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

Basic Information

Gene ID

11083

Name

DIDO1

Synonymous

death inducer-obliterator 1;DIDO1;death inducer-obliterator 1

Definition

death-associated transcription factor 1|death-inducer obliterator 1

Position

20q13.33

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 0.08.

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.1477G>A; p.G493R; 20:62905998-62905998

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.4225G>T; p.E1409*; 20:62881731-62881731

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.4685A>T; p.Q1562L; 20:62881271-62881271

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.4551G>T; p.S1517S; 20:62881405-62881405

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.4152A>G; p.P1384P; 20:62881804-62881804

breastcarcinomaSubstitution - coding silent

c.248G>A; p.R83H; 20:62911365-62911365

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1366G>A; p.G456S; 20:62907155-62907155

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.3779C>T; p.S1260L; 20:62882177-62882177

skinmalignant_melanomaSubstitution - Missense

c.248G>A; p.R83H; 20:62911365-62911365

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.5299C>T; p.H1767Y; 20:62880657-62880657

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.6146C>T; p.A2049V; 20:62879810-62879810

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.6020C>T; p.S2007L; 20:62879936-62879936

skinmalignant_melanomaSubstitution - Missense

c.5543C>T; p.P1848L; 20:62880413-62880413

skinmalignant_melanomaSubstitution - Missense

c.2647T>C; p.L883L; 20:62894120-62894120

pancreascarcinomaSubstitution - coding silent

c.6523C>A; p.R2175R; 20:62879433-62879433

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2914C>T; p.P972S; 20:62893853-62893853

skinmalignant_melanomaSubstitution - Missense

c.2914C>T; p.P972S; 20:62893853-62893853

skinmalignant_melanomaSubstitution - Missense

c.6020C>T; p.S2007L; 20:62879936-62879936

skinmalignant_melanomaSubstitution - Missense

c.2647T>C; p.L883L; 20:62894120-62894120

pancreascarcinomaSubstitution - coding silent

c.2647T>C; p.L883L; 20:62894120-62894120

pancreascarcinoma; ductal_carcinomaSubstitution - coding silent

c.3439G>T; p.G1147C; 20:62891062-62891062

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4605C>G; p.F1535L; 20:62881351-62881351

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1715delC; p.S572fs*67; 20:62896870-62896870

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.5652C>T; p.G1884G; 20:62880304-62880304

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1622C>T; p.A541V; 20:62896963-62896963

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1622C>T; p.A541V; 20:62896963-62896963

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.5324G>C; p.R1775T; 20:62880632-62880632

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.32A>T; p.E11V; 20:62911581-62911581

adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - Missense

c.1702C>T; p.P568S; 20:62896883-62896883

skinmalignant_melanomaSubstitution - Missense

c.2581C>T; p.P861S; 20:62894186-62894186

skinmalignant_melanomaSubstitution - Missense

c.1702C>T; p.P568S; 20:62896883-62896883

skinmalignant_melanomaSubstitution - Missense

c.664G>A; p.D222N; 20:62910949-62910949

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2892C>T; p.S964S; 20:62893875-62893875

skinmalignant_melanomaSubstitution - coding silent

c.633C>T; p.G211G; 20:62910980-62910980

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2892C>T; p.S964S; 20:62893875-62893875

prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.633C>T; p.G211G; 20:62910980-62910980

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3986A>T; p.D1329V; 20:62881970-62881970

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.792C>T; p.Y264Y; 20:62910821-62910821

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.664G>A; p.D222N; 20:62910949-62910949

thyroidcarcinomaSubstitution - Missense

c.5359G>A; p.A1787T; 20:62880597-62880597

skinmalignant_melanomaSubstitution - Missense

c.210C>T; p.R70R; 20:62911403-62911403

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1412C>A; p.A471D; 20:62906063-62906063

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.418G>C; p.E140Q; 20:62911195-62911195

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.6296C>A; p.P2099Q; 20:62879660-62879660

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3791C>T; p.P1264L; 20:62882165-62882165

skinmalignant_melanomaSubstitution - Missense

c.453C>T; p.T151T; 20:62911160-62911160

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.3218C>T; p.A1073V; 20:62892846-62892846

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3218C>T; p.A1073V; 20:62892846-62892846

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2496C>T; p.V832V; 20:62894489-62894489

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.3541+6C>T; p.?; 20:62890954-62890954

endometriumcarcinoma; endometrioid_carcinomaUnknown

c.3541+6C>T; p.?; 20:62890954-62890954

large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.3776G>T; p.G1259V; 20:62882180-62882180

urinary_tract; bladdercarcinomaSubstitution - Missense

c.3218C>T; p.A1073V; 20:62892846-62892846

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.6619C>T; p.R2207W; 20:62879337-62879337

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.5649C>T; p.G1883G; 20:62880307-62880307

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.6184G>A; p.D2062N; 20:62879772-62879772

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4220G>A; p.R1407H; 20:62881736-62881736

skinmalignant_melanomaSubstitution - Missense

c.6358G>A; p.G2120S; 20:62879598-62879598

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3102-1G>T; p.?; 20:62892963-62892963

oesophagus; lower_thirdcarcinoma; adenocarcinomaUnknown

c.1979G>A; p.S660N; 20:62896606-62896606

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.4516G>A; p.A1506T; 20:62881440-62881440

breastcarcinomaSubstitution - Missense

c.5058G>A; p.P1686P; 20:62880898-62880898

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.4862C>T; p.S1621L; 20:62881094-62881094

urinary_tract; bladdercarcinomaSubstitution - Missense

c.6349C>T; p.R2117C; 20:62879607-62879607

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1148A>C; p.K383T; 20:62909712-62909712

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.6161C>T; p.A2054V; 20:62879795-62879795

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.6161C>T; p.A2054V; 20:62879795-62879795

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.908G>A; p.R303Q; 20:62909952-62909952

NSNSSubstitution - Missense

c.1631T>C; p.M544T; 20:62896954-62896954

breastcarcinomaSubstitution - Missense

c.5388G>C; p.P1796P; 20:62880568-62880568

thyroidother; neoplasmSubstitution - coding silent

c.1008G>T; p.Q336H; 20:62909852-62909852

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.4061T>G; p.V1354G; 20:62881895-62881895

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3496G>A; p.A1166T; 20:62891005-62891005

pancreascarcinomaSubstitution - Missense

c.1389C>A; p.I463I; 20:62906086-62906086

breastcarcinomaSubstitution - coding silent

c.697G>A; p.D233N; 20:62910916-62910916

breastcarcinomaSubstitution - Missense

c.4057G>A; p.G1353R; 20:62881899-62881899

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.3595delA; p.I1199fs*10; 20:62882361-62882361

large_intestine; rectumcarcinoma; adenocarcinomaDeletion - Frameshift

c.3595delA; p.I1199fs*10; 20:62882361-62882361

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.4008C>T; p.P1336P; 20:62881948-62881948

skin; neckmalignant_melanomaSubstitution - coding silent

c.5426C>A; p.S1809Y; 20:62880530-62880530

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1804G>A; p.A602T; 20:62896781-62896781

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.4275C>A; p.A1425A; 20:62881681-62881681

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.4932C>T; p.P1644P; 20:62881024-62881024

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.4618C>T; p.Q1540*; 20:62881338-62881338

oesophaguscarcinoma; adenocarcinomaSubstitution - Nonsense

c.638T>C; p.L213P; 20:62910975-62910975

skinmalignant_melanomaSubstitution - Missense

c.4407G>A; p.T1469T; 20:62881549-62881549

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.77C>T; p.T26I; 20:62911536-62911536

breastcarcinomaSubstitution - Missense

c.1568C>T; p.S523L; 20:62905907-62905907

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2535C>T; p.R845R; 20:62894450-62894450

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.4430A>C; p.K1477T; 20:62881526-62881526

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.4065G>T; p.P1355P; 20:62881891-62881891

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.2319G>C; p.R773S; 20:62895061-62895061

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3082C>T; p.P1028S; 20:62893685-62893685

skinmalignant_melanomaSubstitution - Missense

c.6228C>T; p.H2076H; 20:62879728-62879728

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - coding silent

c.483G>C; p.L161F; 20:62911130-62911130

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.4548G>T; p.V1516V; 20:62881408-62881408

oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.4983C>T; p.P1661P; 20:62880973-62880973

skinmalignant_melanomaSubstitution - coding silent

c.326C>T; p.T109I; 20:62911287-62911287

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.901G>A; p.E301K; 20:62909959-62909959

urinary_tract; bladdercarcinomaSubstitution - Missense

c.374C>A; p.P125H; 20:62911239-62911239

oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1770C>T; p.F590F; 20:62896815-62896815

skinmalignant_melanomaSubstitution - coding silent

c.4372G>T; p.E1458*; 20:62881584-62881584

lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.5054G>T; p.C1685F; 20:62880902-62880902

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.175C>T; p.L59L; 20:62911438-62911438

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.175C>T; p.L59L; 20:62911438-62911438

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.175C>T; p.L59L; 20:62911438-62911438

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.6248_6249insT; p.E2084fs*9; 20:62879707-62879708

endometriumcarcinoma; endometrioid_carcinomaInsertion - Frameshift

c.3394G>A; p.A1132T; 20:62891107-62891107

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.4897G>A; p.G1633S; 20:62881059-62881059

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.6175C>G; p.P2059A; 20:62879781-62879781

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.3660G>T; p.P1220P; 20:62882296-62882296

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.5901C>T; p.F1967F; 20:62880055-62880055

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.3733C>T; p.P1245S; 20:62882223-62882223

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.5549G>C; p.G1850A; 20:62880407-62880407

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.5901C>T; p.F1967F; 20:62880055-62880055

skinmalignant_melanomaSubstitution - coding silent

c.1545G>T; p.K515N; 20:62905930-62905930

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.6066C>T; p.G2022G; 20:62879890-62879890

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.4097A>T; p.Q1366L; 20:62881859-62881859

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.5769C>T; p.F1923F; 20:62880187-62880187

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.4406C>T; p.T1469M; 20:62881550-62881550

pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.4952C>T; p.S1651L; 20:62881004-62881004

skinmalignant_melanomaSubstitution - Missense

c.2176C>T; p.R726C; 20:62896271-62896271

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.5139C>T; p.S1713S; 20:62880817-62880817

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2176C>T; p.R726C; 20:62896271-62896271

skinmalignant_melanomaSubstitution - Missense

c.1425_1426insA; p.E476fs*15; 20:62906049-62906050

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.473G>T; p.G158V; 20:62911140-62911140

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.5200G>T; p.A1734S; 20:62880756-62880756

autonomic_ganglianeuroblastomaSubstitution - Missense

c.3957G>A; p.Q1319Q; 20:62881999-62881999

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1658C>T; p.P553L; 20:62896927-62896927

NSmalignant_melanomaSubstitution - Missense

c.1978A>G; p.S660G; 20:62896607-62896607

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.219C>T; p.R73R; 20:62911394-62911394

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.6326C>T; p.A2109V; 20:62879630-62879630

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3373G>A; p.A1125T; 20:62891128-62891128

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.5247G>A; p.P1749P; 20:62880709-62880709

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.3505C>A; p.P1169T; 20:62890996-62890996

ovarycarcinomaSubstitution - Missense

c.5161G>C; p.G1721R; 20:62880795-62880795

biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - Missense

c.6357C>T; p.R2119R; 20:62879599-62879599

large_intestine; rectumadenomaSubstitution - coding silent

c.4521C>T; p.V1507V; 20:62881435-62881435

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.4225G>A; p.E1409K; 20:62881731-62881731

urinary_tract; bladdercarcinomaSubstitution - Missense

c.4225G>A; p.E1409K; 20:62881731-62881731

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.878A>G; p.H293R; 20:62909982-62909982

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2553C>T; p.L851L; 20:62894432-62894432

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1525C>T; p.H509Y; 20:62905950-62905950

skinmalignant_melanomaSubstitution - Missense

c.1940C>T; p.P647L; 20:62896645-62896645

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2984G>C; p.R995T; 20:62893783-62893783

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2011C>T; p.R671W; 20:62896574-62896574

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.5400C>T; p.F1800F; 20:62880556-62880556

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2011C>T; p.R671W; 20:62896574-62896574

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2327G>A; p.R776K; 20:62895053-62895053

NSNSSubstitution - Missense

c.1992G>A; p.S664S; 20:62896593-62896593

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.5998G>A; p.E2000K; 20:62879958-62879958

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.5996C>T; p.S1999F; 20:62879960-62879960

skinmalignant_melanomaSubstitution - Missense

c.5435C>T; p.S1812L; 20:62880521-62880521

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.5338C>T; p.P1780S; 20:62880618-62880618

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.663C>T; p.N221N; 20:62910950-62910950

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.275_276CC>TT; p.S92F; 20:62911337-62911338

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3119C>T; p.S1040F; 20:62892945-62892945

skin; trunkmalignant_melanomaSubstitution - Missense

c.5056C>T; p.P1686S; 20:62880900-62880900

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.4524G>A; p.G1508G; 20:62881432-62881432

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3914C>T; p.S1305L; 20:62882042-62882042

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.6579G>A; p.R2193R; 20:62879377-62879377

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.3914C>T; p.S1305L; 20:62882042-62882042

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2534G>A; p.R845H; 20:62894451-62894451

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3914C>T; p.S1305L; 20:62882042-62882042

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.3914C>T; p.S1305L; 20:62882042-62882042

skinmalignant_melanomaSubstitution - Missense

c.2236C>T; p.R746C; 20:62895144-62895144

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.6512G>A; p.R2171H; 20:62879444-62879444

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3165C>T; p.T1055T; 20:62892899-62892899

skinmalignant_melanomaSubstitution - coding silent

c.4325A>T; p.D1442V; 20:62881631-62881631

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.5308A>G; p.N1770D; 20:62880648-62880648

skinmalignant_melanomaSubstitution - Missense

c.4509G>A; p.Q1503Q; 20:62881447-62881447

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.172G>T; p.G58C; 20:62911441-62911441

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.6451C>T; p.R2151W; 20:62879505-62879505

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.4024C>T; p.L1342F; 20:62881932-62881932

skinmalignant_melanomaSubstitution - Missense

c.943A>G; p.I315V; 20:62909917-62909917

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.5812C>T; p.R1938W; 20:62880144-62880144

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4172A>G; p.Y1391C; 20:62881784-62881784

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3797delC; p.P1266fs*8; 20:62882159-62882159

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.5824C>T; p.P1942S; 20:62880132-62880132

skinmalignant_melanomaSubstitution - Missense

c.4990C>T; p.P1664S; 20:62880966-62880966

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.5893C>G; p.Q1965E; 20:62880063-62880063

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.4699G>C; p.A1567P; 20:62881257-62881257

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2407G>T; p.E803*; 20:62894839-62894839

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2614_2615insA; p.L874fs*6; 20:62894152-62894153

stomachcarcinoma; diffuse_adenocarcinomaInsertion - Frameshift

c.436G>T; p.D146Y; 20:62911177-62911177

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.5544C>T; p.P1848P; 20:62880412-62880412

skinmalignant_melanomaSubstitution - coding silent

c.2969A>G; p.H990R; 20:62893798-62893798

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2689G>C; p.D897H; 20:62894078-62894078

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1666G>A; p.A556T; 20:62896919-62896919

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1666G>A; p.A556T; 20:62896919-62896919

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1105A>G; p.R369G; 20:62909755-62909755

prostatecarcinomaSubstitution - Missense

c.732G>A; p.Q244Q; 20:62910881-62910881

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2823C>T; p.S941S; 20:62893944-62893944

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.3131delG; p.G1044fs*76; 20:62892933-62892933

skin; head_neckcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.110G>A; p.R37Q; 20:62911503-62911503

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2104A>G; p.I702V; 20:62896343-62896343

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2841C>T; p.S947S; 20:62893926-62893926

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.4927_4928insC; p.R1643fs*37; 20:62881028-62881029

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.4927_4928insC; p.R1643fs*37; 20:62881028-62881029

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.4927_4928insC; p.R1643fs*37; 20:62881028-62881029

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.4927_4928insC; p.R1643fs*37; 20:62881028-62881029

NSmalignant_melanomaInsertion - Frameshift

c.4927_4928insC; p.R1643fs*37; 20:62881028-62881029

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.3707A>G; p.Q1236R; 20:62882249-62882249

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1136A>T; p.K379M; 20:62909724-62909724

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.4854C>T; p.P1618P; 20:62881102-62881102

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2163C>T; p.Y721Y; 20:62896284-62896284

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.4542C>T; p.F1514F; 20:62881414-62881414

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1502G>C; p.S501T; 20:62905973-62905973

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3534G>T; p.E1178D; 20:62890967-62890967

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.6627C>T; p.R2209R; 20:62879329-62879329

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1698C>T; p.L566L; 20:62896887-62896887

oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.4101C>T; p.F1367F; 20:62881855-62881855

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1660G>T; p.G554C; 20:62896925-62896925

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1738A>T; p.T580S; 20:62896847-62896847

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4258G>A; p.E1420K; 20:62881698-62881698

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.543G>A; p.L181L; 20:62911070-62911070

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.4351G>C; p.D1451H; 20:62881605-62881605

urinary_tract; bladdercarcinomaSubstitution - Missense

c.4258G>A; p.E1420K; 20:62881698-62881698

NSNSSubstitution - Missense

c.1839G>T; p.Q613H; 20:62896746-62896746

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.5213C>T; p.P1738L; 20:62880743-62880743

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3999A>G; p.R1333R; 20:62881957-62881957

oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.3482T>G; p.L1161R; 20:62891019-62891019

breastcarcinomaSubstitution - Missense

c.1802C>T; p.S601F; 20:62896783-62896783

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2723C>T; p.P908L; 20:62894044-62894044

skinmalignant_melanomaSubstitution - Missense

c.6665G>A; p.R2222Q; 20:62879291-62879291

skin; mucosalmalignant_melanomaSubstitution - Missense

c.5768T>G; p.F1923C; 20:62880188-62880188

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.4544C>T; p.S1515L; 20:62881412-62881412

oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.6490G>A; p.D2164N; 20:62879466-62879466

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.3718A>C; p.K1240Q; 20:62882238-62882238

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.3270A>C; p.T1090T; 20:62892062-62892062

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.6547C>T; p.R2183*; 20:62879409-62879409

pancreascarcinomaSubstitution - Nonsense

c.2842C>T; p.P948S; 20:62893925-62893925

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2893G>T; p.G965C; 20:62893874-62893874

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3488C>T; p.P1163L; 20:62891013-62891013

skinmalignant_melanomaSubstitution - Missense

c.4711G>A; p.G1571S; 20:62881245-62881245

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2761C>T; p.H921Y; 20:62894006-62894006

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4330C>T; p.L1444L; 20:62881626-62881626

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1145T>G; p.L382R; 20:62909715-62909715

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1358C>T; p.P453L; 20:62907163-62907163

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1358C>T; p.P453L; 20:62907163-62907163

skinmalignant_melanomaSubstitution - Missense

c.1980T>C; p.S660S; 20:62896605-62896605

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.4702A>G; p.T1568A; 20:62881254-62881254

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4702A>G; p.T1568A; 20:62881254-62881254

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.4702A>G; p.T1568A; 20:62881254-62881254

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4702A>G; p.T1568A; 20:62881254-62881254

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.5313C>T; p.F1771F; 20:62880643-62880643

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.4702A>G; p.T1568A; 20:62881254-62881254

thyroidother; neoplasmSubstitution - Missense

c.3192G>C; p.Q1064H; 20:62892872-62892872

urinary_tract; bladdercarcinomaSubstitution - Missense

c.5548G>T; p.G1850W; 20:62880408-62880408

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.5019G>C; p.P1673P; 20:62880937-62880937

thyroidcarcinomaSubstitution - coding silent

c.5870C>T; p.P1957L; 20:62880086-62880086

skinmalignant_melanomaSubstitution - Missense

c.4126C>G; p.L1376V; 20:62881830-62881830

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.6118C>T; p.R2040C; 20:62879838-62879838

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1271C>T; p.A424V; 20:62907250-62907250

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1860G>T; p.A620A; 20:62896725-62896725

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.4847C>T; p.S1616F; 20:62881109-62881109

skinmalignant_melanomaSubstitution - Missense

c.4056C>T; p.D1352D; 20:62881900-62881900

ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.3751G>A; p.A1251T; 20:62882205-62882205

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3751G>A; p.A1251T; 20:62882205-62882205

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.4493A>G; p.E1498G; 20:62881463-62881463

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1715_1717delCTT; p.S572delS; 20:62896868-62896870

large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.3751G>A; p.A1251T; 20:62882205-62882205

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3751G>A; p.A1251T; 20:62882205-62882205

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.4368C>T; p.S1456S; 20:62881588-62881588

skinmalignant_melanomaSubstitution - coding silent

c.5597C>T; p.A1866V; 20:62880359-62880359

pancreascarcinomaSubstitution - Missense

c.6249C>T; p.F2083F; 20:62879707-62879707

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2157T>G; p.N719K; 20:62896290-62896290

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3204A>G; p.K1068K; 20:62892860-62892860

livercarcinomaSubstitution - coding silent

c.3204A>G; p.K1068K; 20:62892860-62892860

livercarcinomaSubstitution - coding silent

c.128C>T; p.A43V; 20:62911485-62911485

livercarcinomaSubstitution - Missense

c.6249C>T; p.F2083F; 20:62879707-62879707

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.128C>T; p.A43V; 20:62911485-62911485

livercarcinomaSubstitution - Missense

c.3813_3814GG>AA; p.V1272M; 20:62882142-62882143

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1140G>A; p.K380K; 20:62909720-62909720

thyroidother; neoplasmSubstitution - coding silent

c.1712_1713delCT; p.S571fs*4; 20:62896872-62896873

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.6165C>T; p.P2055P; 20:62879791-62879791

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - coding silent

c.188G>A; p.R63H; 20:62911425-62911425

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.184C>T; p.R62W; 20:62911429-62911429

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1912G>A; p.V638I; 20:62896673-62896673

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.5158G>A; p.E1720K; 20:62880798-62880798

urinary_tract; bladdercarcinomaSubstitution - Missense

c.4866C>T; p.G1622G; 20:62881090-62881090

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.184C>T; p.R62W; 20:62911429-62911429

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.5347G>A; p.E1783K; 20:62880609-62880609

central_nervous_system; braingliomaSubstitution - Missense

c.5158G>A; p.E1720K; 20:62880798-62880798

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2540A>G; p.H847R; 20:62894445-62894445

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2713G>A; p.E905K; 20:62894054-62894054

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.5990C>A; p.P1997H; 20:62879966-62879966

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.5379A>G; p.R1793R; 20:62880577-62880577

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.6666G>T; p.R2222R; 20:62879290-62879290

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.5379A>G; p.R1793R; 20:62880577-62880577

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.502C>T; p.L168F; 20:62911111-62911111

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1094G>T; p.G365V; 20:62909766-62909766

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2865C>T; p.S955S; 20:62893902-62893902

livercarcinomaSubstitution - coding silent

c.1910C>T; p.A637V; 20:62896675-62896675

skinmalignant_melanomaSubstitution - Missense

c.784G>A; p.E262K; 20:62910829-62910829

breastcarcinomaSubstitution - Missense

c.6258G>T; p.R2086S; 20:62879698-62879698

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2301T>C; p.L767L; 20:62895079-62895079

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.2133T>A; p.F711L; 20:62896314-62896314

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1046A>T; p.D349V; 20:62909814-62909814

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.2301T>C; p.L767L; 20:62895079-62895079

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.2306C>T; p.T769M; 20:62895074-62895074

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2227C>T; p.R743C; 20:62895153-62895153

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.220G>T; p.V74L; 20:62911393-62911393

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2650A>T; p.K884*; 20:62894117-62894117

large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.5893C>T; p.Q1965*; 20:62880063-62880063

urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.4572A>C; p.P1524P; 20:62881384-62881384

breastcarcinomaSubstitution - coding silent

c.1169A>C; p.E390A; 20:62907352-62907352

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1247A>G; p.D416G; 20:62907274-62907274

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.332C>T; p.S111F; 20:62911281-62911281

skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.6101C>T; p.P2034L; 20:62879855-62879855

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2688G>A; p.P896P; 20:62894079-62894079

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.4449C>T; p.N1483N; 20:62881507-62881507

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.5206C>T; p.L1736F; 20:62880750-62880750

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2239G>C; p.E747Q; 20:62895141-62895141

urinary_tract; bladdercarcinomaSubstitution - Missense

c.4324G>C; p.D1442H; 20:62881632-62881632

urinary_tract; bladdercarcinomaSubstitution - Missense

c.3561G>A; p.P1187P; 20:62882395-62882395

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.5872G>T; p.G1958C; 20:62880084-62880084

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.4148G>A; p.R1383K; 20:62881808-62881808

skinmalignant_melanomaSubstitution - Missense

c.3857C>T; p.P1286L; 20:62882099-62882099

skinmalignant_melanomaSubstitution - Missense

c.5574C>T; p.A1858A; 20:62880382-62880382

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.5032G>A; p.G1678S; 20:62880924-62880924

skinmalignant_melanomaSubstitution - Missense

c.6088C>T; p.P2030S; 20:62879868-62879868

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3116G>T; p.R1039L; 20:62892948-62892948

livercarcinomaSubstitution - Missense

c.1815G>A; p.S605S; 20:62896770-62896770

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.523G>A; p.E175K; 20:62911090-62911090

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.3530T>G; p.F1177C; 20:62890971-62890971

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4771C>T; p.P1591S; 20:62881185-62881185

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.893G>A; p.G298D; 20:62909967-62909967

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1290C>T; p.S430S; 20:62907231-62907231

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.3862_3873del12; p.T1291_A1294delTTAA; 20:62882083-62882094

kidneycarcinoma; renal_cell_carcinomaDeletion - In frame

c.3116G>T; p.R1039L; 20:62892948-62892948

livercarcinomaSubstitution - Missense

c.5587G>T; p.V1863L; 20:62880369-62880369

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.4485G>T; p.E1495D; 20:62881471-62881471

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.6376G>A; p.E2126K; 20:62879580-62879580

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.2481G>A; p.A827A; 20:62894504-62894504

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1889G>A; p.G630D; 20:62896696-62896696

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3689A>C; p.K1230T; 20:62882267-62882267

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.403C>T; p.R135*; 20:62911210-62911210

breastcarcinomaSubstitution - Nonsense

c.5339C>G; p.P1780R; 20:62880617-62880617

skinmalignant_melanomaSubstitution - Missense

c.1570C>T; p.P524S; 20:62905905-62905905

skinmalignant_melanomaSubstitution - Missense

c.5414G>A; p.G1805E; 20:62880542-62880542

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.2607G>A; p.P869P; 20:62894160-62894160

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.575G>A; p.R192H; 20:62911038-62911038

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.5700G>C; p.L1900L; 20:62880256-62880256

cervixcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.3738C>T; p.L1246L; 20:62882218-62882218

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.686C>T; p.A229V; 20:62910927-62910927

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.622A>G; p.T208A; 20:62910991-62910991

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.4787C>T; p.S1596F; 20:62881169-62881169

skinmalignant_melanomaSubstitution - Missense

c.2417C>T; p.P806L; 20:62894829-62894829

prostatecarcinomaSubstitution - Missense

c.4850C>T; p.S1617F; 20:62881106-62881106

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4236G>C; p.R1412S; 20:62881720-62881720

urinary_tract; bladdercarcinomaSubstitution - Missense

c.4968G>A; p.R1656R; 20:62880988-62880988

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.4492G>C; p.E1498Q; 20:62881464-62881464

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.3781C>T; p.P1261S; 20:62882175-62882175

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1172C>T; p.A391V; 20:62907349-62907349

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.322G>T; p.E108*; 20:62911291-62911291

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2536G>T; p.A846S; 20:62894449-62894449

livercarcinomaSubstitution - Missense

c.2536G>T; p.A846S; 20:62894449-62894449

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.129G>A; p.A43A; 20:62911484-62911484

breastcarcinomaSubstitution - coding silent

c.2536G>T; p.A846S; 20:62894449-62894449

livercarcinomaSubstitution - Missense

c.4153T>C; p.Y1385H; 20:62881803-62881803

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.338_339insG; p.S114fs*7; 20:62911274-62911275

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1600G>A; p.D534N; 20:62896985-62896985

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.5500C>T; p.P1834S; 20:62880456-62880456

skin; trunkmalignant_melanomaSubstitution - Missense

c.2427G>T; p.S809S; 20:62894819-62894819

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.6152C>T; p.S2051F; 20:62879804-62879804

skinmalignant_melanomaSubstitution - Missense

c.1991C>T; p.S664L; 20:62896594-62896594

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1738A>C; p.T580P; 20:62896847-62896847

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.5339C>T; p.P1780L; 20:62880617-62880617

skinmalignant_melanomaSubstitution - Missense

c.457G>A; p.D153N; 20:62911156-62911156

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1592C>T; p.T531M; 20:62896993-62896993

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2380C>T; p.P794S; 20:62894866-62894866

skinmalignant_melanomaSubstitution - Missense

c.3154C>T; p.R1052*; 20:62892910-62892910

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.5869C>T; p.P1957S; 20:62880087-62880087

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.5611G>A; p.E1871K; 20:62880345-62880345

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3154C>T; p.R1052*; 20:62892910-62892910

thyroidcarcinomaSubstitution - Nonsense

c.1691G>C; p.R564T; 20:62896894-62896894

breastcarcinomaSubstitution - Missense

c.5010C>T; p.P1670P; 20:62880946-62880946

livercarcinomaSubstitution - coding silent

c.6291G>A; p.E2097E; 20:62879665-62879665

skinmalignant_melanomaSubstitution - coding silent

c.5010C>T; p.P1670P; 20:62880946-62880946

livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.2797C>T; p.P933S; 20:62893970-62893970

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.6637G>A; p.D2213N; 20:62879319-62879319

stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.6176C>T; p.P2059L; 20:62879780-62879780

skinmalignant_melanomaSubstitution - Missense

c.4333C>T; p.P1445S; 20:62881623-62881623

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.88C>T; p.R30*; 20:62911525-62911525

skinmalignant_melanomaSubstitution - Nonsense

c.3900T>C; p.A1300A; 20:62882056-62882056

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.88C>T; p.R30*; 20:62911525-62911525

skinmalignant_melanomaSubstitution - Nonsense

c.4351G>T; p.D1451Y; 20:62881605-62881605

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1791G>A; p.R597R; 20:62896794-62896794

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.3192G>A; p.Q1064Q; 20:62892872-62892872

breastcarcinomaSubstitution - coding silent

c.4117G>T; p.D1373Y; 20:62881839-62881839

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.6486G>A; p.E2162E; 20:62879470-62879470

pancreascarcinomaSubstitution - coding silent

c.3938C>T; p.P1313L; 20:62882018-62882018

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4878_4879insC; p.A1627fs*53; 20:62881077-62881078

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.4878_4879insC; p.A1627fs*53; 20:62881077-62881078

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.5023C>T; p.Q1675*; 20:62880933-62880933

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.5533C>T; p.R1845C; 20:62880423-62880423

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4878_4879insC; p.A1627fs*53; 20:62881077-62881078

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.4878_4879insC; p.A1627fs*53; 20:62881077-62881078

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.4878_4879insC; p.A1627fs*53; 20:62881077-62881078

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.6119G>A; p.R2040H; 20:62879837-62879837

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.4878_4879insC; p.A1627fs*53; 20:62881077-62881078

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.6380G>A; p.R2127Q; 20:62879576-62879576

skinmalignant_melanomaSubstitution - Missense

c.4878_4879insC; p.A1627fs*53; 20:62881077-62881078

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.4878_4879insC; p.A1627fs*53; 20:62881077-62881078

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.4878_4879insC; p.A1627fs*53; 20:62881077-62881078

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.4878_4879insC; p.A1627fs*53; 20:62881077-62881078

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.4878_4879insC; p.A1627fs*53; 20:62881077-62881078

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.4878_4879insC; p.A1627fs*53; 20:62881077-62881078

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.4878_4879insC; p.A1627fs*53; 20:62881077-62881078

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.4878_4879insC; p.A1627fs*53; 20:62881077-62881078

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.4878_4879insC; p.A1627fs*53; 20:62881077-62881078

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.4878_4879insC; p.A1627fs*53; 20:62881077-62881078

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.4878_4879insC; p.A1627fs*53; 20:62881077-62881078

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.4878_4879insC; p.A1627fs*53; 20:62881077-62881078

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.4872G>C; p.K1624N; 20:62881084-62881084

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3610_3611AA>GC; p.N1204A; 20:62882345-62882346

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.3286A>T; p.R1096W; 20:62892046-62892046

pancreascarcinomaSubstitution - Missense

c.4872G>C; p.K1624N; 20:62881084-62881084

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1487C>T; p.A496V; 20:62905988-62905988

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4872G>C; p.K1624N; 20:62881084-62881084

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4872G>C; p.K1624N; 20:62881084-62881084

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4872G>C; p.K1624N; 20:62881084-62881084

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4872G>C; p.K1624N; 20:62881084-62881084

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4872G>C; p.K1624N; 20:62881084-62881084

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4412C>T; p.S1471F; 20:62881544-62881544

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2669C>G; p.S890C; 20:62894098-62894098

thyroidother; neoplasmSubstitution - Missense

c.3809C>T; p.P1270L; 20:62882147-62882147

urinary_tract; bladdercarcinomaSubstitution - Missense

c.2938G>A; p.A980T; 20:62893829-62893829

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3809C>T; p.P1270L; 20:62882147-62882147

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.2755_2756GC>AT; p.A919>?; 20:62894011-62894012

large_intestine; coloncarcinoma; adenocarcinomaComplex

c.3856C>T; p.P1286S; 20:62882100-62882100

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1083C>T; p.S361S; 20:62909777-62909777

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.5546A>T; p.H1849L; 20:62880410-62880410

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1217C>T; p.A406V; 20:62907304-62907304

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.6121T>C; p.W2041R; 20:62879835-62879835

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.4310C>T; p.A1437V; 20:62881646-62881646

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2307G>A; p.T769T; 20:62895073-62895073

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.5891C>T; p.P1964L; 20:62880065-62880065

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.6428C>T; p.S2143F; 20:62879528-62879528

skinmalignant_melanomaSubstitution - Missense

c.25A>G; p.N9D; 20:62911588-62911588

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.4180G>A; p.E1394K; 20:62881776-62881776

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1399C>A; p.H467N; 20:62906076-62906076

livercarcinomaSubstitution - Missense

c.1399C>A; p.H467N; 20:62906076-62906076

livercarcinomaSubstitution - Missense

c.5667C>T; p.F1889F; 20:62880289-62880289

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.3881C>A; p.A1294E; 20:62882075-62882075

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.6101delC; p.P2034fs*>207; 20:62879855-62879855

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.5402G>A; p.G1801E; 20:62880554-62880554

skinmalignant_melanomaSubstitution - Missense

c.6101delC; p.P2034fs*>207; 20:62879855-62879855

thyroidcarcinoma; anaplastic_carcinomaDeletion - Frameshift

c.6101delC; p.P2034fs*>207; 20:62879855-62879855

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.3785C>T; p.P1262L; 20:62882171-62882171

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1863A>G; p.A621A; 20:62896722-62896722

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.4037C>T; p.P1346L; 20:62881919-62881919

skin; mucosalmalignant_melanomaSubstitution - Missense

c.117C>T; p.G39G; 20:62911496-62911496

ovaryother; neoplasmSubstitution - coding silent

c.4924A>C; p.T1642P; 20:62881032-62881032

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4924A>C; p.T1642P; 20:62881032-62881032

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4924A>C; p.T1642P; 20:62881032-62881032

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4924A>C; p.T1642P; 20:62881032-62881032

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3627C>T; p.D1209D; 20:62882329-62882329

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.4924A>C; p.T1642P; 20:62881032-62881032

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.5727C>T; p.P1909P; 20:62880229-62880229

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.4924A>C; p.T1642P; 20:62881032-62881032

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4924A>C; p.T1642P; 20:62881032-62881032

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1610C>T; p.S537F; 20:62896975-62896975

skinmalignant_melanomaSubstitution - Missense

c.3330G>C; p.K1110N; 20:62892002-62892002

breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.4066G>T; p.A1356S; 20:62881890-62881890

meningesmeningiomaSubstitution - Missense

c.2511G>C; p.L837F; 20:62894474-62894474

breastcarcinomaSubstitution - Missense

c.3750C>G; p.D1250E; 20:62882206-62882206

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.2511G>C; p.L837F; 20:62894474-62894474

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.4707G>A; p.E1569E; 20:62881249-62881249

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2630C>T; p.S877F; 20:62894137-62894137

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.5471G>C; p.R1824T; 20:62880485-62880485

urinary_tract; bladdercarcinomaSubstitution - Missense

c.4231G>C; p.E1411Q; 20:62881725-62881725

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2630C>T; p.S877F; 20:62894137-62894137

skinmalignant_melanomaSubstitution - Missense

c.3802C>T; p.P1268S; 20:62882154-62882154

skinmalignant_melanomaSubstitution - Missense

c.365G>C; p.R122T; 20:62911248-62911248

breastcarcinomaSubstitution - Missense

c.1740A>C; p.T580T; 20:62896845-62896845

thyroidother; neoplasmSubstitution - coding silent

c.6686C>T; p.S2229L; 20:62879270-62879270

skinmalignant_melanomaSubstitution - Missense

c.4552G>A; p.D1518N; 20:62881404-62881404

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1740A>C; p.T580T; 20:62896845-62896845

thyroidother; neoplasmSubstitution - coding silent

c.1740A>C; p.T580T; 20:62896845-62896845

upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1740A>C; p.T580T; 20:62896845-62896845

thyroidother; neoplasmSubstitution - coding silent

c.1740A>C; p.T580T; 20:62896845-62896845

thyroidother; neoplasmSubstitution - coding silent

c.1740A>C; p.T580T; 20:62896845-62896845

thyroidother; neoplasmSubstitution - coding silent

c.4110C>A; p.F1370L; 20:62881846-62881846

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2133delT; p.F711fs*22; 20:62896314-62896314

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.5372G>C; p.G1791A; 20:62880584-62880584

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.5423C>T; p.P1808L; 20:62880533-62880533

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.4691G>T; p.R1564M; 20:62881265-62881265

thyroidother; neoplasmSubstitution - Missense

c.444C>T; p.H148H; 20:62911169-62911169

pancreascarcinomaSubstitution - coding silent

c.657C>T; p.P219P; 20:62910956-62910956

skinmalignant_melanomaSubstitution - coding silent

c.253G>A; p.G85S; 20:62911360-62911360

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.4751G>A; p.R1584H; 20:62881205-62881205

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.253G>A; p.G85S; 20:62911360-62911360

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.2917A>G; p.S973G; 20:62893850-62893850

livercarcinomaSubstitution - Missense

c.309_310CG>TT; p.A104S; 20:62911303-62911304

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.5239C>G; p.Q1747E; 20:62880717-62880717

breastcarcinomaSubstitution - Missense

c.6489C>T; p.A2163A; 20:62879467-62879467

pancreascarcinomaSubstitution - coding silent

c.5239C>G; p.Q1747E; 20:62880717-62880717

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.6046C>T; p.P2016S; 20:62879910-62879910

skinmalignant_melanomaSubstitution - Missense

c.5648G>T; p.G1883V; 20:62880308-62880308

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.4693C>T; p.R1565C; 20:62881263-62881263

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.6046C>T; p.P2016S; 20:62879910-62879910

skinmalignant_melanomaSubstitution - Missense

c.5440C>T; p.Q1814*; 20:62880516-62880516

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.3911C>T; p.A1304V; 20:62882045-62882045

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.6317A>G; p.Q2106R; 20:62879639-62879639

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3988C>T; p.P1330S; 20:62881968-62881968

skin; abdomenmalignant_melanomaSubstitution - Missense

c.5242C>A; p.P1748T; 20:62880714-62880714

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.5291C>A; p.S1764*; 20:62880665-62880665

lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.3989C>T; p.P1330L; 20:62881967-62881967

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3989C>T; p.P1330L; 20:62881967-62881967

skin; abdomenmalignant_melanomaSubstitution - Missense

c.4413C>T; p.S1471S; 20:62881543-62881543

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.862T>C; p.C288R; 20:62909998-62909998

oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1866G>T; p.T622T; 20:62896719-62896719

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.3332C>T; p.S1111F; 20:62892000-62892000

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1834A>G; p.R612G; 20:62896751-62896751

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1834A>G; p.R612G; 20:62896751-62896751

large_intestine; coloncarcinomaSubstitution - Missense

c.4515C>T; p.A1505A; 20:62881441-62881441

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.6352G>A; p.E2118K; 20:62879604-62879604

NSNSSubstitution - Missense

c.483G>A; p.L161L; 20:62911130-62911130

breastcarcinomaSubstitution - coding silent

c.2067C>T; p.S689S; 20:62896380-62896380

pancreascarcinomaSubstitution - coding silent

c.2067C>T; p.S689S; 20:62896380-62896380

pancreascarcinomaSubstitution - coding silent

c.5710C>G; p.R1904G; 20:62880246-62880246

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2067C>T; p.S689S; 20:62896380-62896380

pancreascarcinomaSubstitution - coding silent

c.5591C>T; p.T1864M; 20:62880365-62880365

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.98C>T; p.T33I; 20:62911515-62911515

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1681C>T; p.P561S; 20:62896904-62896904

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.400G>C; p.E134Q; 20:62911213-62911213

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.11A>T; p.K4I; 20:62911602-62911602

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.2436G>A; p.E812E; 20:62894810-62894810

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.133G>T; p.A45S; 20:62911480-62911480

bone; pelvisEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.5320C>T; p.P1774S; 20:62880636-62880636

skinmalignant_melanomaSubstitution - Missense

c.4795G>T; p.G1599C; 20:62881161-62881161

large_intestine; colonadenomaSubstitution - Missense

c.3645G>A; p.R1215R; 20:62882311-62882311

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.4044C>T; p.T1348T; 20:62881912-62881912

skinmalignant_melanomaSubstitution - coding silent

c.6206A>C; p.D2069A; 20:62879750-62879750

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1267G>A; p.A423T; 20:62907254-62907254

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.5757C>A; p.P1919P; 20:62880199-62880199

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.500G>A; p.R167H; 20:62911113-62911113

pancreascarcinomaSubstitution - Missense

c.2480C>T; p.A827V; 20:62894505-62894505

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.719G>A; p.G240E; 20:62910894-62910894

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4867G>A; p.E1623K; 20:62881089-62881089

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4867G>A; p.E1623K; 20:62881089-62881089

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4867G>A; p.E1623K; 20:62881089-62881089

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2507T>C; p.M836T; 20:62894478-62894478

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1246G>A; p.D416N; 20:62907275-62907275

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.4867G>A; p.E1623K; 20:62881089-62881089

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4867G>A; p.E1623K; 20:62881089-62881089

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1359G>A; p.P453P; 20:62907162-62907162

oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.4867G>A; p.E1623K; 20:62881089-62881089

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4867G>A; p.E1623K; 20:62881089-62881089

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.6596G>A; p.R2199Q; 20:62879360-62879360

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.882C>T; p.G294G; 20:62909978-62909978

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.6596G>A; p.R2199Q; 20:62879360-62879360

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4441G>T; p.E1481*; 20:62881515-62881515

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1807A>C; p.T603P; 20:62896778-62896778

urinary_tract; bladdercarcinomaSubstitution - Missense

c.5758C>T; p.P1920S; 20:62880198-62880198

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.590C>T; p.P197L; 20:62911023-62911023

skinmalignant_melanomaSubstitution - Missense

c.3404C>T; p.S1135F; 20:62891097-62891097

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.440A>G; p.D147G; 20:62911173-62911173

skinmalignant_melanomaSubstitution - Missense

c.6122G>T; p.W2041L; 20:62879834-62879834

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.4732C>T; p.L1578F; 20:62881224-62881224

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1087G>T; p.D363Y; 20:62909773-62909773

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1784C>G; p.P595R; 20:62896801-62896801

pancreascarcinomaSubstitution - Missense

c.3345+1G>C; p.?; 20:62891986-62891986

breastcarcinomaUnknown

c.2224C>T; p.H742Y; 20:62895156-62895156

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1665C>T; p.S555S; 20:62896920-62896920

skinmalignant_melanomaSubstitution - coding silent

c.3559C>T; p.P1187S; 20:62882397-62882397

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.558T>C; p.S186S; 20:62911055-62911055

skinmalignant_melanomaSubstitution - coding silent

c.3980C>A; p.S1327*; 20:62881976-62881976

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.5409G>T; p.Q1803H; 20:62880547-62880547

breastcarcinomaSubstitution - Missense

c.250C>T; p.R84C; 20:62911363-62911363

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.5413_5414GG>AA; p.G1805K; 20:62880542-62880543

skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.102C>T; p.I34I; 20:62911511-62911511

thyroidother; neoplasmSubstitution - coding silent

c.4217G>A; p.R1406Q; 20:62881739-62881739

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.6006_6007insA; p.E2003fs*90; 20:62879949-62879950

stomachadenocarcinomaInsertion - Frameshift

c.4896C>T; p.D1632D; 20:62881060-62881060

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.6051G>T; p.Q2017H; 20:62879905-62879905

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.5190C>T; p.G1730G; 20:62880766-62880766

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.5228delT; p.V1743fs*121; 20:62880728-62880728

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.907C>T; p.R303*; 20:62909953-62909953

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1052C>T; p.T351I; 20:62909808-62909808

urinary_tract; bladdercarcinomaSubstitution - Missense

c.4739G>A; p.R1580K; 20:62881217-62881217

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.5682G>A; p.R1894R; 20:62880274-62880274

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.4089C>T; p.I1363I; 20:62881867-62881867

skinmalignant_melanomaSubstitution - coding silent

c.6144C>T; p.S2048S; 20:62879812-62879812

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.5301C>T; p.H1767H; 20:62880655-62880655

ovaryother; neoplasmSubstitution - coding silent

c.2013G>A; p.R671R; 20:62896572-62896572

central_nervous_system; braingliomaSubstitution - coding silent

c.2043T>G; p.I681M; 20:62896542-62896542

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.5301C>T; p.H1767H; 20:62880655-62880655

ovaryother; neoplasmSubstitution - coding silent

c.4470G>C; p.K1490N; 20:62881486-62881486

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.3393C>T; p.V1131V; 20:62891108-62891108

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.859C>T; p.R287C; 20:62910001-62910001

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.542T>G; p.L181R; 20:62911071-62911071

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.4746G>A; p.S1582S; 20:62881210-62881210

pancreascarcinomaSubstitution - coding silent

c.239T>G; p.I80S; 20:62911374-62911374

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.4470G>C; p.K1490N; 20:62881486-62881486

urinary_tract; bladdercarcinomaSubstitution - Missense

c.246G>A; p.R82R; 20:62911367-62911367

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.5523A>G; p.Q1841Q; 20:62880433-62880433

oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.4451A>C; p.K1484T; 20:62881505-62881505

skinmalignant_melanomaSubstitution - Missense

c.4216C>T; p.R1406W; 20:62881740-62881740

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2877C>T; p.T959T; 20:62893890-62893890

prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.469G>A; p.D157N; 20:62911144-62911144

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4216C>T; p.R1406W; 20:62881740-62881740

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1224C>T; p.P408P; 20:62907297-62907297

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.5969G>A; p.G1990D; 20:62879987-62879987

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.998C>T; p.A333V; 20:62909862-62909862

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1272G>A; p.A424A; 20:62907249-62907249

thyroidother; neoplasmSubstitution - coding silent

c.5316G>A; p.P1772P; 20:62880640-62880640

central_nervous_system; braingliomaSubstitution - coding silent

c.4167G>T; p.E1389D; 20:62881789-62881789

breastcarcinomaSubstitution - Missense

c.5969G>A; p.G1990D; 20:62879987-62879987

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1425delA; p.E476fs*4; 20:62906050-62906050

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1425delA; p.E476fs*4; 20:62906050-62906050

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.4988C>T; p.P1663L; 20:62880968-62880968

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.5199C>T; p.T1733T; 20:62880757-62880757

ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.1511C>T; p.S504L; 20:62905964-62905964

urinary_tract; bladdercarcinomaSubstitution - Missense

c.4749A>T; p.A1583A; 20:62881207-62881207

lungcarcinoma; adenocarcinomaSubstitution - coding silent


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