| Gene ID | 4035 |
| Symbol | LRP1 |
| Synonymous | A2MR|APOER|APR|CD91|IGFBP3R|LRP|LRP1A|TGFBR5 |
| Full name | low density lipoprotein receptor-related protein 1 |
| Gene description | LRP-1|TbetaR-V/LRP-1/IGFBP-3 receptor|alpha-2-macroglobulin receptor|apolipoprotein E receptor|prolow-density lipoprotein receptor-related protein 1|type V tgf-beta receptor |
| Cytoband | 12q13.3 |
| Gene type | protein-coding |
| Synonymous | MIM:107770; HGNC:HGNC:6692; Ensembl:ENSG00000123384; HPRD:00138; Vega:OTTHUMG00000044412 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.7868G>T; p.R2623L; 12:57193962-57193962 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.7694G>T; p.R2565L; 12:57193575-57193575 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.7369C>T; p.R2457C; 12:57191452-57191452 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4889A>G; p.Y1630C; 12:57179479-57179479 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.5419G>A; p.E1807K; 12:57180699-57180699 |
breast | carcinoma | Substitution - Missense |
c.7242C>T; p.I2414I; 12:57191325-57191325 |
skin | malignant_melanoma | Substitution - coding silent |
c.7369C>T; p.R2457C; 12:57191452-57191452 |
kidney | other; neoplasm | Substitution - Missense |
c.9577G>A; p.G3193S; 12:57198571-57198571 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.10458C>T; p.P3486P; 12:57201609-57201609 |
breast | carcinoma | Substitution - coding silent |
c.10572G>A; p.S3524S; 12:57201883-57201883 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.8066C>A; p.P2689Q; 12:57194501-57194501 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2161G>A; p.D721N; 12:57161074-57161074 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.7447C>T; p.R2483*; 12:57192862-57192862 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.10829delC; p.R3612fs*171; 12:57203399-57203399 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.4300G>A; p.G1434S; 12:57177530-57177530 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.8574C>T; p.C2858C; 12:57195876-57195876 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.8574C>T; p.C2858C; 12:57195876-57195876 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.8574C>T; p.C2858C; 12:57195876-57195876 |
thyroid | other; neoplasm | Substitution - coding silent |
c.8574C>T; p.C2858C; 12:57195876-57195876 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.5638C>T; p.R1880W; 12:57181267-57181267 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.6746C>T; p.P2249L; 12:57185813-57185813 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1851C>T; p.Y617Y; 12:57159877-57159877 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.6746C>T; p.P2249L; 12:57185813-57185813 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.10639C>T; p.R3547C; 12:57202465-57202465 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.6421C>T; p.Q2141*; 12:57185163-57185163 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.3468C>T; p.T1156T; 12:57173901-57173901 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4863C>G; p.D1621E; 12:57179453-57179453 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4390G>A; p.D1464N; 12:57178387-57178387 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable | Substitution - Missense |
c.12084G>A; p.T4028T; 12:57208756-57208756 |
pancreas | carcinoma | Substitution - coding silent |
c.5451C>T; p.G1817G; 12:57180731-57180731 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.12084G>A; p.T4028T; 12:57208756-57208756 |
pancreas | carcinoma | Substitution - coding silent |
c.8002G>T; p.A2668S; 12:57194437-57194437 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.12084G>A; p.T4028T; 12:57208756-57208756 |
pancreas | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.12613T>C; p.F4205L; 12:57210339-57210339 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.12288C>T; p.D4096D; 12:57209717-57209717 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.428C>T; p.A143V; 12:57143778-57143778 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.10080G>T; p.G3360G; 12:57200507-57200507 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.10588G>T; p.E3530*; 12:57201899-57201899 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.10234G>A; p.V3412I; 12:57201042-57201042 |
oesophagus | carcinoma | Substitution - Missense |
c.11489G>A; p.R3830H; 12:57205576-57205576 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.7757A>G; p.N2586S; 12:57193638-57193638 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1033A>G; p.I345V; 12:57154507-57154507 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.10651G>A; p.G3551S; 12:57202477-57202477 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4843G>A; p.D1615N; 12:57179433-57179433 |
breast | carcinoma | Substitution - Missense |
c.349C>T; p.R117C; 12:57143699-57143699 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.7759G>A; p.G2587R; 12:57193640-57193640 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.10201G>T; p.D3401Y; 12:57200791-57200791 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5518A>T; p.I1840F; 12:57180798-57180798 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5251T>C; p.F1751L; 12:57180344-57180344 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.905A>T; p.D302V; 12:57154271-57154271 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.11534A>G; p.H3845R; 12:57205621-57205621 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.4145T>C; p.L1382P; 12:57177194-57177194 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1525G>A; p.G509S; 12:57156884-57156884 |
NS | malignant_melanoma | Substitution - Missense |
c.9099C>T; p.F3033F; 12:57197321-57197321 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma | Substitution - coding silent |
c.1525G>A; p.G509S; 12:57156884-57156884 |
NS | malignant_melanoma | Substitution - Missense |
c.9099C>T; p.F3033F; 12:57197321-57197321 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - coding silent |
c.4935C>T; p.N1645N; 12:57179525-57179525 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.4935C>T; p.N1645N; 12:57179525-57179525 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3794A>C; p.D1265A; 12:57175909-57175909 |
thyroid | other; neoplasm | Substitution - Missense |
c.11774C>T; p.S3925F; 12:57206656-57206656 |
skin | malignant_melanoma | Substitution - Missense |
c.7254G>A; p.E2418E; 12:57191337-57191337 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.11774C>T; p.S3925F; 12:57206656-57206656 |
skin | malignant_melanoma | Substitution - Missense |
c.5125G>T; p.V1709F; 12:57179940-57179940 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4144C>A; p.L1382M; 12:57177193-57177193 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.6570C>T; p.D2190D; 12:57185637-57185637 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3241C>T; p.R1081C; 12:57173245-57173245 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.6625C>G; p.L2209V; 12:57185692-57185692 |
breast | carcinoma | Substitution - Missense |
c.10808G>A; p.G3603D; 12:57203277-57203277 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3943G>T; p.D1315Y; 12:57176058-57176058 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4901T>C; p.V1634A; 12:57179491-57179491 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.6524G>A; p.R2175H; 12:57185591-57185591 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.11569C>T; p.H3857Y; 12:57205656-57205656 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.11569C>T; p.H3857Y; 12:57205656-57205656 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.6524G>A; p.R2175H; 12:57185591-57185591 |
skin | malignant_melanoma | Substitution - Missense |
c.12341A>G; p.K4114R; 12:57209770-57209770 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.161C>T; p.P54L; 12:57138552-57138552 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1267C>G; p.L423V; 12:57156133-57156133 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2931C>T; p.F977F; 12:57167460-57167460 |
skin | malignant_melanoma | Substitution - coding silent |
c.12789G>T; p.T4263T; 12:57210752-57210752 |
thyroid | other; neoplasm | Substitution - coding silent |
c.10317C>T; p.C3439C; 12:57201125-57201125 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.5824G>T; p.G1942C; 12:57183804-57183804 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.7485C>T; p.L2495L; 12:57192900-57192900 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1817G>A; p.G606D; 12:57159843-57159843 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.9009T>A; p.Y3003*; 12:57197098-57197098 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.11908G>A; p.G3970R; 12:57208086-57208086 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.11908G>A; p.G3970R; 12:57208086-57208086 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.9409A>G; p.T3137A; 12:57198282-57198282 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3322G>A; p.V1108I; 12:57173326-57173326 |
pancreas | carcinoma | Substitution - Missense |
c.10345+1G>A; p.?; 12:57201154-57201154 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.6261C>T; p.R2087R; 12:57184913-57184913 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - coding silent |
c.13495-1G>T; p.?; 12:57212414-57212414 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.2996A>G; p.D999G; 12:57169140-57169140 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.12288C>A; p.D4096E; 12:57209717-57209717 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3492G>T; p.K1164N; 12:57173925-57173925 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2194G>T; p.D732Y; 12:57161107-57161107 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.8794G>A; p.D2932N; 12:57196179-57196179 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3464A>T; p.N1155I; 12:57173897-57173897 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.8834T>A; p.L2945H; 12:57196219-57196219 |
breast | carcinoma | Substitution - Missense |
c.779G>A; p.R260H; 12:57145428-57145428 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.779G>A; p.R260H; 12:57145428-57145428 |
skin | malignant_melanoma | Substitution - Missense |
c.4283G>C; p.R1428P; 12:57177513-57177513 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.11652C>G; p.G3884G; 12:57206534-57206534 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.636G>T; p.T212T; 12:57145285-57145285 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2509G>A; p.A837T; 12:57162962-57162962 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3214G>A; p.D1072N; 12:57173218-57173218 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.6613G>A; p.E2205K; 12:57185680-57185680 |
skin | malignant_melanoma | Substitution - Missense |
c.1688C>T; p.A563V; 12:57158528-57158528 |
skin | malignant_melanoma | Substitution - Missense |
c.1068G>T; p.Q356H; 12:57154542-57154542 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.7694G>A; p.R2565H; 12:57193575-57193575 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.7694G>A; p.R2565H; 12:57193575-57193575 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.8141C>T; p.T2714M; 12:57194649-57194649 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.10195T>C; p.C3399R; 12:57200785-57200785 |
breast | carcinoma | Substitution - Missense |
c.12003C>T; p.D4001D; 12:57208181-57208181 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2858_2859GG>TT; p.W953F; 12:57166990-57166991 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.5173A>T; p.S1725C; 12:57180078-57180078 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.10688A>G; p.D3563G; 12:57202514-57202514 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4899C>T; p.D1633D; 12:57179489-57179489 |
breast | carcinoma | Substitution - coding silent |
c.11656C>T; p.P3886S; 12:57206538-57206538 |
skin | malignant_melanoma | Substitution - Missense |
c.3729C>T; p.S1243S; 12:57175641-57175641 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.3691C>A; p.L1231I; 12:57175603-57175603 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.10665C>T; p.C3555C; 12:57202491-57202491 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.167G>T; p.G56V; 12:57138558-57138558 |
prostate | carcinoma | Substitution - Missense |
c.9515G>C; p.R3172P; 12:57198509-57198509 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.9578G>C; p.G3193A; 12:57198572-57198572 |
pancreas | carcinoid-endocrine_tumour | Substitution - Missense |
c.4675C>T; p.R1559W; 12:57178958-57178958 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.7984_7998del15; p.R2662_C2666delRTSLC; 12:57194419-57194433 |
pleura | pulmonary_blastoma | Deletion - In frame |
c.12599G>A; p.C4200Y; 12:57210325-57210325 |
liver | carcinoma | Substitution - Missense |
c.862G>A; p.D288N; 12:57154228-57154228 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.8333C>T; p.S2778F; 12:57195295-57195295 |
skin | malignant_melanoma | Substitution - Missense |
c.862G>A; p.D288N; 12:57154228-57154228 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1034T>C; p.I345T; 12:57154508-57154508 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.12599G>A; p.C4200Y; 12:57210325-57210325 |
liver | carcinoma | Substitution - Missense |
c.12575_12576insC; p.D4193fs*9; 12:57210164-57210165 |
central_nervous_system; medulla | primitive_neuroectodermal_tumour-medulloblastoma; classic | Insertion - Frameshift |
c.7A>C; p.T3P; 12:57128971-57128971 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.9050A>T; p.D3017V; 12:57197139-57197139 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.7A>C; p.T3P; 12:57128971-57128971 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.7A>C; p.T3P; 12:57128971-57128971 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.7A>C; p.T3P; 12:57128971-57128971 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.7A>C; p.T3P; 12:57128971-57128971 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4957G>A; p.V1653I; 12:57179547-57179547 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1701C>T; p.H567H; 12:57158541-57158541 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.145G>A; p.G49S; 12:57138536-57138536 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.7A>C; p.T3P; 12:57128971-57128971 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.11775C>T; p.S3925S; 12:57206657-57206657 |
skin | malignant_melanoma | Substitution - coding silent |
c.5348G>A; p.R1783Q; 12:57180441-57180441 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.11257C>T; p.R3753C; 12:57205171-57205171 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.7A>C; p.T3P; 12:57128971-57128971 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.7A>C; p.T3P; 12:57128971-57128971 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3073G>T; p.G1025W; 12:57169217-57169217 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.7A>C; p.T3P; 12:57128971-57128971 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.7A>C; p.T3P; 12:57128971-57128971 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.7A>C; p.T3P; 12:57128971-57128971 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.7A>C; p.T3P; 12:57128971-57128971 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.683G>A; p.R228Q; 12:57145332-57145332 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.8218G>C; p.E2740Q; 12:57195011-57195011 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.841+1G>A; p.?; 12:57145491-57145491 |
stomach | carcinoma; intestinal_adenocarcinoma | Unknown |
c.802G>A; p.V268M; 12:57145451-57145451 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.10225+9_10225+10insT; p.?; 12:57200824-57200825 |
thyroid | carcinoma; anaplastic_carcinoma | Unknown |
c.1202G>A; p.R401H; 12:57154676-57154676 |
breast | carcinoma | Substitution - Missense |
c.3824_3825insC; p.R1276fs*3; 12:57175939-57175940 |
skin | malignant_melanoma | Insertion - Frameshift |
c.8142G>A; p.T2714T; 12:57194650-57194650 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.7689C>T; p.S2563S; 12:57193570-57193570 |
thyroid | other; neoplasm | Substitution - coding silent |
c.13132G>T; p.V4378F; 12:57211527-57211527 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.10714C>T; p.P3572S; 12:57203183-57203183 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6768C>T; p.F2256F; 12:57185835-57185835 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2605G>A; p.E869K; 12:57165879-57165879 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.267C>T; p.S89S; 12:57141450-57141450 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2605G>A; p.E869K; 12:57165879-57165879 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.9748G>T; p.E3250*; 12:57199283-57199283 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.9996C>G; p.S3332S; 12:57200007-57200007 |
pancreas | carcinoma | Substitution - coding silent |
c.5668G>A; p.G1890S; 12:57183384-57183384 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.8482C>T; p.R2828C; 12:57195702-57195702 |
liver | carcinoma | Substitution - Missense |
c.3708G>T; p.K1236N; 12:57175620-57175620 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.10335G>A; p.E3445E; 12:57201143-57201143 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.11671G>A; p.E3891K; 12:57206553-57206553 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.8482C>T; p.R2828C; 12:57195702-57195702 |
liver | carcinoma | Substitution - Missense |
c.226G>A; p.E76K; 12:57141409-57141409 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1545C>T; p.D515D; 12:57156904-57156904 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.448+9G>T; p.?; 12:57143807-57143807 |
pancreas | carcinoma | Unknown |
c.12761C>T; p.P4254L; 12:57210724-57210724 |
skin | malignant_melanoma | Substitution - Missense |
c.1565C>T; p.P522L; 12:57158405-57158405 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2706C>G; p.C902W; 12:57166118-57166118 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.9807C>G; p.I3269M; 12:57199342-57199342 |
meninges | meningioma; haemangiopericytic | Substitution - Missense |
c.5004C>T; p.V1668V; 12:57179819-57179819 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.529G>A; p.E177K; 12:57145052-57145052 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.10828delA; p.T3610fs*173; 12:57203398-57203398 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.11587G>A; p.E3863K; 12:57205674-57205674 |
breast | carcinoma | Substitution - Missense |
c.6795C>T; p.I2265I; 12:57185862-57185862 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.6074C>T; p.T2025I; 12:57184340-57184340 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6107C>A; p.S2036Y; 12:57184373-57184373 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6695A>G; p.H2232R; 12:57185762-57185762 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.9280C>T; p.Q3094*; 12:57197662-57197662 |
breast | carcinoma | Substitution - Nonsense |
c.10792C>A; p.H3598N; 12:57203261-57203261 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.8069G>A; p.G2690D; 12:57194577-57194577 |
skin | malignant_melanoma | Substitution - Missense |
c.1955C>T; p.A652V; 12:57159981-57159981 |
skin | malignant_melanoma | Substitution - Missense |
c.13525A>C; p.T4509P; 12:57212445-57212445 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.5996G>A; p.R1999H; 12:57184151-57184151 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.5996G>A; p.R1999H; 12:57184151-57184151 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.723C>T; p.T241T; 12:57145372-57145372 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.6490G>C; p.G2164R; 12:57185557-57185557 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.8327C>T; p.P2776L; 12:57195289-57195289 |
breast | carcinoma | Substitution - Missense |
c.6740C>T; p.T2247I; 12:57185807-57185807 |
skin | malignant_melanoma | Substitution - Missense |
c.425delA; p.Q142fs*54; 12:57143775-57143775 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.3093C>G; p.H1031Q; 12:57169237-57169237 |
thyroid | carcinoma | Substitution - Missense |
c.5556C>T; p.V1852V; 12:57181185-57181185 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.8910C>T; p.G2970G; 12:57196999-57196999 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3772G>A; p.G1258S; 12:57175684-57175684 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4719G>A; p.K1573K; 12:57179002-57179002 |
liver | carcinoma | Substitution - coding silent |
c.8302C>T; p.H2768Y; 12:57195095-57195095 |
skin | malignant_melanoma | Substitution - Missense |
c.1415G>A; p.R472Q; 12:57156281-57156281 |
ovary | other; neoplasm | Substitution - Missense |
c.8810G>A; p.R2937H; 12:57196195-57196195 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3171G>A; p.R1057R; 12:57173175-57173175 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.4719G>A; p.K1573K; 12:57179002-57179002 |
liver | carcinoma | Substitution - coding silent |
c.8302C>T; p.H2768Y; 12:57195095-57195095 |
skin | malignant_melanoma | Substitution - Missense |
c.10058G>C; p.C3353S; 12:57200485-57200485 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.6122C>T; p.T2041M; 12:57184388-57184388 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.11218C>T; p.H3740Y; 12:57205132-57205132 |
skin | malignant_melanoma | Substitution - Missense |
c.4142T>G; p.L1381R; 12:57177191-57177191 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2667C>T; p.L889L; 12:57165941-57165941 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2856C>T; p.S952S; 12:57166988-57166988 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - coding silent |
c.6975C>T; p.V2325V; 12:57187400-57187400 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.6975C>T; p.V2325V; 12:57187400-57187400 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.3365C>T; p.A1122V; 12:57173798-57173798 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.7648T>C; p.C2550R; 12:57193268-57193268 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.703T>C; p.F235L; 12:57145352-57145352 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5242G>T; p.A1748S; 12:57180335-57180335 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.3365C>T; p.A1122V; 12:57173798-57173798 |
pancreas | carcinoma | Substitution - Missense |
c.5242G>T; p.A1748S; 12:57180335-57180335 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.7838G>A; p.R2613Q; 12:57193932-57193932 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1390A>G; p.I464V; 12:57156256-57156256 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3841C>T; p.R1281C; 12:57175956-57175956 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1134C>T; p.S378S; 12:57154608-57154608 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.4269C>A; p.R1423R; 12:57177499-57177499 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3841C>T; p.R1281C; 12:57175956-57175956 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1134C>T; p.S378S; 12:57154608-57154608 |
liver | carcinoma | Substitution - coding silent |
c.2358G>C; p.R786R; 12:57162472-57162472 |
breast | carcinoma | Substitution - coding silent |
c.6366C>T; p.R2122R; 12:57185108-57185108 |
skin | malignant_melanoma | Substitution - coding silent |
c.1392C>G; p.I464M; 12:57156258-57156258 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.13315G>A; p.G4439R; 12:57211983-57211983 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.8620C>A; p.R2874S; 12:57195922-57195922 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.13037G>A; p.R4346H; 12:57211296-57211296 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.6366C>T; p.R2122R; 12:57185108-57185108 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.11799G>A; p.A3933A; 12:57206681-57206681 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.7688C>T; p.S2563F; 12:57193569-57193569 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.11538C>T; p.L3846L; 12:57205625-57205625 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.10065C>T; p.T3355T; 12:57200492-57200492 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.13315G>A; p.G4439R; 12:57211983-57211983 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.11538C>T; p.L3846L; 12:57205625-57205625 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.11428C>T; p.R3810C; 12:57205443-57205443 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.11025C>T; p.G3675G; 12:57204483-57204483 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.2995+6A>T; p.?; 12:57167530-57167530 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.10623C>T; p.F3541F; 12:57202449-57202449 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.9357C>A; p.C3119*; 12:57198230-57198230 |
prostate | carcinoma | Substitution - Nonsense |
c.2482G>A; p.A828T; 12:57162935-57162935 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2482G>A; p.A828T; 12:57162935-57162935 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.8746C>T; p.R2916C; 12:57196131-57196131 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.9544G>A; p.V3182I; 12:57198538-57198538 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.11779C>A; p.R3927S; 12:57206661-57206661 |
NS | malignant_melanoma | Substitution - Missense |
c.4104C>T; p.I1368I; 12:57177153-57177153 |
skin | malignant_melanoma | Substitution - coding silent |
c.4469A>G; p.E1490G; 12:57178466-57178466 |
thyroid | carcinoma | Substitution - Missense |
c.3076C>T; p.R1026C; 12:57169220-57169220 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3076C>T; p.R1026C; 12:57169220-57169220 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.13436G>A; p.G4479E; 12:57212203-57212203 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.7775G>T; p.G2592V; 12:57193656-57193656 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1531A>G; p.S511G; 12:57156890-57156890 |
skin | malignant_melanoma | Substitution - Missense |
c.9539G>A; p.R3180H; 12:57198533-57198533 |
pancreas | carcinoma | Substitution - Missense |
c.13007G>T; p.G4336V; 12:57211266-57211266 |
pancreas | carcinoma | Substitution - Missense |
c.7012G>A; p.V2338I; 12:57187437-57187437 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.9539G>A; p.R3180H; 12:57198533-57198533 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.7624C>G; p.L2542V; 12:57193244-57193244 |
breast | carcinoma | Substitution - Missense |
c.4213_4216delGACT; p.D1405fs*13; 12:57177443-57177446 |
central_nervous_system; spinal_cord | glioma; ependymoma | Deletion - Frameshift |
c.5460C>T; p.S1820S; 12:57180740-57180740 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3648C>G; p.P1216P; 12:57175560-57175560 |
ovary | other; neoplasm | Substitution - coding silent |
c.2156T>C; p.F719S; 12:57161069-57161069 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.4543G>T; p.V1515L; 12:57178540-57178540 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1221C>T; p.G407G; 12:57154695-57154695 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.3648C>G; p.P1216P; 12:57175560-57175560 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.6745C>T; p.P2249S; 12:57185812-57185812 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.9982C>T; p.R3328C; 12:57199993-57199993 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3648C>G; p.P1216P; 12:57175560-57175560 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3648C>G; p.P1216P; 12:57175560-57175560 |
breast | carcinoma | Substitution - coding silent |
c.3648C>G; p.P1216P; 12:57175560-57175560 |
ovary | other; neoplasm | Substitution - coding silent |
c.6772A>G; p.S2258G; 12:57185839-57185839 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4543G>T; p.V1515L; 12:57178540-57178540 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.9905G>A; p.S3302N; 12:57199916-57199916 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.10341C>T; p.D3447D; 12:57201149-57201149 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.10783G>A; p.D3595N; 12:57203252-57203252 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.9923C>T; p.S3308F; 12:57199934-57199934 |
skin | malignant_melanoma | Substitution - Missense |
c.3162delG; p.A1055fs*46; 12:57169306-57169306 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Deletion - Frameshift |
c.2378G>A; p.R793Q; 12:57162492-57162492 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2378G>A; p.R793Q; 12:57162492-57162492 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.7404C>T; p.I2468I; 12:57191487-57191487 |
skin | malignant_melanoma | Substitution - coding silent |
c.2965T>C; p.C989R; 12:57167494-57167494 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.10924A>T; p.S3642C; 12:57203494-57203494 |
breast | carcinoma | Substitution - Missense |
c.1021G>C; p.D341H; 12:57154495-57154495 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.12286G>A; p.D4096N; 12:57209715-57209715 |
skin | malignant_melanoma | Substitution - Missense |
c.2526C>T; p.C842C; 12:57162979-57162979 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3523G>A; p.G1175S; 12:57173956-57173956 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3546C>T; p.C1182C; 12:57173979-57173979 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4060A>C; p.I1354L; 12:57177109-57177109 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.6617G>A; p.R2206H; 12:57185684-57185684 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5997C>A; p.R1999R; 12:57184152-57184152 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3546C>T; p.C1182C; 12:57173979-57173979 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.9711G>A; p.L3237L; 12:57199246-57199246 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.5603C>T; p.T1868I; 12:57181232-57181232 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3546C>T; p.C1182C; 12:57173979-57173979 |
thyroid | other; neoplasm | Substitution - coding silent |
c.9783G>A; p.T3261T; 12:57199318-57199318 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.2717G>A; p.R906Q; 12:57166129-57166129 |
thyroid | carcinoma | Substitution - Missense |
c.6639C>T; p.H2213H; 12:57185706-57185706 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4143G>C; p.L1381L; 12:57177192-57177192 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.4357G>A; p.A1453T; 12:57177587-57177587 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.10678G>A; p.D3560N; 12:57202504-57202504 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.5664C>T; p.G1888G; 12:57183380-57183380 |
skin | malignant_melanoma | Substitution - coding silent |
c.10360G>A; p.A3454T; 12:57201511-57201511 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.12546C>T; p.C4182C; 12:57210135-57210135 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.8154G>A; p.E2718E; 12:57194662-57194662 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.10775G>A; p.W3592*; 12:57203244-57203244 |
skin | malignant_melanoma | Substitution - Nonsense |
c.2175G>A; p.T725T; 12:57161088-57161088 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3144C>T; p.H1048H; 12:57169288-57169288 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2734T>C; p.W912R; 12:57166146-57166146 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.11964G>T; p.K3988N; 12:57208142-57208142 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.12755-1G>T; p.?; 12:57210717-57210717 |
lung | carcinoma; adenocarcinoma | Unknown |
c.4462delG; p.E1490fs*80; 12:57178459-57178459 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.8925C>T; p.D2975D; 12:57197014-57197014 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.11794G>A; p.A3932T; 12:57206676-57206676 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6397C>G; p.P2133A; 12:57185139-57185139 |
bone | osteosarcoma | Substitution - Missense |
c.4462delG; p.E1490fs*80; 12:57178459-57178459 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.8925C>T; p.D2975D; 12:57197014-57197014 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4462delG; p.E1490fs*80; 12:57178459-57178459 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.7255C>T; p.P2419S; 12:57191338-57191338 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.10273C>T; p.R3425C; 12:57201081-57201081 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4623G>C; p.E1541D; 12:57178906-57178906 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3519C>T; p.G1173G; 12:57173952-57173952 |
large_intestine; colon | adenoma | Substitution - coding silent |
c.11488C>T; p.R3830C; 12:57205575-57205575 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.11798C>T; p.A3933V; 12:57206680-57206680 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.9040C>T; p.R3014C; 12:57197129-57197129 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.7452C>G; p.I2484M; 12:57192867-57192867 |
ovary | other; neoplasm | Substitution - Missense |
c.13182G>A; p.M4394I; 12:57211577-57211577 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.6719C>T; p.A2240V; 12:57185786-57185786 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.13136G>A; p.G4379D; 12:57211531-57211531 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4039G>A; p.E1347K; 12:57177088-57177088 |
skin | malignant_melanoma | Substitution - Missense |
c.8566C>T; p.P2856S; 12:57195868-57195868 |
skin; head_neck | malignant_melanoma; superficial_spreading | Substitution - Missense |
c.6961G>A; p.E2321K; 12:57187386-57187386 |
thyroid | carcinoma | Substitution - Missense |
c.10491C>T; p.D3497D; 12:57201802-57201802 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1722C>A; p.Y574*; 12:57158562-57158562 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.3901G>A; p.A1301T; 12:57176016-57176016 |
skin | malignant_melanoma | Substitution - Missense |
c.4039G>A; p.E1347K; 12:57177088-57177088 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.10318G>A; p.G3440R; 12:57201126-57201126 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.8458G>T; p.D2820Y; 12:57195678-57195678 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6583C>T; p.R2195C; 12:57185650-57185650 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.900C>T; p.I300I; 12:57154266-57154266 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.8021A>G; p.D2674G; 12:57194456-57194456 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.7164C>T; p.A2388A; 12:57190937-57190937 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2571C>T; p.G857G; 12:57165845-57165845 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.6965G>A; p.R2322H; 12:57187390-57187390 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4842C>T; p.I1614I; 12:57179432-57179432 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.13528C>T; p.L4510F; 12:57212448-57212448 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.9396_9397insG; p.A3134fs*13; 12:57198269-57198270 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.923A>G; p.N308S; 12:57154289-57154289 |
thyroid | other; neoplasm | Substitution - Missense |
c.4837G>A; p.D1613N; 12:57179427-57179427 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.10511C>T; p.S3504L; 12:57201822-57201822 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.12568delC; p.P4192fs*150; 12:57210157-57210157 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.12568delC; p.P4192fs*150; 12:57210157-57210157 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.12568delC; p.P4192fs*150; 12:57210157-57210157 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.12568delC; p.P4192fs*150; 12:57210157-57210157 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.4956C>T; p.V1652V; 12:57179546-57179546 |
skin | malignant_melanoma | Substitution - coding silent |
c.12568delC; p.P4192fs*150; 12:57210157-57210157 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.12568delC; p.P4192fs*150; 12:57210157-57210157 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.11143C>A; p.Q3715K; 12:57204698-57204698 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.12400T>C; p.S4134P; 12:57209829-57209829 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.12527G>A; p.R4176Q; 12:57210116-57210116 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.12070C>T; p.P4024S; 12:57208742-57208742 |
skin | malignant_melanoma | Substitution - Missense |
c.7353C>T; p.S2451S; 12:57191436-57191436 |
pancreas | carcinoma | Substitution - coding silent |
c.12527G>A; p.R4176Q; 12:57210116-57210116 |
pancreas | carcinoid-endocrine_tumour; islet_cell | Substitution - Missense |
c.8997T>C; p.T2999T; 12:57197086-57197086 |
thyroid | other; neoplasm | Substitution - coding silent |
c.2032C>T; p.R678W; 12:57160945-57160945 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.607A>T; p.I203L; 12:57145256-57145256 |
kidney | other; neoplasm | Substitution - Missense |
c.4155C>T; p.D1385D; 12:57177204-57177204 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6126G>T; p.E2042D; 12:57184392-57184392 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.11194+1G>A; p.?; 12:57204750-57204750 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.3555C>T; p.C1185C; 12:57175467-57175467 |
bone; pelvis | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.8833C>G; p.L2945V; 12:57196218-57196218 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5874C>T; p.D1958D; 12:57183854-57183854 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.5111C>T; p.P1704L; 12:57179926-57179926 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.13272C>T; p.I4424I; 12:57211940-57211940 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.12154G>A; p.V4052M; 12:57209091-57209091 |
breast | carcinoma | Substitution - Missense |
c.5511C>T; p.D1837D; 12:57180791-57180791 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.8371C>T; p.R2791C; 12:57195333-57195333 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.13597C>T; p.R4533W; 12:57212517-57212517 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.7044G>A; p.W2348*; 12:57190817-57190817 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.1631G>A; p.G544E; 12:57158471-57158471 |
skin | malignant_melanoma | Substitution - Missense |
c.13597C>T; p.R4533W; 12:57212517-57212517 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.638A>G; p.Y213C; 12:57145287-57145287 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5326C>T; p.L1776L; 12:57180419-57180419 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3372G>T; p.V1124V; 12:57173805-57173805 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5284G>A; p.G1762R; 12:57180377-57180377 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5119C>G; p.L1707V; 12:57179934-57179934 |
breast | carcinoma | Substitution - Missense |
c.12984C>T; p.C4328C; 12:57211243-57211243 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.4723A>T; p.N1575Y; 12:57179006-57179006 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3621C>T; p.S1207S; 12:57175533-57175533 |
skin | malignant_melanoma | Substitution - coding silent |
c.12984C>T; p.C4328C; 12:57211243-57211243 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.8017T>C; p.C2673R; 12:57194452-57194452 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3933C>T; p.L1311L; 12:57176048-57176048 |
skin | malignant_melanoma | Substitution - coding silent |
c.4855G>T; p.V1619L; 12:57179445-57179445 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.10799G>T; p.C3600F; 12:57203268-57203268 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1855A>G; p.T619A; 12:57159881-57159881 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4356C>T; p.D1452D; 12:57177586-57177586 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.6655A>G; p.N2219D; 12:57185722-57185722 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.7452C>A; p.I2484I; 12:57192867-57192867 |
thyroid | other; neoplasm | Substitution - coding silent |
c.7641C>T; p.V2547V; 12:57193261-57193261 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.13348G>T; p.G4450W; 12:57212016-57212016 |
pancreas | carcinoma | Substitution - Missense |
c.4356C>T; p.D1452D; 12:57177586-57177586 |
oesophagus | carcinoma | Substitution - coding silent |
c.7677C>T; p.S2559S; 12:57193297-57193297 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.6168C>A; p.G2056G; 12:57184434-57184434 |
prostate | adenoma | Substitution - coding silent |
c.12889G>A; p.G4297S; 12:57210852-57210852 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4356C>T; p.D1452D; 12:57177586-57177586 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.10108+1G>A; p.?; 12:57200536-57200536 |
urinary_tract; bladder | carcinoma | Unknown |
c.142G>A; p.D48N; 12:57138533-57138533 |
breast | carcinoma | Substitution - Missense |
c.6861C>A; p.G2287G; 12:57187286-57187286 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6377A>G; p.D2126G; 12:57185119-57185119 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.5867G>A; p.R1956H; 12:57183847-57183847 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.6031C>T; p.R2011W; 12:57184186-57184186 |
prostate | carcinoma | Substitution - Missense |
c.4141C>G; p.L1381V; 12:57177190-57177190 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1428T>C; p.H476H; 12:57156787-57156787 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5867G>A; p.R1956H; 12:57183847-57183847 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.5867G>A; p.R1956H; 12:57183847-57183847 |
bone; tibia | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.2910G>A; p.S970S; 12:57167042-57167042 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.12567_12568insC; p.D4193fs*9; 12:57210156-57210157 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.10545C>T; p.D3515D; 12:57201856-57201856 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.12567_12568insC; p.D4193fs*9; 12:57210156-57210157 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.12583delC; p.R4196fs*146; 12:57210309-57210309 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6760C>T; p.R2254C; 12:57185827-57185827 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.12567_12568insC; p.D4193fs*9; 12:57210156-57210157 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.12567_12568insC; p.D4193fs*9; 12:57210156-57210157 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.12567_12568insC; p.D4193fs*9; 12:57210156-57210157 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.12567_12568insC; p.D4193fs*9; 12:57210156-57210157 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.12567_12568insC; p.D4193fs*9; 12:57210156-57210157 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.12567_12568insC; p.D4193fs*9; 12:57210156-57210157 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.4437G>A; p.S1479S; 12:57178434-57178434 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.12567_12568insC; p.D4193fs*9; 12:57210156-57210157 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.12986G>A; p.R4329H; 12:57211245-57211245 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.166G>A; p.G56R; 12:57138557-57138557 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.12567_12568insC; p.D4193fs*9; 12:57210156-57210157 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1340G>A; p.S447N; 12:57156206-57156206 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.12567_12568insC; p.D4193fs*9; 12:57210156-57210157 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.12986G>A; p.R4329H; 12:57211245-57211245 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.7984C>G; p.R2662G; 12:57194419-57194419 |
liver | carcinoma | Substitution - Missense |
c.9823C>T; p.P3275S; 12:57199358-57199358 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.9499C>T; p.H3167Y; 12:57198493-57198493 |
skin | malignant_melanoma | Substitution - Missense |
c.10573G>T; p.D3525Y; 12:57201884-57201884 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.8679G>A; p.K2893K; 12:57195981-57195981 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.8936C>T; p.T2979M; 12:57197025-57197025 |
ovary | other; neoplasm | Substitution - Missense |
c.7984C>G; p.R2662G; 12:57194419-57194419 |
liver | carcinoma | Substitution - Missense |
c.3172C>A; p.P1058T; 12:57173176-57173176 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.6416G>A; p.G2139D; 12:57185158-57185158 |
breast | carcinoma | Substitution - Missense |
c.3172C>A; p.P1058T; 12:57173176-57173176 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.3172C>A; p.P1058T; 12:57173176-57173176 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.9601G>T; p.E3201*; 12:57198595-57198595 |
breast | carcinoma | Substitution - Nonsense |
c.3172C>A; p.P1058T; 12:57173176-57173176 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3172C>A; p.P1058T; 12:57173176-57173176 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.3172C>A; p.P1058T; 12:57173176-57173176 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.3172C>A; p.P1058T; 12:57173176-57173176 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.7863C>T; p.S2621S; 12:57193957-57193957 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.9003C>A; p.G3001G; 12:57197092-57197092 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6518G>A; p.R2173Q; 12:57185585-57185585 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.6796C>T; p.Q2266*; 12:57185863-57185863 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.8175G>T; p.E2725D; 12:57194683-57194683 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.11197C>T; p.P3733S; 12:57205111-57205111 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.7011C>T; p.F2337F; 12:57187436-57187436 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3057G>T; p.Q1019H; 12:57169201-57169201 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6755C>A; p.P2252H; 12:57185822-57185822 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.10926C>G; p.S3642R; 12:57203496-57203496 |
breast | carcinoma | Substitution - Missense |
c.1242C>T; p.Y414Y; 12:57156108-57156108 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.11217C>T; p.T3739T; 12:57205131-57205131 |
skin | malignant_melanoma | Substitution - coding silent |
c.7011C>T; p.F2337F; 12:57187436-57187436 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.8937G>A; p.T2979T; 12:57197026-57197026 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6682G>A; p.E2228K; 12:57185749-57185749 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3349C>T; p.R1117W; 12:57173782-57173782 |
breast | carcinoma | Substitution - Missense |
c.9081G>A; p.E3027E; 12:57197303-57197303 |
skin | malignant_melanoma | Substitution - coding silent |
c.7089C>G; p.L2363L; 12:57190862-57190862 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.9177C>T; p.A3059A; 12:57197559-57197559 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1779G>T; p.R593R; 12:57158619-57158619 |
breast | carcinoma | Substitution - coding silent |
c.6237C>T; p.I2079I; 12:57184889-57184889 |
skin | malignant_melanoma | Substitution - coding silent |
c.998C>T; p.A333V; 12:57154364-57154364 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4005C>T; p.F1335F; 12:57177054-57177054 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.11394C>T; p.C3798C; 12:57205409-57205409 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.4888T>C; p.Y1630H; 12:57179478-57179478 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.4005C>T; p.F1335F; 12:57177054-57177054 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.5888G>A; p.G1963D; 12:57183868-57183868 |
stomach | adenocarcinoma | Substitution - Missense |
c.6825G>A; p.R2275R; 12:57185892-57185892 |
bone; rib | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.7794C>T; p.I2598I; 12:57193675-57193675 |
skin | malignant_melanoma | Substitution - coding silent |
c.10742C>T; p.S3581F; 12:57203211-57203211 |
skin | malignant_melanoma | Substitution - Missense |
c.1012delT; p.F339fs*71; 12:57154486-57154486 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.10173C>T; p.F3391F; 12:57200763-57200763 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.4140C>T; p.T1380T; 12:57177189-57177189 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.5677C>G; p.L1893V; 12:57183393-57183393 |
breast | carcinoma | Substitution - Missense |
c.11079C>T; p.F3693F; 12:57204634-57204634 |
skin | malignant_melanoma | Substitution - coding silent |
c.11839C>T; p.R3947W; 12:57206721-57206721 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1909C>G; p.Q637E; 12:57159935-57159935 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2847delC; p.I951fs*29; 12:57166979-57166979 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6926G>A; p.R2309H; 12:57187351-57187351 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.2941C>G; p.Q981E; 12:57167470-57167470 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2684_2685insC; p.S897fs*23; 12:57166096-57166097 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1406G>A; p.R469H; 12:57156272-57156272 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.11663C>T; p.S3888L; 12:57206545-57206545 |
skin | malignant_melanoma | Substitution - Missense |
c.11663C>T; p.S3888L; 12:57206545-57206545 |
skin | malignant_melanoma | Substitution - Missense |
c.4564C>T; p.P1522S; 12:57178561-57178561 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.194C>T; p.P65L; 12:57141377-57141377 |
skin | malignant_melanoma | Substitution - Missense |
c.1523C>G; p.S508C; 12:57156882-57156882 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.12145G>A; p.G4049S; 12:57208817-57208817 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.2725C>T; p.P909S; 12:57166137-57166137 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.11529C>T; p.G3843G; 12:57205616-57205616 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.11529C>T; p.G3843G; 12:57205616-57205616 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4766G>T; p.R1589L; 12:57179356-57179356 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.11529C>T; p.G3843G; 12:57205616-57205616 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.8103C>T; p.F2701F; 12:57194611-57194611 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2774A>G; p.D925G; 12:57166186-57166186 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.7543C>T; p.L2515F; 12:57192958-57192958 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3960G>T; p.K1320N; 12:57176075-57176075 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2348G>A; p.R783H; 12:57162462-57162462 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.485A>C; p.Q162P; 12:57145008-57145008 |
thyroid | carcinoma; medullary_carcinoma | Substitution - Missense |
c.8103C>T; p.F2701F; 12:57194611-57194611 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.12458G>A; p.R4153H; 12:57210047-57210047 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.8119C>T; p.R2707C; 12:57194627-57194627 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.12458G>A; p.R4153H; 12:57210047-57210047 |
oesophagus | carcinoma | Substitution - Missense |
c.4006G>A; p.E1336K; 12:57177055-57177055 |
skin | malignant_melanoma | Substitution - Missense |
c.186G>T; p.E62D; 12:57138577-57138577 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.9831C>T; p.D3277D; 12:57199366-57199366 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.11548G>A; p.A3850T; 12:57205635-57205635 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2073C>A; p.I691I; 12:57160986-57160986 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.6681C>T; p.F2227F; 12:57185748-57185748 |
skin | malignant_melanoma | Substitution - coding silent |
c.13373G>A; p.R4458Q; 12:57212140-57212140 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.7764C>T; p.A2588A; 12:57193645-57193645 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.2359delC; p.I789fs*21; 12:57162473-57162473 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.7989C>A; p.T2663T; 12:57194424-57194424 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.10512G>A; p.S3504S; 12:57201823-57201823 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1964T>C; p.V655A; 12:57159990-57159990 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1560_1561+2delGAGT; p.?; 12:57156919-57156922 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.12885A>T; p.L4295L; 12:57210848-57210848 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3126C>T; p.D1042D; 12:57169270-57169270 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3126C>T; p.D1042D; 12:57169270-57169270 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.448+2T>G; p.?; 12:57143800-57143800 |
liver | carcinoma | Unknown |
c.12405C>T; p.D4135D; 12:57209834-57209834 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.2373G>T; p.E791D; 12:57162487-57162487 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5995C>T; p.R1999C; 12:57184150-57184150 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.844G>A; p.V282M; 12:57154210-57154210 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.844G>A; p.V282M; 12:57154210-57154210 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.5052C>A; p.I1684I; 12:57179867-57179867 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.5751A>C; p.P1917P; 12:57183467-57183467 |
liver | carcinoma | Substitution - coding silent |
c.5995C>T; p.R1999C; 12:57184150-57184150 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844G>A; p.V282M; 12:57154210-57154210 |
haematopoietic_and_lymphoid_tissue; central_nervous_system | lymphoid_neoplasm; primary_central_nervous_system_lymphoma | Substitution - Missense |
c.5751A>C; p.P1917P; 12:57183467-57183467 |
liver | carcinoma | Substitution - coding silent |
c.10977C>T; p.F3659F; 12:57204435-57204435 |
skin | malignant_melanoma | Substitution - coding silent |
c.3644G>A; p.G1215E; 12:57175556-57175556 |
liver | carcinoma | Substitution - Missense |
c.5210T>G; p.L1737R; 12:57180115-57180115 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.12464A>T; p.K4155I; 12:57210053-57210053 |
kidney | other; neoplasm | Substitution - Missense |
c.9433C>T; p.R3145C; 12:57198306-57198306 |
large_intestine; colon | NS | Substitution - Missense |
c.11567C>T; p.T3856M; 12:57205654-57205654 |
breast | carcinoma | Substitution - Missense |
c.3485_3486insC; p.D1163fs*1; 12:57173918-57173919 |
large_intestine; colon | carcinoma | Insertion - Frameshift |
c.9854G>A; p.R3285H; 12:57199389-57199389 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.11542A>T; p.S3848C; 12:57205629-57205629 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.10428C>A; p.D3476E; 12:57201579-57201579 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.10444G>A; p.G3482S; 12:57201595-57201595 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.12346C>T; p.H4116Y; 12:57209775-57209775 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.7349G>A; p.G2450D; 12:57191432-57191432 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.8128C>T; p.P2710S; 12:57194636-57194636 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.8474_8475GC>TG; p.C2825L; 12:57195694-57195695 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.10906G>A; p.A3636T; 12:57203476-57203476 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.257T>C; p.V86A; 12:57141440-57141440 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.10971C>T; p.D3657D; 12:57204429-57204429 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.6094C>T; p.R2032C; 12:57184360-57184360 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.137G>A; p.R46Q; 12:57138528-57138528 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4505C>A; p.A1502D; 12:57178502-57178502 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.137G>A; p.R46Q; 12:57138528-57138528 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2807_2808insC; p.N939fs*18; 12:57166939-57166940 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.3294G>T; p.E1098D; 12:57173298-57173298 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.10172T>C; p.F3391S; 12:57200762-57200762 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2833A>G; p.S945G; 12:57166965-57166965 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.10492G>T; p.E3498*; 12:57201803-57201803 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.3487G>A; p.D1163N; 12:57173920-57173920 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3173C>T; p.P1058L; 12:57173177-57173177 |
skin | malignant_melanoma | Substitution - Missense |
c.589C>T; p.R197W; 12:57145238-57145238 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.350G>A; p.R117H; 12:57143700-57143700 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.556C>T; p.R186C; 12:57145079-57145079 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.9484A>G; p.T3162A; 12:57198478-57198478 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2326delC; p.T778fs*2; 12:57162440-57162440 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.8810G>C; p.R2937P; 12:57196195-57196195 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.8810G>C; p.R2937P; 12:57196195-57196195 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.9174C>T; p.N3058N; 12:57197556-57197556 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4267C>T; p.R1423C; 12:57177497-57177497 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.11842G>T; p.G3948C; 12:57206724-57206724 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.4425C>T; p.H1475H; 12:57178422-57178422 |
prostate | carcinoma | Substitution - coding silent |
c.4425C>T; p.H1475H; 12:57178422-57178422 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3601G>T; p.G1201C; 12:57175513-57175513 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.10766C>T; p.A3589V; 12:57203235-57203235 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.10930G>A; p.E3644K; 12:57203500-57203500 |
skin | malignant_melanoma | Substitution - Missense |
c.3595G>C; p.A1199P; 12:57175507-57175507 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2676G>A; p.Q892Q; 12:57166088-57166088 |
breast | carcinoma | Substitution - coding silent |
c.6653G>A; p.R2218H; 12:57185720-57185720 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3595G>C; p.A1199P; 12:57175507-57175507 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2377C>T; p.R793*; 12:57162491-57162491 |
pancreas | NS | Substitution - Nonsense |
c.6653G>A; p.R2218H; 12:57185720-57185720 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2208G>T; p.V736V; 12:57162322-57162322 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.2732G>A; p.R911H; 12:57166144-57166144 |
oesophagus | carcinoma | Substitution - Missense |
c.11034C>A; p.D3678E; 12:57204492-57204492 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.9550G>A; p.V3184M; 12:57198544-57198544 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5562C>T; p.N1854N; 12:57181191-57181191 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.11968G>A; p.E3990K; 12:57208146-57208146 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.11694G>C; p.E3898D; 12:57206576-57206576 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5861C>A; p.T1954K; 12:57183841-57183841 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.10660C>T; p.Q3554*; 12:57202486-57202486 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.4526G>A; p.G1509D; 12:57178523-57178523 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.4615C>T; p.P1539S; 12:57178898-57178898 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.11641C>T; p.L3881L; 12:57206523-57206523 |
skin | malignant_melanoma | Substitution - coding silent |
c.12537C>T; p.N4179N; 12:57210126-57210126 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5201G>A; p.R1734H; 12:57180106-57180106 |
prostate | carcinoma | Substitution - Missense |
c.1505_1507delGGA; p.R502_T503>P; 12:57156864-57156866 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Complex - deletion inframe |
c.8926G>A; p.D2976N; 12:57197015-57197015 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.13561C>T; p.L4521L; 12:57212481-57212481 |
oesophagus | carcinoma | Substitution - coding silent |
c.4688G>T; p.C1563F; 12:57178971-57178971 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1588T>C; p.Y530H; 12:57158428-57158428 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1588T>C; p.Y530H; 12:57158428-57158428 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.1588T>C; p.Y530H; 12:57158428-57158428 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2702A>G; p.K901R; 12:57166114-57166114 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2134C>T; p.R712C; 12:57161047-57161047 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.10236C>A; p.V3412V; 12:57201044-57201044 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2134C>T; p.R712C; 12:57161047-57161047 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.8109C>G; p.C2703W; 12:57194617-57194617 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.8091T>C; p.P2697P; 12:57194599-57194599 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.12680C>T; p.T4227M; 12:57210406-57210406 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2667C>G; p.L889L; 12:57165941-57165941 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.13112C>T; p.A4371V; 12:57211507-57211507 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.11495G>A; p.G3832D; 12:57205582-57205582 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.12214A>C; p.I4072L; 12:57209151-57209151 |
thyroid | other; neoplasm | Substitution - Missense |
c.4887G>A; p.V1629V; 12:57179477-57179477 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.5687C>A; p.S1896Y; 12:57183403-57183403 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.8418G>A; p.E2806E; 12:57195380-57195380 |
skin | malignant_melanoma | Substitution - coding silent |
c.13060G>A; p.V4354I; 12:57211319-57211319 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.9312C>T; p.P3104P; 12:57198185-57198185 |
skin | malignant_melanoma | Substitution - coding silent |
c.8381G>A; p.C2794Y; 12:57195343-57195343 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.886T>G; p.F296V; 12:57154252-57154252 |
skin | malignant_melanoma | Substitution - Missense |
c.617C>T; p.S206F; 12:57145266-57145266 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1087G>A; p.D363N; 12:57154561-57154561 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1969C>T; p.P657S; 12:57159995-57159995 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.4105G>A; p.E1369K; 12:57177154-57177154 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.3480_3481insC; p.D1163fs*1; 12:57173913-57173914 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.5757C>T; p.S1919S; 12:57183473-57183473 |
bone; calcaneus | chondrosarcoma | Substitution - coding silent |
c.13266C>A; p.A4422A; 12:57211934-57211934 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.11590+9G>T; p.?; 12:57205686-57205686 |
pancreas | carcinoid-endocrine_tumour | Unknown |
c.13102G>A; p.G4368S; 12:57211497-57211497 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.12575C>T; p.P4192L; 12:57210164-57210164 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.9357C>T; p.C3119C; 12:57198230-57198230 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3569G>A; p.G1190D; 12:57175481-57175481 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.9135C>T; p.D3045D; 12:57197357-57197357 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.4555A>C; p.N1519H; 12:57178552-57178552 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.11334C>T; p.I3778I; 12:57205248-57205248 |
skin | malignant_melanoma | Substitution - coding silent |
c.5795-8A>G; p.?; 12:57183767-57183767 |
pancreas | carcinoma | Unknown |
c.3693C>G; p.L1231L; 12:57175605-57175605 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3711C>T; p.C1237C; 12:57175623-57175623 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.11294A>G; p.D3765G; 12:57205208-57205208 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.5268C>T; p.L1756L; 12:57180361-57180361 |
skin | malignant_melanoma | Substitution - coding silent |
c.1915C>T; p.R639C; 12:57159941-57159941 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.11036G>T; p.C3679F; 12:57204494-57204494 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.6652C>T; p.R2218C; 12:57185719-57185719 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.6652C>T; p.R2218C; 12:57185719-57185719 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.13259-4C>G; p.?; 12:57211923-57211923 |
prostate | carcinoma | Unknown |
c.2327C>A; p.P776H; 12:57162441-57162441 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.7230C>T; p.H2410H; 12:57191003-57191003 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.11374_11375delTG; p.C3792fs*74; 12:57205389-57205390 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.13258C>T; p.H4420Y; 12:57211814-57211814 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.7636G>A; p.G2546S; 12:57193256-57193256 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.7230C>T; p.H2410H; 12:57191003-57191003 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.11292C>T; p.F3764F; 12:57205206-57205206 |
endometrium | carcinoma; serous_carcinoma | Substitution - coding silent |
c.2855C>T; p.S952F; 12:57166987-57166987 |
breast | carcinoma | Substitution - Missense |
c.4468G>A; p.E1490K; 12:57178465-57178465 |
skin | malignant_melanoma | Substitution - Missense |
c.4620T>A; p.C1540*; 12:57178903-57178903 |
thyroid | other; neoplasm | Substitution - Nonsense |
c.11292C>T; p.F3764F; 12:57205206-57205206 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.7517G>A; p.R2506Q; 12:57192932-57192932 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2127G>T; p.P709P; 12:57161040-57161040 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3668T>G; p.I1223S; 12:57175580-57175580 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5177T>C; p.M1726T; 12:57180082-57180082 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.11279G>A; p.R3760H; 12:57205193-57205193 |
prostate | carcinoma | Substitution - Missense |
c.11279G>A; p.R3760H; 12:57205193-57205193 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.7079G>A; p.R2360Q; 12:57190852-57190852 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3447G>A; p.S1149S; 12:57173880-57173880 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.4268G>A; p.R1423H; 12:57177498-57177498 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.7816G>A; p.G2606S; 12:57193910-57193910 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.10371G>A; p.Q3457Q; 12:57201522-57201522 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.11020G>A; p.D3674N; 12:57204478-57204478 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4268G>A; p.R1423H; 12:57177498-57177498 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.9368G>T; p.R3123L; 12:57198241-57198241 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1507A>C; p.T503P; 12:57156866-57156866 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1507A>C; p.T503P; 12:57156866-57156866 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2311G>A; p.G771S; 12:57162425-57162425 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable | Substitution - Missense |
c.1507A>C; p.T503P; 12:57156866-57156866 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1507A>C; p.T503P; 12:57156866-57156866 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4243G>A; p.A1415T; 12:57177473-57177473 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1507A>C; p.T503P; 12:57156866-57156866 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6448C>T; p.R2150W; 12:57185190-57185190 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4984G>A; p.G1662R; 12:57179799-57179799 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1507A>C; p.T503P; 12:57156866-57156866 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1507A>C; p.T503P; 12:57156866-57156866 |
liver | carcinoma | Substitution - Missense |
c.11095C>T; p.R3699W; 12:57204650-57204650 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1507A>C; p.T503P; 12:57156866-57156866 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3669C>T; p.I1223I; 12:57175581-57175581 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.4410G>A; p.E1470E; 12:57178407-57178407 |
skin | malignant_melanoma | Substitution - coding silent |
c.2808delC; p.N939fs*41; 12:57166940-57166940 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.7163C>T; p.A2388V; 12:57190936-57190936 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.9064A>G; p.K3022E; 12:57197153-57197153 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4736A>G; p.Y1579C; 12:57179019-57179019 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.13534A>T; p.M4512L; 12:57212454-57212454 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.10401delC; p.R3469fs*24; 12:57201552-57201552 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.10401delC; p.R3469fs*24; 12:57201552-57201552 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.13534A>T; p.M4512L; 12:57212454-57212454 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.5530C>T; p.H1844Y; 12:57181159-57181159 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.12477C>G; p.L4159L; 12:57210066-57210066 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2281C>A; p.R761R; 12:57162395-57162395 |
pancreas | carcinoma | Substitution - coding silent |
c.9621C>T; p.D3207D; 12:57198615-57198615 |
pancreas | carcinoma | Substitution - coding silent |
c.10954C>T; p.R3652W; 12:57204412-57204412 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.11383G>A; p.E3795K; 12:57205398-57205398 |
skin | malignant_melanoma | Substitution - Missense |
c.3414G>T; p.E1138D; 12:57173847-57173847 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.10954C>T; p.R3652W; 12:57204412-57204412 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5974G>A; p.A1992T; 12:57184129-57184129 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.7739C>T; p.S2580F; 12:57193620-57193620 |
skin | malignant_melanoma | Substitution - Missense |
c.8533G>C; p.D2845H; 12:57195753-57195753 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1405C>T; p.R469C; 12:57156271-57156271 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5974G>A; p.A1992T; 12:57184129-57184129 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.10954C>T; p.R3652W; 12:57204412-57204412 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.7897G>A; p.A2633T; 12:57193991-57193991 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.6485C>T; p.A2162V; 12:57185552-57185552 |
skin | malignant_melanoma | Substitution - Missense |
c.12040A>G; p.T4014A; 12:57208712-57208712 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.11140C>T; p.R3714C; 12:57204695-57204695 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.4114_4115insG; p.K1372fs*14; 12:57177163-57177164 |
skin | malignant_melanoma | Insertion - Frameshift |
c.10757G>A; p.R3586H; 12:57203226-57203226 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.7622G>C; p.S2541T; 12:57193242-57193242 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.7897G>A; p.A2633T; 12:57193991-57193991 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.10807G>A; p.G3603S; 12:57203276-57203276 |
skin | malignant_melanoma | Substitution - Missense |
c.2147T>C; p.V716A; 12:57161060-57161060 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.8484C>T; p.R2828R; 12:57195704-57195704 |
skin; leg | malignant_melanoma | Substitution - coding silent |
c.10573G>C; p.D3525H; 12:57201884-57201884 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2909C>T; p.S970L; 12:57167041-57167041 |
skin; nipple | malignant_melanoma | Substitution - Missense |
c.8484C>T; p.R2828R; 12:57195704-57195704 |
skin; leg | malignant_melanoma | Substitution - coding silent |
c.1386C>T; p.L462L; 12:57156252-57156252 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.9644T>G; p.F3215C; 12:57198638-57198638 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4454C>T; p.T1485M; 12:57178451-57178451 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2861C>T; p.T954M; 12:57166993-57166993 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.10941C>T; p.C3647C; 12:57203511-57203511 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.12947G>T; p.G4316V; 12:57211206-57211206 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.5921G>A; p.W1974*; 12:57183901-57183901 |
skin | malignant_melanoma | Substitution - Nonsense |
c.9223G>C; p.D3075H; 12:57197605-57197605 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.9223G>C; p.D3075H; 12:57197605-57197605 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.5921G>A; p.W1974*; 12:57183901-57183901 |
skin | malignant_melanoma | Substitution - Nonsense |
c.8279G>A; p.G2760E; 12:57195072-57195072 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2964A>G; p.R988R; 12:57167493-57167493 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5696A>G; p.E1899G; 12:57183412-57183412 |
liver | carcinoma | Substitution - Missense |
c.5696A>G; p.E1899G; 12:57183412-57183412 |
liver | carcinoma | Substitution - Missense |
c.6144C>G; p.N2048K; 12:57184410-57184410 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.4752C>T; p.F1584F; 12:57179342-57179342 |
skin | malignant_melanoma | Substitution - coding silent |
c.6051G>A; p.P2017P; 12:57184206-57184206 |
liver | carcinoma | Substitution - coding silent |
c.10952-1G>A; p.?; 12:57204409-57204409 |
large_intestine; caecum | carcinoma; adenocarcinoma | Unknown |
c.3527C>T; p.S1176L; 12:57173960-57173960 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5008C>A; p.R1670R; 12:57179823-57179823 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2514C>T; p.D838D; 12:57162967-57162967 |
pancreas | carcinoma | Substitution - coding silent |
c.9622G>A; p.A3208T; 12:57198616-57198616 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4801C>T; p.P1601S; 12:57179391-57179391 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3291T>C; p.C1097C; 12:57173295-57173295 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.4801C>T; p.P1601S; 12:57179391-57179391 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.6051G>A; p.P2017P; 12:57184206-57184206 |
liver | carcinoma | Substitution - coding silent |
c.6712G>A; p.A2238T; 12:57185779-57185779 |
skin | malignant_melanoma | Substitution - Missense |
c.449-8C>A; p.?; 12:57144964-57144964 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.301G>A; p.G101S; 12:57141484-57141484 |
pancreas | carcinoma | Substitution - Missense |
c.12627C>A; p.S4209R; 12:57210353-57210353 |
breast | carcinoma | Substitution - Missense |
c.301G>A; p.G101S; 12:57141484-57141484 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.12488G>A; p.S4163N; 12:57210077-57210077 |
liver | carcinoma | Substitution - Missense |
c.12488G>A; p.S4163N; 12:57210077-57210077 |
liver | carcinoma | Substitution - Missense |
c.449-8C>A; p.?; 12:57144964-57144964 |
liver | carcinoma | Unknown |
c.31C>T; p.P11S; 12:57128995-57128995 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.10069G>A; p.D3357N; 12:57200496-57200496 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1210A>C; p.I404L; 12:57154684-57154684 |
breast | carcinoma; HER-positive_carcinoma | Substitution - Missense |
c.3031_3032delTG; p.C1011fs*6; 12:57169175-57169176 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Deletion - Frameshift |
c.2531C>T; p.A844V; 12:57165805-57165805 |
pancreas | carcinoma | Substitution - Missense |
c.3176C>A; p.P1059H; 12:57173180-57173180 |
skin | malignant_melanoma | Substitution - Missense |
c.10315T>C; p.C3439R; 12:57201123-57201123 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.11439C>T; p.F3813F; 12:57205454-57205454 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2531C>T; p.A844V; 12:57165805-57165805 |
pancreas | carcinoma | Substitution - Missense |
c.11045A>G; p.N3682S; 12:57204503-57204503 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.13434C>T; p.G4478G; 12:57212201-57212201 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.7968C>T; p.L2656L; 12:57194403-57194403 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1896G>A; p.L632L; 12:57159922-57159922 |
thyroid | carcinoma | Substitution - coding silent |
c.10212C>T; p.D3404D; 12:57200802-57200802 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.8399G>T; p.C2800F; 12:57195361-57195361 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.11105G>A; p.R3702H; 12:57204660-57204660 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.10772G>T; p.R3591L; 12:57203241-57203241 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.558C>A; p.R186R; 12:57145081-57145081 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6961G>T; p.E2321*; 12:57187386-57187386 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.8505C>T; p.F2835F; 12:57195725-57195725 |
skin | malignant_melanoma | Substitution - coding silent |
c.8129C>T; p.P2710L; 12:57194637-57194637 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2441G>T; p.C814F; 12:57162894-57162894 |
breast | carcinoma | Substitution - Missense |
c.8505C>T; p.F2835F; 12:57195725-57195725 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.7497C>T; p.G2499G; 12:57192912-57192912 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1797C>T; p.D599D; 12:57158637-57158637 |
lung | carcinoid-endocrine_tumour; typical | Substitution - coding silent |
c.11119C>T; p.R3707C; 12:57204674-57204674 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.10005G>A; p.T3335T; 12:57200016-57200016 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.12243G>T; p.V4081V; 12:57209180-57209180 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.4551G>A; p.R1517R; 12:57178548-57178548 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1022A>T; p.D341V; 12:57154496-57154496 |
liver | carcinoma | Substitution - Missense |
c.12818C>T; p.A4273V; 12:57210781-57210781 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2394G>T; p.Q798H; 12:57162508-57162508 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.11308G>T; p.G3770C; 12:57205222-57205222 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1022A>T; p.D341V; 12:57154496-57154496 |
liver | carcinoma | Substitution - Missense |
c.5122G>A; p.V1708I; 12:57179937-57179937 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.11990C>T; p.S3997L; 12:57208168-57208168 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.11922G>C; p.W3974C; 12:57208100-57208100 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.10419C>T; p.C3473C; 12:57201570-57201570 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6585C>T; p.R2195R; 12:57185652-57185652 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.145G>T; p.G49C; 12:57138536-57138536 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.13467C>G; p.D4489E; 12:57212234-57212234 |
ovary | other; neoplasm | Substitution - Missense |
c.3056A>G; p.Q1019R; 12:57169200-57169200 |
kidney | other; neoplasm | Substitution - Missense |
c.8960G>A; p.S2987N; 12:57197049-57197049 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.9533C>T; p.S3178F; 12:57198527-57198527 |
breast | carcinoma | Substitution - Missense |
c.4096G>A; p.D1366N; 12:57177145-57177145 |
pancreas | carcinoma | Substitution - Missense |
c.11779C>T; p.R3927C; 12:57206661-57206661 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3484C>T; p.P1162S; 12:57173917-57173917 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3326A>G; p.K1109R; 12:57173330-57173330 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.6403C>T; p.R2135*; 12:57185145-57185145 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.4096G>A; p.D1366N; 12:57177145-57177145 |
pancreas | carcinoma | Substitution - Missense |
c.289G>T; p.D97Y; 12:57141472-57141472 |
prostate | carcinoma | Substitution - Missense |
c.12129C>A; p.N4043K; 12:57208801-57208801 |
thyroid | other; neoplasm | Substitution - Missense |
c.4150G>A; p.G1384S; 12:57177199-57177199 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.13285C>T; p.L4429L; 12:57211953-57211953 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.908G>T; p.R303M; 12:57154274-57154274 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.10230C>T; p.I3410I; 12:57201038-57201038 |
skin | malignant_melanoma | Substitution - coding silent |
c.10359C>T; p.C3453C; 12:57201510-57201510 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5410C>T; p.Q1804*; 12:57180690-57180690 |
skin | malignant_melanoma | Substitution - Nonsense |
c.10359C>T; p.C3453C; 12:57201510-57201510 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4385G>A; p.R1462H; 12:57178382-57178382 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.6765C>G; p.I2255M; 12:57185832-57185832 |
breast | carcinoma | Substitution - Missense |
c.7721G>A; p.S2574N; 12:57193602-57193602 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.4385G>A; p.R1462H; 12:57178382-57178382 |
stomach | adenocarcinoma | Substitution - Missense |
c.6208G>A; p.D2070N; 12:57184860-57184860 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1344C>T; p.T448T; 12:57156210-57156210 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.4139C>G; p.T1380S; 12:57177188-57177188 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.7135C>T; p.P2379S; 12:57190908-57190908 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.300C>T; p.D100D; 12:57141483-57141483 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.12636C>T; p.L4212L; 12:57210362-57210362 |
breast | carcinoma | Substitution - coding silent |
c.1707G>T; p.E569D; 12:57158547-57158547 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.883T>C; p.Y295H; 12:57154249-57154249 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.455A>T; p.D152V; 12:57144978-57144978 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.8468T>C; p.F2823S; 12:57195688-57195688 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.10990A>C; p.T3664P; 12:57204448-57204448 |
breast | carcinoma | Substitution - Missense |
c.7842C>T; p.D2614D; 12:57193936-57193936 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5298C>T; p.I1766I; 12:57180391-57180391 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1780G>C; p.E594Q; 12:57158620-57158620 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.11658_11659CC>TT; p.H3887Y; 12:57206540-57206541 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.11090C>T; p.P3697L; 12:57204645-57204645 |
skin | malignant_melanoma | Substitution - Missense |
c.4261G>C; p.A1421P; 12:57177491-57177491 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.7896C>T; p.D2632D; 12:57193990-57193990 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.13300C>G; p.L4434V; 12:57211968-57211968 |
thyroid | carcinoma | Substitution - Missense |
c.7483C>T; p.L2495F; 12:57192898-57192898 |
pancreas | carcinoma | Substitution - Missense |
c.13536delG; p.G4514fs*26; 12:57212456-57212456 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.8096A>C; p.N2699T; 12:57194604-57194604 |
skin | malignant_melanoma | Substitution - Missense |
c.4561C>A; p.Q1521K; 12:57178558-57178558 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.11707G>A; p.D3903N; 12:57206589-57206589 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.7714C>T; p.Q2572*; 12:57193595-57193595 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1934G>T; p.G645V; 12:57159960-57159960 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.5220C>T; p.G1740G; 12:57180125-57180125 |
pancreas | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.3192T>C; p.T1064T; 12:57173196-57173196 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.13134C>T; p.V4378V; 12:57211529-57211529 |
skin | malignant_melanoma | Substitution - coding silent |
c.12435C>T; p.P4145P; 12:57209864-57209864 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.576C>T; p.N192N; 12:57145099-57145099 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5140G>T; p.G1714W; 12:57179955-57179955 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.11896G>A; p.D3966N; 12:57208074-57208074 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.7026C>T; p.C2342C; 12:57187451-57187451 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3882C>A; p.P1294P; 12:57175997-57175997 |
skin | malignant_melanoma | Substitution - coding silent |
c.7448G>A; p.R2483Q; 12:57192863-57192863 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.7448G>A; p.R2483Q; 12:57192863-57192863 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3357C>A; p.I1119I; 12:57173790-57173790 |
breast | carcinoma | Substitution - coding silent |
c.8173G>A; p.E2725K; 12:57194681-57194681 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1035C>T; p.I345I; 12:57154509-57154509 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1035C>T; p.I345I; 12:57154509-57154509 |
skin | malignant_melanoma | Substitution - coding silent |
c.9038C>T; p.P3013L; 12:57197127-57197127 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.6616C>T; p.R2206C; 12:57185683-57185683 |
pancreas | carcinoma | Substitution - Missense |
c.6103C>T; p.R2035W; 12:57184369-57184369 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.13339C>T; p.R4447*; 12:57212007-57212007 |
lung; middle_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4436C>T; p.S1479L; 12:57178433-57178433 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.8009G>A; p.S2670N; 12:57194444-57194444 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6715C>A; p.L2239M; 12:57185782-57185782 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.6399C>T; p.P2133P; 12:57185141-57185141 |
skin | malignant_melanoma | Substitution - coding silent |
c.4540G>A; p.V1514M; 12:57178537-57178537 |
pancreas | carcinoma | Substitution - Missense |
c.7159C>T; p.R2387C; 12:57190932-57190932 |
skin | malignant_melanoma | Substitution - Missense |
c.4904G>A; p.R1635Q; 12:57179494-57179494 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.7159C>T; p.R2387C; 12:57190932-57190932 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.901G>A; p.D301N; 12:57154267-57154267 |
pancreas | carcinoma | Substitution - Missense |
c.7159C>T; p.R2387C; 12:57190932-57190932 |
skin | malignant_melanoma | Substitution - Missense |
c.10904A>G; p.D3635G; 12:57203474-57203474 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.7704G>C; p.K2568N; 12:57193585-57193585 |
skin | malignant_melanoma | Substitution - Missense |
c.12436G>A; p.E4146K; 12:57209865-57209865 |
skin | malignant_melanoma | Substitution - Missense |
c.2780C>T; p.S927F; 12:57166192-57166192 |
skin | malignant_melanoma | Substitution - Missense |
c.2796A>G; p.S932S; 12:57166208-57166208 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2440T>C; p.C814R; 12:57162893-57162893 |
breast | carcinoma | Substitution - Missense |
c.12605T>C; p.L4202P; 12:57210331-57210331 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1728C>A; p.A576A; 12:57158568-57158568 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.9046G>A; p.G3016S; 12:57197135-57197135 |
skin | malignant_melanoma | Substitution - Missense |
c.4132C>T; p.R1378W; 12:57177181-57177181 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3682G>A; p.A1228T; 12:57175594-57175594 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3900C>T; p.I1300I; 12:57176015-57176015 |
skin | malignant_melanoma | Substitution - coding silent |
c.1197G>T; p.K399N; 12:57154671-57154671 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4166C>A; p.P1389Q; 12:57177215-57177215 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.374T>C; p.V125A; 12:57143724-57143724 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.7186G>A; p.A2396T; 12:57190959-57190959 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1083C>T; p.L361L; 12:57154557-57154557 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5973C>T; p.V1991V; 12:57184128-57184128 |
skin; leg | malignant_melanoma; superficial_spreading | Substitution - coding silent |
c.3943G>A; p.D1315N; 12:57176058-57176058 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6874C>T; p.R2292C; 12:57187299-57187299 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4681G>A; p.V1561M; 12:57178964-57178964 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4162C>T; p.H1388Y; 12:57177211-57177211 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.9824C>A; p.P3275H; 12:57199359-57199359 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.13625C>T; p.P4542L; 12:57212545-57212545 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.8278G>T; p.G2760W; 12:57195071-57195071 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.7036A>G; p.M2346V; 12:57190809-57190809 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.889G>T; p.V297L; 12:57154255-57154255 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.6310_6317delTTTGAGGA; p.E2105fs*5; 12:57184962-57184969 |
stomach | adenocarcinoma | Deletion - Frameshift |
c.7203C>T; p.I2401I; 12:57190976-57190976 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.5027G>A; p.S1676N; 12:57179842-57179842 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.9210G>A; p.M3070I; 12:57197592-57197592 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.7203C>T; p.I2401I; 12:57190976-57190976 |
skin | malignant_melanoma | Substitution - coding silent |
c.4766G>A; p.R1589H; 12:57179356-57179356 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.7269C>T; p.F2423F; 12:57191352-57191352 |
skin | malignant_melanoma | Substitution - coding silent |
c.2520C>T; p.V840V; 12:57162973-57162973 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.11212A>T; p.T3738S; 12:57205126-57205126 |
pancreas | carcinoma | Substitution - Missense |
c.7269C>T; p.F2423F; 12:57191352-57191352 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.8292C>T; p.D2764D; 12:57195085-57195085 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.8264G>A; p.G2755D; 12:57195057-57195057 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.13582C>T; p.R4528*; 12:57212502-57212502 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.7546A>C; p.T2516P; 12:57192961-57192961 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.5600C>T; p.T1867M; 12:57181229-57181229 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.8292C>T; p.D2764D; 12:57195085-57195085 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |