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

Basic Information

Gene ID

10277

Name

UBE4B

Synonymous

ubiquitination factor E4B;UBE4B;ubiquitination factor E4B

Definition

UFD2A-III/UBE4B-III splice isoform|homologous to yeast UFD2|homozygously deleted in neuroblastoma 1|homozygously deleted in neuroblastoma-1|ubiquitin conjugation factor E4 B|ubiquitin fusion degradation protein 2|ubiquitin-fusion degradation protein 2|ubi

Position

1p36.3

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 0.17.

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.2374A>G; p.N792D; 1:10151396-10151396

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.499C>A; p.R167S; 1:10103011-10103011

 breastcarcinomaSubstitution - Missense

c.934_935insA; p.A315fs*52; 1:10117583-10117584

 breastcarcinomaInsertion - Frameshift

c.1122G>T; p.Q374H; 1:10122031-10122031

 kidneyother; neoplasmSubstitution - Missense

c.3192A>T; p.A1064A; 1:10178697-10178697

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.3330C>G; p.T1110T; 1:10179432-10179432

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.3324G>T; p.M1108I; 1:10179426-10179426

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1518C>T; p.L506L; 1:10130807-10130807

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1377C>G; p.L459L; 1:10130568-10130568

 breastcarcinomaSubstitution - coding silent

c.1451C>G; p.S484*; 1:10130740-10130740

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.799T>C; p.S267P; 1:10105734-10105734

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.3291C>T; p.S1097S; 1:10178796-10178796

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.3080C>T; p.T1027M; 1:10171271-10171271

 thyroidcarcinoma; anaplastic_carcinomaSubstitution - Missense

c.994C>T; p.R332C; 1:10119555-10119555

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.129G>A; p.A43A; 1:10072132-10072132

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2539G>A; p.D847N; 1:10151561-10151561

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1740G>A; p.T580T; 1:10135089-10135089

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1716C>T; p.I572I; 1:10135065-10135065

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1610A>T; p.N537I; 1:10132454-10132454

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1740G>A; p.T580T; 1:10135089-10135089

 NSNSSubstitution - coding silent

c.2960G>A; p.R987Q; 1:10171151-10171151

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3501G>A; p.E1167E; 1:10179935-10179935

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2184_2185CC>TT; p.(=); 1:10147070-10147071

 skinmalignant_melanomaUnknown

c.2184_2185CC>TT; p.(=); 1:10147070-10147071

 skinmalignant_melanomaUnknown

c.2290delT; p.F765fs*19; 1:10149269-10149269

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.3109C>T; p.R1037W; 1:10171300-10171300

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.407G>A; p.R136Q; 1:10101167-10101167

 breastcarcinomaSubstitution - Missense

c.407G>A; p.R136Q; 1:10101167-10101167

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.203G>A; p.G68D; 1:10072206-10072206

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.481C>T; p.L161L; 1:10102993-10102993

 livercarcinomaSubstitution - coding silent

c.1136C>T; p.T379I; 1:10122045-10122045

 skinmalignant_melanomaSubstitution - Missense

c.762C>G; p.S254R; 1:10105697-10105697

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.481C>T; p.L161L; 1:10102993-10102993

 livercarcinomaSubstitution - coding silent

c.2987T>A; p.L996H; 1:10171178-10171178

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3114C>T; p.F1038F; 1:10171305-10171305

 skinmalignant_melanomaSubstitution - coding silent

c.809+2T>C; p.?; 1:10105746-10105746

 livercarcinomaUnknown

c.2416G>A; p.V806I; 1:10151438-10151438

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.2318C>T; p.A773V; 1:10151340-10151340

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1546C>A; p.H516N; 1:10132390-10132390

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1587C>A; p.L529L; 1:10132431-10132431

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1587C>A; p.L529L; 1:10132431-10132431

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - coding silent

c.2040C>T; p.H680H; 1:10145003-10145003

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2777T>C; p.M926T; 1:10161252-10161252

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2265T>C; p.Y755Y; 1:10149244-10149244

 thyroidcarcinomaSubstitution - coding silent

c.1964G>T; p.R655L; 1:10137193-10137193

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.1683_1684CC>TT; p.L562F; 1:10135032-10135033

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2874C>T; p.L958L; 1:10168198-10168198

 ovaryother; neoplasmSubstitution - coding silent

c.406C>T; p.R136*; 1:10101166-10101166

 skinmalignant_melanomaSubstitution - Nonsense

c.2974C>T; p.L992L; 1:10171165-10171165

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1606G>A; p.V536I; 1:10132450-10132450

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1455G>A; p.G485G; 1:10130744-10130744

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1566C>T; p.G522G; 1:10132410-10132410

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1976G>T; p.R659I; 1:10137205-10137205

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2007C>A; p.S669R; 1:10144970-10144970

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1362G>A; p.R454R; 1:10130553-10130553

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1340C>T; p.S447F; 1:10130531-10130531

 skinmalignant_melanomaSubstitution - Missense

c.3115G>A; p.A1039T; 1:10171306-10171306

 breastcarcinomaSubstitution - Missense

c.1236T>C; p.F412F; 1:10126862-10126862

 breastcarcinomaSubstitution - coding silent

c.1566C>G; p.G522G; 1:10132410-10132410

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1566C>G; p.G522G; 1:10132410-10132410

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.523A>T; p.R175*; 1:10103035-10103035

 biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - Nonsense

c.919C>A; p.R307R; 1:10117568-10117568

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.197C>T; p.P66L; 1:10072200-10072200

 skin; abdomenmalignant_melanomaSubstitution - Missense

c.2540-1G>C; p.?; 1:10158355-10158355

 large_intestinecarcinoma; adenocarcinomaUnknown

c.130G>A; p.A44T; 1:10072133-10072133

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.285G>A; p.T95T; 1:10095534-10095534

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.285G>A; p.T95T; 1:10095534-10095534

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.285G>A; p.T95T; 1:10095534-10095534

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.1334C>T; p.P445L; 1:10130525-10130525

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.111T>C; p.P37P; 1:10072114-10072114

 breastcarcinomaSubstitution - coding silent

c.1768A>G; p.T590A; 1:10135117-10135117

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2044G>A; p.E682K; 1:10145007-10145007

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1248C>G; p.L416L; 1:10126874-10126874

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.2553C>T; p.T851T; 1:10158369-10158369

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2121C>T; p.D707D; 1:10147007-10147007

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2247A>T; p.A749A; 1:10149226-10149226

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.267C>T; p.P89P; 1:10095516-10095516

 skinmalignant_melanomaSubstitution - coding silent

c.68C>G; p.S23C; 1:10072071-10072071

 oesophaguscarcinomaSubstitution - Missense

c.1316C>A; p.S439Y; 1:10130507-10130507

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2466_2467insT; p.E825fs*1; 1:10151488-10151489

 large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.3377G>A; p.R1126H; 1:10179479-10179479

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1264C>T; p.L422F; 1:10129404-10129404

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2272G>C; p.D758H; 1:10149251-10149251

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2731G>A; p.E911K; 1:10161206-10161206

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3376C>T; p.R1126C; 1:10179478-10179478

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3055C>T; p.P1019S; 1:10171246-10171246

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.3209T>C; p.I1070T; 1:10178714-10178714

 lung; middle_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.664T>C; p.F222L; 1:10105599-10105599

 pancreascarcinomaSubstitution - Missense

c.3434C>T; p.T1145M; 1:10179536-10179536

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3434C>T; p.T1145M; 1:10179536-10179536

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.3488C>T; p.A1163V; 1:10179922-10179922

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1683C>T; p.F561F; 1:10135032-10135032

 skinmalignant_melanomaSubstitution - coding silent

c.2056C>T; p.R686C; 1:10145019-10145019

 breastcarcinomaSubstitution - Missense

c.2151T>G; p.F717L; 1:10147037-10147037

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2607C>T; p.T869T; 1:10158423-10158423

 skinmalignant_melanomaSubstitution - coding silent

c.2469T>G; p.F823L; 1:10151491-10151491

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.415A>C; p.K139Q; 1:10101175-10101175

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1322G>A; p.R441Q; 1:10130513-10130513

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2674A>G; p.K892E; 1:10161149-10161149

 breastcarcinomaSubstitution - Missense

c.318G>A; p.M106I; 1:10095567-10095567

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.340G>T; p.E114*; 1:10095589-10095589

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1854A>G; p.P618P; 1:10137083-10137083

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2805G>T; p.L935F; 1:10161280-10161280

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2752C>T; p.R918*; 1:10161227-10161227

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; follicular_lymphomaSubstitution - Nonsense

c.2752C>T; p.R918*; 1:10161227-10161227

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.444C>A; p.S148S; 1:10102956-10102956

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2472T>G; p.F824L; 1:10151494-10151494

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.529G>A; p.V177I; 1:10103041-10103041

 livercarcinomaSubstitution - Missense

c.529G>A; p.V177I; 1:10103041-10103041

 livercarcinomaSubstitution - Missense

c.743G>A; p.G248D; 1:10105678-10105678

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1928G>T; p.S643I; 1:10137157-10137157

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1414G>A; p.A472T; 1:10130605-10130605

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1323G>C; p.R441R; 1:10130514-10130514

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.56G>T; p.G19V; 1:10072059-10072059

 livercarcinomaSubstitution - Missense

c.1040T>C; p.L347P; 1:10119601-10119601

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.449G>T; p.G150V; 1:10102961-10102961

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.569A>G; p.N190S; 1:10103081-10103081

 breastcarcinomaSubstitution - Missense

c.2519C>T; p.S840F; 1:10151541-10151541

 skinmalignant_melanomaSubstitution - Missense

c.3055C>G; p.P1019A; 1:10171246-10171246

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2536A>G; p.T846A; 1:10151558-10151558

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3081G>A; p.T1027T; 1:10171272-10171272

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.2608A>G; p.I870V; 1:10158424-10158424

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1217C>T; p.S406F; 1:10126843-10126843

 skinmalignant_melanomaSubstitution - Missense

c.718G>C; p.D240H; 1:10105653-10105653

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.84A>T; p.P28P; 1:10072087-10072087

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2923G>T; p.V975F; 1:10168247-10168247

 breastcarcinomaSubstitution - Missense

c.504C>T; p.V168V; 1:10103016-10103016

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2809C>T; p.R937W; 1:10161284-10161284

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1671T>A; p.F557L; 1:10135020-10135020

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.34A>T; p.R12W; 1:10072037-10072037

 pancreascarcinomaSubstitution - Missense

c.1036T>C; p.S346P; 1:10119597-10119597

 pancreascarcinomaSubstitution - Missense

c.3195G>C; p.G1065G; 1:10178700-10178700

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.629_630insA; p.M211fs*9; 1:10105564-10105565

 peritoneum; appendixother; pseudomyxoma_peritoneiInsertion - Frameshift

c.915C>T; p.F305F; 1:10117564-10117564

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2194G>A; p.A732T; 1:10147080-10147080

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2194G>A; p.A732T; 1:10147080-10147080

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2194G>A; p.A732T; 1:10147080-10147080

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.3143C>T; p.S1048F; 1:10178648-10178648

 skin; head_neckmalignant_melanoma; superficial_spreadingSubstitution - Missense

c.2193C>A; p.P731P; 1:10147079-10147079

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.1788G>A; p.T596T; 1:10135137-10135137

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.577G>T; p.E193*; 1:10103089-10103089

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1489_1490insT; p.S497fs*17; 1:10130778-10130779

 skinmalignant_melanomaInsertion - Frameshift

c.3230T>G; p.L1077R; 1:10178735-10178735

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.577G>T; p.E193*; 1:10103089-10103089

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.3238G>A; p.E1080K; 1:10178743-10178743

 skinmalignant_melanomaSubstitution - Missense

c.3447C>T; p.S1149S; 1:10179549-10179549

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2225C>A; p.S742*; 1:10149204-10149204

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.2168A>T; p.Q723L; 1:10147054-10147054

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3142T>A; p.S1048T; 1:10178647-10178647

 pancreascarcinomaSubstitution - Missense

c.2023C>T; p.P675S; 1:10144986-10144986

 skinmalignant_melanomaSubstitution - Missense

c.2851G>A; p.E951K; 1:10168175-10168175

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.696T>C; p.I232I; 1:10105631-10105631

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.3273C>T; p.R1091R; 1:10178778-10178778

 soft_tissue; blood_vesselangiosarcomaSubstitution - coding silent

c.3429G>A; p.R1143R; 1:10179531-10179531

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - coding silent

c.935A>G; p.E312G; 1:10117584-10117584

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.3274G>T; p.A1092S; 1:10178779-10178779

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.128C>T; p.A43V; 1:10072131-10072131

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1112G>A; p.G371D; 1:10122021-10122021

 central_nervous_system; braingliomaSubstitution - Missense

c.3324G>A; p.M1108I; 1:10179426-10179426

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1326G>C; p.L442F; 1:10130517-10130517

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.3397C>T; p.L1133L; 1:10179499-10179499

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2878C>T; p.L960L; 1:10168202-10168202

 skinmalignant_melanomaSubstitution - coding silent

c.2959C>T; p.R987*; 1:10171150-10171150

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.491A>C; p.K164T; 1:10103003-10103003

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.461C>G; p.S154C; 1:10102973-10102973

 breastcarcinomaSubstitution - Missense

c.2111G>A; p.G704D; 1:10146997-10146997

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.766A>G; p.M256V; 1:10105701-10105701

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.53C>G; p.A18G; 1:10072056-10072056

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1750C>T; p.H584Y; 1:10135099-10135099

 skinmalignant_melanomaSubstitution - Missense

c.2516C>T; p.P839L; 1:10151538-10151538

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3519C>G; p.H1173Q; 1:10179953-10179953

 skinmalignant_melanomaSubstitution - Missense

c.1936C>T; p.R646C; 1:10137165-10137165

 skinmalignant_melanomaSubstitution - Missense

c.3513C>T; p.S1171S; 1:10179947-10179947

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.80C>G; p.T27S; 1:10072083-10072083

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.591T>G; p.D197E; 1:10105526-10105526

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.3224T>G; p.F1075C; 1:10178729-10178729

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.935delA; p.A315fs*14; 1:10117584-10117584

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.935delA; p.A315fs*14; 1:10117584-10117584

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.3224T>G; p.F1075C; 1:10178729-10178729

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.726_727delTC; p.L244fs*26; 1:10105661-10105662

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.935delA; p.A315fs*14; 1:10117584-10117584

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1674G>T; p.M558I; 1:10135023-10135023

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1206C>G; p.A402A; 1:10126832-10126832

 NSNSSubstitution - coding silent

c.2565T>C; p.S855S; 1:10158381-10158381

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1436T>C; p.V479A; 1:10130725-10130725

 skinmalignant_melanomaSubstitution - Missense

c.2122G>T; p.E708*; 1:10147008-10147008

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2961_2962insT; p.L988fs*8; 1:10171152-10171153

 large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.3407C>T; p.S1136F; 1:10179509-10179509

 skin; earcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3032A>C; p.N1011T; 1:10171223-10171223

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2875G>T; p.A959S; 1:10168199-10168199

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1946G>A; p.R649H; 1:10137175-10137175

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2567_2568insG; p.F857fs*3; 1:10158383-10158384

 livercarcinoma; hepatocellular_carcinomaInsertion - Frameshift

c.1946G>A; p.R649H; 1:10137175-10137175

 breastcarcinomaSubstitution - Missense

c.784T>A; p.S262T; 1:10105719-10105719

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2714C>T; p.T905M; 1:10161189-10161189

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2461C>T; p.Q821*; 1:10151483-10151483

 ovarycarcinomaSubstitution - Nonsense

c.906C>T; p.I302I; 1:10117555-10117555

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2548C>T; p.H850Y; 1:10158364-10158364

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.3246G>T; p.V1082V; 1:10178751-10178751

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1605C>T; p.V535V; 1:10132449-10132449

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2845C>T; p.Q949*; 1:10168169-10168169

 skinmalignant_melanomaSubstitution - Nonsense

c.2057G>T; p.R686L; 1:10145020-10145020

 livercarcinomaSubstitution - Missense

c.2057G>T; p.R686L; 1:10145020-10145020

 livercarcinomaSubstitution - Missense

c.1889T>G; p.F630C; 1:10137118-10137118

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.3374A>T; p.D1125V; 1:10179476-10179476

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1933C>T; p.R645C; 1:10137162-10137162

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1933C>T; p.R645C; 1:10137162-10137162

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2180G>A; p.R727H; 1:10147066-10147066

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1222G>A; p.D408N; 1:10126848-10126848

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.264G>A; p.S88S; 1:10095513-10095513

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1842C>T; p.G614G; 1:10137071-10137071

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.847T>C; p.Y283H; 1:10117496-10117496

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.847T>C; p.Y283H; 1:10117496-10117496

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1916C>T; p.S639F; 1:10137145-10137145

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2745T>C; p.S915S; 1:10161220-10161220

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.456A>T; p.E152D; 1:10102968-10102968

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.580+2T>C; p.?; 1:10103094-10103094

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.1949G>C; p.R650T; 1:10137178-10137178

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.224G>A; p.R75Q; 1:10095473-10095473

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.31C>T; p.R11W; 1:10072034-10072034

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.31C>T; p.R11W; 1:10072034-10072034

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.224G>A; p.R75Q; 1:10095473-10095473

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1873C>T; p.P625S; 1:10137102-10137102

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

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