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

Basic Information

Gene ID

27330

Name

RPS6KA6

Synonymous

ribosomal protein S6 kinase, 90kDa, polypeptide 6;RPS6KA6;ribosomal protein S6 kinase, 90kDa, polypeptide 6

Definition

90 kDa ribosomal protein S6 kinase 6|RSK-4|S6K-alpha 6|S6K-alpha-6|p90-RSK 6|p90RSK6|ribosomal S6 kinase 4|ribosomal protein S6 kinase alpha-6

Position

Xq21

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 0.10.

The copy number variations for various cancers

Top

There is no record for RPS6KA6

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.1552C>T; p.R518W; 23:84104561-84104561

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.649T>G; p.F217V; 23:84120025-84120025

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1552C>T; p.R518W; 23:84104561-84104561

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.924C>T; p.F308F; 23:84117085-84117085

 breastcarcinomaSubstitution - coding silent

c.924C>T; p.F308F; 23:84117085-84117085

 skinmalignant_melanomaSubstitution - coding silent

c.356G>A; p.R119Q; 23:84147043-84147043

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.265C>T; p.L89F; 23:84148117-84148117

 skinmalignant_melanomaSubstitution - Missense

c.1962C>T; p.D654D; 23:84096203-84096203

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.992C>T; p.A331V; 23:84116245-84116245

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1523G>A; p.R508H; 23:84104590-84104590

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.772T>A; p.S258T; 23:84119902-84119902

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.772T>A; p.S258T; 23:84119902-84119902

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1950C>T; p.D650D; 23:84096215-84096215

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.772T>A; p.S258T; 23:84119902-84119902

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.772T>A; p.S258T; 23:84119902-84119902

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.470G>A; p.G157E; 23:84145509-84145509

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1950C>T; p.D650D; 23:84096215-84096215

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.125A>G; p.E42G; 23:84164344-84164344

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1005G>A; p.W335*; 23:84116232-84116232

 skinmalignant_melanomaSubstitution - Nonsense

c.2114G>A; p.G705E; 23:84064401-84064401

 skinmalignant_melanomaSubstitution - Missense

c.1125G>A; p.L375L; 23:84107027-84107027

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1084C>T; p.P362S; 23:84107650-84107650

 skinmalignant_melanomaSubstitution - Missense

c.620A>G; p.D207G; 23:84134808-84134808

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1985A>G; p.H662R; 23:84065098-84065098

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1418G>T; p.R473L; 23:84105824-84105824

 livercarcinomaSubstitution - Missense

c.384G>A; p.V128V; 23:84147015-84147015

 skinmalignant_melanomaSubstitution - coding silent

c.1985A>G; p.H662R; 23:84065098-84065098

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.414G>T; p.L138F; 23:84146985-84146985

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.833G>A; p.R278K; 23:84117411-84117411

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2200C>T; p.R734*; 23:84064315-84064315

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1101A>C; p.K367N; 23:84107633-84107633

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1301T>C; p.V434A; 23:84106429-84106429

 skinmalignant_melanomaSubstitution - Missense

c.332C>T; p.S111F; 23:84148050-84148050

 skin; earmalignant_melanomaSubstitution - Missense

c.1982C>T; p.S661F; 23:84065101-84065101

 skinmalignant_melanomaSubstitution - Missense

c.394C>T; p.H132Y; 23:84147005-84147005

 skinmalignant_melanomaSubstitution - Missense

c.1816T>C; p.W606R; 23:84097809-84097809

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.772T>C; p.S258P; 23:84119902-84119902

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.203C>A; p.A68E; 23:84156130-84156130

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.641T>A; p.L214*; 23:84134787-84134787

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.772T>C; p.S258P; 23:84119902-84119902

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1219G>A; p.A407T; 23:84106933-84106933

 livercarcinomaSubstitution - Missense

c.1219G>A; p.A407T; 23:84106933-84106933

 livercarcinomaSubstitution - Missense

c.772T>C; p.S258P; 23:84119902-84119902

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.442C>T; p.L148L; 23:84145537-84145537

 skinmalignant_melanomaSubstitution - coding silent

c.2044T>A; p.W682R; 23:84065039-84065039

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1050T>C; p.A350A; 23:84107684-84107684

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.1391C>A; p.P464H; 23:84105851-84105851

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1220C>T; p.A407V; 23:84106932-84106932

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1504G>T; p.G502*; 23:84104609-84104609

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.81G>T; p.E27D; 23:84187819-84187819

 biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - Missense

c.608+1G>T; p.?; 23:84135103-84135103

 lungcarcinoma; adenocarcinomaUnknown

c.743G>T; p.R248I; 23:84119931-84119931

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2233C>T; p.L745L; 23:84064282-84064282

 skinmalignant_melanomaSubstitution - coding silent

c.944G>A; p.R315K; 23:84117065-84117065

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2233C>T; p.L745L; 23:84064282-84064282

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1665A>T; p.S555S; 23:84102148-84102148

 oesophaguscarcinomaSubstitution - coding silent

c.1721G>A; p.G574E; 23:84102092-84102092

 skinmalignant_melanomaSubstitution - Missense

c.790-1delG; p.?; 23:84117455-84117455

 central_nervous_system; medullaprimitive_neuroectodermal_tumour-medulloblastoma; classicUnknown

c.1392T>C; p.P464P; 23:84105850-84105850

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1491G>A; p.T497T; 23:84104622-84104622

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1552C>G; p.R518G; 23:84104561-84104561

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1392T>C; p.P464P; 23:84105850-84105850

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1491G>A; p.T497T; 23:84104622-84104622

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.869T>A; p.L290H; 23:84117140-84117140

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1624C>T; p.R542C; 23:84102189-84102189

 skin; neckmalignant_melanomaSubstitution - Missense

c.431C>T; p.T144I; 23:84145548-84145548

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.2211G>A; p.M737I; 23:84064304-84064304

 skinmalignant_melanomaSubstitution - Missense

c.2211G>A; p.M737I; 23:84064304-84064304

 skinmalignant_melanomaSubstitution - Missense

c.2014T>C; p.Y672H; 23:84065069-84065069

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1102_1103insA; p.T368fs*3; 23:84107631-84107632

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.383T>A; p.V128E; 23:84147016-84147016

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.2161C>T; p.P721S; 23:84064354-84064354

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.468G>A; p.R156R; 23:84145511-84145511

 skinmalignant_melanomaSubstitution - coding silent

c.355C>T; p.R119W; 23:84147044-84147044

 breastcarcinomaSubstitution - Missense

c.418T>A; p.Y140N; 23:84146981-84146981

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.327_328insA; p.A110fs*36; 23:84148054-84148055

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.688G>A; p.A230T; 23:84119986-84119986

 skinmalignant_melanomaSubstitution - Missense

c.907C>A; p.L303I; 23:84117102-84117102

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.907C>A; p.L303I; 23:84117102-84117102

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1548G>A; p.S516S; 23:84104565-84104565

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1854-1G>A; p.?; 23:84096312-84096312

 stomachcarcinoma; adenocarcinomaUnknown

c.1103C>A; p.T368K; 23:84107631-84107631

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.441A>T; p.K147N; 23:84145538-84145538

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.324A>C; p.K108N; 23:84148058-84148058

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.194A>T; p.Y65F; 23:84156139-84156139

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.196G>A; p.E66K; 23:84156137-84156137

 breastcarcinomaSubstitution - Missense

c.590G>T; p.R197I; 23:84135122-84135122

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2197C>A; p.Q733K; 23:84064318-84064318

 breastcarcinomaSubstitution - Missense

c.1362G>A; p.V454V; 23:84106368-84106368

 skinmalignant_melanomaSubstitution - coding silent

c.502G>T; p.V168F; 23:84135210-84135210

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1972G>A; p.D658N; 23:84065111-84065111

 skinmalignant_melanomaSubstitution - Missense

c.1926C>T; p.F642F; 23:84096239-84096239

 skinmalignant_melanomaSubstitution - coding silent

c.1972G>A; p.D658N; 23:84065111-84065111

 skinmalignant_melanomaSubstitution - Missense

c.2121G>A; p.M707I; 23:84064394-84064394

 skinmalignant_melanomaSubstitution - Missense

c.367G>T; p.E123*; 23:84147032-84147032

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1181C>A; p.S394Y; 23:84106971-84106971

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1181C>A; p.S394Y; 23:84106971-84106971

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1181C>A; p.S394Y; 23:84106971-84106971

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2219G>A; p.R740Q; 23:84064296-84064296

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.501+10T>C; p.?; 23:84145468-84145468

 pancreascarcinomaUnknown

c.1324C>T; p.R442*; 23:84106406-84106406

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.2087G>T; p.R696I; 23:84064996-84064996

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1390C>T; p.P464S; 23:84105852-84105852

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1127C>T; p.P376L; 23:84107025-84107025

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.179A>G; p.H60R; 23:84156154-84156154

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1987A>G; p.M663V; 23:84065096-84065096

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.930G>T; p.R310S; 23:84117079-84117079

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1825G>T; p.G609*; 23:84097800-84097800

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.930G>T; p.R310S; 23:84117079-84117079

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1469G>T; p.G490V; 23:84104644-84104644

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.368A>G; p.E123G; 23:84147031-84147031

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1096G>A; p.A366T; 23:84107638-84107638

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.327delA; p.A110fs*3; 23:84148055-84148055

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1833T>C; p.L611L; 23:84097792-84097792

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.327delA; p.A110fs*3; 23:84148055-84148055

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.327delA; p.A110fs*3; 23:84148055-84148055

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.327delA; p.A110fs*3; 23:84148055-84148055

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.327delA; p.A110fs*3; 23:84148055-84148055

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.327delA; p.A110fs*3; 23:84148055-84148055

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.327delA; p.A110fs*3; 23:84148055-84148055

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1907G>T; p.R636L; 23:84096258-84096258

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.833G>T; p.R278I; 23:84117411-84117411

 stomachcarcinomaSubstitution - Missense

c.1181C>T; p.S394F; 23:84106971-84106971

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.166C>T; p.P56S; 23:84156167-84156167

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.1120G>A; p.G374S; 23:84107032-84107032

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1861C>T; p.P621S; 23:84096304-84096304

 skinmalignant_melanomaSubstitution - Missense

c.529T>G; p.F177V; 23:84135183-84135183

 endometriumcarcinoma; serous_carcinomaSubstitution - Missense

c.2002C>A; p.P668T; 23:84065081-84065081

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.333T>C; p.S111S; 23:84148049-84148049

 central_nervous_system; braingliomaSubstitution - coding silent

c.1229delT; p.L410fs*6; 23:84106923-84106923

 large_intestine; rectumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1366-1G>T; p.?; 23:84105877-84105877

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.1721G>T; p.G574V; 23:84102092-84102092

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1165A>G; p.S389G; 23:84106987-84106987

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.37C>G; p.R13G; 23:84187863-84187863

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1041C>G; p.F347L; 23:84107693-84107693

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2045G>T; p.W682L; 23:84065038-84065038

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1906C>T; p.R636C; 23:84096259-84096259

 NSNSSubstitution - Missense

c.2141T>C; p.L714P; 23:84064374-84064374

 central_nervous_system; braingliomaSubstitution - Missense

c.950G>A; p.G317E; 23:84116287-84116287

 skinmalignant_melanomaSubstitution - Missense

c.1652A>G; p.Y551C; 23:84102161-84102161

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1054G>A; p.G352R; 23:84107680-84107680

 skin; scalpmalignant_melanomaSubstitution - Missense

c.1882G>T; p.D628Y; 23:84096283-84096283

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.165C>T; p.I55I; 23:84156168-84156168

 skinmalignant_melanomaSubstitution - coding silent

c.1115C>A; p.S372Y; 23:84107037-84107037

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.254G>A; p.G85E; 23:84156079-84156079

 skin; trunkmalignant_melanoma; nodularSubstitution - Missense

c.990_991insT; p.A331fs*4; 23:84116246-84116247

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.115G>A; p.E39K; 23:84164354-84164354

 skinmalignant_melanomaSubstitution - Missense

c.1948G>T; p.D650Y; 23:84096217-84096217

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1339A>G; p.T447A; 23:84106391-84106391

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1472G>C; p.R491T; 23:84104641-84104641

 oesophaguscarcinomaSubstitution - Missense

c.2081C>A; p.P694Q; 23:84065002-84065002

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1342A>G; p.T448A; 23:84106388-84106388

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1735C>G; p.L579V; 23:84102078-84102078

 oesophaguscarcinomaSubstitution - Missense

c.979C>T; p.H327Y; 23:84116258-84116258

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.419A>G; p.Y140C; 23:84146980-84146980

 lungcarcinoma; large_cell_carcinomaSubstitution - Missense

c.419A>G; p.Y140C; 23:84146980-84146980

 lungcarcinoma; large_cell_carcinomaSubstitution - Missense

c.1328G>A; p.C443Y; 23:84106402-84106402

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.118G>T; p.E40*; 23:84164351-84164351

 ovaryother; neoplasmSubstitution - Nonsense

c.40G>A; p.E14K; 23:84187860-84187860

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.1502A>C; p.K501T; 23:84104611-84104611

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1923A>G; p.K641K; 23:84096242-84096242

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1465G>T; p.D489Y; 23:84104648-84104648

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1183A>G; p.I395V; 23:84106969-84106969

 breastcarcinomaSubstitution - Missense

c.68C>T; p.A23V; 23:84187832-84187832

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.1368C>T; p.I456I; 23:84105874-84105874

 skinmalignant_melanomaSubstitution - coding silent

c.1744C>T; p.P582S; 23:84102069-84102069

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1833T>A; p.L611L; 23:84097792-84097792

 breastcarcinomaSubstitution - coding silent

c.1798G>A; p.D600N; 23:84097827-84097827

 skinmalignant_melanomaSubstitution - Missense

c.798G>T; p.M266I; 23:84117446-84117446

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.121_122GG>AA; p.G41K; 23:84164347-84164348

 skinmalignant_melanomaSubstitution - Missense

c.1739T>A; p.L580*; 23:84102074-84102074

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1711C>A; p.Q571K; 23:84102102-84102102

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.929G>T; p.R310M; 23:84117080-84117080

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.130G>T; p.D44Y; 23:84164339-84164339

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2068C>T; p.P690S; 23:84065015-84065015

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.570C>T; p.H190H; 23:84135142-84135142

 skinmalignant_melanomaSubstitution - coding silent

c.771G>T; p.W257C; 23:84119903-84119903

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.141+3A>G; p.?; 23:84164325-84164325

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmUnknown

c.2112G>T; p.K704N; 23:84064971-84064971

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1926C>A; p.F642L; 23:84096239-84096239

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.438G>A; p.G146G; 23:84145541-84145541

 skinmalignant_melanomaSubstitution - coding silent

c.438G>A; p.G146G; 23:84145541-84145541

 skinmalignant_melanomaSubstitution - coding silent

c.438G>A; p.G146G; 23:84145541-84145541

 skinmalignant_melanomaSubstitution - coding silent

c.438G>A; p.G146G; 23:84145541-84145541

 skinmalignant_melanomaSubstitution - coding silent

c.1152C>G; p.L384L; 23:84107000-84107000

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.518A>G; p.E173G; 23:84135194-84135194

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1815C>A; p.I605I; 23:84097810-84097810

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2203C>T; p.R735W; 23:84064312-84064312

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1757C>A; p.A586E; 23:84102056-84102056

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1368C>A; p.I456I; 23:84105874-84105874

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.790-2A>T; p.?; 23:84117456-84117456

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.1085C>T; p.P362L; 23:84107649-84107649

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.325A>G; p.K109E; 23:84148057-84148057

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1003T>G; p.W335G; 23:84116234-84116234

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.340+1G>A; p.?; 23:84148041-84148041

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.398C>A; p.P133Q; 23:84147001-84147001

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1325G>A; p.R442Q; 23:84106405-84106405

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.779G>C; p.G260A; 23:84119895-84119895

 skinmalignant_melanomaSubstitution - Missense

c.662A>G; p.K221R; 23:84120012-84120012

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1831C>T; p.L611F; 23:84097794-84097794

 skinmalignant_melanomaSubstitution - Missense

c.837T>A; p.N279K; 23:84117407-84117407

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.837T>A; p.N279K; 23:84117407-84117407

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1299T>C; p.G433G; 23:84106431-84106431

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1777-2A>G; p.?; 23:84097850-84097850

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.480T>G; p.V160V; 23:84145499-84145499

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1076G>C; p.C359S; 23:84107658-84107658

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.855A>T; p.I285I; 23:84117389-84117389

 lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.644C>T; p.T215I; 23:84134784-84134784

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.695C>T; p.S232L; 23:84119979-84119979

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.684G>T; p.K228N; 23:84119990-84119990

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1908T>C; p.R636R; 23:84096257-84096257

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.629G>T; p.G210V; 23:84134799-84134799

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1048G>T; p.A350S; 23:84107686-84107686

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1808G>A; p.C603Y; 23:84097817-84097817

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.66C>T; p.G22G; 23:84187834-84187834

 livercarcinomaSubstitution - coding silent

c.1417C>T; p.R473C; 23:84105825-84105825

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.66C>T; p.G22G; 23:84187834-84187834

 livercarcinomaSubstitution - coding silent

c.2064G>C; p.Q688H; 23:84065019-84065019

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1513T>C; p.L505L; 23:84104600-84104600

 skinmalignant_melanomaSubstitution - coding silent

c.156T>A; p.V52V; 23:84156177-84156177

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.686A>C; p.K229T; 23:84119988-84119988

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.352G>T; p.V118F; 23:84147047-84147047

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.298C>A; p.Q100K; 23:84148084-84148084

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.869T>C; p.L290P; 23:84117140-84117140

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

')