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

Basic Information

Gene ID

2735

Name

GLI1

Synonymous

GLI family zinc finger 1;GLI1;GLI family zinc finger 1

Definition

GLI-Kruppel family member GLI1|glioma-associated oncogene 1|glioma-associated oncogene homolog 1 (zinc finger protein)|oncogene GLI|zinc finger protein GLI1

Position

12q13.2-q13.3

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 0.16.

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.1628G>A; p.S543N; 12:57470368-57470368

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.938C>A; p.S313*; 12:57467358-57467358

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1666_1667delAG; p.S556fs*85; 12:57470406-57470407

 central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.2274C>T; p.P758P; 12:57471014-57471014

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2274C>T; p.P758P; 12:57471014-57471014

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1978C>A; p.L660M; 12:57470718-57470718

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.941G>A; p.R314H; 12:57467361-57467361

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1325C>T; p.P442L; 12:57469447-57469447

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2807T>C; p.V936A; 12:57471547-57471547

 skinmalignant_melanomaSubstitution - Missense

c.664_665delGA; p.E224fs*4; 12:57465827-57465828

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2007G>T; p.V669V; 12:57470747-57470747

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2535G>T; p.Q845H; 12:57471275-57471275

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2932G>C; p.A978P; 12:57471672-57471672

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.335C>T; p.S112L; 12:57464814-57464814

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.815_816insG; p.C275fs*32; 12:57466292-57466293

 stomachcarcinoma; intestinal_adenocarcinomaInsertion - Frameshift

c.716G>A; p.W239*; 12:57465879-57465879

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1910G>A; p.R637Q; 12:57470650-57470650

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1910G>A; p.R637Q; 12:57470650-57470650

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2283T>G; p.Y761*; 12:57471023-57471023

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.2112G>T; p.Q704H; 12:57470852-57470852

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.1720G>A; p.G574R; 12:57470460-57470460

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2610T>C; p.P870P; 12:57471350-57471350

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2555C>T; p.P852L; 12:57471295-57471295

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1387_1388delAG; p.S463fs*13; 12:57469509-57469510

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.81C>A; p.A27A; 12:57463772-57463772

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2140G>A; p.V714M; 12:57470880-57470880

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1348A>C; p.S450R; 12:57469470-57469470

 ovaryother; neoplasmSubstitution - Missense

c.1716G>A; p.E572E; 12:57470456-57470456

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.509C>T; p.S170F; 12:57465230-57465230

 skinmalignant_melanomaSubstitution - Missense

c.1665C>T; p.V555V; 12:57470405-57470405

 upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.120C>A; p.F40L; 12:57464018-57464018

 breastcarcinomaSubstitution - Missense

c.679C>T; p.R227C; 12:57465842-57465842

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2673G>A; p.G891G; 12:57471413-57471413

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.3053G>A; p.R1018K; 12:57471793-57471793

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.505C>G; p.Q169E; 12:57465226-57465226

 breastcarcinomaSubstitution - Missense

c.1899_1900ins15; p.T636_R637insNAGVT; 12:57470639-57470640

 lungcarcinoma; non_small_cell_carcinomaInsertion - In frame

c.628C>G; p.P210A; 12:57465791-57465791

 breastcarcinoma; ductolobular_carcinomaSubstitution - Missense

c.438G>A; p.S146S; 12:57465159-57465159

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.877C>T; p.R293C; 12:57466354-57466354

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.472G>T; p.D158Y; 12:57465193-57465193

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.472G>T; p.D158Y; 12:57465193-57465193

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2113G>A; p.E705K; 12:57470853-57470853

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1493T>G; p.L498R; 12:57469615-57469615

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3096G>A; p.Q1032Q; 12:57471836-57471836

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1943G>A; p.R648H; 12:57470683-57470683

 central_nervous_system; brainglioma; astrocytoma_Grade_IIISubstitution - Missense

c.2207A>T; p.E736V; 12:57470947-57470947

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.571C>T; p.R191W; 12:57465643-57465643

 skinmalignant_melanomaSubstitution - Missense

c.1083G>A; p.P361P; 12:57467999-57467999

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.840G>A; p.R280R; 12:57466317-57466317

 skinmalignant_melanomaSubstitution - coding silent

c.2249C>T; p.S750F; 12:57470989-57470989

 skinmalignant_melanomaSubstitution - Missense

c.2449G>C; p.E817Q; 12:57471189-57471189

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.959C>T; p.T320M; 12:57467379-57467379

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.250T>C; p.S84P; 12:57464729-57464729

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2167G>A; p.D723N; 12:57470907-57470907

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.440C>A; p.P147H; 12:57465161-57465161

 ovaryother; neoplasmSubstitution - Missense

c.754C>A; p.L252M; 12:57465917-57465917

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.941G>T; p.R314L; 12:57467361-57467361

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2046C>A; p.T682T; 12:57470786-57470786

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2234C>T; p.A745V; 12:57470974-57470974

 pancreascarcinomaSubstitution - Missense

c.1054C>A; p.Q352K; 12:57467474-57467474

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.2798G>A; p.G933D; 12:57471538-57471538

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.2112G>A; p.Q704Q; 12:57470852-57470852

 pancreascarcinomaSubstitution - coding silent

c.242G>A; p.R81Q; 12:57464721-57464721

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3187C>A; p.P1063T; 12:57471927-57471927

 breastcarcinomaSubstitution - Missense

c.1673G>A; p.R558H; 12:57470413-57470413

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1318C>A; p.P440T; 12:57469440-57469440

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3237G>C; p.G1079G; 12:57471977-57471977

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2480C>T; p.T827I; 12:57471220-57471220

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.606C>G; p.P202P; 12:57465678-57465678

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.3090A>G; p.E1030E; 12:57471830-57471830

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1085A>G; p.Y362C; 12:57468001-57468001

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.241C>T; p.R81W; 12:57464720-57464720

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3279A>T; p.R1093S; 12:57472019-57472019

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.164C>A; p.P55Q; 12:57464062-57464062

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.2005G>A; p.V669M; 12:57470745-57470745

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2450A>G; p.E817G; 12:57471190-57471190

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3013_3014GG>AA; p.G1005K; 12:57471753-57471754

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2553C>A; p.Y851*; 12:57471293-57471293

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.141G>A; p.M47I; 12:57464039-57464039

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3205G>A; p.G1069S; 12:57471945-57471945

 skinmalignant_melanomaSubstitution - Missense

c.194G>A; p.G65D; 12:57464673-57464673

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1406G>T; p.G469V; 12:57469528-57469528

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1886_1887insCAACCC; p.N632_A633insPN; 12:57470626-57470627

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - In frame

c.511C>T; p.R171W; 12:57465232-57465232

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2741G>A; p.G914D; 12:57471481-57471481

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1541C>T; p.T514I; 12:57469663-57469663

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.2741G>A; p.G914D; 12:57471481-57471481

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2741G>A; p.G914D; 12:57471481-57471481

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3282C>T; p.S1094S; 12:57472022-57472022

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2852G>A; p.G951D; 12:57471592-57471592

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.379G>A; p.G127S; 12:57464858-57464858

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.344C>T; p.T115I; 12:57464823-57464823

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.3191C>T; p.S1064F; 12:57471931-57471931

 skinmalignant_melanomaSubstitution - Missense

c.1138C>T; p.R380*; 12:57468054-57468054

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1138C>T; p.R380*; 12:57468054-57468054

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.794G>A; p.R265Q; 12:57466271-57466271

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.794G>A; p.R265Q; 12:57466271-57466271

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.2070C>T; p.P690P; 12:57470810-57470810

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2253G>T; p.L751L; 12:57470993-57470993

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1490G>A; p.R497H; 12:57469612-57469612

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1490G>A; p.R497H; 12:57469612-57469612

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.628C>T; p.P210S; 12:57465791-57465791

 skinmalignant_melanomaSubstitution - Missense

c.1912A>G; p.R638G; 12:57470652-57470652

 skinmalignant_melanomaSubstitution - Missense

c.628C>T; p.P210S; 12:57465791-57465791

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1415G>A; p.G472E; 12:57469537-57469537

 skinmalignant_melanomaSubstitution - Missense

c.2947C>T; p.H983Y; 12:57471687-57471687

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2354_2355CC>TT; p.S785F; 12:57471094-57471095

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1243A>C; p.K415Q; 12:57468159-57468159

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2641C>T; p.L881L; 12:57471381-57471381

 skinmalignant_melanomaSubstitution - coding silent

c.926G>A; p.R309Q; 12:57467346-57467346

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3153T>C; p.A1051A; 12:57471893-57471893

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.97G>T; p.E33*; 12:57463788-57463788

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.2936A>G; p.N979S; 12:57471676-57471676

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2305C>T; p.Q769*; 12:57471045-57471045

 pancreascarcinomaSubstitution - Nonsense

c.815_816delGG; p.G274fs*32; 12:57466292-57466293

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.815_816delGG; p.G274fs*32; 12:57466292-57466293

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.3230C>T; p.P1077L; 12:57471970-57471970

 skinmalignant_melanomaSubstitution - Missense

c.298C>T; p.R100C; 12:57464777-57464777

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1170C>T; p.D390D; 12:57468086-57468086

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.298C>T; p.R100C; 12:57464777-57464777

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3292G>C; p.E1098Q; 12:57472032-57472032

 skinmalignant_melanomaSubstitution - Missense

c.946G>A; p.E316K; 12:57467366-57467366

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2175A>C; p.P725P; 12:57470915-57470915

 breastcarcinomaSubstitution - coding silent

c.629C>T; p.P210L; 12:57465792-57465792

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1060C>T; p.R354W; 12:57467480-57467480

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2832A>C; p.P944P; 12:57471572-57471572

 skinmalignant_melanomaSubstitution - coding silent

c.3118C>T; p.L1040F; 12:57471858-57471858

 breastcarcinomaSubstitution - Missense

c.1214G>A; p.R405Q; 12:57468130-57468130

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2541C>T; p.L847L; 12:57471281-57471281

 skinmalignant_melanomaSubstitution - coding silent

c.2904A>G; p.S968S; 12:57471644-57471644

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1134G>A; p.S378S; 12:57468050-57468050

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2293C>T; p.P765S; 12:57471033-57471033

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.336G>A; p.S112S; 12:57464815-57464815

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.336G>A; p.S112S; 12:57464815-57464815

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.2386C>T; p.L796L; 12:57471126-57471126

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2916A>C; p.E972D; 12:57471656-57471656

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.920G>A; p.G307E; 12:57467340-57467340

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2916A>C; p.E972D; 12:57471656-57471656

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.280G>T; p.D94Y; 12:57464759-57464759

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1287G>A; p.L429L; 12:57468203-57468203

 skinmalignant_melanomaSubstitution - coding silent

c.1148T>C; p.V383A; 12:57468064-57468064

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1115G>A; p.R372H; 12:57468031-57468031

 central_nervous_system; braingliomaSubstitution - Missense

c.3087C>T; p.P1029P; 12:57471827-57471827

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1540A>G; p.T514A; 12:57469662-57469662

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3276G>A; p.L1092L; 12:57472016-57472016

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2580C>T; p.L860L; 12:57471320-57471320

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.612C>T; p.S204S; 12:57465684-57465684

 skinmalignant_melanomaSubstitution - coding silent

c.530G>A; p.C177Y; 12:57465251-57465251

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.530G>A; p.C177Y; 12:57465251-57465251

 prostateadenomaSubstitution - Missense

c.2157C>T; p.N719N; 12:57470897-57470897

 pancreascarcinomaSubstitution - coding silent

c.2247C>T; p.G749G; 12:57470987-57470987

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1820C>T; p.S607F; 12:57470560-57470560

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2038C>T; p.L680F; 12:57470778-57470778

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3320A>C; p.*1107S; 12:57472060-57472060

 livercarcinomaNonstop extension

c.3008A>C; p.K1003T; 12:57471748-57471748

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.599C>G; p.S200C; 12:57465671-57465671

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1574C>A; p.T525N; 12:57469696-57469696

 prostatecarcinomaSubstitution - Missense

c.1867C>T; p.R623*; 12:57470607-57470607

 oesophaguscarcinoma; adenocarcinomaSubstitution - Nonsense

c.788G>A; p.G263E; 12:57466265-57466265

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2571C>T; p.P857P; 12:57471311-57471311

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.3137A>T; p.Q1046L; 12:57471877-57471877

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.3152C>T; p.A1051V; 12:57471892-57471892

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.831G>A; p.R277R; 12:57466308-57466308

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2190G>A; p.L730L; 12:57470930-57470930

 skinmalignant_melanomaSubstitution - coding silent

c.2598C>A; p.T866T; 12:57471338-57471338

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1908C>A; p.T636T; 12:57470648-57470648

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1802C>A; p.T601N; 12:57470542-57470542

 breastcarcinomaSubstitution - Missense

c.534+2T>C; p.?; 12:57465257-57465257

 stomachcarcinoma; adenocarcinomaUnknown

c.612C>A; p.S204S; 12:57465684-57465684

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1669C>T; p.R557C; 12:57470409-57470409

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.262C>A; p.L88M; 12:57464741-57464741

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.262C>A; p.L88M; 12:57464741-57464741

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.912+2T>C; p.?; 12:57466391-57466391

 stomachadenocarcinomaUnknown

c.1358C>T; p.S453F; 12:57469480-57469480

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1432C>T; p.L478F; 12:57469554-57469554

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.2998G>A; p.G1000R; 12:57471738-57471738

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2546C>T; p.S849F; 12:57471286-57471286

 skinmalignant_melanomaSubstitution - Missense

c.262C>A; p.L88M; 12:57464741-57464741

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1358C>T; p.S453F; 12:57469480-57469480

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.576G>A; p.E192E; 12:57465648-57465648

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1716G>T; p.E572D; 12:57470456-57470456

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2786A>C; p.K929T; 12:57471526-57471526

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; plasma_cell_myelomaSubstitution - Missense

c.815delG; p.G274fs*6; 12:57466292-57466292

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.2791C>A; p.L931M; 12:57471531-57471531

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.815delG; p.G274fs*6; 12:57466292-57466292

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.815delG; p.G274fs*6; 12:57466292-57466292

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.815delG; p.G274fs*6; 12:57466292-57466292

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.815delG; p.G274fs*6; 12:57466292-57466292

 large_intestine; rectumcarcinoma; adenocarcinomaDeletion - Frameshift

c.815delG; p.G274fs*6; 12:57466292-57466292

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.815delG; p.G274fs*6; 12:57466292-57466292

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.815delG; p.G274fs*6; 12:57466292-57466292

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.815delG; p.G274fs*6; 12:57466292-57466292

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.815delG; p.G274fs*6; 12:57466292-57466292

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.815delG; p.G274fs*6; 12:57466292-57466292

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.815delG; p.G274fs*6; 12:57466292-57466292

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.815delG; p.G274fs*6; 12:57466292-57466292

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.704C>T; p.T235I; 12:57465867-57465867

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2198G>C; p.G733A; 12:57470938-57470938

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.815delG; p.G274fs*6; 12:57466292-57466292

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.3295A>G; p.T1099A; 12:57472035-57472035

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1831C>T; p.R611W; 12:57470571-57470571

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.96A>G; p.T32T; 12:57463787-57463787

 pancreascarcinomaSubstitution - coding silent

c.1005C>T; p.H335H; 12:57467425-57467425

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1247G>C; p.R416T; 12:57468163-57468163

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1569C>A; p.S523S; 12:57469691-57469691

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3105_3106insC; p.L1037fs*5; 12:57471845-57471846

 stomachcarcinoma; intestinal_adenocarcinomaInsertion - Frameshift

c.1139G>A; p.R380Q; 12:57468055-57468055

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1139G>A; p.R380Q; 12:57468055-57468055

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1139G>A; p.R380Q; 12:57468055-57468055

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1139G>A; p.R380Q; 12:57468055-57468055

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.143C>T; p.S48F; 12:57464041-57464041

 skinmalignant_melanomaSubstitution - Missense

c.2456G>C; p.G819A; 12:57471196-57471196

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.664G>A; p.E222K; 12:57465827-57465827

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2456G>C; p.G819A; 12:57471196-57471196

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.1543C>T; p.R515W; 12:57469665-57469665

 breastcarcinomaSubstitution - Missense

c.2599C>A; p.Q867K; 12:57471339-57471339

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.2783C>T; p.P928L; 12:57471523-57471523

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.503C>A; p.P168H; 12:57465224-57465224

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2624C>T; p.S875L; 12:57471364-57471364

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.984G>A; p.E328E; 12:57467404-57467404

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1291G>C; p.V431L; 12:57468207-57468207

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1503C>G; p.L501L; 12:57469625-57469625

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.2514T>G; p.S838R; 12:57471254-57471254

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.113C>T; p.P38L; 12:57464011-57464011

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.266C>T; p.S89L; 12:57464745-57464745

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.3317C>T; p.A1106V; 12:57472057-57472057

 skinmalignant_melanomaSubstitution - Missense

c.2045_2046insAG; p.S683fs*37; 12:57470785-57470786

 kidneycarcinoma; clear_cell_renal_cell_carcinomaInsertion - Frameshift

c.610T>C; p.S204P; 12:57465682-57465682

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.80delC; p.S29fs*49; 12:57463771-57463771

 stomachadenocarcinomaDeletion - Frameshift

c.80delC; p.S29fs*49; 12:57463771-57463771

 pancreascarcinoma; acinar_carcinomaDeletion - Frameshift

c.2749G>T; p.D917Y; 12:57471489-57471489

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.2191_2192GG>AA; p.G731K; 12:57470931-57470932

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.482G>A; p.R161Q; 12:57465203-57465203

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1405G>A; p.G469S; 12:57469527-57469527

 kidneyother; neoplasmSubstitution - Missense

c.786C>T; p.H262H; 12:57466263-57466263

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3116C>T; p.S1039F; 12:57471856-57471856

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2464_2465insT; p.S824fs*2; 12:57471204-57471205

 oesophagus; lower_thirdcarcinoma; adenocarcinomaInsertion - Frameshift

c.723C>G; p.G241G; 12:57465886-57465886

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2857G>T; p.G953*; 12:57471597-57471597

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.967C>T; p.R323W; 12:57467387-57467387

 breastcarcinomaSubstitution - Missense

c.343A>G; p.T115A; 12:57464822-57464822

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3302T>C; p.F1101S; 12:57472042-57472042

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.123C>A; p.C41*; 12:57464021-57464021

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.3292G>T; p.E1098*; 12:57472032-57472032

 skinmalignant_melanomaSubstitution - Nonsense

c.58C>T; p.R20W; 12:57463749-57463749

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.445T>A; p.F149I; 12:57465166-57465166

 skinmalignant_melanomaSubstitution - Missense

c.187A>C; p.T63P; 12:57464085-57464085

 breastcarcinomaSubstitution - Missense

c.1873G>A; p.E625K; 12:57470613-57470613

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2622T>C; p.P874P; 12:57471362-57471362

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.2413C>T; p.R805*; 12:57471153-57471153

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1806G>A; p.S602S; 12:57470546-57470546

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.787G>A; p.G263R; 12:57466264-57466264

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1704C>T; p.G568G; 12:57470444-57470444

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.804C>T; p.F268F; 12:57466281-57466281

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2713C>G; p.Q905E; 12:57471453-57471453

 breastcarcinomaSubstitution - Missense

c.1595G>A; p.R532H; 12:57470335-57470335

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1618G>A; p.E540K; 12:57470358-57470358

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.3238delC; p.N1082fs*7; 12:57471978-57471978

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1603C>T; p.P535S; 12:57470343-57470343

 breastcarcinoma; HER-positive_carcinomaSubstitution - Missense

c.2360C>G; p.S787C; 12:57471100-57471100

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3281C>T; p.S1094F; 12:57472021-57472021

 skinmalignant_melanomaSubstitution - Missense

c.3281C>T; p.S1094F; 12:57472021-57472021

 skinmalignant_melanomaSubstitution - Missense

c.3281C>T; p.S1094F; 12:57472021-57472021

 skinmalignant_melanomaSubstitution - Missense

c.3030C>T; p.S1010S; 12:57471770-57471770

 skinmalignant_melanomaSubstitution - coding silent

c.2915delA; p.N973fs*3; 12:57471655-57471655

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.940C>G; p.R314G; 12:57467360-57467360

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.3092G>A; p.G1031E; 12:57471832-57471832

 skinmalignant_melanomaSubstitution - Missense

c.2519G>A; p.G840E; 12:57471259-57471259

 skinmalignant_melanomaSubstitution - Missense

c.1133C>T; p.S378L; 12:57468049-57468049

 skinmalignant_melanomaSubstitution - Missense

c.207T>A; p.S69S; 12:57464686-57464686

 pancreascarcinomaSubstitution - coding silent

c.207T>A; p.S69S; 12:57464686-57464686

 pancreascarcinomaSubstitution - coding silent

c.2082G>T; p.E694D; 12:57470822-57470822

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3168C>T; p.P1056P; 12:57471908-57471908

 skin; armmalignant_melanomaSubstitution - coding silent

c.1941C>A; p.D647E; 12:57470681-57470681

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.814_815insG; p.C275fs*32; 12:57466291-57466292

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.814_815insG; p.C275fs*32; 12:57466291-57466292

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.814_815insG; p.C275fs*32; 12:57466291-57466292

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.446T>C; p.F149S; 12:57465167-57465167

 kidneyother; neoplasmSubstitution - Missense

c.319G>A; p.V107I; 12:57464798-57464798

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.338G>A; p.R113Q; 12:57464817-57464817

 pancreasNSSubstitution - Missense

c.1503C>T; p.L501L; 12:57469625-57469625

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.338G>A; p.R113Q; 12:57464817-57464817

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1896T>A; p.N632K; 12:57470636-57470636

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.314C>T; p.S105F; 12:57464793-57464793

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1948G>T; p.A650S; 12:57470688-57470688

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.912+2T>G; p.?; 12:57466391-57466391

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaUnknown

c.1114C>T; p.R372C; 12:57468030-57468030

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.1405G>T; p.G469C; 12:57469527-57469527

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.799G>A; p.E267K; 12:57466276-57466276

 skinmalignant_melanomaSubstitution - Missense

c.657G>A; p.E219E; 12:57465820-57465820

 skinmalignant_melanomaSubstitution - coding silent

c.630C>T; p.P210P; 12:57465793-57465793

 breastcarcinomaSubstitution - coding silent

c.3298G>C; p.E1100Q; 12:57472038-57472038

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.940C>A; p.R314S; 12:57467360-57467360

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1106G>T; p.C369F; 12:57468022-57468022

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.3085C>T; p.P1029S; 12:57471825-57471825

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.940C>T; p.R314C; 12:57467360-57467360

 pancreascarcinomaSubstitution - Missense

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