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

Basic Information

Gene ID

28996

Name

HIPK2

Synonymous

homeodomain interacting protein kinase 2;HIPK2;homeodomain interacting protein kinase 2

Definition

hHIPk2|homeodomain-interacting protein kinase 2

Position

7q34

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 0.07.

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.2781C>T; p.S927S; 7:139584001-139584001

prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.1945G>C; p.D649H; 7:139614331-139614331

breastcarcinomaSubstitution - Missense

c.2633C>T; p.P878L; 7:139596801-139596801

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3540C>G; p.T1180T; 7:139572984-139572984

breastcarcinomaSubstitution - coding silent

c.3464C>T; p.S1155L; 7:139573060-139573060

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2581G>C; p.D861H; 7:139596853-139596853

livercarcinomaSubstitution - Missense

c.3584A>G; p.Y1195C; 7:139572940-139572940

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3216C>T; p.S1072S; 7:139573308-139573308

skinmalignant_melanomaSubstitution - coding silent

c.925G>T; p.A309S; 7:139716110-139716110

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.481G>T; p.A161S; 7:139716554-139716554

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1597C>T; p.L533F; 7:139626623-139626623

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3210G>T; p.P1070P; 7:139573314-139573314

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.2220G>C; p.E740D; 7:139604116-139604116

breastcarcinomaSubstitution - Missense

c.1309C>T; p.R437C; 7:139631203-139631203

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3123C>G; p.S1041R; 7:139575131-139575131

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1867T>G; p.S623A; 7:139614409-139614409

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.324delC; p.G109fs*6; 7:139716711-139716711

skin; head_neckcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.3198G>A; p.M1066I; 7:139573326-139573326

skinmalignant_melanomaSubstitution - Missense

c.1807A>G; p.I603V; 7:139614469-139614469

livercarcinomaSubstitution - Missense

c.1807A>G; p.I603V; 7:139614469-139614469

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1496A>G; p.E499G; 7:139626724-139626724

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1500C>T; p.F500F; 7:139626720-139626720

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1103+8C>T; p.?; 7:139715924-139715924

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.1103+8C>T; p.?; 7:139715924-139715924

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.2912C>T; p.P971L; 7:139583870-139583870

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3031G>T; p.G1011C; 7:139575223-139575223

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.538A>T; p.S180C; 7:139716497-139716497

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1064A>C; p.K355T; 7:139715971-139715971

livercarcinomaSubstitution - Missense

c.1064A>C; p.K355T; 7:139715971-139715971

livercarcinomaSubstitution - Missense

c.1782G>A; p.Q594Q; 7:139620401-139620401

breastcarcinomaSubstitution - coding silent

c.3405C>A; p.A1135A; 7:139573119-139573119

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1657C>T; p.R553C; 7:139620526-139620526

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.518C>T; p.S173F; 7:139716517-139716517

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.890C>T; p.P297L; 7:139716145-139716145

skinmalignant_melanomaSubstitution - Missense

c.2523C>T; p.R841R; 7:139596911-139596911

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1490G>A; p.R497Q; 7:139626730-139626730

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.1493G>A; p.R498Q; 7:139626727-139626727

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.437T>C; p.I146T; 7:139716598-139716598

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2364C>T; p.A788A; 7:139600488-139600488

prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.2810C>T; p.S937F; 7:139583972-139583972

skinmalignant_melanomaSubstitution - Missense

c.2776T>C; p.Y926H; 7:139584006-139584006

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1871C>T; p.A624V; 7:139614405-139614405

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2661C>T; p.V887V; 7:139596773-139596773

skinmalignant_melanomaSubstitution - coding silent

c.1811C>T; p.S604F; 7:139614465-139614465

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1811C>T; p.S604F; 7:139614465-139614465

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.504G>A; p.T168T; 7:139716531-139716531

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2112+3A>G; p.?; 7:139613199-139613199

livercarcinomaUnknown

c.620G>A; p.R207Q; 7:139716415-139716415

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.2112+3A>G; p.?; 7:139613199-139613199

livercarcinomaUnknown

c.3411A>G; p.P1137P; 7:139573113-139573113

breastcarcinomaSubstitution - coding silent

c.2267C>T; p.A756V; 7:139600585-139600585

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2823T>C; p.R941R; 7:139583959-139583959

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2912C>A; p.P971H; 7:139583870-139583870

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1046C>T; p.S349L; 7:139715989-139715989

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2823T>C; p.R941R; 7:139583959-139583959

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2921C>T; p.T974I; 7:139583861-139583861

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3331C>T; p.L1111L; 7:139573193-139573193

skinmalignant_melanomaSubstitution - coding silent

c.1158C>T; p.S386S; 7:139631671-139631671

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1477G>A; p.E493K; 7:139626743-139626743

breastcarcinomaSubstitution - Missense

c.455C>T; p.P152L; 7:139716580-139716580

skinmalignant_melanomaSubstitution - Missense

c.2108C>G; p.A703G; 7:139613206-139613206

breastcarcinomaSubstitution - Missense

c.22_23insA; p.M8fs*20; 7:139717012-139717013

endometriumcarcinoma; endometrioid_carcinomaInsertion - Frameshift

c.154A>G; p.S52G; 7:139716881-139716881

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3448C>T; p.P1150S; 7:139573076-139573076

skinmalignant_melanomaSubstitution - Missense

c.253G>A; p.V85I; 7:139716782-139716782

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.253G>A; p.V85I; 7:139716782-139716782

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.3030C>T; p.S1010S; 7:139575224-139575224

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.253G>A; p.V85I; 7:139716782-139716782

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2467C>T; p.Q823*; 7:139596967-139596967

upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.2208C>T; p.T736T; 7:139604128-139604128

biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - coding silent

c.2742C>T; p.N914N; 7:139584040-139584040

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.344T>G; p.M115R; 7:139716691-139716691

thyroidother; neoplasmSubstitution - Missense

c.1907C>T; p.P636L; 7:139614369-139614369

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2522G>A; p.R841H; 7:139596912-139596912

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2316C>T; p.T772T; 7:139600536-139600536

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1976C>T; p.P659L; 7:139614300-139614300

skinmalignant_melanomaSubstitution - Missense

c.1901G>A; p.S634N; 7:139614375-139614375

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1661G>A; p.R554Q; 7:139620522-139620522

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2688G>C; p.E896D; 7:139596746-139596746

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2688G>C; p.E896D; 7:139596746-139596746

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2315C>T; p.T772I; 7:139600537-139600537

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1980delC; p.G661fs*63; 7:139614296-139614296

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1980delC; p.G661fs*63; 7:139614296-139614296

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1980delC; p.G661fs*63; 7:139614296-139614296

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1661G>A; p.R554Q; 7:139620522-139620522

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2688G>C; p.E896D; 7:139596746-139596746

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.2688G>C; p.E896D; 7:139596746-139596746

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2905G>A; p.V969M; 7:139583877-139583877

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2905G>A; p.V969M; 7:139583877-139583877

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3461C>T; p.P1154L; 7:139573063-139573063

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.511G>A; p.A171T; 7:139716524-139716524

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3391G>A; p.V1131M; 7:139573133-139573133

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2097A>T; p.P699P; 7:139613217-139613217

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.2690A>G; p.E897G; 7:139596744-139596744

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.3190C>A; p.P1064T; 7:139573334-139573334

breastcarcinomaSubstitution - Missense

c.1599C>T; p.L533L; 7:139626621-139626621

oesophaguscarcinomaSubstitution - coding silent

c.2056G>A; p.V686I; 7:139613258-139613258

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2123C>T; p.P708L; 7:139604213-139604213

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.2074G>A; p.A692T; 7:139613240-139613240

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2271C>T; p.H757H; 7:139600581-139600581

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.745C>T; p.R249W; 7:139716290-139716290

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.3524C>T; p.A1175V; 7:139573000-139573000

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1432C>T; p.Q478*; 7:139628955-139628955

skinmalignant_melanomaSubstitution - Nonsense

c.2663T>A; p.I888N; 7:139596771-139596771

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2664C>T; p.I888I; 7:139596770-139596770

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.49C>T; p.P17S; 7:139716986-139716986

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2552G>A; p.C851Y; 7:139596882-139596882

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.2580C>T; p.G860G; 7:139596854-139596854

breastcarcinomaSubstitution - coding silent

c.1812C>A; p.S604S; 7:139614464-139614464

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2580C>T; p.G860G; 7:139596854-139596854

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.143G>A; p.S48N; 7:139716892-139716892

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.478G>A; p.G160R; 7:139716557-139716557

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.124_125insCTG; p.T42_G43insA; 7:139716910-139716911

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeInsertion - In frame

c.891C>T; p.P297P; 7:139716144-139716144

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.891C>T; p.P297P; 7:139716144-139716144

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1940G>A; p.R647Q; 7:139614336-139614336

prostatecarcinomaSubstitution - Missense

c.3486G>T; p.Q1162H; 7:139573038-139573038

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.3120C>T; p.L1040L; 7:139575134-139575134

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2301G>A; p.Q767Q; 7:139600551-139600551

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2314A>G; p.T772A; 7:139600538-139600538

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2314A>G; p.T772A; 7:139600538-139600538

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2314A>G; p.T772A; 7:139600538-139600538

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1921A>G; p.T641A; 7:139614355-139614355

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.2404C>A; p.R802R; 7:139600448-139600448

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.398G>A; p.R133H; 7:139716637-139716637

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3096C>T; p.F1032F; 7:139575158-139575158

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.3549T>G; p.T1183T; 7:139572975-139572975

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2405G>A; p.R802Q; 7:139600447-139600447

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2405G>A; p.R802Q; 7:139600447-139600447

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2405G>A; p.R802Q; 7:139600447-139600447

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2405G>A; p.R802Q; 7:139600447-139600447

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.696C>A; p.N232K; 7:139716339-139716339

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2822G>T; p.R941L; 7:139583960-139583960

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2616G>A; p.R872R; 7:139596818-139596818

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.875A>G; p.K292R; 7:139716160-139716160

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1231C>T; p.R411W; 7:139631281-139631281

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.429C>T; p.S143S; 7:139716606-139716606

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.711C>T; p.A237A; 7:139716324-139716324

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.347G>A; p.R116H; 7:139716688-139716688

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1812C>G; p.S604S; 7:139614464-139614464

ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.2007C>T; p.P669P; 7:139613307-139613307

breastcarcinomaSubstitution - coding silent

c.2316C>A; p.T772T; 7:139600536-139600536

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1949delC; p.P650fs*74; 7:139614327-139614327

kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - Frameshift

c.1119C>T; p.I373I; 7:139631710-139631710

skinmalignant_melanomaSubstitution - coding silent

c.292G>A; p.A98T; 7:139716743-139716743

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1119C>T; p.I373I; 7:139631710-139631710

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.780C>T; p.F260F; 7:139716255-139716255

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.780C>T; p.F260F; 7:139716255-139716255

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.3464C>A; p.S1155*; 7:139573060-139573060

lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1231C>A; p.R411R; 7:139631281-139631281

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2628C>T; p.V876V; 7:139596806-139596806

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.209C>T; p.S70F; 7:139716826-139716826

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.350G>A; p.R117Q; 7:139716685-139716685

breastcarcinomaSubstitution - Missense

c.47C>T; p.S16F; 7:139716988-139716988

skinmalignant_melanomaSubstitution - Missense

c.2375G>T; p.R792L; 7:139600477-139600477

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.366C>T; p.L122L; 7:139716669-139716669

skinmalignant_melanomaSubstitution - coding silent

c.1705A>G; p.I569V; 7:139620478-139620478

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.414C>T; p.I138I; 7:139716621-139716621

skinmalignant_melanomaSubstitution - coding silent

c.955G>T; p.G319C; 7:139716080-139716080

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2546C>T; p.P849L; 7:139596888-139596888

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1059C>G; p.V353V; 7:139715976-139715976

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1059C>G; p.V353V; 7:139715976-139715976

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.210C>A; p.S70S; 7:139716825-139716825

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1059C>G; p.V353V; 7:139715976-139715976

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1051A>G; p.S351G; 7:139715984-139715984

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDSSubstitution - Missense

c.963C>G; p.I321M; 7:139716072-139716072

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1232G>A; p.R411Q; 7:139631280-139631280

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.514A>C; p.T172P; 7:139716521-139716521

breastcarcinomaSubstitution - Missense

c.2767G>A; p.D923N; 7:139584015-139584015

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2332C>T; p.P778S; 7:139600520-139600520

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1338G>A; p.W446*; 7:139631174-139631174

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.3396G>A; p.Q1132Q; 7:139573128-139573128

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1977C>T; p.P659P; 7:139614299-139614299

skinmalignant_melanomaSubstitution - coding silent

c.1619+5G>T; p.?; 7:139626596-139626596

lungcarcinoma; squamous_cell_carcinomaUnknown

c.3087C>T; p.G1029G; 7:139575167-139575167

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.932C>T; p.A311V; 7:139716103-139716103

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.254T>C; p.V85A; 7:139716781-139716781

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.254T>C; p.V85A; 7:139716781-139716781

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.254T>C; p.V85A; 7:139716781-139716781

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.349C>T; p.R117*; 7:139716686-139716686

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.254T>C; p.V85A; 7:139716781-139716781

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.254T>C; p.V85A; 7:139716781-139716781

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2913C>T; p.P971P; 7:139583869-139583869

skinmalignant_melanomaSubstitution - coding silent

c.2913C>T; p.P971P; 7:139583869-139583869

skinmalignant_melanomaSubstitution - coding silent

c.3413C>T; p.A1138V; 7:139573111-139573111

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.713G>A; p.R238Q; 7:139716322-139716322

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1149C>A; p.D383E; 7:139631680-139631680

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.104C>T; p.P35L; 7:139716931-139716931

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2220G>A; p.E740E; 7:139604116-139604116

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.326G>A; p.G109D; 7:139716709-139716709

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2665A>G; p.T889A; 7:139596769-139596769

breastcarcinomaSubstitution - Missense

c.1771G>A; p.V591I; 7:139620412-139620412

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3523G>A; p.A1175T; 7:139573001-139573001

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2508G>A; p.E836E; 7:139596926-139596926

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.831C>T; p.F277F; 7:139716204-139716204

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1627T>G; p.S543A; 7:139620556-139620556

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1087C>T; p.Q363*; 7:139715948-139715948

large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1699_1700CC>TT; p.P567F; 7:139620483-139620484

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2374C>T; p.R792W; 7:139600478-139600478

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2726C>T; p.S909F; 7:139584056-139584056

skin; trunkmalignant_melanomaSubstitution - Missense

c.2647C>T; p.P883S; 7:139596787-139596787

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.1574C>T; p.P525L; 7:139626646-139626646

skinmalignant_melanomaSubstitution - Missense

c.199G>A; p.V67I; 7:139716836-139716836

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.199G>A; p.V67I; 7:139716836-139716836

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.199G>A; p.V67I; 7:139716836-139716836

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.199G>A; p.V67I; 7:139716836-139716836

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1975C>T; p.P659S; 7:139614301-139614301

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1313A>G; p.D438G; 7:139631199-139631199

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2865C>T; p.S955S; 7:139583917-139583917

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1325C>T; p.P442L; 7:139631187-139631187

oesophaguscarcinomaSubstitution - Missense

c.818C>T; p.T273M; 7:139716217-139716217

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2651C>A; p.T884K; 7:139596783-139596783

oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2245G>A; p.A749T; 7:139604091-139604091

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.96A>C; p.K32N; 7:139716939-139716939

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2148T>C; p.L716L; 7:139604188-139604188

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.280G>A; p.V94M; 7:139716755-139716755

breastcarcinomaSubstitution - Missense

c.1710G>A; p.T570T; 7:139620473-139620473

prostatecarcinomaSubstitution - coding silent

c.6C>T; p.A2A; 7:139777618-139777618

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.6C>T; p.A2A; 7:139777618-139777618

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.284T>C; p.V95A; 7:139716751-139716751

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.727G>T; p.E243*; 7:139716308-139716308

breastcarcinomaSubstitution - Nonsense

c.1330C>T; p.P444S; 7:139631182-139631182

skinmalignant_melanomaSubstitution - Missense

c.1734C>T; p.T578T; 7:139620449-139620449

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2602C>T; p.R868W; 7:139596832-139596832

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.763G>T; p.A255S; 7:139716272-139716272

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.320delT; p.V107fs*8; 7:139716715-139716715

skin; head_neckcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.3395A>G; p.Q1132R; 7:139573129-139573129

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3362T>C; p.V1121A; 7:139573162-139573162

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.361A>G; p.S121G; 7:139716674-139716674

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3560T>G; p.L1187R; 7:139572964-139572964

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2265T>C; p.H755H; 7:139600587-139600587

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.612C>A; p.F204L; 7:139716423-139716423

livercarcinomaSubstitution - Missense

c.1883C>T; p.A628V; 7:139614393-139614393

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1898G>A; p.R633Q; 7:139614378-139614378

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.29C>G; p.S10*; 7:139717006-139717006

oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1010G>T; p.R337I; 7:139716025-139716025

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2694G>A; p.E898E; 7:139596740-139596740

oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.3586C>T; p.P1196S; 7:139572938-139572938

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3150C>T; p.D1050D; 7:139573374-139573374

breastcarcinomaSubstitution - coding silent

c.2822G>A; p.R941H; 7:139583960-139583960

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2581G>A; p.D861N; 7:139596853-139596853

ovaryother; neoplasmSubstitution - Missense

c.405C>T; p.S135S; 7:139716630-139716630

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2684A>G; p.D895G; 7:139596750-139596750

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2878T>G; p.C960G; 7:139583904-139583904

lungcarcinoma; adenocarcinomaSubstitution - Missense


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