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

Basic Information

Gene ID

149628

Name

PYHIN1

Synonymous

pyrin and HIN domain family, member 1;PYHIN1;pyrin and HIN domain family, member 1

Definition

interferon-inducible protein X|pyrin and HIN domain-containing protein 1

Position

1q23.1

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 0.11.

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.689C>T; p.S230F; 1:158942086-158942086

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.689C>T; p.S230F; 1:158942086-158942086

 skinmalignant_melanomaSubstitution - Missense

c.689C>T; p.S230F; 1:158942086-158942086

 skinmalignant_melanomaSubstitution - Missense

c.1105G>C; p.G369R; 1:158943892-158943892

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; follicular_lymphomaSubstitution - Missense

c.1468G>A; p.A490T; 1:158973755-158973755

 prostatecarcinomaSubstitution - Missense

c.689C>T; p.S230F; 1:158942086-158942086

 skinmalignant_melanomaSubstitution - Missense

c.1084C>G; p.H362D; 1:158943871-158943871

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.471G>A; p.E157E; 1:158939139-158939139

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1092C>T; p.I364I; 1:158943879-158943879

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.469G>T; p.E157*; 1:158939137-158939137

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1060G>A; p.A354T; 1:158943847-158943847

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.671A>G; p.K224R; 1:158942068-158942068

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.672A>C; p.K224N; 1:158942069-158942069

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.714G>A; p.M238I; 1:158942111-158942111

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.753T>G; p.H251Q; 1:158942150-158942150

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.602G>T; p.R201L; 1:158941999-158941999

 meningesmeningioma; secretorySubstitution - Missense

c.842T>A; p.L281Q; 1:158942239-158942239

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.654G>A; p.M218I; 1:158942051-158942051

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1288A>C; p.T430P; 1:158944971-158944971

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.443G>C; p.G148A; 1:158939111-158939111

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.68G>T; p.R23I; 1:158936978-158936978

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.456T>C; p.S152S; 1:158939124-158939124

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.443G>C; p.G148A; 1:158939111-158939111

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.211G>T; p.E71*; 1:158937121-158937121

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.998A>G; p.H333R; 1:158942395-158942395

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1185C>T; p.F395F; 1:158943972-158943972

 skin; head_neckmalignant_melanoma; superficial_spreadingSubstitution - coding silent

c.389C>G; p.A130G; 1:158938520-158938520

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1392G>A; p.S464S; 1:158973679-158973679

 pancreascarcinomaSubstitution - coding silent

c.528C>T; p.S176S; 1:158939196-158939196

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.433G>T; p.E145*; 1:158939101-158939101

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.220A>G; p.T74A; 1:158937130-158937130

 skinmalignant_melanomaSubstitution - Missense

c.511A>G; p.T171A; 1:158939179-158939179

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.952C>T; p.H318Y; 1:158942349-158942349

 skinmalignant_melanomaSubstitution - Missense

c.1042G>T; p.D348Y; 1:158943829-158943829

 breastcarcinomaSubstitution - Missense

c.1001C>A; p.T334K; 1:158942398-158942398

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1406G>A; p.R469K; 1:158973693-158973693

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1406G>A; p.R469K; 1:158973693-158973693

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.109C>A; p.P37T; 1:158937019-158937019

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1227C>T; p.S409S; 1:158944910-158944910

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.244C>T; p.L82F; 1:158937154-158937154

 skinmalignant_melanomaSubstitution - Missense

c.1351T>C; p.F451L; 1:158945034-158945034

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1351T>C; p.F451L; 1:158945034-158945034

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.572C>T; p.S191L; 1:158939240-158939240

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1156T>C; p.S386P; 1:158943943-158943943

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.548C>T; p.S183L; 1:158939216-158939216

 skinmalignant_melanomaSubstitution - Missense

c.141G>C; p.Q47H; 1:158937051-158937051

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.48C>A; p.V16V; 1:158936958-158936958

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.602G>A; p.R201H; 1:158941999-158941999

 prostateadenomaSubstitution - Missense

c.617G>T; p.S206I; 1:158942014-158942014

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.789C>T; p.F263F; 1:158942186-158942186

 NSmalignant_melanomaSubstitution - coding silent

c.789C>T; p.F263F; 1:158942186-158942186

 NSmalignant_melanomaSubstitution - coding silent

c.1161A>C; p.K387N; 1:158943948-158943948

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.1475C>A; p.P492H; 1:158973762-158973762

 skinmalignant_melanomaSubstitution - Missense

c.1194A>G; p.I398M; 1:158944877-158944877

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.880C>A; p.P294T; 1:158942277-158942277

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1392G>T; p.S464S; 1:158973679-158973679

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1430C>A; p.P477H; 1:158973717-158973717

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.906G>A; p.K302K; 1:158942303-158942303

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.891G>A; p.T297T; 1:158942288-158942288

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.428C>T; p.S143F; 1:158939096-158939096

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.1245C>A; p.P415P; 1:158944928-158944928

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1245C>A; p.P415P; 1:158944928-158944928

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.789C>A; p.F263L; 1:158942186-158942186

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1143G>C; p.K381N; 1:158943930-158943930

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1063G>C; p.V355L; 1:158943850-158943850

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.809T>G; p.I270S; 1:158942206-158942206

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1176G>T; p.M392I; 1:158943963-158943963

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.423_424insA; p.P142fs*3; 1:158939091-158939092

 autonomic_ganglianeuroblastomaInsertion - Frameshift

c.168C>T; p.F56F; 1:158937078-158937078

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1423G>T; p.V475L; 1:158973710-158973710

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.785A>G; p.K262R; 1:158942182-158942182

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.589C>A; p.P197T; 1:158941986-158941986

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1381G>T; p.A461S; 1:158973668-158973668

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.648C>T; p.I216I; 1:158942045-158942045

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1363G>A; p.D455N; 1:158973650-158973650

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.648C>T; p.I216I; 1:158942045-158942045

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.139C>T; p.Q47*; 1:158937049-158937049

 breastcarcinomaSubstitution - Nonsense

c.452G>A; p.R151K; 1:158939120-158939120

 skinmalignant_melanomaSubstitution - Missense

c.761delT; p.L255fs*1; 1:158942158-158942158

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1111A>C; p.K371Q; 1:158943898-158943898

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; follicular_lymphomaSubstitution - Missense

c.935C>T; p.P312L; 1:158942332-158942332

 skinmalignant_melanomaSubstitution - Missense

c.935C>T; p.P312L; 1:158942332-158942332

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.132C>A; p.D44E; 1:158937042-158937042

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.625A>T; p.I209F; 1:158942022-158942022

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.353C>T; p.A118V; 1:158938484-158938484

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.92A>G; p.N31S; 1:158937002-158937002

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.58T>C; p.Y20H; 1:158936968-158936968

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1427C>T; p.A476V; 1:158973714-158973714

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.718C>T; p.H240Y; 1:158942115-158942115

 skinmalignant_melanomaSubstitution - Missense

c.1020G>T; p.K340N; 1:158943807-158943807

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.571T>G; p.S191A; 1:158939239-158939239

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1472delT; p.P492fs?; 1:158973759-158973759

 prostateadenomaDeletion - Frameshift

c.117G>A; p.M39I; 1:158937027-158937027

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.638A>G; p.D213G; 1:158942035-158942035

 ovaryother; neoplasmSubstitution - Missense

c.524G>A; p.R175H; 1:158939192-158939192

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.524G>A; p.R175H; 1:158939192-158939192

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1168T>G; p.S390A; 1:158943955-158943955

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.452G>T; p.R151M; 1:158939120-158939120

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.376A>G; p.T126A; 1:158938507-158938507

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.160G>A; p.E54K; 1:158937070-158937070

 skinmalignant_melanomaSubstitution - Missense

c.609A>G; p.A203A; 1:158942006-158942006

 livercarcinomaSubstitution - coding silent

c.500C>A; p.A167D; 1:158939168-158939168

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.199G>A; p.E67K; 1:158937109-158937109

 skin; axillamalignant_melanomaSubstitution - Missense

c.199G>A; p.E67K; 1:158937109-158937109

 skin; trunkmalignant_melanomaSubstitution - Missense

c.500C>A; p.A167D; 1:158939168-158939168

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.468A>T; p.K156N; 1:158939136-158939136

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.401T>G; p.L134R; 1:158938532-158938532

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1105G>A; p.G369R; 1:158943892-158943892

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1451C>A; p.S484Y; 1:158973738-158973738

 breastcarcinomaSubstitution - Missense

c.666A>G; p.A222A; 1:158942063-158942063

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.236C>A; p.A79D; 1:158937146-158937146

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.507G>A; p.T169T; 1:158939175-158939175

 pancreascarcinomaSubstitution - coding silent

c.631C>T; p.R211*; 1:158942028-158942028

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.783G>A; p.R261R; 1:158942180-158942180

 skinmalignant_melanomaSubstitution - coding silent

c.1342A>G; p.S448G; 1:158945025-158945025

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.799A>T; p.R267*; 1:158942196-158942196

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.830G>A; p.R277H; 1:158942227-158942227

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.865G>T; p.V289L; 1:158942262-158942262

 breastcarcinomaSubstitution - Missense

c.1351T>A; p.F451I; 1:158945034-158945034

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.796A>G; p.K266E; 1:158942193-158942193

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.1189C>T; p.Q397*; 1:158943976-158943976

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.187G>T; p.G63C; 1:158937097-158937097

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.437A>G; p.E146G; 1:158939105-158939105

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.437A>G; p.E146G; 1:158939105-158939105

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.453G>C; p.R151S; 1:158939121-158939121

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.899T>C; p.V300A; 1:158942296-158942296

 skinmalignant_melanomaSubstitution - Missense

c.453G>A; p.R151R; 1:158939121-158939121

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.6A>C; p.A2A; 1:158936916-158936916

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1461C>A; p.R487R; 1:158973748-158973748

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.340C>T; p.P114S; 1:158938471-158938471

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1042G>C; p.D348H; 1:158943829-158943829

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.340C>T; p.P114S; 1:158938471-158938471

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.340C>T; p.P114S; 1:158938471-158938471

 skinmalignant_melanomaSubstitution - Missense

c.1022C>T; p.T341M; 1:158943809-158943809

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.447C>A; p.T149T; 1:158939115-158939115

 livercarcinomaSubstitution - coding silent

c.1132C>T; p.R378*; 1:158943919-158943919

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1132C>T; p.R378*; 1:158943919-158943919

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1132C>T; p.R378*; 1:158943919-158943919

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.410A>G; p.Q137R; 1:158938541-158938541

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1022C>T; p.T341M; 1:158943809-158943809

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.386G>A; p.G129E; 1:158938517-158938517

 skinmalignant_melanomaSubstitution - Missense

c.1316C>T; p.P439L; 1:158944999-158944999

 skinmalignant_melanomaSubstitution - Missense

c.807C>T; p.I269I; 1:158942204-158942204

 skinmalignant_melanomaSubstitution - coding silent

c.442G>A; p.G148R; 1:158939110-158939110

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.364A>C; p.S122R; 1:158938495-158938495

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1023G>A; p.T341T; 1:158943810-158943810

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.1023G>A; p.T341T; 1:158943810-158943810

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.702G>T; p.E234D; 1:158942099-158942099

 livercarcinomaSubstitution - Missense

c.606C>A; p.H202Q; 1:158942003-158942003

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.574A>G; p.T192A; 1:158939242-158939242

 skinmalignant_melanomaSubstitution - Missense

c.51C>A; p.I17I; 1:158936961-158936961

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1118G>A; p.R373Q; 1:158943905-158943905

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1118G>A; p.R373Q; 1:158943905-158943905

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1117C>T; p.R373*; 1:158943904-158943904

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1117C>T; p.R373*; 1:158943904-158943904

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.37G>A; p.G13R; 1:158936947-158936947

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1117C>T; p.R373*; 1:158943904-158943904

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1127G>T; p.C376F; 1:158943914-158943914

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1396G>C; p.A466P; 1:158973683-158973683

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.465C>T; p.S155S; 1:158939133-158939133

 skinmalignant_melanomaSubstitution - coding silent

c.1205C>A; p.T402K; 1:158944888-158944888

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.406C>T; p.P136S; 1:158938537-158938537

 livercarcinomaSubstitution - Missense

c.243T>G; p.T81T; 1:158937153-158937153

 prostatecarcinomaSubstitution - coding silent

c.1190A>T; p.Q397L; 1:158943977-158943977

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1453A>T; p.T485S; 1:158973740-158973740

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.284C>T; p.S95F; 1:158938415-158938415

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.181G>A; p.G61S; 1:158937091-158937091

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.18G>A; p.K6K; 1:158936928-158936928

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.921A>T; p.R307S; 1:158942318-158942318

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.535C>T; p.P179S; 1:158939203-158939203

 skinmalignant_melanomaSubstitution - Missense

c.1391C>A; p.S464*; 1:158973678-158973678

 prostatecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1320G>T; p.Q440H; 1:158945003-158945003

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1315C>T; p.P439S; 1:158944998-158944998

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1315C>T; p.P439S; 1:158944998-158944998

 skinmalignant_melanomaSubstitution - Missense

c.1396G>A; p.A466T; 1:158973683-158973683

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1435C>A; p.L479I; 1:158973722-158973722

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.436G>T; p.E146*; 1:158939104-158939104

 skinmalignant_melanomaSubstitution - Nonsense

c.1352T>C; p.F451S; 1:158945035-158945035

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1352T>C; p.F451S; 1:158945035-158945035

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.94G>A; p.D32N; 1:158937004-158937004

 skin; legmalignant_melanomaSubstitution - Missense

c.94G>A; p.D32N; 1:158937004-158937004

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.94G>A; p.D32N; 1:158937004-158937004

 NSmalignant_melanomaSubstitution - Missense

c.94G>A; p.D32N; 1:158937004-158937004

 skinmalignant_melanomaSubstitution - Missense

c.94G>A; p.D32N; 1:158937004-158937004

 skin; legmalignant_melanomaSubstitution - Missense

c.94G>A; p.D32N; 1:158937004-158937004

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.94G>A; p.D32N; 1:158937004-158937004

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.736C>T; p.Q246*; 1:158942133-158942133

 livercarcinomaSubstitution - Nonsense

c.430G>A; p.E144K; 1:158939098-158939098

 breastcarcinomaSubstitution - Missense

c.649G>A; p.A217T; 1:158942046-158942046

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.630C>T; p.F210F; 1:158942027-158942027

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.416_417insA; p.P142fs*3; 1:158939084-158939085

 large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.1285A>G; p.T429A; 1:158944968-158944968

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.936G>A; p.P312P; 1:158942333-158942333

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.784A>G; p.K262E; 1:158942181-158942181

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.170C>T; p.P57L; 1:158937080-158937080

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.876T>G; p.A292A; 1:158942273-158942273

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.936G>A; p.P312P; 1:158942333-158942333

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.936G>A; p.P312P; 1:158942333-158942333

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.936G>A; p.P312P; 1:158942333-158942333

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.936G>A; p.P312P; 1:158942333-158942333

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.936G>A; p.P312P; 1:158942333-158942333

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.1095C>T; p.P365P; 1:158943882-158943882

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1318C>T; p.Q440*; 1:158945001-158945001

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1375C>A; p.P459T; 1:158973662-158973662

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.327G>A; p.Q109Q; 1:158938458-158938458

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.327G>A; p.Q109Q; 1:158938458-158938458

 skinmalignant_melanomaSubstitution - coding silent

c.327G>A; p.Q109Q; 1:158938458-158938458

 skinmalignant_melanomaSubstitution - coding silent

c.172G>A; p.G58S; 1:158937082-158937082

 pancreasNSSubstitution - Missense

c.391G>T; p.E131*; 1:158938522-158938522

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Nonsense

c.863C>T; p.S288F; 1:158942260-158942260

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1133G>A; p.R378Q; 1:158943920-158943920

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.120A>T; p.K40N; 1:158937030-158937030

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.521G>A; p.G174D; 1:158939189-158939189

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1014T>C; p.N338N; 1:158943801-158943801

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.956A>T; p.K319I; 1:158942353-158942353

 breastcarcinomaSubstitution - Missense

c.869C>T; p.S290F; 1:158942266-158942266

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1376C>A; p.P459Q; 1:158973663-158973663

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1217G>A; p.S406N; 1:158944900-158944900

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.424C>A; p.P142T; 1:158939092-158939092

 pancreascarcinomaSubstitution - Missense

c.424C>A; p.P142T; 1:158939092-158939092

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1258C>A; p.Q420K; 1:158944941-158944941

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1315C>A; p.P439T; 1:158944998-158944998

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1315C>A; p.P439T; 1:158944998-158944998

 breastcarcinomaSubstitution - Missense

c.724A>G; p.T242A; 1:158942121-158942121

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.307C>A; p.P103T; 1:158938438-158938438

 breastcarcinomaSubstitution - Missense

c.739A>G; p.T247A; 1:158942136-158942136

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.867A>G; p.V289V; 1:158942264-158942264

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.307C>A; p.P103T; 1:158938438-158938438

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.485C>T; p.S162F; 1:158939153-158939153

 skinmalignant_melanomaSubstitution - Missense

c.607G>A; p.A203T; 1:158942004-158942004

 pancreascarcinomaSubstitution - Missense

c.1353C>G; p.F451L; 1:158945036-158945036

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1406G>T; p.R469I; 1:158973693-158973693

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

')