitution - Missense

c.4490A>G; p.Y1497C; 5:98860006-98860006

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.4832G>T; p.R1611M; 5:98856681-98856681

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3295G>T; p.D1099Y; 5:98876501-98876501

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2396G>A; p.R799H; 5:98888188-98888188

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.5084T>C; p.V1695A; 5:98856429-98856429

 livercarcinomaSubstitution - Missense

c.285C>T; p.A95A; 5:98903879-98903879

 ovaryother; neoplasmSubstitution - coding silent

c.1135G>A; p.E379K; 5:98898715-98898715

 breastcarcinomaSubstitution - Missense

c.3346C>T; p.R1116W; 5:98876450-98876450

 prostatecarcinomaSubstitution - Missense

c.629_630insA; p.R211fs*4; 5:98901040-98901041

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.2556T>C; p.A852A; 5:98885590-98885590

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.5040T>C; p.D1680D; 5:98856473-98856473

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.4902C>G; p.H1634Q; 5:98856611-98856611

 livercarcinomaSubstitution - Missense

c.5040T>C; p.D1680D; 5:98856473-98856473

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.4902C>G; p.H1634Q; 5:98856611-98856611

 livercarcinomaSubstitution - Missense

c.929delA; p.N310fs*10; 5:98899636-98899636

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.882C>T; p.I294I; 5:98899683-98899683

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1871C>G; p.S624C; 5:98893536-98893536

 breastcarcinomaSubstitution - Missense

c.4882C>T; p.H1628Y; 5:98856631-98856631

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.4654C>A; p.Q1552K; 5:98858313-98858313

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4740T>C; p.S1580S; 5:98858227-98858227

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.3348G>A; p.R1116R; 5:98876448-98876448

 skinmalignant_melanomaSubstitution - coding silent

c.4918C>T; p.H1640Y; 5:98856595-98856595

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.3566G>A; p.R1189Q; 5:98873598-98873598

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.4872A>C; p.K1624N; 5:98856641-98856641

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2089C>T; p.R697*; 5:98892616-98892616

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.3566G>A; p.R1189Q; 5:98873598-98873598

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3566G>A; p.R1189Q; 5:98873598-98873598

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.5050_5052delCCT; p.P1684delP; 5:98856461-98856463

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; NK-T_cell_lymphomaDeletion - In frame

c.3566G>A; p.R1189Q; 5:98873598-98873598

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3566G>A; p.R1189Q; 5:98873598-98873598

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4162G>A; p.D1388N; 5:98868581-98868581

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3820G>A; p.E1274K; 5:98872092-98872092

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.688A>C; p.R230R; 5:98900982-98900982

 breastcarcinomaSubstitution - coding silent

c.4644A>T; p.R1548S; 5:98858323-98858323

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.995G>C; p.W332S; 5:98899570-98899570

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4390G>T; p.E1464*; 5:98863445-98863445

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.3099G>T; p.E1033D; 5:98879690-98879690

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4634C>T; p.S1545F; 5:98858333-98858333

 skinmalignant_melanomaSubstitution - Missense

c.3189A>G; p.E1063E; 5:98879600-98879600

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2059C>A; p.H687N; 5:98892646-98892646

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.841C>A; p.R281R; 5:98900829-98900829

 livercarcinomaSubstitution - coding silent

c.841C>A; p.R281R; 5:98900829-98900829

 livercarcinomaSubstitution - coding silent

c.4574C>G; p.P1525R; 5:98858966-98858966

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3215G>A; p.R1072K; 5:98879574-98879574

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.71C>T; p.S24F; 5:98905081-98905081

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1495G>A; p.G499R; 5:98896441-98896441

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4228G>A; p.D1410N; 5:98868515-98868515

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.4228G>A; p.D1410N; 5:98868515-98868515

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.4259G>T; p.R1420I; 5:98863576-98863576

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1095T>C; p.N365N; 5:98898755-98898755

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2181-4delT; p.?; 5:98889242-98889242

 ovarycarcinoma; serous_carcinomaUnknown

c.346G>A; p.A116T; 5:98903818-98903818

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.3238-1G>C; p.?; 5:98876559-98876559

 prostatecarcinomaUnknown

c.612G>T; p.K204N; 5:98901058-98901058

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2838_2839delAG; p.V947fs*15; 5:98882003-98882004

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.4146G>T; p.K1382N; 5:98868597-98868597

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.377C>T; p.S126F; 5:98902960-98902960

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2189delT; p.L730fs*1; 5:98889230-98889230

 skin; head_neckcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.610A>G; p.K204E; 5:98901060-98901060

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.4721G>T; p.R1574I; 5:98858246-98858246

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4721G>T; p.R1574I; 5:98858246-98858246

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.4721G>T; p.R1574I; 5:98858246-98858246

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.4721G>T; p.R1574I; 5:98858246-98858246

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2699G>A; p.R900Q; 5:98883107-98883107

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2699G>A; p.R900Q; 5:98883107-98883107

 breastcarcinomaSubstitution - Missense

c.107C>G; p.S36C; 5:98905045-98905045

 breastcarcinomaSubstitution - Missense

c.2699G>A; p.R900Q; 5:98883107-98883107

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.3960delA; p.E1321fs*22; 5:98870705-98870705

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.4556C>G; p.P1519R; 5:98858984-98858984

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3960delA; p.E1321fs*22; 5:98870705-98870705

 stomachadenocarcinomaDeletion - Frameshift

c.3960delA; p.E1321fs*22; 5:98870705-98870705

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.3960delA; p.E1321fs*22; 5:98870705-98870705

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2452_2454delGAT; p.D818delD; 5:98888130-98888132

 breastcarcinomaDeletion - In frame

c.3960delA; p.E1321fs*22; 5:98870705-98870705

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.3960delA; p.E1321fs*22; 5:98870705-98870705

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.3960delA; p.E1321fs*22; 5:98870705-98870705

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.3960delA; p.E1321fs*22; 5:98870705-98870705

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.3960delA; p.E1321fs*22; 5:98870705-98870705

 stomachadenocarcinomaDeletion - Frameshift

c.3177A>G; p.E1059E; 5:98879612-98879612

 endometriumcarcinoma; serous_carcinomaSubstitution - coding silent

c.2890G>A; p.E964K; 5:98881353-98881353

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3662T>G; p.L1221*; 5:98872465-98872465

 prostateadenomaSubstitution - Nonsense

c.1114G>T; p.E372*; 5:98898736-98898736

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Nonsense

c.2090G>A; p.R697Q; 5:98892615-98892615

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.2334G>C; p.E778D; 5:98889085-98889085

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.580C>G; p.Q194E; 5:98901193-98901193

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2776G>A; p.A926T; 5:98882066-98882066

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.3117T>A; p.N1039K; 5:98879672-98879672

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.4950G>T; p.T1650T; 5:98856563-98856563

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.2404G>A; p.E802K; 5:98888180-98888180

 kidneyother; neoplasmSubstitution - Missense

c.4016A>G; p.N1339S; 5:98869845-98869845

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.2404G>A; p.E802K; 5:98888180-98888180

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.3246C>T; p.F1082F; 5:98876550-98876550

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.397G>A; p.D133N; 5:98902940-98902940

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4025T>C; p.M1342T; 5:98869836-98869836

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.4025T>C; p.M1342T; 5:98869836-98869836

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.4025T>C; p.M1342T; 5:98869836-98869836

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2732G>A; p.R911H; 5:98882110-98882110

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.3695C>T; p.P1232L; 5:98872432-98872432

 skinmalignant_melanomaSubstitution - Missense

c.1097C>T; p.A366V; 5:98898753-98898753

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1565A>G; p.Y522C; 5:98896371-98896371

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1097C>T; p.A366V; 5:98898753-98898753

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.732G>A; p.E244E; 5:98900938-98900938

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.3791G>A; p.G1264D; 5:98872121-98872121

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.436G>C; p.D146H; 5:98902901-98902901

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3960_3961insA; p.E1321fs*17; 5:98870704-98870705

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1731G>A; p.T577T; 5:98894666-98894666

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1339A>C; p.K447Q; 5:98898282-98898282

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1494-10_1494-9insT; p.?; 5:98896451-98896452

 stomachadenocarcinomaUnknown

c.2034G>A; p.G678G; 5:98892671-98892671

 breastcarcinomaSubstitution - coding silent

c.2196G>T; p.R732S; 5:98889223-98889223

 breastcarcinomaSubstitution - Missense

c.503A>G; p.E168G; 5:98901270-98901270

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.5038G>T; p.D1680Y; 5:98856475-98856475

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.5038G>T; p.D1680Y; 5:98856475-98856475

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.5038G>T; p.D1680Y; 5:98856475-98856475

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.2589C>T; p.S863S; 5:98883217-98883217

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3752T>C; p.I1251T; 5:98872160-98872160

 central_nervous_system; braingliomaSubstitution - Missense

c.2441T>C; p.V814A; 5:98888143-98888143

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.3335G>A; p.R1112H; 5:98876461-98876461

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4501A>G; p.I1501V; 5:98859995-98859995

 livercarcinomaSubstitution - Missense

c.4501A>G; p.I1501V; 5:98859995-98859995

 livercarcinomaSubstitution - Missense

c.4562T>C; p.V1521A; 5:98858978-98858978

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.4734T>G; p.S1578S; 5:98858233-98858233

 pancreasNSSubstitution - coding silent

c.1970T>A; p.L657Q; 5:98893437-98893437

 livercarcinomaSubstitution - Missense

c.4734T>G; p.S1578S; 5:98858233-98858233

 pancreascarcinomaSubstitution - coding silent

c.4335G>A; p.E1445E; 5:98863500-98863500

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.4335G>A; p.E1445E; 5:98863500-98863500

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.986A>G; p.H329R; 5:98899579-98899579

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1538C>A; p.T513K; 5:98896398-98896398

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1538C>A; p.T513K; 5:98896398-98896398

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.2479C>T; p.R827C; 5:98888105-98888105

 skinmalignant_melanomaSubstitution - Missense

c.256-1G>T; p.?; 5:98903909-98903909

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.396C>T; p.S132S; 5:98902941-98902941

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.2965-7A>C; p.?; 5:98881178-98881178

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.5085T>C; p.V1695V; 5:98856428-98856428

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2506G>A; p.G836R; 5:98885640-98885640

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1747C>T; p.R583W; 5:98894650-98894650

 skinmalignant_melanomaSubstitution - Missense

c.2244T>G; p.F748L; 5:98889175-98889175

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.3457C>T; p.R1153*; 5:98873707-98873707

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.114delC; p.S38fs*211; 5:98905038-98905038

 livercarcinomaDeletion - Frameshift

c.481G>T; p.G161C; 5:98901292-98901292

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.4358A>T; p.K1453I; 5:98863477-98863477

 livercarcinomaSubstitution - Missense

c.1490G>A; p.C497Y; 5:98897196-98897196

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3875A>T; p.D1292V; 5:98870790-98870790

 livercarcinomaSubstitution - Missense

c.3875A>T; p.D1292V; 5:98870790-98870790

 livercarcinomaSubstitution - Missense

c.689G>T; p.R230I; 5:98900981-98900981

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.4255G>T; p.E1419*; 5:98863580-98863580

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.4174C>T; p.H1392Y; 5:98868569-98868569

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1894G>A; p.D632N; 5:98893513-98893513

 skinmalignant_melanomaSubstitution - Missense

c.1189C>G; p.H397D; 5:98898432-98898432

 breastcarcinoma; HER-positive_carcinomaSubstitution - Missense

c.3658G>T; p.E1220*; 5:98872469-98872469

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.3313G>A; p.E1105K; 5:98876483-98876483

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2303C>T; p.P768L; 5:98889116-98889116

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1918C>T; p.L640F; 5:98893489-98893489

 skinmalignant_melanomaSubstitution - Missense

c.3563A>G; p.E1188G; 5:98873601-98873601

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.4378G>C; p.E1460Q; 5:98863457-98863457

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.602delA; p.N201fs*48; 5:98901068-98901068

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.3358C>T; p.R1120W; 5:98876438-98876438

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.3874G>C; p.D1292H; 5:98870791-98870791

 livercarcinomaSubstitution - Missense

c.2544T>C; p.D848D; 5:98885602-98885602

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1728G>T; p.W576C; 5:98894669-98894669

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.3874G>C; p.D1292H; 5:98870791-98870791

 livercarcinomaSubstitution - Missense

c.4108-6C>G; p.?; 5:98868641-98868641

 ovaryother; neoplasmUnknown

c.665_666insTGA; p.D221_E222insD; 5:98901004-98901005

 large_intestine; caecumcarcinoma; adenocarcinomaInsertion - In frame

c.629delA; p.K210fs*39; 5:98901041-98901041

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.4153T>G; p.S1385A; 5:98868590-98868590

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.629delA; p.K210fs*39; 5:98901041-98901041

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.629delA; p.K210fs*39; 5:98901041-98901041

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.629delA; p.K210fs*39; 5:98901041-98901041

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.5043G>A; p.Q1681Q; 5:98856470-98856470

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.3074C>G; p.S1025*; 5:98879715-98879715

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.1637A>C; p.Q546P; 5:98896299-98896299

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1178G>A; p.R393H; 5:98898672-98898672

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2577C>A; p.C859*; 5:98883229-98883229

 NSNSSubstitution - Nonsense

c.698G>A; p.R233H; 5:98900972-98900972

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1056T>A; p.Y352*; 5:98899509-98899509

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.4428-2A>G; p.?; 5:98860070-98860070

 urinary_tract; bladdercarcinomaUnknown

c.5039A>G; p.D1680G; 5:98856474-98856474

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1349C>A; p.P450H; 5:98898272-98898272

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3809A>G; p.Y1270C; 5:98872103-98872103

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.3066C>T; p.A1022A; 5:98879723-98879723

 lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.434A>C; p.K145T; 5:98902903-98902903

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1214G>T; p.G405V; 5:98898407-98898407

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.611A>G; p.K204R; 5:98901059-98901059

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.3951T>G; p.L1317L; 5:98870714-98870714

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.3295G>C; p.D1099H; 5:98876501-98876501

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.5010T>G; p.A1670A; 5:98856503-98856503

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1102C>T; p.P368S; 5:98898748-98898748

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.3272G>A; p.R1091K; 5:98876524-98876524

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.269G>A; p.S90N; 5:98903895-98903895

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2129T>C; p.V710A; 5:98892576-98892576

 parathyroidadenomaSubstitution - Missense

c.2129T>C; p.V710A; 5:98892576-98892576

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; polycythaemia_veraSubstitution - Missense

c.4491T>A; p.Y1497*; 5:98860005-98860005

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

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