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

Basic Information

Gene ID

7290

Name

HIRA

Synonymous

histone cell cycle regulator;HIRA;histone cell cycle regulator

Definition

DiGeorge critical region gene 1|HIR histone cell cycle regulation defective homolog A|TUP1-like enhancer of split protein 1|protein HIRA

Position

22q11.21

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.1690G>A; p.A564T; 22:19375716-19375716

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2071G>A; p.A691T; 22:19361251-19361251

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1593C>T; p.G531G; 22:19377889-19377889

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2034A>G; p.A678A; 22:19361288-19361288

 breastcarcinomaSubstitution - coding silent

c.878C>A; p.P293H; 22:19392159-19392159

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2715C>T; p.S905S; 22:19353489-19353489

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2023_2026delTCTG; p.S675fs*6; 22:19361296-19361299

 stomachadenocarcinomaDeletion - Frameshift

c.835A>C; p.K279Q; 22:19392202-19392202

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.177T>A; p.I59I; 22:19408517-19408517

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2226G>A; p.A742A; 22:19359344-19359344

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.494-1G>A; p.?; 22:19396948-19396948

 urinary_tract; bladdercarcinomaUnknown

c.760G>T; p.E254*; 22:19394404-19394404

 breastcarcinomaSubstitution - Nonsense

c.307A>G; p.I103V; 22:19405876-19405876

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1276G>T; p.A426S; 22:19385574-19385574

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.1276G>T; p.A426S; 22:19385574-19385574

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1618A>G; p.N540D; 22:19375788-19375788

 skinmalignant_melanomaSubstitution - Missense

c.1832G>A; p.S611N; 22:19361875-19361875

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.639C>G; p.T213T; 22:19396802-19396802

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1933C>T; p.R645W; 22:19361774-19361774

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.765G>A; p.R255R; 22:19394399-19394399

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2654C>T; p.P885L; 22:19354026-19354026

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2688G>A; p.S896S; 22:19353516-19353516

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2163G>A; p.L721L; 22:19359407-19359407

 breastcarcinomaSubstitution - coding silent

c.2144delG; p.G715fs*2; 22:19359426-19359426

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.709C>T; p.L237L; 22:19394455-19394455

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1691C>T; p.A564V; 22:19375715-19375715

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.359A>G; p.Q120R; 22:19405824-19405824

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.570T>C; p.A190A; 22:19396871-19396871

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2294G>A; p.R765H; 22:19356992-19356992

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1536C>T; p.F512F; 22:19377946-19377946

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2820C>T; p.L940L; 22:19353384-19353384

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.848delA; p.K283fs*34; 22:19392189-19392189

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2086-1G>T; p.?; 22:19359485-19359485

 lungcarcinoma; adenocarcinomaUnknown

c.1885C>T; p.R629*; 22:19361822-19361822

 breastcarcinomaSubstitution - Nonsense

c.1961C>A; p.P654H; 22:19361746-19361746

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1035A>G; p.V345V; 22:19387789-19387789

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.2333C>G; p.S778C; 22:19356953-19356953

 breastcarcinomaSubstitution - Missense

c.1811C>T; p.P604L; 22:19361896-19361896

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.820G>A; p.V274M; 22:19394344-19394344

 prostateadenomaSubstitution - Missense

c.1214A>C; p.Q405P; 22:19385636-19385636

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1153A>G; p.I385V; 22:19385697-19385697

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2111T>C; p.I704T; 22:19359459-19359459

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3020G>T; p.C1007F; 22:19331474-19331474

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1257G>A; p.A419A; 22:19385593-19385593

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.302C>T; p.T101M; 22:19407184-19407184

 breastcarcinomaSubstitution - Missense

c.1468G>A; p.G490S; 22:19378014-19378014

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2800G>A; p.E934K; 22:19353404-19353404

 skinmalignant_melanomaSubstitution - Missense

c.229C>T; p.R77W; 22:19407257-19407257

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.229C>T; p.R77W; 22:19407257-19407257

 stomachadenocarcinomaSubstitution - Missense

c.160G>A; p.E54K; 22:19408534-19408534

 breastcarcinomaSubstitution - Missense

c.860A>G; p.N287S; 22:19392177-19392177

 skinmalignant_melanomaSubstitution - Missense

c.1814G>A; p.R605Q; 22:19361893-19361893

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1374G>A; p.R458R; 22:19383661-19383661

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1814G>A; p.R605Q; 22:19361893-19361893

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1225C>T; p.Q409*; 22:19385625-19385625

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1225C>T; p.Q409*; 22:19385625-19385625

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1250G>C; p.S417T; 22:19385600-19385600

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.1466C>T; p.A489V; 22:19378016-19378016

 skinmalignant_melanomaSubstitution - Missense

c.2860C>T; p.R954*; 22:19351435-19351435

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1456_1457GG>TT; p.G486F; 22:19378025-19378026

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.764G>A; p.R255Q; 22:19394400-19394400

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.42G>A; p.K14K; 22:19410774-19410774

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.153G>T; p.E51D; 22:19408541-19408541

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.53C>T; p.S18L; 22:19410763-19410763

 large_intestine; coloncarcinomaSubstitution - Missense

c.2739G>A; p.E913E; 22:19353465-19353465

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.989C>G; p.S330C; 22:19388502-19388502

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.113G>T; p.G38V; 22:19408581-19408581

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2264G>A; p.R755K; 22:19357022-19357022

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.396C>T; p.G132G; 22:19405787-19405787

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - coding silent

c.1358G>A; p.R453Q; 22:19383677-19383677

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1044G>T; p.M348I; 22:19387780-19387780

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.2080C>T; p.L694F; 22:19361242-19361242

 skinmalignant_melanomaSubstitution - Missense

c.2766G>T; p.Q922H; 22:19353438-19353438

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2521G>A; p.D841N; 22:19355800-19355800

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.2995C>T; p.R999*; 22:19331499-19331499

 skinmalignant_melanomaSubstitution - Nonsense

c.2909C>G; p.T970S; 22:19351386-19351386

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1714C>T; p.R572W; 22:19375692-19375692

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2764C>T; p.Q922*; 22:19353440-19353440

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.2679C>A; p.T893T; 22:19354001-19354001

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2388C>T; p.L796L; 22:19356898-19356898

 skinmalignant_melanomaSubstitution - coding silent

c.1175C>A; p.S392Y; 22:19385675-19385675

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.397G>A; p.D133N; 22:19405786-19405786

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.508C>T; p.L170L; 22:19396933-19396933

 skinmalignant_melanomaSubstitution - coding silent

c.494-2A>G; p.?; 22:19396949-19396949

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.2839G>A; p.V947I; 22:19353365-19353365

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.3034G>A; p.D1012N; 22:19331460-19331460

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1334T>G; p.L445R; 22:19383701-19383701

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1334T>G; p.L445R; 22:19383701-19383701

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2396+1G>A; p.?; 22:19356889-19356889

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; NK-T_cell_lymphomaUnknown

c.343C>A; p.L115I; 22:19405840-19405840

 prostatecarcinomaSubstitution - Missense

c.1588G>C; p.A530P; 22:19377894-19377894

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.85G>A; p.A29T; 22:19410731-19410731

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.924G>A; p.S308S; 22:19392113-19392113

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.836A>T; p.K279I; 22:19392201-19392201

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1429G>A; p.A477T; 22:19378053-19378053

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1741G>T; p.A581S; 22:19375665-19375665

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1269G>C; p.M423I; 22:19385581-19385581

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1454C>T; p.S485L; 22:19378028-19378028

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.145C>T; p.L49F; 22:19408549-19408549

 skinmalignant_melanomaSubstitution - Missense

c.145C>T; p.L49F; 22:19408549-19408549

 skinmalignant_melanomaSubstitution - Missense

c.1903G>C; p.V635L; 22:19361804-19361804

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.985A>T; p.K329*; 22:19388506-19388506

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1330-9C>T; p.?; 22:19383714-19383714

 livercarcinomaUnknown

c.1330-9C>T; p.?; 22:19383714-19383714

 livercarcinomaUnknown

c.1330-9C>T; p.?; 22:19383714-19383714

 livercarcinomaUnknown

c.2210G>A; p.R737Q; 22:19359360-19359360

 biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - Missense

c.2999T>G; p.F1000C; 22:19331495-19331495

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2397G>T; p.W799C; 22:19356288-19356288

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1532C>T; p.S511F; 22:19377950-19377950

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1532C>T; p.S511F; 22:19377950-19377950

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2714C>T; p.S905F; 22:19353490-19353490

 skinmalignant_melanomaSubstitution - Missense

c.176T>A; p.I59N; 22:19408518-19408518

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1216C>T; p.R406*; 22:19385634-19385634

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2938G>T; p.G980C; 22:19331556-19331556

 ovaryother; neoplasmSubstitution - Missense

c.2269C>T; p.L757L; 22:19357017-19357017

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.988T>G; p.S330A; 22:19388503-19388503

 bone; fibulaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1744C>T; p.L582L; 22:19375662-19375662

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.873G>A; p.A291A; 22:19392164-19392164

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.2618G>A; p.S873N; 22:19354062-19354062

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2082C>T; p.L694L; 22:19361240-19361240

 oesophagus; upper_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2082C>T; p.L694L; 22:19361240-19361240

 skinmalignant_melanomaSubstitution - coding silent

c.1967C>T; p.S656F; 22:19361740-19361740

 skinmalignant_melanomaSubstitution - Missense

c.2171A>C; p.N724T; 22:19359399-19359399

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.993C>G; p.I331M; 22:19388498-19388498

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.72C>T; p.D24D; 22:19410744-19410744

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.72C>T; p.D24D; 22:19410744-19410744

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1689A>G; p.K563K; 22:19375717-19375717

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1383C>T; p.I461I; 22:19383652-19383652

 skinmalignant_melanomaSubstitution - coding silent

c.1561C>T; p.P521S; 22:19377921-19377921

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.12G>A; p.L4L; 22:19431465-19431465

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1206C>G; p.L402L; 22:19385644-19385644

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1206C>G; p.L402L; 22:19385644-19385644

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.1560G>C; p.E520D; 22:19377922-19377922

 central_nervous_system; braingliomaSubstitution - Missense

c.771A>G; p.G257G; 22:19394393-19394393

 pancreascarcinoid-endocrine_tumourSubstitution - coding silent

c.2737G>T; p.E913*; 22:19353467-19353467

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Nonsense

c.911G>T; p.S304I; 22:19392126-19392126

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2448C>T; p.I816I; 22:19356237-19356237

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2669A>T; p.Q890L; 22:19354011-19354011

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2448C>T; p.I816I; 22:19356237-19356237

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - coding silent

c.662G>A; p.G221E; 22:19394502-19394502

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2532G>A; p.A844A; 22:19355789-19355789

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2086-7C>T; p.?; 22:19359491-19359491

 skin; head_neckmalignant_melanoma; superficial_spreadingUnknown

c.628A>G; p.T210A; 22:19396813-19396813

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.517C>T; p.H173Y; 22:19396924-19396924

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1220G>T; p.R407M; 22:19385630-19385630

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.517C>T; p.H173Y; 22:19396924-19396924

 skinmalignant_melanomaSubstitution - Missense

c.1677C>T; p.I559I; 22:19375729-19375729

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1235_1238delAGCT; p.Q412fs*34; 22:19385612-19385615

 lungcarcinoma; adenocarcinomaDeletion - Frameshift

c.100+2T>C; p.?; 22:19410714-19410714

 stomachcarcinoma; adenocarcinomaUnknown

c.1175C>T; p.S392F; 22:19385675-19385675

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2263_2264insA; p.R755fs*67; 22:19357022-19357023

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.3002A>G; p.Q1001R; 22:19331492-19331492

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1373G>A; p.R458Q; 22:19383662-19383662

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1093C>T; p.P365S; 22:19387731-19387731

 skinmalignant_melanomaSubstitution - Missense

c.2980A>G; p.I994V; 22:19331514-19331514

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1090G>A; p.D364N; 22:19387734-19387734

 oesophaguscarcinomaSubstitution - Missense

c.954G>A; p.R318R; 22:19388537-19388537

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2069G>C; p.R690T; 22:19361253-19361253

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; chronic_myeloid_leukaemiaSubstitution - Missense

c.1073C>T; p.S358F; 22:19387751-19387751

 skinmalignant_melanomaSubstitution - Missense

c.574C>G; p.Q192E; 22:19396867-19396867

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.891C>A; p.Y297*; 22:19392146-19392146

 lungcarcinoma; small_cell_carcinomaSubstitution - Nonsense

c.3021T>C; p.C1007C; 22:19331473-19331473

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1461C>T; p.S487S; 22:19378021-19378021

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2704C>G; p.R902G; 22:19353500-19353500

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2866C>T; p.R956*; 22:19351429-19351429

 breastcarcinomaSubstitution - Nonsense

c.1488_1489delTA; p.H496fs*14; 22:19377993-19377994

 stomachadenocarcinomaDeletion - Frameshift

c.53C>A; p.S18*; 22:19410763-19410763

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.212-9delT; p.?; 22:19407283-19407283

 skinmalignant_melanomaUnknown

c.2225C>T; p.A742V; 22:19359345-19359345

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2085+8C>A; p.?; 22:19361229-19361229

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.2606A>T; p.D869V; 22:19354074-19354074

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1178C>T; p.T393I; 22:19385672-19385672

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1267A>G; p.M423V; 22:19385583-19385583

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.872C>T; p.A291V; 22:19392165-19392165

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2982C>T; p.I994I; 22:19331512-19331512

 skinmalignant_melanomaSubstitution - coding silent

c.1999G>A; p.A667T; 22:19361323-19361323

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.489C>T; p.F163F; 22:19397996-19397996

 skinmalignant_melanomaSubstitution - coding silent

c.350A>G; p.N117S; 22:19405833-19405833

 pancreascarcinomaSubstitution - Missense

c.2157C>T; p.S719S; 22:19359413-19359413

 skinmalignant_melanomaSubstitution - coding silent

c.350A>G; p.N117S; 22:19405833-19405833

 pancreascarcinomaSubstitution - Missense

c.1183G>A; p.V395I; 22:19385667-19385667

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2887C>T; p.L963L; 22:19351408-19351408

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.212-9_212-8insT; p.?; 22:19407282-19407283

 skinmalignant_melanomaUnknown

c.44C>T; p.P15L; 22:19410772-19410772

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1164G>A; p.E388E; 22:19385686-19385686

 skinmalignant_melanomaSubstitution - coding silent

c.1935G>A; p.R645R; 22:19361772-19361772

 breastcarcinomaSubstitution - coding silent

c.356A>G; p.E119G; 22:19405827-19405827

 skinmalignant_melanomaSubstitution - Missense

c.1950_1951delTC; p.R651fs*54; 22:19361756-19361757

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1235_1237delAGC; p.Q412delQ; 22:19385613-19385615

 lungcarcinoma; adenocarcinomaDeletion - In frame

c.2273C>T; p.S758L; 22:19357013-19357013

 oesophaguscarcinomaSubstitution - Missense

c.2417T>G; p.V806G; 22:19356268-19356268

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2807G>A; p.R936H; 22:19353397-19353397

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.84C>T; p.F28F; 22:19410732-19410732

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.84C>T; p.F28F; 22:19410732-19410732

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.212-8_212-7insT; p.?; 22:19407281-19407282

 stomachadenocarcinomaUnknown

c.1544C>T; p.S515L; 22:19377938-19377938

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2214C>T; p.I738I; 22:19359356-19359356

 skinmalignant_melanomaSubstitution - coding silent

c.1544C>T; p.S515L; 22:19377938-19377938

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.2280C>T; p.F760F; 22:19357006-19357006

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.82T>C; p.F28L; 22:19410734-19410734

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1237_1238insAGC; p.Q412_L413insQ; 22:19385612-19385613

 large_intestine; caecumcarcinoma; adenocarcinomaInsertion - In frame

c.808G>A; p.A270T; 22:19394356-19394356

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2859C>T; p.Y953Y; 22:19351436-19351436

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1846G>C; p.E616Q; 22:19361861-19361861

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1383C>A; p.I461I; 22:19383652-19383652

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.262G>A; p.G88R; 22:19407224-19407224

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1842C>T; p.S614S; 22:19361865-19361865

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.364C>T; p.R122W; 22:19405819-19405819

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

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