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

Basic Information

Gene ID

23239

Name

PHLPP1

Synonymous

PH domain and leucine rich repeat protein phosphatase 1;PHLPP1;PH domain and leucine rich repeat protein phosphatase 1

Definition

PH domain leucine-rich repeat-containing protein phosphatase 1|PH domain-containing family E member 1|SCN circadian oscillatory protein|pleckstrin homology domain containing, family E (with leucine rich repeats) member 1|suprachiasmatic nucleus circadian

Position

18q21.33

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 0.16.

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.4714A>C; p.S1572R; 18:62978991-62978991

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4183G>T; p.A1395S; 18:62978460-62978460

 biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - Missense

c.2236G>T; p.G746*; 18:62895803-62895803

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.4016C>T; p.T1339M; 18:62978293-62978293

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.749A>T; p.Q250L; 18:62716432-62716432

 livercarcinomaSubstitution - Missense

c.749A>T; p.Q250L; 18:62716432-62716432

 livercarcinomaSubstitution - Missense

c.2452G>A; p.V818I; 18:62902971-62902971

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.4922C>T; p.T1641I; 18:62979199-62979199

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1864A>T; p.T622S; 18:62838874-62838874

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.2179C>T; p.R727*; 18:62895123-62895123

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.2179C>T; p.R727*; 18:62895123-62895123

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.4994T>C; p.I1665T; 18:62979271-62979271

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4719G>T; p.R1573R; 18:62978996-62978996

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.4721C>T; p.A1574V; 18:62978998-62978998

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.4499C>T; p.P1500L; 18:62978776-62978776

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2245C>A; p.L749I; 18:62895812-62895812

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.4856G>T; p.G1619V; 18:62979133-62979133

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4927G>A; p.A1643T; 18:62979204-62979204

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.4927G>A; p.A1643T; 18:62979204-62979204

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1544C>G; p.S515W; 18:62717227-62717227

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4908G>A; p.V1636V; 18:62979185-62979185

 breastcarcinomaSubstitution - coding silent

c.4936C>T; p.R1646*; 18:62979213-62979213

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.4936C>T; p.R1646*; 18:62979213-62979213

 skinmalignant_melanomaSubstitution - Nonsense

c.3500C>T; p.A1167V; 18:62963412-62963412

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.621C>T; p.F207F; 18:62716304-62716304

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.3817G>A; p.D1273N; 18:62975458-62975458

 breastcarcinomaSubstitution - Missense

c.3645G>A; p.V1215V; 18:62972598-62972598

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.4425C>T; p.S1475S; 18:62978702-62978702

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1971C>A; p.F657L; 18:62860506-62860506

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2197G>A; p.V733I; 18:62895141-62895141

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2197G>A; p.V733I; 18:62895141-62895141

 pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.3749T>C; p.M1250T; 18:62972702-62972702

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.2397G>C; p.R799S; 18:62895964-62895964

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1678C>T; p.R560C; 18:62830136-62830136

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1678C>T; p.R560C; 18:62830136-62830136

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1949A>T; p.E650V; 18:62860484-62860484

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1678C>T; p.R560C; 18:62830136-62830136

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.4620C>G; p.F1540L; 18:62978897-62978897

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1937G>C; p.C646S; 18:62860472-62860472

 pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.4512C>T; p.S1504S; 18:62978789-62978789

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.4512C>T; p.S1504S; 18:62978789-62978789

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.3087G>A; p.V1029V; 18:62941844-62941844

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.3174A>C; p.K1058N; 18:62945121-62945121

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2596A>G; p.T866A; 18:62903115-62903115

 livercarcinomaSubstitution - Missense

c.3618T>C; p.Y1206Y; 18:62972571-62972571

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.3529G>T; p.G1177C; 18:62963441-62963441

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3256C>T; p.H1086Y; 18:62945203-62945203

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.5053_5055delCAG; p.Q1689delQ; 18:62979330-62979332

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - In frame

c.5053_5055delCAG; p.Q1689delQ; 18:62979330-62979332

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.2960+4A>C; p.?; 18:62920118-62920118

 livercarcinomaUnknown

c.2960+4A>C; p.?; 18:62920118-62920118

 livercarcinoma; hepatocellular_carcinomaUnknown

c.1569C>G; p.F523L; 18:62717252-62717252

 breastcarcinomaSubstitution - Missense

c.4413C>T; p.S1471S; 18:62978690-62978690

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1776_1778delAGA; p.E594delE; 18:62838786-62838788

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.4726G>A; p.E1576K; 18:62979003-62979003

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2437G>T; p.D813Y; 18:62896004-62896004

 bone; femurchondrosarcomaSubstitution - Missense

c.4061G>A; p.R1354H; 18:62978338-62978338

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.3007C>T; p.P1003S; 18:62941764-62941764

 skinmalignant_melanomaSubstitution - Missense

c.3059C>G; p.T1020R; 18:62941816-62941816

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1910A>T; p.Q637L; 18:62860445-62860445

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.3376delC; p.L1126fs*8; 18:62958680-62958680

 soft_tissue; striated_musclerhabdomyosarcoma; alveolarDeletion - Frameshift

c.3316G>C; p.E1106Q; 18:62945263-62945263

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2829G>A; p.R943R; 18:62919983-62919983

 breastcarcinomaSubstitution - coding silent

c.2242T>G; p.F748V; 18:62895809-62895809

 breastcarcinomaSubstitution - Missense

c.4416C>T; p.G1472G; 18:62978693-62978693

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.4826A>C; p.K1609T; 18:62979103-62979103

 soft_tissue; blood_vesselangiosarcomaSubstitution - Missense

c.3027G>C; p.E1009D; 18:62941784-62941784

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3541G>A; p.A1181T; 18:62963453-62963453

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3541G>A; p.A1181T; 18:62963453-62963453

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3541G>A; p.A1181T; 18:62963453-62963453

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.4725G>A; p.K1575K; 18:62979002-62979002

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.3499G>A; p.A1167T; 18:62963411-62963411

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.4782C>T; p.G1594G; 18:62979059-62979059

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.4496C>T; p.P1499L; 18:62978773-62978773

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1517G>A; p.W506*; 18:62717200-62717200

 thyroidother; neoplasmSubstitution - Nonsense

c.4276G>A; p.E1426K; 18:62978553-62978553

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1066G>A; p.A356T; 18:62716749-62716749

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3849G>C; p.L1283F; 18:62975490-62975490

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1692A>G; p.L564L; 18:62830150-62830150

 livercarcinomaSubstitution - coding silent

c.3253A>C; p.M1085L; 18:62945200-62945200

 ovaryother; neoplasmSubstitution - Missense

c.2143A>G; p.T715A; 18:62895087-62895087

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.5004G>A; p.P1668P; 18:62979281-62979281

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.4813G>A; p.G1605S; 18:62979090-62979090

 livercarcinomaSubstitution - Missense

c.4813G>A; p.G1605S; 18:62979090-62979090

 livercarcinomaSubstitution - Missense

c.4484C>T; p.S1495F; 18:62978761-62978761

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3889C>T; p.R1297*; 18:62975530-62975530

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.3889C>T; p.R1297*; 18:62975530-62975530

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.3889C>T; p.R1297*; 18:62975530-62975530

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.4048A>T; p.S1350C; 18:62978325-62978325

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.3949A>G; p.K1317E; 18:62975590-62975590

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2445-1G>A; p.?; 18:62902963-62902963

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.3400G>C; p.D1134H; 18:62958704-62958704

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1012C>A; p.R338S; 18:62716695-62716695

 kidneyother; neoplasmSubstitution - Missense

c.2184A>G; p.S728S; 18:62895128-62895128

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.4665C>T; p.G1555G; 18:62978942-62978942

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.4931C>T; p.P1644L; 18:62979208-62979208

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4348C>T; p.P1450S; 18:62978625-62978625

 skinmalignant_melanomaSubstitution - Missense

c.1515G>C; p.L505L; 18:62717198-62717198

 thyroidother; neoplasmSubstitution - coding silent

c.3298G>A; p.E1100K; 18:62945245-62945245

 breastcarcinomaSubstitution - Missense

c.2384T>C; p.V795A; 18:62895951-62895951

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3560+2T>C; p.?; 18:62963474-62963474

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.3766A>G; p.T1256A; 18:62975407-62975407

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.4069G>T; p.V1357L; 18:62978346-62978346

 livercarcinomaSubstitution - Missense

c.4069G>T; p.V1357L; 18:62978346-62978346

 livercarcinomaSubstitution - Missense

c.4258G>A; p.V1420M; 18:62978535-62978535

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.4952A>G; p.Y1651C; 18:62979229-62979229

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.4180G>A; p.D1394N; 18:62978457-62978457

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2648A>T; p.E883V; 18:62905224-62905224

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.3817_3818insA; p.D1273fs*15; 18:62975458-62975459

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.4765G>A; p.E1589K; 18:62979042-62979042

 breastcarcinomaSubstitution - Missense

c.4297G>A; p.E1433K; 18:62978574-62978574

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2601A>G; p.L867L; 18:62903120-62903120

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.3700_3701insA; p.T1236fs*38; 18:62972653-62972654

 large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.3700_3701insA; p.T1236fs*38; 18:62972653-62972654

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.4464C>T; p.S1488S; 18:62978741-62978741

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2102A>G; p.N701S; 18:62895046-62895046

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1559T>A; p.L520H; 18:62717242-62717242

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.4464C>T; p.S1488S; 18:62978741-62978741

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1011C>T; p.P337P; 18:62716694-62716694

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1011C>T; p.P337P; 18:62716694-62716694

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2121A>T; p.P707P; 18:62895065-62895065

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.871T>G; p.F291V; 18:62716554-62716554

 thyroidother; neoplasmSubstitution - Missense

c.3917G>T; p.R1306I; 18:62975558-62975558

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.3337A>G; p.S1113G; 18:62958641-62958641

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1607G>A; p.R536Q; 18:62830065-62830065

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1546G>T; p.E516*; 18:62717229-62717229

 breastcarcinomaSubstitution - Nonsense

c.2956G>A; p.D986N; 18:62920110-62920110

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1753C>A; p.L585M; 18:62830211-62830211

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.2682T>A; p.N894K; 18:62905258-62905258

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.3809T>A; p.I1270N; 18:62975450-62975450

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1885C>T; p.R629*; 18:62838895-62838895

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.3186T>C; p.L1062L; 18:62945133-62945133

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.3799_3804delCTTTGT; p.L1267_C1268delLC; 18:62975440-62975445

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourDeletion - In frame

c.3750G>T; p.M1250I; 18:62972703-62972703

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.3750G>T; p.M1250I; 18:62972703-62972703

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4104C>A; p.F1368L; 18:62978381-62978381

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4163C>T; p.A1388V; 18:62978440-62978440

 skinmalignant_melanomaSubstitution - Missense

c.3792C>T; p.A1264A; 18:62975433-62975433

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.3239T>G; p.M1080R; 18:62945186-62945186

 skinmalignant_melanomaSubstitution - Missense

c.1738G>C; p.G580R; 18:62830196-62830196

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.4620C>T; p.F1540F; 18:62978897-62978897

 skinmalignant_melanomaSubstitution - coding silent

c.4325C>A; p.P1442Q; 18:62978602-62978602

 thyroidother; neoplasmSubstitution - Missense

c.1832G>A; p.S611N; 18:62838842-62838842

 skinmalignant_melanomaSubstitution - Missense

c.4804G>A; p.D1602N; 18:62979081-62979081

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3604C>T; p.R1202C; 18:62972557-62972557

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.4099G>A; p.E1367K; 18:62978376-62978376

 pancreascarcinomaSubstitution - Missense

c.3976A>G; p.I1326V; 18:62975617-62975617

 breastcarcinomaSubstitution - Missense

c.4795G>A; p.A1599T; 18:62979072-62979072

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.4513G>A; p.E1505K; 18:62978790-62978790

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3462C>T; p.I1154I; 18:62963374-62963374

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.4305C>T; p.S1435S; 18:62978582-62978582

 pancreascarcinomaSubstitution - coding silent

c.531G>T; p.L177L; 18:62716214-62716214

 livercarcinomaSubstitution - coding silent

c.2336T>G; p.L779W; 18:62895903-62895903

 skinmalignant_melanomaSubstitution - Missense

c.1523T>G; p.V508G; 18:62717206-62717206

 skinmalignant_melanomaSubstitution - Missense

c.3652C>T; p.P1218S; 18:62972605-62972605

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.4246A>G; p.S1416G; 18:62978523-62978523

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2977G>A; p.A993T; 18:62941734-62941734

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4268G>T; p.S1423I; 18:62978545-62978545

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1937G>A; p.C646Y; 18:62860472-62860472

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2862G>T; p.R954S; 18:62920016-62920016

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1821T>C; p.S607S; 18:62838831-62838831

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1923A>C; p.S641S; 18:62860458-62860458

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.2862G>T; p.R954S; 18:62920016-62920016

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2716T>A; p.L906I; 18:62914920-62914920

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2862G>T; p.R954S; 18:62920016-62920016

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.4858C>T; p.R1620C; 18:62979135-62979135

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.4629C>T; p.N1543N; 18:62978906-62978906

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.3929T>C; p.M1310T; 18:62975570-62975570

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1822G>T; p.G608*; 18:62838832-62838832

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1635C>T; p.V545V; 18:62830093-62830093

 skinmalignant_melanomaSubstitution - coding silent

c.2706A>G; p.S902S; 18:62905282-62905282

 breastcarcinomaSubstitution - coding silent

c.4196C>T; p.A1399V; 18:62978473-62978473

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.4018C>T; p.R1340C; 18:62978295-62978295

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.4308C>T; p.A1436A; 18:62978585-62978585

 breastcarcinomaSubstitution - coding silent

c.491C>T; p.S164L; 18:62716174-62716174

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3245G>A; p.C1082Y; 18:62945192-62945192

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.3492A>G; p.T1164T; 18:62963404-62963404

 livercarcinomaSubstitution - coding silent

c.3833G>A; p.G1278E; 18:62975474-62975474

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4543C>T; p.R1515C; 18:62978820-62978820

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

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