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

Basic Information

Gene ID

3428

Name

IFI16

Synonymous

interferon, gamma-inducible protein 16;IFI16;interferon, gamma-inducible protein 16

Definition

gamma-interferon-inducible protein 16|interferon-gamma induced protein IFI 16|interferon-inducible myeloid differentiation transcriptional activator

Position

1q22

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 0.13.

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.1190A>G; p.N397S; 1:159032552-159032552

breastcarcinomaSubstitution - Missense

c.1838C>T; p.A613V; 1:159052019-159052019

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.878A>C; p.K293T; 1:159018557-159018557

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1725C>G; p.A575A; 1:159051906-159051906

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.387_388insA; p.S132fs*12; 1:159016538-159016539

central_nervous_system; brainstemglioma; astrocytoma_Grade_IVInsertion - Frameshift

c.1675G>A; p.V559I; 1:159051856-159051856

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.661C>G; p.P221A; 1:159018340-159018340

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.247delA; p.E85fs*3; 1:159014927-159014927

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1435G>A; p.E479K; 1:159045402-159045402

skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1600G>T; p.V534L; 1:159051781-159051781

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1843G>A; p.V615I; 1:159052024-159052024

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1449C>A; p.H483Q; 1:159045416-159045416

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.590G>A; p.R197K; 1:159018269-159018269

biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.1225C>A; p.R409S; 1:159032587-159032587

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.394T>C; p.S132P; 1:159016545-159016545

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.919C>G; p.L307V; 1:159018598-159018598

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.92A>C; p.N31T; 1:159014772-159014772

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.287G>T; p.R96I; 1:159015893-159015893

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1044A>C; p.T348T; 1:159020412-159020412

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.510G>T; p.K170N; 1:159016661-159016661

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1103G>A; p.R368Q; 1:159020471-159020471

thyroidcarcinomaSubstitution - Missense

c.1320C>A; p.F440L; 1:159032682-159032682

prostatecarcinomaSubstitution - Missense

c.146C>T; p.A49V; 1:159014826-159014826

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1735_1736delTA; p.Y579fs*17; 1:159051916-159051917

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaDeletion - Frameshift

c.1167_1168insA; p.T392fs*7; 1:159032529-159032530

pancreascarcinoma; ductal_carcinomaInsertion - Frameshift

c.967C>T; p.H323Y; 1:159018646-159018646

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.2074G>T; p.G692W; 1:159053689-159053689

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.599T>C; p.L200P; 1:159018278-159018278

livercarcinomaSubstitution - Missense

c.717C>A; p.F239L; 1:159018396-159018396

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1245A>G; p.S415S; 1:159032607-159032607

oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.315T>C; p.T105T; 1:159015921-159015921

breastcarcinomaSubstitution - coding silent

c.1656T>C; p.N552N; 1:159051837-159051837

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1168A>T; p.K390*; 1:159032530-159032530

lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.2084G>C; p.R695T; 1:159053699-159053699

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1003G>A; p.E335K; 1:159020371-159020371

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1134G>T; p.L378L; 1:159020502-159020502

livercarcinomaSubstitution - coding silent

c.1022G>A; p.G341E; 1:159020390-159020390

pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.633T>A; p.S211R; 1:159018312-159018312

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.114A>T; p.K38N; 1:159014794-159014794

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2037C>T; p.L679L; 1:159053652-159053652

skinmalignant_melanomaSubstitution - coding silent

c.68G>A; p.R23K; 1:159014748-159014748

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.46G>T; p.V16F; 1:159014726-159014726

breastcarcinomaSubstitution - Missense

c.572G>A; p.C191Y; 1:159018251-159018251

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.986A>G; p.Q329R; 1:159020354-159020354

livercarcinomaSubstitution - Missense

c.1458G>T; p.Q486H; 1:159045425-159045425

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.986A>G; p.Q329R; 1:159020354-159020354

livercarcinomaSubstitution - Missense

c.1822G>T; p.G608*; 1:159052003-159052003

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.919C>A; p.L307I; 1:159018598-159018598

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.45G>T; p.E15D; 1:159014725-159014725

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.814G>A; p.E272K; 1:159018493-159018493

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2067G>A; p.G689G; 1:159053682-159053682

ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.361G>C; p.E121Q; 1:159015967-159015967

urinary_tract; bladdercarcinomaSubstitution - Missense

c.913G>A; p.D305N; 1:159018592-159018592

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.526C>T; p.P176S; 1:159016677-159016677

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1802G>A; p.R601Q; 1:159051983-159051983

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2109+6A>T; p.?; 1:159053730-159053730

livercarcinomaUnknown

c.376G>T; p.A126S; 1:159015982-159015982

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1475C>A; p.P492Q; 1:159045442-159045442

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.376G>T; p.A126S; 1:159015982-159015982

livercarcinomaSubstitution - Missense

c.2109+6A>T; p.?; 1:159053730-159053730

livercarcinomaUnknown

c.1475C>A; p.P492Q; 1:159045442-159045442

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1661T>C; p.V554A; 1:159051842-159051842

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1554G>A; p.Q518Q; 1:159051735-159051735

breastcarcinomaSubstitution - coding silent

c.1554G>A; p.Q518Q; 1:159051735-159051735

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1210C>G; p.L404V; 1:159032572-159032572

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1994_1999delGACTGA; p.R665_T667>P; 1:159053609-159053614

prostatecarcinomaComplex - deletion inframe

c.658A>G; p.T220A; 1:159018337-159018337

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.211G>A; p.D71N; 1:159014891-159014891

pancreascarcinomaSubstitution - Missense

c.6delA; p.K4fs*8; 1:159014686-159014686

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1061delT; p.I354fs*25; 1:159020429-159020429

central_nervous_system; braingliomaDeletion - Frameshift

c.1885A>C; p.S629R; 1:159052066-159052066

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.6delA; p.K4fs*8; 1:159014686-159014686

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.785C>T; p.S262L; 1:159018464-159018464

central_nervous_system; braingliomaSubstitution - Missense

c.1954C>G; p.Q652E; 1:159053569-159053569

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.897G>A; p.K299K; 1:159018576-159018576

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.575A>C; p.Q192P; 1:159018254-159018254

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1209G>C; p.K403N; 1:159032571-159032571

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2167A>T; p.T723S; 1:159054878-159054878

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.435C>T; p.S145S; 1:159016586-159016586

oesophaguscarcinomaSubstitution - coding silent

c.1086C>T; p.L362L; 1:159020454-159020454

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1518_1519TG>CT; p.E507*; 1:159051699-159051700

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.268A>C; p.K90Q; 1:159015874-159015874

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1099T>G; p.F367V; 1:159020467-159020467

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.362A>G; p.E121G; 1:159015968-159015968

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1872A>G; p.S624S; 1:159052053-159052053

breastcarcinomaSubstitution - coding silent

c.620T>C; p.V207A; 1:159018299-159018299

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.885C>T; p.I295I; 1:159018564-159018564

skinmalignant_melanomaSubstitution - coding silent

c.346A>C; p.K116Q; 1:159015952-159015952

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1489T>G; p.L497V; 1:159045456-159045456

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2009A>C; p.N670T; 1:159053624-159053624

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.265G>C; p.V89L; 1:159014945-159014945

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1154T>G; p.F385C; 1:159020522-159020522

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.100A>T; p.K34*; 1:159014780-159014780

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.100A>T; p.K34*; 1:159014780-159014780

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.100A>T; p.K34*; 1:159014780-159014780

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.100A>T; p.K34*; 1:159014780-159014780

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.100A>T; p.K34*; 1:159014780-159014780

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.100A>T; p.K34*; 1:159014780-159014780

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.100A>T; p.K34*; 1:159014780-159014780

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.100A>T; p.K34*; 1:159014780-159014780

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.100A>T; p.K34*; 1:159014780-159014780

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.100A>T; p.K34*; 1:159014780-159014780

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.100A>T; p.K34*; 1:159014780-159014780

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.606A>G; p.K202K; 1:159018285-159018285

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2115C>G; p.I705M; 1:159054826-159054826

oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.478T>A; p.S160T; 1:159016629-159016629

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1214C>T; p.P405L; 1:159032576-159032576

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1102C>T; p.R368*; 1:159020470-159020470

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.717C>T; p.F239F; 1:159018396-159018396

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1623G>T; p.K541N; 1:159051804-159051804

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1921A>C; p.N641H; 1:159053536-159053536

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.539C>A; p.S180Y; 1:159016690-159016690

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1339G>T; p.D447Y; 1:159045306-159045306

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.427A>T; p.K143*; 1:159016578-159016578

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Nonsense

c.1745G>A; p.R582H; 1:159051926-159051926

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.672_673insA; p.I227fs*42; 1:159018351-159018352

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1745G>A; p.R582H; 1:159051926-159051926

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.94G>A; p.D32N; 1:159014774-159014774

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1669G>C; p.V557L; 1:159051850-159051850

breastcarcinomaSubstitution - Missense

c.417C>A; p.P139P; 1:159016568-159016568

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.952G>T; p.G318W; 1:159018631-159018631

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1277T>G; p.L426R; 1:159032639-159032639

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1277T>G; p.L426R; 1:159032639-159032639

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1089A>G; p.Q363Q; 1:159020457-159020457

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1089A>G; p.Q363Q; 1:159020457-159020457

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1277T>G; p.L426R; 1:159032639-159032639

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1089A>G; p.Q363Q; 1:159020457-159020457

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.2014G>T; p.E672*; 1:159053629-159053629

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1240C>A; p.P414T; 1:159032602-159032602

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.246_247insA; p.E85fs*34; 1:159014926-159014927

large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.982A>T; p.N328Y; 1:159020350-159020350

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.208G>A; p.E70K; 1:159014888-159014888

large_intestine; caecumadenomaSubstitution - Missense

c.618A>G; p.I206M; 1:159018297-159018297

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.62A>T; p.H21L; 1:159014742-159014742

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.291G>C; p.K97N; 1:159015897-159015897

breastcarcinomaSubstitution - Missense

c.611C>A; p.P204Q; 1:159018290-159018290

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1450A>C; p.T484P; 1:159045417-159045417

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.2058G>A; p.P686P; 1:159053673-159053673

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1345A>C; p.I449L; 1:159045312-159045312

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1237T>A; p.Y413N; 1:159032599-159032599

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1530A>C; p.E510D; 1:159051711-159051711

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1530A>C; p.E510D; 1:159051711-159051711

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1530A>C; p.E510D; 1:159051711-159051711

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1209G>A; p.K403K; 1:159032571-159032571

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1842C>T; p.S614S; 1:159052023-159052023

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1310C>T; p.S437F; 1:159032672-159032672

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1873C>A; p.Q625K; 1:159052054-159052054

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1345A>G; p.I449V; 1:159045312-159045312

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.673_674insA; p.I227fs*42; 1:159018352-159018353

stomachcarcinoma; intestinal_adenocarcinomaInsertion - Frameshift

c.1801C>T; p.R601*; 1:159051982-159051982

stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1801C>T; p.R601*; 1:159051982-159051982

stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1786G>A; p.D596N; 1:159051967-159051967

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.471C>G; p.A157A; 1:159016622-159016622

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.392A>C; p.K131T; 1:159016543-159016543

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1253G>A; p.S418N; 1:159032615-159032615

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2052G>T; p.L684F; 1:159053667-159053667

livercarcinomaSubstitution - Missense

c.2052G>T; p.L684F; 1:159053667-159053667

livercarcinomaSubstitution - Missense

c.2082G>C; p.L694F; 1:159053697-159053697

cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1928G>T; p.R643M; 1:159053543-159053543

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1585G>A; p.A529T; 1:159051766-159051766

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1673A>T; p.K558M; 1:159051854-159051854

breastcarcinomaSubstitution - Missense

c.1585G>A; p.A529T; 1:159051766-159051766

pancreascarcinomaSubstitution - Missense

c.1585G>A; p.A529T; 1:159051766-159051766

pancreascarcinomaSubstitution - Missense

c.1585G>A; p.A529T; 1:159051766-159051766

pancreascarcinomaSubstitution - Missense

c.1256C>A; p.T419K; 1:159032618-159032618

livercarcinomaSubstitution - Missense

c.1256C>A; p.T419K; 1:159032618-159032618

livercarcinomaSubstitution - Missense

c.409G>T; p.A137S; 1:159016560-159016560

prostatecarcinomaSubstitution - Missense

c.528A>C; p.P176P; 1:159016679-159016679

breastcarcinomaSubstitution - coding silent

c.830C>A; p.S277Y; 1:159018509-159018509

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1406G>A; p.G469E; 1:159045373-159045373

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.211G>T; p.D71Y; 1:159014891-159014891

breastcarcinomaSubstitution - Missense

c.207C>T; p.F69F; 1:159014887-159014887

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1050A>G; p.Q350Q; 1:159020418-159020418

breastcarcinomaSubstitution - coding silent


')