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

Basic Information

Gene ID

8313

Name

AXIN2

Synonymous

axin 2;AXIN2;axin 2

Definition

axin-2|axin-like protein|axis inhibition protein 2|conductin

Position

17q24.1

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 0.21.

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.205G>A; p.A69T; 17:65558416-65558416

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1329G>A; p.L443L; 17:65537707-65537707

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1329G>A; p.L443L; 17:65537707-65537707

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - coding silent

c.1901C>T; p.P634L; 17:65536875-65536875

 skinmalignant_melanomaSubstitution - Missense

c.2072C>T; p.P691L; 17:65536389-65536389

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2455G>C; p.E819Q; 17:65530053-65530053

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1901C>T; p.P634L; 17:65536875-65536875

 skinmalignant_melanomaSubstitution - Missense

c.288_289delAA; p.T97fs*43; 17:65558332-65558333

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1201-1_1201GG>AA; p.?; 17:65537835-65537836

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.1249delG; p.A417fs*41; 17:65537787-65537787

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1994_1995insG; p.N666fs*41; 17:65536466-65536467

 large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.1994_1995insG; p.N666fs*41; 17:65536466-65536467

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1994_1995insG; p.N666fs*41; 17:65536466-65536467

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1994_1995insG; p.N666fs*41; 17:65536466-65536467

 skin; hipmalignant_melanomaInsertion - Frameshift

c.1016G>A; p.R339H; 17:65541498-65541498

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1016G>A; p.R339H; 17:65541498-65541498

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.514G>C; p.D172H; 17:65558107-65558107

 breastcarcinomaSubstitution - Missense

c.2213C>T; p.S738F; 17:65535650-65535650

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.572delT; p.L191fs*1; 17:65558049-65558049

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1341C>G; p.L447L; 17:65537695-65537695

 breastcarcinomaSubstitution - coding silent

c.10G>T; p.A4S; 17:65558611-65558611

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.828G>A; p.R276R; 17:65549648-65549648

 pancreascarcinomaSubstitution - coding silent

c.2201C>T; p.A734V; 17:65535662-65535662

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1196G>A; p.R399Q; 17:65538207-65538207

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2023C>T; p.R675C; 17:65536438-65536438

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.68G>A; p.R23Q; 17:65558553-65558553

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.68G>A; p.R23Q; 17:65558553-65558553

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2273C>T; p.A758V; 17:65534044-65534044

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2106C>A; p.R702R; 17:65536355-65536355

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.2273C>T; p.A758V; 17:65534044-65534044

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2331C>A; p.Y777*; 17:65533986-65533986

 thyroidcarcinoma; anaplastic_carcinomaSubstitution - Nonsense

c.2140C>T; p.R714W; 17:65536321-65536321

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2272G>A; p.A758T; 17:65534045-65534045

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1485C>T; p.G495G; 17:65537551-65537551

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.1659G>A; p.S553S; 17:65537377-65537377

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2500C>T; p.R834W; 17:65530008-65530008

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2500C>T; p.R834W; 17:65530008-65530008

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.306G>C; p.E102D; 17:65558315-65558315

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.360G>T; p.M120I; 17:65558261-65558261

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.824A>G; p.K275R; 17:65549652-65549652

 skinmalignant_melanomaSubstitution - Missense

c.1240C>T; p.R414W; 17:65537796-65537796

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2084C>T; p.A695V; 17:65536377-65536377

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.888C>T; p.S296S; 17:65549588-65549588

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1975C>T; p.R659W; 17:65536486-65536486

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1975C>T; p.R659W; 17:65536486-65536486

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1092C>T; p.P364P; 17:65538311-65538311

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.79C>T; p.P27S; 17:65558542-65558542

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1612C>T; p.R538W; 17:65537424-65537424

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.274G>A; p.A92T; 17:65558347-65558347

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.52C>T; p.R18C; 17:65558569-65558569

 breastcarcinomaSubstitution - Missense

c.2422_2423insA; p.A808fs*4; 17:65530085-65530086

 stomachadenocarcinomaInsertion - Frameshift

c.863G>A; p.G288D; 17:65549613-65549613

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1994delG; p.G665fs*24; 17:65536467-65536467

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1994delG; p.G665fs*24; 17:65536467-65536467

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1994delG; p.G665fs*24; 17:65536467-65536467

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1994delG; p.G665fs*24; 17:65536467-65536467

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1994delG; p.G665fs*24; 17:65536467-65536467

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1994delG; p.G665fs*24; 17:65536467-65536467

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1994delG; p.G665fs*24; 17:65536467-65536467

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1994delG; p.G665fs*24; 17:65536467-65536467

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1994delG; p.G665fs*24; 17:65536467-65536467

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1994delG; p.G665fs*24; 17:65536467-65536467

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1994delG; p.G665fs*24; 17:65536467-65536467

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1994delG; p.G665fs*24; 17:65536467-65536467

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1150G>C; p.E384Q; 17:65538253-65538253

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1994delG; p.G665fs*24; 17:65536467-65536467

 skin; head_neckcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.435C>T; p.V145V; 17:65558186-65558186

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.435C>T; p.V145V; 17:65558186-65558186

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.563A>C; p.Q188P; 17:65558058-65558058

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1039G>T; p.V347L; 17:65541475-65541475

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1102G>C; p.A368P; 17:65538301-65538301

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2018C>A; p.T673N; 17:65536443-65536443

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2083G>C; p.A695P; 17:65536378-65536378

 ovaryother; neoplasmSubstitution - Missense

c.2312G>A; p.C771Y; 17:65534005-65534005

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.646G>A; p.G216R; 17:65557975-65557975

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.468C>A; p.Y156*; 17:65558153-65558153

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2086C>T; p.Q696*; 17:65536375-65536375

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.278A>T; p.Y93F; 17:65558343-65558343

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.240G>A; p.K80K; 17:65558381-65558381

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.229C>T; p.R77W; 17:65558392-65558392

 thyroidcarcinomaSubstitution - Missense

c.1424C>T; p.S475L; 17:65537612-65537612

 skinmalignant_melanomaSubstitution - Missense

c.1637G>A; p.G546D; 17:65537399-65537399

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.887G>A; p.S296N; 17:65549589-65549589

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.67C>T; p.R23W; 17:65558554-65558554

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.764_765insT; p.R256fs*13; 17:65557856-65557857

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.196G>A; p.E66K; 17:65558425-65558425

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2269C>T; p.H757Y; 17:65534048-65534048

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2428G>A; p.D810N; 17:65530080-65530080

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1814C>T; p.A605V; 17:65536962-65536962

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.671A>G; p.Y224C; 17:65557950-65557950

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1532C>T; p.T511M; 17:65537504-65537504

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.760A>G; p.T254A; 17:65557861-65557861

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1848G>A; p.S616S; 17:65536928-65536928

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1656C>T; p.Y552Y; 17:65537380-65537380

 central_nervous_system; braingliomaSubstitution - coding silent

c.1500C>T; p.L500L; 17:65537536-65537536

 skinmalignant_melanomaSubstitution - coding silent

c.1215G>T; p.E405D; 17:65537821-65537821

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1365A>G; p.P455P; 17:65537671-65537671

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.132G>A; p.Q44Q; 17:65558489-65558489

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2347G>T; p.A783S; 17:65533970-65533970

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.550G>T; p.E184*; 17:65558071-65558071

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1386C>T; p.P462P; 17:65537650-65537650

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1386C>T; p.P462P; 17:65537650-65537650

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1386C>T; p.P462P; 17:65537650-65537650

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1386C>T; p.P462P; 17:65537650-65537650

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1386C>T; p.P462P; 17:65537650-65537650

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1386C>T; p.P462P; 17:65537650-65537650

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1386C>T; p.P462P; 17:65537650-65537650

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.493C>T; p.Q165*; 17:65558128-65558128

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.765G>C; p.L255L; 17:65557856-65557856

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.2486C>T; p.P829L; 17:65530022-65530022

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1030A>T; p.N344Y; 17:65541484-65541484

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.243C>T; p.S81S; 17:65558378-65558378

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1495_1496insC; p.L499fs*129; 17:65537540-65537541

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.849delT; p.H284fs*2; 17:65549627-65549627

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1214_1215delAG; p.E405fs*56; 17:65537821-65537822

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1214_1215delAG; p.E405fs*56; 17:65537821-65537822

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2062C>T; p.L688L; 17:65536399-65536399

 thyroidother; neoplasmSubstitution - coding silent

c.1302C>A; p.D434E; 17:65537734-65537734

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.88G>A; p.E30K; 17:65558533-65558533

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2415C>A; p.F805L; 17:65530093-65530093

 pancreascarcinomaSubstitution - Missense

c.1304C>T; p.P435L; 17:65537732-65537732

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2415C>A; p.F805L; 17:65530093-65530093

 pancreascarcinomaSubstitution - Missense

c.2415C>A; p.F805L; 17:65530093-65530093

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.525G>A; p.Q175Q; 17:65558096-65558096

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.525G>A; p.Q175Q; 17:65558096-65558096

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2409T>C; p.Y803Y; 17:65530099-65530099

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1533G>A; p.T511T; 17:65537503-65537503

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.142C>G; p.P48A; 17:65558479-65558479

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.1889G>A; p.S630N; 17:65536887-65536887

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1225C>T; p.L409F; 17:65537811-65537811

 skinmalignant_melanomaSubstitution - Missense

c.2051C>T; p.A684V; 17:65536410-65536410

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1238C>T; p.S413L; 17:65537798-65537798

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2012G>A; p.R671H; 17:65536449-65536449

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.270C>T; p.D90D; 17:65558351-65558351

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - coding silent

c.270C>T; p.D90D; 17:65558351-65558351

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.270C>T; p.D90D; 17:65558351-65558351

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.833A>C; p.D278A; 17:65549643-65549643

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.944C>T; p.T315M; 17:65549532-65549532

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1394G>A; p.R465H; 17:65537642-65537642

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.319A>G; p.T107A; 17:65558302-65558302

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.199G>A; p.G67R; 17:65558422-65558422

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.1788_1789AG>TA; p.E596_G597>DR; 17:65536987-65536988

 skin; head_neckcarcinoma; squamous_cell_carcinomaComplex - compound substitution

c.1873G>A; p.E625K; 17:65536903-65536903

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1001A>G; p.Q334R; 17:65541513-65541513

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1725C>T; p.G575G; 17:65537051-65537051

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2522G>A; p.R841Q; 17:65529986-65529986

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.306G>A; p.E102E; 17:65558315-65558315

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.341G>T; p.C114F; 17:65558280-65558280

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.994C>A; p.Q332K; 17:65541520-65541520

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2174A>G; p.N725S; 17:65535689-65535689

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1478C>T; p.S493L; 17:65537558-65537558

 breastcarcinomaSubstitution - Missense

c.194C>T; p.P65L; 17:65558427-65558427

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.194C>T; p.P65L; 17:65558427-65558427

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2277C>G; p.L759L; 17:65534040-65534040

 livercarcinomaSubstitution - coding silent

c.1251G>T; p.A417A; 17:65537785-65537785

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.739_758del20; p.V247fs*15; 17:65557863-65557882

 prostatecarcinomaDeletion - Frameshift

c.330C>A; p.F110L; 17:65558291-65558291

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2011C>T; p.R671C; 17:65536450-65536450

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.2011C>T; p.R671C; 17:65536450-65536450

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

c.386G>T; p.R129L; 17:65558235-65558235

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1840G>C; p.D614H; 17:65536936-65536936

 breastcarcinomaSubstitution - Missense

c.850C>T; p.H284Y; 17:65549626-65549626

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2526C>T; p.I842I; 17:65529982-65529982

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1466C>T; p.P489L; 17:65537570-65537570

 skinmalignant_melanomaSubstitution - Missense

c.76G>A; p.V26M; 17:65558545-65558545

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1667A>G; p.K556R; 17:65537369-65537369

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1091C>T; p.P364L; 17:65538312-65538312

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.530A>C; p.E177A; 17:65558091-65558091

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.542T>C; p.V181A; 17:65558079-65558079

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.729T>C; p.L243L; 17:65557892-65557892

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2427C>G; p.S809R; 17:65530081-65530081

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1825C>T; p.P609S; 17:65536951-65536951

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.3_4insTG; p.S2fs*1; 17:65558617-65558618

 large_intestine; rectumcarcinoma; adenocarcinomaInsertion - Frameshift

c.1795delG; p.A599fs*90; 17:65536981-65536981

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.2026G>A; p.A676T; 17:65536435-65536435

 ovaryother; neoplasmSubstitution - Missense

c.2195C>T; p.T732M; 17:65535668-65535668

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.357G>T; p.Q119H; 17:65558264-65558264

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.831C>T; p.S277S; 17:65549645-65549645

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.591C>G; p.L197L; 17:65558030-65558030

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.331delT; p.W111fs*10; 17:65558290-65558290

 large_intestine; rectumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1829G>T; p.R610L; 17:65536947-65536947

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.866A>G; p.Y289C; 17:65549610-65549610

 skinmalignant_melanomaSubstitution - Missense

c.119T>G; p.V40G; 17:65558502-65558502

 breastcarcinomaSubstitution - Missense

c.135C>T; p.V45V; 17:65558486-65558486

 oesophaguscarcinomaSubstitution - coding silent

c.1497C>T; p.L499L; 17:65537539-65537539

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.148C>T; p.P50S; 17:65558473-65558473

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1901C>G; p.P634R; 17:65536875-65536875

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.287G>A; p.R96Q; 17:65558334-65558334

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1569C>T; p.A523A; 17:65537467-65537467

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.368A>C; p.K123T; 17:65558253-65558253

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2078C>T; p.T693M; 17:65536383-65536383

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.2062delC; p.L688fs*1; 17:65536399-65536399

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2062delC; p.L688fs*1; 17:65536399-65536399

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1437C>T; p.S479S; 17:65537599-65537599

 breastcarcinomaSubstitution - coding silent

c.404A>G; p.Y135C; 17:65558217-65558217

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.970C>T; p.P324S; 17:65541544-65541544

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1593C>T; p.I531I; 17:65537443-65537443

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1002G>C; p.Q334H; 17:65541512-65541512

 skinmalignant_melanomaSubstitution - Missense

c.1002G>C; p.Q334H; 17:65541512-65541512

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1807G>C; p.A603P; 17:65536969-65536969

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1646A>G; p.Y549C; 17:65537390-65537390

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.158C>G; p.S53C; 17:65558463-65558463

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1925delA; p.K642fs*47; 17:65536536-65536536

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.791C>T; p.T264M; 17:65557830-65557830

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1044_1045insT; p.L349fs*25; 17:65541469-65541470

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.2438C>T; p.A813V; 17:65530070-65530070

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.261C>T; p.G87G; 17:65558360-65558360

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

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