| 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 |
skin | malignant_melanoma | Substitution - coding silent |
c.2027G>T; p.S676I; 5:128374696-128374696 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.8385G>T; p.E2795D; 5:128259809-128259809 |
liver | carcinoma | Substitution - Missense |
c.5520T>G; p.S1840R; 5:128305851-128305851 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3420C>T; p.C1140C; 5:128338985-128338985 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.6787C>A; p.L2263M; 5:128287401-128287401 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.6762C>G; p.I2254M; 5:128287426-128287426 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1569G>T; p.M523I; 5:128392052-128392052 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2469C>T; p.N823N; 5:128361808-128361808 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.2469C>T; p.N823N; 5:128361808-128361808 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1152G>A; p.T384T; 5:128395201-128395201 |
skin | malignant_melanoma | Substitution - coding silent |
c.7720G>A; p.E2574K; 5:128273960-128273960 |
skin | malignant_melanoma | Substitution - Missense |
c.8385G>T; p.E2795D; 5:128259809-128259809 |
liver | carcinoma | Substitution - Missense |
c.6762C>G; p.I2254M; 5:128287426-128287426 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.3139G>A; p.E1047K; 5:128345435-128345435 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.7824C>T; p.T2608T; 5:128273856-128273856 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.5138G>A; p.G1713E; 5:128310045-128310045 |
skin; neck | malignant_melanoma | Substitution - Missense |
c.5138G>A; p.G1713E; 5:128310045-128310045 |
NS | malignant_melanoma | Substitution - Missense |
c.5138G>A; p.G1713E; 5:128310045-128310045 |
NS | malignant_melanoma | Substitution - Missense |
c.5138G>A; p.G1713E; 5:128310045-128310045 |
skin | malignant_melanoma | Substitution - Missense |
c.4709G>T; p.G1570V; 5:128318157-128318157 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.4636C>A; p.L1546I; 5:128318230-128318230 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2559A>G; p.I853M; 5:128357391-128357391 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4786G>A; p.E1596K; 5:128312727-128312727 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3754_3755GG>AA; p.G1252>?; 5:128335547-128335548 |
skin; trunk | malignant_melanoma | Complex |
c.4868delC; p.P1623fs*26; 5:128312645-128312645 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.7204C>T; p.R2402C; 5:128278776-128278776 |
prostate | carcinoma | Substitution - Missense |
c.4868delC; p.P1623fs*26; 5:128312645-128312645 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.5972T>A; p.F1991Y; 5:128301456-128301456 |
skin | malignant_melanoma | Substitution - Missense |
c.4062G>C; p.L1354L; 5:128334756-128334756 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.8232C>G; p.Y2744*; 5:128261868-128261868 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.6831C>T; p.C2277C; 5:128287357-128287357 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5350A>G; p.T1784A; 5:128309250-128309250 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.8289C>T; p.Y2763Y; 5:128261811-128261811 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6878A>G; p.K2293R; 5:128287310-128287310 |
skin | malignant_melanoma | Substitution - Missense |
c.6439G>C; p.D2147H; 5:128290738-128290738 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.6910G>A; p.D2304N; 5:128286820-128286820 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4654G>T; p.G1552C; 5:128318212-128318212 |
liver | carcinoma | Substitution - Missense |
c.4654G>T; p.G1552C; 5:128318212-128318212 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.4587C>T; p.N1529N; 5:128318886-128318886 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1138C>A; p.P380T; 5:128395215-128395215 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.6122G>T; p.C2041F; 5:128300861-128300861 |
liver | carcinoma | Substitution - Missense |
c.2760C>T; p.C920C; 5:128350920-128350920 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2960C>T; p.T987M; 5:128349376-128349376 |
prostate | carcinoma | Substitution - Missense |
c.1138C>A; p.P380T; 5:128395215-128395215 |
liver | carcinoma | Substitution - Missense |
c.4869T>A; p.P1623P; 5:128312644-128312644 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.5201-1G>C; p.?; 5:128309400-128309400 |
breast | carcinoma | Unknown |
c.8497C>T; p.R2833C; 5:128259697-128259697 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5024G>T; p.C1675F; 5:128311350-128311350 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1434C>T; p.A478A; 5:128393166-128393166 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5808T>C; p.D1936D; 5:128303082-128303082 |
thyroid | carcinoma | Substitution - coding silent |
c.6704T>A; p.F2235Y; 5:128288491-128288491 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.6411G>A; p.G2137G; 5:128290766-128290766 |
skin | malignant_melanoma | Substitution - coding silent |
c.3943A>G; p.M1315V; 5:128335200-128335200 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1172A>T; p.E391V; 5:128395181-128395181 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.6269C>A; p.S2090Y; 5:128291552-128291552 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable | Substitution - Missense |
c.6460T>G; p.L2154V; 5:128289933-128289933 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.5492T>C; p.F1831S; 5:128305879-128305879 |
stomach | adenocarcinoma | Substitution - Missense |
c.79G>A; p.A27T; 5:128537525-128537525 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1973A>G; p.D658G; 5:128374750-128374750 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3218-3_3218-2insT; p.?; 5:128344512-128344513 |
liver | carcinoma | Unknown |
c.3218-3_3218-2insT; p.?; 5:128344512-128344513 |
liver | carcinoma | Unknown |
c.5243C>T; p.T1748I; 5:128309357-128309357 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1244G>A; p.R415K; 5:128393356-128393356 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5815G>A; p.E1939K; 5:128303075-128303075 |
skin | malignant_melanoma | Substitution - Missense |
c.6994G>A; p.D2332N; 5:128286736-128286736 |
skin | malignant_melanoma | Substitution - Missense |
c.8117G>T; p.C2706F; 5:128263500-128263500 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.7485C>T; p.C2495C; 5:128276147-128276147 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4634G>A; p.G1545D; 5:128318232-128318232 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6633T>C; p.C2211C; 5:128289131-128289131 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.5815G>A; p.E1939K; 5:128303075-128303075 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1237T>C; p.Y413H; 5:128393363-128393363 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.3104C>A; p.T1035N; 5:128345470-128345470 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2149C>T; p.R717C; 5:128369281-128369281 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3061C>T; p.R1021C; 5:128345513-128345513 |
skin | malignant_melanoma | Substitution - Missense |
c.2017T>A; p.C673S; 5:128374706-128374706 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5209A>T; p.K1737*; 5:128309391-128309391 |
skin | malignant_melanoma | Substitution - Nonsense |
c.2149C>T; p.R717C; 5:128369281-128369281 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.6297T>C; p.T2099T; 5:128290880-128290880 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3182G>A; p.R1061Q; 5:128345392-128345392 |
skin | malignant_melanoma | Substitution - Missense |
c.1432G>A; p.A478T; 5:128393168-128393168 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.8461C>A; p.L2821I; 5:128259733-128259733 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.8086G>A; p.V2696M; 5:128263531-128263531 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.7554G>T; p.P2518P; 5:128276078-128276078 |
liver | carcinoma | Substitution - coding silent |
c.3369T>A; p.P1123P; 5:128339036-128339036 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.5562C>T; p.C1854C; 5:128305623-128305623 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3373C>T; p.L1125F; 5:128339032-128339032 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.8226G>A; p.G2742G; 5:128261874-128261874 |
breast | carcinoma | Substitution - coding silent |
c.2575A>G; p.N859D; 5:128357375-128357375 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4324G>A; p.G1442S; 5:128330594-128330594 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.7756G>A; p.G2586R; 5:128273924-128273924 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1194C>T; p.I398I; 5:128395159-128395159 |
skin | malignant_melanoma | Substitution - coding silent |
c.7607G>A; p.C2536Y; 5:128274671-128274671 |
pancreas | carcinoma | Substitution - Missense |
c.4134C>T; p.C1378C; 5:128333000-128333000 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3728T>C; p.I1243T; 5:128335574-128335574 |
ovary | other; neoplasm | Substitution - Missense |
c.8658G>T; p.L2886L; 5:128259536-128259536 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.743G>C; p.G248A; 5:128464807-128464807 |
liver | carcinoma | Substitution - Missense |
c.2979T>C; p.R993R; 5:128349357-128349357 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.6185A>T; p.E2062V; 5:128291636-128291636 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.4082G>A; p.G1361E; 5:128334736-128334736 |
skin | malignant_melanoma | Substitution - Missense |
c.4471G>T; p.D1491Y; 5:128328696-128328696 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1361G>A; p.G454E; 5:128393239-128393239 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.3187G>A; p.D1063N; 5:128345387-128345387 |
skin | malignant_melanoma | Substitution - Missense |
c.3342G>A; p.T1114T; 5:128344386-128344386 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3839C>T; p.S1280L; 5:128335463-128335463 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5094A>T; p.A1698A; 5:128310089-128310089 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4649C>T; p.T1550M; 5:128318217-128318217 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3839C>T; p.S1280L; 5:128335463-128335463 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3839C>T; p.S1280L; 5:128335463-128335463 |
skin | malignant_melanoma | Substitution - Missense |
c.827-1G>C; p.?; 5:128446607-128446607 |
lung | carcinoma; adenocarcinoma | Unknown |
c.8494delA; p.I2832fs*65; 5:128259700-128259700 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2940C>G; p.C980W; 5:128349396-128349396 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3087C>T; p.V1029V; 5:128345487-128345487 |
skin | malignant_melanoma | Substitution - coding silent |
c.3202C>T; p.R1068W; 5:128345372-128345372 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3294C>G; p.C1098W; 5:128344434-128344434 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.8100G>A; p.S2700S; 5:128263517-128263517 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.933A>T; p.E311D; 5:128446500-128446500 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5377A>G; p.N1793D; 5:128307180-128307180 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.744C>T; p.G248G; 5:128464806-128464806 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3641G>T; p.G1214V; 5:128336071-128336071 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.680G>A; p.G227E; 5:128464870-128464870 |
skin | malignant_melanoma | Substitution - Missense |
c.2900C>T; p.P967L; 5:128349436-128349436 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3981T>A; p.N1327K; 5:128334837-128334837 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.7477G>C; p.D2493H; 5:128276155-128276155 |
breast | carcinoma | Substitution - Missense |
c.1951C>G; p.P651A; 5:128376752-128376752 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.5229C>A; p.S1743R; 5:128309371-128309371 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1951C>G; p.P651A; 5:128376752-128376752 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.6280C>T; p.R2094W; 5:128291541-128291541 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5383C>T; p.P1795S; 5:128307174-128307174 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.3701C>T; p.T1234M; 5:128336011-128336011 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3430G>A; p.E1144K; 5:128338975-128338975 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.7253G>T; p.W2418L; 5:128278727-128278727 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1190G>C; p.G397A; 5:128395163-128395163 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.7112C>T; p.S2371L; 5:128280218-128280218 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.4252C>T; p.Q1418*; 5:128330666-128330666 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3430G>A; p.E1144K; 5:128338975-128338975 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.7112C>T; p.S2371L; 5:128280218-128280218 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.3430G>A; p.E1144K; 5:128338975-128338975 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3641G>A; p.G1214E; 5:128336071-128336071 |
skin | malignant_melanoma | Substitution - Missense |
c.5523C>A; p.Y1841*; 5:128305848-128305848 |
autonomic_ganglia | neuroblastoma | Substitution - Nonsense |
c.584G>A; p.R195H; 5:128519317-128519317 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.584G>A; p.R195H; 5:128519317-128519317 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3834G>A; p.G1278G; 5:128335468-128335468 |
skin | malignant_melanoma | Substitution - coding silent |
c.8181A>T; p.R2727S; 5:128263436-128263436 |
liver | carcinoma | Substitution - Missense |
c.6578C>A; p.S2193Y; 5:128289186-128289186 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3093G>A; p.A1031A; 5:128345481-128345481 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.8181A>T; p.R2727S; 5:128263436-128263436 |
liver | carcinoma | Substitution - Missense |
c.6406T>A; p.W2136R; 5:128290771-128290771 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3156C>T; p.C1052C; 5:128345418-128345418 |
breast | carcinoma | Substitution - coding silent |
c.748C>A; p.P250T; 5:128464802-128464802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3225T>C; p.N1075N; 5:128344503-128344503 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2955C>T; p.G985G; 5:128349381-128349381 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.338C>T; p.P113L; 5:128530693-128530693 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.338C>T; p.P113L; 5:128530693-128530693 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2175G>T; p.K725N; 5:128369255-128369255 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1773C>T; p.C591C; 5:128377828-128377828 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1452C>A; p.I484I; 5:128393148-128393148 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.6534C>T; p.S2178S; 5:128289230-128289230 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.347G>T; p.R116I; 5:128530684-128530684 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2260G>A; p.G754S; 5:128366419-128366419 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.1452C>A; p.I484I; 5:128393148-128393148 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.905G>A; p.R302K; 5:128446528-128446528 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2996G>A; p.R999H; 5:128345578-128345578 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.7305G>T; p.K2435N; 5:128278675-128278675 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2996G>A; p.R999H; 5:128345578-128345578 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.6603C>T; p.G2201G; 5:128289161-128289161 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.7138G>A; p.D2380N; 5:128280192-128280192 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2584G>T; p.V862F; 5:128357366-128357366 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.7977C>T; p.S2659S; 5:128263640-128263640 |
skin | malignant_melanoma | Substitution - coding silent |
c.1609G>A; p.D537N; 5:128378885-128378885 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4290C>A; p.G1430G; 5:128330628-128330628 |
kidney | other; neoplasm | Substitution - coding silent |
c.5081A>G; p.D1694G; 5:128310102-128310102 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1445G>A; p.G482E; 5:128393155-128393155 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.8475C>A; p.I2825I; 5:128259719-128259719 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2700C>T; p.L900L; 5:128350980-128350980 |
liver | carcinoma | Substitution - coding silent |
c.7029G>T; p.R2343S; 5:128280301-128280301 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1899C>A; p.I633I; 5:128376804-128376804 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6548C>A; p.S2183*; 5:128289216-128289216 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2700C>T; p.L900L; 5:128350980-128350980 |
liver | carcinoma | Substitution - coding silent |
c.8602T>C; p.Y2868H; 5:128259592-128259592 |
liver | carcinoma | Substitution - Missense |
c.3653A>G; p.N1218S; 5:128336059-128336059 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.8667C>G; p.S2889R; 5:128259527-128259527 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4756C>T; p.R1586*; 5:128312757-128312757 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1137C>T; p.L379L; 5:128395216-128395216 |
skin | malignant_melanoma | Substitution - coding silent |
c.1137C>T; p.L379L; 5:128395216-128395216 |
skin | malignant_melanoma | Substitution - coding silent |
c.2255T>C; p.F752S; 5:128366424-128366424 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.5411G>A; p.G1804E; 5:128307146-128307146 |
skin | malignant_melanoma | Substitution - Missense |
c.5843G>C; p.C1948S; 5:128303047-128303047 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.5721G>T; p.L1907F; 5:128305036-128305036 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.4181G>A; p.S1394N; 5:128332953-128332953 |
skin | malignant_melanoma | Substitution - Missense |
c.219C>T; p.R73R; 5:128537385-128537385 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6006C>T; p.N2002N; 5:128301422-128301422 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4919G>T; p.R1640I; 5:128311914-128311914 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3973+3G>C; p.?; 5:128335167-128335167 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.984A>G; p.I328M; 5:128408768-128408768 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.5945G>C; p.G1982A; 5:128301483-128301483 |
liver | carcinoma | Substitution - Missense |
c.4422C>T; p.C1474C; 5:128328745-128328745 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.809G>T; p.R270L; 5:128464741-128464741 |
lung; left_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.5945G>C; p.G1982A; 5:128301483-128301483 |
liver | carcinoma | Substitution - Missense |
c.7286G>T; p.G2429V; 5:128278694-128278694 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.6889G>A; p.E2297K; 5:128286841-128286841 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1592G>A; p.G531E; 5:128392029-128392029 |
skin | malignant_melanoma | Substitution - Missense |
c.731G>T; p.G244V; 5:128464819-128464819 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.6251C>A; p.P2084H; 5:128291570-128291570 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2986T>A; p.L996M; 5:128349350-128349350 |
liver | carcinoma | Substitution - Missense |
c.2161G>A; p.G721S; 5:128369269-128369269 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.2161G>A; p.G721S; 5:128369269-128369269 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.865G>T; p.G289*; 5:128446568-128446568 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1410C>T; p.G470G; 5:128393190-128393190 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2161G>A; p.G721S; 5:128369269-128369269 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.7488C>T; p.S2496S; 5:128276144-128276144 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2161G>A; p.G721S; 5:128369269-128369269 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.966C>A; p.C322*; 5:128408786-128408786 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4231G>C; p.E1411Q; 5:128330687-128330687 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1733A>T; p.E578V; 5:128377868-128377868 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.574G>A; p.G192R; 5:128519327-128519327 |
skin; head_neck | malignant_melanoma; superficial_spreading | Substitution - Missense |
c.6026C>T; p.P2009L; 5:128301402-128301402 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3509G>T; p.R1170M; 5:128338086-128338086 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.6583C>T; p.R2195C; 5:128289181-128289181 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6583C>T; p.R2195C; 5:128289181-128289181 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3509G>T; p.R1170M; 5:128338086-128338086 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.6026C>T; p.P2009L; 5:128301402-128301402 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.4278A>G; p.V1426V; 5:128330640-128330640 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6660C>T; p.G2220G; 5:128288535-128288535 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4716T>C; p.V1572V; 5:128318150-128318150 |
liver | carcinoma | Substitution - coding silent |
c.8537G>A; p.R2846H; 5:128259657-128259657 |
pancreas | carcinoma | Substitution - Missense |
c.4617T>G; p.P1539P; 5:128318249-128318249 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.8537G>A; p.R2846H; 5:128259657-128259657 |
pancreas | carcinoma | Substitution - Missense |
c.4716T>C; p.V1572V; 5:128318150-128318150 |
liver | carcinoma | Substitution - coding silent |
c.8537G>A; p.R2846H; 5:128259657-128259657 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.8153T>G; p.L2718R; 5:128263464-128263464 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2646A>C; p.K882N; 5:128357304-128357304 |
liver | carcinoma | Substitution - Missense |
c.3019T>C; p.W1007R; 5:128345555-128345555 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4940T>A; p.I1647N; 5:128311893-128311893 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3019T>C; p.W1007R; 5:128345555-128345555 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.469G>T; p.G157W; 5:128527935-128527935 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1875C>T; p.N625N; 5:128376828-128376828 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3019T>C; p.W1007R; 5:128345555-128345555 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2081G>T; p.G694V; 5:128374642-128374642 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.7496C>A; p.P2499Q; 5:128276136-128276136 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.6629G>T; p.R2210L; 5:128289135-128289135 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.6964A>C; p.I2322L; 5:128286766-128286766 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.3750C>T; p.N1250N; 5:128335552-128335552 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.3929G>T; p.C1310F; 5:128335214-128335214 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1572T>C; p.G524G; 5:128392049-128392049 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.7293C>A; p.A2431A; 5:128278687-128278687 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.7121C>T; p.S2374L; 5:128280209-128280209 |
oesophagus | carcinoma | Substitution - Missense |
c.1743G>C; p.Q581H; 5:128377858-128377858 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2748G>A; p.L916L; 5:128350932-128350932 |
skin | malignant_melanoma | Substitution - coding silent |
c.5111G>T; p.G1704V; 5:128310072-128310072 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.8406C>T; p.P2802P; 5:128259788-128259788 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.8322C>A; p.D2774E; 5:128261778-128261778 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6870G>C; p.K2290N; 5:128287318-128287318 |
skin | malignant_melanoma | Substitution - Missense |
c.2480G>T; p.R827L; 5:128361797-128361797 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1996G>T; p.G666*; 5:128374727-128374727 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.769C>T; p.Q257*; 5:128464781-128464781 |
liver | carcinoma | Substitution - Nonsense |
c.6881-1G>C; p.?; 5:128286850-128286850 |
urinary_tract; bladder | carcinoma | Unknown |
c.769C>T; p.Q257*; 5:128464781-128464781 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.1148T>A; p.M383K; 5:128395205-128395205 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.533C>A; p.P178H; 5:128519368-128519368 |
breast | carcinoma | Substitution - Missense |
c.361G>T; p.D121Y; 5:128530670-128530670 |
pancreas | NS | Substitution - Missense |
c.4757G>A; p.R1586Q; 5:128312756-128312756 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.8139G>A; p.T2713T; 5:128263478-128263478 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.8139G>A; p.T2713T; 5:128263478-128263478 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3430G>T; p.E1144*; 5:128338975-128338975 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.3655A>G; p.M1219V; 5:128336057-128336057 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.3655A>G; p.M1219V; 5:128336057-128336057 |
liver | carcinoma | Substitution - Missense |
c.8499T>C; p.R2833R; 5:128259695-128259695 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.8499T>C; p.R2833R; 5:128259695-128259695 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.8499T>C; p.R2833R; 5:128259695-128259695 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6325G>A; p.E2109K; 5:128290852-128290852 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.180G>A; p.A60A; 5:128537424-128537424 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4001A>C; p.N1334T; 5:128334817-128334817 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.180G>A; p.A60A; 5:128537424-128537424 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2706_2707CC>AA; p.Q903K; 5:128350973-128350974 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3150G>T; p.T1050T; 5:128345424-128345424 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.8305G>A; p.G2769S; 5:128261795-128261795 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5430T>A; p.D1810E; 5:128305941-128305941 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1142G>A; p.G381E; 5:128395211-128395211 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.7595-1G>C; p.?; 5:128274684-128274684 |
breast | carcinoma | Unknown |
c.2330A>G; p.D777G; 5:128364698-128364698 |
skin | malignant_melanoma | Substitution - Missense |
c.3058T>G; p.F1020V; 5:128345516-128345516 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.132G>A; p.P44P; 5:128537472-128537472 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.3779C>T; p.S1260L; 5:128335523-128335523 |
skin | malignant_melanoma | Substitution - Missense |
c.132G>A; p.P44P; 5:128537472-128537472 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4696C>A; p.P1566T; 5:128318170-128318170 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.6278G>A; p.G2093E; 5:128291543-128291543 |
skin | malignant_melanoma | Substitution - Missense |
c.3368C>A; p.P1123H; 5:128339037-128339037 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.395G>A; p.C132Y; 5:128530636-128530636 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.3607G>A; p.E1203K; 5:128336105-128336105 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.395G>A; p.C132Y; 5:128530636-128530636 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2676C>T; p.D892D; 5:128351004-128351004 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5329G>A; p.E1777K; 5:128309271-128309271 |
breast | carcinoma | Substitution - Missense |
c.5495G>A; p.R1832H; 5:128305876-128305876 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2685G>T; p.K895N; 5:128350995-128350995 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4165G>T; p.G1389*; 5:128332969-128332969 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.8595C>A; p.P2865P; 5:128259599-128259599 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.578C>A; p.P193H; 5:128519323-128519323 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1240C>T; p.R414C; 5:128393360-128393360 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.7553C>T; p.P2518L; 5:128276079-128276079 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5311G>A; p.A1771T; 5:128309289-128309289 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.8224G>A; p.G2742R; 5:128261876-128261876 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2508G>A; p.T836T; 5:128361769-128361769 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3980A>G; p.N1327S; 5:128334838-128334838 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.733C>T; p.R245W; 5:128464817-128464817 |
pancreas | carcinoma | Substitution - Missense |
c.733C>T; p.R245W; 5:128464817-128464817 |
pancreas | carcinoma | Substitution - Missense |
c.7134C>T; p.C2378C; 5:128280196-128280196 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6601G>T; p.G2201C; 5:128289163-128289163 |
skin | malignant_melanoma | Substitution - Missense |
c.3103A>G; p.T1035A; 5:128345471-128345471 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2830G>A; p.G944R; 5:128349988-128349988 |
skin | malignant_melanoma | Substitution - Missense |
c.5621A>G; p.Y1874C; 5:128305564-128305564 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3682A>C; p.N1228H; 5:128336030-128336030 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3351C>T; p.D1117D; 5:128339054-128339054 |
thyroid | carcinoma | Substitution - coding silent |
c.2753C>A; p.S918Y; 5:128350927-128350927 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2935C>T; p.H979Y; 5:128349401-128349401 |
skin | malignant_melanoma | Substitution - Missense |
c.5459C>T; p.A1820V; 5:128305912-128305912 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4808G>A; p.R1603H; 5:128312705-128312705 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1154A>C; p.K385T; 5:128395199-128395199 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1161G>T; p.Q387H; 5:128395192-128395192 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3360G>A; p.R1120R; 5:128339045-128339045 |
skin | malignant_melanoma | Substitution - coding silent |
c.205G>A; p.A69T; 5:128537399-128537399 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3429C>T; p.F1143F; 5:128338976-128338976 |
skin | malignant_melanoma | Substitution - coding silent |
c.8557C>T; p.L2853F; 5:128259637-128259637 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3429C>T; p.F1143F; 5:128338976-128338976 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1779C>G; p.N593K; 5:128377822-128377822 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3518C>G; p.T1173S; 5:128338077-128338077 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1954A>T; p.N652Y; 5:128376749-128376749 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.5214C>A; p.S1738R; 5:128309386-128309386 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.8530G>A; p.V2844I; 5:128259664-128259664 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.3138G>T; p.K1046N; 5:128345436-128345436 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.4745A>C; p.K1582T; 5:128312768-128312768 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.6230G>T; p.G2077V; 5:128291591-128291591 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.6986G>A; p.R2329Q; 5:128286744-128286744 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.8261A>G; p.E2754G; 5:128261839-128261839 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4817G>A; p.C1606Y; 5:128312696-128312696 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.466G>A; p.G156S; 5:128527938-128527938 |
skin | malignant_melanoma | Substitution - Missense |
c.466G>A; p.G156S; 5:128527938-128527938 |
skin | malignant_melanoma | Substitution - Missense |
c.2093_2094insGT; p.D699fs*26; 5:128374629-128374630 |
endometrium | carcinoma; endometrioid_carcinoma | Insertion - Frameshift |
c.4817G>A; p.C1606Y; 5:128312696-128312696 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2489C>A; p.P830Q; 5:128361788-128361788 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.695T>A; p.I232N; 5:128464855-128464855 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.555G>A; p.Q185Q; 5:128519346-128519346 |
skin | malignant_melanoma | Substitution - coding silent |
c.472A>G; p.T158A; 5:128527932-128527932 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.8147delG; p.G2716fs*79; 5:128263470-128263470 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.7074T>C; p.I2358I; 5:128280256-128280256 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.8549G>A; p.R2850K; 5:128259645-128259645 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1598G>T; p.C533F; 5:128392023-128392023 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1004C>T; p.S335F; 5:128408748-128408748 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.7877A>G; p.H2626R; 5:128272082-128272082 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2671A>G; p.I891V; 5:128357279-128357279 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3330A>T; p.E1110D; 5:128344398-128344398 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1774G>A; p.V592M; 5:128377827-128377827 |
pancreas | carcinoma | Substitution - Missense |
c.4140G>A; p.M1380I; 5:128332994-128332994 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.7269G>T; p.E2423D; 5:128278711-128278711 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.2883G>A; p.V961V; 5:128349453-128349453 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.8516G>A; p.G2839E; 5:128259678-128259678 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.8469C>T; p.P2823P; 5:128259725-128259725 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3785G>A; p.G1262E; 5:128335517-128335517 |
skin | malignant_melanoma | Substitution - Missense |
c.4492C>T; p.Q1498*; 5:128318981-128318981 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1149G>A; p.M383I; 5:128395204-128395204 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1899C>T; p.I633I; 5:128376804-128376804 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.7196C>A; p.S2399Y; 5:128278784-128278784 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.7019A>G; p.N2340S; 5:128280311-128280311 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.6007G>A; p.E2003K; 5:128301421-128301421 |
oesophagus | carcinoma | Substitution - Missense |
c.2227C>G; p.P743A; 5:128369203-128369203 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.749C>T; p.P250L; 5:128464801-128464801 |
skin | malignant_melanoma | Substitution - Missense |
c.3352G>T; p.E1118*; 5:128339053-128339053 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.3352G>T; p.E1118*; 5:128339053-128339053 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.7970A>T; p.E2657V; 5:128263647-128263647 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1958G>A; p.G653E; 5:128376745-128376745 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.8097C>T; p.C2699C; 5:128263520-128263520 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.7417C>T; p.R2473*; 5:128277934-128277934 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.5533C>G; p.L1845V; 5:128305838-128305838 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.3792C>G; p.Y1264*; 5:128335510-128335510 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1204C>A; p.P402T; 5:128395149-128395149 |
liver | carcinoma | Substitution - Missense |
c.2411C>G; p.S804C; 5:128364617-128364617 |
central_nervous_system; third_ventricle | glioma; ependymoma | Substitution - Missense |
c.6254delC; p.P2085fs*164; 5:128291567-128291567 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2076G>A; p.M692I; 5:128374647-128374647 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4746G>T; p.K1582N; 5:128312767-128312767 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2076G>A; p.M692I; 5:128374647-128374647 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.645G>A; p.P215P; 5:128464905-128464905 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.865G>A; p.G289R; 5:128446568-128446568 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4184G>T; p.C1395F; 5:128332950-128332950 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4192_4193GG>AA; p.G1398N; 5:128332941-128332942 |
skin | malignant_melanoma | Substitution - Missense |
c.3062G>T; p.R1021L; 5:128345512-128345512 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.7212C>T; p.L2404L; 5:128278768-128278768 |
kidney | other; neoplasm | Substitution - coding silent |
c.1790G>A; p.S597N; 5:128377811-128377811 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2711A>T; p.D904V; 5:128350969-128350969 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.5965C>T; p.R1989C; 5:128301463-128301463 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1871C>G; p.T624S; 5:128376832-128376832 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.6908A>G; p.H2303R; 5:128286822-128286822 |
liver | carcinoma | Substitution - Missense |
c.238C>G; p.Q80E; 5:128537366-128537366 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2518G>A; p.G840R; 5:128361759-128361759 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.6908A>G; p.H2303R; 5:128286822-128286822 |
liver | carcinoma | Substitution - Missense |
c.737C>T; p.A246V; 5:128464813-128464813 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.8390T>C; p.V2797A; 5:128259804-128259804 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2459T>C; p.L820P; 5:128361818-128361818 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.347G>A; p.R116K; 5:128530684-128530684 |
skin; neck | malignant_melanoma | Substitution - Missense |
c.2261G>T; p.G754V; 5:128366418-128366418 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3680G>T; p.C1227F; 5:128336032-128336032 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.8114C>A; p.P2705H; 5:128263503-128263503 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2095+7G>A; p.?; 5:128374621-128374621 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Unknown |
c.1377C>T; p.I459I; 5:128393223-128393223 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3490C>T; p.R1164C; 5:128338105-128338105 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3080G>C; p.C1027S; 5:128345494-128345494 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.4288G>A; p.G1430S; 5:128330630-128330630 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.3490C>T; p.R1164C; 5:128338105-128338105 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3080G>C; p.C1027S; 5:128345494-128345494 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2346G>C; p.G782G; 5:128364682-128364682 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3341C>T; p.T1114M; 5:128344387-128344387 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3341C>T; p.T1114M; 5:128344387-128344387 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.4775C>T; p.S1592F; 5:128312738-128312738 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.5063G>A; p.R1688H; 5:128311311-128311311 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4231G>A; p.E1411K; 5:128330687-128330687 |
skin | malignant_melanoma | Substitution - Missense |
c.4231G>A; p.E1411K; 5:128330687-128330687 |
skin | malignant_melanoma | Substitution - Missense |
c.4231G>A; p.E1411K; 5:128330687-128330687 |
breast | carcinoma | Substitution - Missense |
c.6114C>A; p.S2038S; 5:128300869-128300869 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1070G>A; p.R357Q; 5:128408682-128408682 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5918-8G>T; p.?; 5:128301518-128301518 |
pancreas | carcinoma | Unknown |
c.6617A>G; p.Y2206C; 5:128289147-128289147 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.4729G>T; p.G1577C; 5:128312784-128312784 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2007G>A; p.M669I; 5:128374716-128374716 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2219C>T; p.P740L; 5:128369211-128369211 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1786G>A; p.G596R; 5:128377815-128377815 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5944_5945insT; p.G1982fs*11; 5:128301483-128301484 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.7255G>A; p.G2419S; 5:128278725-128278725 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4307G>T; p.C1436F; 5:128330611-128330611 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2977C>G; p.R993G; 5:128349359-128349359 |
breast | carcinoma | Substitution - Missense |
c.462G>A; p.M154I; 5:128527942-128527942 |
skin | malignant_melanoma | Substitution - Missense |
c.6063C>T; p.V2021V; 5:128300920-128300920 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.6754G>A; p.E2252K; 5:128288441-128288441 |
pancreas | carcinoma | Substitution - Missense |
c.7004G>A; p.G2335D; 5:128286726-128286726 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.7267G>C; p.E2423Q; 5:128278713-128278713 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2855C>T; p.T952M; 5:128349963-128349963 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.608C>A; p.T203N; 5:128519293-128519293 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.3476T>A; p.I1159N; 5:128338119-128338119 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.7324G>T; p.G2442*; 5:128278656-128278656 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.5745C>T; p.Y1915Y; 5:128305012-128305012 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.7542G>C; p.Q2514H; 5:128276090-128276090 |
skin | malignant_melanoma | Substitution - Missense |
c.4675C>A; p.P1559T; 5:128318191-128318191 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1732G>A; p.E578K; 5:128377869-128377869 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3532G>A; p.E1178K; 5:128338063-128338063 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6747G>T; p.M2249I; 5:128288448-128288448 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3724G>C; p.D1242H; 5:128335988-128335988 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5635G>A; p.A1879T; 5:128305550-128305550 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1084A>T; p.R362*; 5:128395269-128395269 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.8596G>A; p.G2866S; 5:128259598-128259598 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.8058C>T; p.F2686F; 5:128263559-128263559 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5220C>A; p.C1740*; 5:128309380-128309380 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.7369C>A; p.P2457T; 5:128277982-128277982 |
liver | carcinoma | Substitution - Missense |
c.5201-6A>G; p.?; 5:128309405-128309405 |
liver | carcinoma | Unknown |
c.738G>A; p.A246A; 5:128464812-128464812 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.909C>T; p.C303C; 5:128446524-128446524 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5201-6A>G; p.?; 5:128309405-128309405 |
liver | carcinoma | Unknown |
c.738G>A; p.A246A; 5:128464812-128464812 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.5823T>C; p.H1941H; 5:128303067-128303067 |
thyroid | other; neoplasm | Substitution - coding silent |
c.5823T>C; p.H1941H; 5:128303067-128303067 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.851C>A; p.P284Q; 5:128446582-128446582 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.8329C>A; p.Q2777K; 5:128261771-128261771 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1525C>T; p.R509C; 5:128392096-128392096 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4625G>T; p.C1542F; 5:128318241-128318241 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.6391A>G; p.M2131V; 5:128290786-128290786 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1525C>T; p.R509C; 5:128392096-128392096 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.5047C>T; p.L1683F; 5:128311327-128311327 |
prostate | carcinoma | Substitution - Missense |
c.8329C>A; p.Q2777K; 5:128261771-128261771 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3459G>A; p.M1153I; 5:128338946-128338946 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable | Substitution - Missense |
c.8436C>T; p.L2812L; 5:128259758-128259758 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.4690T>A; p.L1564M; 5:128318176-128318176 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.8436C>T; p.L2812L; 5:128259758-128259758 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.8734T>C; p.Y2912H; 5:128259460-128259460 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.6330T>C; p.N2110N; 5:128290847-128290847 |
liver | carcinoma | Substitution - coding silent |
c.2096-1G>C; p.?; 5:128369335-128369335 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Unknown |
c.2192C>T; p.A731V; 5:128369238-128369238 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.7739C>T; p.S2580L; 5:128273941-128273941 |
thyroid | other; neoplasm | Substitution - Missense |
c.7739C>T; p.S2580L; 5:128273941-128273941 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.886G>C; p.V296L; 5:128446547-128446547 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1042G>T; p.G348*; 5:128408710-128408710 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.4750G>A; p.G1584R; 5:128312763-128312763 |
skin | malignant_melanoma | Substitution - Missense |
c.4471+1G>A; p.?; 5:128328695-128328695 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Unknown |
c.7659_7660insG; p.F2554fs*4; 5:128274618-128274619 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.5667C>A; p.A1889A; 5:128305518-128305518 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1858G>A; p.E620K; 5:128376845-128376845 |
breast | carcinoma | Substitution - Missense |
c.6709T>A; p.C2237S; 5:128288486-128288486 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.191G>T; p.R64L; 5:128537413-128537413 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.7659_7660insG; p.F2554fs*4; 5:128274618-128274619 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.7659_7660insG; p.F2554fs*4; 5:128274618-128274619 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.6344T>C; p.V2115A; 5:128290833-128290833 |
liver | carcinoma | Substitution - Missense |
c.7013-5T>C; p.?; 5:128280322-128280322 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.3439G>A; p.E1147K; 5:128338966-128338966 |
skin | malignant_melanoma | Substitution - Missense |
c.8274C>T; p.S2758S; 5:128261826-128261826 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.1972+1G>T; p.?; 5:128376730-128376730 |
ovary | other; neoplasm | Unknown |
c.2317G>C; p.A773P; 5:128364711-128364711 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.7250G>T; p.G2417V; 5:128278730-128278730 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3200G>T; p.G1067V; 5:128345374-128345374 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1972+1G>T; p.?; 5:128376730-128376730 |
ovary | other; neoplasm | Unknown |
c.1972+1G>T; p.?; 5:128376730-128376730 |
ovary | other; neoplasm | Unknown |
c.1972+1G>T; p.?; 5:128376730-128376730 |
ovary | other; neoplasm | Unknown |
c.2990-3T>C; p.?; 5:128345587-128345587 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.1395T>C; p.N465N; 5:128393205-128393205 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.7422C>T; p.C2474C; 5:128277929-128277929 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.4786G>T; p.E1596*; 5:128312727-128312727 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.4211T>G; p.I1404S; 5:128332923-128332923 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5949_5950GG>AA; p.V1984M; 5:128301478-128301479 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4059G>T; p.Q1353H; 5:128334759-128334759 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.5205G>A; p.M1735I; 5:128309395-128309395 |
skin | malignant_melanoma | Substitution - Missense |
c.2965G>T; p.D989Y; 5:128349371-128349371 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1969A>G; p.T657A; 5:128376734-128376734 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.7659delG; p.F2554fs*57; 5:128274619-128274619 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.7659delG; p.F2554fs*57; 5:128274619-128274619 |
liver | carcinoma | Deletion - Frameshift |
c.6039C>T; p.N2013N; 5:128301389-128301389 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.7118C>A; p.S2373Y; 5:128280212-128280212 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.7659delG; p.F2554fs*57; 5:128274619-128274619 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.7118C>A; p.S2373Y; 5:128280212-128280212 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2771T>A; p.L924H; 5:128350909-128350909 |
breast | carcinoma | Substitution - Missense |
c.5890G>C; p.E1964Q; 5:128303000-128303000 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3149C>T; p.T1050M; 5:128345425-128345425 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3149C>T; p.T1050M; 5:128345425-128345425 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.111G>A; p.P37P; 5:128537493-128537493 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5884G>A; p.G1962R; 5:128303006-128303006 |
skin | malignant_melanoma | Substitution - Missense |
c.2233C>T; p.P745S; 5:128369197-128369197 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3544C>T; p.Q1182*; 5:128338051-128338051 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.6355T>G; p.F2119V; 5:128290822-128290822 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2686G>A; p.G896R; 5:128350994-128350994 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.111G>A; p.P37P; 5:128537493-128537493 |
thyroid | other; neoplasm | Substitution - coding silent |
c.4274G>A; p.C1425Y; 5:128330644-128330644 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.111G>A; p.P37P; 5:128537493-128537493 |
thyroid | other; neoplasm | Substitution - coding silent |
c.5884G>A; p.G1962R; 5:128303006-128303006 |
skin | malignant_melanoma | Substitution - Missense |
c.111G>A; p.P37P; 5:128537493-128537493 |
thyroid | other; neoplasm | Substitution - coding silent |
c.7004G>T; p.G2335V; 5:128286726-128286726 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.7558G>A; p.G2520R; 5:128276074-128276074 |
skin | malignant_melanoma | Substitution - Missense |
c.3324G>T; p.M1108I; 5:128344404-128344404 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2345_2346GG>AA; p.G782E; 5:128364682-128364683 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.8253C>T; p.V2751V; 5:128261847-128261847 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.6255_6256insT; p.G2086fs*6; 5:128291565-128291566 |
liver | carcinoma | Insertion - Frameshift |
c.1898T>C; p.I633T; 5:128376805-128376805 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3894G>C; p.Q1298H; 5:128335249-128335249 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.4879+1G>T; p.?; 5:128312633-128312633 |
lung | carcinoma; adenocarcinoma | Unknown |
c.3639T>C; p.N1213N; 5:128336073-128336073 |
liver | carcinoma | Substitution - coding silent |
c.8254G>A; p.D2752N; 5:128261846-128261846 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.192C>T; p.R64R; 5:128537412-128537412 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4287G>A; p.P1429P; 5:128330631-128330631 |
pancreas | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.192C>T; p.R64R; 5:128537412-128537412 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6930G>A; p.M2310I; 5:128286800-128286800 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.8254G>A; p.D2752N; 5:128261846-128261846 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.3717C>T; p.G1239G; 5:128335995-128335995 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4287G>A; p.P1429P; 5:128330631-128330631 |
pancreas | carcinoma | Substitution - coding silent |
c.6086C>T; p.P2029L; 5:128300897-128300897 |
skin; hand | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2620A>C; p.N874H; 5:128357330-128357330 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.2872G>T; p.E958*; 5:128349464-128349464 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2052T>C; p.C684C; 5:128374671-128374671 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4844G>A; p.G1615E; 5:128312669-128312669 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.7636C>A; p.L2546I; 5:128274642-128274642 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1769G>A; p.R590Q; 5:128377832-128377832 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5237G>A; p.G1746E; 5:128309363-128309363 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2179G>A; p.E727K; 5:128369251-128369251 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.7530G>A; p.E2510E; 5:128276102-128276102 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2249C>T; p.A750V; 5:128366430-128366430 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5849delA; p.N1950fs*25; 5:128303041-128303041 |
skin | malignant_melanoma | Deletion - Frameshift |
c.8686C>T; p.L2896L; 5:128259508-128259508 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3226G>A; p.E1076K; 5:128344502-128344502 |
breast | carcinoma | Substitution - Missense |
c.3563G>T; p.G1188V; 5:128338032-128338032 |
kidney | other; neoplasm | Substitution - Missense |
c.1627C>A; p.P543T; 5:128378867-128378867 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1769G>A; p.R590Q; 5:128377832-128377832 |
skin | malignant_melanoma | Substitution - Missense |
c.320G>A; p.G107E; 5:128536419-128536419 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.704C>T; p.T235M; 5:128464846-128464846 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.2633C>T; p.S878L; 5:128357317-128357317 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.704C>T; p.T235M; 5:128464846-128464846 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.320G>A; p.G107E; 5:128536419-128536419 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.5673A>G; p.V1891V; 5:128305512-128305512 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.526G>A; p.G176R; 5:128527878-128527878 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.6202C>A; p.L2068I; 5:128291619-128291619 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1753C>A; p.L585I; 5:128377848-128377848 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.6424C>T; p.L2142L; 5:128290753-128290753 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3150G>A; p.T1050T; 5:128345424-128345424 |
pancreas | carcinoma | Substitution - coding silent |
c.7192G>A; p.A2398T; 5:128278788-128278788 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.7192G>A; p.A2398T; 5:128278788-128278788 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4758A>G; p.R1586R; 5:128312755-128312755 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.7580G>T; p.G2527V; 5:128276052-128276052 |
breast | carcinoma | Substitution - Missense |
c.1438G>T; p.G480*; 5:128393162-128393162 |
lung | carcinoma; small_cell_carcinoma | Substitution - Nonsense |
c.4555G>A; p.D1519N; 5:128318918-128318918 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.2969G>T; p.G990V; 5:128349367-128349367 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5333C>T; p.P1778L; 5:128309267-128309267 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.8498G>A; p.R2833H; 5:128259696-128259696 |
large_intestine; colon | NS | Substitution - Missense |
c.7197C>G; p.S2399S; 5:128278783-128278783 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.8498G>A; p.R2833H; 5:128259696-128259696 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4878C>T; p.S1626S; 5:128312635-128312635 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.4551C>T; p.C1517C; 5:128318922-128318922 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.630T>A; p.D210E; 5:128464920-128464920 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.6858G>A; p.R2286R; 5:128287330-128287330 |
skin | malignant_melanoma | Substitution - coding silent |
c.7012+7G>A; p.?; 5:128286711-128286711 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Unknown |
c.7660T>G; p.F2554V; 5:128274618-128274618 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.8510C>T; p.S2837F; 5:128259684-128259684 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3762C>A; p.D1254E; 5:128335540-128335540 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2754T>C; p.S918S; 5:128350926-128350926 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.7320C>A; p.G2440G; 5:128278660-128278660 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1418G>A; p.G473E; 5:128393182-128393182 |
skin | malignant_melanoma | Substitution - Missense |
c.1526G>A; p.R509H; 5:128392095-128392095 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3045C>T; p.P1015P; 5:128345529-128345529 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - coding silent |
c.2075T>A; p.M692K; 5:128374648-128374648 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.4862G>A; p.C1621Y; 5:128312651-128312651 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1727T>A; p.I576N; 5:128377874-128377874 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1612G>A; p.E538K; 5:128378882-128378882 |
skin | malignant_melanoma | Substitution - Missense |
c.745C>G; p.H249D; 5:128464805-128464805 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.626G>C; p.R209T; 5:128519275-128519275 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6840G>C; p.P2280P; 5:128287348-128287348 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.515G>A; p.G172E; 5:128527889-128527889 |
skin | malignant_melanoma | Substitution - Missense |
c.2532G>A; p.R844R; 5:128361745-128361745 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3241C>T; p.P1081S; 5:128344487-128344487 |
skin | malignant_melanoma | Substitution - Missense |
c.4153C>A; p.L1385M; 5:128332981-128332981 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.849C>A; p.I283I; 5:128446584-128446584 |
prostate | carcinoma | Substitution - coding silent |
c.8045C>T; p.S2682L; 5:128263572-128263572 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Missense |
c.3001G>T; p.E1001*; 5:128345573-128345573 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4799G>C; p.G1600A; 5:128312714-128312714 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.5352A>T; p.T1784T; 5:128309248-128309248 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2797G>T; p.E933*; 5:128350883-128350883 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.806T>C; p.I269T; 5:128464744-128464744 |
bone; fibula | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.5671G>A; p.V1891I; 5:128305514-128305514 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5817G>A; p.E1939E; 5:128303073-128303073 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.359G>T; p.G120V; 5:128530672-128530672 |
liver | carcinoma | Substitution - Missense |
c.4349T>C; p.V1450A; 5:128328818-128328818 |
skin | malignant_melanoma | Substitution - Missense |
c.4035G>T; p.K1345N; 5:128334783-128334783 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1232-1G>T; p.?; 5:128393369-128393369 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.6990G>A; p.R2330R; 5:128286740-128286740 |
skin | malignant_melanoma | Substitution - coding silent |
c.893C>A; p.S298Y; 5:128446540-128446540 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3710G>T; p.R1237L; 5:128336002-128336002 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2036C>T; p.S679F; 5:128374687-128374687 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3710G>T; p.R1237L; 5:128336002-128336002 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.8124C>T; p.Y2708Y; 5:128263493-128263493 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1972+7G>A; p.?; 5:128376724-128376724 |
liver | carcinoma | Unknown |
c.39C>T; p.F13F; 5:128537565-128537565 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2480G>A; p.R827Q; 5:128361797-128361797 |
breast | carcinoma | Substitution - Missense |
c.1972+7G>A; p.?; 5:128376724-128376724 |
liver | carcinoma | Unknown |
c.7973G>A; p.C2658Y; 5:128263644-128263644 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.5963G>A; p.G1988E; 5:128301465-128301465 |
skin | malignant_melanoma | Substitution - Missense |
c.8644G>A; p.E2882K; 5:128259550-128259550 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.7021G>A; p.E2341K; 5:128280309-128280309 |
skin | malignant_melanoma | Substitution - Missense |
c.39C>T; p.F13F; 5:128537565-128537565 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1231+9C>T; p.?; 5:128395113-128395113 |
liver | carcinoma | Unknown |
c.1396G>A; p.G466S; 5:128393204-128393204 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.368T>G; p.F123C; 5:128530663-128530663 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4741C>A; p.L1581M; 5:128312772-128312772 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1231+9C>T; p.?; 5:128395113-128395113 |
liver | carcinoma | Unknown |
c.1748G>T; p.G583V; 5:128377853-128377853 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4538T>A; p.F1513Y; 5:128318935-128318935 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1748G>T; p.G583V; 5:128377853-128377853 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1396G>A; p.G466S; 5:128393204-128393204 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1748G>T; p.G583V; 5:128377853-128377853 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4793G>A; p.G1598E; 5:128312720-128312720 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2202C>T; p.D734D; 5:128369228-128369228 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2391T>A; p.S797R; 5:128364637-128364637 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2868T>G; p.V956V; 5:128349468-128349468 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.7282C>T; p.P2428S; 5:128278698-128278698 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2814T>C; p.D938D; 5:128350004-128350004 |
liver | carcinoma | Substitution - coding silent |
c.7466G>T; p.C2489F; 5:128277885-128277885 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4986G>A; p.Q1662Q; 5:128311388-128311388 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2814T>C; p.D938D; 5:128350004-128350004 |
liver | carcinoma | Substitution - coding silent |
c.2692T>A; p.C898S; 5:128350988-128350988 |
liver | carcinoma | Substitution - Missense |
c.2692T>A; p.C898S; 5:128350988-128350988 |
liver | carcinoma | Substitution - Missense |
c.5966G>A; p.R1989H; 5:128301462-128301462 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3793G>A; p.E1265K; 5:128335509-128335509 |
skin | malignant_melanoma | Substitution - Missense |
c.6907C>A; p.H2303N; 5:128286823-128286823 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.7560G>T; p.G2520G; 5:128276072-128276072 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.901T>G; p.C301G; 5:128446532-128446532 |
skin | malignant_melanoma | Substitution - Missense |
c.738G>C; p.A246A; 5:128464812-128464812 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.8067C>A; p.F2689L; 5:128263550-128263550 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.8140G>T; p.E2714*; 5:128263477-128263477 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.5348G>A; p.G1783E; 5:128309252-128309252 |
breast | carcinoma | Substitution - Missense |
c.1768C>T; p.R590*; 5:128377833-128377833 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.8275C>A; p.P2759T; 5:128261825-128261825 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.3363T>A; p.I1121I; 5:128339042-128339042 |
skin | malignant_melanoma | Substitution - coding silent |
c.4210A>G; p.I1404V; 5:128332924-128332924 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.8138C>T; p.T2713M; 5:128263479-128263479 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.107A>G; p.K36R; 5:128537497-128537497 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4594+1G>C; p.?; 5:128318878-128318878 |
thyroid | carcinoma | Unknown |
c.6281G>A; p.R2094Q; 5:128291540-128291540 |
skin; hand | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6075C>A; p.G2025G; 5:128300908-128300908 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.6177A>C; p.E2059D; 5:128291644-128291644 |
prostate | adenoma | Substitution - Missense |
c.7657G>A; p.G2553R; 5:128274621-128274621 |
skin | malignant_melanoma | Substitution - Missense |
c.2715C>A; p.S905R; 5:128350965-128350965 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.7674T>C; p.C2558C; 5:128274604-128274604 |
autonomic_ganglia | neuroblastoma | Substitution - coding silent |
c.607A>G; p.T203A; 5:128519294-128519294 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.5522A>G; p.Y1841C; 5:128305849-128305849 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1439G>T; p.G480V; 5:128393161-128393161 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4793G>T; p.G1598V; 5:128312720-128312720 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.5522A>G; p.Y1841C; 5:128305849-128305849 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.886G>T; p.V296L; 5:128446547-128446547 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.1030G>T; p.V344F; 5:128408722-128408722 |
liver | carcinoma | Substitution - Missense |
c.7748G>A; p.G2583E; 5:128273932-128273932 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4589G>T; p.C1530F; 5:128318884-128318884 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3584G>T; p.R1195L; 5:128338011-128338011 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.5228G>T; p.S1743I; 5:128309372-128309372 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3955G>A; p.D1319N; 5:128335188-128335188 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2486C>T; p.T829M; 5:128361791-128361791 |
oesophagus | carcinoma | Substitution - Missense |
c.7538A>T; p.Y2513F; 5:128276094-128276094 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2486C>T; p.T829M; 5:128361791-128361791 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3584G>T; p.R1195L; 5:128338011-128338011 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1642G>A; p.D548N; 5:128378852-128378852 |
skin | malignant_melanoma | Substitution - Missense |
c.2374C>A; p.R792S; 5:128364654-128364654 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.7959C>T; p.V2653V; 5:128272000-128272000 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.7959C>T; p.V2653V; 5:128272000-128272000 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6105G>A; p.L2035L; 5:128300878-128300878 |
skin | malignant_melanoma | Substitution - coding silent |
c.428C>T; p.S143L; 5:128530603-128530603 |
skin | malignant_melanoma | Substitution - Missense |
c.3749A>G; p.N1250S; 5:128335553-128335553 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1465A>C; p.T489P; 5:128393135-128393135 |
skin | malignant_melanoma | Substitution - Missense |
c.2995C>T; p.R999C; 5:128345579-128345579 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2995C>T; p.R999C; 5:128345579-128345579 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2995C>T; p.R999C; 5:128345579-128345579 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2995C>T; p.R999C; 5:128345579-128345579 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.606C>A; p.F202L; 5:128519295-128519295 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4771C>A; p.L1591M; 5:128312742-128312742 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2755G>A; p.E919K; 5:128350925-128350925 |
skin | malignant_melanoma | Substitution - Missense |
c.2150G>A; p.R717H; 5:128369280-128369280 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.4387G>T; p.G1463*; 5:128328780-128328780 |
autonomic_ganglia | neuroblastoma | Substitution - Nonsense |
c.2150G>A; p.R717H; 5:128369280-128369280 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.7221G>A; p.K2407K; 5:128278759-128278759 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.8497C>A; p.R2833S; 5:128259697-128259697 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6800G>A; p.R2267H; 5:128287388-128287388 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.7374C>T; p.N2458N; 5:128277977-128277977 |
skin | malignant_melanoma | Substitution - coding silent |
c.7355A>C; p.E2452A; 5:128277996-128277996 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.8520C>T; p.N2840N; 5:128259674-128259674 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.754G>C; p.E252Q; 5:128464796-128464796 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.5451C>T; p.G1817G; 5:128305920-128305920 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2063T>A; p.L688Q; 5:128374660-128374660 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.6554G>A; p.G2185D; 5:128289210-128289210 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.7710C>T; p.I2570I; 5:128274568-128274568 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5244T>C; p.T1748T; 5:128309356-128309356 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4540C>A; p.H1514N; 5:128318933-128318933 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4558G>A; p.G1520S; 5:128318915-128318915 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4244G>A; p.G1415E; 5:128330674-128330674 |
skin | malignant_melanoma | Substitution - Missense |
c.1620A>T; p.T540T; 5:128378874-128378874 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1592G>C; p.G531A; 5:128392029-128392029 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1851T>C; p.D617D; 5:128376852-128376852 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3162C>T; p.R1054R; 5:128345412-128345412 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3491G>A; p.R1164H; 5:128338104-128338104 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1640G>T; p.G547V; 5:128378854-128378854 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1997G>A; p.G666E; 5:128374726-128374726 |
skin | malignant_melanoma | Substitution - Missense |
c.5031C>T; p.C1677C; 5:128311343-128311343 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6924G>A; p.R2308R; 5:128286806-128286806 |
prostate | carcinoma | Substitution - coding silent |
c.5677C>T; p.R1893C; 5:128305080-128305080 |
skin | malignant_melanoma | Substitution - Missense |
c.4862G>T; p.C1621F; 5:128312651-128312651 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5677C>T; p.R1893C; 5:128305080-128305080 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1670A>G; p.Y557C; 5:128378824-128378824 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5677C>T; p.R1893C; 5:128305080-128305080 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.7855G>T; p.D2619Y; 5:128272104-128272104 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.7862A>C; p.N2621T; 5:128272097-128272097 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.8085C>T; p.D2695D; 5:128263532-128263532 |
large_intestine; colon | NS | Substitution - coding silent |
c.8216T>G; p.F2739C; 5:128261884-128261884 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3618G>C; p.L1206L; 5:128336094-128336094 |
liver | carcinoma | Substitution - coding silent |
c.3618G>C; p.L1206L; 5:128336094-128336094 |
liver | carcinoma | Substitution - coding silent |
c.8085C>T; p.D2695D; 5:128263532-128263532 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5478C>T; p.N1826N; 5:128305893-128305893 |
bone; vertebrae | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.6986G>T; p.R2329L; 5:128286744-128286744 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.6948C>A; p.I2316I; 5:128286782-128286782 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5586G>T; p.Q1862H; 5:128305599-128305599 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5478C>T; p.N1826N; 5:128305893-128305893 |
bone; vertebrae | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.2938T>A; p.C980S; 5:128349398-128349398 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1151C>T; p.T384M; 5:128395202-128395202 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.5950G>C; p.V1984L; 5:128301478-128301478 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2047G>A; p.D683N; 5:128374676-128374676 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.866G>A; p.G289E; 5:128446567-128446567 |
skin | malignant_melanoma | Substitution - Missense |
c.3193C>A; p.L1065I; 5:128345381-128345381 |
skin; upper_back | malignant_melanoma | Substitution - Missense |
c.5200G>T; p.D1734Y; 5:128309983-128309983 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.5200G>T; p.D1734Y; 5:128309983-128309983 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.7204C>A; p.R2402S; 5:128278776-128278776 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5200G>T; p.D1734Y; 5:128309983-128309983 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.5200G>T; p.D1734Y; 5:128309983-128309983 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.5200G>T; p.D1734Y; 5:128309983-128309983 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.8084A>G; p.D2695G; 5:128263533-128263533 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.7690C>T; p.Q2564*; 5:128274588-128274588 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3199G>C; p.G1067R; 5:128345375-128345375 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.532+1G>A; p.?; 5:128527871-128527871 |
breast | carcinoma | Unknown |
c.4407G>A; p.P1469P; 5:128328760-128328760 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4407G>A; p.P1469P; 5:128328760-128328760 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3199G>T; p.G1067W; 5:128345375-128345375 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.4407G>A; p.P1469P; 5:128328760-128328760 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5704G>A; p.V1902I; 5:128305053-128305053 |
skin | malignant_melanoma | Substitution - Missense |
c.2487G>T; p.T829T; 5:128361790-128361790 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3945G>A; p.M1315I; 5:128335198-128335198 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3508A>T; p.R1170W; 5:128338087-128338087 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1537A>T; p.T513S; 5:128392084-128392084 |
skin | malignant_melanoma | Substitution - Missense |
c.1537A>T; p.T513S; 5:128392084-128392084 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3945G>A; p.M1315I; 5:128335198-128335198 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.6723A>G; p.E2241E; 5:128288472-128288472 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.4577C>A; p.T1526K; 5:128318896-128318896 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1378C>T; p.P460S; 5:128393222-128393222 |
skin | malignant_melanoma | Substitution - Missense |
c.3724+1G>T; p.?; 5:128335987-128335987 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.2637C>A; p.P879P; 5:128357313-128357313 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.532C>T; p.P178S; 5:128527872-128527872 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4785C>T; p.T1595T; 5:128312728-128312728 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.4807C>T; p.R1603C; 5:128312706-128312706 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6412delG; p.D2138fs*111; 5:128290765-128290765 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1411G>A; p.V471I; 5:128393189-128393189 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.4785C>A; p.T1595T; 5:128312728-128312728 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1411G>A; p.V471I; 5:128393189-128393189 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1411G>A; p.V471I; 5:128393189-128393189 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1989G>A; p.Q663Q; 5:128374734-128374734 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1411G>A; p.V471I; 5:128393189-128393189 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1411G>A; p.V471I; 5:128393189-128393189 |
pancreas | carcinoma | Substitution - Missense |
c.2416A>C; p.R806R; 5:128364612-128364612 |
liver | carcinoma | Substitution - coding silent |
c.3136A>G; p.K1046E; 5:128345438-128345438 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.921C>A; p.H307Q; 5:128446512-128446512 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1411G>A; p.V471I; 5:128393189-128393189 |
large_intestine; colon | NS | Substitution - Missense |
c.1364G>A; p.G455E; 5:128393236-128393236 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4259G>T; p.S1420I; 5:128330659-128330659 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.8225G>C; p.G2742A; 5:128261875-128261875 |
pancreas | carcinoma | Substitution - Missense |
c.1364G>A; p.G455E; 5:128393236-128393236 |
skin | malignant_melanoma | Substitution - Missense |
c.1364G>A; p.G455E; 5:128393236-128393236 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4259G>T; p.S1420I; 5:128330659-128330659 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2194A>G; p.N732D; 5:128369236-128369236 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3020G>T; p.W1007L; 5:128345554-128345554 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1589A>T; p.N530I; 5:128392032-128392032 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1422C>T; p.A474A; 5:128393178-128393178 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3771C>A; p.C1257*; 5:128335531-128335531 |
liver | carcinoma | Substitution - Nonsense |
c.3771C>A; p.C1257*; 5:128335531-128335531 |
liver | carcinoma | Substitution - Nonsense |
c.5582G>T; p.C1861F; 5:128305603-128305603 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.728T>C; p.I243T; 5:128464822-128464822 |
prostate | adenoma | Substitution - Missense |
c.6573C>A; p.D2191E; 5:128289191-128289191 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.531A>C; p.Q177H; 5:128527873-128527873 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.1659T>C; p.P553P; 5:128378835-128378835 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.728T>C; p.I243T; 5:128464822-128464822 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.533-2A>C; p.?; 5:128519370-128519370 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.1481C>A; p.T494K; 5:128392140-128392140 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6573C>A; p.D2191E; 5:128289191-128289191 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.7547C>T; p.S2516L; 5:128276085-128276085 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.6282G>A; p.R2094R; 5:128291539-128291539 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.4493A>G; p.Q1498R; 5:128318980-128318980 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3480C>T; p.D1160D; 5:128338115-128338115 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2863+1G>A; p.?; 5:128349954-128349954 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Unknown |
c.8146G>T; p.G2716C; 5:128263471-128263471 |
liver | carcinoma | Substitution - Missense |
c.809G>A; p.R270H; 5:128464741-128464741 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.809G>A; p.R270H; 5:128464741-128464741 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.8146G>T; p.G2716C; 5:128263471-128263471 |
liver | carcinoma | Substitution - Missense |
c.3409A>G; p.S1137G; 5:128338996-128338996 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1394A>C; p.N465T; 5:128393206-128393206 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5950G>A; p.V1984M; 5:128301478-128301478 |
thyroid | carcinoma | Substitution - Missense |
c.2257C>T; p.H753Y; 5:128366422-128366422 |
skin | malignant_melanoma | Substitution - Missense |
c.3021G>T; p.W1007C; 5:128345553-128345553 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.3870T>C; p.N1290N; 5:128335273-128335273 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - coding silent |
c.6834G>A; p.T2278T; 5:128287354-128287354 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1936G>A; p.G646R; 5:128376767-128376767 |
pancreas | carcinoma | Substitution - Missense |
c.1143delG; p.R382fs*2; 5:128395210-128395210 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3867C>T; p.N1289N; 5:128335276-128335276 |
liver | carcinoma | Substitution - coding silent |
c.8452A>G; p.I2818V; 5:128259742-128259742 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.193G>A; p.E65K; 5:128537411-128537411 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2936A>G; p.H979R; 5:128349400-128349400 |
salivary_gland | carcinoma; adenoid_cystic_carcinoma | Substitution - Missense |
c.6610C>T; p.L2204F; 5:128289154-128289154 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.898G>C; p.E300Q; 5:128446535-128446535 |
lung; middle_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2723A>G; p.E908G; 5:128350957-128350957 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5459C>A; p.A1820E; 5:128305912-128305912 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.7418G>T; p.R2473L; 5:128277933-128277933 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5957G>T; p.R1986I; 5:128301471-128301471 |
breast | carcinoma | Substitution - Missense |
c.2246C>T; p.S749L; 5:128369184-128369184 |
skin; trunk | malignant_melanoma; nodular | Substitution - Missense |
c.8688A>T; p.L2896L; 5:128259506-128259506 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |