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

Basic Information

Gene ID

253559

Name

CADM2

Synonymous

cell adhesion molecule 2;CADM2;cell adhesion molecule 2

Definition

immunoglobulin superfamily member 4D|immunoglobulin superfamily, member 4D|nectin-like 3|nectin-like protein 3|synaptic cell adhesion molecule 2

Position

3p12.1

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 0.07.

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.379G>A; p.E127K; 3:85886198-85886198

 skinmalignant_melanomaSubstitution - Missense

c.674T>C; p.I225T; 3:85912538-85912538

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.925G>A; p.A309T; 3:85961623-85961623

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.824G>A; p.R275Q; 3:85961522-85961522

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.817C>T; p.P273S; 3:85961515-85961515

 skinmalignant_melanomaSubstitution - Missense

c.918A>T; p.Q306H; 3:85961616-85961616

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.542G>T; p.R181L; 3:85912406-85912406

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.761G>A; p.G254E; 3:85935848-85935848

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.761G>A; p.G254E; 3:85935848-85935848

 skinmalignant_melanomaSubstitution - Missense

c.761G>A; p.G254E; 3:85935848-85935848

 skinmalignant_melanomaSubstitution - Missense

c.689C>G; p.S230*; 3:85935776-85935776

 central_nervous_system; braingliomaSubstitution - Nonsense

c.1195G>A; p.G399R; 3:86065730-86065730

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.542G>A; p.R181H; 3:85912406-85912406

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.985C>T; p.P329S; 3:85979199-85979199

 skin; upper_backmalignant_melanomaSubstitution - Missense

c.946C>T; p.H316Y; 3:85961644-85961644

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.203T>C; p.F68S; 3:85802182-85802182

 pancreascarcinomaSubstitution - Missense

c.734C>T; p.P245L; 3:85935821-85935821

 skinmalignant_melanomaSubstitution - Missense

c.1244C>T; p.A415V; 3:86066713-86066713

 skinmalignant_melanomaSubstitution - Missense

c.1244C>T; p.A415V; 3:86066713-86066713

 skinmalignant_melanomaSubstitution - Missense

c.563G>A; p.S188N; 3:85912427-85912427

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.111T>A; p.V37V; 3:85802090-85802090

 pancreascarcinomaSubstitution - coding silent

c.802G>A; p.G268R; 3:85961500-85961500

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.802G>A; p.G268R; 3:85961500-85961500

 skinmalignant_melanomaSubstitution - Missense

c.1097G>A; p.G366D; 3:86065632-86065632

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.29C>T; p.S10F; 3:85726510-85726510

 skinmalignant_melanomaSubstitution - Missense

c.955C>T; p.P319S; 3:85979169-85979169

 skin; extremitymalignant_melanomaSubstitution - Missense

c.955C>T; p.P319S; 3:85979169-85979169

 skin; trunkmalignant_melanomaSubstitution - Missense

c.260A>T; p.H87L; 3:85883333-85883333

 pancreascarcinomaSubstitution - Missense

c.68-7C>T; p.?; 3:85802040-85802040

 ovaryother; neoplasmUnknown

c.1195+1G>A; p.?; 3:86065731-86065731

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.1275C>T; p.S425S; 3:86066744-86066744

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.460A>G; p.K154E; 3:85886279-85886279

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.781G>C; p.V261L; 3:85961479-85961479

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.147T>G; p.D49E; 3:85802126-85802126

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1294delA; p.E434fs*>4; 3:86066763-86066763

 kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - Frameshift

c.843G>A; p.R281R; 3:85961541-85961541

 skinmalignant_melanomaSubstitution - coding silent

c.1090C>G; p.Q364E; 3:86065625-86065625

 salivary_glandcarcinoma; adenoid_cystic_carcinomaSubstitution - Missense

c.184G>A; p.A62T; 3:85802163-85802163

 skinmalignant_melanomaSubstitution - Missense

c.1109C>T; p.A370V; 3:86065644-86065644

 skinmalignant_melanomaSubstitution - Missense

c.598G>A; p.G200R; 3:85912462-85912462

 skinmalignant_melanomaSubstitution - Missense

c.577C>T; p.R193*; 3:85912441-85912441

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.254C>T; p.S85F; 3:85883327-85883327

 skinmalignant_melanomaSubstitution - Missense

c.934G>A; p.V312I; 3:85961632-85961632

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelofibrosisSubstitution - Missense

c.1096G>T; p.G366C; 3:86065631-86065631

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1254C>A; p.A418A; 3:86066723-86066723

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.482G>T; p.W161L; 3:85886301-85886301

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.934G>A; p.V312I; 3:85961632-85961632

 skinmalignant_melanomaSubstitution - Missense

c.887A>G; p.Y296C; 3:85961585-85961585

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.529G>A; p.E177K; 3:85912393-85912393

 skinmalignant_melanomaSubstitution - Missense

c.250G>C; p.A84P; 3:85883323-85883323

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.178A>T; p.N60Y; 3:85802157-85802157

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.385C>T; p.P129S; 3:85886204-85886204

 skinmalignant_melanomaSubstitution - Missense

c.422G>A; p.G141D; 3:85886241-85886241

 skinmalignant_melanomaSubstitution - Missense

c.838G>C; p.G280R; 3:85961536-85961536

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1118G>C; p.G373A; 3:86065653-86065653

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.939C>T; p.L313L; 3:85961637-85961637

 skinmalignant_melanomaSubstitution - coding silent

c.632C>T; p.S211F; 3:85912496-85912496

 skinmalignant_melanomaSubstitution - Missense

c.926C>T; p.A309V; 3:85961624-85961624

 oesophaguscarcinomaSubstitution - Missense

c.950-2A>G; p.?; 3:85979162-85979162

 stomachcarcinoma; adenocarcinomaUnknown

c.444C>T; p.C148C; 3:85886263-85886263

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1124T>G; p.I375R; 3:86065659-86065659

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1124T>G; p.I375R; 3:86065659-86065659

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_relatedSubstitution - Missense

c.250G>A; p.A84T; 3:85883323-85883323

 large_intestine; colonadenomaSubstitution - Missense

c.339C>G; p.V113V; 3:85883412-85883412

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.873G>A; p.T291T; 3:85961571-85961571

 breastcarcinomaSubstitution - coding silent

c.826A>G; p.M276V; 3:85961524-85961524

 livercarcinomaSubstitution - Missense

c.889C>T; p.R297*; 3:85961587-85961587

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.889C>T; p.R297*; 3:85961587-85961587

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.719C>T; p.P240L; 3:85935806-85935806

 skinmalignant_melanomaSubstitution - Missense

c.889C>T; p.R297*; 3:85961587-85961587

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.685C>T; p.P229S; 3:85935772-85935772

 skinmalignant_melanomaSubstitution - Missense

c.879T>A; p.N293K; 3:85961577-85961577

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.889C>T; p.R297*; 3:85961587-85961587

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.646C>T; p.P216S; 3:85912510-85912510

 skinmalignant_melanomaSubstitution - Missense

c.646C>T; p.P216S; 3:85912510-85912510

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.646C>T; p.P216S; 3:85912510-85912510

 livercarcinomaSubstitution - Missense

c.526G>A; p.E176K; 3:85912390-85912390

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.856C>T; p.L286F; 3:85961554-85961554

 skinmalignant_melanomaSubstitution - Missense

c.707_708CG>TC; p.S236F; 3:85935794-85935795

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.395G>T; p.S132I; 3:85886214-85886214

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1312T>G; p.*438E; 3:86066781-86066781

 endometriumcarcinoma; endometrioid_carcinomaNonstop extension

c.15C>A; p.F5L; 3:85726496-85726496

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.85C>A; p.P29T; 3:85802064-85802064

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1157C>T; p.S386F; 3:86065692-86065692

 skinmalignant_melanomaSubstitution - Missense

c.1095T>A; p.N365K; 3:86065630-86065630

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.249C>T; p.R83R; 3:85883322-85883322

 breastcarcinomaSubstitution - coding silent

c.249C>T; p.R83R; 3:85883322-85883322

 prostateadenomaSubstitution - coding silent

c.249C>T; p.R83R; 3:85883322-85883322

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.196C>A; p.L66M; 3:85802175-85802175

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1092G>A; p.Q364Q; 3:86065627-86065627

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.856C>A; p.L286I; 3:85961554-85961554

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1028C>A; p.T343K; 3:85979242-85979242

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.874G>A; p.D292N; 3:85961572-85961572

 skinmalignant_melanomaSubstitution - Missense

c.713C>T; p.P238L; 3:85935800-85935800

 skinmalignant_melanomaSubstitution - Missense

c.1175G>A; p.R392Q; 3:86065710-86065710

 skinmalignant_melanomaSubstitution - Missense

c.1175G>A; p.R392Q; 3:86065710-86065710

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1036C>A; p.P346T; 3:85979250-85979250

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.126A>C; p.A42A; 3:85802105-85802105

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.126A>C; p.A42A; 3:85802105-85802105

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.927G>A; p.A309A; 3:85961625-85961625

 lungcarcinoma; non_small_cell_carcinomaSubstitution - coding silent

c.670G>C; p.E224Q; 3:85912534-85912534

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.688T>C; p.S230P; 3:85935775-85935775

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1079C>T; p.A360V; 3:86065614-86065614

 skinmalignant_melanomaSubstitution - Missense

c.696G>T; p.K232N; 3:85935783-85935783

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.283G>A; p.D95N; 3:85883356-85883356

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.794A>T; p.K265M; 3:85961492-85961492

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.67+1G>T; p.?; 3:85726549-85726549

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.1070A>G; p.D357G; 3:86065605-86065605

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1121G>A; p.G374E; 3:86065656-86065656

 skinmalignant_melanomaSubstitution - Missense

c.1121G>A; p.G374E; 3:86065656-86065656

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.589A>T; p.S197C; 3:85912453-85912453

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1196G>A; p.G399E; 3:86066665-86066665

 skinmalignant_melanomaSubstitution - Missense

c.893G>T; p.C298F; 3:85961591-85961591

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.97A>G; p.N33D; 3:85802076-85802076

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.576C>T; p.F192F; 3:85912440-85912440

 skinmalignant_melanomaSubstitution - coding silent

c.729A>G; p.G243G; 3:85935816-85935816

 oesophaguscarcinomaSubstitution - coding silent

c.22A>G; p.N8D; 3:85726503-85726503

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.22A>G; p.N8D; 3:85726503-85726503

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.605C>T; p.A202V; 3:85912469-85912469

 skinmalignant_melanomaSubstitution - Missense

c.1238C>T; p.P413L; 3:86066707-86066707

 skinmalignant_melanomaSubstitution - Missense

c.1114A>G; p.I372V; 3:86065649-86065649

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.446A>G; p.K149R; 3:85886265-85886265

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.466G>T; p.A156S; 3:85886285-85886285

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.262G>A; p.E88K; 3:85883335-85883335

 skinmalignant_melanomaSubstitution - Missense

c.1148C>T; p.T383M; 3:86065683-86065683

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.818C>A; p.P273H; 3:85961516-85961516

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1148C>T; p.T383M; 3:86065683-86065683

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_relatedSubstitution - Missense

c.161C>A; p.T54N; 3:85802140-85802140

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.663G>A; p.Q221Q; 3:85912527-85912527

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.112G>T; p.E38*; 3:85802091-85802091

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.440C>A; p.T147N; 3:85886259-85886259

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.248G>A; p.R83H; 3:85883321-85883321

 livercarcinomaSubstitution - Missense

c.1108G>T; p.A370S; 3:86065643-86065643

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.672A>G; p.E224E; 3:85912536-85912536

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.233G>T; p.R78M; 3:85883306-85883306

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.452C>G; p.S151C; 3:85886271-85886271

 breastcarcinomaSubstitution - Missense

c.8T>C; p.V3A; 3:85726489-85726489

 skin; handcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.610A>T; p.I204F; 3:85912474-85912474

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.598G>T; p.G200*; 3:85912462-85912462

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.145G>C; p.D49H; 3:85802124-85802124

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.118G>A; p.G40R; 3:85802097-85802097

 livercarcinomaSubstitution - Missense

c.118G>A; p.G40R; 3:85802097-85802097

 livercarcinomaSubstitution - Missense

c.1067G>A; p.R356K; 3:85979281-85979281

 oesophaguscarcinomaSubstitution - Missense

c.604G>A; p.A202T; 3:85912468-85912468

 skinmalignant_melanomaSubstitution - Missense

c.604G>A; p.A202T; 3:85912468-85912468

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.541C>T; p.R181C; 3:85912405-85912405

 skinmalignant_melanomaSubstitution - Missense

c.541C>T; p.R181C; 3:85912405-85912405

 pancreascarcinomaSubstitution - Missense

c.541C>T; p.R181C; 3:85912405-85912405

 oesophaguscarcinomaSubstitution - Missense

c.541C>T; p.R181C; 3:85912405-85912405

 skinmalignant_melanomaSubstitution - Missense

c.807A>T; p.E269D; 3:85961505-85961505

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.50C>T; p.S17L; 3:85726531-85726531

 skinmalignant_melanomaSubstitution - Missense

c.861C>T; p.F287F; 3:85961559-85961559

 skinmalignant_melanomaSubstitution - coding silent

c.839G>C; p.G280A; 3:85961537-85961537

 breastcarcinomaSubstitution - Missense

c.861C>T; p.F287F; 3:85961559-85961559

 skinmalignant_melanomaSubstitution - coding silent

c.949+1G>T; p.?; 3:85961648-85961648

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.23A>G; p.N8S; 3:85726504-85726504

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.23A>G; p.N8S; 3:85726504-85726504

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.23A>G; p.N8S; 3:85726504-85726504

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.23A>G; p.N8S; 3:85726504-85726504

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.971C>T; p.P324L; 3:85979185-85979185

 NSmalignant_melanomaSubstitution - Missense

c.971C>T; p.P324L; 3:85979185-85979185

 NSmalignant_melanomaSubstitution - Missense

c.23A>G; p.N8S; 3:85726504-85726504

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.23A>G; p.N8S; 3:85726504-85726504

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1099C>A; p.P367T; 3:86065634-86065634

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1142T>G; p.F381C; 3:86065677-86065677

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.977C>T; p.T326I; 3:85979191-85979191

 skinmalignant_melanomaSubstitution - Missense

c.202T>A; p.F68I; 3:85802181-85802181

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1149G>A; p.T383T; 3:86065684-86065684

 breastcarcinomaSubstitution - coding silent

c.418G>A; p.E140K; 3:85886237-85886237

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.728G>A; p.G243E; 3:85935815-85935815

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1047T>A; p.S349S; 3:85979261-85979261

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1047T>A; p.S349S; 3:85979261-85979261

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.306A>G; p.G102G; 3:85883379-85883379

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.890G>A; p.R297Q; 3:85961588-85961588

 pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.890G>A; p.R297Q; 3:85961588-85961588

 skinmalignant_melanomaSubstitution - Missense

c.242T>A; p.L81Q; 3:85883315-85883315

 livercarcinomaSubstitution - Missense

c.242T>A; p.L81Q; 3:85883315-85883315

 livercarcinomaSubstitution - Missense

c.189A>C; p.Q63H; 3:85802168-85802168

 skinmalignant_melanomaSubstitution - Missense

c.189A>C; p.Q63H; 3:85802168-85802168

 skinmalignant_melanomaSubstitution - Missense

c.129T>G; p.I43M; 3:85802108-85802108

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.364G>A; p.V122I; 3:85883437-85883437

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.364G>A; p.V122I; 3:85883437-85883437

 livercarcinomaSubstitution - Missense

c.364G>A; p.V122I; 3:85883437-85883437

 livercarcinomaSubstitution - Missense

c.531G>T; p.E177D; 3:85912395-85912395

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1150C>T; p.L384L; 3:86065685-86065685

 skinmalignant_melanomaSubstitution - coding silent

c.216A>G; p.K72K; 3:85802195-85802195

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1097G>T; p.G366V; 3:86065632-86065632

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1207A>G; p.T403A; 3:86066676-86066676

 livercarcinomaSubstitution - Missense

c.1207A>G; p.T403A; 3:86066676-86066676

 livercarcinomaSubstitution - Missense

c.570G>A; p.L190L; 3:85912434-85912434

 skinmalignant_melanomaSubstitution - coding silent

c.288_289insTC; p.D100fs*45; 3:85883361-85883362

 endometriumcarcinoma; endometrioid_carcinomaInsertion - Frameshift

c.1260C>G; p.I420M; 3:86066729-86066729

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1220A>G; p.K407R; 3:86066689-86066689

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.895G>A; p.E299K; 3:85961593-85961593

 breastcarcinomaSubstitution - Missense

c.1265C>A; p.A422D; 3:86066734-86066734

 breastcarcinomaSubstitution - Missense

c.970C>T; p.P324S; 3:85979184-85979184

 skinmalignant_melanomaSubstitution - Missense

c.703C>A; p.P235T; 3:85935790-85935790

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.970C>T; p.P324S; 3:85979184-85979184

 skinmalignant_melanomaSubstitution - Missense

c.166C>A; p.L56I; 3:85802145-85802145

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.166C>A; p.L56I; 3:85802145-85802145

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.586C>T; p.R196W; 3:85912450-85912450

 pancreascarcinomaSubstitution - Missense

c.1021G>T; p.A341S; 3:85979235-85979235

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.583G>A; p.D195N; 3:85912447-85912447

 skinmalignant_melanomaSubstitution - Missense

c.591T>C; p.S197S; 3:85912455-85912455

 livercarcinomaSubstitution - coding silent

c.771G>A; p.L257L; 3:85961469-85961469

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.591T>C; p.S197S; 3:85912455-85912455

 livercarcinomaSubstitution - coding silent

c.1024A>C; p.I342L; 3:85979238-85979238

 skinmalignant_melanomaSubstitution - Missense

c.1121G>T; p.G374V; 3:86065656-86065656

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.643A>C; p.T215P; 3:85912507-85912507

 breastcarcinomaSubstitution - Missense

c.606G>T; p.A202A; 3:85912470-85912470

 skinmalignant_melanomaSubstitution - coding silent

c.1278A>C; p.Q426H; 3:86066747-86066747

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.556G>T; p.V186F; 3:85912420-85912420

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.883A>G; p.T295A; 3:85961581-85961581

 skin; anklemalignant_melanoma; acral_lentiginousSubstitution - Missense

c.501G>T; p.E167D; 3:85886320-85886320

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.722A>C; p.Q241P; 3:85935809-85935809

 breastcarcinomaSubstitution - Missense

c.532G>A; p.D178N; 3:85912396-85912396

 skinmalignant_melanomaSubstitution - Missense

c.944T>A; p.V315E; 3:85961642-85961642

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.724G>A; p.E242K; 3:85935811-85935811

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.724G>A; p.E242K; 3:85935811-85935811

 skinmalignant_melanomaSubstitution - Missense

c.724G>A; p.E242K; 3:85935811-85935811

 skinmalignant_melanomaSubstitution - Missense

c.845A>T; p.E282V; 3:85961543-85961543

 breastcarcinomaSubstitution - Missense

')