| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 80243 |
Name | PREX2 |
Synonymous | phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2;PREX2;phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 |
Definition | DEP domain-containing protein 2|PtdIns(3,4,5)-dependent Rac exchanger 2|phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 2 protein|protein phosphatase 1, regulatory subunit 129 |
Position | 8q13.2 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1462C>T; p.R488C; 8:68069853-68069853 |
breast | carcinoma | Substitution - Missense |
c.1382G>C; p.R461T; 8:68069075-68069075 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.854G>A; p.S285N; 8:68044501-68044501 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3125T>C; p.M1042T; 8:68109602-68109602 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.854G>A; p.S285N; 8:68044501-68044501 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1094G>T; p.G365V; 8:68055830-68055830 |
liver | carcinoma | Substitution - Missense |
c.2006T>C; p.L669P; 8:68083367-68083367 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4567G>C; p.A1523P; 8:68192488-68192488 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4567G>C; p.A1523P; 8:68192488-68192488 |
liver | carcinoma | Substitution - Missense |
c.4567G>C; p.A1523P; 8:68192488-68192488 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4567G>C; p.A1523P; 8:68192488-68192488 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4567G>C; p.A1523P; 8:68192488-68192488 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4567G>C; p.A1523P; 8:68192488-68192488 |
thyroid | other; neoplasm | Substitution - Missense |
c.1240G>A; p.E414K; 8:68060680-68060680 |
skin | malignant_melanoma | Substitution - Missense |
c.4567G>C; p.A1523P; 8:68192488-68192488 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4567G>C; p.A1523P; 8:68192488-68192488 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.939C>T; p.G313G; 8:68044586-68044586 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1240G>A; p.E414K; 8:68060680-68060680 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4567G>C; p.A1523P; 8:68192488-68192488 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1819T>C; p.L607L; 8:68080779-68080779 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4567G>C; p.A1523P; 8:68192488-68192488 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4567G>C; p.A1523P; 8:68192488-68192488 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2329G>A; p.G777R; 8:68093683-68093683 |
skin | malignant_melanoma | Substitution - Missense |
c.1240G>A; p.E414K; 8:68060680-68060680 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4567G>C; p.A1523P; 8:68192488-68192488 |
central_nervous_system; brainstem | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.4567G>C; p.A1523P; 8:68192488-68192488 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4567G>C; p.A1523P; 8:68192488-68192488 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1240G>A; p.E414K; 8:68060680-68060680 |
skin | malignant_melanoma | Substitution - Missense |
c.4567G>C; p.A1523P; 8:68192488-68192488 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4567G>C; p.A1523P; 8:68192488-68192488 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4567G>C; p.A1523P; 8:68192488-68192488 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4567G>C; p.A1523P; 8:68192488-68192488 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1994C>T; p.P665L; 8:68083355-68083355 |
skin; shoulder | malignant_melanoma; nodular | Substitution - Missense |
c.3750T>C; p.A1250A; 8:68127403-68127403 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3384G>C; p.Q1128H; 8:68118607-68118607 |
pancreas | carcinoma | Substitution - Missense |
c.2671G>A; p.E891K; 8:68099799-68099799 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1476T>A; p.L492L; 8:68069867-68069867 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.79G>C; p.V27L; 8:67952473-67952473 |
bone; tibia | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.2808C>T; p.T936T; 8:68108201-68108201 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2830G>A; p.E944K; 8:68108223-68108223 |
skin | malignant_melanoma | Substitution - Missense |
c.2048C>T; p.S683L; 8:68087744-68087744 |
skin | malignant_melanoma | Substitution - Missense |
c.1910T>A; p.F637Y; 8:68083271-68083271 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2777C>A; p.S926Y; 8:68108170-68108170 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.2777C>A; p.S926Y; 8:68108170-68108170 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.559A>G; p.T187A; 8:68030512-68030512 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.799C>T; p.L267F; 8:68038252-68038252 |
skin | malignant_melanoma | Substitution - Missense |
c.799C>T; p.L267F; 8:68038252-68038252 |
skin | malignant_melanoma | Substitution - Missense |
c.122C>T; p.T41M; 8:67952516-67952516 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3049G>A; p.E1017K; 8:68109526-68109526 |
skin | malignant_melanoma | Substitution - Missense |
c.2229G>A; p.R743R; 8:68090694-68090694 |
skin | malignant_melanoma | Substitution - coding silent |
c.3005C>T; p.S1002F; 8:68109482-68109482 |
skin; neck | malignant_melanoma | Substitution - Missense |
c.799C>T; p.L267F; 8:68038252-68038252 |
skin; upper_arm | malignant_melanoma | Substitution - Missense |
c.2560G>T; p.E854*; 8:68099688-68099688 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4115G>A; p.G1372E; 8:68146236-68146236 |
skin | malignant_melanoma | Substitution - Missense |
c.2415G>A; p.K805K; 8:68097063-68097063 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2687T>G; p.L896R; 8:68099815-68099815 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2691T>C; p.C897C; 8:68099819-68099819 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2369A>G; p.E790G; 8:68097017-68097017 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3596-1G>A; p.?; 8:68120920-68120920 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.4431C>A; p.N1477K; 8:68192352-68192352 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1865G>A; p.G622E; 8:68080825-68080825 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.107G>A; p.R36Q; 8:67952501-67952501 |
skin | malignant_melanoma | Substitution - Missense |
c.3135T>C; p.C1045C; 8:68109612-68109612 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1782A>G; p.L594L; 8:68080582-68080582 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2826G>A; p.V942V; 8:68108219-68108219 |
skin | malignant_melanoma | Substitution - coding silent |
c.3305T>C; p.I1102T; 8:68115911-68115911 |
breast | carcinoma | Substitution - Missense |
c.2461G>T; p.V821F; 8:68097109-68097109 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3305T>C; p.I1102T; 8:68115911-68115911 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1878+2T>C; p.?; 8:68080840-68080840 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.3445C>T; p.R1149C; 8:68119455-68119455 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2461G>T; p.V821F; 8:68097109-68097109 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.1412C>A; p.P471Q; 8:68069105-68069105 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1526C>T; p.S509F; 8:68072527-68072527 |
skin | malignant_melanoma | Substitution - Missense |
c.2086C>T; p.P696S; 8:68087782-68087782 |
skin | malignant_melanoma | Substitution - Missense |
c.4201delT; p.F1401fs*12; 8:68146322-68146322 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.2247G>T; p.T749T; 8:68090712-68090712 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3883G>A; p.E1295K; 8:68134175-68134175 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2027+10A>G; p.?; 8:68083398-68083398 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Unknown |
c.2989G>A; p.A997T; 8:68109466-68109466 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3883G>A; p.E1295K; 8:68134175-68134175 |
skin | malignant_melanoma | Substitution - Missense |
c.4730C>T; p.A1577V; 8:68224581-68224581 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3883G>A; p.E1295K; 8:68134175-68134175 |
skin | malignant_melanoma | Substitution - Missense |
c.3606G>A; p.Q1202Q; 8:68120931-68120931 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.4730C>T; p.A1577V; 8:68224581-68224581 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.884delT; p.R297fs*8; 8:68044531-68044531 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.335T>C; p.F112S; 8:68019670-68019670 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4734G>A; p.K1578K; 8:68224585-68224585 |
skin; upper_arm | malignant_melanoma | Substitution - coding silent |
c.3883G>A; p.E1295K; 8:68134175-68134175 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.3883G>A; p.E1295K; 8:68134175-68134175 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3155C>T; p.S1052F; 8:68115761-68115761 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.4354T>G; p.Y1452D; 8:68191729-68191729 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3120G>A; p.V1040V; 8:68109597-68109597 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3421G>A; p.G1141S; 8:68118644-68118644 |
skin | malignant_melanoma | Substitution - Missense |
c.235G>C; p.D79H; 8:68019570-68019570 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.352A>T; p.I118F; 8:68022051-68022051 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4661T>C; p.L1554P; 8:68217672-68217672 |
liver | carcinoma | Substitution - Missense |
c.804C>T; p.F268F; 8:68038257-68038257 |
skin | malignant_melanoma | Substitution - coding silent |
c.3307A>G; p.S1103G; 8:68115913-68115913 |
pancreas | carcinoma | Substitution - Missense |
c.3898A>C; p.T1300P; 8:68134190-68134190 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3266T>A; p.V1089E; 8:68115872-68115872 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2804C>A; p.P935H; 8:68108197-68108197 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4127C>T; p.A1376V; 8:68146248-68146248 |
skin; lower_leg | malignant_melanoma; nodular | Substitution - Missense |
c.804C>T; p.F268F; 8:68038257-68038257 |
skin; upper_arm | malignant_melanoma | Substitution - coding silent |
c.4661T>C; p.L1554P; 8:68217672-68217672 |
liver | carcinoma | Substitution - Missense |
c.1431C>T; p.D477D; 8:68069124-68069124 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.906G>A; p.T302T; 8:68044553-68044553 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.906G>A; p.T302T; 8:68044553-68044553 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3533G>T; p.G1178V; 8:68120224-68120224 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.4732A>G; p.K1578E; 8:68224583-68224583 |
breast | carcinoma | Substitution - Missense |
c.3266T>C; p.V1089A; 8:68115872-68115872 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4165G>A; p.E1389K; 8:68146286-68146286 |
skin; back | malignant_melanoma; superficial_spreading | Substitution - Missense |
c.3961C>T; p.Q1321*; 8:68134253-68134253 |
skin | malignant_melanoma | Substitution - Nonsense |
c.788G>A; p.R263Q; 8:68038241-68038241 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2160C>T; p.I720I; 8:68090625-68090625 |
skin | malignant_melanoma | Substitution - coding silent |
c.788G>A; p.R263Q; 8:68038241-68038241 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2385C>A; p.F795L; 8:68097033-68097033 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2385C>A; p.F795L; 8:68097033-68097033 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.3961C>T; p.Q1321*; 8:68134253-68134253 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.222C>T; p.F74F; 8:68019557-68019557 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1243T>G; p.F415V; 8:68060683-68060683 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.3290C>A; p.S1097Y; 8:68115896-68115896 |
breast | carcinoma | Substitution - Missense |
c.4604G>A; p.R1535Q; 8:68192525-68192525 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.2857T>A; p.S953T; 8:68108250-68108250 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1569G>A; p.Q523Q; 8:68072570-68072570 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2470G>T; p.E824*; 8:68097118-68097118 |
skin; extremity | malignant_melanoma | Substitution - Nonsense |
c.2311_2312insA; p.S771fs*9; 8:68093665-68093666 |
skin; lower_leg | malignant_melanoma | Insertion - Frameshift |
c.1495G>A; p.D499N; 8:68072496-68072496 |
skin | malignant_melanoma | Substitution - Missense |
c.1683delC; p.R562fs*13; 8:68080483-68080483 |
liver | carcinoma | Deletion - Frameshift |
c.4734G>T; p.K1578N; 8:68224585-68224585 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4734G>T; p.K1578N; 8:68224585-68224585 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4379C>A; p.P1460Q; 8:68191754-68191754 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4734G>T; p.K1578N; 8:68224585-68224585 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2746C>T; p.P916S; 8:68108139-68108139 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.4734G>T; p.K1578N; 8:68224585-68224585 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.598G>A; p.A200T; 8:68030551-68030551 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.565C>T; p.R189W; 8:68030518-68030518 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4734G>T; p.K1578N; 8:68224585-68224585 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3396T>C; p.Y1132Y; 8:68118619-68118619 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1172G>T; p.R391I; 8:68055908-68055908 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3396T>C; p.Y1132Y; 8:68118619-68118619 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.463C>T; p.R155W; 8:68027243-68027243 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.148T>C; p.L50L; 8:68017852-68017852 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.148T>C; p.L50L; 8:68017852-68017852 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1938G>T; p.M646I; 8:68083299-68083299 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.1257G>T; p.L419L; 8:68060697-68060697 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.4182G>T; p.R1394R; 8:68146303-68146303 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4646C>T; p.A1549V; 8:68217657-68217657 |
skin; upper_leg | malignant_melanoma; superficial_spreading | Substitution - Missense |
c.3283G>A; p.E1095K; 8:68115889-68115889 |
skin | malignant_melanoma | Substitution - Missense |
c.1951G>A; p.E651K; 8:68083312-68083312 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.463C>T; p.R155W; 8:68027243-68027243 |
breast | carcinoma | Substitution - Missense |
c.1677A>G; p.L559L; 8:68080477-68080477 |
liver | carcinoma | Substitution - coding silent |
c.4495G>A; p.A1499T; 8:68192416-68192416 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1232T>C; p.L411P; 8:68055968-68055968 |
liver | carcinoma | Substitution - Missense |
c.1610T>C; p.V537A; 8:68077437-68077437 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1759G>A; p.E587K; 8:68080559-68080559 |
skin | malignant_melanoma | Substitution - Missense |
c.3818C>T; p.A1273V; 8:68134110-68134110 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1677A>G; p.L559L; 8:68080477-68080477 |
liver | carcinoma | Substitution - coding silent |
c.1610T>C; p.V537A; 8:68077437-68077437 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4492T>C; p.C1498R; 8:68192413-68192413 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1231C>T; p.L411F; 8:68055967-68055967 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.155G>A; p.R52K; 8:68017859-68017859 |
skin | malignant_melanoma | Substitution - Missense |
c.2540G>A; p.S847N; 8:68097188-68097188 |
skin | malignant_melanoma | Substitution - Missense |
c.4535C>T; p.S1512L; 8:68192456-68192456 |
breast | carcinoma | Substitution - Missense |
c.4535C>T; p.S1512L; 8:68192456-68192456 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.764T>C; p.I255T; 8:68038217-68038217 |
skin | malignant_melanoma | Substitution - Missense |
c.2002G>A; p.V668I; 8:68083363-68083363 |
skin | malignant_melanoma | Substitution - Missense |
c.3070G>T; p.D1024Y; 8:68109547-68109547 |
liver | carcinoma | Substitution - Missense |
c.3070G>T; p.D1024Y; 8:68109547-68109547 |
liver | carcinoma | Substitution - Missense |
c.4782C>G; p.Y1594*; 8:68231339-68231339 |
breast | carcinoma | Substitution - Nonsense |
c.4782C>G; p.Y1594*; 8:68231339-68231339 |
breast | carcinoma | Substitution - Nonsense |
c.2070G>A; p.Q690Q; 8:68087766-68087766 |
skin | malignant_melanoma | Substitution - coding silent |
c.3523C>A; p.L1175I; 8:68120214-68120214 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.141G>A; p.S47S; 8:67952535-67952535 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3523C>A; p.L1175I; 8:68120214-68120214 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1599G>A; p.M533I; 8:68077426-68077426 |
skin | malignant_melanoma | Substitution - Missense |
c.2722C>T; p.R908C; 8:68108115-68108115 |
skin | malignant_melanoma | Substitution - Missense |
c.550C>T; p.L184L; 8:68030503-68030503 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4333A>G; p.N1445D; 8:68157423-68157423 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3599T>A; p.F1200Y; 8:68120924-68120924 |
skin | malignant_melanoma | Substitution - Missense |
c.4494T>C; p.C1498C; 8:68192415-68192415 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.155G>T; p.R52I; 8:68017859-68017859 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.484T>A; p.L162M; 8:68027264-68027264 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.896G>A; p.R299Q; 8:68044543-68044543 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.148T>G; p.L50V; 8:68017852-68017852 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1495G>T; p.D499Y; 8:68072496-68072496 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3500G>A; p.S1167N; 8:68119510-68119510 |
skin; scalp | malignant_melanoma | Substitution - Missense |
c.148T>G; p.L50V; 8:68017852-68017852 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.676G>A; p.E226K; 8:68030629-68030629 |
skin | malignant_melanoma | Substitution - Missense |
c.148T>G; p.L50V; 8:68017852-68017852 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4428C>A; p.L1476L; 8:68192349-68192349 |
breast | carcinoma | Substitution - coding silent |
c.944-1G>A; p.?; 8:68053096-68053096 |
large_intestine; rectum | carcinoma; adenocarcinoma | Unknown |
c.1905G>T; p.K635N; 8:68083266-68083266 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2349T>G; p.A783A; 8:68093703-68093703 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.787C>T; p.R263W; 8:68038240-68038240 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - Missense |
c.4249G>T; p.G1417*; 8:68157339-68157339 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3607G>A; p.E1203K; 8:68120932-68120932 |
skin | malignant_melanoma | Substitution - Missense |
c.1339+1G>A; p.?; 8:68060780-68060780 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Unknown |
c.2041C>T; p.P681S; 8:68087737-68087737 |
skin | malignant_melanoma | Substitution - Missense |
c.2041C>T; p.P681S; 8:68087737-68087737 |
skin | malignant_melanoma | Substitution - Missense |
c.2638G>C; p.D880H; 8:68099766-68099766 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.2323C>T; p.P775S; 8:68093677-68093677 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.1154T>G; p.L385R; 8:68055890-68055890 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.2660C>G; p.A887G; 8:68099788-68099788 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1238G>A; p.S413N; 8:68055974-68055974 |
skin; upper_leg | malignant_melanoma | Substitution - Missense |
c.2323C>T; p.P775S; 8:68093677-68093677 |
skin; upper_leg | malignant_melanoma; nodular | Substitution - Missense |
c.1238G>A; p.S413N; 8:68055974-68055974 |
skin | malignant_melanoma | Substitution - Missense |
c.1975T>C; p.C659R; 8:68083336-68083336 |
pancreas | carcinoma | Substitution - Missense |
c.2476G>A; p.D826N; 8:68097124-68097124 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4760C>T; p.P1587L; 8:68224611-68224611 |
skin | malignant_melanoma | Substitution - Missense |
c.4766C>T; p.S1589F; 8:68224617-68224617 |
skin | malignant_melanoma | Substitution - Missense |
c.664G>C; p.E222Q; 8:68030617-68030617 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.664G>C; p.E222Q; 8:68030617-68030617 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.539T>G; p.L180W; 8:68027319-68027319 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1000G>A; p.A334T; 8:68053153-68053153 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.773G>A; p.G258E; 8:68038226-68038226 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.64C>T; p.R22C; 8:67952458-67952458 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4333A>T; p.N1445Y; 8:68157423-68157423 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3393G>C; p.S1131S; 8:68118616-68118616 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.426C>G; p.I142M; 8:68022125-68022125 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2980A>G; p.T994A; 8:68109457-68109457 |
skin | malignant_melanoma | Substitution - Missense |
c.1580G>A; p.R527H; 8:68077407-68077407 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1580G>A; p.R527H; 8:68077407-68077407 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4061C>A; p.P1354Q; 8:68138491-68138491 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3250C>G; p.R1084G; 8:68115856-68115856 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3207A>G; p.I1069M; 8:68115813-68115813 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.979G>C; p.G327R; 8:68053132-68053132 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.979G>C; p.G327R; 8:68053132-68053132 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.3685G>A; p.V1229I; 8:68121010-68121010 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2575A>G; p.S859G; 8:68099703-68099703 |
soft_tissue; striated_muscle | rhabdomyosarcoma; embryonal | Substitution - Missense |
c.2820C>T; p.V940V; 8:68108213-68108213 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2575A>G; p.S859G; 8:68099703-68099703 |
soft_tissue; striated_muscle | rhabdomyosarcoma; embryonal | Substitution - Missense |
c.2575A>G; p.S859G; 8:68099703-68099703 |
soft_tissue; striated_muscle | rhabdomyosarcoma | Substitution - Missense |
c.3057C>G; p.D1019E; 8:68109534-68109534 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2179G>A; p.V727I; 8:68090644-68090644 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3685G>A; p.V1229I; 8:68121010-68121010 |
pancreas | carcinoma | Substitution - Missense |
c.3001C>T; p.L1001L; 8:68109478-68109478 |
skin | malignant_melanoma | Substitution - coding silent |
c.34G>T; p.E12*; 8:67952428-67952428 |
skin; lower_leg | malignant_melanoma; superficial_spreading | Substitution - Nonsense |
c.3001C>T; p.L1001L; 8:68109478-68109478 |
skin | malignant_melanoma | Substitution - coding silent |
c.1482T>C; p.T494T; 8:68069873-68069873 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2305_2306insA; p.S771fs*9; 8:68093659-68093660 |
skin; lower_leg | malignant_melanoma | Insertion - Frameshift |
c.3001C>T; p.L1001L; 8:68109478-68109478 |
skin | malignant_melanoma | Substitution - coding silent |
c.4310C>T; p.S1437L; 8:68157400-68157400 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.630C>T; p.N210N; 8:68030583-68030583 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4595G>A; p.G1532D; 8:68192516-68192516 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1571G>A; p.G524E; 8:68077398-68077398 |
skin | malignant_melanoma | Substitution - Missense |
c.637G>A; p.E213K; 8:68030590-68030590 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.4023A>C; p.A1341A; 8:68138453-68138453 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2026G>C; p.E676Q; 8:68083387-68083387 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.294A>G; p.E98E; 8:68019629-68019629 |
skin | malignant_melanoma | Substitution - coding silent |
c.4066G>A; p.E1356K; 8:68138496-68138496 |
skin; back | malignant_melanoma | Substitution - Missense |
c.3968T>C; p.L1323P; 8:68134260-68134260 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1306C>T; p.Q436*; 8:68060746-68060746 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2104G>T; p.V702L; 8:68087800-68087800 |
skin | malignant_melanoma | Substitution - Missense |
c.1183C>A; p.L395M; 8:68055919-68055919 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1196G>A; p.R399Q; 8:68055932-68055932 |
skin | malignant_melanoma | Substitution - Missense |
c.1201A>C; p.R401R; 8:68055937-68055937 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1886G>A; p.G629D; 8:68083247-68083247 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2298A>C; p.E766D; 8:68093652-68093652 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1694C>T; p.S565L; 8:68080494-68080494 |
skin | malignant_melanoma | Substitution - Missense |
c.1694C>T; p.S565L; 8:68080494-68080494 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2843C>T; p.P948L; 8:68108236-68108236 |
skin | malignant_melanoma | Substitution - Missense |
c.1400G>A; p.G467E; 8:68069093-68069093 |
skin | malignant_melanoma | Substitution - Missense |
c.1694C>T; p.S565L; 8:68080494-68080494 |
skin; trunk | malignant_melanoma; nodular | Substitution - Missense |
c.4645G>A; p.A1549T; 8:68217656-68217656 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4677C>T; p.I1559I; 8:68217688-68217688 |
skin | malignant_melanoma | Substitution - coding silent |
c.1611T>C; p.V537V; 8:68077438-68077438 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3764C>T; p.S1255L; 8:68127417-68127417 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3884A>T; p.E1295V; 8:68134176-68134176 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1611T>C; p.V537V; 8:68077438-68077438 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3850G>T; p.A1284S; 8:68134142-68134142 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable | Substitution - Missense |
c.1743T>C; p.H581H; 8:68080543-68080543 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1238G>T; p.S413I; 8:68055974-68055974 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2188G>T; p.E730*; 8:68090653-68090653 |
skin; trunk | malignant_melanoma | Substitution - Nonsense |
c.1145G>A; p.G382D; 8:68055881-68055881 |
skin | malignant_melanoma | Substitution - Missense |
c.1657G>A; p.E553K; 8:68080457-68080457 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1657G>A; p.E553K; 8:68080457-68080457 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1657G>A; p.E553K; 8:68080457-68080457 |
skin | malignant_melanoma | Substitution - Missense |
c.2563G>A; p.A855T; 8:68099691-68099691 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1657G>A; p.E553K; 8:68080457-68080457 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.647G>T; p.R216I; 8:68030600-68030600 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.159G>T; p.M53I; 8:68017863-68017863 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1033A>C; p.T345P; 8:68053186-68053186 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.3773A>G; p.E1258G; 8:68134065-68134065 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.518T>C; p.I173T; 8:68027298-68027298 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3381C>A; p.S1127R; 8:68118604-68118604 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.4113A>G; p.E1371E; 8:68146234-68146234 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4087+9T>C; p.?; 8:68138526-68138526 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.2868T>C; p.S956S; 8:68108261-68108261 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3381C>A; p.S1127R; 8:68118604-68118604 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.912G>C; p.V304V; 8:68044559-68044559 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.2868T>C; p.S956S; 8:68108261-68108261 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.962G>C; p.G321A; 8:68053115-68053115 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2190G>A; p.E730E; 8:68090655-68090655 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3950T>C; p.L1317P; 8:68134242-68134242 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.2408G>A; p.G803E; 8:68097056-68097056 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2067C>T; p.F689F; 8:68087763-68087763 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.4120C>T; p.R1374W; 8:68146241-68146241 |
pancreas | carcinoma | Substitution - Missense |
c.4219C>T; p.L1407F; 8:68146340-68146340 |
skin | malignant_melanoma | Substitution - Missense |
c.1729C>T; p.R577*; 8:68080529-68080529 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3181G>A; p.E1061K; 8:68115787-68115787 |
skin | malignant_melanoma | Substitution - Missense |
c.4219C>T; p.L1407F; 8:68146340-68146340 |
skin | malignant_melanoma | Substitution - Missense |
c.500T>C; p.V167A; 8:68027280-68027280 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3708C>T; p.I1236I; 8:68121033-68121033 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1818A>G; p.G606G; 8:68080778-68080778 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.805G>A; p.D269N; 8:68038258-68038258 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3414G>A; p.M1138I; 8:68118637-68118637 |
skin | malignant_melanoma | Substitution - Missense |
c.2349T>C; p.A783A; 8:68093703-68093703 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.805G>A; p.D269N; 8:68038258-68038258 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2998G>T; p.G1000C; 8:68109475-68109475 |
liver | carcinoma | Substitution - Missense |
c.3427G>A; p.E1143K; 8:68119437-68119437 |
skin | malignant_melanoma | Substitution - Missense |
c.2349T>C; p.A783A; 8:68093703-68093703 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.526T>C; p.Y176H; 8:68027306-68027306 |
kidney | carcinoma; renal_cell_carcinoma | Substitution - Missense |
c.526T>C; p.Y176H; 8:68027306-68027306 |
kidney | carcinoma; renal_cell_carcinoma | Substitution - Missense |
c.805G>A; p.D269N; 8:68038258-68038258 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2349T>C; p.A783A; 8:68093703-68093703 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.526T>C; p.Y176H; 8:68027306-68027306 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2998G>T; p.G1000C; 8:68109475-68109475 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.3894G>T; p.M1298I; 8:68134186-68134186 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.288C>A; p.H96Q; 8:68019623-68019623 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2472G>A; p.E824E; 8:68097120-68097120 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3805C>T; p.Q1269*; 8:68134097-68134097 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1284T>G; p.P428P; 8:68060724-68060724 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1745A>G; p.D582G; 8:68080545-68080545 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.4740G>A; p.L1580L; 8:68224591-68224591 |
liver | carcinoma | Substitution - coding silent |
c.1586G>A; p.R529K; 8:68077413-68077413 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2459G>C; p.G820A; 8:68097107-68097107 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.4740G>A; p.L1580L; 8:68224591-68224591 |
liver | carcinoma | Substitution - coding silent |
c.4740G>A; p.L1580L; 8:68224591-68224591 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.2914A>G; p.K972E; 8:68108307-68108307 |
skin | malignant_melanoma | Substitution - Missense |
c.2636C>A; p.T879N; 8:68099764-68099764 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4542C>A; p.S1514S; 8:68192463-68192463 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2576G>A; p.S859N; 8:68099704-68099704 |
breast | carcinoma | Substitution - Missense |
c.3345G>A; p.R1115R; 8:68118568-68118568 |
skin | malignant_melanoma | Substitution - coding silent |
c.4431C>T; p.N1477N; 8:68192352-68192352 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1214C>T; p.T405M; 8:68055950-68055950 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3767-2A>T; p.?; 8:68134057-68134057 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.1906A>T; p.I636F; 8:68083267-68083267 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.3263A>G; p.N1088S; 8:68115869-68115869 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.3797T>G; p.V1266G; 8:68134089-68134089 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1046A>C; p.K349T; 8:68053199-68053199 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1188C>G; p.I396M; 8:68055924-68055924 |
breast | carcinoma | Substitution - Missense |
c.4669C>T; p.R1557C; 8:68217680-68217680 |
skin | malignant_melanoma | Substitution - Missense |
c.1296G>T; p.V432V; 8:68060736-68060736 |
breast | carcinoma | Substitution - coding silent |
c.3955C>T; p.H1319Y; 8:68134247-68134247 |
skin | malignant_melanoma | Substitution - Missense |
c.4669C>T; p.R1557C; 8:68217680-68217680 |
skin; face | malignant_melanoma; nodular | Substitution - Missense |
c.4669C>T; p.R1557C; 8:68217680-68217680 |
skin | malignant_melanoma | Substitution - Missense |
c.1907delT; p.F637fs*7; 8:68083268-68083268 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3366C>G; p.T1122T; 8:68118589-68118589 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1188C>G; p.I396M; 8:68055924-68055924 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1323T>C; p.N441N; 8:68060763-68060763 |
skin | malignant_melanoma | Substitution - coding silent |
c.1548G>A; p.L516L; 8:68072549-68072549 |
skin | malignant_melanoma | Substitution - coding silent |
c.1507C>T; p.H503Y; 8:68072508-68072508 |
skin | malignant_melanoma | Substitution - Missense |
c.1548G>A; p.L516L; 8:68072549-68072549 |
skin; mucosal | malignant_melanoma | Substitution - coding silent |
c.4287T>C; p.F1429F; 8:68157377-68157377 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2682A>G; p.E894E; 8:68099810-68099810 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1209G>T; p.L403L; 8:68055945-68055945 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2026G>A; p.E676K; 8:68083387-68083387 |
skin | malignant_melanoma | Substitution - Missense |
c.3504+1G>A; p.?; 8:68119515-68119515 |
skin | malignant_melanoma | Unknown |
c.224C>G; p.S75*; 8:68019559-68019559 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.391A>C; p.K131Q; 8:68022090-68022090 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1715C>T; p.S572L; 8:68080515-68080515 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4729G>T; p.A1577S; 8:68224580-68224580 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.4635C>T; p.A1545A; 8:68217646-68217646 |
skin; chest | malignant_melanoma | Substitution - coding silent |
c.4558A>G; p.R1520G; 8:68192479-68192479 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4558A>G; p.R1520G; 8:68192479-68192479 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1979T>C; p.L660S; 8:68083340-68083340 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.4558A>G; p.R1520G; 8:68192479-68192479 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3825C>T; p.V1275V; 8:68134117-68134117 |
breast | carcinoma | Substitution - coding silent |
c.3533G>A; p.G1178E; 8:68120224-68120224 |
skin | malignant_melanoma | Substitution - Missense |
c.1294G>A; p.V432M; 8:68060734-68060734 |
pancreas | carcinoma | Substitution - Missense |
c.4006G>A; p.E1336K; 8:68138436-68138436 |
skin | malignant_melanoma | Substitution - Missense |
c.1294G>A; p.V432M; 8:68060734-68060734 |
pancreas | NS | Substitution - Missense |
c.483C>T; p.P161P; 8:68027263-68027263 |
skin | malignant_melanoma | Substitution - coding silent |
c.2075G>A; p.R692Q; 8:68087771-68087771 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2075G>A; p.R692Q; 8:68087771-68087771 |
breast | carcinoma | Substitution - Missense |
c.68T>C; p.L23P; 8:67952462-67952462 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3433C>T; p.P1145S; 8:68119443-68119443 |
skin; upper_leg | malignant_melanoma | Substitution - Missense |
c.4219C>A; p.L1407I; 8:68146340-68146340 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1309G>A; p.A437T; 8:68060749-68060749 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3949C>T; p.L1317F; 8:68134241-68134241 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2815C>T; p.H939Y; 8:68108208-68108208 |
skin | malignant_melanoma | Substitution - Missense |
c.1573G>T; p.D525Y; 8:68077400-68077400 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.317G>A; p.G106E; 8:68019652-68019652 |
NS | malignant_melanoma | Substitution - Missense |
c.3587G>A; p.G1196E; 8:68120278-68120278 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.2302C>A; p.L768I; 8:68093656-68093656 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.910G>T; p.V304L; 8:68044557-68044557 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.458G>A; p.G153E; 8:68027238-68027238 |
skin | malignant_melanoma | Substitution - Missense |
c.4804C>A; p.P1602T; 8:68231361-68231361 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1962C>T; p.C654C; 8:68083323-68083323 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.951C>T; p.F317F; 8:68053104-68053104 |
skin | malignant_melanoma | Substitution - coding silent |
c.3751C>T; p.L1251F; 8:68127404-68127404 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.203A>G; p.E68G; 8:68017907-68017907 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4233A>T; p.A1411A; 8:68157323-68157323 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2005C>T; p.L669F; 8:68083366-68083366 |
skin | malignant_melanoma | Substitution - Missense |
c.1954G>A; p.V652M; 8:68083315-68083315 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3184C>T; p.R1062C; 8:68115790-68115790 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3400C>T; p.H1134Y; 8:68118623-68118623 |
skin | malignant_melanoma | Substitution - Missense |
c.2633C>A; p.P878H; 8:68099761-68099761 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2095G>T; p.V699L; 8:68087791-68087791 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4577T>C; p.I1526T; 8:68192498-68192498 |
skin | malignant_melanoma | Substitution - Missense |
c.3184C>T; p.R1062C; 8:68115790-68115790 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3711G>A; p.R1237R; 8:68121036-68121036 |
skin | malignant_melanoma | Substitution - coding silent |
c.3814G>T; p.V1272L; 8:68134106-68134106 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3711G>A; p.R1237R; 8:68121036-68121036 |
skin; trunk | malignant_melanoma | Substitution - coding silent |
c.3711G>A; p.R1237R; 8:68121036-68121036 |
skin | malignant_melanoma | Substitution - coding silent |
c.3766G>A; p.D1256N; 8:68127419-68127419 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.3766G>A; p.D1256N; 8:68127419-68127419 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.3711G>A; p.R1237R; 8:68121036-68121036 |
skin | malignant_melanoma | Substitution - coding silent |
c.3711G>A; p.R1237R; 8:68121036-68121036 |
skin | malignant_melanoma | Substitution - coding silent |
c.3851C>T; p.A1284V; 8:68134143-68134143 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2248A>T; p.K750*; 8:68090713-68090713 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.651G>A; p.Q217Q; 8:68030604-68030604 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.792G>T; p.V264V; 8:68038245-68038245 |
skin | malignant_melanoma | Substitution - coding silent |
c.2799C>T; p.F933F; 8:68108192-68108192 |
skin | malignant_melanoma | Substitution - coding silent |
c.1930G>A; p.V644I; 8:68083291-68083291 |
breast | carcinoma | Substitution - Missense |
c.2185A>T; p.K729*; 8:68090650-68090650 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3245G>A; p.S1082N; 8:68115851-68115851 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.288C>T; p.H96H; 8:68019623-68019623 |
skin | malignant_melanoma | Substitution - coding silent |
c.3900T>G; p.T1300T; 8:68134192-68134192 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4344C>A; p.L1448L; 8:68157434-68157434 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.288C>T; p.H96H; 8:68019623-68019623 |
skin | malignant_melanoma | Substitution - coding silent |
c.1895T>C; p.V632A; 8:68083256-68083256 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.2021C>A; p.P674Q; 8:68083382-68083382 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.151C>A; p.H51N; 8:68017855-68017855 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2786A>G; p.H929R; 8:68108179-68108179 |
skin | malignant_melanoma | Substitution - Missense |
c.1905delG; p.I636fs*8; 8:68083266-68083266 |
kidney | carcinoma; renal_cell_carcinoma | Deletion - Frameshift |
c.1084C>T; p.R362W; 8:68053237-68053237 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1084C>T; p.R362W; 8:68053237-68053237 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.3599T>C; p.F1200S; 8:68120924-68120924 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1084C>T; p.R362W; 8:68053237-68053237 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2526C>T; p.P842P; 8:68097174-68097174 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.132C>T; p.F44F; 8:67952526-67952526 |
skin | malignant_melanoma | Substitution - coding silent |
c.2032G>T; p.V678L; 8:68087728-68087728 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1570-1G>T; p.?; 8:68077396-68077396 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.4712C>A; p.A1571E; 8:68224563-68224563 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1084C>T; p.R362W; 8:68053237-68053237 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.4419G>A; p.M1473I; 8:68192340-68192340 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2754T>C; p.F918F; 8:68108147-68108147 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2661C>T; p.A887A; 8:68099789-68099789 |
skin; face | malignant_melanoma; nodular | Substitution - coding silent |
c.3136C>A; p.Q1046K; 8:68109613-68109613 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2475C>T; p.Y825Y; 8:68097123-68097123 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4072G>A; p.E1358K; 8:68138502-68138502 |
skin | malignant_melanoma | Substitution - Missense |
c.3539C>T; p.A1180V; 8:68120230-68120230 |
skin | malignant_melanoma | Substitution - Missense |
c.3811C>T; p.L1271F; 8:68134103-68134103 |
skin | malignant_melanoma | Substitution - Missense |
c.1382G>A; p.R461K; 8:68069075-68069075 |
skin | malignant_melanoma | Substitution - Missense |
c.2221G>T; p.A741S; 8:68090686-68090686 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.3505G>T; p.V1169L; 8:68120196-68120196 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1569+1G>A; p.?; 8:68072571-68072571 |
skin | malignant_melanoma | Unknown |
c.4179A>G; p.Q1393Q; 8:68146300-68146300 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2074C>T; p.R692W; 8:68087770-68087770 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.3070G>A; p.D1024N; 8:68109547-68109547 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4653C>T; p.S1551S; 8:68217664-68217664 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4653C>T; p.S1551S; 8:68217664-68217664 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1648_1649insA; p.S552fs*6; 8:68080448-68080449 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1279A>G; p.R427G; 8:68060719-68060719 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.562_563CC>TT; p.P188L; 8:68030515-68030516 |
skin | malignant_melanoma | Substitution - Missense |
c.3446G>A; p.R1149H; 8:68119456-68119456 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1195C>A; p.R399R; 8:68055931-68055931 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.3670A>C; p.N1224H; 8:68120995-68120995 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.832A>T; p.K278*; 8:68038285-68038285 |
skin; trunk | malignant_melanoma | Substitution - Nonsense |
c.502A>G; p.T168A; 8:68027282-68027282 |
skin | malignant_melanoma | Substitution - Missense |
c.3233G>A; p.G1078E; 8:68115839-68115839 |
skin | malignant_melanoma | Substitution - Missense |
c.2354A>G; p.D785G; 8:68093708-68093708 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1116A>C; p.Q372H; 8:68055852-68055852 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.930G>T; p.V310V; 8:68044577-68044577 |
skin | malignant_melanoma | Substitution - coding silent |
c.713A>C; p.N238T; 8:68038166-68038166 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1612G>A; p.G538R; 8:68077439-68077439 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3716T>A; p.F1239Y; 8:68121041-68121041 |
breast | carcinoma | Substitution - Missense |
c.3489G>A; p.E1163E; 8:68119499-68119499 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1692_1693insT; p.S565fs*3; 8:68080492-68080493 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.2797T>A; p.F933I; 8:68108190-68108190 |
skin | malignant_melanoma | Substitution - Missense |
c.1692_1693insT; p.S565fs*3; 8:68080492-68080493 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.3486T>A; p.L1162L; 8:68119496-68119496 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.889C>T; p.R297C; 8:68044536-68044536 |
NS | malignant_melanoma | Substitution - Missense |
c.889C>T; p.R297C; 8:68044536-68044536 |
skin | malignant_melanoma | Substitution - Missense |
c.889C>T; p.R297C; 8:68044536-68044536 |
skin | malignant_melanoma | Substitution - Missense |
c.2651A>C; p.K884T; 8:68099779-68099779 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.889C>T; p.R297C; 8:68044536-68044536 |
skin | malignant_melanoma | Substitution - Missense |
c.4323C>T; p.V1441V; 8:68157413-68157413 |
breast | carcinoma | Substitution - coding silent |
c.889C>T; p.R297C; 8:68044536-68044536 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.170C>T; p.A57V; 8:68017874-68017874 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1613G>T; p.G538V; 8:68077440-68077440 |
liver | carcinoma | Substitution - Missense |
c.1613G>T; p.G538V; 8:68077440-68077440 |
liver | carcinoma | Substitution - Missense |
c.170C>T; p.A57V; 8:68017874-68017874 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2123C>T; p.A708V; 8:68090588-68090588 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.904A>C; p.T302P; 8:68044551-68044551 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2720C>G; p.S907C; 8:68108113-68108113 |
breast | carcinoma | Substitution - Missense |
c.4568C>T; p.A1523V; 8:68192489-68192489 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1125G>T; p.W375C; 8:68055861-68055861 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4568C>T; p.A1523V; 8:68192489-68192489 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.403G>T; p.E135*; 8:68022102-68022102 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.828A>T; p.K276N; 8:68038281-68038281 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.3313A>C; p.R1105R; 8:68115919-68115919 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1941A>G; p.R647R; 8:68083302-68083302 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1102T>G; p.L368V; 8:68055838-68055838 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.2714A>C; p.K905T; 8:68099842-68099842 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1684C>T; p.R562C; 8:68080484-68080484 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1255C>T; p.L419L; 8:68060695-68060695 |
skin; mucosal | malignant_melanoma | Substitution - coding silent |
c.2714A>C; p.K905T; 8:68099842-68099842 |
breast | carcinoma | Substitution - Missense |
c.2714A>C; p.K905T; 8:68099842-68099842 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.4334A>C; p.N1445T; 8:68157424-68157424 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1857A>C; p.V619V; 8:68080817-68080817 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4087+2T>A; p.?; 8:68138519-68138519 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.40G>A; p.A14T; 8:67952434-67952434 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.984G>A; p.W328*; 8:68053137-68053137 |
skin | malignant_melanoma | Substitution - Nonsense |
c.2553+4G>T; p.?; 8:68097205-68097205 |
skin; head_neck | malignant_melanoma; superficial_spreading | Unknown |
c.329T>C; p.L110P; 8:68019664-68019664 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.428G>T; p.R143L; 8:68022127-68022127 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.505C>A; p.P169T; 8:68027285-68027285 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1712G>A; p.G571E; 8:68080512-68080512 |
skin | malignant_melanoma | Substitution - Missense |
c.890G>A; p.R297H; 8:68044537-68044537 |
pancreas | carcinoma | Substitution - Missense |
c.2138T>G; p.L713R; 8:68090603-68090603 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4262G>A; p.R1421K; 8:68157352-68157352 |
skin | malignant_melanoma | Substitution - Missense |
c.1609G>A; p.V537I; 8:68077436-68077436 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1320A>G; p.E440E; 8:68060760-68060760 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - coding silent |
c.1609G>A; p.V537I; 8:68077436-68077436 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.890G>A; p.R297H; 8:68044537-68044537 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.2385C>G; p.F795L; 8:68097033-68097033 |
pancreas | carcinoma | Substitution - Missense |
c.4731G>A; p.A1577A; 8:68224582-68224582 |
skin | malignant_melanoma | Substitution - coding silent |
c.1493G>T; p.R498I; 8:68069884-68069884 |
pancreas | NS | Substitution - Missense |
c.4731G>A; p.A1577A; 8:68224582-68224582 |
skin | malignant_melanoma | Substitution - coding silent |
c.4421G>A; p.R1474K; 8:68192342-68192342 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2855C>A; p.T952N; 8:68108248-68108248 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.4421G>A; p.R1474K; 8:68192342-68192342 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2855C>A; p.T952N; 8:68108248-68108248 |
liver | carcinoma | Substitution - Missense |
c.415A>G; p.I139V; 8:68022114-68022114 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3384G>T; p.Q1128H; 8:68118607-68118607 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1493G>T; p.R498I; 8:68069884-68069884 |
pancreas | carcinoma | Substitution - Missense |
c.4113A>C; p.E1371D; 8:68146234-68146234 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.941C>A; p.T314N; 8:68044588-68044588 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.99G>A; p.K33K; 8:67952493-67952493 |
breast | carcinoma | Substitution - coding silent |
c.18C>T; p.R6R; 8:67952412-67952412 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3900T>A; p.T1300T; 8:68134192-68134192 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.99G>A; p.K33K; 8:67952493-67952493 |
liver | carcinoma | Substitution - coding silent |
c.99G>A; p.K33K; 8:67952493-67952493 |
thyroid | other; neoplasm | Substitution - coding silent |
c.2132C>T; p.A711V; 8:68090597-68090597 |
skin | malignant_melanoma | Substitution - Missense |
c.2716-1G>A; p.?; 8:68108108-68108108 |
skin | malignant_melanoma | Unknown |
c.2716-1G>A; p.?; 8:68108108-68108108 |
skin | malignant_melanoma | Unknown |
c.2114G>A; p.G705E; 8:68090579-68090579 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3621G>C; p.K1207N; 8:68120946-68120946 |
breast | carcinoma | Substitution - Missense |
c.4288C>T; p.Q1430*; 8:68157378-68157378 |
NS | malignant_melanoma | Substitution - Nonsense |
c.4619T>C; p.V1540A; 8:68217630-68217630 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.350G>A; p.R117H; 8:68022049-68022049 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.3454C>G; p.H1152D; 8:68119464-68119464 |
breast | carcinoma | Substitution - Missense |
c.3493C>A; p.L1165I; 8:68119503-68119503 |
liver | carcinoma | Substitution - Missense |
c.350G>A; p.R117H; 8:68022049-68022049 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3493C>A; p.L1165I; 8:68119503-68119503 |
liver | carcinoma | Substitution - Missense |
c.3881A>C; p.K1294T; 8:68134173-68134173 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.772G>T; p.G258*; 8:68038225-68038225 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3328G>T; p.D1110Y; 8:68118551-68118551 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4180C>T; p.R1394W; 8:68146301-68146301 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3881A>C; p.K1294T; 8:68134173-68134173 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2269_2270insT; p.Y758fs*2; 8:68093623-68093624 |
liver | carcinoma | Insertion - Frameshift |
c.2280C>A; p.S760R; 8:68093634-68093634 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.2476G>T; p.D826Y; 8:68097124-68097124 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2806A>G; p.T936A; 8:68108199-68108199 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3764C>A; p.S1255*; 8:68127417-68127417 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.2940G>A; p.G980G; 8:68109417-68109417 |
skin | malignant_melanoma | Substitution - coding silent |
c.4541C>T; p.S1514F; 8:68192462-68192462 |
skin; neck | malignant_melanoma | Substitution - Missense |
c.2895G>A; p.R965R; 8:68108288-68108288 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.895C>T; p.R299W; 8:68044542-68044542 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4541C>T; p.S1514F; 8:68192462-68192462 |
skin | malignant_melanoma | Substitution - Missense |
c.1057T>C; p.F353L; 8:68053210-68053210 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1425G>T; p.M475I; 8:68069118-68069118 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3067C>A; p.Q1023K; 8:68109544-68109544 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1064C>T; p.A355V; 8:68053217-68053217 |
central_nervous_system; brainstem | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.1686delT; p.S565fs*10; 8:68080486-68080486 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3251G>C; p.R1084P; 8:68115857-68115857 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1686delT; p.S565fs*10; 8:68080486-68080486 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1039G>A; p.E347K; 8:68053192-68053192 |
skin | malignant_melanoma | Substitution - Missense |
c.1579C>A; p.R527S; 8:68077406-68077406 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4609A>T; p.T1537S; 8:68217620-68217620 |
breast | carcinoma | Substitution - Missense |
c.4506T>A; p.A1502A; 8:68192427-68192427 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1099A>C; p.K367Q; 8:68055835-68055835 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4399G>A; p.A1467T; 8:68191774-68191774 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3583C>T; p.R1195*; 8:68120274-68120274 |
ovary | carcinoma | Substitution - Nonsense |
c.1973C>T; p.S658L; 8:68083334-68083334 |
skin | malignant_melanoma | Substitution - Missense |
c.2154C>A; p.C718*; 8:68090619-68090619 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1730G>A; p.R577Q; 8:68080530-68080530 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2168A>C; p.N723T; 8:68090633-68090633 |
skin | malignant_melanoma | Substitution - Missense |
c.1288G>A; p.E430K; 8:68060728-68060728 |
skin; neck | malignant_melanoma | Substitution - Missense |
c.1088G>A; p.R363Q; 8:68053241-68053241 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1730G>A; p.R577Q; 8:68080530-68080530 |
skin | malignant_melanoma | Substitution - Missense |
c.1088G>A; p.R363Q; 8:68053241-68053241 |
breast | carcinoma | Substitution - Missense |
c.1912G>A; p.A638T; 8:68083273-68083273 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1088G>A; p.R363Q; 8:68053241-68053241 |
breast | carcinoma | Substitution - Missense |
c.4754G>A; p.R1585Q; 8:68224605-68224605 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3422G>A; p.G1141D; 8:68119432-68119432 |
skin; head_neck | malignant_melanoma; superficial_spreading | Substitution - Missense |
c.4578C>T; p.I1526I; 8:68192499-68192499 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3420A>T; p.S1140S; 8:68118643-68118643 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3033C>G; p.L1011L; 8:68109510-68109510 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2003T>G; p.V668G; 8:68083364-68083364 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.464G>A; p.R155Q; 8:68027244-68027244 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1062A>C; p.E354D; 8:68053215-68053215 |
skin | malignant_melanoma | Substitution - Missense |
c.464G>A; p.R155Q; 8:68027244-68027244 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1239-7C>G; p.?; 8:68060672-68060672 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.464G>A; p.R155Q; 8:68027244-68027244 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2967G>C; p.Q989H; 8:68109444-68109444 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1642G>A; p.V548I; 8:68077469-68077469 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3387C>T; p.C1129C; 8:68118610-68118610 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.441G>C; p.L147F; 8:68022140-68022140 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3158C>T; p.S1053L; 8:68115764-68115764 |
skin | malignant_melanoma | Substitution - Missense |
c.2325_2326CC>TT; p.P775>?; 8:68093679-68093680 |
skin; extremity | malignant_melanoma | Complex |
c.3528delA; p.Q1179fs*4; 8:68120219-68120219 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1388G>T; p.R463L; 8:68069081-68069081 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.2416G>A; p.E806K; 8:68097064-68097064 |
skin | malignant_melanoma | Substitution - Missense |
c.1900A>G; p.K634E; 8:68083261-68083261 |
pancreas | NS | Substitution - Missense |
c.3414G>T; p.M1138I; 8:68118637-68118637 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1598T>A; p.M533K; 8:68077425-68077425 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2981C>T; p.T994I; 8:68109458-68109458 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.3412A>T; p.M1138L; 8:68118635-68118635 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.602T>C; p.L201P; 8:68030555-68030555 |
breast | carcinoma | Substitution - Missense |
c.2259C>T; p.S753S; 8:68093613-68093613 |
skin | malignant_melanoma | Substitution - coding silent |
c.428G>A; p.R143Q; 8:68022127-68022127 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3852G>A; p.A1284A; 8:68134144-68134144 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4214C>T; p.P1405L; 8:68146335-68146335 |
oesophagus | carcinoma | Substitution - Missense |
c.3852G>A; p.A1284A; 8:68134144-68134144 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2447A>T; p.H816L; 8:68097095-68097095 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2298A>G; p.E766E; 8:68093652-68093652 |
liver | carcinoma | Substitution - coding silent |
c.483C>A; p.P161P; 8:68027263-68027263 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2298A>G; p.E766E; 8:68093652-68093652 |
liver | carcinoma | Substitution - coding silent |
c.948T>G; p.D316E; 8:68053101-68053101 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2915A>T; p.K972I; 8:68108308-68108308 |
liver | carcinoma | Substitution - Missense |
c.1087C>T; p.R363W; 8:68053240-68053240 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.1879-2A>G; p.?; 8:68083238-68083238 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Unknown |
c.1087C>T; p.R363W; 8:68053240-68053240 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4700G>T; p.R1567L; 8:68217711-68217711 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.487G>A; p.E163K; 8:68027267-68027267 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1314A>G; p.L438L; 8:68060754-68060754 |
skin | malignant_melanoma | Substitution - coding silent |
c.987G>A; p.K329K; 8:68053140-68053140 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1863G>A; p.K621K; 8:68080823-68080823 |
skin | malignant_melanoma | Substitution - coding silent |
c.1340-9T>G; p.?; 8:68069024-68069024 |
liver | carcinoma | Unknown |
c.1695G>A; p.S565S; 8:68080495-68080495 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1632T>C; p.F544F; 8:68077459-68077459 |
skin | malignant_melanoma | Substitution - coding silent |
c.1695G>A; p.S565S; 8:68080495-68080495 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1695G>A; p.S565S; 8:68080495-68080495 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4700G>A; p.R1567Q; 8:68217711-68217711 |
prostate | carcinoma | Substitution - Missense |
c.3702G>A; p.Q1234Q; 8:68121027-68121027 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.577G>T; p.D193Y; 8:68030530-68030530 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.891T>G; p.R297R; 8:68044538-68044538 |
skin | malignant_melanoma | Substitution - coding silent |
c.1340-9T>G; p.?; 8:68069024-68069024 |
liver | carcinoma | Unknown |
c.1695G>A; p.S565S; 8:68080495-68080495 |
skin | malignant_melanoma | Substitution - coding silent |
c.1656C>T; p.S552S; 8:68080456-68080456 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1695G>A; p.S565S; 8:68080495-68080495 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2700A>G; p.I900M; 8:68099828-68099828 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2531G>A; p.G844D; 8:68097179-68097179 |
skin; back | malignant_melanoma; superficial_spreading | Substitution - Missense |
c.2151G>A; p.Q717Q; 8:68090616-68090616 |
breast | carcinoma | Substitution - coding silent |
c.1602A>G; p.I534M; 8:68077429-68077429 |
NS | malignant_melanoma | Substitution - Missense |
c.2302C>T; p.L768F; 8:68093656-68093656 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1570-1G>A; p.?; 8:68077396-68077396 |
skin | malignant_melanoma | Unknown |
c.1387C>T; p.R463C; 8:68069080-68069080 |
skin | malignant_melanoma | Substitution - Missense |
c.1387C>T; p.R463C; 8:68069080-68069080 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.4656C>T; p.H1552H; 8:68217667-68217667 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3646C>T; p.L1216F; 8:68120971-68120971 |
oesophagus | carcinoma | Substitution - Missense |
c.1339+2T>C; p.?; 8:68060781-68060781 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.697G>T; p.G233C; 8:68030650-68030650 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.697G>T; p.G233C; 8:68030650-68030650 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.697G>T; p.G233C; 8:68030650-68030650 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.697G>T; p.G233C; 8:68030650-68030650 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1493+1G>C; p.?; 8:68069885-68069885 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.697G>T; p.G233C; 8:68030650-68030650 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.697G>T; p.G233C; 8:68030650-68030650 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.697G>T; p.G233C; 8:68030650-68030650 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.697G>T; p.G233C; 8:68030650-68030650 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.697G>T; p.G233C; 8:68030650-68030650 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.697G>T; p.G233C; 8:68030650-68030650 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3882G>A; p.K1294K; 8:68134174-68134174 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.697G>T; p.G233C; 8:68030650-68030650 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.697G>T; p.G233C; 8:68030650-68030650 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.697G>T; p.G233C; 8:68030650-68030650 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.697G>T; p.G233C; 8:68030650-68030650 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1000G>T; p.A334S; 8:68053153-68053153 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4642C>T; p.L1548L; 8:68217653-68217653 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2702C>T; p.S901F; 8:68099830-68099830 |
skin | malignant_melanoma | Substitution - Missense |
c.2702C>T; p.S901F; 8:68099830-68099830 |
skin | malignant_melanoma | Substitution - Missense |
c.1324G>A; p.G442R; 8:68060764-68060764 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3932T>C; p.I1311T; 8:68134224-68134224 |
liver | carcinoma | Substitution - Missense |
c.1999A>C; p.R667R; 8:68083360-68083360 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1129A>G; p.M377V; 8:68055865-68055865 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4603C>G; p.R1535G; 8:68192524-68192524 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4709G>A; p.G1570E; 8:68224560-68224560 |
skin | malignant_melanoma | Substitution - Missense |
c.1685G>T; p.R562L; 8:68080485-68080485 |
skin | malignant_melanoma | Substitution - Missense |
c.2205C>T; p.V735V; 8:68090670-68090670 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.419G>A; p.R140K; 8:68022118-68022118 |
skin | malignant_melanoma | Substitution - Missense |
c.2108G>T; p.G703V; 8:68087804-68087804 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.4367C>G; p.S1456*; 8:68191742-68191742 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1051G>A; p.E351K; 8:68053204-68053204 |
skin | malignant_melanoma | Substitution - Missense |
c.515G>T; p.R172I; 8:68027295-68027295 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3132T>G; p.V1044V; 8:68109609-68109609 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.74T>C; p.V25A; 8:67952468-67952468 |
pancreas | carcinoma | Substitution - Missense |
c.74T>C; p.V25A; 8:67952468-67952468 |
pancreas | carcinoma | Substitution - Missense |
c.498A>T; p.L166F; 8:68027278-68027278 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3840G>T; p.E1280D; 8:68134132-68134132 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1879-1G>C; p.?; 8:68083239-68083239 |
lung | carcinoma; adenocarcinoma | Unknown |
c.2813G>T; p.C938F; 8:68108206-68108206 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.349C>T; p.R117C; 8:68022048-68022048 |
skin | malignant_melanoma | Substitution - Missense |
c.4581C>T; p.I1527I; 8:68192502-68192502 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.3321T>C; p.S1107S; 8:68115927-68115927 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3231G>T; p.K1077N; 8:68115837-68115837 |
skin | malignant_melanoma | Substitution - Missense |
c.3079C>G; p.Q1027E; 8:68109556-68109556 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2343G>A; p.G781G; 8:68093697-68093697 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4603C>T; p.R1535W; 8:68192524-68192524 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4341G>T; p.K1447N; 8:68157431-68157431 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4087A>C; p.N1363H; 8:68138517-68138517 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.783A>C; p.Q261H; 8:68038236-68038236 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable | Substitution - Missense |
c.3093C>T; p.G1031G; 8:68109570-68109570 |
skin | malignant_melanoma | Substitution - coding silent |
c.270C>T; p.V90V; 8:68019605-68019605 |
skin; chest | malignant_melanoma | Substitution - coding silent |
c.1142A>G; p.Q381R; 8:68055878-68055878 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.1142A>G; p.Q381R; 8:68055878-68055878 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.1415G>T; p.R472I; 8:68069108-68069108 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1645C>T; p.L549F; 8:68080445-68080445 |
skin | malignant_melanoma | Substitution - Missense |
c.2887G>A; p.D963N; 8:68108280-68108280 |
skin | malignant_melanoma | Substitution - Missense |
c.2615C>T; p.S872F; 8:68099743-68099743 |
skin | malignant_melanoma | Substitution - Missense |
c.1261G>A; p.E421K; 8:68060701-68060701 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.1415G>T; p.R472I; 8:68069108-68069108 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.119G>A; p.G40D; 8:67952513-67952513 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1226G>A; p.C409Y; 8:68055962-68055962 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.4376C>G; p.P1459R; 8:68191751-68191751 |
skin | malignant_melanoma | Substitution - Missense |
c.2396C>T; p.A799V; 8:68097044-68097044 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4250G>A; p.G1417E; 8:68157340-68157340 |
skin | malignant_melanoma | Substitution - Missense |
c.2842C>T; p.P948S; 8:68108235-68108235 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.799C>A; p.L267I; 8:68038252-68038252 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2842C>T; p.P948S; 8:68108235-68108235 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2776T>C; p.S926P; 8:68108169-68108169 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2776T>C; p.S926P; 8:68108169-68108169 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3471G>T; p.K1157N; 8:68119481-68119481 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.30C>T; p.R10R; 8:67952424-67952424 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2776T>C; p.S926P; 8:68108169-68108169 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.768T>A; p.S256S; 8:68038221-68038221 |
pancreas | carcinoma | Substitution - coding silent |
c.2776T>C; p.S926P; 8:68108169-68108169 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1046A>T; p.K349M; 8:68053199-68053199 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1576T>A; p.C526S; 8:68077403-68077403 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.3665C>T; p.P1222L; 8:68120990-68120990 |
skin | malignant_melanoma | Substitution - Missense |
c.2326C>A; p.P776T; 8:68093680-68093680 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.2776T>C; p.S926P; 8:68108169-68108169 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1106G>A; p.G369E; 8:68055842-68055842 |
skin | malignant_melanoma | Substitution - Missense |
c.17G>A; p.R6H; 8:67952411-67952411 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4493G>C; p.C1498S; 8:68192414-68192414 |
skin | malignant_melanoma | Substitution - Missense |
c.2838T>G; p.S946S; 8:68108231-68108231 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2343G>T; p.G781G; 8:68093697-68093697 |
skin; foot | malignant_melanoma; acral_lentiginous | Substitution - coding silent |
c.2303T>C; p.L768P; 8:68093657-68093657 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2571T>C; p.A857A; 8:68099699-68099699 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3963G>C; p.Q1321H; 8:68134255-68134255 |
skin | malignant_melanoma | Substitution - Missense |
c.4711G>T; p.A1571S; 8:68224562-68224562 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4567_4568insGCC; p.A1523>GP; 8:68192488-68192489 |
eye; uveal_tract | malignant_melanoma; spindle | Complex - insertion inframe |
c.2464G>A; p.V822M; 8:68097112-68097112 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2777C>T; p.S926F; 8:68108170-68108170 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2385C>T; p.F795F; 8:68097033-68097033 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2881C>T; p.Q961*; 8:68108274-68108274 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1609G>T; p.V537F; 8:68077436-68077436 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3568T>C; p.Y1190H; 8:68120259-68120259 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2385C>T; p.F795F; 8:68097033-68097033 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.2464G>A; p.V822M; 8:68097112-68097112 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3914G>T; p.R1305M; 8:68134206-68134206 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4368A>G; p.S1456S; 8:68191743-68191743 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1827C>A; p.D609E; 8:68080787-68080787 |
skin | malignant_melanoma | Substitution - Missense |
c.3497T>A; p.F1166Y; 8:68119507-68119507 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2696G>T; p.R899I; 8:68099824-68099824 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2076G>A; p.R692R; 8:68087772-68087772 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2666G>T; p.C889F; 8:68099794-68099794 |
liver | carcinoma | Substitution - Missense |
c.2666G>T; p.C889F; 8:68099794-68099794 |
liver | carcinoma | Substitution - Missense |
c.3223A>G; p.N1075D; 8:68115829-68115829 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.877C>A; p.R293R; 8:68044524-68044524 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1932T>A; p.V644V; 8:68083293-68083293 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2195A>C; p.H732P; 8:68090660-68090660 |
breast | carcinoma | Substitution - Missense |
c.770C>T; p.S257F; 8:68038223-68038223 |
skin | malignant_melanoma | Substitution - Missense |
c.839+4A>G; p.?; 8:68038296-68038296 |
oesophagus | carcinoma; adenocarcinoma | Unknown |
c.2057G>A; p.G686E; 8:68087753-68087753 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2641C>T; p.L881F; 8:68099769-68099769 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.307C>T; p.Q103*; 8:68019642-68019642 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.2564C>A; p.A855D; 8:68099692-68099692 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.839+5G>T; p.?; 8:68038297-68038297 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.3419C>G; p.S1140*; 8:68118642-68118642 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.2641C>T; p.L881F; 8:68099769-68099769 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2520T>G; p.I840M; 8:68097168-68097168 |
skin | malignant_melanoma | Substitution - Missense |
c.197C>G; p.T66R; 8:68017901-68017901 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4791C>T; p.C1597C; 8:68231348-68231348 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.154A>G; p.R52G; 8:68017858-68017858 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.292G>A; p.E98K; 8:68019627-68019627 |
skin | malignant_melanoma | Substitution - Missense |
c.1696G>A; p.D566N; 8:68080496-68080496 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1686_1687insT; p.S565fs*3; 8:68080486-68080487 |
stomach | carcinoma; intestinal_adenocarcinoma | Insertion - Frameshift |
c.4638C>T; p.I1546I; 8:68217649-68217649 |
skin | malignant_melanoma | Substitution - coding silent |
c.274G>A; p.E92K; 8:68019609-68019609 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2715G>T; p.K905N; 8:68099843-68099843 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2188G>A; p.E730K; 8:68090653-68090653 |
skin | malignant_melanoma | Substitution - Missense |
c.465G>A; p.R155R; 8:68027245-68027245 |
skin | malignant_melanoma | Substitution - coding silent |
c.4741G>A; p.G1581R; 8:68224592-68224592 |
NS | malignant_melanoma | Substitution - Missense |
c.3732G>A; p.K1244K; 8:68127385-68127385 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3936G>A; p.A1312A; 8:68134228-68134228 |
skin | malignant_melanoma | Substitution - coding silent |
c.1200G>A; p.K400K; 8:68055936-68055936 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.812T>C; p.L271P; 8:68038265-68038265 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4244T>C; p.M1415T; 8:68157334-68157334 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.2350T>C; p.F784L; 8:68093704-68093704 |
skin | malignant_melanoma | Substitution - Missense |
c.3612G>A; p.M1204I; 8:68120937-68120937 |
skin | malignant_melanoma | Substitution - Missense |
c.1284T>C; p.P428P; 8:68060724-68060724 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1359C>T; p.F453F; 8:68069052-68069052 |
skin | malignant_melanoma | Substitution - coding silent |
c.1460G>T; p.C487F; 8:68069851-68069851 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3482G>A; p.C1161Y; 8:68119492-68119492 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3482G>A; p.C1161Y; 8:68119492-68119492 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3482G>A; p.C1161Y; 8:68119492-68119492 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.1558T>G; p.L520V; 8:68072559-68072559 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2768C>T; p.S923F; 8:68108161-68108161 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3482G>A; p.C1161Y; 8:68119492-68119492 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4210C>T; p.H1404Y; 8:68146331-68146331 |
skin | malignant_melanoma | Substitution - Missense |
c.4050T>A; p.F1350L; 8:68138480-68138480 |
skin; ankle | malignant_melanoma; acral_lentiginous | Substitution - Missense |
c.4210C>T; p.H1404Y; 8:68146331-68146331 |
NS | malignant_melanoma | Substitution - Missense |
c.2404G>A; p.D802N; 8:68097052-68097052 |
skin | malignant_melanoma | Substitution - Missense |
c.4210C>T; p.H1404Y; 8:68146331-68146331 |
NS | malignant_melanoma | Substitution - Missense |
c.883C>T; p.L295F; 8:68044530-68044530 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2238G>A; p.R746R; 8:68090703-68090703 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2404G>A; p.D802N; 8:68097052-68097052 |
skin | malignant_melanoma | Substitution - Missense |
c.4210C>T; p.H1404Y; 8:68146331-68146331 |
skin | malignant_melanoma | Substitution - Missense |
c.4210C>T; p.H1404Y; 8:68146331-68146331 |
skin | malignant_melanoma | Substitution - Missense |
c.4210C>T; p.H1404Y; 8:68146331-68146331 |
skin | malignant_melanoma | Substitution - Missense |
c.1956G>A; p.V652V; 8:68083317-68083317 |
NS | malignant_melanoma | Substitution - coding silent |
c.2894G>C; p.R965T; 8:68108287-68108287 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2323delC; p.P776fs*13; 8:68093677-68093677 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.180A>C; p.K60N; 8:68017884-68017884 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4423C>T; p.P1475S; 8:68192344-68192344 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1685G>A; p.R562H; 8:68080485-68080485 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4321G>T; p.V1441F; 8:68157411-68157411 |
NS | malignant_melanoma | Substitution - Missense |
c.4463C>T; p.S1488L; 8:68192384-68192384 |
central_nervous_system; brainstem | glioma; oligoastrocytoma_Grade_III | Substitution - Missense |
c.2931G>A; p.S977S; 8:68108324-68108324 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2251C>T; p.Q751*; 8:68093605-68093605 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Nonsense |
c.139T>G; p.S47A; 8:67952533-67952533 |
stomach | adenocarcinoma | Substitution - Missense |
c.2716delT; p.S907fs*4; 8:68108109-68108109 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.875A>G; p.H292R; 8:68044522-68044522 |
liver | carcinoma | Substitution - Missense |
c.875A>G; p.H292R; 8:68044522-68044522 |
liver | carcinoma | Substitution - Missense |
c.4396G>C; p.A1466P; 8:68191771-68191771 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.468G>A; p.K156K; 8:68027248-68027248 |
skin; shoulder | malignant_melanoma; nodular | Substitution - coding silent |