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

Basic Information

Gene ID

23336

Name

SYNM

Synonymous

synemin, intermediate filament protein;SYNM;synemin, intermediate filament protein

Definition

desmuslin|synemin|synemin alpha|synemin beta

Position

15q26.3

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 0.20.

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.408G>A; p.R136R; 15:99105607-99105607

thyroidother; neoplasmSubstitution - coding silent

c.3104G>A; p.R1035Q; 15:99131467-99131467

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; Burkitt_lymphomaSubstitution - Missense

c.1547G>A; p.R516Q; 15:99129910-99129910

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1547G>A; p.R516Q; 15:99129910-99129910

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1414C>T; p.R472W; 15:99129777-99129777

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2649C>A; p.G883G; 15:99131012-99131012

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1547G>A; p.R516Q; 15:99129910-99129910

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1616A>G; p.E539G; 15:99129979-99129979

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3197G>T; p.R1066L; 15:99131560-99131560

pancreascarcinomaSubstitution - Missense

c.3197G>T; p.R1066L; 15:99131560-99131560

pancreascarcinomaSubstitution - Missense

c.2511delC; p.H841fs*47; 15:99130874-99130874

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2404C>T; p.R802*; 15:99130767-99130767

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1252G>A; p.V418I; 15:99129615-99129615

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1483C>G; p.L495V; 15:99129846-99129846

urinary_tract; bladdercarcinomaSubstitution - Missense

c.2333G>A; p.G778D; 15:99130696-99130696

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1847G>A; p.R616Q; 15:99130210-99130210

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2827G>A; p.E943K; 15:99131190-99131190

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2961G>A; p.K987K; 15:99131324-99131324

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2961G>A; p.K987K; 15:99131324-99131324

upper_aerodigestive_tract; mouthcarcinomaSubstitution - coding silent

c.2463T>G; p.G821G; 15:99130826-99130826

breastcarcinomaSubstitution - coding silent

c.1409C>T; p.S470L; 15:99129772-99129772

skinmalignant_melanomaSubstitution - Missense

c.3451-7C>T; p.?; 15:99132743-99132743

skinmalignant_melanomaUnknown

c.1020C>A; p.S340S; 15:99129383-99129383

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1710C>A; p.S570R; 15:99130073-99130073

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.2094C>T; p.S698S; 15:99130457-99130457

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2476G>A; p.E826K; 15:99130839-99130839

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3611G>A; p.R1204K; 15:99132910-99132910

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2268C>T; p.S756S; 15:99130631-99130631

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2470G>A; p.E824K; 15:99130833-99130833

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3606C>A; p.A1202A; 15:99132905-99132905

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1259G>A; p.S420N; 15:99129622-99129622

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.969G>A; p.V323V; 15:99126758-99126758

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.3192T>C; p.F1064F; 15:99131555-99131555

thyroidother; neoplasmSubstitution - coding silent

c.1512G>A; p.T504T; 15:99129875-99129875

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2682G>A; p.A894A; 15:99131045-99131045

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1248A>T; p.K416N; 15:99129611-99129611

skinmalignant_melanomaSubstitution - Missense

c.3540G>A; p.A1180A; 15:99132839-99132839

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1248A>T; p.K416N; 15:99129611-99129611

skinmalignant_melanomaSubstitution - Missense

c.2881G>A; p.E961K; 15:99131244-99131244

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1343C>A; p.P448Q; 15:99129706-99129706

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2421T>C; p.P807P; 15:99130784-99130784

thyroidother; neoplasmSubstitution - coding silent

c.1752G>T; p.Q584H; 15:99130115-99130115

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2773G>T; p.E925*; 15:99131136-99131136

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.2542G>A; p.V848M; 15:99130905-99130905

skinmalignant_melanomaSubstitution - Missense

c.854C>T; p.A285V; 15:99113637-99113637

livercarcinomaSubstitution - Missense

c.854C>T; p.A285V; 15:99113637-99113637

livercarcinomaSubstitution - Missense

c.2328G>A; p.S776S; 15:99130691-99130691

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2253C>A; p.P751P; 15:99130616-99130616

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelofibrosisSubstitution - coding silent

c.3227C>T; p.S1076L; 15:99131590-99131590

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1109G>A; p.S370N; 15:99129472-99129472

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1819G>A; p.G607S; 15:99130182-99130182

ovaryother; neoplasmSubstitution - Missense

c.1819G>A; p.G607S; 15:99130182-99130182

ovaryother; neoplasmSubstitution - Missense

c.1937T>G; p.L646R; 15:99130300-99130300

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2888T>C; p.M963T; 15:99131251-99131251

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2681C>T; p.A894V; 15:99131044-99131044

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2339delG; p.L782fs*36; 15:99130702-99130702

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.998C>G; p.P333R; 15:99126787-99126787

breastcarcinomaSubstitution - Missense

c.2215A>G; p.R739G; 15:99130578-99130578

oesophaguscarcinomaSubstitution - Missense

c.2283G>T; p.E761D; 15:99130646-99130646

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1738C>T; p.L580L; 15:99130101-99130101

skinmalignant_melanomaSubstitution - coding silent

c.89G>A; p.R30Q; 15:99105288-99105288

breastcarcinomaSubstitution - Missense

c.1053A>C; p.E351D; 15:99129416-99129416

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1593C>T; p.S531S; 15:99129956-99129956

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.2377G>A; p.D793N; 15:99130740-99130740

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.641G>T; p.R214L; 15:99105840-99105840

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1592C>T; p.S531F; 15:99129955-99129955

skinmalignant_melanomaSubstitution - Missense

c.3613G>T; p.E1205*; 15:99132912-99132912

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1511C>T; p.T504M; 15:99129874-99129874

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1477G>A; p.V493I; 15:99129840-99129840

central_nervous_system; braingliomaSubstitution - Missense

c.1487G>A; p.G496E; 15:99129850-99129850

breastcarcinomaSubstitution - Missense

c.1714_1715insGA; p.V576fs*6; 15:99130077-99130078

endometriumcarcinoma; endometrioid_carcinomaInsertion - Frameshift

c.1550C>T; p.T517I; 15:99129913-99129913

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3733G>A; p.E1245K; 15:99133032-99133032

skin; trunkmalignant_melanomaSubstitution - Missense

c.757G>C; p.A253P; 15:99105959-99105959

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3160G>A; p.G1054R; 15:99131523-99131523

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1818C>T; p.T606T; 15:99130181-99130181

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1818C>T; p.T606T; 15:99130181-99130181

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3383T>G; p.L1128R; 15:99131746-99131746

livercarcinomaSubstitution - Missense

c.3383T>G; p.L1128R; 15:99131746-99131746

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.3080A>T; p.E1027V; 15:99131443-99131443

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2938A>G; p.S980G; 15:99131301-99131301

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2580C>G; p.I860M; 15:99130943-99130943

breastcarcinomaSubstitution - Missense

c.3539C>T; p.A1180V; 15:99132838-99132838

central_nervous_system; braingliomaSubstitution - Missense

c.1136G>T; p.G379V; 15:99129499-99129499

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3132A>G; p.P1044P; 15:99131495-99131495

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1908C>T; p.T636T; 15:99130271-99130271

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1814G>A; p.G605E; 15:99130177-99130177

breastcarcinomaSubstitution - Missense

c.3497C>T; p.A1166V; 15:99132796-99132796

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1277C>A; p.T426N; 15:99129640-99129640

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2008G>A; p.V670M; 15:99130371-99130371

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1140C>A; p.H380Q; 15:99129503-99129503

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2637C>T; p.D879D; 15:99131000-99131000

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.3590G>T; p.G1197V; 15:99132889-99132889

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.1168G>A; p.G390R; 15:99129531-99129531

skinmalignant_melanomaSubstitution - Missense

c.2752G>T; p.E918*; 15:99131115-99131115

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.2711C>T; p.T904I; 15:99131074-99131074

skin; trunkmalignant_melanomaSubstitution - Missense

c.1598A>T; p.E533V; 15:99129961-99129961

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.3678G>A; p.R1226R; 15:99132977-99132977

breastcarcinomaSubstitution - coding silent

c.2768delA; p.E925fs*12; 15:99131131-99131131

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1572C>T; p.F524F; 15:99129935-99129935

skinmalignant_melanomaSubstitution - coding silent

c.1650G>A; p.Q550Q; 15:99130013-99130013

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1572C>T; p.F524F; 15:99129935-99129935

skinmalignant_melanomaSubstitution - coding silent

c.932+1G>A; p.?; 15:99113716-99113716

endometriumcarcinoma; endometrioid_carcinomaUnknown

c.1173T>G; p.G391G; 15:99129536-99129536

skinmalignant_melanomaSubstitution - coding silent

c.1776G>A; p.P592P; 15:99130139-99130139

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.949G>T; p.E317*; 15:99126738-99126738

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.465_466delGC; p.A159fs*114; 15:99105664-99105665

stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.1797G>A; p.V599V; 15:99130160-99130160

skinmalignant_melanomaSubstitution - coding silent

c.1715G>A; p.R572Q; 15:99130078-99130078

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.3591G>T; p.G1197G; 15:99132890-99132890

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1715G>A; p.R572Q; 15:99130078-99130078

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.897G>A; p.V299V; 15:99113680-99113680

oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2847G>A; p.V949V; 15:99131210-99131210

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1125T>C; p.S375S; 15:99129488-99129488

livercarcinomaSubstitution - coding silent

c.3110G>C; p.S1037T; 15:99131473-99131473

eye; uveal_tractmalignant_melanoma; mixedSubstitution - Missense

c.2145G>A; p.G715G; 15:99130508-99130508

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.702_702+1insG; p.A235fs*39; 15:99105903-99105903

large_intestine; caecumcarcinoma; adenocarcinomaUnknown

c.702_702+1insG; p.A235fs*39; 15:99105903-99105903

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.702_702+1insG; p.A235fs*39; 15:99105903-99105903

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.1362G>T; p.R454S; 15:99129725-99129725

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.702_702+1insG; p.A235fs*39; 15:99105903-99105903

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.702_702+1insG; p.A235fs*39; 15:99105903-99105903

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.702_702+1insG; p.A235fs*39; 15:99105903-99105903

large_intestine; rectumcarcinoma; adenocarcinomaUnknown

c.702_702+1insG; p.A235fs*39; 15:99105903-99105903

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.702_702+1insG; p.A235fs*39; 15:99105903-99105903

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.702_702+1insG; p.A235fs*39; 15:99105903-99105903

large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.2791G>A; p.E931K; 15:99131154-99131154

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2385A>G; p.T795T; 15:99130748-99130748

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.562G>A; p.A188T; 15:99105761-99105761

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3524G>T; p.G1175V; 15:99132823-99132823

central_nervous_system; braingliomaSubstitution - Missense

c.1199C>T; p.S400L; 15:99129562-99129562

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1060A>T; p.R354W; 15:99129423-99129423

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.3413G>A; p.R1138Q; 15:99131776-99131776

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1715_1716delGA; p.E575fs*4; 15:99130078-99130079

endometriumcarcinoma; endometrioid_carcinomaDeletion - Frameshift

c.1715_1716delGA; p.E575fs*4; 15:99130078-99130079

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1715_1716delGA; p.E575fs*4; 15:99130078-99130079

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.3689C>T; p.S1230L; 15:99132988-99132988

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.745C>T; p.R249W; 15:99105947-99105947

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2524G>A; p.D842N; 15:99130887-99130887

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3010G>A; p.V1004I; 15:99131373-99131373

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2284G>A; p.E762K; 15:99130647-99130647

breastcarcinomaSubstitution - Missense

c.2433G>A; p.T811T; 15:99130796-99130796

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.3010G>A; p.V1004I; 15:99131373-99131373

kidneyother; neoplasmSubstitution - Missense

c.61C>T; p.R21W; 15:99105260-99105260

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.910_912delAGT; p.S304delS; 15:99113693-99113695

ovarycarcinoma; serous_carcinomaDeletion - In frame

c.3151G>T; p.E1051*; 15:99131514-99131514

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.2868G>T; p.E956D; 15:99131231-99131231

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2124C>T; p.S708S; 15:99130487-99130487

livercarcinomaSubstitution - coding silent

c.2124C>T; p.S708S; 15:99130487-99130487

livercarcinomaSubstitution - coding silent

c.3275G>A; p.R1092H; 15:99131638-99131638

livercarcinomaSubstitution - Missense

c.2416C>T; p.Q806*; 15:99130779-99130779

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.2562C>T; p.I854I; 15:99130925-99130925

skinmalignant_melanomaSubstitution - coding silent

c.2651_2653delAGA; p.K885delK; 15:99131014-99131016

adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningDeletion - In frame

c.1711G>A; p.V571M; 15:99130074-99130074

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; polycythaemia_veraSubstitution - Missense

c.2791G>T; p.E931*; 15:99131154-99131154

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.2791G>T; p.E931*; 15:99131154-99131154

breastcarcinomaSubstitution - Nonsense

c.2030G>A; p.G677E; 15:99130393-99130393

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2030G>A; p.G677E; 15:99130393-99130393

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3173C>T; p.P1058L; 15:99131536-99131536

thyroidother; neoplasmSubstitution - Missense

c.1820_1821GT>AA; p.G607>?; 15:99130183-99130184

NSmalignant_melanomaComplex

c.3726T>C; p.N1242N; 15:99133025-99133025

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.876C>T; p.D292D; 15:99113659-99113659

ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.1750C>A; p.Q584K; 15:99130113-99130113

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1404C>T; p.R468R; 15:99129767-99129767

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.633G>C; p.E211D; 15:99105832-99105832

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1931G>A; p.S644N; 15:99130294-99130294

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1817C>T; p.T606I; 15:99130180-99130180

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.3012C>G; p.V1004V; 15:99131375-99131375

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2028T>C; p.P676P; 15:99130391-99130391

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3274C>T; p.R1092C; 15:99131637-99131637

prostatecarcinomaSubstitution - Missense

c.1690G>A; p.D564N; 15:99130053-99130053

skinmalignant_melanomaSubstitution - Missense

c.2986G>A; p.V996M; 15:99131349-99131349

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2191C>A; p.L731I; 15:99130554-99130554

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1969G>T; p.A657S; 15:99130332-99130332

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3628C>A; p.Q1210K; 15:99132927-99132927

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1706A>T; p.K569M; 15:99130069-99130069

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.3628C>A; p.Q1210K; 15:99132927-99132927

upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.1103A>G; p.N368S; 15:99129466-99129466

livercarcinomaSubstitution - Missense

c.1103A>G; p.N368S; 15:99129466-99129466

livercarcinomaSubstitution - Missense

c.3349G>C; p.E1117Q; 15:99131712-99131712

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2752G>A; p.E918K; 15:99131115-99131115

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2752G>A; p.E918K; 15:99131115-99131115

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2752G>A; p.E918K; 15:99131115-99131115

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1200G>A; p.S400S; 15:99129563-99129563

ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.1806T>C; p.A602A; 15:99130169-99130169

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.905G>A; p.G302D; 15:99113688-99113688

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1791G>A; p.T597T; 15:99130154-99130154

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1728G>A; p.V576V; 15:99130091-99130091

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.891G>A; p.L297L; 15:99113674-99113674

livercarcinomaSubstitution - coding silent


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