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

Basic Information

Gene ID

4640

Name

MYO1A

Synonymous

myosin IA;MYO1A;myosin IA

Definition

brush border myosin I|myosin I heavy chain|myosin, heavy polypeptide-like (100kD)|unconventional myosin-Ia

Position

12q13-q14

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 0.11.

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.2166G>T; p.K722N; 12:57036981-57036981

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1961+7C>T; p.?; 12:57037862-57037862

 breastcarcinomaUnknown

c.2634G>A; p.G878G; 12:57029830-57029830

 NSmalignant_melanomaSubstitution - coding silent

c.2634G>A; p.G878G; 12:57029830-57029830

 NSmalignant_melanomaSubstitution - coding silent

c.2065C>T; p.L689F; 12:57037082-57037082

 skinmalignant_melanomaSubstitution - Missense

c.1441C>T; p.H481Y; 12:57038901-57038901

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1297T>C; p.F433L; 12:57039247-57039247

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1297T>C; p.F433L; 12:57039247-57039247

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1297T>C; p.F433L; 12:57039247-57039247

 large_intestine; coloncarcinomaSubstitution - Missense

c.1297T>C; p.F433L; 12:57039247-57039247

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.78G>T; p.K26N; 12:57048246-57048246

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2065C>T; p.L689F; 12:57037082-57037082

 skinmalignant_melanomaSubstitution - Missense

c.1986G>A; p.G662G; 12:57037617-57037617

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1780C>A; p.H594N; 12:57038050-57038050

 livercarcinomaSubstitution - Missense

c.437G>A; p.G146D; 12:57047101-57047101

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1339C>T; p.R447*; 12:57039003-57039003

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.2535G>A; p.R845R; 12:57030266-57030266

 skinmalignant_melanomaSubstitution - coding silent

c.1724T>C; p.M575T; 12:57038448-57038448

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1116G>A; p.K372K; 12:57041480-57041480

 skinmalignant_melanomaSubstitution - coding silent

c.2535G>A; p.R845R; 12:57030266-57030266

 skinmalignant_melanomaSubstitution - coding silent

c.745-1G>T; p.?; 12:57044004-57044004

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.559C>T; p.R187*; 12:57046633-57046633

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.2302C>T; p.R768W; 12:57036354-57036354

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2302C>T; p.R768W; 12:57036354-57036354

 skinmalignant_melanomaSubstitution - Missense

c.1059C>G; p.L353L; 12:57043111-57043111

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.2115G>A; p.Q705Q; 12:57037032-57037032

 skinmalignant_melanomaSubstitution - coding silent

c.175C>T; p.P59S; 12:57048044-57048044

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2272A>C; p.K758Q; 12:57036774-57036774

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.42_43CC>TT; p.L15F; 12:57048281-57048282

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2748G>A; p.L916L; 12:57029564-57029564

 skinmalignant_melanomaSubstitution - coding silent

c.2031G>T; p.K677N; 12:57037572-57037572

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2463G>A; p.Q821Q; 12:57031061-57031061

 skinmalignant_melanomaSubstitution - coding silent

c.2623G>A; p.G875R; 12:57029841-57029841

 skinmalignant_melanomaSubstitution - Missense

c.1280G>T; p.W427L; 12:57039264-57039264

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1280G>T; p.W427L; 12:57039264-57039264

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.880C>T; p.R294C; 12:57043868-57043868

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.880C>T; p.R294C; 12:57043868-57043868

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3066T>G; p.G1022G; 12:57028821-57028821

 breastcarcinomaSubstitution - coding silent

c.3066T>G; p.G1022G; 12:57028821-57028821

 breastcarcinomaSubstitution - coding silent

c.869C>G; p.A290G; 12:57043879-57043879

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.580G>A; p.G194R; 12:57046612-57046612

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.567G>A; p.V189V; 12:57046625-57046625

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.2645T>C; p.L882P; 12:57029819-57029819

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.196C>T; p.Q66*; 12:57048023-57048023

 skinmalignant_melanomaSubstitution - Nonsense

c.1754A>G; p.Y585C; 12:57038418-57038418

 livercarcinomaSubstitution - Missense

c.1754A>G; p.Y585C; 12:57038418-57038418

 livercarcinomaSubstitution - Missense

c.721G>A; p.A241T; 12:57044129-57044129

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1355T>C; p.M452T; 12:57038987-57038987

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2833G>A; p.V945I; 12:57029479-57029479

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1828C>T; p.R610W; 12:57038002-57038002

 skin; extremitymalignant_melanomaSubstitution - Missense

c.2125C>T; p.R709*; 12:57037022-57037022

 ovarycarcinoma; serous_carcinomaSubstitution - Nonsense

c.1968T>G; p.G656G; 12:57037635-57037635

 breastcarcinomaSubstitution - coding silent

c.128A>T; p.N43I; 12:57048091-57048091

 skinmalignant_melanomaSubstitution - Missense

c.251C>T; p.A84V; 12:57047701-57047701

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.2671_2672GG>CT; p.G891L; 12:57029792-57029793

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1682_1683insC; p.T562fs*32; 12:57038489-57038490

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.3099_3100insA; p.G1034fs*>11; 12:57028787-57028788

 stomachcarcinoma; intestinal_adenocarcinomaInsertion - Frameshift

c.2598C>T; p.P866P; 12:57029866-57029866

 skinmalignant_melanomaSubstitution - coding silent

c.82C>A; p.L28I; 12:57048242-57048242

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1202A>T; p.N401I; 12:57041251-57041251

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2899G>A; p.G967R; 12:57029238-57029238

 skinmalignant_melanomaSubstitution - Missense

c.1987_1988GA>CC; p.E663P; 12:57037615-57037616

 skinmalignant_melanomaSubstitution - Missense

c.1916G>A; p.R639Q; 12:57037914-57037914

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.183C>A; p.F61L; 12:57048036-57048036

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2237C>T; p.S746F; 12:57036809-57036809

 skinmalignant_melanomaSubstitution - Missense

c.477T>A; p.F159L; 12:57047061-57047061

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1630C>T; p.R544W; 12:57038542-57038542

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2076G>T; p.Q692H; 12:57037071-57037071

 ovaryother; neoplasmSubstitution - Missense

c.2076G>T; p.Q692H; 12:57037071-57037071

 ovaryother; neoplasmSubstitution - Missense

c.2607C>T; p.F869F; 12:57029857-57029857

 oesophaguscarcinomaSubstitution - coding silent

c.2211G>A; p.K737K; 12:57036835-57036835

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2735G>A; p.R912Q; 12:57029577-57029577

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.947C>T; p.A316V; 12:57043304-57043304

 skinmalignant_melanomaSubstitution - Missense

c.43C>T; p.L15F; 12:57048281-57048281

 skinmalignant_melanomaSubstitution - Missense

c.3081G>T; p.K1027N; 12:57028806-57028806

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.944G>A; p.R315K; 12:57043307-57043307

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.521T>A; p.L174H; 12:57046883-57046883

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.959G>A; p.R320K; 12:57043292-57043292

 skin; armmalignant_melanomaSubstitution - Missense

c.3063A>T; p.A1021A; 12:57028824-57028824

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.2279G>A; p.R760Q; 12:57036377-57036377

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2279G>A; p.R760Q; 12:57036377-57036377

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1790G>A; p.R597Q; 12:57038040-57038040

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1790G>A; p.R597Q; 12:57038040-57038040

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1546G>A; p.V516M; 12:57038626-57038626

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.2291G>A; p.R764H; 12:57036365-57036365

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1354A>G; p.M452V; 12:57038988-57038988

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.820C>A; p.L274M; 12:57043928-57043928

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.164C>T; p.P55L; 12:57048055-57048055

 skinmalignant_melanomaSubstitution - Missense

c.316_317GG>TT; p.G106>?; 12:57047635-57047636

 lungcarcinoma; adenocarcinomaComplex

c.2028A>T; p.T676T; 12:57037575-57037575

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.1446C>T; p.Y482Y; 12:57038896-57038896

 livercarcinomaSubstitution - coding silent

c.1446C>T; p.Y482Y; 12:57038896-57038896

 livercarcinomaSubstitution - coding silent

c.1162G>A; p.E388K; 12:57041434-57041434

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.852G>A; p.Q284Q; 12:57043896-57043896

 skinmalignant_melanomaSubstitution - coding silent

c.473G>A; p.R158Q; 12:57047065-57047065

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.473G>A; p.R158Q; 12:57047065-57047065

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1600G>A; p.A534T; 12:57038572-57038572

 breastcarcinomaSubstitution - Missense

c.1886A>G; p.Q629R; 12:57037944-57037944

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1162G>A; p.E388K; 12:57041434-57041434

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.2026A>G; p.T676A; 12:57037577-57037577

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2026A>G; p.T676A; 12:57037577-57037577

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2026A>G; p.T676A; 12:57037577-57037577

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3039_3048del?; p.?; 12:57028788-57028797

 skin; legmalignant_melanomaUnknown

c.934G>T; p.E312*; 12:57043317-57043317

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.984G>T; p.K328N; 12:57043267-57043267

 breastcarcinomaSubstitution - Missense

c.2438T>A; p.L813H; 12:57031086-57031086

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.317G>A; p.G106E; 12:57047635-57047635

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.590A>G; p.N197S; 12:57046602-57046602

 skinmalignant_melanomaSubstitution - Missense

c.2824G>T; p.G942W; 12:57029488-57029488

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1861C>T; p.R621*; 12:57037969-57037969

 breastcarcinomaSubstitution - Nonsense

c.1861C>T; p.R621*; 12:57037969-57037969

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1861C>T; p.R621*; 12:57037969-57037969

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1861C>T; p.R621*; 12:57037969-57037969

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.703G>A; p.V235M; 12:57044147-57044147

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.2579C>T; p.S860L; 12:57030222-57030222

 skinmalignant_melanomaSubstitution - Missense

c.2097G>A; p.Q699Q; 12:57037050-57037050

 skinmalignant_melanomaSubstitution - coding silent

c.2073A>G; p.E691E; 12:57037074-57037074

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.2162G>A; p.R721Q; 12:57036985-57036985

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2162G>A; p.R721Q; 12:57036985-57036985

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1624C>T; p.L542F; 12:57038548-57038548

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1015C>G; p.Q339E; 12:57043155-57043155

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.722C>G; p.A241G; 12:57044128-57044128

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.883G>A; p.D295N; 12:57043865-57043865

 skinmalignant_melanomaSubstitution - Missense

c.1961G>A; p.R654Q; 12:57037869-57037869

 pancreascarcinomaSubstitution - Missense

c.455G>A; p.R152H; 12:57047083-57047083

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2907C>T; p.F969F; 12:57029230-57029230

 skinmalignant_melanomaSubstitution - coding silent

c.2370G>A; p.G790G; 12:57031154-57031154

 skinmalignant_melanomaSubstitution - coding silent

c.1683G>T; p.P561P; 12:57038489-57038489

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.784C>T; p.R262*; 12:57043964-57043964

 skinmalignant_melanomaSubstitution - Nonsense

c.2587C>G; p.Q863E; 12:57030214-57030214

 breastcarcinomaSubstitution - Missense

c.2190G>A; p.W730*; 12:57036957-57036957

 skinmalignant_melanomaSubstitution - Nonsense

c.1852G>A; p.V618I; 12:57037978-57037978

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1321C>T; p.L441F; 12:57039223-57039223

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2027C>G; p.T676R; 12:57037576-57037576

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1745G>T; p.S582I; 12:57038427-57038427

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.454C>T; p.R152C; 12:57047084-57047084

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.1501A>G; p.S501G; 12:57038841-57038841

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.899G>A; p.R300Q; 12:57043352-57043352

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1025G>A; p.R342Q; 12:57043145-57043145

 breastcarcinomaSubstitution - Missense

c.1025G>A; p.R342Q; 12:57043145-57043145

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2584C>T; p.P862S; 12:57030217-57030217

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2584C>T; p.P862S; 12:57030217-57030217

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.579A>T; p.K193N; 12:57046613-57046613

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2694C>T; p.A898A; 12:57029770-57029770

 central_nervous_system; braingliomaSubstitution - coding silent

c.1915C>T; p.R639*; 12:57037915-57037915

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1915C>T; p.R639*; 12:57037915-57037915

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.25G>T; p.G9W; 12:57048299-57048299

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.2334C>A; p.F778L; 12:57036322-57036322

 livercarcinomaSubstitution - Missense

c.2334C>A; p.F778L; 12:57036322-57036322

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.2334C>A; p.F778L; 12:57036322-57036322

 livercarcinomaSubstitution - Missense

c.522C>T; p.L174L; 12:57046882-57046882

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.634C>G; p.L212V; 12:57046558-57046558

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.2068G>A; p.E690K; 12:57037079-57037079

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1004T>G; p.V335G; 12:57043247-57043247

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2195G>A; p.R732Q; 12:57036952-57036952

 skinmalignant_melanomaSubstitution - Missense

c.802A>G; p.T268A; 12:57043946-57043946

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2510C>T; p.S837F; 12:57030291-57030291

 skinmalignant_melanomaSubstitution - Missense

c.2850T>C; p.D950D; 12:57029462-57029462

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.929C>A; p.S310*; 12:57043322-57043322

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.28_29insG; p.V10fs*24; 12:57048295-57048296

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.960G>A; p.R320R; 12:57043291-57043291

 skin; armmalignant_melanomaSubstitution - coding silent

c.3098A>G; p.K1033R; 12:57028789-57028789

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3098A>G; p.K1033R; 12:57028789-57028789

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3098A>G; p.K1033R; 12:57028789-57028789

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3098A>G; p.K1033R; 12:57028789-57028789

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.2535G>T; p.R845S; 12:57030266-57030266

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2006G>C; p.G669A; 12:57037597-57037597

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1862G>A; p.R621Q; 12:57037968-57037968

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.1888G>A; p.G630S; 12:57037942-57037942

 skinmalignant_melanomaSubstitution - Missense

c.374G>A; p.G125E; 12:57047359-57047359

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.497A>G; p.E166G; 12:57046907-57046907

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3098delA; p.K1033fs*8; 12:57028789-57028789

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.3098delA; p.K1033fs*8; 12:57028789-57028789

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.3098delA; p.K1033fs*8; 12:57028789-57028789

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.3098delA; p.K1033fs*8; 12:57028789-57028789

 large_intestine; rectumcarcinoma; adenocarcinomaDeletion - Frameshift

c.3098delA; p.K1033fs*8; 12:57028789-57028789

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.3098delA; p.K1033fs*8; 12:57028789-57028789

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.3098delA; p.K1033fs*8; 12:57028789-57028789

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.3098delA; p.K1033fs*8; 12:57028789-57028789

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.3098delA; p.K1033fs*8; 12:57028789-57028789

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.3098delA; p.K1033fs*8; 12:57028789-57028789

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.3098delA; p.K1033fs*8; 12:57028789-57028789

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.3098delA; p.K1033fs*8; 12:57028789-57028789

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.3098delA; p.K1033fs*8; 12:57028789-57028789

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.3098delA; p.K1033fs*8; 12:57028789-57028789

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.3098delA; p.K1033fs*8; 12:57028789-57028789

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.3098delA; p.K1033fs*8; 12:57028789-57028789

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.3098delA; p.K1033fs*8; 12:57028789-57028789

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.3098delA; p.K1033fs*8; 12:57028789-57028789

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.3098delA; p.K1033fs*8; 12:57028789-57028789

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.3098delA; p.K1033fs*8; 12:57028789-57028789

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.798G>T; p.E266D; 12:57043950-57043950

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1055G>A; p.R352H; 12:57043115-57043115

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1675C>T; p.R559C; 12:57038497-57038497

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1706G>A; p.S569N; 12:57038466-57038466

 skin; trunkmalignant_melanomaSubstitution - Missense

c.698C>T; p.S233F; 12:57044152-57044152

 skinmalignant_melanomaSubstitution - Missense

c.967G>A; p.E323K; 12:57043284-57043284

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1728G>T; p.K576N; 12:57038444-57038444

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.235G>A; p.A79T; 12:57047717-57047717

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.234C>T; p.Y78Y; 12:57047718-57047718

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.91C>T; p.R31C; 12:57048233-57048233

 central_nervous_system; brainglioma; astrocytoma_Grade_IISubstitution - Missense

c.1635C>T; p.S545S; 12:57038537-57038537

 skinmalignant_melanomaSubstitution - coding silent

c.3016A>T; p.R1006W; 12:57028871-57028871

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2570A>G; p.K857R; 12:57030231-57030231

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.91C>T; p.R31C; 12:57048233-57048233

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.205A>T; p.T69S; 12:57048014-57048014

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2877+1G>T; p.?; 12:57029434-57029434

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.205A>T; p.T69S; 12:57048014-57048014

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1030G>A; p.A344T; 12:57043140-57043140

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2037C>T; p.F679F; 12:57037566-57037566

 skinmalignant_melanomaSubstitution - coding silent

c.2037C>T; p.F679F; 12:57037566-57037566

 skinmalignant_melanomaSubstitution - coding silent

c.2498G>C; p.R833P; 12:57030303-57030303

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2498G>C; p.R833P; 12:57030303-57030303

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2850T>G; p.D950E; 12:57029462-57029462

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.2080C>T; p.R694C; 12:57037067-57037067

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2211G>T; p.K737N; 12:57036835-57036835

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2067C>T; p.L689L; 12:57037080-57037080

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.424C>A; p.L142M; 12:57047309-57047309

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.424C>A; p.L142M; 12:57047309-57047309

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.424C>A; p.L142M; 12:57047309-57047309

 large_intestine; coloncarcinomaSubstitution - Missense

c.2135G>A; p.R712H; 12:57037012-57037012

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.424C>A; p.L142M; 12:57047309-57047309

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2067C>T; p.L689L; 12:57037080-57037080

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.594C>T; p.F198F; 12:57046598-57046598

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1024C>T; p.R342W; 12:57043146-57043146

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1054C>T; p.R352C; 12:57043116-57043116

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1428C>A; p.F476L; 12:57038914-57038914

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1475G>A; p.R492H; 12:57038867-57038867

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2452C>G; p.Q818E; 12:57031072-57031072

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.2283G>T; p.K761N; 12:57036373-57036373

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.3048C>T; p.V1016V; 12:57028839-57028839

 skinmalignant_melanomaSubstitution - coding silent

c.1110G>T; p.G370G; 12:57041486-57041486

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.2239G>A; p.V747M; 12:57036807-57036807

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1254G>A; p.E418E; 12:57041199-57041199

 breastcarcinomaSubstitution - coding silent

c.2710C>T; p.R904C; 12:57029754-57029754

 skinmalignant_melanomaSubstitution - Missense

c.2710C>T; p.R904C; 12:57029754-57029754

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.471C>T; p.S157S; 12:57047067-57047067

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1540T>C; p.Y514H; 12:57038632-57038632

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2238C>G; p.S746S; 12:57036808-57036808

 bone; tibiaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.2315C>T; p.A772V; 12:57036341-57036341

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.370A>G; p.K124E; 12:57047363-57047363

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.377A>G; p.E126G; 12:57047356-57047356

 breastcarcinomaSubstitution - Missense

c.2533A>G; p.R845G; 12:57030268-57030268

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2755G>A; p.G919S; 12:57029557-57029557

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3068G>A; p.G1023D; 12:57028819-57028819

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2376G>T; p.K792N; 12:57031148-57031148

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2900G>A; p.G967E; 12:57029237-57029237

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.726C>T; p.S242S; 12:57044124-57044124

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1404C>T; p.F468F; 12:57038938-57038938

 skin; armmalignant_melanomaSubstitution - coding silent

c.1961G>T; p.R654L; 12:57037869-57037869

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

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