No. | Chr | Position | Reference | Variant | EnsemblTranscriptID | EnsemblGeneID | Gene_Start | Gene_End | EnsemblProteinID | Gene | strand | Uniprot | cChange | pChange | Nature | dbSNP | Freq | EVS | phastCons | SIFT | Polyphen | HGMD | type | samples |
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1 | 16 | 46723561 | C | T | ENST00000219097 | ENSG00000091651 | 46723555 | 46732306 | ENSP00000219097 | ORC6 | 1 | ORC6_HUMAN | - | - | 5'_UTR | NA | - | - | lod=29:329 | - | - | - | het | 2 |
2 | 16 | 46723561 | C | T | ENST00000563599 | ENSG00000091651 | 46723555 | 46732306 | ENSP00000454299 | ORC6 | 1 | - | - | - | 5'_UTR | NA | - | - | lod=29:329 | - | - | - | het | 2 |
3 | 16 | 46723571 | G | A | ENST00000219097 | ENSG00000091651 | 46723555 | 46732306 | ENSP00000219097 | ORC6 | 1 | ORC6_HUMAN | - | - | 5'_UTR | rs144065502 | 0.0051 | A=33/G=8397;A=3/G=4307;A=36/G=12704 | - | - | - | - | het | 18 |
4 | 16 | 46723571 | G | A | ENST00000219097 | ENSG00000091651 | 46723555 | 46732306 | ENSP00000219097 | ORC6 | 1 | ORC6_HUMAN | - | - | 5'_UTR | rs144065502 | 0.0051 | A=33/G=8397;A=3/G=4307;A=36/G=12704 | - | - | - | - | hom | 1 |
5 | 16 | 46723571 | G | A | ENST00000563599 | ENSG00000091651 | 46723555 | 46732306 | ENSP00000454299 | ORC6 | 1 | - | - | - | 5'_UTR | rs144065502 | 0.0051 | A=33/G=8397;A=3/G=4307;A=36/G=12704 | - | - | - | - | het | 18 |
6 | 16 | 46723571 | G | A | ENST00000563599 | ENSG00000091651 | 46723555 | 46732306 | ENSP00000454299 | ORC6 | 1 | - | - | - | 5'_UTR | rs144065502 | 0.0051 | A=33/G=8397;A=3/G=4307;A=36/G=12704 | - | - | - | - | hom | 1 |
7 | 16 | 46723571 | G | A | ENST00000569239 | ENSG00000091651 | 46723555 | 46732306 | - | ORC6 | 1 | - | c.1G>A | p.V1I | non-syn | rs144065502 | 0.0051 | A=33/G=8397;A=3/G=4307;A=36/G=12704 | - | - | - | - | het | 18 |
8 | 16 | 46723571 | G | A | ENST00000569239 | ENSG00000091651 | 46723555 | 46732306 | - | ORC6 | 1 | - | c.1G>A | p.V1I | non-syn | rs144065502 | 0.0051 | A=33/G=8397;A=3/G=4307;A=36/G=12704 | - | - | - | - | hom | 1 |
9 | 16 | 46723597 | G | -T | ENST00000219097 | ENSG00000091651 | 46723555 | 46732306 | ENSP00000219097 | ORC6 | 1 | ORC6_HUMAN | - | - | 5'_UTR | NA | - | - | - | - | - | - | het | 1 |
10 | 16 | 46723597 | G | -T | ENST00000563306 | ENSG00000091651 | 46723555 | 46732306 | - | ORC6 | 1 | - | c.5_5del | p.V2NA | non-syn | NA | - | - | - | - | - | - | het | 1 |
11 | 16 | 46723597 | G | -T | ENST00000563599 | ENSG00000091651 | 46723555 | 46732306 | ENSP00000454299 | ORC6 | 1 | - | - | - | 5'_UTR | NA | - | - | - | - | - | - | het | 1 |
12 | 16 | 46723597 | G | -T | ENST00000569239 | ENSG00000091651 | 46723555 | 46732306 | - | ORC6 | 1 | - | c.28_28del | p.F10NA | non-syn | NA | - | - | - | - | - | - | het | 1 |
13 | 16 | 46723598 | T | C | ENST00000219097 | ENSG00000091651 | 46723555 | 46732306 | ENSP00000219097 | ORC6 | 1 | ORC6_HUMAN | - | - | 5'_UTR | rs33994299 | 0.4298 | C=3932/T=4614;C=476/T=3896;C=4408/T=8510 | - | - | - | - | het | 401 |
14 | 16 | 46723598 | T | C | ENST00000219097 | ENSG00000091651 | 46723555 | 46732306 | ENSP00000219097 | ORC6 | 1 | ORC6_HUMAN | - | - | 5'_UTR | rs33994299 | 0.4298 | C=3932/T=4614;C=476/T=3896;C=4408/T=8510 | - | - | - | - | hom | 195 |
15 | 16 | 46723598 | T | C | ENST00000563306 | ENSG00000091651 | 46723555 | 46732306 | - | ORC6 | 1 | - | c.5T>C | p.V2A | non-syn | rs33994299 | 0.4298 | C=3932/T=4614;C=476/T=3896;C=4408/T=8510 | - | - | - | - | het | 401 |
16 | 16 | 46723598 | T | C | ENST00000563306 | ENSG00000091651 | 46723555 | 46732306 | - | ORC6 | 1 | - | c.5T>C | p.V2A | non-syn | rs33994299 | 0.4298 | C=3932/T=4614;C=476/T=3896;C=4408/T=8510 | - | - | - | - | hom | 195 |
17 | 16 | 46723598 | T | C | ENST00000563599 | ENSG00000091651 | 46723555 | 46732306 | ENSP00000454299 | ORC6 | 1 | - | - | - | 5'_UTR | rs33994299 | 0.4298 | C=3932/T=4614;C=476/T=3896;C=4408/T=8510 | - | - | - | - | het | 401 |
18 | 16 | 46723598 | T | C | ENST00000563599 | ENSG00000091651 | 46723555 | 46732306 | ENSP00000454299 | ORC6 | 1 | - | - | - | 5'_UTR | rs33994299 | 0.4298 | C=3932/T=4614;C=476/T=3896;C=4408/T=8510 | - | - | - | - | hom | 195 |
19 | 16 | 46723598 | T | C | ENST00000569239 | ENSG00000091651 | 46723555 | 46732306 | - | ORC6 | 1 | - | c.28T>C | p.F10L | non-syn | rs33994299 | 0.4298 | C=3932/T=4614;C=476/T=3896;C=4408/T=8510 | - | - | - | - | het | 401 |
20 | 16 | 46723598 | T | C | ENST00000569239 | ENSG00000091651 | 46723555 | 46732306 | - | ORC6 | 1 | - | c.28T>C | p.F10L | non-syn | rs33994299 | 0.4298 | C=3932/T=4614;C=476/T=3896;C=4408/T=8510 | - | - | - | - | hom | 195 |