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

Basic Information

Gene ID

140690

Name

CTCFL

Synonymous

CCCTC-binding factor (zinc finger protein)-like;CTCFL;CCCTC-binding factor (zinc finger protein)-like

Definition

BORIS-like protein|CTCF paralog|CTCF-like protein|HMG-1L1|brother of the regulator of imprinted sites|cancer/testis antigen 27|putative high mobility group protein 1-like 1|putative high mobility group protein B1-like 1|transcriptional repressor CTCFL|zin

Position

20q13.31

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 0.15.

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.1570C>T; p.R524*; 20:57508710-57508710

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.121C>A; p.H41N; 20:57524085-57524085

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1800G>A; p.K600K; 20:57503476-57503476

skinmalignant_melanomaSubstitution - coding silent

c.1472G>A; p.C491Y; 20:57512611-57512611

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1054G>T; p.V352L; 20:57518763-57518763

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1069T>C; p.L357L; 20:57515825-57515825

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.942G>A; p.K314K; 20:57518875-57518875

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.671T>A; p.V224E; 20:57523151-57523151

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.97G>T; p.D33Y; 20:57524109-57524109

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.822T>C; p.R274R; 20:57519310-57519310

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.822T>C; p.R274R; 20:57519310-57519310

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.764G>A; p.G255E; 20:57519368-57519368

skinmalignant_melanomaSubstitution - Missense

c.1316G>A; p.R439Q; 20:57514606-57514606

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.706G>A; p.A236T; 20:57523116-57523116

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.135T>G; p.S45R; 20:57524071-57524071

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.949G>A; p.D317N; 20:57518868-57518868

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.949G>A; p.D317N; 20:57518868-57518868

skin; backmalignant_melanomaSubstitution - Missense

c.949G>A; p.D317N; 20:57518868-57518868

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.640G>A; p.E214K; 20:57523182-57523182

skinmalignant_melanomaSubstitution - Missense

c.1344C>G; p.R448R; 20:57512739-57512739

breastcarcinomaSubstitution - coding silent

c.1084C>A; p.R362R; 20:57515810-57515810

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.219G>T; p.E73D; 20:57523987-57523987

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.322G>A; p.V108M; 20:57523884-57523884

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1835G>A; p.G612E; 20:57503441-57503441

skinmalignant_melanomaSubstitution - Missense

c.1097G>A; p.G366E; 20:57515797-57515797

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.916A>G; p.T306A; 20:57519216-57519216

NSNSSubstitution - Missense

c.988C>T; p.R330*; 20:57518829-57518829

urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.335T>A; p.V112E; 20:57523871-57523871

breastcarcinomaSubstitution - Missense

c.1304C>T; p.T435I; 20:57514618-57514618

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1516C>T; p.R506C; 20:57508764-57508764

skinmalignant_melanomaSubstitution - Missense

c.1871A>T; p.K624M; 20:57498671-57498671

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1267G>A; p.E423K; 20:57514655-57514655

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1267G>A; p.E423K; 20:57514655-57514655

skinmalignant_melanomaSubstitution - Missense

c.1267G>A; p.E423K; 20:57514655-57514655

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1267G>A; p.E423K; 20:57514655-57514655

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1143T>G; p.D381E; 20:57515751-57515751

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.145G>T; p.A49S; 20:57524061-57524061

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1533G>C; p.E511D; 20:57508747-57508747

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1339A>G; p.M447V; 20:57512744-57512744

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1071G>C; p.L357F; 20:57515823-57515823

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1343G>A; p.R448H; 20:57512740-57512740

ovaryother; neoplasmSubstitution - Missense

c.1313C>T; p.A438V; 20:57514609-57514609

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.69G>A; p.P23P; 20:57524137-57524137

prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.873G>A; p.L291L; 20:57519259-57519259

skinmalignant_melanomaSubstitution - coding silent

c.1936G>C; p.E646Q; 20:57498606-57498606

breastcarcinomaSubstitution - Missense

c.1936G>C; p.E646Q; 20:57498606-57498606

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.564G>A; p.K188K; 20:57523258-57523258

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.998G>A; p.R333H; 20:57518819-57518819

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.738_739insA; p.Q247fs*14; 20:57523083-57523084

stomachcarcinoma; intestinal_adenocarcinomaInsertion - Frameshift

c.300G>A; p.L100L; 20:57523906-57523906

cervixcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.216G>C; p.S72S; 20:57523990-57523990

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1723T>C; p.S575P; 20:57503553-57503553

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1237A>G; p.M413V; 20:57514685-57514685

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.646G>C; p.V216L; 20:57523176-57523176

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1573C>G; p.Q525E; 20:57508707-57508707

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.75delA; p.G26fs*2; 20:57524131-57524131

large_intestine; rectumcarcinoma; adenocarcinomaDeletion - Frameshift

c.75delA; p.G26fs*2; 20:57524131-57524131

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.75delA; p.G26fs*2; 20:57524131-57524131

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourDeletion - Frameshift

c.96delA; p.D33fs*48; 20:57524110-57524110

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.173A>G; p.D58G; 20:57524033-57524033

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.173A>G; p.D58G; 20:57524033-57524033

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1805C>T; p.A602V; 20:57503471-57503471

biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - Missense

c.1612G>A; p.D538N; 20:57508668-57508668

skinmalignant_melanomaSubstitution - Missense

c.1113G>C; p.Q371H; 20:57515781-57515781

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.173A>G; p.D58G; 20:57524033-57524033

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1144A>C; p.T382P; 20:57515750-57515750

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.320_332del13; p.V108fs*45; 20:57523874-57523886

kidneycarcinoma; renal_cell_carcinomaDeletion - Frameshift

c.403G>A; p.A135T; 20:57523803-57523803

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1972C>A; p.L658I; 20:57498570-57498570

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.251C>T; p.T84M; 20:57523955-57523955

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.227A>T; p.E76V; 20:57523979-57523979

breastcarcinomaSubstitution - Missense

c.139T>C; p.L47L; 20:57524067-57524067

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.212C>T; p.P71L; 20:57523994-57523994

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.174C>A; p.D58E; 20:57524032-57524032

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.169C>T; p.Q57*; 20:57524037-57524037

large_intestine; coloncarcinomaSubstitution - Nonsense

c.169C>T; p.Q57*; 20:57524037-57524037

large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.152G>A; p.R51H; 20:57524054-57524054

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.415C>A; p.Q139K; 20:57523791-57523791

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1840G>A; p.E614K; 20:57503436-57503436

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1840G>A; p.E614K; 20:57503436-57503436

skin; mucosalmalignant_melanomaSubstitution - Missense

c.1247A>G; p.H416R; 20:57514675-57514675

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1124G>A; p.C375Y; 20:57515770-57515770

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1034C>T; p.S345F; 20:57518783-57518783

endometriumcarcinoma; serous_carcinomaSubstitution - Missense

c.1628C>T; p.P543L; 20:57508652-57508652

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1359C>A; p.Y453*; 20:57512724-57512724

lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.725A>C; p.K242T; 20:57523097-57523097

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.93A>T; p.E31D; 20:57524113-57524113

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1173G>A; p.T391T; 20:57515721-57515721

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.820C>T; p.R274C; 20:57519312-57519312

skinmalignant_melanomaSubstitution - Missense

c.820C>T; p.R274C; 20:57519312-57519312

skinmalignant_melanomaSubstitution - Missense

c.1173G>A; p.T391T; 20:57515721-57515721

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.767C>T; p.T256I; 20:57519365-57519365

skinmalignant_melanomaSubstitution - Missense

c.692C>T; p.P231L; 20:57523130-57523130

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1676T>A; p.I559N; 20:57503600-57503600

skinmalignant_melanomaSubstitution - Missense

c.1529G>C; p.G510A; 20:57508751-57508751

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.148G>A; p.E50K; 20:57524058-57524058

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1959C>A; p.T653T; 20:57498583-57498583

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1953C>T; p.G651G; 20:57498589-57498589

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1542C>T; p.F514F; 20:57508738-57508738

skinmalignant_melanomaSubstitution - coding silent

c.1840G>T; p.E614*; 20:57503436-57503436

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1141G>C; p.D381H; 20:57515753-57515753

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1758G>A; p.K586K; 20:57503518-57503518

skinmalignant_melanomaSubstitution - coding silent

c.529A>G; p.T177A; 20:57523677-57523677

thyroidother; neoplasmSubstitution - Missense

c.40A>G; p.T14A; 20:57524166-57524166

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.901C>T; p.R301W; 20:57519231-57519231

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.901C>T; p.R301W; 20:57519231-57519231

breastcarcinomaSubstitution - Missense

c.1408C>T; p.R470C; 20:57512675-57512675

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.140T>G; p.L47W; 20:57524066-57524066

skinmalignant_melanomaSubstitution - Missense

c.168C>T; p.F56F; 20:57524038-57524038

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1408C>T; p.R470C; 20:57512675-57512675

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.754+1G>A; p.?; 20:57523067-57523067

stomachcarcinoma; adenocarcinomaUnknown

c.762A>C; p.K254N; 20:57519370-57519370

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1772T>C; p.I591T; 20:57503504-57503504

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.379C>T; p.R127W; 20:57523827-57523827

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1409G>C; p.R470P; 20:57512674-57512674

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.525A>T; p.E175D; 20:57523681-57523681

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1694C>T; p.S565L; 20:57503582-57503582

skinmalignant_melanomaSubstitution - Missense

c.1792G>A; p.G598S; 20:57503484-57503484

skinmalignant_melanomaSubstitution - Missense

c.1822G>A; p.E608K; 20:57503454-57503454

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.397T>C; p.C133R; 20:57523809-57523809

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1822G>A; p.E608K; 20:57503454-57503454

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.81G>A; p.L27L; 20:57524125-57524125

breastcarcinomaSubstitution - coding silent

c.1075C>T; p.R359C; 20:57515819-57515819

oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1323C>T; p.S441S; 20:57514599-57514599

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1015G>A; p.E339K; 20:57518802-57518802

skinmalignant_melanomaSubstitution - Missense

c.569A>C; p.Q190P; 20:57523253-57523253

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1216C>T; p.R406C; 20:57514706-57514706

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.697G>A; p.A233T; 20:57523125-57523125

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1479T>A; p.Y493*; 20:57512604-57512604

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.763G>T; p.G255*; 20:57519369-57519369

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1216C>T; p.R406C; 20:57514706-57514706

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.310C>T; p.Q104*; 20:57523896-57523896

lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1230C>T; p.S410S; 20:57514692-57514692

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1230C>T; p.S410S; 20:57514692-57514692

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1833C>T; p.N611N; 20:57503443-57503443

oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1230C>T; p.S410S; 20:57514692-57514692

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.266C>T; p.S89F; 20:57523940-57523940

skinmalignant_melanomaSubstitution - Missense

c.728C>G; p.S243C; 20:57523094-57523094

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.52G>T; p.E18*; 20:57524154-57524154

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1263C>T; p.H421H; 20:57514659-57514659

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.320G>T; p.G107V; 20:57523886-57523886

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.888G>A; p.T296T; 20:57519244-57519244

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.990A>T; p.R330R; 20:57518827-57518827

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1329A>G; p.L443L; 20:57514593-57514593

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1227G>C; p.Q409H; 20:57514695-57514695

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.642A>C; p.E214D; 20:57523180-57523180

livercarcinomaSubstitution - Missense

c.1706G>A; p.G569E; 20:57503570-57503570

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.357G>T; p.L119F; 20:57523849-57523849

breastcarcinomaSubstitution - Missense

c.1076G>A; p.R359H; 20:57515818-57515818

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1143T>C; p.D381D; 20:57515751-57515751

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.148G>C; p.E50Q; 20:57524058-57524058

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.148G>C; p.E50Q; 20:57524058-57524058

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.83A>G; p.K28R; 20:57524123-57524123

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.178G>A; p.V60I; 20:57524028-57524028

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.178G>A; p.V60I; 20:57524028-57524028

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.690delA; p.Q230fs*47; 20:57523132-57523132

bone; iliumEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourDeletion - Frameshift

c.67C>T; p.P23S; 20:57524139-57524139

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.225C>T; p.S75S; 20:57523981-57523981

prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.67C>T; p.P23S; 20:57524139-57524139

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.789G>A; p.M263I; 20:57519343-57519343

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1495C>T; p.R499C; 20:57508785-57508785

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1405G>A; p.E469K; 20:57512678-57512678

skinmalignant_melanomaSubstitution - Missense

c.1830G>A; p.A610A; 20:57503446-57503446

skinmalignant_melanomaSubstitution - coding silent

c.592G>A; p.E198K; 20:57523230-57523230

skin; extremitymalignant_melanomaSubstitution - Missense

c.755G>A; p.G252E; 20:57519377-57519377

skinmalignant_melanomaSubstitution - Missense

c.384G>A; p.Q128Q; 20:57523822-57523822

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1828G>A; p.A610T; 20:57503448-57503448

central_nervous_system; braingliomaSubstitution - Missense

c.391C>A; p.Q131K; 20:57523815-57523815

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.31G>T; p.E11*; 20:57524175-57524175

lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.319G>A; p.G107R; 20:57523887-57523887

breastcarcinomaSubstitution - Missense

c.1517G>A; p.R506H; 20:57508763-57508763

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.984C>A; p.L328L; 20:57518833-57518833

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.112G>C; p.E38Q; 20:57524094-57524094

cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.690A>G; p.Q230Q; 20:57523132-57523132

skinmalignant_melanomaSubstitution - coding silent

c.1317G>C; p.R439R; 20:57514605-57514605

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1180G>T; p.G394C; 20:57515714-57515714

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1084C>T; p.R362*; 20:57515810-57515810

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1084C>T; p.R362*; 20:57515810-57515810

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1627C>T; p.P543S; 20:57508653-57508653

skinmalignant_melanomaSubstitution - Missense

c.1618A>G; p.N540D; 20:57508662-57508662

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1084C>T; p.R362*; 20:57515810-57515810

skinmalignant_melanomaSubstitution - Nonsense

c.600C>A; p.L200L; 20:57523222-57523222

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1103G>A; p.R368H; 20:57515791-57515791

livercarcinomaSubstitution - Missense

c.1103G>A; p.R368H; 20:57515791-57515791

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.855C>T; p.H285H; 20:57519277-57519277

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.344_345delCT; p.P115fs*8; 20:57523861-57523862

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.215C>T; p.S72L; 20:57523991-57523991

stomachcarcinoma; adenocarcinomaSubstitution - Missense


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