Cancer metastasis gene database Home
Cancer metastasis database
General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction

Basic Information

Gene ID

2201

Name

FBN2

Synonymous

fibrillin 2;FBN2;fibrillin 2

Definition

fibrillin 5|fibrillin-2

Position

5q23-q31

Gene Type

protein-coding

COSMIC somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.1152G>A; p.T384T; 5:128395201-128395201

skinmalignant_melanomaSubstitution - coding silent

c.2027G>T; p.S676I; 5:128374696-128374696

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.8385G>T; p.E2795D; 5:128259809-128259809

livercarcinomaSubstitution - Missense

c.5520T>G; p.S1840R; 5:128305851-128305851

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3420C>T; p.C1140C; 5:128338985-128338985

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.6787C>A; p.L2263M; 5:128287401-128287401

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.6762C>G; p.I2254M; 5:128287426-128287426

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1569G>T; p.M523I; 5:128392052-128392052

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2469C>T; p.N823N; 5:128361808-128361808

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.2469C>T; p.N823N; 5:128361808-128361808

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1152G>A; p.T384T; 5:128395201-128395201

skinmalignant_melanomaSubstitution - coding silent

c.7720G>A; p.E2574K; 5:128273960-128273960

skinmalignant_melanomaSubstitution - Missense

c.8385G>T; p.E2795D; 5:128259809-128259809

livercarcinomaSubstitution - Missense

c.6762C>G; p.I2254M; 5:128287426-128287426

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.3139G>A; p.E1047K; 5:128345435-128345435

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.7824C>T; p.T2608T; 5:128273856-128273856

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.5138G>A; p.G1713E; 5:128310045-128310045

skin; neckmalignant_melanomaSubstitution - Missense

c.5138G>A; p.G1713E; 5:128310045-128310045

NSmalignant_melanomaSubstitution - Missense

c.5138G>A; p.G1713E; 5:128310045-128310045

NSmalignant_melanomaSubstitution - Missense

c.5138G>A; p.G1713E; 5:128310045-128310045

skinmalignant_melanomaSubstitution - Missense

c.4709G>T; p.G1570V; 5:128318157-128318157

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.4636C>A; p.L1546I; 5:128318230-128318230

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2559A>G; p.I853M; 5:128357391-128357391

urinary_tract; bladdercarcinomaSubstitution - Missense

c.4786G>A; p.E1596K; 5:128312727-128312727

skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3754_3755GG>AA; p.G1252>?; 5:128335547-128335548

skin; trunkmalignant_melanomaComplex

c.4868delC; p.P1623fs*26; 5:128312645-128312645

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.7204C>T; p.R2402C; 5:128278776-128278776

prostatecarcinomaSubstitution - Missense

c.4868delC; p.P1623fs*26; 5:128312645-128312645

stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.5972T>A; p.F1991Y; 5:128301456-128301456

skinmalignant_melanomaSubstitution - Missense

c.4062G>C; p.L1354L; 5:128334756-128334756

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.8232C>G; p.Y2744*; 5:128261868-128261868

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.6831C>T; p.C2277C; 5:128287357-128287357

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.5350A>G; p.T1784A; 5:128309250-128309250

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.8289C>T; p.Y2763Y; 5:128261811-128261811

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.6878A>G; p.K2293R; 5:128287310-128287310

skinmalignant_melanomaSubstitution - Missense

c.6439G>C; p.D2147H; 5:128290738-128290738

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.6910G>A; p.D2304N; 5:128286820-128286820

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.4654G>T; p.G1552C; 5:128318212-128318212

livercarcinomaSubstitution - Missense

c.4654G>T; p.G1552C; 5:128318212-128318212

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.4587C>T; p.N1529N; 5:128318886-128318886

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1138C>A; p.P380T; 5:128395215-128395215

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.6122G>T; p.C2041F; 5:128300861-128300861

livercarcinomaSubstitution - Missense

c.2760C>T; p.C920C; 5:128350920-128350920

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2960C>T; p.T987M; 5:128349376-128349376

prostatecarcinomaSubstitution - Missense

c.1138C>A; p.P380T; 5:128395215-128395215

livercarcinomaSubstitution - Missense

c.4869T>A; p.P1623P; 5:128312644-128312644

lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.5201-1G>C; p.?; 5:128309400-128309400

breastcarcinomaUnknown

c.8497C>T; p.R2833C; 5:128259697-128259697

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.5024G>T; p.C1675F; 5:128311350-128311350

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1434C>T; p.A478A; 5:128393166-128393166

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.5808T>C; p.D1936D; 5:128303082-128303082

thyroidcarcinomaSubstitution - coding silent

c.6704T>A; p.F2235Y; 5:128288491-128288491

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.6411G>A; p.G2137G; 5:128290766-128290766

skinmalignant_melanomaSubstitution - coding silent

c.3943A>G; p.M1315V; 5:128335200-128335200

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1172A>T; p.E391V; 5:128395181-128395181

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.6269C>A; p.S2090Y; 5:128291552-128291552

stomachcarcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiableSubstitution - Missense

c.6460T>G; p.L2154V; 5:128289933-128289933

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.5492T>C; p.F1831S; 5:128305879-128305879

stomachadenocarcinomaSubstitution - Missense

c.79G>A; p.A27T; 5:128537525-128537525

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1973A>G; p.D658G; 5:128374750-128374750

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3218-3_3218-2insT; p.?; 5:128344512-128344513

livercarcinomaUnknown

c.3218-3_3218-2insT; p.?; 5:128344512-128344513

livercarcinomaUnknown

c.5243C>T; p.T1748I; 5:128309357-128309357

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1244G>A; p.R415K; 5:128393356-128393356

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.5815G>A; p.E1939K; 5:128303075-128303075

skinmalignant_melanomaSubstitution - Missense

c.6994G>A; p.D2332N; 5:128286736-128286736

skinmalignant_melanomaSubstitution - Missense

c.8117G>T; p.C2706F; 5:128263500-128263500

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.7485C>T; p.C2495C; 5:128276147-128276147

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.4634G>A; p.G1545D; 5:128318232-128318232

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.6633T>C; p.C2211C; 5:128289131-128289131

oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.5815G>A; p.E1939K; 5:128303075-128303075

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1237T>C; p.Y413H; 5:128393363-128393363

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.3104C>A; p.T1035N; 5:128345470-128345470

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2149C>T; p.R717C; 5:128369281-128369281

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3061C>T; p.R1021C; 5:128345513-128345513

skinmalignant_melanomaSubstitution - Missense

c.2017T>A; p.C673S; 5:128374706-128374706

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.5209A>T; p.K1737*; 5:128309391-128309391

skinmalignant_melanomaSubstitution - Nonsense

c.2149C>T; p.R717C; 5:128369281-128369281

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.6297T>C; p.T2099T; 5:128290880-128290880

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3182G>A; p.R1061Q; 5:128345392-128345392

skinmalignant_melanomaSubstitution - Missense

c.1432G>A; p.A478T; 5:128393168-128393168

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.8461C>A; p.L2821I; 5:128259733-128259733

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.8086G>A; p.V2696M; 5:128263531-128263531

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.7554G>T; p.P2518P; 5:128276078-128276078

livercarcinomaSubstitution - coding silent

c.3369T>A; p.P1123P; 5:128339036-128339036

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.5562C>T; p.C1854C; 5:128305623-128305623

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3373C>T; p.L1125F; 5:128339032-128339032

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.8226G>A; p.G2742G; 5:128261874-128261874

breastcarcinomaSubstitution - coding silent

c.2575A>G; p.N859D; 5:128357375-128357375

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4324G>A; p.G1442S; 5:128330594-128330594

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.7756G>A; p.G2586R; 5:128273924-128273924

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1194C>T; p.I398I; 5:128395159-128395159

skinmalignant_melanomaSubstitution - coding silent

c.7607G>A; p.C2536Y; 5:128274671-128274671

pancreascarcinomaSubstitution - Missense

c.4134C>T; p.C1378C; 5:128333000-128333000

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.3728T>C; p.I1243T; 5:128335574-128335574

ovaryother; neoplasmSubstitution - Missense

c.8658G>T; p.L2886L; 5:128259536-128259536

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.743G>C; p.G248A; 5:128464807-128464807

livercarcinomaSubstitution - Missense

c.2979T>C; p.R993R; 5:128349357-128349357

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.6185A>T; p.E2062V; 5:128291636-128291636

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.4082G>A; p.G1361E; 5:128334736-128334736

skinmalignant_melanomaSubstitution - Missense

c.4471G>T; p.D1491Y; 5:128328696-128328696

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1361G>A; p.G454E; 5:128393239-128393239

skin; mucosalmalignant_melanomaSubstitution - Missense

c.3187G>A; p.D1063N; 5:128345387-128345387

skinmalignant_melanomaSubstitution - Missense

c.3342G>A; p.T1114T; 5:128344386-128344386

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.3839C>T; p.S1280L; 5:128335463-128335463

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.5094A>T; p.A1698A; 5:128310089-128310089

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.4649C>T; p.T1550M; 5:128318217-128318217

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.3839C>T; p.S1280L; 5:128335463-128335463

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3839C>T; p.S1280L; 5:128335463-128335463

skinmalignant_melanomaSubstitution - Missense

c.827-1G>C; p.?; 5:128446607-128446607

lungcarcinoma; adenocarcinomaUnknown

c.8494delA; p.I2832fs*65; 5:128259700-128259700

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.2940C>G; p.C980W; 5:128349396-128349396

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3087C>T; p.V1029V; 5:128345487-128345487

skinmalignant_melanomaSubstitution - coding silent

c.3202C>T; p.R1068W; 5:128345372-128345372

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3294C>G; p.C1098W; 5:128344434-128344434

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.8100G>A; p.S2700S; 5:128263517-128263517

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.933A>T; p.E311D; 5:128446500-128446500

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.5377A>G; p.N1793D; 5:128307180-128307180

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.744C>T; p.G248G; 5:128464806-128464806

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.3641G>T; p.G1214V; 5:128336071-128336071

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.680G>A; p.G227E; 5:128464870-128464870

skinmalignant_melanomaSubstitution - Missense

c.2900C>T; p.P967L; 5:128349436-128349436

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3981T>A; p.N1327K; 5:128334837-128334837

autonomic_ganglianeuroblastomaSubstitution - Missense

c.7477G>C; p.D2493H; 5:128276155-128276155

breastcarcinomaSubstitution - Missense

c.1951C>G; p.P651A; 5:128376752-128376752

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.5229C>A; p.S1743R; 5:128309371-128309371

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1951C>G; p.P651A; 5:128376752-128376752

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.6280C>T; p.R2094W; 5:128291541-128291541

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.5383C>T; p.P1795S; 5:128307174-128307174

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.3701C>T; p.T1234M; 5:128336011-128336011

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.3430G>A; p.E1144K; 5:128338975-128338975

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.7253G>T; p.W2418L; 5:128278727-128278727

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1190G>C; p.G397A; 5:128395163-128395163

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.7112C>T; p.S2371L; 5:128280218-128280218

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.4252C>T; p.Q1418*; 5:128330666-128330666

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.3430G>A; p.E1144K; 5:128338975-128338975

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.7112C>T; p.S2371L; 5:128280218-128280218

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.3430G>A; p.E1144K; 5:128338975-128338975

urinary_tract; bladdercarcinomaSubstitution - Missense

c.3641G>A; p.G1214E; 5:128336071-128336071

skinmalignant_melanomaSubstitution - Missense

c.5523C>A; p.Y1841*; 5:128305848-128305848

autonomic_ganglianeuroblastomaSubstitution - Nonsense

c.584G>A; p.R195H; 5:128519317-128519317

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.584G>A; p.R195H; 5:128519317-128519317

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3834G>A; p.G1278G; 5:128335468-128335468

skinmalignant_melanomaSubstitution - coding silent

c.8181A>T; p.R2727S; 5:128263436-128263436

livercarcinomaSubstitution - Missense

c.6578C>A; p.S2193Y; 5:128289186-128289186

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3093G>A; p.A1031A; 5:128345481-128345481

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.8181A>T; p.R2727S; 5:128263436-128263436

livercarcinomaSubstitution - Missense

c.6406T>A; p.W2136R; 5:128290771-128290771

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3156C>T; p.C1052C; 5:128345418-128345418

breastcarcinomaSubstitution - coding silent

c.748C>A; p.P250T; 5:128464802-128464802

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3225T>C; p.N1075N; 5:128344503-128344503

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2955C>T; p.G985G; 5:128349381-128349381

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.338C>T; p.P113L; 5:128530693-128530693

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.338C>T; p.P113L; 5:128530693-128530693

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2175G>T; p.K725N; 5:128369255-128369255

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1773C>T; p.C591C; 5:128377828-128377828

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1452C>A; p.I484I; 5:128393148-128393148

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.6534C>T; p.S2178S; 5:128289230-128289230

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.347G>T; p.R116I; 5:128530684-128530684

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2260G>A; p.G754S; 5:128366419-128366419

skin; trunkmalignant_melanomaSubstitution - Missense

c.1452C>A; p.I484I; 5:128393148-128393148

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.905G>A; p.R302K; 5:128446528-128446528

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.2996G>A; p.R999H; 5:128345578-128345578

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.7305G>T; p.K2435N; 5:128278675-128278675

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2996G>A; p.R999H; 5:128345578-128345578

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.6603C>T; p.G2201G; 5:128289161-128289161

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.7138G>A; p.D2380N; 5:128280192-128280192

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2584G>T; p.V862F; 5:128357366-128357366

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.7977C>T; p.S2659S; 5:128263640-128263640

skinmalignant_melanomaSubstitution - coding silent

c.1609G>A; p.D537N; 5:128378885-128378885

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.4290C>A; p.G1430G; 5:128330628-128330628

kidneyother; neoplasmSubstitution - coding silent

c.5081A>G; p.D1694G; 5:128310102-128310102

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1445G>A; p.G482E; 5:128393155-128393155

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.8475C>A; p.I2825I; 5:128259719-128259719

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2700C>T; p.L900L; 5:128350980-128350980

livercarcinomaSubstitution - coding silent

c.7029G>T; p.R2343S; 5:128280301-128280301

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1899C>A; p.I633I; 5:128376804-128376804

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.6548C>A; p.S2183*; 5:128289216-128289216

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.2700C>T; p.L900L; 5:128350980-128350980

livercarcinomaSubstitution - coding silent

c.8602T>C; p.Y2868H; 5:128259592-128259592

livercarcinomaSubstitution - Missense

c.3653A>G; p.N1218S; 5:128336059-128336059

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.8667C>G; p.S2889R; 5:128259527-128259527

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.4756C>T; p.R1586*; 5:128312757-128312757

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1137C>T; p.L379L; 5:128395216-128395216

skinmalignant_melanomaSubstitution - coding silent

c.1137C>T; p.L379L; 5:128395216-128395216

skinmalignant_melanomaSubstitution - coding silent

c.2255T>C; p.F752S; 5:128366424-128366424

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.5411G>A; p.G1804E; 5:128307146-128307146

skinmalignant_melanomaSubstitution - Missense

c.5843G>C; p.C1948S; 5:128303047-128303047

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.5721G>T; p.L1907F; 5:128305036-128305036

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.4181G>A; p.S1394N; 5:128332953-128332953

skinmalignant_melanomaSubstitution - Missense

c.219C>T; p.R73R; 5:128537385-128537385

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.6006C>T; p.N2002N; 5:128301422-128301422

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.4919G>T; p.R1640I; 5:128311914-128311914

oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3973+3G>C; p.?; 5:128335167-128335167

lungcarcinoma; squamous_cell_carcinomaUnknown

c.984A>G; p.I328M; 5:128408768-128408768

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.5945G>C; p.G1982A; 5:128301483-128301483

livercarcinomaSubstitution - Missense

c.4422C>T; p.C1474C; 5:128328745-128328745

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.809G>T; p.R270L; 5:128464741-128464741

lung; left_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.5945G>C; p.G1982A; 5:128301483-128301483

livercarcinomaSubstitution - Missense

c.7286G>T; p.G2429V; 5:128278694-128278694

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.6889G>A; p.E2297K; 5:128286841-128286841

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1592G>A; p.G531E; 5:128392029-128392029

skinmalignant_melanomaSubstitution - Missense

c.731G>T; p.G244V; 5:128464819-128464819

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.6251C>A; p.P2084H; 5:128291570-128291570

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2986T>A; p.L996M; 5:128349350-128349350

livercarcinomaSubstitution - Missense

c.2161G>A; p.G721S; 5:128369269-128369269

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.2161G>A; p.G721S; 5:128369269-128369269

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.865G>T; p.G289*; 5:128446568-128446568

stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1410C>T; p.G470G; 5:128393190-128393190

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2161G>A; p.G721S; 5:128369269-128369269

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.7488C>T; p.S2496S; 5:128276144-128276144

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2161G>A; p.G721S; 5:128369269-128369269

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.966C>A; p.C322*; 5:128408786-128408786

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.4231G>C; p.E1411Q; 5:128330687-128330687

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1733A>T; p.E578V; 5:128377868-128377868

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.574G>A; p.G192R; 5:128519327-128519327

skin; head_neckmalignant_melanoma; superficial_spreadingSubstitution - Missense

c.6026C>T; p.P2009L; 5:128301402-128301402

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3509G>T; p.R1170M; 5:128338086-128338086

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.6583C>T; p.R2195C; 5:128289181-128289181

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.6583C>T; p.R2195C; 5:128289181-128289181

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3509G>T; p.R1170M; 5:128338086-128338086

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.6026C>T; p.P2009L; 5:128301402-128301402

upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.4278A>G; p.V1426V; 5:128330640-128330640

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.6660C>T; p.G2220G; 5:128288535-128288535

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.4716T>C; p.V1572V; 5:128318150-128318150

livercarcinomaSubstitution - coding silent

c.8537G>A; p.R2846H; 5:128259657-128259657

pancreascarcinomaSubstitution - Missense

c.4617T>G; p.P1539P; 5:128318249-128318249

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.8537G>A; p.R2846H; 5:128259657-128259657

pancreascarcinomaSubstitution - Missense

c.4716T>C; p.V1572V; 5:128318150-128318150

livercarcinomaSubstitution - coding silent

c.8537G>A; p.R2846H; 5:128259657-128259657

pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.8153T>G; p.L2718R; 5:128263464-128263464

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2646A>C; p.K882N; 5:128357304-128357304

livercarcinomaSubstitution - Missense

c.3019T>C; p.W1007R; 5:128345555-128345555

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.4940T>A; p.I1647N; 5:128311893-128311893

upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3019T>C; p.W1007R; 5:128345555-128345555

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.469G>T; p.G157W; 5:128527935-128527935

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1875C>T; p.N625N; 5:128376828-128376828

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.3019T>C; p.W1007R; 5:128345555-128345555

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2081G>T; p.G694V; 5:128374642-128374642

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.7496C>A; p.P2499Q; 5:128276136-128276136

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.6629G>T; p.R2210L; 5:128289135-128289135

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.6964A>C; p.I2322L; 5:128286766-128286766

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.3750C>T; p.N1250N; 5:128335552-128335552

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.3929G>T; p.C1310F; 5:128335214-128335214

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1572T>C; p.G524G; 5:128392049-128392049

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.7293C>A; p.A2431A; 5:128278687-128278687

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.7121C>T; p.S2374L; 5:128280209-128280209

oesophaguscarcinomaSubstitution - Missense

c.1743G>C; p.Q581H; 5:128377858-128377858

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2748G>A; p.L916L; 5:128350932-128350932

skinmalignant_melanomaSubstitution - coding silent

c.5111G>T; p.G1704V; 5:128310072-128310072

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.8406C>T; p.P2802P; 5:128259788-128259788

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.8322C>A; p.D2774E; 5:128261778-128261778

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.6870G>C; p.K2290N; 5:128287318-128287318

skinmalignant_melanomaSubstitution - Missense

c.2480G>T; p.R827L; 5:128361797-128361797

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1996G>T; p.G666*; 5:128374727-128374727

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.769C>T; p.Q257*; 5:128464781-128464781

livercarcinomaSubstitution - Nonsense

c.6881-1G>C; p.?; 5:128286850-128286850

urinary_tract; bladdercarcinomaUnknown

c.769C>T; p.Q257*; 5:128464781-128464781

livercarcinoma; hepatocellular_carcinomaSubstitution - Nonsense

c.1148T>A; p.M383K; 5:128395205-128395205

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.533C>A; p.P178H; 5:128519368-128519368

breastcarcinomaSubstitution - Missense

c.361G>T; p.D121Y; 5:128530670-128530670

pancreasNSSubstitution - Missense

c.4757G>A; p.R1586Q; 5:128312756-128312756

oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.8139G>A; p.T2713T; 5:128263478-128263478

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.8139G>A; p.T2713T; 5:128263478-128263478

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.3430G>T; p.E1144*; 5:128338975-128338975

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.3655A>G; p.M1219V; 5:128336057-128336057

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.3655A>G; p.M1219V; 5:128336057-128336057

livercarcinomaSubstitution - Missense

c.8499T>C; p.R2833R; 5:128259695-128259695

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.8499T>C; p.R2833R; 5:128259695-128259695

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.8499T>C; p.R2833R; 5:128259695-128259695

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.6325G>A; p.E2109K; 5:128290852-128290852

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.180G>A; p.A60A; 5:128537424-128537424

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.4001A>C; p.N1334T; 5:128334817-128334817

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.180G>A; p.A60A; 5:128537424-128537424

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2706_2707CC>AA; p.Q903K; 5:128350973-128350974

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3150G>T; p.T1050T; 5:128345424-128345424

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.8305G>A; p.G2769S; 5:128261795-128261795

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.5430T>A; p.D1810E; 5:128305941-128305941

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1142G>A; p.G381E; 5:128395211-128395211

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.7595-1G>C; p.?; 5:128274684-128274684

breastcarcinomaUnknown

c.2330A>G; p.D777G; 5:128364698-128364698

skinmalignant_melanomaSubstitution - Missense

c.3058T>G; p.F1020V; 5:128345516-128345516

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.132G>A; p.P44P; 5:128537472-128537472

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.3779C>T; p.S1260L; 5:128335523-128335523

skinmalignant_melanomaSubstitution - Missense

c.132G>A; p.P44P; 5:128537472-128537472

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.4696C>A; p.P1566T; 5:128318170-128318170

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.6278G>A; p.G2093E; 5:128291543-128291543

skinmalignant_melanomaSubstitution - Missense

c.3368C>A; p.P1123H; 5:128339037-128339037

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.395G>A; p.C132Y; 5:128530636-128530636

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.3607G>A; p.E1203K; 5:128336105-128336105

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.395G>A; p.C132Y; 5:128530636-128530636

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.2676C>T; p.D892D; 5:128351004-128351004

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.5329G>A; p.E1777K; 5:128309271-128309271

breastcarcinomaSubstitution - Missense

c.5495G>A; p.R1832H; 5:128305876-128305876

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2685G>T; p.K895N; 5:128350995-128350995

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.4165G>T; p.G1389*; 5:128332969-128332969

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.8595C>A; p.P2865P; 5:128259599-128259599

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.578C>A; p.P193H; 5:128519323-128519323

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1240C>T; p.R414C; 5:128393360-128393360

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.7553C>T; p.P2518L; 5:128276079-128276079

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.5311G>A; p.A1771T; 5:128309289-128309289

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.8224G>A; p.G2742R; 5:128261876-128261876

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2508G>A; p.T836T; 5:128361769-128361769

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3980A>G; p.N1327S; 5:128334838-128334838

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.733C>T; p.R245W; 5:128464817-128464817

pancreascarcinomaSubstitution - Missense

c.733C>T; p.R245W; 5:128464817-128464817

pancreascarcinomaSubstitution - Missense

c.7134C>T; p.C2378C; 5:128280196-128280196

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.6601G>T; p.G2201C; 5:128289163-128289163

skinmalignant_melanomaSubstitution - Missense

c.3103A>G; p.T1035A; 5:128345471-128345471

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2830G>A; p.G944R; 5:128349988-128349988

skinmalignant_melanomaSubstitution - Missense

c.5621A>G; p.Y1874C; 5:128305564-128305564

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3682A>C; p.N1228H; 5:128336030-128336030

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3351C>T; p.D1117D; 5:128339054-128339054

thyroidcarcinomaSubstitution - coding silent

c.2753C>A; p.S918Y; 5:128350927-128350927

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2935C>T; p.H979Y; 5:128349401-128349401

skinmalignant_melanomaSubstitution - Missense

c.5459C>T; p.A1820V; 5:128305912-128305912

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4808G>A; p.R1603H; 5:128312705-128312705

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1154A>C; p.K385T; 5:128395199-128395199

central_nervous_system; braingliomaSubstitution - Missense

c.1161G>T; p.Q387H; 5:128395192-128395192

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3360G>A; p.R1120R; 5:128339045-128339045

skinmalignant_melanomaSubstitution - coding silent

c.205G>A; p.A69T; 5:128537399-128537399

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3429C>T; p.F1143F; 5:128338976-128338976

skinmalignant_melanomaSubstitution - coding silent

c.8557C>T; p.L2853F; 5:128259637-128259637

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3429C>T; p.F1143F; 5:128338976-128338976

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1779C>G; p.N593K; 5:128377822-128377822

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3518C>G; p.T1173S; 5:128338077-128338077

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1954A>T; p.N652Y; 5:128376749-128376749

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.5214C>A; p.S1738R; 5:128309386-128309386

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.8530G>A; p.V2844I; 5:128259664-128259664

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.3138G>T; p.K1046N; 5:128345436-128345436

autonomic_ganglianeuroblastomaSubstitution - Missense

c.4745A>C; p.K1582T; 5:128312768-128312768

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.6230G>T; p.G2077V; 5:128291591-128291591

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.6986G>A; p.R2329Q; 5:128286744-128286744

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.8261A>G; p.E2754G; 5:128261839-128261839

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.4817G>A; p.C1606Y; 5:128312696-128312696

large_intestine; coloncarcinomaSubstitution - Missense

c.466G>A; p.G156S; 5:128527938-128527938

skinmalignant_melanomaSubstitution - Missense

c.466G>A; p.G156S; 5:128527938-128527938

skinmalignant_melanomaSubstitution - Missense

c.2093_2094insGT; p.D699fs*26; 5:128374629-128374630

endometriumcarcinoma; endometrioid_carcinomaInsertion - Frameshift

c.4817G>A; p.C1606Y; 5:128312696-128312696

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2489C>A; p.P830Q; 5:128361788-128361788

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.695T>A; p.I232N; 5:128464855-128464855

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.555G>A; p.Q185Q; 5:128519346-128519346

skinmalignant_melanomaSubstitution - coding silent

c.472A>G; p.T158A; 5:128527932-128527932

haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.8147delG; p.G2716fs*79; 5:128263470-128263470

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.7074T>C; p.I2358I; 5:128280256-128280256

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.8549G>A; p.R2850K; 5:128259645-128259645

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1598G>T; p.C533F; 5:128392023-128392023

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1004C>T; p.S335F; 5:128408748-128408748

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.7877A>G; p.H2626R; 5:128272082-128272082

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2671A>G; p.I891V; 5:128357279-128357279

upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3330A>T; p.E1110D; 5:128344398-128344398

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1774G>A; p.V592M; 5:128377827-128377827

pancreascarcinomaSubstitution - Missense

c.4140G>A; p.M1380I; 5:128332994-128332994

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.7269G>T; p.E2423D; 5:128278711-128278711

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.2883G>A; p.V961V; 5:128349453-128349453

ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.8516G>A; p.G2839E; 5:128259678-128259678

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.8469C>T; p.P2823P; 5:128259725-128259725

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.3785G>A; p.G1262E; 5:128335517-128335517

skinmalignant_melanomaSubstitution - Missense

c.4492C>T; p.Q1498*; 5:128318981-128318981

skinmalignant_melanomaSubstitution - Nonsense

c.1149G>A; p.M383I; 5:128395204-128395204

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1899C>T; p.I633I; 5:128376804-128376804

ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.7196C>A; p.S2399Y; 5:128278784-128278784

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.7019A>G; p.N2340S; 5:128280311-128280311

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.6007G>A; p.E2003K; 5:128301421-128301421

oesophaguscarcinomaSubstitution - Missense

c.2227C>G; p.P743A; 5:128369203-128369203

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.749C>T; p.P250L; 5:128464801-128464801

skinmalignant_melanomaSubstitution - Missense

c.3352G>T; p.E1118*; 5:128339053-128339053

urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.3352G>T; p.E1118*; 5:128339053-128339053

oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.7970A>T; p.E2657V; 5:128263647-128263647

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1958G>A; p.G653E; 5:128376745-128376745

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.8097C>T; p.C2699C; 5:128263520-128263520

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.7417C>T; p.R2473*; 5:128277934-128277934

stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.5533C>G; p.L1845V; 5:128305838-128305838

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.3792C>G; p.Y1264*; 5:128335510-128335510

stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1204C>A; p.P402T; 5:128395149-128395149

livercarcinomaSubstitution - Missense

c.2411C>G; p.S804C; 5:128364617-128364617

central_nervous_system; third_ventricleglioma; ependymomaSubstitution - Missense

c.6254delC; p.P2085fs*164; 5:128291567-128291567

oesophagus; lower_thirdcarcinoma; adenocarcinomaDeletion - Frameshift

c.2076G>A; p.M692I; 5:128374647-128374647

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.4746G>T; p.K1582N; 5:128312767-128312767

oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2076G>A; p.M692I; 5:128374647-128374647

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.645G>A; p.P215P; 5:128464905-128464905

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.865G>A; p.G289R; 5:128446568-128446568

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4184G>T; p.C1395F; 5:128332950-128332950

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.4192_4193GG>AA; p.G1398N; 5:128332941-128332942

skinmalignant_melanomaSubstitution - Missense

c.3062G>T; p.R1021L; 5:128345512-128345512

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.7212C>T; p.L2404L; 5:128278768-128278768

kidneyother; neoplasmSubstitution - coding silent

c.1790G>A; p.S597N; 5:128377811-128377811

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2711A>T; p.D904V; 5:128350969-128350969

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.5965C>T; p.R1989C; 5:128301463-128301463

upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1871C>G; p.T624S; 5:128376832-128376832

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.6908A>G; p.H2303R; 5:128286822-128286822

livercarcinomaSubstitution - Missense

c.238C>G; p.Q80E; 5:128537366-128537366

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2518G>A; p.G840R; 5:128361759-128361759

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.6908A>G; p.H2303R; 5:128286822-128286822

livercarcinomaSubstitution - Missense

c.737C>T; p.A246V; 5:128464813-128464813

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.8390T>C; p.V2797A; 5:128259804-128259804

oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2459T>C; p.L820P; 5:128361818-128361818

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.347G>A; p.R116K; 5:128530684-128530684

skin; neckmalignant_melanomaSubstitution - Missense

c.2261G>T; p.G754V; 5:128366418-128366418

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3680G>T; p.C1227F; 5:128336032-128336032

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.8114C>A; p.P2705H; 5:128263503-128263503

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2095+7G>A; p.?; 5:128374621-128374621

biliary_tract; gallbladdercarcinoma; adenocarcinomaUnknown

c.1377C>T; p.I459I; 5:128393223-128393223

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.3490C>T; p.R1164C; 5:128338105-128338105

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.3080G>C; p.C1027S; 5:128345494-128345494

lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.4288G>A; p.G1430S; 5:128330630-128330630

skin; extremitymalignant_melanomaSubstitution - Missense

c.3490C>T; p.R1164C; 5:128338105-128338105

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3080G>C; p.C1027S; 5:128345494-128345494

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2346G>C; p.G782G; 5:128364682-128364682

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.3341C>T; p.T1114M; 5:128344387-128344387

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.3341C>T; p.T1114M; 5:128344387-128344387

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.4775C>T; p.S1592F; 5:128312738-128312738

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.5063G>A; p.R1688H; 5:128311311-128311311

oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4231G>A; p.E1411K; 5:128330687-128330687

skinmalignant_melanomaSubstitution - Missense

c.4231G>A; p.E1411K; 5:128330687-128330687

skinmalignant_melanomaSubstitution - Missense

c.4231G>A; p.E1411K; 5:128330687-128330687

breastcarcinomaSubstitution - Missense

c.6114C>A; p.S2038S; 5:128300869-128300869

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1070G>A; p.R357Q; 5:128408682-128408682

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.5918-8G>T; p.?; 5:128301518-128301518

pancreascarcinomaUnknown

c.6617A>G; p.Y2206C; 5:128289147-128289147

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.4729G>T; p.G1577C; 5:128312784-128312784

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2007G>A; p.M669I; 5:128374716-128374716

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2219C>T; p.P740L; 5:128369211-128369211

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1786G>A; p.G596R; 5:128377815-128377815

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.5944_5945insT; p.G1982fs*11; 5:128301483-128301484

skin; head_neckcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.7255G>A; p.G2419S; 5:128278725-128278725

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.4307G>T; p.C1436F; 5:128330611-128330611

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2977C>G; p.R993G; 5:128349359-128349359

breastcarcinomaSubstitution - Missense

c.462G>A; p.M154I; 5:128527942-128527942

skinmalignant_melanomaSubstitution - Missense

c.6063C>T; p.V2021V; 5:128300920-128300920

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.6754G>A; p.E2252K; 5:128288441-128288441

pancreascarcinomaSubstitution - Missense

c.7004G>A; p.G2335D; 5:128286726-128286726

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.7267G>C; p.E2423Q; 5:128278713-128278713

urinary_tract; bladdercarcinomaSubstitution - Missense

c.2855C>T; p.T952M; 5:128349963-128349963

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.608C>A; p.T203N; 5:128519293-128519293

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.3476T>A; p.I1159N; 5:128338119-128338119

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.7324G>T; p.G2442*; 5:128278656-128278656

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.5745C>T; p.Y1915Y; 5:128305012-128305012

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.7542G>C; p.Q2514H; 5:128276090-128276090

skinmalignant_melanomaSubstitution - Missense

c.4675C>A; p.P1559T; 5:128318191-128318191

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1732G>A; p.E578K; 5:128377869-128377869

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3532G>A; p.E1178K; 5:128338063-128338063

oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.6747G>T; p.M2249I; 5:128288448-128288448

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3724G>C; p.D1242H; 5:128335988-128335988

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.5635G>A; p.A1879T; 5:128305550-128305550

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1084A>T; p.R362*; 5:128395269-128395269

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.8596G>A; p.G2866S; 5:128259598-128259598

pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.8058C>T; p.F2686F; 5:128263559-128263559

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.5220C>A; p.C1740*; 5:128309380-128309380

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.7369C>A; p.P2457T; 5:128277982-128277982

livercarcinomaSubstitution - Missense

c.5201-6A>G; p.?; 5:128309405-128309405

livercarcinomaUnknown

c.738G>A; p.A246A; 5:128464812-128464812

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.909C>T; p.C303C; 5:128446524-128446524

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.5201-6A>G; p.?; 5:128309405-128309405

livercarcinomaUnknown

c.738G>A; p.A246A; 5:128464812-128464812

central_nervous_system; braingliomaSubstitution - coding silent

c.5823T>C; p.H1941H; 5:128303067-128303067

thyroidother; neoplasmSubstitution - coding silent

c.5823T>C; p.H1941H; 5:128303067-128303067

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.851C>A; p.P284Q; 5:128446582-128446582

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.8329C>A; p.Q2777K; 5:128261771-128261771

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1525C>T; p.R509C; 5:128392096-128392096

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4625G>T; p.C1542F; 5:128318241-128318241

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.6391A>G; p.M2131V; 5:128290786-128290786

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1525C>T; p.R509C; 5:128392096-128392096

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.5047C>T; p.L1683F; 5:128311327-128311327

prostatecarcinomaSubstitution - Missense

c.8329C>A; p.Q2777K; 5:128261771-128261771

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3459G>A; p.M1153I; 5:128338946-128338946

stomachcarcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiableSubstitution - Missense

c.8436C>T; p.L2812L; 5:128259758-128259758

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.4690T>A; p.L1564M; 5:128318176-128318176

autonomic_ganglianeuroblastomaSubstitution - Missense

c.8436C>T; p.L2812L; 5:128259758-128259758

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.8734T>C; p.Y2912H; 5:128259460-128259460

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.6330T>C; p.N2110N; 5:128290847-128290847

livercarcinomaSubstitution - coding silent

c.2096-1G>C; p.?; 5:128369335-128369335

lung; right_upper_lobecarcinoma; adenocarcinomaUnknown

c.2192C>T; p.A731V; 5:128369238-128369238

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.7739C>T; p.S2580L; 5:128273941-128273941

thyroidother; neoplasmSubstitution - Missense

c.7739C>T; p.S2580L; 5:128273941-128273941

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.886G>C; p.V296L; 5:128446547-128446547

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1042G>T; p.G348*; 5:128408710-128408710

lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.4750G>A; p.G1584R; 5:128312763-128312763

skinmalignant_melanomaSubstitution - Missense

c.4471+1G>A; p.?; 5:128328695-128328695

lung; right_upper_lobecarcinoma; adenocarcinomaUnknown

c.7659_7660insG; p.F2554fs*4; 5:128274618-128274619

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.5667C>A; p.A1889A; 5:128305518-128305518

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1858G>A; p.E620K; 5:128376845-128376845

breastcarcinomaSubstitution - Missense

c.6709T>A; p.C2237S; 5:128288486-128288486

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.191G>T; p.R64L; 5:128537413-128537413

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.7659_7660insG; p.F2554fs*4; 5:128274618-128274619

oesophagus; lower_thirdcarcinoma; adenocarcinomaInsertion - Frameshift

c.7659_7660insG; p.F2554fs*4; 5:128274618-128274619

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.6344T>C; p.V2115A; 5:128290833-128290833

livercarcinomaSubstitution - Missense

c.7013-5T>C; p.?; 5:128280322-128280322

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.3439G>A; p.E1147K; 5:128338966-128338966

skinmalignant_melanomaSubstitution - Missense

c.8274C>T; p.S2758S; 5:128261826-128261826

livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.1972+1G>T; p.?; 5:128376730-128376730

ovaryother; neoplasmUnknown

c.2317G>C; p.A773P; 5:128364711-128364711

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.7250G>T; p.G2417V; 5:128278730-128278730

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3200G>T; p.G1067V; 5:128345374-128345374

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1972+1G>T; p.?; 5:128376730-128376730

ovaryother; neoplasmUnknown

c.1972+1G>T; p.?; 5:128376730-128376730

ovaryother; neoplasmUnknown

c.1972+1G>T; p.?; 5:128376730-128376730

ovaryother; neoplasmUnknown

c.2990-3T>C; p.?; 5:128345587-128345587

lungcarcinoma; squamous_cell_carcinomaUnknown

c.1395T>C; p.N465N; 5:128393205-128393205

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.7422C>T; p.C2474C; 5:128277929-128277929

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.4786G>T; p.E1596*; 5:128312727-128312727

upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.4211T>G; p.I1404S; 5:128332923-128332923

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.5949_5950GG>AA; p.V1984M; 5:128301478-128301479

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4059G>T; p.Q1353H; 5:128334759-128334759

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.5205G>A; p.M1735I; 5:128309395-128309395

skinmalignant_melanomaSubstitution - Missense

c.2965G>T; p.D989Y; 5:128349371-128349371

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1969A>G; p.T657A; 5:128376734-128376734

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.7659delG; p.F2554fs*57; 5:128274619-128274619

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.7659delG; p.F2554fs*57; 5:128274619-128274619

livercarcinomaDeletion - Frameshift

c.6039C>T; p.N2013N; 5:128301389-128301389

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.7118C>A; p.S2373Y; 5:128280212-128280212

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.7659delG; p.F2554fs*57; 5:128274619-128274619

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.7118C>A; p.S2373Y; 5:128280212-128280212

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2771T>A; p.L924H; 5:128350909-128350909

breastcarcinomaSubstitution - Missense

c.5890G>C; p.E1964Q; 5:128303000-128303000

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3149C>T; p.T1050M; 5:128345425-128345425

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3149C>T; p.T1050M; 5:128345425-128345425

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.111G>A; p.P37P; 5:128537493-128537493

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.5884G>A; p.G1962R; 5:128303006-128303006

skinmalignant_melanomaSubstitution - Missense

c.2233C>T; p.P745S; 5:128369197-128369197

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3544C>T; p.Q1182*; 5:128338051-128338051

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.6355T>G; p.F2119V; 5:128290822-128290822

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2686G>A; p.G896R; 5:128350994-128350994

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.111G>A; p.P37P; 5:128537493-128537493

thyroidother; neoplasmSubstitution - coding silent

c.4274G>A; p.C1425Y; 5:128330644-128330644

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.111G>A; p.P37P; 5:128537493-128537493

thyroidother; neoplasmSubstitution - coding silent

c.5884G>A; p.G1962R; 5:128303006-128303006

skinmalignant_melanomaSubstitution - Missense

c.111G>A; p.P37P; 5:128537493-128537493

thyroidother; neoplasmSubstitution - coding silent

c.7004G>T; p.G2335V; 5:128286726-128286726

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.7558G>A; p.G2520R; 5:128276074-128276074

skinmalignant_melanomaSubstitution - Missense

c.3324G>T; p.M1108I; 5:128344404-128344404

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2345_2346GG>AA; p.G782E; 5:128364682-128364683

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.8253C>T; p.V2751V; 5:128261847-128261847

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.6255_6256insT; p.G2086fs*6; 5:128291565-128291566

livercarcinomaInsertion - Frameshift

c.1898T>C; p.I633T; 5:128376805-128376805

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3894G>C; p.Q1298H; 5:128335249-128335249

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.4879+1G>T; p.?; 5:128312633-128312633

lungcarcinoma; adenocarcinomaUnknown

c.3639T>C; p.N1213N; 5:128336073-128336073

livercarcinomaSubstitution - coding silent

c.8254G>A; p.D2752N; 5:128261846-128261846

urinary_tract; bladdercarcinomaSubstitution - Missense

c.192C>T; p.R64R; 5:128537412-128537412

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.4287G>A; p.P1429P; 5:128330631-128330631

pancreascarcinoma; ductal_carcinomaSubstitution - coding silent

c.192C>T; p.R64R; 5:128537412-128537412

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.6930G>A; p.M2310I; 5:128286800-128286800

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.8254G>A; p.D2752N; 5:128261846-128261846

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.3717C>T; p.G1239G; 5:128335995-128335995

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.4287G>A; p.P1429P; 5:128330631-128330631

pancreascarcinomaSubstitution - coding silent

c.6086C>T; p.P2029L; 5:128300897-128300897

skin; handcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2620A>C; p.N874H; 5:128357330-128357330

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.2872G>T; p.E958*; 5:128349464-128349464

oesophaguscarcinoma; adenocarcinomaSubstitution - Nonsense

c.2052T>C; p.C684C; 5:128374671-128374671

prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.4844G>A; p.G1615E; 5:128312669-128312669

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.7636C>A; p.L2546I; 5:128274642-128274642

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1769G>A; p.R590Q; 5:128377832-128377832

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.5237G>A; p.G1746E; 5:128309363-128309363

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2179G>A; p.E727K; 5:128369251-128369251

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.7530G>A; p.E2510E; 5:128276102-128276102

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2249C>T; p.A750V; 5:128366430-128366430

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.5849delA; p.N1950fs*25; 5:128303041-128303041

skinmalignant_melanomaDeletion - Frameshift

c.8686C>T; p.L2896L; 5:128259508-128259508

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.3226G>A; p.E1076K; 5:128344502-128344502

breastcarcinomaSubstitution - Missense

c.3563G>T; p.G1188V; 5:128338032-128338032

kidneyother; neoplasmSubstitution - Missense

c.1627C>A; p.P543T; 5:128378867-128378867

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1769G>A; p.R590Q; 5:128377832-128377832

skinmalignant_melanomaSubstitution - Missense

c.320G>A; p.G107E; 5:128536419-128536419

biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.704C>T; p.T235M; 5:128464846-128464846

central_nervous_system; braingliomaSubstitution - Missense

c.2633C>T; p.S878L; 5:128357317-128357317

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.704C>T; p.T235M; 5:128464846-128464846

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

c.320G>A; p.G107E; 5:128536419-128536419

biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.5673A>G; p.V1891V; 5:128305512-128305512

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.526G>A; p.G176R; 5:128527878-128527878

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.6202C>A; p.L2068I; 5:128291619-128291619

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1753C>A; p.L585I; 5:128377848-128377848

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.6424C>T; p.L2142L; 5:128290753-128290753

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.3150G>A; p.T1050T; 5:128345424-128345424

pancreascarcinomaSubstitution - coding silent

c.7192G>A; p.A2398T; 5:128278788-128278788

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.7192G>A; p.A2398T; 5:128278788-128278788

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.4758A>G; p.R1586R; 5:128312755-128312755

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.7580G>T; p.G2527V; 5:128276052-128276052

breastcarcinomaSubstitution - Missense

c.1438G>T; p.G480*; 5:128393162-128393162

lungcarcinoma; small_cell_carcinomaSubstitution - Nonsense

c.4555G>A; p.D1519N; 5:128318918-128318918

skin; extremitymalignant_melanomaSubstitution - Missense

c.2969G>T; p.G990V; 5:128349367-128349367

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.5333C>T; p.P1778L; 5:128309267-128309267

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.8498G>A; p.R2833H; 5:128259696-128259696

large_intestine; colonNSSubstitution - Missense

c.7197C>G; p.S2399S; 5:128278783-128278783

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.8498G>A; p.R2833H; 5:128259696-128259696

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4878C>T; p.S1626S; 5:128312635-128312635

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.4551C>T; p.C1517C; 5:128318922-128318922

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.630T>A; p.D210E; 5:128464920-128464920

biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - Missense

c.6858G>A; p.R2286R; 5:128287330-128287330

skinmalignant_melanomaSubstitution - coding silent

c.7012+7G>A; p.?; 5:128286711-128286711

biliary_tract; gallbladdercarcinoma; adenocarcinomaUnknown

c.7660T>G; p.F2554V; 5:128274618-128274618

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.8510C>T; p.S2837F; 5:128259684-128259684

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3762C>A; p.D1254E; 5:128335540-128335540

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.2754T>C; p.S918S; 5:128350926-128350926

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.7320C>A; p.G2440G; 5:128278660-128278660

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1418G>A; p.G473E; 5:128393182-128393182

skinmalignant_melanomaSubstitution - Missense

c.1526G>A; p.R509H; 5:128392095-128392095

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3045C>T; p.P1015P; 5:128345529-128345529

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - coding silent

c.2075T>A; p.M692K; 5:128374648-128374648

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.4862G>A; p.C1621Y; 5:128312651-128312651

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1727T>A; p.I576N; 5:128377874-128377874

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1612G>A; p.E538K; 5:128378882-128378882

skinmalignant_melanomaSubstitution - Missense

c.745C>G; p.H249D; 5:128464805-128464805

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.626G>C; p.R209T; 5:128519275-128519275

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.6840G>C; p.P2280P; 5:128287348-128287348

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.515G>A; p.G172E; 5:128527889-128527889

skinmalignant_melanomaSubstitution - Missense

c.2532G>A; p.R844R; 5:128361745-128361745

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.3241C>T; p.P1081S; 5:128344487-128344487

skinmalignant_melanomaSubstitution - Missense

c.4153C>A; p.L1385M; 5:128332981-128332981

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.849C>A; p.I283I; 5:128446584-128446584

prostatecarcinomaSubstitution - coding silent

c.8045C>T; p.S2682L; 5:128263572-128263572

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; polycythaemia_veraSubstitution - Missense

c.3001G>T; p.E1001*; 5:128345573-128345573

biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Nonsense

c.4799G>C; p.G1600A; 5:128312714-128312714

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.5352A>T; p.T1784T; 5:128309248-128309248

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.2797G>T; p.E933*; 5:128350883-128350883

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.806T>C; p.I269T; 5:128464744-128464744

bone; fibulaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.5671G>A; p.V1891I; 5:128305514-128305514

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.5817G>A; p.E1939E; 5:128303073-128303073

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.359G>T; p.G120V; 5:128530672-128530672

livercarcinomaSubstitution - Missense

c.4349T>C; p.V1450A; 5:128328818-128328818

skinmalignant_melanomaSubstitution - Missense

c.4035G>T; p.K1345N; 5:128334783-128334783

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1232-1G>T; p.?; 5:128393369-128393369

lungcarcinoma; squamous_cell_carcinomaUnknown

c.6990G>A; p.R2330R; 5:128286740-128286740

skinmalignant_melanomaSubstitution - coding silent

c.893C>A; p.S298Y; 5:128446540-128446540

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3710G>T; p.R1237L; 5:128336002-128336002

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.2036C>T; p.S679F; 5:128374687-128374687

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3710G>T; p.R1237L; 5:128336002-128336002

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.8124C>T; p.Y2708Y; 5:128263493-128263493

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1972+7G>A; p.?; 5:128376724-128376724

livercarcinomaUnknown

c.39C>T; p.F13F; 5:128537565-128537565

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2480G>A; p.R827Q; 5:128361797-128361797

breastcarcinomaSubstitution - Missense

c.1972+7G>A; p.?; 5:128376724-128376724

livercarcinomaUnknown

c.7973G>A; p.C2658Y; 5:128263644-128263644

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.5963G>A; p.G1988E; 5:128301465-128301465

skinmalignant_melanomaSubstitution - Missense

c.8644G>A; p.E2882K; 5:128259550-128259550

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.7021G>A; p.E2341K; 5:128280309-128280309

skinmalignant_melanomaSubstitution - Missense

c.39C>T; p.F13F; 5:128537565-128537565

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1231+9C>T; p.?; 5:128395113-128395113

livercarcinomaUnknown

c.1396G>A; p.G466S; 5:128393204-128393204

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.368T>G; p.F123C; 5:128530663-128530663

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4741C>A; p.L1581M; 5:128312772-128312772

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1231+9C>T; p.?; 5:128395113-128395113

livercarcinomaUnknown

c.1748G>T; p.G583V; 5:128377853-128377853

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.4538T>A; p.F1513Y; 5:128318935-128318935

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1748G>T; p.G583V; 5:128377853-128377853

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1396G>A; p.G466S; 5:128393204-128393204

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1748G>T; p.G583V; 5:128377853-128377853

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.4793G>A; p.G1598E; 5:128312720-128312720

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2202C>T; p.D734D; 5:128369228-128369228

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2391T>A; p.S797R; 5:128364637-128364637

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2868T>G; p.V956V; 5:128349468-128349468

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.7282C>T; p.P2428S; 5:128278698-128278698

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2814T>C; p.D938D; 5:128350004-128350004

livercarcinomaSubstitution - coding silent

c.7466G>T; p.C2489F; 5:128277885-128277885

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.4986G>A; p.Q1662Q; 5:128311388-128311388

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2814T>C; p.D938D; 5:128350004-128350004

livercarcinomaSubstitution - coding silent

c.2692T>A; p.C898S; 5:128350988-128350988

livercarcinomaSubstitution - Missense

c.2692T>A; p.C898S; 5:128350988-128350988

livercarcinomaSubstitution - Missense

c.5966G>A; p.R1989H; 5:128301462-128301462

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3793G>A; p.E1265K; 5:128335509-128335509

skinmalignant_melanomaSubstitution - Missense

c.6907C>A; p.H2303N; 5:128286823-128286823

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.7560G>T; p.G2520G; 5:128276072-128276072

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.901T>G; p.C301G; 5:128446532-128446532

skinmalignant_melanomaSubstitution - Missense

c.738G>C; p.A246A; 5:128464812-128464812

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.8067C>A; p.F2689L; 5:128263550-128263550

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.8140G>T; p.E2714*; 5:128263477-128263477

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.5348G>A; p.G1783E; 5:128309252-128309252

breastcarcinomaSubstitution - Missense

c.1768C>T; p.R590*; 5:128377833-128377833

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.8275C>A; p.P2759T; 5:128261825-128261825

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.3363T>A; p.I1121I; 5:128339042-128339042

skinmalignant_melanomaSubstitution - coding silent

c.4210A>G; p.I1404V; 5:128332924-128332924

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.8138C>T; p.T2713M; 5:128263479-128263479

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.107A>G; p.K36R; 5:128537497-128537497

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.4594+1G>C; p.?; 5:128318878-128318878

thyroidcarcinomaUnknown

c.6281G>A; p.R2094Q; 5:128291540-128291540

skin; handcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.6075C>A; p.G2025G; 5:128300908-128300908

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.6177A>C; p.E2059D; 5:128291644-128291644

prostateadenomaSubstitution - Missense

c.7657G>A; p.G2553R; 5:128274621-128274621

skinmalignant_melanomaSubstitution - Missense

c.2715C>A; p.S905R; 5:128350965-128350965

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.7674T>C; p.C2558C; 5:128274604-128274604

autonomic_ganglianeuroblastomaSubstitution - coding silent

c.607A>G; p.T203A; 5:128519294-128519294

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.5522A>G; p.Y1841C; 5:128305849-128305849

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1439G>T; p.G480V; 5:128393161-128393161

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.4793G>T; p.G1598V; 5:128312720-128312720

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.5522A>G; p.Y1841C; 5:128305849-128305849

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.886G>T; p.V296L; 5:128446547-128446547

biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - Missense

c.1030G>T; p.V344F; 5:128408722-128408722

livercarcinomaSubstitution - Missense

c.7748G>A; p.G2583E; 5:128273932-128273932

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.4589G>T; p.C1530F; 5:128318884-128318884

oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3584G>T; p.R1195L; 5:128338011-128338011

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.5228G>T; p.S1743I; 5:128309372-128309372

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3955G>A; p.D1319N; 5:128335188-128335188

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2486C>T; p.T829M; 5:128361791-128361791

oesophaguscarcinomaSubstitution - Missense

c.7538A>T; p.Y2513F; 5:128276094-128276094

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2486C>T; p.T829M; 5:128361791-128361791

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3584G>T; p.R1195L; 5:128338011-128338011

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1642G>A; p.D548N; 5:128378852-128378852

skinmalignant_melanomaSubstitution - Missense

c.2374C>A; p.R792S; 5:128364654-128364654

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.7959C>T; p.V2653V; 5:128272000-128272000

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.7959C>T; p.V2653V; 5:128272000-128272000

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.6105G>A; p.L2035L; 5:128300878-128300878

skinmalignant_melanomaSubstitution - coding silent

c.428C>T; p.S143L; 5:128530603-128530603

skinmalignant_melanomaSubstitution - Missense

c.3749A>G; p.N1250S; 5:128335553-128335553

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1465A>C; p.T489P; 5:128393135-128393135

skinmalignant_melanomaSubstitution - Missense

c.2995C>T; p.R999C; 5:128345579-128345579

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2995C>T; p.R999C; 5:128345579-128345579

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2995C>T; p.R999C; 5:128345579-128345579

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2995C>T; p.R999C; 5:128345579-128345579

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.606C>A; p.F202L; 5:128519295-128519295

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.4771C>A; p.L1591M; 5:128312742-128312742

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2755G>A; p.E919K; 5:128350925-128350925

skinmalignant_melanomaSubstitution - Missense

c.2150G>A; p.R717H; 5:128369280-128369280

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.4387G>T; p.G1463*; 5:128328780-128328780

autonomic_ganglianeuroblastomaSubstitution - Nonsense

c.2150G>A; p.R717H; 5:128369280-128369280

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.7221G>A; p.K2407K; 5:128278759-128278759

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.8497C>A; p.R2833S; 5:128259697-128259697

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.6800G>A; p.R2267H; 5:128287388-128287388

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.7374C>T; p.N2458N; 5:128277977-128277977

skinmalignant_melanomaSubstitution - coding silent

c.7355A>C; p.E2452A; 5:128277996-128277996

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.8520C>T; p.N2840N; 5:128259674-128259674

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.754G>C; p.E252Q; 5:128464796-128464796

urinary_tract; bladdercarcinomaSubstitution - Missense

c.5451C>T; p.G1817G; 5:128305920-128305920

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2063T>A; p.L688Q; 5:128374660-128374660

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.6554G>A; p.G2185D; 5:128289210-128289210

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.7710C>T; p.I2570I; 5:128274568-128274568

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.5244T>C; p.T1748T; 5:128309356-128309356

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.4540C>A; p.H1514N; 5:128318933-128318933

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4558G>A; p.G1520S; 5:128318915-128318915

urinary_tract; bladdercarcinomaSubstitution - Missense

c.4244G>A; p.G1415E; 5:128330674-128330674

skinmalignant_melanomaSubstitution - Missense

c.1620A>T; p.T540T; 5:128378874-128378874

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1592G>C; p.G531A; 5:128392029-128392029

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1851T>C; p.D617D; 5:128376852-128376852

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.3162C>T; p.R1054R; 5:128345412-128345412

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.3491G>A; p.R1164H; 5:128338104-128338104

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1640G>T; p.G547V; 5:128378854-128378854

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1997G>A; p.G666E; 5:128374726-128374726

skinmalignant_melanomaSubstitution - Missense

c.5031C>T; p.C1677C; 5:128311343-128311343

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.6924G>A; p.R2308R; 5:128286806-128286806

prostatecarcinomaSubstitution - coding silent

c.5677C>T; p.R1893C; 5:128305080-128305080

skinmalignant_melanomaSubstitution - Missense

c.4862G>T; p.C1621F; 5:128312651-128312651

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.5677C>T; p.R1893C; 5:128305080-128305080

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1670A>G; p.Y557C; 5:128378824-128378824

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.5677C>T; p.R1893C; 5:128305080-128305080

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.7855G>T; p.D2619Y; 5:128272104-128272104

breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.7862A>C; p.N2621T; 5:128272097-128272097

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.8085C>T; p.D2695D; 5:128263532-128263532

large_intestine; colonNSSubstitution - coding silent

c.8216T>G; p.F2739C; 5:128261884-128261884

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.3618G>C; p.L1206L; 5:128336094-128336094

livercarcinomaSubstitution - coding silent

c.3618G>C; p.L1206L; 5:128336094-128336094

livercarcinomaSubstitution - coding silent

c.8085C>T; p.D2695D; 5:128263532-128263532

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.5478C>T; p.N1826N; 5:128305893-128305893

bone; vertebraeEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.6986G>T; p.R2329L; 5:128286744-128286744

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.6948C>A; p.I2316I; 5:128286782-128286782

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.5586G>T; p.Q1862H; 5:128305599-128305599

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.5478C>T; p.N1826N; 5:128305893-128305893

bone; vertebraeEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.2938T>A; p.C980S; 5:128349398-128349398

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1151C>T; p.T384M; 5:128395202-128395202

haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.5950G>C; p.V1984L; 5:128301478-128301478

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2047G>A; p.D683N; 5:128374676-128374676

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.866G>A; p.G289E; 5:128446567-128446567

skinmalignant_melanomaSubstitution - Missense

c.3193C>A; p.L1065I; 5:128345381-128345381

skin; upper_backmalignant_melanomaSubstitution - Missense

c.5200G>T; p.D1734Y; 5:128309983-128309983

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.5200G>T; p.D1734Y; 5:128309983-128309983

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.7204C>A; p.R2402S; 5:128278776-128278776

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.5200G>T; p.D1734Y; 5:128309983-128309983

large_intestine; coloncarcinomaSubstitution - Missense

c.5200G>T; p.D1734Y; 5:128309983-128309983

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.5200G>T; p.D1734Y; 5:128309983-128309983

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.8084A>G; p.D2695G; 5:128263533-128263533

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.7690C>T; p.Q2564*; 5:128274588-128274588

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.3199G>C; p.G1067R; 5:128345375-128345375

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.532+1G>A; p.?; 5:128527871-128527871

breastcarcinomaUnknown

c.4407G>A; p.P1469P; 5:128328760-128328760

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.4407G>A; p.P1469P; 5:128328760-128328760

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.3199G>T; p.G1067W; 5:128345375-128345375

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.4407G>A; p.P1469P; 5:128328760-128328760

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.5704G>A; p.V1902I; 5:128305053-128305053

skinmalignant_melanomaSubstitution - Missense

c.2487G>T; p.T829T; 5:128361790-128361790

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3945G>A; p.M1315I; 5:128335198-128335198

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3508A>T; p.R1170W; 5:128338087-128338087

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1537A>T; p.T513S; 5:128392084-128392084

skinmalignant_melanomaSubstitution - Missense

c.1537A>T; p.T513S; 5:128392084-128392084

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3945G>A; p.M1315I; 5:128335198-128335198

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.6723A>G; p.E2241E; 5:128288472-128288472

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.4577C>A; p.T1526K; 5:128318896-128318896

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1378C>T; p.P460S; 5:128393222-128393222

skinmalignant_melanomaSubstitution - Missense

c.3724+1G>T; p.?; 5:128335987-128335987

lungcarcinoma; squamous_cell_carcinomaUnknown

c.2637C>A; p.P879P; 5:128357313-128357313

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.532C>T; p.P178S; 5:128527872-128527872

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.4785C>T; p.T1595T; 5:128312728-128312728

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.4807C>T; p.R1603C; 5:128312706-128312706

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.6412delG; p.D2138fs*111; 5:128290765-128290765

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1411G>A; p.V471I; 5:128393189-128393189

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.4785C>A; p.T1595T; 5:128312728-128312728

prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.1411G>A; p.V471I; 5:128393189-128393189

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1411G>A; p.V471I; 5:128393189-128393189

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1989G>A; p.Q663Q; 5:128374734-128374734

ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.1411G>A; p.V471I; 5:128393189-128393189

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1411G>A; p.V471I; 5:128393189-128393189

pancreascarcinomaSubstitution - Missense

c.2416A>C; p.R806R; 5:128364612-128364612

livercarcinomaSubstitution - coding silent

c.3136A>G; p.K1046E; 5:128345438-128345438

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.921C>A; p.H307Q; 5:128446512-128446512

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1411G>A; p.V471I; 5:128393189-128393189

large_intestine; colonNSSubstitution - Missense

c.1364G>A; p.G455E; 5:128393236-128393236

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4259G>T; p.S1420I; 5:128330659-128330659

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.8225G>C; p.G2742A; 5:128261875-128261875

pancreascarcinomaSubstitution - Missense

c.1364G>A; p.G455E; 5:128393236-128393236

skinmalignant_melanomaSubstitution - Missense

c.1364G>A; p.G455E; 5:128393236-128393236

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4259G>T; p.S1420I; 5:128330659-128330659

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2194A>G; p.N732D; 5:128369236-128369236

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3020G>T; p.W1007L; 5:128345554-128345554

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1589A>T; p.N530I; 5:128392032-128392032

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1422C>T; p.A474A; 5:128393178-128393178

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3771C>A; p.C1257*; 5:128335531-128335531

livercarcinomaSubstitution - Nonsense

c.3771C>A; p.C1257*; 5:128335531-128335531

livercarcinomaSubstitution - Nonsense

c.5582G>T; p.C1861F; 5:128305603-128305603

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.728T>C; p.I243T; 5:128464822-128464822

prostateadenomaSubstitution - Missense

c.6573C>A; p.D2191E; 5:128289191-128289191

haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; follicular_lymphomaSubstitution - Missense

c.531A>C; p.Q177H; 5:128527873-128527873

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.1659T>C; p.P553P; 5:128378835-128378835

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.728T>C; p.I243T; 5:128464822-128464822

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.533-2A>C; p.?; 5:128519370-128519370

stomachcarcinoma; adenocarcinomaUnknown

c.1481C>A; p.T494K; 5:128392140-128392140

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.6573C>A; p.D2191E; 5:128289191-128289191

haematopoietic_and_lymphoid_tissue; spleenlymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.7547C>T; p.S2516L; 5:128276085-128276085

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.6282G>A; p.R2094R; 5:128291539-128291539

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.4493A>G; p.Q1498R; 5:128318980-128318980

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3480C>T; p.D1160D; 5:128338115-128338115

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2863+1G>A; p.?; 5:128349954-128349954

lung; right_upper_lobecarcinoma; adenocarcinomaUnknown

c.8146G>T; p.G2716C; 5:128263471-128263471

livercarcinomaSubstitution - Missense

c.809G>A; p.R270H; 5:128464741-128464741

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.809G>A; p.R270H; 5:128464741-128464741

central_nervous_system; braingliomaSubstitution - Missense

c.8146G>T; p.G2716C; 5:128263471-128263471

livercarcinomaSubstitution - Missense

c.3409A>G; p.S1137G; 5:128338996-128338996

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelofibrosisSubstitution - Missense

c.1394A>C; p.N465T; 5:128393206-128393206

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.5950G>A; p.V1984M; 5:128301478-128301478

thyroidcarcinomaSubstitution - Missense

c.2257C>T; p.H753Y; 5:128366422-128366422

skinmalignant_melanomaSubstitution - Missense

c.3021G>T; p.W1007C; 5:128345553-128345553

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.3870T>C; p.N1290N; 5:128335273-128335273

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - coding silent

c.6834G>A; p.T2278T; 5:128287354-128287354

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1936G>A; p.G646R; 5:128376767-128376767

pancreascarcinomaSubstitution - Missense

c.1143delG; p.R382fs*2; 5:128395210-128395210

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.3867C>T; p.N1289N; 5:128335276-128335276

livercarcinomaSubstitution - coding silent

c.8452A>G; p.I2818V; 5:128259742-128259742

biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - Missense

c.193G>A; p.E65K; 5:128537411-128537411

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2936A>G; p.H979R; 5:128349400-128349400

salivary_glandcarcinoma; adenoid_cystic_carcinomaSubstitution - Missense

c.6610C>T; p.L2204F; 5:128289154-128289154

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.898G>C; p.E300Q; 5:128446535-128446535

lung; middle_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2723A>G; p.E908G; 5:128350957-128350957

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.5459C>A; p.A1820E; 5:128305912-128305912

autonomic_ganglianeuroblastomaSubstitution - Missense

c.7418G>T; p.R2473L; 5:128277933-128277933

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.5957G>T; p.R1986I; 5:128301471-128301471

breastcarcinomaSubstitution - Missense

c.2246C>T; p.S749L; 5:128369184-128369184

skin; trunkmalignant_melanoma; nodularSubstitution - Missense

c.8688A>T; p.L2896L; 5:128259506-128259506

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent