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

Basic Information

Gene ID

6925

Name

TCF4

Synonymous

transcription factor 4;TCF4;transcription factor 4

Definition

SL3-3 enhancer factor 2|class B basic helix-loop-helix protein 19|immunoglobulin transcription factor 2

Position

18q21.1

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

There is no record for TCF4

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 0.22.

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.951C>A; p.S317R; 18:55261505-55261505

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.240G>C; p.M80I; 18:55461083-55461083

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.143C>T; p.S48L; 18:55585282-55585282

 breastcarcinomaSubstitution - Missense

c.3G>A; p.M1I; 18:55587114-55587114

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1785C>T; p.L595L; 18:55228929-55228929

 breastcarcinomaSubstitution - coding silent

c.678T>A; p.P226P; 18:55275730-55275730

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.990G>A; p.S330S; 18:55261466-55261466

 breastcarcinomaSubstitution - coding silent

c.520C>T; p.R174*; 18:55350388-55350388

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.520C>T; p.R174*; 18:55350388-55350388

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.215G>C; p.G72A; 18:55461108-55461108

 breastcarcinomaSubstitution - Missense

c.718delG; p.G240fs*24; 18:55275690-55275690

 prostatecarcinoma; adenocarcinomaDeletion - Frameshift

c.520C>T; p.R174*; 18:55350388-55350388

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.520C>T; p.R174*; 18:55350388-55350388

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.473G>A; p.R158K; 18:55350900-55350900

 skin; trunkmalignant_melanomaSubstitution - Missense

c.1876C>G; p.L626V; 18:55228353-55228353

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1117C>T; p.P373S; 18:55257344-55257344

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.1596G>A; p.K532K; 18:55232562-55232562

 skinmalignant_melanomaSubstitution - coding silent

c.932G>A; p.G311E; 18:55261524-55261524

 skinmalignant_melanomaSubstitution - Missense

c.1857G>C; p.Q619H; 18:55228857-55228857

 breastcarcinomaSubstitution - Missense

c.470G>A; p.R157Q; 18:55350903-55350903

 skinmalignant_melanomaSubstitution - Missense

c.114T>G; p.T38T; 18:55585311-55585311

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1812C>G; p.L604L; 18:55228902-55228902

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; chronic_myelomonocytic_leukaemiaSubstitution - coding silent

c.1105G>A; p.A369T; 18:55257356-55257356

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.1366G>A; p.E456K; 18:55234668-55234668

 skinmalignant_melanomaSubstitution - Missense

c.337G>T; p.G113W; 18:55403486-55403486

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.61G>T; p.D21Y; 18:55587056-55587056

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.278C>T; p.P93L; 18:55461045-55461045

 skinmalignant_melanomaSubstitution - Missense

c.278C>T; p.P93L; 18:55461045-55461045

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1786A>G; p.K596E; 18:55228928-55228928

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.842C>A; p.S281Y; 18:55269911-55269911

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.417T>G; p.L139L; 18:55350956-55350956

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.885C>T; p.S295S; 18:55269868-55269868

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.557C>T; p.A186V; 18:55279649-55279649

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.557C>T; p.A186V; 18:55279649-55279649

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1884G>A; p.P628P; 18:55228345-55228345

 skinmalignant_melanomaSubstitution - coding silent

c.1883_1892del10; p.P628fs*3; 18:55228337-55228346

 central_nervous_system; brainstemglioma; astrocytoma_Grade_IIDeletion - Frameshift

c.418T>A; p.S140T; 18:55350955-55350955

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1397C>A; p.S466Y; 18:55234637-55234637

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1963C>T; p.P655S; 18:55228266-55228266

 skinmalignant_melanomaSubstitution - Missense

c.1963C>T; p.P655S; 18:55228266-55228266

 skinmalignant_melanomaSubstitution - Missense

c.509C>T; p.T170I; 18:55350399-55350399

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.71C>T; p.A24V; 18:55587046-55587046

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.243C>T; p.T81T; 18:55461080-55461080

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1109C>T; p.S370L; 18:55257352-55257352

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1978G>T; p.A660S; 18:55228251-55228251

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.9C>T; p.H3H; 18:55587108-55587108

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1041T>G; p.T347T; 18:55259977-55259977

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - coding silent

c.323C>T; p.S108L; 18:55403500-55403500

 skinmalignant_melanomaSubstitution - Missense

c.893C>T; p.P298L; 18:55269860-55269860

 skinmalignant_melanomaSubstitution - Missense

c.1982C>T; p.S661L; 18:55228247-55228247

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1982C>T; p.S661L; 18:55228247-55228247

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1940C>T; p.P647L; 18:55228289-55228289

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.989C>T; p.S330L; 18:55261467-55261467

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1465C>T; p.P489S; 18:55234569-55234569

 skinmalignant_melanomaSubstitution - Missense

c.1864C>T; p.R622*; 18:55228850-55228850

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.943G>A; p.A315T; 18:55261513-55261513

 skinmalignant_melanomaSubstitution - Missense

c.1567C>G; p.L523V; 18:55232591-55232591

 breastcarcinomaSubstitution - Missense

c.293C>T; p.S98F; 18:55461030-55461030

 skinmalignant_melanomaSubstitution - Missense

c.943G>A; p.A315T; 18:55261513-55261513

 skinmalignant_melanomaSubstitution - Missense

c.1743C>T; p.N581N; 18:55228971-55228971

 breastcarcinomaSubstitution - coding silent

c.975G>A; p.G325G; 18:55261481-55261481

 skinmalignant_melanomaSubstitution - coding silent

c.1054C>T; p.P352S; 18:55259964-55259964

 skin; upper_legmalignant_melanomaSubstitution - Missense

c.936C>T; p.S312S; 18:55261520-55261520

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.936C>T; p.S312S; 18:55261520-55261520

 breastcarcinomaSubstitution - coding silent

c.1603G>C; p.D535H; 18:55232555-55232555

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1249G>A; p.D417N; 18:55254598-55254598

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1249G>A; p.D417N; 18:55254598-55254598

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.179G>T; p.G60V; 18:55464104-55464104

 skin; extremitymalignant_melanomaSubstitution - Missense

c.1761C>T; p.L587L; 18:55228953-55228953

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.998C>A; p.S333Y; 18:55260020-55260020

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1100G>A; p.G367E; 18:55257361-55257361

 skinmalignant_melanomaSubstitution - Missense

c.1697G>T; p.R566M; 18:55229017-55229017

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1765C>T; p.R589C; 18:55228949-55228949

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1972G>T; p.G658*; 18:55228257-55228257

 ovarycarcinoma; serous_carcinomaSubstitution - Nonsense

c.1078G>T; p.A360S; 18:55257383-55257383

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1141T>C; p.S381P; 18:55257320-55257320

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1001C>T; p.P334L; 18:55260017-55260017

 skinmalignant_melanomaSubstitution - Missense

c.30A>G; p.L10L; 18:55587087-55587087

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.867C>T; p.N289N; 18:55269886-55269886

 skin; legmalignant_melanoma; superficial_spreadingSubstitution - coding silent

c.1591G>T; p.D531Y; 18:55232567-55232567

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1816A>T; p.I606F; 18:55228898-55228898

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.937G>A; p.G313R; 18:55261519-55261519

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.912_913insC; p.S305fs*6; 18:55269840-55269841

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaInsertion - Frameshift

c.650T>C; p.M217T; 18:55279556-55279556

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; chronic_myelomonocytic_leukaemiaSubstitution - Missense

c.656-1G>T; p.?; 18:55275753-55275753

 livercarcinoma; hepatocellular_carcinomaUnknown

c.1862T>A; p.V621D; 18:55228852-55228852

 haematopoietic_and_lymphoid_tissue; spleenlymphoid_neoplasm; marginal_zone_lymphomaSubstitution - Missense

c.648C>T; p.F216F; 18:55279558-55279558

 skinmalignant_melanomaSubstitution - coding silent

c.844delA; p.T282fs*25; 18:55269909-55269909

 central_nervous_system; midbrainglioma; oligoastrocytoma_Grade_IIIDeletion - Frameshift

c.217G>A; p.D73N; 18:55461106-55461106

 skinmalignant_melanomaSubstitution - Missense

c.684C>G; p.S228R; 18:55275724-55275724

 skinmalignant_melanomaSubstitution - Missense

c.1829C>T; p.A610V; 18:55228885-55228885

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1819C>T; p.L607F; 18:55228895-55228895

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1925C>T; p.S642F; 18:55228304-55228304

 skin; head_neckmalignant_melanoma; superficial_spreadingSubstitution - Missense

c.1720C>T; p.R574C; 18:55228994-55228994

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.421C>T; p.P141S; 18:55350952-55350952

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.1940delC; p.P647fs*>21; 18:55228289-55228289

 oesophaguscarcinoma; adenocarcinomaDeletion - Frameshift

c.1520C>T; p.S507F; 18:55232638-55232638

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.1940delC; p.P647fs*>21; 18:55228289-55228289

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.153A>C; p.E51D; 18:55464130-55464130

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1942C>T; p.L648F; 18:55228287-55228287

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.319G>A; p.G107S; 18:55403504-55403504

 skinmalignant_melanomaSubstitution - Missense

c.1733G>T; p.R578L; 18:55228981-55228981

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1608C>T; p.D536D; 18:55232550-55232550

 pancreascarcinomaSubstitution - coding silent

c.1042C>T; p.P348S; 18:55259976-55259976

 skinmalignant_melanomaSubstitution - Missense

c.1258G>A; p.G420R; 18:55254589-55254589

 skinmalignant_melanomaSubstitution - Missense

c.1530C>T; p.S510S; 18:55232628-55232628

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1456G>T; p.D486Y; 18:55234578-55234578

 breastcarcinomaSubstitution - Missense

c.1632T>A; p.I544I; 18:55232526-55232526

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.897T>A; p.P299P; 18:55269856-55269856

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.897T>A; p.P299P; 18:55269856-55269856

 livercarcinomaSubstitution - coding silent

c.1868-1G>A; p.?; 18:55228362-55228362

 skinmalignant_melanomaUnknown

c.953C>T; p.S318F; 18:55261503-55261503

 skinmalignant_melanomaSubstitution - Missense

c.151G>T; p.E51*; 18:55464132-55464132

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1059A>G; p.P353P; 18:55259959-55259959

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.327C>T; p.Y109Y; 18:55403496-55403496

 pancreascarcinomaSubstitution - coding silent

c.1978G>A; p.A660T; 18:55228251-55228251

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.781G>A; p.E261K; 18:55275627-55275627

 skinmalignant_melanomaSubstitution - Missense

c.1635T>G; p.T545T; 18:55232523-55232523

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.521G>A; p.R174Q; 18:55350387-55350387

 skinmalignant_melanomaSubstitution - Missense

c.9C>A; p.H3Q; 18:55587108-55587108

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.552C>T; p.V184V; 18:55279654-55279654

 skinmalignant_melanomaSubstitution - coding silent

c.1269A>G; p.G423G; 18:55254578-55254578

 pancreascarcinomaSubstitution - coding silent

c.36G>A; p.T12T; 18:55587081-55587081

 skinmalignant_melanomaSubstitution - coding silent

c.1855C>T; p.Q619*; 18:55228859-55228859

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Nonsense

c.530C>A; p.P177H; 18:55350378-55350378

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1637+6G>C; p.?; 18:55232515-55232515

 breastcarcinoma; basal_(triple-negative)_carcinomaUnknown

c.1025C>T; p.S342L; 18:55259993-55259993

 skinmalignant_melanomaSubstitution - Missense

c.1458C>A; p.D486E; 18:55234576-55234576

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1275T>C; p.S425S; 18:55254572-55254572

 breastcarcinomaSubstitution - coding silent

c.1954G>A; p.G652S; 18:55228275-55228275

 prostatecarcinomaSubstitution - Missense

c.1983G>A; p.S661S; 18:55228246-55228246

 skinmalignant_melanomaSubstitution - coding silent

c.525A>C; p.K175N; 18:55350383-55350383

 breastcarcinomaSubstitution - Missense

c.1484G>A; p.R495K; 18:55234550-55234550

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.651G>A; p.M217I; 18:55279555-55279555

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.658G>A; p.G220S; 18:55275750-55275750

 skinmalignant_melanomaSubstitution - Missense

c.1266T>C; p.I422I; 18:55254581-55254581

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.726G>T; p.L242F; 18:55275682-55275682

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.135T>C; p.F45F; 18:55585290-55585290

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.510_513delAAAG; p.K172fs*61; 18:55350395-55350398

 central_nervous_system; cerebellumprimitive_neuroectodermal_tumour-medulloblastoma; SHH_subtypeDeletion - Frameshift

c.532C>T; p.P178S; 18:55350376-55350376

 skinmalignant_melanomaSubstitution - Missense

c.510_513delAAAG; p.K172fs*61; 18:55350395-55350398

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastomaDeletion - Frameshift

c.958A>G; p.T320A; 18:55261498-55261498

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1602A>G; p.L534L; 18:55232556-55232556

 livercarcinomaSubstitution - coding silent

c.941C>T; p.A314V; 18:55261515-55261515

 breastcarcinomaSubstitution - Missense

c.1159G>A; p.E387K; 18:55254688-55254688

 skinmalignant_melanomaSubstitution - Missense

c.1637+2T>A; p.?; 18:55232519-55232519

 stomachcarcinoma; adenocarcinomaUnknown

c.1495C>T; p.P499S; 18:55232663-55232663

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1632T>G; p.I544M; 18:55232526-55232526

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.529C>T; p.P177S; 18:55350379-55350379

 skinmalignant_melanomaSubstitution - Missense

c.529C>T; p.P177S; 18:55350379-55350379

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1682G>T; p.R561L; 18:55229032-55229032

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.529C>T; p.P177S; 18:55350379-55350379

 skinmalignant_melanomaSubstitution - Missense

c.1147C>T; p.Q383*; 18:55254700-55254700

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Nonsense

c.1126G>A; p.E376K; 18:55257335-55257335

 skinmalignant_melanomaSubstitution - Missense

c.1836C>G; p.A612A; 18:55228878-55228878

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1201C>T; p.R401W; 18:55254646-55254646

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.899C>T; p.A300V; 18:55269854-55269854

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.611C>T; p.S204F; 18:55279595-55279595

 skinmalignant_melanomaSubstitution - Missense

c.1835C>A; p.A612D; 18:55228879-55228879

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1776G>T; p.Q592H; 18:55228938-55228938

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.830T>G; p.L277R; 18:55269923-55269923

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1812C>T; p.L604L; 18:55228902-55228902

 skinmalignant_melanomaSubstitution - coding silent

c.1717G>A; p.E573K; 18:55228997-55228997

 central_nervous_system; brainglioma; astrocytoma_Grade_IIISubstitution - Missense

c.1717G>A; p.E573K; 18:55228997-55228997

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; polycythaemia_veraSubstitution - Missense

c.1198C>A; p.L400I; 18:55254649-55254649

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1517T>A; p.V506D; 18:55232641-55232641

 haematopoietic_and_lymphoid_tissue; tonsillymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1219C>T; p.P407S; 18:55254628-55254628

 skinmalignant_melanomaSubstitution - Missense

c.469C>T; p.R157*; 18:55350904-55350904

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Nonsense

c.1112C>T; p.S371L; 18:55257349-55257349

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.692G>A; p.S231N; 18:55275716-55275716

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.1193A>G; p.H398R; 18:55254654-55254654

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1418C>A; p.P473Q; 18:55234616-55234616

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1578G>A; p.T526T; 18:55232580-55232580

 breastcarcinomaSubstitution - coding silent

c.1694G>A; p.R565Q; 18:55229020-55229020

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1726C>T; p.R576W; 18:55228988-55228988

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelofibrosisSubstitution - Missense

c.1578G>A; p.T526T; 18:55232580-55232580

 skinmalignant_melanomaSubstitution - coding silent

c.1544C>T; p.S515F; 18:55232614-55232614

 skinmalignant_melanomaSubstitution - Missense

c.277C>T; p.P93S; 18:55461046-55461046

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1717G>T; p.E573*; 18:55228997-55228997

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1165C>T; p.R389C; 18:55254682-55254682

 skinmalignant_melanomaSubstitution - Missense

c.1714C>T; p.R572*; 18:55229000-55229000

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Nonsense

c.1417C>T; p.P473S; 18:55234617-55234617

 skinmalignant_melanomaSubstitution - Missense

c.1714C>T; p.R572*; 18:55229000-55229000

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1278T>A; p.H426Q; 18:55254569-55254569

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

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