| General information | Literature | Expression | lncRNA |Regulation | Mutation | Homolog | Interaction |
Basic Information | |||
|---|---|---|---|
Gene ID | 2033 | ||
Name | EP300 | ||
The somatic mutations from COSMIC database | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.4949C>T; p.S1650F; 22:41176416-41176416 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1897C>T; p.L633L; 22:41141066-41141066 |
skin | malignant_melanoma | Substitution - coding silent |
c.4915C>T; p.L1639L; 22:41176382-41176382 |
breast | carcinoma | Substitution - coding silent |
c.6123C>G; p.L2041L; 22:41177834-41177834 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.3788A>T; p.E1263V; 22:41164112-41164112 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.4708A>G; p.K1570E; 22:41173713-41173713 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1421C>A; p.P474H; 22:41131526-41131526 |
thyroid | other; neoplasm | Substitution - Missense |
c.6413C>T; p.A2138V; 22:41178124-41178124 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4708A>G; p.K1570E; 22:41173713-41173713 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3198C>T; p.Y1066Y; 22:41155050-41155050 |
skin | malignant_melanoma | Substitution - coding silent |
c.4933C>A; p.R1645R; 22:41176400-41176400 |
skin; back | malignant_melanoma | Substitution - coding silent |
c.4708A>G; p.K1570E; 22:41173713-41173713 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.5014G>T; p.E1672*; 22:41176481-41176481 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.4397G>T; p.W1466L; 22:41170516-41170516 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4397G>T; p.W1466L; 22:41170516-41170516 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.5862C>T; p.H1954H; 22:41177573-41177573 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4397G>T; p.W1466L; 22:41170516-41170516 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.942C>T; p.G314G; 22:41127522-41127522 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2707G>T; p.A903S; 22:41150088-41150088 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4352A>C; p.H1451P; 22:41170471-41170471 |
breast | carcinoma | Substitution - Missense |
c.4916T>C; p.L1639P; 22:41176383-41176383 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.4916T>C; p.L1639P; 22:41176383-41176383 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1844T>G; p.V615G; 22:41140223-41140223 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3701_3702insA; p.N1236fs*2; 22:41162752-41162753 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.2777delC; p.P927fs*19; 22:41150158-41150158 |
meninges | meningioma | Deletion - Frameshift |
c.95-1G>A; p.?; 22:41117186-41117186 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Unknown |
c.4301A>G; p.H1434R; 22:41170420-41170420 |
liver | carcinoma | Substitution - Missense |
c.4955T>C; p.M1652T; 22:41176422-41176422 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4864G>A; p.D1622N; 22:41176331-41176331 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3270T>A; p.F1090L; 22:41157177-41157177 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.4353T>C; p.H1451H; 22:41170472-41170472 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.5335T>G; p.C1779G; 22:41177046-41177046 |
thyroid | other; neoplasm | Substitution - Missense |
c.6963_6964insC; p.H2324fs*55; 22:41178674-41178675 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.6662C>A; p.P2221Q; 22:41178373-41178373 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3841C>T; p.R1281*; 22:41166633-41166633 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.3934C>T; p.R1312*; 22:41168508-41168508 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.6963_6964insC; p.H2324fs*55; 22:41178674-41178675 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.6963_6964insC; p.H2324fs*55; 22:41178674-41178675 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.3934C>T; p.R1312*; 22:41168508-41168508 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.4795C>A; p.R1599S; 22:41176262-41176262 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.5956C>G; p.P1986A; 22:41177667-41177667 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.188A>G; p.Q63R; 22:41117280-41117280 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3595C>T; p.H1199Y; 22:41160646-41160646 |
skin | malignant_melanoma | Substitution - Missense |
c.2590C>T; p.P864S; 22:41149971-41149971 |
skin | malignant_melanoma | Substitution - Missense |
c.1109G>A; p.R370H; 22:41127689-41127689 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1109G>A; p.R370H; 22:41127689-41127689 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.775C>T; p.Q259*; 22:41125909-41125909 |
breast | carcinoma | Substitution - Nonsense |
c.743A>C; p.N248T; 22:41125877-41125877 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.4992C>T; p.D1664D; 22:41176459-41176459 |
skin | malignant_melanoma | Substitution - coding silent |
c.736A>T; p.M246L; 22:41125870-41125870 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3857A>G; p.N1286S; 22:41166649-41166649 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3857A>G; p.N1286S; 22:41166649-41166649 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.4453-1G>C; p.?; 22:41172498-41172498 |
urinary_tract; bladder | carcinoma | Unknown |
c.6720A>G; p.G2240G; 22:41178431-41178431 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.498C>A; p.N166K; 22:41117590-41117590 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1192C>T; p.Q398*; 22:41129913-41129913 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.4608A>T; p.E1536D; 22:41172654-41172654 |
breast | carcinoma | Substitution - Missense |
c.3667C>G; p.Q1223E; 22:41160718-41160718 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4607A>G; p.E1536G; 22:41172653-41172653 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.4235C>T; p.A1412V; 22:41169565-41169565 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.89G>A; p.G30D; 22:41093093-41093093 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.4011A>T; p.P1337P; 22:41168585-41168585 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4505C>G; p.P1502R; 22:41172551-41172551 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5188delT; p.S1730fs*4; 22:41176899-41176899 |
ovary | carcinoma | Deletion - Frameshift |
c.5188delT; p.S1730fs*4; 22:41176899-41176899 |
ovary | carcinoma | Deletion - Frameshift |
c.6221T>C; p.L2074P; 22:41177932-41177932 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5188delT; p.S1730fs*4; 22:41176899-41176899 |
ovary | carcinoma | Deletion - Frameshift |
c.1440G>A; p.M480I; 22:41131545-41131545 |
breast | carcinoma | Substitution - Missense |
c.3591-1G>T; p.?; 22:41160641-41160641 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.2393G>A; p.S798N; 22:41149774-41149774 |
skin | malignant_melanoma | Substitution - Missense |
c.5635C>T; p.P1879S; 22:41177346-41177346 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2921A>G; p.Q974R; 22:41151936-41151936 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2297C>T; p.P766L; 22:41149093-41149093 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.49A>G; p.K17E; 22:41093053-41093053 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.89G>T; p.G30V; 22:41093093-41093093 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.89G>T; p.G30V; 22:41093093-41093093 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.533T>A; p.L178*; 22:41117625-41117625 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.3416A>G; p.Y1139C; 22:41157323-41157323 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.5854A>G; p.I1952V; 22:41177565-41177565 |
breast | carcinoma | Substitution - Missense |
c.1442C>A; p.P481Q; 22:41131547-41131547 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.3671+1G>A; p.?; 22:41160723-41160723 |
stomach | carcinoma; intestinal_adenocarcinoma | Unknown |
c.2313_2314insT; p.S772fs*27; 22:41149109-41149110 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.2003C>T; p.S668F; 22:41141172-41141172 |
haematopoietic_and_lymphoid_tissue; abdomen | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.3671+1G>A; p.?; 22:41160723-41160723 |
pancreas | NS | Unknown |
c.3731T>G; p.F1244C; 22:41164055-41164055 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.18G>A; p.V6V; 22:41093022-41093022 |
breast | carcinoma | Substitution - coding silent |
c.4130A>G; p.H1377R; 22:41168825-41168825 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3653A>G; p.D1218G; 22:41160704-41160704 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4519G>A; p.D1507N; 22:41172565-41172565 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.4662G>C; p.K1554N; 22:41173667-41173667 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.4662G>C; p.K1554N; 22:41173667-41173667 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.5279A>G; p.K1760R; 22:41176990-41176990 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3742_3743delAC; p.T1248fs*15; 22:41164066-41164067 |
salivary_gland | carcinoma; adenoid_cystic_carcinoma | Deletion - Frameshift |
c.4662G>C; p.K1554N; 22:41173667-41173667 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1528+2T>C; p.?; 22:41131635-41131635 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.5039G>A; p.R1680H; 22:41176506-41176506 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.5039G>A; p.R1680H; 22:41176506-41176506 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3041A>G; p.E1014G; 22:41152249-41152249 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3041A>G; p.E1014G; 22:41152249-41152249 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3041A>G; p.E1014G; 22:41152249-41152249 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.6645A>C; p.Q2215H; 22:41178356-41178356 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4355C>T; p.P1452L; 22:41170474-41170474 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5099delA; p.N1700fs*9; 22:41176810-41176810 |
large_intestine; colon | carcinoma | Deletion - Frameshift |
c.4355C>T; p.P1452L; 22:41170474-41170474 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4355C>T; p.P1452L; 22:41170474-41170474 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1451C>T; p.P484L; 22:41131556-41131556 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3560G>A; p.R1187H; 22:41158470-41158470 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4355C>T; p.P1452L; 22:41170474-41170474 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4355C>T; p.P1452L; 22:41170474-41170474 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2124A>G; p.P708P; 22:41146809-41146809 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.376A>G; p.M126V; 22:41117468-41117468 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.2686C>T; p.Q896*; 22:41150067-41150067 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.6892C>T; p.Q2298*; 22:41178603-41178603 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.6892C>T; p.Q2298*; 22:41178603-41178603 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1206C>T; p.H402H; 22:41129927-41129927 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5748A>C; p.P1916P; 22:41177459-41177459 |
breast | carcinoma | Substitution - coding silent |
c.982C>T; p.H328Y; 22:41127562-41127562 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.6754G>T; p.E2252*; 22:41178465-41178465 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.6597A>G; p.P2199P; 22:41178308-41178308 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.6117C>T; p.S2039S; 22:41177828-41177828 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4048G>A; p.A1350T; 22:41168743-41168743 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.7121C>A; p.S2374Y; 22:41178832-41178832 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.5528A>C; p.Q1843P; 22:41177239-41177239 |
breast | carcinoma | Substitution - Missense |
c.5553T>C; p.T1851T; 22:41177264-41177264 |
breast | carcinoma | Substitution - coding silent |
c.2776_2777insC; p.T928fs*21; 22:41150157-41150158 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.4356T>C; p.P1452P; 22:41170475-41170475 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5364C>G; p.L1788L; 22:41177075-41177075 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.4894_4895insGGACCA; p.L1631_T1632insRT; 22:41176361-41176362 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - In frame |
c.2820T>G; p.L940L; 22:41151835-41151835 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.197C>T; p.T66I; 22:41117289-41117289 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5095delA; p.N1700fs*9; 22:41176806-41176806 |
breast | carcinoma | Deletion - Frameshift |
c.3281A>G; p.K1094R; 22:41157188-41157188 |
liver | carcinoma | Substitution - Missense |
c.1529-2A>G; p.?; 22:41135811-41135811 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.5095delA; p.N1700fs*9; 22:41176806-41176806 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.5095delA; p.N1700fs*9; 22:41176806-41176806 |
breast | carcinoma | Deletion - Frameshift |
c.5095delA; p.N1700fs*9; 22:41176806-41176806 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.5095delA; p.N1700fs*9; 22:41176806-41176806 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.5850G>T; p.R1950S; 22:41177561-41177561 |
lung | carcinoma | Substitution - Missense |
c.5850G>T; p.R1950S; 22:41177561-41177561 |
lung | carcinoma | Substitution - Missense |
c.4409T>C; p.M1470T; 22:41170528-41170528 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1282+1G>A; p.?; 22:41130004-41130004 |
large_intestine; caecum | carcinoma; adenocarcinoma | Unknown |
c.4230G>T; p.R1410S; 22:41169560-41169560 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.7109A>T; p.N2370I; 22:41178820-41178820 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3482G>C; p.G1161A; 22:41157389-41157389 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4354_4355CC>TT; p.P1452F; 22:41170473-41170474 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.579C>T; p.N193N; 22:41117671-41117671 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4401_4402insA; p.M1470fs*3; 22:41170520-41170521 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.5947G>A; p.G1983R; 22:41177658-41177658 |
skin | malignant_melanoma | Substitution - Missense |
c.1836T>C; p.A612A; 22:41140215-41140215 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.4401_4402insA; p.M1470fs*3; 22:41170520-41170521 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.4401_4402insA; p.M1470fs*3; 22:41170520-41170521 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.3355G>A; p.D1119N; 22:41157262-41157262 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4401_4402insA; p.M1470fs*3; 22:41170520-41170521 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.3927T>C; p.F1309F; 22:41168501-41168501 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4401_4402insA; p.M1470fs*3; 22:41170520-41170521 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1442C>T; p.P481L; 22:41131547-41131547 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1442C>T; p.P481L; 22:41131547-41131547 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.444G>A; p.T148T; 22:41117536-41117536 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.444G>A; p.T148T; 22:41117536-41117536 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3641C>T; p.S1214F; 22:41160692-41160692 |
skin | malignant_melanoma | Substitution - Missense |
c.7079A>G; p.E2360G; 22:41178790-41178790 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.6772C>T; p.Q2258*; 22:41178483-41178483 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.61C>G; p.P21A; 22:41093065-41093065 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.5459A>G; p.H1820R; 22:41177170-41177170 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4399T>G; p.Y1467D; 22:41170518-41170518 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.4860C>T; p.P1620P; 22:41176327-41176327 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.40A>C; p.K14Q; 22:41093044-41093044 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4461_4462insT; p.K1488fs*1; 22:41172507-41172508 |
pancreas | NS | Insertion - Frameshift |
c.6004C>G; p.Q2002E; 22:41177715-41177715 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.6643C>A; p.Q2215K; 22:41178354-41178354 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3810C>T; p.F1270F; 22:41166602-41166602 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.4227G>C; p.L1409F; 22:41169557-41169557 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4534_4536delGTT; p.V1512del; 22:41172580-41172582 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.4606G>A; p.E1536K; 22:41172652-41172652 |
haematopoietic_and_lymphoid_tissue; central_nervous_system | lymphoid_neoplasm; primary_central_nervous_system_lymphoma | Substitution - Missense |
c.4364A>G; p.Q1455R; 22:41170483-41170483 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.6630_6643del14; p.F2211fs*86; 22:41178341-41178354 |
soft_tissue; striated_muscle | rhabdomyosarcoma | Deletion - Frameshift |
c.7114A>G; p.M2372V; 22:41178825-41178825 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.787C>G; p.Q263E; 22:41125921-41125921 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.4561G>C; p.E1521Q; 22:41172607-41172607 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4561G>C; p.E1521Q; 22:41172607-41172607 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1854C>G; p.D618E; 22:41140233-41140233 |
NS | NS | Substitution - Missense |
c.3853G>T; p.E1285*; 22:41166645-41166645 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.4561G>C; p.E1521Q; 22:41172607-41172607 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.5958G>A; p.P1986P; 22:41177669-41177669 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.39C>G; p.A13A; 22:41093043-41093043 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6802C>A; p.Q2268K; 22:41178513-41178513 |
prostate | carcinoma | Substitution - Missense |
c.4343T>C; p.F1448S; 22:41170462-41170462 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1796C>A; p.A599D; 22:41140175-41140175 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5585A>C; p.Q1862P; 22:41177296-41177296 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2534C>G; p.T845S; 22:41149915-41149915 |
lung | carcinoid-endocrine_tumour; typical | Substitution - Missense |
c.4564_4565insTGGAAG; p.Q1522>LEE; 22:41172610-41172611 |
large_intestine | carcinoma; adenocarcinoma | Complex - insertion inframe |
c.4540G>A; p.E1514K; 22:41172586-41172586 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4540G>A; p.E1514K; 22:41172586-41172586 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4540G>A; p.E1514K; 22:41172586-41172586 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4724_4759del36; p.N1575_A1586del; 22:41173729-41173764 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.4540G>A; p.E1514K; 22:41172586-41172586 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.7219T>C; p.S2407P; 22:41178930-41178930 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.5109C>T; p.H1703H; 22:41176820-41176820 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - coding silent |
c.1768G>C; p.A590P; 22:41140147-41140147 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1839G>C; p.R613R; 22:41140218-41140218 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3391T>A; p.Y1131N; 22:41157298-41157298 |
liver | carcinoma | Substitution - Missense |
c.3117G>A; p.P1039P; 22:41152325-41152325 |
liver | carcinoma | Substitution - coding silent |
c.5193C>T; p.R1731R; 22:41176904-41176904 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3842G>A; p.R1281Q; 22:41166634-41166634 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.6166C>T; p.R2056W; 22:41177877-41177877 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1811G>A; p.R604Q; 22:41140190-41140190 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3117G>A; p.P1039P; 22:41152325-41152325 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3117G>A; p.P1039P; 22:41152325-41152325 |
liver | carcinoma | Substitution - coding silent |
c.4751T>G; p.L1584R; 22:41173756-41173756 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1595T>G; p.M532R; 22:41135879-41135879 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4751T>G; p.L1584R; 22:41173756-41173756 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6048G>A; p.M2016I; 22:41177759-41177759 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4453-3C>G; p.?; 22:41172496-41172496 |
lung | carcinoma; small_cell_carcinoma | Unknown |
c.1349C>T; p.A450V; 22:41131454-41131454 |
breast | carcinoma | Substitution - Missense |
c.4372_4377delCCCAAG; p.P1460_K1461delPK; 22:41170491-41170496 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Deletion - In frame |
c.5633C>A; p.T1878N; 22:41177344-41177344 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4099G>T; p.D1367Y; 22:41168794-41168794 |
skin | malignant_melanoma | Substitution - Missense |
c.1543G>T; p.G515*; 22:41135827-41135827 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2403_2404CC>TT; p.P802S; 22:41149784-41149785 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2359G>A; p.G787S; 22:41149155-41149155 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.4372_4377delCCCAAG; p.P1460_K1461delPK; 22:41170491-41170496 |
urinary_tract; bladder | carcinoma | Deletion - In frame |
c.4617+1_4617+2insT; p.?; 22:41172664-41172665 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.746A>G; p.N249S; 22:41125880-41125880 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.6266C>G; p.A2089G; 22:41177977-41177977 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.4709A>G; p.K1570R; 22:41173714-41173714 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.644_654del11; p.G216fs*2; 22:41117736-41117746 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Deletion - Frameshift |
c.5358_5359insA; p.A1787fs*96; 22:41177069-41177070 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - Frameshift |
c.4709A>G; p.K1570R; 22:41173714-41173714 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2350C>T; p.P784S; 22:41149146-41149146 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.644_654del11; p.G216fs*2; 22:41117736-41117746 |
urinary_tract; bladder | carcinoma | Deletion - Frameshift |
c.2485C>T; p.Q829*; 22:41149866-41149866 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.1499C>T; p.P500L; 22:41131604-41131604 |
skin | malignant_melanoma | Substitution - Missense |
c.3996C>T; p.T1332T; 22:41168570-41168570 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.4067G>A; p.R1356Q; 22:41168762-41168762 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4161A>C; p.P1387P; 22:41168856-41168856 |
breast | carcinoma | Substitution - coding silent |
c.4981C>T; p.Q1661*; 22:41176448-41176448 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.7073C>T; p.P2358L; 22:41178784-41178784 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4981C>T; p.Q1661*; 22:41176448-41176448 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1881G>A; p.A627A; 22:41141050-41141050 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.4454A>T; p.D1485V; 22:41172500-41172500 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.2083C>T; p.R695C; 22:41146768-41146768 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1608C>T; p.A536A; 22:41135892-41135892 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.4454A>T; p.D1485V; 22:41172500-41172500 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2957A>T; p.Q986L; 22:41151972-41151972 |
breast | carcinoma | Substitution - Missense |
c.4454A>T; p.D1485V; 22:41172500-41172500 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2470C>T; p.Q824*; 22:41149851-41149851 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.3875-2A>G; p.?; 22:41168447-41168447 |
lung | carcinoma; small_cell_carcinoma | Unknown |
c.4538T>C; p.L1513P; 22:41172584-41172584 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3338A>T; p.E1113V; 22:41157245-41157245 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2470C>T; p.Q824*; 22:41149851-41149851 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.656T>C; p.L219P; 22:41117748-41117748 |
skin | malignant_melanoma | Substitution - Missense |
c.2480T>C; p.L827P; 22:41149861-41149861 |
breast | carcinoma | Substitution - Missense |
c.2470C>T; p.Q824*; 22:41149851-41149851 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.871delA; p.K292fs*25; 22:41126005-41126005 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.5842T>A; p.F1948I; 22:41177553-41177553 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1393G>T; p.E465*; 22:41131498-41131498 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1393G>T; p.E465*; 22:41131498-41131498 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4391A>T; p.Q1464L; 22:41170510-41170510 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3233C>T; p.P1078L; 22:41155085-41155085 |
skin | malignant_melanoma | Substitution - Missense |
c.2761G>A; p.A921T; 22:41150142-41150142 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.4239_4240insT; p.Y1414fs*3; 22:41169569-41169570 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Insertion - Frameshift |
c.5346C>A; p.C1782*; 22:41177057-41177057 |
ovary | carcinoma | Substitution - Nonsense |
c.1335_1336GG>TT; p.G446C; 22:41131440-41131441 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4239_4240insT; p.Y1414fs*3; 22:41169569-41169570 |
urinary_tract; bladder | carcinoma | Insertion - Frameshift |
c.4340_4342delTCT; p.F1448delF; 22:41170459-41170461 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.2092G>C; p.V698L; 22:41146777-41146777 |
ovary | other; neoplasm | Substitution - Missense |
c.2830G>T; p.A944S; 22:41151845-41151845 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2498C>T; p.S833L; 22:41149879-41149879 |
breast | carcinoma | Substitution - Missense |
c.3659C>G; p.S1220C; 22:41160710-41160710 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.3183T>A; p.T1061T; 22:41155035-41155035 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6668A>C; p.Q2223P; 22:41178379-41178379 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2524C>T; p.P842S; 22:41149905-41149905 |
NS | malignant_melanoma | Substitution - Missense |
c.2524C>T; p.P842S; 22:41149905-41149905 |
NS | malignant_melanoma | Substitution - Missense |
c.2524C>T; p.P842S; 22:41149905-41149905 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4512C>T; p.F1504F; 22:41172558-41172558 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.4455T>A; p.D1485E; 22:41172501-41172501 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2599C>T; p.P867S; 22:41149980-41149980 |
skin | malignant_melanoma | Substitution - Missense |
c.4512C>T; p.F1504F; 22:41172558-41172558 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1891C>G; p.H631D; 22:41141060-41141060 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4189T>C; p.Y1397H; 22:41169519-41169519 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.4355C>A; p.P1452H; 22:41170474-41170474 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5195G>A; p.R1732H; 22:41176906-41176906 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.4402delA; p.M1470fs*26; 22:41170521-41170521 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.4402delA; p.M1470fs*26; 22:41170521-41170521 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.4402delA; p.M1470fs*26; 22:41170521-41170521 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.6820C>T; p.Q2274*; 22:41178531-41178531 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.4513G>T; p.E1505*; 22:41172559-41172559 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3262-2A>G; p.?; 22:41157167-41157167 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Unknown |
c.4880delG; p.D1628fs*81; 22:41176347-41176347 |
salivary_gland; mouth_roof | carcinoma; adenoid_cystic_carcinoma | Deletion - Frameshift |
c.5860_5861insTTG; p.H1954>LD; 22:41177571-41177572 |
central_nervous_system; brain | glioma | Complex - insertion inframe |
c.4382A>G; p.K1461R; 22:41170501-41170501 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6019C>T; p.Q2007*; 22:41177730-41177730 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.5791C>T; p.Q1931*; 22:41177502-41177502 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.6776C>T; p.A2259V; 22:41178487-41178487 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.4796G>A; p.R1599H; 22:41176263-41176263 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.3348G>A; p.Q1116Q; 22:41157255-41157255 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.5209C>T; p.R1737C; 22:41176920-41176920 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3728+4A>C; p.?; 22:41162783-41162783 |
liver | carcinoma | Unknown |
c.4195G>A; p.D1399N; 22:41169525-41169525 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4195G>A; p.D1399N; 22:41169525-41169525 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4195G>A; p.D1399N; 22:41169525-41169525 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4195G>A; p.D1399N; 22:41169525-41169525 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6022T>C; p.S2008P; 22:41177733-41177733 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3302C>T; p.T1101I; 22:41157209-41157209 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4195G>A; p.D1399N; 22:41169525-41169525 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.4195G>A; p.D1399N; 22:41169525-41169525 |
oesophagus | carcinoma | Substitution - Missense |
c.4195G>A; p.D1399N; 22:41169525-41169525 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.4388T>G; p.L1463R; 22:41170507-41170507 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.5587C>T; p.P1863S; 22:41177298-41177298 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.5056_5057delTG; p.C1686fs*1; 22:41176523-41176524 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.4195G>A; p.D1399N; 22:41169525-41169525 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4195G>A; p.D1399N; 22:41169525-41169525 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4195G>A; p.D1399N; 22:41169525-41169525 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.256C>T; p.R86*; 22:41117348-41117348 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4195G>A; p.D1399N; 22:41169525-41169525 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2546T>C; p.I849T; 22:41149927-41149927 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.5490G>T; p.R1830S; 22:41177201-41177201 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.584C>T; p.S195L; 22:41117676-41117676 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1081G>A; p.V361M; 22:41127661-41127661 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.6574_6585del12; p.Q2192_Q2195delQQQQ; 22:41178285-41178296 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Deletion - In frame |
c.1244T>C; p.L415P; 22:41129965-41129965 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.6964delC; p.H2324fs*29; 22:41178675-41178675 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1778C>A; p.P593H; 22:41140157-41140157 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3603T>C; p.C1201C; 22:41160654-41160654 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.511G>T; p.A171S; 22:41117603-41117603 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.511G>T; p.A171S; 22:41117603-41117603 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6964delC; p.H2324fs*29; 22:41178675-41178675 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.4256T>C; p.I1419T; 22:41169586-41169586 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4399T>C; p.Y1467H; 22:41170518-41170518 |
haematopoietic_and_lymphoid_tissue; tonsil | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.6964delC; p.H2324fs*29; 22:41178675-41178675 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.4365G>T; p.Q1455H; 22:41170484-41170484 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5568G>A; p.T1856T; 22:41177279-41177279 |
pancreas | carcinoma | Substitution - coding silent |
c.1244T>C; p.L415P; 22:41129965-41129965 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.5710C>T; p.Q1904*; 22:41177421-41177421 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1244T>C; p.L415P; 22:41129965-41129965 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.5189C>T; p.S1730F; 22:41176900-41176900 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.5875A>G; p.M1959V; 22:41177586-41177586 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3900C>T; p.T1300T; 22:41168474-41168474 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3641C>A; p.S1214Y; 22:41160692-41160692 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3241C>T; p.P1081S; 22:41155093-41155093 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4492G>A; p.A1498T; 22:41172538-41172538 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.3635G>A; p.S1212N; 22:41160686-41160686 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.257G>A; p.R86Q; 22:41117349-41117349 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2462A>G; p.Q821R; 22:41149843-41149843 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.257G>A; p.R86Q; 22:41117349-41117349 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1770C>T; p.A590A; 22:41140149-41140149 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1303G>A; p.V435I; 22:41131408-41131408 |
liver | carcinoma | Substitution - Missense |
c.1906A>G; p.K636E; 22:41141075-41141075 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.3040G>T; p.E1014*; 22:41152248-41152248 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2090G>A; p.S697N; 22:41146775-41146775 |
breast | carcinoma | Substitution - Missense |
c.3040G>T; p.E1014*; 22:41152248-41152248 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3040G>T; p.E1014*; 22:41152248-41152248 |
large_intestine; colon | carcinoma | Substitution - Nonsense |
c.3040G>T; p.E1014*; 22:41152248-41152248 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.5485C>T; p.R1829C; 22:41177196-41177196 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1672A>G; p.T558A; 22:41137702-41137702 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.5485C>T; p.R1829C; 22:41177196-41177196 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.6866C>T; p.A2289V; 22:41178577-41178577 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.6796_6798delCAG; p.Q2268delQ; 22:41178507-41178509 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - In frame |
c.6796_6798delCAG; p.Q2268delQ; 22:41178507-41178509 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - In frame |
c.4114T>C; p.C1372R; 22:41168809-41168809 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3410G>T; p.R1137L; 22:41157317-41157317 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.4102G>A; p.G1368S; 22:41168797-41168797 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.6796_6798delCAG; p.Q2268delQ; 22:41178507-41178509 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - In frame |
c.2132-2A>G; p.?; 22:41147835-41147835 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.6796_6798delCAG; p.Q2268delQ; 22:41178507-41178509 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - In frame |
c.6796_6798delCAG; p.Q2268delQ; 22:41178507-41178509 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - In frame |
c.6796_6798delCAG; p.Q2268delQ; 22:41178507-41178509 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - In frame |
c.6796_6798delCAG; p.Q2268delQ; 22:41178507-41178509 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - In frame |
c.6796_6798delCAG; p.Q2268delQ; 22:41178507-41178509 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - In frame |
c.6796_6798delCAG; p.Q2268delQ; 22:41178507-41178509 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - In frame |
c.6796_6798delCAG; p.Q2268delQ; 22:41178507-41178509 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - In frame |
c.4114T>C; p.C1372R; 22:41168809-41168809 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.3039A>G; p.E1013E; 22:41152247-41152247 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4933C>T; p.R1645*; 22:41176400-41176400 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2250C>T; p.G750G; 22:41149046-41149046 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3039A>G; p.E1013E; 22:41152247-41152247 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3039A>G; p.E1013E; 22:41152247-41152247 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4949C>A; p.S1650Y; 22:41176416-41176416 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.6883C>A; p.Q2295K; 22:41178594-41178594 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.6883C>A; p.Q2295K; 22:41178594-41178594 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.4933C>T; p.R1645*; 22:41176400-41176400 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.419C>T; p.T140I; 22:41117511-41117511 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.4518T>C; p.G1506G; 22:41172564-41172564 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3591-6C>T; p.?; 22:41160636-41160636 |
ovary | other; neoplasm | Unknown |
c.6970_6971insC; p.H2324fs*55; 22:41178681-41178682 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.4352A>T; p.H1451L; 22:41170471-41170471 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.6970_6971insC; p.H2324fs*55; 22:41178681-41178682 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1145G>A; p.C382Y; 22:41127725-41127725 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4352A>T; p.H1451L; 22:41170471-41170471 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4352A>T; p.H1451L; 22:41170471-41170471 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.6970_6971insC; p.H2324fs*55; 22:41178681-41178682 |
stomach | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.4310C>T; p.A1437V; 22:41170429-41170429 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1139C>T; p.T380I; 22:41127719-41127719 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.4241A>G; p.Y1414C; 22:41169571-41169571 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.4241A>G; p.Y1414C; 22:41169571-41169571 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.4241A>G; p.Y1414C; 22:41169571-41169571 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1781C>T; p.T594M; 22:41140160-41140160 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4368G>C; p.K1456N; 22:41170487-41170487 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4241A>G; p.Y1414C; 22:41169571-41169571 |
ovary | carcinoma; adenocarcinoma | Substitution - Missense |
c.4241A>G; p.Y1414C; 22:41169571-41169571 |
oesophagus; upper_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4241A>G; p.Y1414C; 22:41169571-41169571 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4241A>G; p.Y1414C; 22:41169571-41169571 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4241A>G; p.Y1414C; 22:41169571-41169571 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4241A>G; p.Y1414C; 22:41169571-41169571 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4241A>G; p.Y1414C; 22:41169571-41169571 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3442_3447delGTCTTT; p.V1148_F1149delVF; 22:41157349-41157354 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; follicular_lymphoma | Deletion - In frame |
c.394A>T; p.T132S; 22:41117486-41117486 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.1551T>A; p.N517K; 22:41135835-41135835 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.4111C>T; p.L1371L; 22:41168806-41168806 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.3442_3447delGTCTTT; p.V1148_F1149delVF; 22:41157349-41157354 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; follicular_lymphoma | Deletion - In frame |
c.4399T>A; p.Y1467N; 22:41170518-41170518 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.4893C>T; p.L1631L; 22:41176360-41176360 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.4399T>A; p.Y1467N; 22:41170518-41170518 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.4399T>A; p.Y1467N; 22:41170518-41170518 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.6160C>T; p.L2054F; 22:41177871-41177871 |
skin | malignant_melanoma | Substitution - Missense |
c.2789C>T; p.P930L; 22:41150170-41150170 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4400A>G; p.Y1467C; 22:41170519-41170519 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.1436A>C; p.Q479P; 22:41131541-41131541 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5030_5036delTGGAGAC; p.V1677fs*30; 22:41176497-41176503 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.2773C>A; p.P925T; 22:41150154-41150154 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.3667C>T; p.Q1223*; 22:41160718-41160718 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Nonsense |
c.3124G>A; p.G1042R; 22:41152332-41152332 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3831G>T; p.K1277N; 22:41166623-41166623 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.6174C>G; p.L2058L; 22:41177885-41177885 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.3038A>G; p.E1013G; 22:41152246-41152246 |
breast | carcinoma | Substitution - Missense |
c.3038A>G; p.E1013G; 22:41152246-41152246 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.980C>T; p.A327V; 22:41127560-41127560 |
breast | carcinoma | Substitution - Missense |
c.1651C>T; p.P551S; 22:41137681-41137681 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3591_3728del138; p.Y1198_L1243del; 22:41160642-41162779 |
breast | carcinoma | Deletion - In frame |
c.1651C>T; p.P551S; 22:41137681-41137681 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.95-2A>G; p.?; 22:41117185-41117185 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.4186T>C; p.S1396P; 22:41169516-41169516 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2512C>A; p.R838S; 22:41149893-41149893 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1702C>T; p.R568W; 22:41137732-41137732 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2840T>C; p.I947T; 22:41151855-41151855 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.3256A>G; p.I1086V; 22:41155108-41155108 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.2645C>G; p.P882R; 22:41150026-41150026 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.4183_4184delAT; p.S1396fs*4; 22:41169513-41169514 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.6626_6637del12; p.N2209_Q2213>K; 22:41178337-41178348 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Complex - deletion inframe |
c.1169T>G; p.V390G; 22:41129890-41129890 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1169T>G; p.V390G; 22:41129890-41129890 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.6626_6637del12; p.N2209_Q2213>K; 22:41178337-41178348 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Complex - deletion inframe |
c.6856C>A; p.P2286T; 22:41178567-41178567 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.6856C>A; p.P2286T; 22:41178567-41178567 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6626_6637del12; p.N2209_Q2213>K; 22:41178337-41178348 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Complex - deletion inframe |
c.4879C>T; p.R1627W; 22:41176346-41176346 |
skin | malignant_melanoma | Substitution - Missense |
c.4060C>T; p.P1354S; 22:41168755-41168755 |
skin | malignant_melanoma | Substitution - Missense |
c.6644A>G; p.Q2215R; 22:41178355-41178355 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4879C>T; p.R1627W; 22:41176346-41176346 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.4879C>T; p.R1627W; 22:41176346-41176346 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.4879C>T; p.R1627W; 22:41176346-41176346 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4710A>G; p.K1570K; 22:41173715-41173715 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4879C>T; p.R1627W; 22:41176346-41176346 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.4879C>T; p.R1627W; 22:41176346-41176346 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4879C>T; p.R1627W; 22:41176346-41176346 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3127C>T; p.Q1043*; 22:41152335-41152335 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.4025+1G>A; p.?; 22:41168600-41168600 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Unknown |
c.1879-1G>A; p.?; 22:41141047-41141047 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Unknown |
c.936G>T; p.Q312H; 22:41127516-41127516 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4879C>T; p.R1627W; 22:41176346-41176346 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1879-1G>A; p.?; 22:41141047-41141047 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Unknown |
c.1511G>T; p.R504L; 22:41131616-41131616 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4710A>G; p.K1570K; 22:41173715-41173715 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4880G>A; p.R1627Q; 22:41176347-41176347 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4879C>T; p.R1627W; 22:41176346-41176346 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4710A>G; p.K1570K; 22:41173715-41173715 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1806_1807insA; p.R603fs*14; 22:41140185-41140186 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.5331C>T; p.G1777G; 22:41177042-41177042 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4319C>T; p.P1440L; 22:41170438-41170438 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6023C>T; p.S2008F; 22:41177734-41177734 |
breast | carcinoma | Substitution - Missense |
c.4286+1G>T; p.?; 22:41169617-41169617 |
salivary_gland | carcinoma; adenoid_cystic_carcinoma | Unknown |
c.4319C>T; p.P1440L; 22:41170438-41170438 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1784C>T; p.P595L; 22:41140163-41140163 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4319C>T; p.P1440L; 22:41170438-41170438 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.6489C>T; p.P2163P; 22:41178200-41178200 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.6489C>T; p.P2163P; 22:41178200-41178200 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.6616G>T; p.A2206S; 22:41178327-41178327 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1203delA; p.H402fs*29; 22:41129924-41129924 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.3729-2A>T; p.?; 22:41164051-41164051 |
large_intestine; caecum | carcinoma; adenocarcinoma | Unknown |
c.6662C>T; p.P2221L; 22:41178373-41178373 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6662C>T; p.P2221L; 22:41178373-41178373 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1738C>T; p.R580*; 22:41137768-41137768 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1501_1502insG; p.Q501fs*12; 22:41131606-41131607 |
breast | carcinoma | Insertion - Frameshift |
c.1738C>T; p.R580*; 22:41137768-41137768 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4051G>T; p.E1351*; 22:41168746-41168746 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.4287-2A>T; p.?; 22:41170404-41170404 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Unknown |
c.7126C>A; p.L2376I; 22:41178837-41178837 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.5038C>T; p.R1680C; 22:41176505-41176505 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.748C>T; p.P250S; 22:41125882-41125882 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.4863C>A; p.C1621*; 22:41176330-41176330 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.4154G>T; p.C1385F; 22:41168849-41168849 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.5640C>A; p.P1880P; 22:41177351-41177351 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4154G>T; p.C1385F; 22:41168849-41168849 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4636delA; p.N1547fs*17; 22:41173641-41173641 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Deletion - Frameshift |
c.2779_2780insC; p.T928fs*21; 22:41150160-41150161 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.6367G>T; p.G2123W; 22:41178078-41178078 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4154G>T; p.C1385F; 22:41168849-41168849 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.187C>T; p.Q63*; 22:41117279-41117279 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Nonsense |
c.1268A>C; p.K423T; 22:41129989-41129989 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4123G>C; p.G1375R; 22:41168818-41168818 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1268A>C; p.K423T; 22:41129989-41129989 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3798G>A; p.W1266*; 22:41164122-41164122 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.6907C>T; p.L2303F; 22:41178618-41178618 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6226G>T; p.A2076S; 22:41177937-41177937 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1759C>T; p.L587F; 22:41137789-41137789 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.726_729+1delTAAGG; p.?; 22:41117818-41117822 |
liver | carcinoma | Unknown |
c.5599C>A; p.Q1867K; 22:41177310-41177310 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.7061C>T; p.A2354V; 22:41178772-41178772 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.4352A>G; p.H1451R; 22:41170471-41170471 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.6969C>T; p.P2323P; 22:41178680-41178680 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2245A>G; p.M749V; 22:41149041-41149041 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3806+8T>G; p.?; 22:41164138-41164138 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.6250T>G; p.F2084V; 22:41177961-41177961 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.550C>T; p.Q184*; 22:41117642-41117642 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3240C>T; p.D1080D; 22:41155092-41155092 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.4115G>A; p.C1372Y; 22:41168810-41168810 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4154G>A; p.C1385Y; 22:41168849-41168849 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4154G>A; p.C1385Y; 22:41168849-41168849 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4874A>T; p.D1625V; 22:41176341-41176341 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma | Substitution - Missense |
c.1519A>G; p.S507G; 22:41131624-41131624 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1519A>G; p.S507G; 22:41131624-41131624 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.5061+2T>A; p.?; 22:41176530-41176530 |
breast | carcinoma | Unknown |
c.5848A>G; p.R1950G; 22:41177559-41177559 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1936G>C; p.E646Q; 22:41141105-41141105 |
breast | carcinoma; HER-positive_carcinoma | Substitution - Missense |
c.7012_7014delCAC; p.H2339delH; 22:41178723-41178725 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - In frame |
c.312G>A; p.M104I; 22:41117404-41117404 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.6819T>G; p.V2273V; 22:41178530-41178530 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2241G>A; p.P747P; 22:41147946-41147946 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6633C>A; p.F2211L; 22:41178344-41178344 |
NS | NS | Substitution - Missense |
c.2620C>T; p.Q874*; 22:41150001-41150001 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.4287-1G>C; p.?; 22:41170405-41170405 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Unknown |
c.2620C>T; p.Q874*; 22:41150001-41150001 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.2620C>T; p.Q874*; 22:41150001-41150001 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.4193T>C; p.L1398P; 22:41169523-41169523 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4377_4388del12; p.P1460_L1463delPKRL; 22:41170496-41170507 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Deletion - In frame |
c.4377_4388del12; p.P1460_L1463delPKRL; 22:41170496-41170507 |
urinary_tract; bladder | carcinoma | Deletion - In frame |
c.5630C>T; p.P1877L; 22:41177341-41177341 |
skin | malignant_melanoma | Substitution - Missense |
c.4886C>T; p.A1629V; 22:41176353-41176353 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4886C>T; p.A1629V; 22:41176353-41176353 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.97T>G; p.F33V; 22:41117189-41117189 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1078G>A; p.E360K; 22:41127658-41127658 |
skin | malignant_melanoma | Substitution - Missense |
c.6375C>A; p.H2125Q; 22:41178086-41178086 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4886C>T; p.A1629V; 22:41176353-41176353 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4886C>T; p.A1629V; 22:41176353-41176353 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.6949C>T; p.R2317W; 22:41178660-41178660 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.3284G>T; p.S1095I; 22:41157191-41157191 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.6922C>T; p.R2308C; 22:41178633-41178633 |
liver | carcinoma | Substitution - Missense |
c.924G>A; p.P308P; 22:41127504-41127504 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1898T>C; p.L633P; 22:41141067-41141067 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.764C>T; p.S255L; 22:41125898-41125898 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.899C>T; p.P300L; 22:41126033-41126033 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.4312T>C; p.C1438R; 22:41170431-41170431 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.6584A>G; p.Q2195R; 22:41178295-41178295 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma | Substitution - Missense |
c.3358G>T; p.D1120Y; 22:41157265-41157265 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.4347T>G; p.H1449Q; 22:41170466-41170466 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.4578G>C; p.E1526D; 22:41172624-41172624 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.5807C>T; p.A1936V; 22:41177518-41177518 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.181delA; p.I61fs*55; 22:41117273-41117273 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.6262C>T; p.R2088W; 22:41177973-41177973 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.211G>C; p.V71L; 22:41117303-41117303 |
pancreas | carcinoma | Substitution - Missense |
c.3548G>A; p.C1183Y; 22:41158458-41158458 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3142+5G>A; p.?; 22:41152355-41152355 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.3142+5G>A; p.?; 22:41152355-41152355 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.2692C>T; p.Q898*; 22:41150073-41150073 |
autonomic_ganglia | neuroblastoma | Substitution - Nonsense |
c.2282A>G; p.Q761R; 22:41149078-41149078 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2461C>T; p.Q821*; 22:41149842-41149842 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Nonsense |
c.2282A>G; p.Q761R; 22:41149078-41149078 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.5810A>G; p.E1937G; 22:41177521-41177521 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1810C>G; p.R604G; 22:41140189-41140189 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.5482C>T; p.L1828F; 22:41177193-41177193 |
skin | malignant_melanoma | Substitution - Missense |
c.2668A>C; p.T890P; 22:41150049-41150049 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.4365G>C; p.Q1455H; 22:41170484-41170484 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.378G>A; p.M126I; 22:41117470-41117470 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3377A>G; p.N1126S; 22:41157284-41157284 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1927G>A; p.E643K; 22:41141096-41141096 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.3135G>T; p.K1045N; 22:41152343-41152343 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4408delA; p.M1470fs*26; 22:41170527-41170527 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.4408delA; p.M1470fs*26; 22:41170527-41170527 |
stomach | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.4408delA; p.M1470fs*26; 22:41170527-41170527 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.4710A>T; p.K1570N; 22:41173715-41173715 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.6880C>A; p.L2294I; 22:41178591-41178591 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1579C>T; p.L527F; 22:41135863-41135863 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4408delA; p.M1470fs*26; 22:41170527-41170527 |
stomach | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.4408delA; p.M1470fs*26; 22:41170527-41170527 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Deletion - Frameshift |
c.4453G>T; p.D1485Y; 22:41172499-41172499 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4795C>T; p.R1599C; 22:41176262-41176262 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4453-1G>A; p.?; 22:41172498-41172498 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.5368T>G; p.C1790G; 22:41177079-41177079 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1681C>T; p.Q561*; 22:41137711-41137711 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.4795C>T; p.R1599C; 22:41176262-41176262 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5368T>G; p.C1790G; 22:41177079-41177079 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.4316C>A; p.P1439Q; 22:41170435-41170435 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.5380A>G; p.K1794E; 22:41177091-41177091 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.4467_4468insG; p.A1490fs*3; 22:41172513-41172514 |
endometrium | carcinoma; endometrioid_carcinoma | Insertion - Frameshift |
c.1019A>T; p.Q340L; 22:41127599-41127599 |
salivary_gland; parotid | carcinoma; acinic_cell_carcinoma | Substitution - Missense |
c.4600A>G; p.S1534G; 22:41172646-41172646 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Substitution - Missense |
c.193C>T; p.Q65*; 22:41117285-41117285 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.193C>T; p.Q65*; 22:41117285-41117285 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.193C>T; p.Q65*; 22:41117285-41117285 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.4505C>T; p.P1502L; 22:41172551-41172551 |
oesophagus; upper_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2512C>T; p.R838C; 22:41149893-41149893 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5359G>T; p.A1787S; 22:41177070-41177070 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.4505C>T; p.P1502L; 22:41172551-41172551 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2512C>T; p.R838C; 22:41149893-41149893 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4505C>T; p.P1502L; 22:41172551-41172551 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4585C>T; p.R1529*; 22:41172631-41172631 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.2456G>A; p.C819Y; 22:41149837-41149837 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.4066C>T; p.R1356*; 22:41168761-41168761 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.3602G>A; p.C1201Y; 22:41160653-41160653 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4145G>A; p.G1382D; 22:41168840-41168840 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1138A>G; p.T380A; 22:41127718-41127718 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1099_1100CC>TT; p.P367F; 22:41127679-41127680 |
skin | malignant_melanoma | Substitution - Missense |
c.3602G>A; p.C1201Y; 22:41160653-41160653 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.3602G>A; p.C1201Y; 22:41160653-41160653 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3602G>A; p.C1201Y; 22:41160653-41160653 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.6950G>T; p.R2317L; 22:41178661-41178661 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3602G>A; p.C1201Y; 22:41160653-41160653 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.4066C>T; p.R1356*; 22:41168761-41168761 |
breast | carcinoma | Substitution - Nonsense |
c.4066C>T; p.R1356*; 22:41168761-41168761 |
central_nervous_system; brain | glioma | Substitution - Nonsense |
c.4195G>T; p.D1399Y; 22:41169525-41169525 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.4195G>T; p.D1399Y; 22:41169525-41169525 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3566C>T; p.A1189V; 22:41158476-41158476 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.4195G>T; p.D1399Y; 22:41169525-41169525 |
oesophagus | carcinoma | Substitution - Missense |
c.4195G>T; p.D1399Y; 22:41169525-41169525 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1521C>T; p.S507S; 22:41131626-41131626 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4195G>T; p.D1399Y; 22:41169525-41169525 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4195G>T; p.D1399Y; 22:41169525-41169525 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1521C>T; p.S507S; 22:41131626-41131626 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5711A>C; p.Q1904P; 22:41177422-41177422 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.4189T>G; p.Y1397D; 22:41169519-41169519 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1913A>G; p.Y638C; 22:41141082-41141082 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.5711A>C; p.Q1904P; 22:41177422-41177422 |
skin | malignant_melanoma | Substitution - Missense |
c.2532_2533insT; p.T845fs*64; 22:41149913-41149914 |
urinary_tract; bladder | carcinoma | Insertion - Frameshift |
c.38C>T; p.A13V; 22:41093042-41093042 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.4041A>G; p.G1347G; 22:41168736-41168736 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.4880G>T; p.R1627L; 22:41176347-41176347 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2482C>T; p.H828Y; 22:41149863-41149863 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4517G>T; p.G1506V; 22:41172563-41172563 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.3142+5G>A; p.?; 22:41152355-41152355 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.3142+5G>A; p.?; 22:41152355-41152355 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.251T>C; p.L84S; 22:41117343-41117343 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6783G>A; p.Q2261Q; 22:41178494-41178494 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4508A>C; p.Y1503S; 22:41172554-41172554 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.769T>G; p.Y257D; 22:41125903-41125903 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2299C>T; p.Q767*; 22:41149095-41149095 |
breast | carcinoma | Substitution - Nonsense |
c.4173-2A>G; p.?; 22:41169501-41169501 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.2299C>T; p.Q767*; 22:41149095-41149095 |
breast | carcinoma | Substitution - Nonsense |
c.1739G>A; p.R580Q; 22:41137769-41137769 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1739G>A; p.R580Q; 22:41137769-41137769 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4307G>T; p.W1436L; 22:41170426-41170426 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.620A>G; p.Y207C; 22:41117712-41117712 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1739G>A; p.R580Q; 22:41137769-41137769 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1739G>A; p.R580Q; 22:41137769-41137769 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1441C>T; p.P481S; 22:41131546-41131546 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3684A>C; p.K1228N; 22:41162735-41162735 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4617+1G>A; p.?; 22:41172664-41172664 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma | Unknown |
c.3360T>C; p.D1120D; 22:41157267-41157267 |
skin | malignant_melanoma | Substitution - coding silent |
c.4617+1G>A; p.?; 22:41172664-41172664 |
oesophagus | carcinoma | Unknown |
c.4617+1G>A; p.?; 22:41172664-41172664 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Unknown |
c.4714G>A; p.G1572R; 22:41173719-41173719 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Substitution - Missense |
c.1636G>A; p.E546K; 22:41137666-41137666 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.1369A>G; p.S457G; 22:41131474-41131474 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4617+1G>A; p.?; 22:41172664-41172664 |
liver | carcinoma | Unknown |
c.7102G>A; p.D2368N; 22:41178813-41178813 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1667_1668insT; p.M556fs*61; 22:41137697-41137698 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.1751T>C; p.V584A; 22:41137781-41137781 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2743C>T; p.R915C; 22:41150124-41150124 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.1664C>T; p.P555L; 22:41137694-41137694 |
skin | malignant_melanoma | Substitution - Missense |
c.3977T>C; p.V1326A; 22:41168551-41168551 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1190G>A; p.R397Q; 22:41129911-41129911 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6523A>C; p.M2175L; 22:41178234-41178234 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Substitution - Missense |
c.6523A>C; p.M2175L; 22:41178234-41178234 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.6523A>C; p.M2175L; 22:41178234-41178234 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2518C>A; p.P840T; 22:41149899-41149899 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2405C>T; p.P802L; 22:41149786-41149786 |
kidney | carcinoma; renal_cell_carcinoma | Substitution - Missense |
c.5412G>A; p.P1804P; 22:41177123-41177123 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.2845G>T; p.G949*; 22:41151860-41151860 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.6523A>G; p.M2175V; 22:41178234-41178234 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3695C>T; p.S1232F; 22:41162746-41162746 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4540_4541GA>AT; p.E1514I; 22:41172586-41172587 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6788G>A; p.R2263Q; 22:41178499-41178499 |
liver | carcinoma | Substitution - Missense |
c.20A>G; p.E7G; 22:41093024-41093024 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.6762T>G; p.G2254G; 22:41178473-41178473 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1785G>A; p.P595P; 22:41140164-41140164 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4925C>T; p.S1642F; 22:41176392-41176392 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.5217C>G; p.I1739M; 22:41176928-41176928 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4448A>G; p.Y1483C; 22:41170567-41170567 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |