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

Basic Information

Gene ID

5276

Name

SERPINI2

Synonymous

serpin peptidase inhibitor, clade I (pancpin), member 2;SERPINI2;serpin peptidase inhibitor, clade I (pancpin), member 2

Definition

myoepithelium-derived serine protease inhibitor|pancreas-specific protein TSA2004|peptidase inhibitor 14|protease inhibitor 14|serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2|serine (or cysteine) proteinase inhibitor, clade I (p

Position

3q26.1

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 0.10.

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.1068G>A; p.V356V; 3:167446465-167446465

 skinmalignant_melanomaSubstitution - coding silent

c.1174C>T; p.P392S; 3:167442153-167442153

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1090C>T; p.Q364*; 3:167446443-167446443

 pancreascarcinomaSubstitution - Nonsense

c.319C>T; p.L107F; 3:167467214-167467214

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.955G>A; p.G319R; 3:167452945-167452945

 skinmalignant_melanomaSubstitution - Missense

c.735A>C; p.E245D; 3:167465337-167465337

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.375T>C; p.H125H; 3:167467158-167467158

 breastcarcinomaSubstitution - coding silent

c.146C>T; p.P49L; 3:167471689-167471689

 skinmalignant_melanomaSubstitution - Missense

c.956G>A; p.G319E; 3:167452944-167452944

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.956G>A; p.G319E; 3:167452944-167452944

 skinmalignant_melanomaSubstitution - Missense

c.1030A>G; p.S344G; 3:167449337-167449337

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.252A>C; p.E84D; 3:167467281-167467281

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1088G>A; p.S363N; 3:167446445-167446445

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.467G>A; p.R156K; 3:167467066-167467066

 skin; upper_armmalignant_melanomaSubstitution - Missense

c.212T>C; p.I71T; 3:167471623-167471623

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.537G>T; p.L179L; 3:167465615-167465615

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.175G>T; p.V59L; 3:167471660-167471660

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.788A>G; p.E263G; 3:167465284-167465284

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.966T>C; p.D322D; 3:167449401-167449401

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.996G>A; p.T332T; 3:167449371-167449371

 livercarcinomaSubstitution - coding silent

c.1008C>T; p.F336F; 3:167449359-167449359

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.996G>A; p.T332T; 3:167449371-167449371

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.996G>A; p.T332T; 3:167449371-167449371

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.1158delG; p.G387fs*3; 3:167442169-167442169

 lungcarcinomaDeletion - Frameshift

c.434C>T; p.A145V; 3:167467099-167467099

 NSmalignant_melanomaSubstitution - Missense

c.443A>G; p.E148G; 3:167467090-167467090

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.945C>A; p.C315*; 3:167452955-167452955

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.727G>A; p.G243S; 3:167465345-167465345

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.867-1G>T; p.?; 3:167453034-167453034

 breastcarcinomaUnknown

c.209A>G; p.Q70R; 3:167471626-167471626

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.754C>T; p.L252F; 3:167465318-167465318

 skinmalignant_melanomaSubstitution - Missense

c.831G>A; p.E277E; 3:167465241-167465241

 skinmalignant_melanomaSubstitution - coding silent

c.645G>A; p.M215I; 3:167465507-167465507

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.222T>C; p.T74T; 3:167471613-167471613

 autonomic_ganglianeuroblastomaSubstitution - coding silent

c.667A>G; p.K223E; 3:167465485-167465485

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.59G>T; p.R20I; 3:167471776-167471776

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1008C>A; p.F336L; 3:167449359-167449359

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.648G>T; p.M216I; 3:167465504-167465504

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.43G>A; p.G15R; 3:167471792-167471792

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.386A>G; p.E129G; 3:167467147-167467147

 skinmalignant_melanomaSubstitution - Missense

c.70C>T; p.Q24*; 3:167471765-167471765

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.387A>G; p.E129E; 3:167467146-167467146

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.850G>A; p.E284K; 3:167465222-167465222

 skinmalignant_melanomaSubstitution - Missense

c.973G>A; p.E325K; 3:167449394-167449394

 skinmalignant_melanomaSubstitution - Missense

c.105A>G; p.Q35Q; 3:167471730-167471730

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.505G>A; p.E169K; 3:167465647-167465647

 skin; armmalignant_melanomaSubstitution - Missense

c.579C>T; p.F193F; 3:167465573-167465573

 skinmalignant_melanomaSubstitution - coding silent

c.1188G>A; p.E396E; 3:167442139-167442139

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.370C>G; p.L124V; 3:167467163-167467163

 breastcarcinomaSubstitution - Missense

c.623G>T; p.G208V; 3:167465529-167465529

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.646A>C; p.M216L; 3:167465506-167465506

 skinmalignant_melanomaSubstitution - Missense

c.575A>C; p.K192T; 3:167465577-167465577

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.328G>T; p.A110S; 3:167467205-167467205

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.905T>G; p.L302W; 3:167452995-167452995

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.965-7delT; p.?; 3:167449409-167449409

 stomachadenocarcinomaUnknown

c.421C>G; p.Q141E; 3:167467112-167467112

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.741C>T; p.S247S; 3:167465331-167465331

 skinmalignant_melanomaSubstitution - coding silent

c.253G>T; p.E85*; 3:167467280-167467280

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1033G>A; p.E345K; 3:167449334-167449334

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.54C>A; p.A18A; 3:167471781-167471781

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.945C>T; p.C315C; 3:167452955-167452955

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1211C>T; p.S404L; 3:167442116-167442116

 skinmalignant_melanomaSubstitution - Missense

c.278_279insT; p.S94fs*13; 3:167467254-167467255

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.759T>C; p.P253P; 3:167465313-167465313

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.113C>T; p.S38F; 3:167471722-167471722

 skinmalignant_melanomaSubstitution - Missense

c.925G>C; p.E309Q; 3:167452975-167452975

 skinmalignant_melanomaSubstitution - Missense

c.1184A>G; p.Q395R; 3:167442143-167442143

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.336C>T; p.Y112Y; 3:167467197-167467197

 skinmalignant_melanomaSubstitution - coding silent

c.684T>C; p.S228S; 3:167465388-167465388

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.575A>G; p.K192R; 3:167465577-167465577

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.763G>C; p.E255Q; 3:167465309-167465309

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1196G>A; p.G399E; 3:167442131-167442131

 skinmalignant_melanomaSubstitution - Missense

c.333C>T; p.L111L; 3:167467200-167467200

 skinmalignant_melanomaSubstitution - coding silent

c.106G>C; p.E36Q; 3:167471729-167471729

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.143C>T; p.S48L; 3:167471692-167471692

 skinmalignant_melanomaSubstitution - Missense

c.106G>C; p.E36Q; 3:167471729-167471729

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.77_78insA; p.N26fs*17; 3:167471757-167471758

 oesophaguscarcinoma; adenocarcinomaInsertion - Frameshift

c.430A>G; p.K144E; 3:167467103-167467103

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.309T>G; p.F103L; 3:167467224-167467224

 pancreascarcinomaSubstitution - Missense

c.70C>G; p.Q24E; 3:167471765-167471765

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1150C>A; p.L384M; 3:167442177-167442177

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.432G>T; p.K144N; 3:167467101-167467101

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.432G>T; p.K144N; 3:167467101-167467101

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.988C>A; p.Q330K; 3:167449379-167449379

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.114C>A; p.S38S; 3:167471721-167471721

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.712G>A; p.E238K; 3:167465360-167465360

 skinmalignant_melanomaSubstitution - Missense

c.12C>T; p.I4I; 3:167471823-167471823

 skinmalignant_melanomaSubstitution - coding silent

c.1097T>C; p.I366T; 3:167446436-167446436

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.871A>T; p.K291*; 3:167453029-167453029

 skinmalignant_melanomaSubstitution - Nonsense

c.969A>T; p.S323S; 3:167449398-167449398

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.117A>T; p.L39F; 3:167471718-167471718

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.658C>T; p.L220L; 3:167465494-167465494

 oesophaguscarcinomaSubstitution - coding silent

c.74A>C; p.K25T; 3:167471761-167471761

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.799A>C; p.T267P; 3:167465273-167465273

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.926A>T; p.E309V; 3:167452974-167452974

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.760G>C; p.A254P; 3:167465312-167465312

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.520C>G; p.L174V; 3:167465632-167465632

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.357G>A; p.V119V; 3:167467176-167467176

 skinmalignant_melanomaSubstitution - coding silent

c.520C>G; p.L174V; 3:167465632-167465632

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.147C>T; p.P49P; 3:167471688-167471688

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.146C>A; p.P49H; 3:167471689-167471689

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.171G>A; p.E57E; 3:167471664-167471664

 prostateadenomaSubstitution - coding silent

c.924C>T; p.T308T; 3:167452976-167452976

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.640C>T; p.P214S; 3:167465512-167465512

 skinmalignant_melanomaSubstitution - Missense

c.640C>T; p.P214S; 3:167465512-167465512

 NSmalignant_melanomaSubstitution - Missense

c.500C>T; p.S167L; 3:167465652-167465652

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.653C>A; p.A218D; 3:167465499-167465499

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.539T>G; p.V180G; 3:167465613-167465613

 breastcarcinomaSubstitution - Missense

c.539T>G; p.V180G; 3:167465613-167465613

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.633C>A; p.V211V; 3:167465519-167465519

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1114C>A; p.L372M; 3:167446419-167446419

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1043C>T; p.T348I; 3:167449324-167449324

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.887T>A; p.V296E; 3:167453013-167453013

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.877G>C; p.E293Q; 3:167453023-167453023

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1145C>T; p.S382L; 3:167442182-167442182

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.385G>A; p.E129K; 3:167467148-167467148

 skinmalignant_melanomaSubstitution - Missense

c.385G>A; p.E129K; 3:167467148-167467148

 skinmalignant_melanomaSubstitution - Missense

c.385G>A; p.E129K; 3:167467148-167467148

 skinmalignant_melanomaSubstitution - Missense

c.385G>A; p.E129K; 3:167467148-167467148

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1195G>A; p.G399R; 3:167442132-167442132

 skinmalignant_melanomaSubstitution - Missense

c.1195G>A; p.G399R; 3:167442132-167442132

 livercarcinomaSubstitution - Missense

c.946G>A; p.D316N; 3:167452954-167452954

 skinmalignant_melanomaSubstitution - Missense

c.1195G>A; p.G399R; 3:167442132-167442132

 livercarcinomaSubstitution - Missense

c.1062C>T; p.I354I; 3:167446471-167446471

 skinmalignant_melanomaSubstitution - coding silent

c.971C>T; p.S324F; 3:167449396-167449396

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.537G>A; p.L179L; 3:167465615-167465615

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.465A>G; p.E155E; 3:167467068-167467068

 skinmalignant_melanomaSubstitution - coding silent

c.304G>A; p.E102K; 3:167467229-167467229

 skinmalignant_melanomaSubstitution - Missense

c.304G>A; p.E102K; 3:167467229-167467229

 skinmalignant_melanomaSubstitution - Missense

c.1183C>T; p.Q395*; 3:167442144-167442144

 skin; trunkmalignant_melanomaSubstitution - Nonsense

c.1216T>C; p.*406R; 3:167442111-167442111

 stomachcarcinoma; adenocarcinomaNonstop extension

c.832A>G; p.M278V; 3:167465240-167465240

 ovaryother; neoplasmSubstitution - Missense

c.163G>A; p.V55I; 3:167471672-167471672

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.692C>T; p.S231F; 3:167465380-167465380

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.1135C>T; p.P379S; 3:167446398-167446398

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.193G>A; p.G65R; 3:167471642-167471642

 prostatecarcinomaSubstitution - Missense

c.1081G>T; p.A361S; 3:167446452-167446452

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1201G>A; p.D401N; 3:167442126-167442126

 skinmalignant_melanomaSubstitution - Missense

c.475G>T; p.D159Y; 3:167467058-167467058

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1135C>T; p.P379S; 3:167446398-167446398

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.103C>T; p.Q35*; 3:167471732-167471732

 skinmalignant_melanomaSubstitution - Nonsense

c.103C>T; p.Q35*; 3:167471732-167471732

 skinmalignant_melanomaSubstitution - Nonsense

c.573G>A; p.Q191Q; 3:167465579-167465579

 skinmalignant_melanomaSubstitution - coding silent

c.801T>A; p.T267T; 3:167465271-167465271

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1031G>A; p.S344N; 3:167449336-167449336

 ovaryother; neoplasmSubstitution - Missense

c.300_301insA; p.Q101fs*6; 3:167467232-167467233

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.228A>G; p.K76K; 3:167471607-167471607

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.620A>T; p.N207I; 3:167465532-167465532

 skinmalignant_melanomaSubstitution - Missense

c.77delA; p.N26fs*27; 3:167471758-167471758

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.72A>C; p.Q24H; 3:167471763-167471763

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.968C>T; p.S323L; 3:167449399-167449399

 skinmalignant_melanomaSubstitution - Missense

c.253G>A; p.E85K; 3:167467280-167467280

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.456C>A; p.T152T; 3:167467077-167467077

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.169G>A; p.E57K; 3:167471666-167471666

 skinmalignant_melanomaSubstitution - Missense

c.536T>C; p.L179P; 3:167465616-167465616

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.279C>T; p.F93F; 3:167467254-167467254

 skinmalignant_melanomaSubstitution - coding silent

c.537G>C; p.L179L; 3:167465615-167465615

 breastcarcinomaSubstitution - coding silent

c.121C>T; p.H41Y; 3:167471714-167471714

 skin; extremitymalignant_melanomaSubstitution - Missense

c.479G>A; p.G160E; 3:167465673-167465673

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1048A>G; p.T350A; 3:167449319-167449319

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.961A>G; p.T321A; 3:167452939-167452939

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.781G>A; p.E261K; 3:167465291-167465291

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.781G>A; p.E261K; 3:167465291-167465291

 skinmalignant_melanomaSubstitution - Missense

c.1108C>A; p.P370T; 3:167446425-167446425

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1052G>A; p.G351D; 3:167446481-167446481

 large_intestine; colonNSSubstitution - Missense

c.16T>G; p.L6V; 3:167471819-167471819

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.16T>G; p.L6V; 3:167471819-167471819

 thyroidother; neoplasmSubstitution - Missense

c.90A>T; p.A30A; 3:167471745-167471745

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.648G>A; p.M216I; 3:167465504-167465504

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.743delT; p.L248fs*1; 3:167465329-167465329

 lungcarcinoma; adenocarcinomaDeletion - Frameshift

c.745A>T; p.I249F; 3:167465327-167465327

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.82G>A; p.E28K; 3:167471753-167471753

 skinmalignant_melanomaSubstitution - Missense

c.82G>A; p.E28K; 3:167471753-167471753

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.82G>A; p.E28K; 3:167471753-167471753

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.787G>A; p.E263K; 3:167465285-167465285

 skinmalignant_melanomaSubstitution - Missense

c.787G>A; p.E263K; 3:167465285-167465285

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.218A>T; p.Q73L; 3:167471617-167471617

 oesophaguscarcinomaSubstitution - Missense

c.606T>G; p.N202K; 3:167465546-167465546

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

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