General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information |
|
---|---|
Gene ID | 9353 |
Name | SLIT2 |
Synonymous | slit homolog 2 (Drosophila);SLIT2;slit homolog 2 (Drosophila) |
Definition | slit homolog 2 protein |
Position | 4p15.2 |
Gene Type | protein-coding |
Mutation summary: | Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72 |
Mutation summary in protein domains | Top |
The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers | Top |
Loss of Function mutations compare to missense mutations | Top |
The ratio of the loss-of-function mutations over missense mutations is 0.11. |
The copy number variations for various cancers | Top |
The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) |
Site |
Histology |
Mutation Type |
---|---|---|---|
c.586A>T; p.N196Y; 4:20486246-20486246 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3292delT; p.Y1098fs*43; 4:20595806-20595806 |
lung | carcinoma; small_cell_carcinoma | Deletion - Frameshift |
c.1367G>A; p.R456H; 4:20524106-20524106 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.3220G>C; p.D1074H; 4:20595734-20595734 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.680G>A; p.R227K; 4:20488887-20488887 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.2026G>A; p.G676R; 4:20541502-20541502 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.931A>G; p.T311A; 4:20510511-20510511 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.796C>T; p.P266S; 4:20491781-20491781 |
skin | malignant_melanoma | Substitution - Missense |
c.3135_3136CC>TT; p.P1046S; 4:20589690-20589691 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.967T>C; p.Y323H; 4:20510547-20510547 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.891T>C; p.N297N; 4:20491876-20491876 |
skin | malignant_melanoma | Substitution - coding silent |
c.1557C>T; p.C519C; 4:20529043-20529043 |
prostate | adenoma | Substitution - coding silent |
c.1249T>G; p.S417A; 4:20523878-20523878 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3728T>C; p.V1243A; 4:20610048-20610048 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3089-7G>A; p.?; 4:20589637-20589637 |
liver | carcinoma | Unknown |
c.1964C>A; p.S655Y; 4:20539572-20539572 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.4114A>T; p.N1372Y; 4:20617176-20617176 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1042C>T; p.R348C; 4:20511121-20511121 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1042C>T; p.R348C; 4:20511121-20511121 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1472A>G; p.D491G; 4:20528958-20528958 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1042C>T; p.R348C; 4:20511121-20511121 |
ovary | other; neoplasm | Substitution - Missense |
c.1042C>T; p.R348C; 4:20511121-20511121 |
ovary | other; neoplasm | Substitution - Missense |
c.3640C>T; p.R1214C; 4:20598343-20598343 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2909G>A; p.G970E; 4:20567576-20567576 |
skin | malignant_melanoma | Substitution - Missense |
c.1018G>A; p.A340T; 4:20511097-20511097 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3234C>T; p.D1078D; 4:20595748-20595748 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2501G>T; p.G834V; 4:20550838-20550838 |
pancreas | carcinoma | Substitution - Missense |
c.3750G>A; p.Q1250Q; 4:20610070-20610070 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.3234C>T; p.D1078D; 4:20595748-20595748 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.903C>A; p.T301T; 4:20491888-20491888 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3234C>T; p.D1078D; 4:20595748-20595748 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.2501G>T; p.G834V; 4:20550838-20550838 |
pancreas | carcinoma | Substitution - Missense |
c.3750G>A; p.Q1250Q; 4:20610070-20610070 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.3234C>T; p.D1078D; 4:20595748-20595748 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3750G>A; p.Q1250Q; 4:20610070-20610070 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1430G>A; p.R477H; 4:20524169-20524169 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1239G>A; p.K413K; 4:20523868-20523868 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2501G>T; p.G834V; 4:20550838-20550838 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.2095G>T; p.E699*; 4:20541571-20541571 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2246C>T; p.P749L; 4:20542596-20542596 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2245_2246CC>AT; p.P749>?; 4:20542595-20542596 |
large_intestine; colon | carcinoma; adenocarcinoma | Complex |
c.3750G>A; p.Q1250Q; 4:20610070-20610070 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.4348+4A>C; p.?; 4:20617654-20617654 |
oesophagus | carcinoma; adenocarcinoma | Unknown |
c.1234G>A; p.A412T; 4:20523863-20523863 |
NS | NS | Substitution - Missense |
c.52G>T; p.A18S; 4:20253867-20253867 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2615A>G; p.D872G; 4:20553858-20553858 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2837C>T; p.P946L; 4:20567373-20567373 |
skin | malignant_melanoma | Substitution - Missense |
c.2837C>T; p.P946L; 4:20567373-20567373 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.902C>A; p.T301N; 4:20491887-20491887 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2837C>T; p.P946L; 4:20567373-20567373 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.4087A>G; p.M1363V; 4:20617149-20617149 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.3827A>G; p.D1276G; 4:20610147-20610147 |
liver | carcinoma | Substitution - Missense |
c.3662C>A; p.T1221N; 4:20598365-20598365 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.3152C>G; p.S1051*; 4:20589707-20589707 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4365G>A; p.G1455G; 4:20618784-20618784 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1032C>T; p.F344F; 4:20511111-20511111 |
skin; arm | malignant_melanoma | Substitution - coding silent |
c.1920T>C; p.N640N; 4:20539528-20539528 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1691A>C; p.N564T; 4:20533574-20533574 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.3474A>T; p.K1158N; 4:20596568-20596568 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3176G>A; p.G1059E; 4:20589731-20589731 |
skin | malignant_melanoma | Substitution - Missense |
c.3618C>T; p.I1206I; 4:20598321-20598321 |
skin; shoulder | malignant_melanoma | Substitution - coding silent |
c.2446A>C; p.I816L; 4:20549085-20549085 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2106C>A; p.I702I; 4:20541582-20541582 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1674T>C; p.P558P; 4:20532044-20532044 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4161C>T; p.P1387P; 4:20617463-20617463 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2143+2T>C; p.?; 4:20541621-20541621 |
lung | carcinoma; adenocarcinoma | Unknown |
c.4161C>T; p.P1387P; 4:20617463-20617463 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.141C>A; p.R47R; 4:20253956-20253956 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1176T>C; p.F392F; 4:20523805-20523805 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.4110G>A; p.R1370R; 4:20617172-20617172 |
skin | malignant_melanoma | Substitution - coding silent |
c.1675C>T; p.Q559*; 4:20532045-20532045 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2998G>A; p.D1000N; 4:20568914-20568914 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4126C>T; p.L1376F; 4:20617188-20617188 |
skin | malignant_melanoma | Substitution - Missense |
c.4481C>G; p.P1494R; 4:20618900-20618900 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4363G>T; p.G1455W; 4:20618782-20618782 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2494C>G; p.L832V; 4:20550831-20550831 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.340C>A; p.H114N; 4:20268826-20268826 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.221_222insT; p.A76fs*4; 4:20256713-20256714 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.2464G>A; p.D822N; 4:20549103-20549103 |
skin | malignant_melanoma | Substitution - Missense |
c.2669G>A; p.G890E; 4:20553912-20553912 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3125A>T; p.Q1042L; 4:20589680-20589680 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1537G>A; p.E513K; 4:20529023-20529023 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1477C>T; p.R493*; 4:20528963-20528963 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.3349A>C; p.M1117L; 4:20596443-20596443 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4073G>T; p.C1358F; 4:20617135-20617135 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.4162A>G; p.I1388V; 4:20617464-20617464 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.824C>T; p.A275V; 4:20491809-20491809 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2103C>T; p.P701P; 4:20541579-20541579 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.3043G>A; p.D1015N; 4:20568959-20568959 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1292C>T; p.P431L; 4:20524031-20524031 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1644G>T; p.L548F; 4:20532014-20532014 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1258C>T; p.R420W; 4:20523887-20523887 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4215C>T; p.L1405L; 4:20617517-20617517 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1112T>C; p.L371P; 4:20519435-20519435 |
breast | carcinoma | Substitution - Missense |
c.4260G>T; p.K1420N; 4:20617562-20617562 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1433delG; p.C478fs*19; 4:20524172-20524172 |
breast | carcinoma | Deletion - Frameshift |
c.3127G>A; p.D1043N; 4:20589682-20589682 |
skin | malignant_melanoma | Substitution - Missense |
c.3813C>T; p.S1271S; 4:20610133-20610133 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1488A>C; p.L496F; 4:20528974-20528974 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.3260A>C; p.N1087T; 4:20595774-20595774 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1796A>T; p.H599L; 4:20533679-20533679 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1904T>A; p.L635H; 4:20539512-20539512 |
skin | malignant_melanoma | Substitution - Missense |
c.3831T>A; p.S1277S; 4:20610151-20610151 |
skin | malignant_melanoma | Substitution - coding silent |
c.849C>T; p.I283I; 4:20491834-20491834 |
skin | malignant_melanoma | Substitution - coding silent |
c.849C>T; p.I283I; 4:20491834-20491834 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.849C>T; p.I283I; 4:20491834-20491834 |
skin | malignant_melanoma | Substitution - coding silent |
c.2539G>A; p.D847N; 4:20550876-20550876 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2539G>A; p.D847N; 4:20550876-20550876 |
skin; shoulder | malignant_melanoma | Substitution - Missense |
c.2788G>A; p.D930N; 4:20567324-20567324 |
skin | malignant_melanoma | Substitution - Missense |
c.2539G>A; p.D847N; 4:20550876-20550876 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.90G>A; p.A30A; 4:20253905-20253905 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.673C>T; p.R225C; 4:20488880-20488880 |
breast | carcinoma | Substitution - Missense |
c.127G>C; p.G43R; 4:20253942-20253942 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4103A>T; p.D1368V; 4:20617165-20617165 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2438T>C; p.L813P; 4:20549077-20549077 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2824C>T; p.R942*; 4:20567360-20567360 |
lung | carcinoma; small_cell_carcinoma | Substitution - Nonsense |
c.467+2T>C; p.?; 4:20467825-20467825 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.782A>G; p.Q261R; 4:20491767-20491767 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1400G>T; p.R467I; 4:20524139-20524139 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3789C>T; p.I1263I; 4:20610109-20610109 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1507G>A; p.D503N; 4:20528993-20528993 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.713G>A; p.G238D; 4:20488920-20488920 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4155C>T; p.C1385C; 4:20617457-20617457 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3789C>T; p.I1263I; 4:20610109-20610109 |
skin | malignant_melanoma | Substitution - coding silent |
c.2932G>T; p.E978*; 4:20567599-20567599 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.4361G>A; p.R1454Q; 4:20618780-20618780 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.2629G>A; p.E877K; 4:20553872-20553872 |
skin | malignant_melanoma | Substitution - Missense |
c.1096A>G; p.S366G; 4:20519419-20519419 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1778G>C; p.R593P; 4:20533661-20533661 |
kidney | other; neoplasm | Substitution - Missense |
c.4078G>A; p.E1360K; 4:20617140-20617140 |
skin | malignant_melanoma | Substitution - Missense |
c.2211C>T; p.V737V; 4:20542561-20542561 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1983C>T; p.L661L; 4:20541459-20541459 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2500G>A; p.G834R; 4:20550837-20550837 |
skin | malignant_melanoma | Substitution - Missense |
c.483C>A; p.N161K; 4:20480731-20480731 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4281G>T; p.R1427S; 4:20617583-20617583 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3306C>T; p.C1102C; 4:20595820-20595820 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.3306C>T; p.C1102C; 4:20595820-20595820 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.30C>T; p.S10S; 4:20253845-20253845 |
skin | malignant_melanoma | Substitution - coding silent |
c.1993C>T; p.P665S; 4:20541469-20541469 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1364C>T; p.A455V; 4:20524103-20524103 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1723G>A; p.E575K; 4:20533606-20533606 |
skin | malignant_melanoma | Substitution - Missense |
c.3522T>G; p.P1174P; 4:20596616-20596616 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.305T>A; p.L102H; 4:20257921-20257921 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.3219C>T; p.C1073C; 4:20595733-20595733 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3219C>T; p.C1073C; 4:20595733-20595733 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2363G>A; p.R788K; 4:20548505-20548505 |
skin | malignant_melanoma | Substitution - Missense |
c.1723G>A; p.E575K; 4:20533606-20533606 |
skin | malignant_melanoma | Substitution - Missense |
c.1850G>A; p.R617Q; 4:20539458-20539458 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3147C>T; p.H1049H; 4:20589702-20589702 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2949-10T>C; p.?; 4:20568855-20568855 |
liver | carcinoma | Unknown |
c.1366C>T; p.R456C; 4:20524105-20524105 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3219C>T; p.C1073C; 4:20595733-20595733 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3147C>T; p.H1049H; 4:20589702-20589702 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.3147C>T; p.H1049H; 4:20589702-20589702 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1381C>T; p.R461C; 4:20524120-20524120 |
pancreas | carcinoma | Substitution - Missense |
c.3520C>T; p.P1174S; 4:20596614-20596614 |
skin | malignant_melanoma | Substitution - Missense |
c.3520C>T; p.P1174S; 4:20596614-20596614 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1499G>C; p.C500S; 4:20528985-20528985 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1115T>G; p.F372C; 4:20519438-20519438 |
breast | carcinoma | Substitution - Missense |
c.1381C>T; p.R461C; 4:20524120-20524120 |
prostate | carcinoma | Substitution - Missense |
c.276C>T; p.S92S; 4:20257892-20257892 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.3520C>T; p.P1174S; 4:20596614-20596614 |
skin | malignant_melanoma | Substitution - Missense |
c.2490-2A>T; p.?; 4:20550825-20550825 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Unknown |
c.2926G>A; p.E976K; 4:20567593-20567593 |
skin | malignant_melanoma | Substitution - Missense |
c.3166A>G; p.T1056A; 4:20589721-20589721 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1607C>T; p.A536V; 4:20529093-20529093 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4074C>T; p.C1358C; 4:20617136-20617136 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4482G>A; p.P1494P; 4:20618901-20618901 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2490-2A>T; p.?; 4:20550825-20550825 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Unknown |
c.2490-2A>T; p.?; 4:20550825-20550825 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Unknown |
c.3868G>A; p.V1290M; 4:20616930-20616930 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.965C>T; p.P322L; 4:20510545-20510545 |
skin | malignant_melanoma | Substitution - Missense |
c.758G>A; p.R253Q; 4:20488965-20488965 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2986G>A; p.E996K; 4:20568902-20568902 |
skin | malignant_melanoma | Substitution - Missense |
c.2986G>A; p.E996K; 4:20568902-20568902 |
skin | malignant_melanoma | Substitution - Missense |
c.796_797CC>TT; p.P266F; 4:20491781-20491782 |
skin; scalp | malignant_melanoma | Substitution - Missense |
c.4170G>A; p.A1390A; 4:20617472-20617472 |
ovary | other; neoplasm | Substitution - coding silent |
c.161C>G; p.P54R; 4:20253976-20253976 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4013A>T; p.K1338M; 4:20617075-20617075 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3625G>T; p.E1209*; 4:20598328-20598328 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1819A>G; p.S607G; 4:20533702-20533702 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2442A>T; p.R814S; 4:20549081-20549081 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.784T>C; p.S262P; 4:20491769-20491769 |
skin | malignant_melanoma | Substitution - Missense |
c.2487A>T; p.L829F; 4:20549126-20549126 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1506G>A; p.A502A; 4:20528992-20528992 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1008C>A; p.I336I; 4:20511087-20511087 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3745G>A; p.D1249N; 4:20610065-20610065 |
skin | malignant_melanoma | Substitution - Missense |
c.1263C>T; p.A421A; 4:20523892-20523892 |
skin | malignant_melanoma | Substitution - coding silent |
c.3296C>T; p.T1099M; 4:20595810-20595810 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1047T>C; p.S349S; 4:20511126-20511126 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.4512C>T; p.F1504F; 4:20618931-20618931 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4512C>T; p.F1504F; 4:20618931-20618931 |
skin | malignant_melanoma | Substitution - coding silent |
c.3502G>A; p.E1168K; 4:20596596-20596596 |
pancreas | carcinoid-endocrine_tumour | Substitution - Missense |
c.4512C>T; p.F1504F; 4:20618931-20618931 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4512C>T; p.F1504F; 4:20618931-20618931 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1233C>T; p.I411I; 4:20523862-20523862 |
skin | malignant_melanoma | Substitution - coding silent |
c.3245_3247delACA; p.N1083delN; 4:20595759-20595761 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - In frame |
c.4512C>T; p.F1504F; 4:20618931-20618931 |
skin | malignant_melanoma | Substitution - coding silent |
c.1118C>T; p.S373F; 4:20519441-20519441 |
skin | malignant_melanoma | Substitution - Missense |
c.1118C>T; p.S373F; 4:20519441-20519441 |
skin | malignant_melanoma | Substitution - Missense |
c.1118C>T; p.S373F; 4:20519441-20519441 |
skin | malignant_melanoma | Substitution - Missense |
c.1770G>A; p.T590T; 4:20533653-20533653 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2851-1G>A; p.?; 4:20567517-20567517 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.1118C>T; p.S373F; 4:20519441-20519441 |
skin | malignant_melanoma | Substitution - Missense |
c.4485G>T; p.L1495L; 4:20618904-20618904 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1118C>T; p.S373F; 4:20519441-20519441 |
skin | malignant_melanoma | Substitution - Missense |
c.1118C>T; p.S373F; 4:20519441-20519441 |
skin | malignant_melanoma | Substitution - Missense |
c.1770G>A; p.T590T; 4:20533653-20533653 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1307G>T; p.C436F; 4:20524046-20524046 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1511T>A; p.L504Q; 4:20528997-20528997 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.790A>G; p.M264V; 4:20491775-20491775 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4348G>T; p.E1450*; 4:20617650-20617650 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.4577G>C; p.R1526T; 4:20618996-20618996 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.134C>T; p.A45V; 4:20253949-20253949 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1048C>G; p.L350V; 4:20511127-20511127 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2777C>T; p.P926L; 4:20567313-20567313 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.213G>A; p.T71T; 4:20256705-20256705 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2777C>T; p.P926L; 4:20567313-20567313 |
skin; neck | malignant_melanoma | Substitution - Missense |
c.2373G>A; p.T791T; 4:20548515-20548515 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1572C>G; p.L524L; 4:20529058-20529058 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.213G>A; p.T71T; 4:20256705-20256705 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3262G>A; p.G1088R; 4:20595776-20595776 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.489C>T; p.I163I; 4:20480737-20480737 |
oesophagus | carcinoma | Substitution - coding silent |
c.144C>G; p.S48R; 4:20253959-20253959 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1261G>A; p.A421T; 4:20523890-20523890 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1621A>G; p.N541D; 4:20531991-20531991 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1585G>C; p.E529Q; 4:20529071-20529071 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2659G>C; p.A887P; 4:20553902-20553902 |
thyroid | carcinoma | Substitution - Missense |
c.3397G>T; p.G1133*; 4:20596491-20596491 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.324-1G>A; p.?; 4:20268809-20268809 |
skin; trunk | malignant_melanoma | Unknown |
c.1250C>T; p.S417L; 4:20523879-20523879 |
skin | malignant_melanoma | Substitution - Missense |
c.1205C>T; p.S402F; 4:20523834-20523834 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4574C>T; p.T1525M; 4:20618993-20618993 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.3345A>C; p.P1115P; 4:20596439-20596439 |
breast | carcinoma | Substitution - coding silent |
c.520C>T; p.L174F; 4:20480768-20480768 |
skin | malignant_melanoma | Substitution - Missense |
c.3297G>A; p.T1099T; 4:20595811-20595811 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2482C>T; p.R828*; 4:20549121-20549121 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2128T>C; p.F710L; 4:20541604-20541604 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2482C>T; p.R828*; 4:20549121-20549121 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1796A>G; p.H599R; 4:20533679-20533679 |
pancreas | carcinoma | Substitution - Missense |
c.2482C>T; p.R828*; 4:20549121-20549121 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2482C>T; p.R828*; 4:20549121-20549121 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2482C>T; p.R828*; 4:20549121-20549121 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2818T>G; p.F940V; 4:20567354-20567354 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2754G>A; p.K918K; 4:20567290-20567290 |
pancreas | carcinoma | Substitution - coding silent |
c.914T>C; p.I305T; 4:20491899-20491899 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2628G>A; p.S876S; 4:20553871-20553871 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3561+2T>A; p.?; 4:20596657-20596657 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Unknown |
c.3336G>C; p.E1112D; 4:20596430-20596430 |
skin | malignant_melanoma | Substitution - Missense |
c.3634C>T; p.R1212W; 4:20598337-20598337 |
skin | malignant_melanoma | Substitution - Missense |
c.3419T>A; p.I1140K; 4:20596513-20596513 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3634C>T; p.R1212W; 4:20598337-20598337 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.914T>C; p.I305T; 4:20491899-20491899 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3634C>T; p.R1212W; 4:20598337-20598337 |
skin | malignant_melanoma | Substitution - Missense |
c.3138C>A; p.P1046P; 4:20589693-20589693 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3397_3398GG>AA; p.G1133K; 4:20596491-20596492 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2372C>T; p.T791M; 4:20548514-20548514 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2372C>T; p.T791M; 4:20548514-20548514 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.278C>T; p.T93I; 4:20257894-20257894 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1830T>G; p.T610T; 4:20533713-20533713 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2948+4G>A; p.?; 4:20567619-20567619 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Unknown |
c.2995G>A; p.V999I; 4:20568911-20568911 |
pancreas | carcinoma | Substitution - Missense |
c.1126C>T; p.L376F; 4:20519449-20519449 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4353C>A; p.I1451I; 4:20618772-20618772 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2995G>A; p.V999I; 4:20568911-20568911 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.992T>C; p.L331P; 4:20511071-20511071 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2562-3C>T; p.?; 4:20553802-20553802 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.4298A>G; p.Q1433R; 4:20617600-20617600 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.191G>A; p.G64E; 4:20256683-20256683 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3361C>T; p.R1121C; 4:20596455-20596455 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4121C>A; p.P1374H; 4:20617183-20617183 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.566G>T; p.R189I; 4:20486226-20486226 |
breast | carcinoma | Substitution - Missense |
c.2234T>G; p.L745W; 4:20542584-20542584 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4121C>A; p.P1374H; 4:20617183-20617183 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4220A>G; p.D1407G; 4:20617522-20617522 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.180-1G>C; p.?; 4:20256671-20256671 |
oesophagus | carcinoma; adenocarcinoma | Unknown |
c.1422G>T; p.K474N; 4:20524161-20524161 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3777G>A; p.G1259G; 4:20610097-20610097 |
skin | malignant_melanoma | Substitution - coding silent |
c.3781C>A; p.P1261T; 4:20610101-20610101 |
pancreas | carcinoma | Substitution - Missense |
c.4463G>A; p.G1488E; 4:20618882-20618882 |
skin | malignant_melanoma | Substitution - Missense |
c.3781C>A; p.P1261T; 4:20610101-20610101 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.3276A>C; p.T1092T; 4:20595790-20595790 |
thyroid | other; neoplasm | Substitution - coding silent |
c.628A>C; p.N210H; 4:20488835-20488835 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3348C>G; p.P1116P; 4:20596442-20596442 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1015_1016insT; p.A340fs*20; 4:20511094-20511095 |
autonomic_ganglia | neuroblastoma | Insertion - Frameshift |
c.610T>G; p.F204V; 4:20486270-20486270 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3331T>G; p.C1111G; 4:20596425-20596425 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3820A>G; p.N1274D; 4:20610140-20610140 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.3612C>T; p.D1204D; 4:20598315-20598315 |
skin | malignant_melanoma | Substitution - coding silent |
c.4272G>A; p.G1424G; 4:20617574-20617574 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.4068C>G; p.C1356W; 4:20617130-20617130 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.35C>T; p.S12L; 4:20253850-20253850 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4390A>C; p.K1464Q; 4:20618809-20618809 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3032C>A; p.S1011Y; 4:20568948-20568948 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3646C>T; p.R1216C; 4:20598349-20598349 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3032C>A; p.S1011Y; 4:20568948-20568948 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3573T>A; p.D1191E; 4:20598276-20598276 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.630C>T; p.N210N; 4:20488837-20488837 |
skin | malignant_melanoma | Substitution - coding silent |
c.2019T>C; p.A673A; 4:20541495-20541495 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1749T>A; p.G583G; 4:20533632-20533632 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.4370G>A; p.R1457K; 4:20618789-20618789 |
skin | malignant_melanoma | Substitution - Missense |
c.3085A>G; p.T1029A; 4:20569001-20569001 |
liver | carcinoma | Substitution - Missense |
c.4553A>T; p.K1518I; 4:20618972-20618972 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3593T>G; p.L1198R; 4:20598296-20598296 |
skin | malignant_melanoma | Substitution - Missense |
c.4C>T; p.R2C; 4:20253819-20253819 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4C>T; p.R2C; 4:20253819-20253819 |
pancreas | carcinoma | Substitution - Missense |
c.2160T>C; p.S720S; 4:20542510-20542510 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.4C>T; p.R2C; 4:20253819-20253819 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2892C>T; p.N964N; 4:20567559-20567559 |
skin | malignant_melanoma | Substitution - coding silent |
c.4C>T; p.R2C; 4:20253819-20253819 |
breast | carcinoma | Substitution - Missense |
c.4513G>A; p.E1505K; 4:20618932-20618932 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4513G>A; p.E1505K; 4:20618932-20618932 |
skin | malignant_melanoma | Substitution - Missense |
c.1053T>C; p.N351N; 4:20511132-20511132 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1829C>T; p.T610I; 4:20533712-20533712 |
central_nervous_system; thalamus | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2977G>A; p.E993K; 4:20568893-20568893 |
skin | malignant_melanoma | Substitution - Missense |
c.656G>T; p.W219L; 4:20488863-20488863 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.602T>G; p.L201R; 4:20486262-20486262 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1046C>T; p.S349F; 4:20511125-20511125 |
skin | malignant_melanoma | Substitution - Missense |
c.3200G>A; p.G1067E; 4:20595714-20595714 |
skin | malignant_melanoma | Substitution - Missense |
c.4378G>T; p.D1460Y; 4:20618797-20618797 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1694T>G; p.F565C; 4:20533577-20533577 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4299G>A; p.Q1433Q; 4:20617601-20617601 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.4333G>C; p.D1445H; 4:20617635-20617635 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.300G>T; p.Q100H; 4:20257916-20257916 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2700T>A; p.T900T; 4:20553943-20553943 |
skin | malignant_melanoma | Substitution - coding silent |
c.25C>T; p.L9L; 4:20253840-20253840 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1777C>T; p.R593C; 4:20533660-20533660 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1777C>T; p.R593C; 4:20533660-20533660 |
skin | malignant_melanoma | Substitution - Missense |
c.2726-1G>A; p.?; 4:20567261-20567261 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.1777C>T; p.R593C; 4:20533660-20533660 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2700T>A; p.T900T; 4:20553943-20553943 |
skin | malignant_melanoma | Substitution - coding silent |
c.3769G>A; p.D1257N; 4:20610089-20610089 |
skin | malignant_melanoma | Substitution - Missense |
c.1178A>G; p.Q393R; 4:20523807-20523807 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2144G>A; p.G715E; 4:20542494-20542494 |
skin | malignant_melanoma | Substitution - Missense |
c.2144G>A; p.G715E; 4:20542494-20542494 |
skin | malignant_melanoma | Substitution - Missense |
c.2144G>A; p.G715E; 4:20542494-20542494 |
skin | malignant_melanoma | Substitution - Missense |
c.2144G>A; p.G715E; 4:20542494-20542494 |
skin | malignant_melanoma | Substitution - Missense |
c.2782A>T; p.K928*; 4:20567318-20567318 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4557G>A; p.V1519V; 4:20618976-20618976 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.4418C>G; p.T1473R; 4:20618837-20618837 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3157T>A; p.C1053S; 4:20589712-20589712 |
breast | carcinoma | Substitution - Missense |
c.3230T>G; p.F1077C; 4:20595744-20595744 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1126C>A; p.L376I; 4:20519449-20519449 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1126C>A; p.L376I; 4:20519449-20519449 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.751C>G; p.Q251E; 4:20488958-20488958 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2007C>T; p.N669N; 4:20541483-20541483 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1966T>G; p.L656V; 4:20539574-20539574 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3226G>A; p.D1076N; 4:20595740-20595740 |
skin; upper_leg | malignant_melanoma | Substitution - Missense |
c.1084G>A; p.E362K; 4:20519407-20519407 |
skin | malignant_melanoma | Substitution - Missense |
c.468-10T>G; p.?; 4:20480706-20480706 |
stomach | carcinoma; diffuse_adenocarcinoma | Unknown |
c.1507G>T; p.D503Y; 4:20528993-20528993 |
breast | carcinoma | Substitution - Missense |
c.164G>A; p.R55H; 4:20253979-20253979 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3119G>A; p.C1040Y; 4:20589674-20589674 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1866G>A; p.G622G; 4:20539474-20539474 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.510A>G; p.A170A; 4:20480758-20480758 |
liver | carcinoma | Substitution - coding silent |
c.1897C>T; p.R633C; 4:20539505-20539505 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1131-3C>A; p.?; 4:20523757-20523757 |
liver | carcinoma | Unknown |
c.2623A>G; p.K875E; 4:20553866-20553866 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.613C>T; p.R205*; 4:20488820-20488820 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3136C>T; p.P1046S; 4:20589691-20589691 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.569T>G; p.L190R; 4:20486229-20486229 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1213G>A; p.D405N; 4:20523842-20523842 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1217A>G; p.N406S; 4:20523846-20523846 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2513C>T; p.S838F; 4:20550850-20550850 |
skin | malignant_melanoma | Substitution - Missense |
c.3892G>A; p.G1298R; 4:20616954-20616954 |
skin | malignant_melanoma | Substitution - Missense |
c.658C>T; p.L220F; 4:20488865-20488865 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1055C>T; p.S352L; 4:20511134-20511134 |
skin | malignant_melanoma | Substitution - Missense |
c.2110G>A; p.D704N; 4:20541586-20541586 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3546G>A; p.T1182T; 4:20596640-20596640 |
skin | malignant_melanoma | Substitution - coding silent |
c.3546G>A; p.T1182T; 4:20596640-20596640 |
skin | malignant_melanoma | Substitution - coding silent |
c.2144-8C>T; p.?; 4:20542486-20542486 |
prostate | carcinoma | Unknown |
c.4041G>A; p.Q1347Q; 4:20617103-20617103 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.1177C>T; p.Q393*; 4:20523806-20523806 |
skin | malignant_melanoma | Substitution - Nonsense |
c.3819G>A; p.L1273L; 4:20610139-20610139 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2165C>T; p.S722F; 4:20542515-20542515 |
skin | malignant_melanoma | Substitution - Missense |
c.3411C>T; p.I1137I; 4:20596505-20596505 |
skin | malignant_melanoma | Substitution - coding silent |
c.4387C>G; p.Q1463E; 4:20618806-20618806 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2165C>T; p.S722F; 4:20542515-20542515 |
skin | malignant_melanoma | Substitution - Missense |
c.1693T>A; p.F565I; 4:20533576-20533576 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1424A>C; p.K475T; 4:20524163-20524163 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3446C>T; p.P1149L; 4:20596540-20596540 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1289A>C; p.N430T; 4:20524028-20524028 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4134T>A; p.N1378K; 4:20617196-20617196 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.704A>G; p.Q235R; 4:20488911-20488911 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3900C>G; p.N1300K; 4:20616962-20616962 |
lung; middle_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.910G>A; p.E304K; 4:20491895-20491895 |
skin | malignant_melanoma | Substitution - Missense |
c.4542C>T; p.D1514D; 4:20618961-20618961 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1470A>G; p.E490E; 4:20528956-20528956 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.825C>T; p.A275A; 4:20491810-20491810 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2406G>T; p.Q802H; 4:20548548-20548548 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1470A>G; p.E490E; 4:20528956-20528956 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1645G>A; p.E549K; 4:20532015-20532015 |
skin | malignant_melanoma | Substitution - Missense |
c.2048G>T; p.R683I; 4:20541524-20541524 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.828C>T; p.A276A; 4:20491813-20491813 |
skin | malignant_melanoma | Substitution - coding silent |
c.2048G>T; p.R683I; 4:20541524-20541524 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3112G>A; p.D1038N; 4:20589667-20589667 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2048G>T; p.R683I; 4:20541524-20541524 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4003C>T; p.P1335S; 4:20617065-20617065 |
breast | carcinoma | Substitution - Missense |
c.3379A>T; p.N1127Y; 4:20596473-20596473 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.163C>T; p.R55C; 4:20253978-20253978 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2714T>G; p.F905C; 4:20553957-20553957 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1036G>A; p.G346R; 4:20511115-20511115 |
skin | malignant_melanoma | Substitution - Missense |
c.3801G>C; p.L1267F; 4:20610121-20610121 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3135C>A; p.N1045K; 4:20589690-20589690 |
skin | malignant_melanoma | Substitution - Missense |
c.2702C>T; p.P901L; 4:20553945-20553945 |
skin | malignant_melanoma | Substitution - Missense |
c.1437A>T; p.S479S; 4:20524176-20524176 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1428C>T; p.F476F; 4:20524167-20524167 |
skin | malignant_melanoma | Substitution - coding silent |
c.212C>T; p.T71M; 4:20256704-20256704 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.212C>T; p.T71M; 4:20256704-20256704 |
pancreas | carcinoma | Substitution - Missense |
c.1478G>A; p.R493Q; 4:20528964-20528964 |
skin | malignant_melanoma | Substitution - Missense |
c.3063A>G; p.T1021T; 4:20568979-20568979 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1948delT; p.F650fs*10; 4:20539556-20539556 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1428C>T; p.F476F; 4:20524167-20524167 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1400G>A; p.R467K; 4:20524139-20524139 |
skin | malignant_melanoma | Substitution - Missense |
c.1478G>A; p.R493Q; 4:20528964-20528964 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.917G>T; p.R306L; 4:20510497-20510497 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.212C>T; p.T71M; 4:20256704-20256704 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1478G>A; p.R493Q; 4:20528964-20528964 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3905C>A; p.T1302N; 4:20616967-20616967 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1062C>T; p.V354V; 4:20519385-20519385 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4421C>T; p.T1474I; 4:20618840-20618840 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3619G>A; p.A1207T; 4:20598322-20598322 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2057C>G; p.T686R; 4:20541533-20541533 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.809T>C; p.V270A; 4:20491794-20491794 |
skin | malignant_melanoma | Substitution - Missense |
c.2722C>T; p.Q908*; 4:20553965-20553965 |
skin | malignant_melanoma | Substitution - Nonsense |
c.2747_2748TA>CT; p.L916P; 4:20567283-20567284 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3344C>T; p.P1115L; 4:20596438-20596438 |
skin | malignant_melanoma | Substitution - Missense |
c.809T>C; p.V270A; 4:20491794-20491794 |
skin | malignant_melanoma | Substitution - Missense |
c.3172A>G; p.K1058E; 4:20589727-20589727 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4325A>T; p.Y1442F; 4:20617627-20617627 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.335G>T; p.R112I; 4:20268821-20268821 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1455C>A; p.F485L; 4:20525165-20525165 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.747G>A; p.E249E; 4:20488954-20488954 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1859G>T; p.C620F; 4:20539467-20539467 |
breast | carcinoma | Substitution - Missense |
c.4408G>T; p.A1470S; 4:20618827-20618827 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.381G>C; p.A127A; 4:20268867-20268867 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4008C>T; p.C1336C; 4:20617070-20617070 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4207G>T; p.G1403C; 4:20617509-20617509 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2851-4C>G; p.?; 4:20567514-20567514 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Unknown |
c.3341C>A; p.S1114Y; 4:20596435-20596435 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2625G>T; p.K875N; 4:20553868-20553868 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.3137C>T; p.P1046L; 4:20589692-20589692 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2836C>A; p.P946T; 4:20567372-20567372 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.674G>A; p.R225H; 4:20488881-20488881 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.674G>A; p.R225H; 4:20488881-20488881 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.674G>A; p.R225H; 4:20488881-20488881 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1206C>T; p.S402S; 4:20523835-20523835 |
skin | malignant_melanoma | Substitution - coding silent |
c.2645G>A; p.G882E; 4:20553888-20553888 |
skin | malignant_melanoma | Substitution - Missense |
c.4085G>A; p.W1362*; 4:20617147-20617147 |
skin; mucosal | malignant_melanoma | Substitution - Nonsense |
c.4085G>A; p.W1362*; 4:20617147-20617147 |
skin | malignant_melanoma | Substitution - Nonsense |
c.2205T>A; p.D735E; 4:20542555-20542555 |
ovary | other; neoplasm | Substitution - Missense |
c.2981A>G; p.N994S; 4:20568897-20568897 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1659C>A; p.I553I; 4:20532029-20532029 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2205T>A; p.D735E; 4:20542555-20542555 |
ovary | other; neoplasm | Substitution - Missense |
c.171C>A; p.T57T; 4:20253986-20253986 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3233A>G; p.D1078G; 4:20595747-20595747 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3081G>T; p.E1027D; 4:20568997-20568997 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.793G>A; p.A265T; 4:20491778-20491778 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1455C>T; p.F485F; 4:20525165-20525165 |
skin | malignant_melanoma | Substitution - coding silent |
c.4204G>A; p.G1402R; 4:20617506-20617506 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1887C>T; p.L629L; 4:20539495-20539495 |
breast | carcinoma | Substitution - coding silent |
c.3835C>A; p.L1279I; 4:20610155-20610155 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2681A>G; p.D894G; 4:20553924-20553924 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1034A>T; p.Q345L; 4:20511113-20511113 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.892C>A; p.L298I; 4:20491877-20491877 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.933A>C; p.T311T; 4:20510513-20510513 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.78G>T; p.Q26H; 4:20253893-20253893 |
thyroid | other; neoplasm | Substitution - Missense |
c.3690C>A; p.Y1230*; 4:20598393-20598393 |
lung | carcinoma; small_cell_carcinoma | Substitution - Nonsense |
c.431G>T; p.R144M; 4:20467787-20467787 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1581C>T; p.I527I; 4:20529067-20529067 |
skin | malignant_melanoma | Substitution - coding silent |
c.2594G>T; p.C865F; 4:20553837-20553837 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.290G>C; p.G97A; 4:20257906-20257906 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.4222G>A; p.E1408K; 4:20617524-20617524 |
skin | malignant_melanoma | Substitution - Missense |
c.4346G>A; p.R1449Q; 4:20617648-20617648 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4346G>A; p.R1449Q; 4:20617648-20617648 |
skin | malignant_melanoma | Substitution - Missense |
c.2435G>A; p.R812H; 4:20549074-20549074 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.681G>T; p.R227S; 4:20488888-20488888 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4355C>T; p.S1452F; 4:20618774-20618774 |
skin | malignant_melanoma | Substitution - Missense |
c.2435G>A; p.R812H; 4:20549074-20549074 |
large_intestine; caecum | adenoma | Substitution - Missense |
c.4346G>A; p.R1449Q; 4:20617648-20617648 |
skin | malignant_melanoma | Substitution - Missense |
c.24G>C; p.M8I; 4:20253839-20253839 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.256C>T; p.L86F; 4:20257872-20257872 |
thyroid | carcinoma | Substitution - Missense |
c.4130G>A; p.G1377E; 4:20617192-20617192 |
skin | malignant_melanoma | Substitution - Missense |
c.3044A>G; p.D1015G; 4:20568960-20568960 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1618C>T; p.L540F; 4:20531988-20531988 |
breast | carcinoma | Substitution - Missense |
c.4395G>A; p.Q1465Q; 4:20618814-20618814 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4282C>T; p.L1428F; 4:20617584-20617584 |
skin | malignant_melanoma | Substitution - Missense |
c.3353T>C; p.V1118A; 4:20596447-20596447 |
breast | carcinoma | Substitution - Missense |
c.1921C>A; p.Q641K; 4:20539529-20539529 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.590A>T; p.H197L; 4:20486250-20486250 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1290C>G; p.N430K; 4:20524029-20524029 |
skin; head_neck | malignant_melanoma; superficial_spreading | Substitution - Missense |
c.4195G>A; p.E1399K; 4:20617497-20617497 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1726G>A; p.G576R; 4:20533609-20533609 |
skin | malignant_melanoma | Substitution - Missense |
c.1726G>A; p.G576R; 4:20533609-20533609 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.996C>T; p.S332S; 4:20511075-20511075 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.4195G>A; p.E1399K; 4:20617497-20617497 |
skin | malignant_melanoma | Substitution - Missense |
c.4194G>A; p.L1398L; 4:20617496-20617496 |
skin | malignant_melanoma | Substitution - coding silent |
c.2596A>T; p.N866Y; 4:20553839-20553839 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.3693-7G>A; p.?; 4:20610006-20610006 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.3036A>T; p.T1012T; 4:20568952-20568952 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2492C>A; p.S831Y; 4:20550829-20550829 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1485A>T; p.K495N; 4:20528971-20528971 |
pancreas | carcinoma | Substitution - Missense |
c.3611A>T; p.D1204V; 4:20598314-20598314 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2706_2707insA; p.F905fs*14; 4:20553949-20553950 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.933A>G; p.T311T; 4:20510513-20510513 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1650C>A; p.A550A; 4:20532020-20532020 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2021G>A; p.W674*; 4:20541497-20541497 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Nonsense |
c.4065C>T; p.T1355T; 4:20617127-20617127 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2815G>T; p.D939Y; 4:20567351-20567351 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4044C>T; p.P1348P; 4:20617106-20617106 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3988T>G; p.L1330V; 4:20617050-20617050 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3126G>C; p.Q1042H; 4:20589681-20589681 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1308C>T; p.C436C; 4:20524047-20524047 |
autonomic_ganglia | neuroblastoma | Substitution - coding silent |
c.4270G>T; p.G1424W; 4:20617572-20617572 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.4523A>G; p.D1508G; 4:20618942-20618942 |
skin | malignant_melanoma | Substitution - Missense |
c.2598C>A; p.N866K; 4:20553841-20553841 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3693-7G>T; p.?; 4:20610006-20610006 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.1609G>A; p.E537K; 4:20529095-20529095 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1837T>C; p.L613L; 4:20539445-20539445 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.868G>A; p.G290S; 4:20491853-20491853 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2177G>A; p.R726H; 4:20542527-20542527 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4534T>C; p.F1512L; 4:20618953-20618953 |
skin | malignant_melanoma | Substitution - Missense |
c.3321T>C; p.S1107S; 4:20596415-20596415 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1529G>T; p.C510F; 4:20529015-20529015 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1637C>T; p.T546I; 4:20532007-20532007 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2668G>C; p.G890R; 4:20553911-20553911 |
breast | carcinoma | Substitution - Missense |
c.2642C>A; p.P881H; 4:20553885-20553885 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4345C>T; p.R1449*; 4:20617647-20617647 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.826G>A; p.A276T; 4:20491811-20491811 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.145G>A; p.V49M; 4:20253960-20253960 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3460G>A; p.E1154K; 4:20596554-20596554 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.145G>A; p.V49M; 4:20253960-20253960 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.145G>A; p.V49M; 4:20253960-20253960 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3032C>T; p.S1011F; 4:20568948-20568948 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4575G>A; p.T1525T; 4:20618994-20618994 |
skin | malignant_melanoma | Substitution - coding silent |
c.2422C>T; p.L808F; 4:20549061-20549061 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2202G>A; p.L734L; 4:20542552-20542552 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.4575G>A; p.T1525T; 4:20618994-20618994 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.4575G>A; p.T1525T; 4:20618994-20618994 |
breast | carcinoma | Substitution - coding silent |
c.2960C>T; p.A987V; 4:20568876-20568876 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4445G>T; p.C1482F; 4:20618864-20618864 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.644G>A; p.C215Y; 4:20488851-20488851 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3901G>A; p.G1301R; 4:20616963-20616963 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4160C>G; p.P1387R; 4:20617462-20617462 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1407A>G; p.G469G; 4:20524146-20524146 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2581C>T; p.L861F; 4:20553824-20553824 |
skin | malignant_melanoma | Substitution - Missense |
c.1194G>T; p.L398F; 4:20523823-20523823 |
large_intestine | adenoma | Substitution - Missense |
c.3310G>A; p.E1104K; 4:20595824-20595824 |
skin | malignant_melanoma | Substitution - Missense |
c.1297A>G; p.I433V; 4:20524036-20524036 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.747G>T; p.E249D; 4:20488954-20488954 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1907C>G; p.S636C; 4:20539515-20539515 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4129G>A; p.G1377R; 4:20617191-20617191 |
skin | malignant_melanoma | Substitution - Missense |
c.3263G>A; p.G1088E; 4:20595777-20595777 |
skin | malignant_melanoma | Substitution - Missense |
c.1384C>T; p.R462C; 4:20524123-20524123 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.226delG; p.A76fs*6; 4:20256718-20256718 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3916G>T; p.G1306C; 4:20616978-20616978 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.3334G>T; p.E1112*; 4:20596428-20596428 |
lung | carcinoma; small_cell_carcinoma | Substitution - Nonsense |
c.3916G>T; p.G1306C; 4:20616978-20616978 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.3169C>T; p.P1057S; 4:20589724-20589724 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.899A>T; p.E300V; 4:20491884-20491884 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.395+7A>G; p.?; 4:20268888-20268888 |
pancreas | carcinoma | Unknown |
c.3130C>T; p.L1044L; 4:20589685-20589685 |
skin | malignant_melanoma | Substitution - coding silent |
c.2810C>T; p.P937L; 4:20567346-20567346 |
skin | malignant_melanoma | Substitution - Missense |
c.1162C>T; p.R388W; 4:20523791-20523791 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3288C>T; p.N1096N; 4:20595802-20595802 |
pancreas | carcinoma | Substitution - coding silent |
c.131T>G; p.L44R; 4:20253946-20253946 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.915A>G; p.I305M; 4:20510495-20510495 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.429A>T; p.P143P; 4:20467785-20467785 |
lung; middle_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2705_2706CC>TT; p.S902F; 4:20553948-20553949 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3730G>T; p.E1244*; 4:20610050-20610050 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1304A>T; p.D435V; 4:20524043-20524043 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2324A>G; p.N775S; 4:20546078-20546078 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2324A>G; p.N775S; 4:20546078-20546078 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2380A>T; p.N794Y; 4:20548522-20548522 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.576G>T; p.V192V; 4:20486236-20486236 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3110T>C; p.L1037P; 4:20589665-20589665 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.2925G>T; p.K975N; 4:20567592-20567592 |
oesophagus | carcinoma | Substitution - Missense |
c.1343A>G; p.N448S; 4:20524082-20524082 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4436G>A; p.R1479Q; 4:20618855-20618855 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.1572_1574delCAA; p.N525delN; 4:20529058-20529060 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - In frame |
c.1998T>C; p.F666F; 4:20541474-20541474 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.3412G>A; p.V1138I; 4:20596506-20596506 |
breast | carcinoma | Substitution - Missense |
c.4436G>A; p.R1479Q; 4:20618855-20618855 |
skin | malignant_melanoma | Substitution - Missense |
c.4499G>A; p.R1500Q; 4:20618918-20618918 |
skin | malignant_melanoma | Substitution - Missense |
c.1198C>A; p.L400I; 4:20523827-20523827 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4348+1G>T; p.?; 4:20617651-20617651 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.4188G>T; p.K1396N; 4:20617490-20617490 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.4499G>A; p.R1500Q; 4:20618918-20618918 |
skin | malignant_melanoma | Substitution - Missense |
c.1316A>T; p.K439M; 4:20524055-20524055 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3835C>G; p.L1279V; 4:20610155-20610155 |
skin | malignant_melanoma | Substitution - Missense |
c.4499G>A; p.R1500Q; 4:20618918-20618918 |
skin | malignant_melanoma | Substitution - Missense |
c.3383T>C; p.F1128S; 4:20596477-20596477 |
skin | malignant_melanoma | Substitution - Missense |
c.576G>A; p.V192V; 4:20486236-20486236 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3684C>T; p.A1228A; 4:20598387-20598387 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |