Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| geneid | 9185 |
|---|---|
| ensemblid | ENSG00000169891.18 |
| hgncid | 9963 |
| symbol | REPS2 |
| name | RALBP1 associated Eps domain containing 2 |
| refseq_nuc | NM_004726.3 |
| refseq_prot | NP_004717.2 |
| ensembl_nuc | ENST00000357277.8 |
| ensembl_prot | ENSP00000349824.3 |
| mane_status | MANE Select |
| chr | chrX |
| start | 16946658 |
| end | 17153272 |
| strand | + |
| ver | v1.2 |
| region | chrX:16946658-17153272 |
| region5000 | chrX:16941658-17158272 |
| regionname0 | REPS2_chrX_16946658_17153272 |
| regionname5000 | REPS2_chrX_16941658_17158272 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 660 | 159 | 38 | 26 | 60 | 7 | 26 | 44 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| a0002 | 0/0 | 660 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| a0003 | 0/0 | 326 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| a0004 | 0/0 | 527 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| a0005 | 0/0 | 495 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| a0006 | 0/0 | 326 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| a0007 | 0/0 | 326 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| a0008 | 0/0 | 334 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| chapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 1/1 | 1983 | 157 | 37 | 25 | 60 | 7 | 26 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| c0002 | 0/0 | 1982 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| c0003 | 0/0 | 1983 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| c0004 | 0/0 | 1984 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| c0005 | 0/0 | 1981 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| c0006 | 0/0 | 1984 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| c0007 | 0/0 | 1984 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| c0008 | 0/0 | 1984 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| c0009 | 0/0 | 1983 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| c0010 | 0/0 | 1983 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| thapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 0/0 | 5996 | 79 | 15 | 13 | 41 | 3 | 7 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| t0002 | 0/1 | 5996 | 31 | 0 | 4 | 13 | 1 | 12 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| t0003 | 0/0 | 5996 | 9 | 2 | 1 | 1 | 2 | 3 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| t0004 | 0/0 | 5996 | 9 | 7 | 2 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| t0005 | 0/0 | 5996 | 9 | 0 | 3 | 3 | 1 | 2 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| t0006 | 0/0 | 6008 | 3 | 2 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| t0007 | 0/0 | 5995 | 2 | 0 | 0 | 1 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| t0008 | 0/0 | 5996 | 2 | 2 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| t0009 | 0/0 | 6017 | 2 | 2 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| t0010 | 0/0 | 6017 | 2 | 2 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| t0011 | 0/0 | 5997 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| t0012 | 0/0 | 5996 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| t0013 | 0/0 | 5981 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| t0014 | 1/0 | 5996 | 1 | 0 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| t0015 | 0/0 | 5994 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| t0016 | 0/0 | 5996 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| t0017 | 0/0 | 5996 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| t0018 | 0/0 | 5996 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| t0019 | 0/0 | 5996 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| t0020 | 0/0 | 5996 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| t0021 | 0/0 | 5996 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| t0022 | 0/0 | 5996 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| t0023 | 0/0 | 5996 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| t0024 | 0/0 | 5997 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| t0025 | 0/0 | 5996 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| t0026 | 0/0 | 5997 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| t0027 | 0/0 | 5999 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| t0028 | 0/0 | 6014 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| ghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0003 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0005 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0006 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0007 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0009 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0010 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0011 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0014 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0018 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0026 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0033 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0037 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0042 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0043 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0048 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0050 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0051 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0053 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0059 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0061 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0063 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0066 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0074 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0075 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0078 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0092 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0096 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0097 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0098 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0099 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0100 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0102 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0105 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0106 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0108 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0109 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0111 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0113 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0116 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0117 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0120 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0121 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0123 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0124 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0125 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0126 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0127 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0128 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0130 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0131 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0134 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0137 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0138 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0142 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0145 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0156 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0161 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0164 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| achapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 1983 | 157 | 37 | 25 | 60 | 7 | 26 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| a0001c0003 | 0/0 | 1983 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| a0001c0010 | 0/0 | 1983 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| a0002c0009 | 0/0 | 1983 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| a0003c0008 | 0/0 | 1984 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| a0004c0004 | 0/0 | 1984 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| a0005c0005 | 0/0 | 1981 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| a0006c0006 | 0/0 | 1984 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| a0007c0007 | 0/0 | 1984 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| a0008c0002 | 0/0 | 1982 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 7978 | 73 | 14 | 12 | 38 | 3 | 6 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| a0001c0001t0002 | 0/1 | 7978 | 31 | 0 | 4 | 13 | 1 | 12 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| a0001c0001t0003 | 0/0 | 7978 | 8 | 2 | 1 | 1 | 2 | 2 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| a0001c0001t0004 | 0/0 | 7978 | 9 | 7 | 2 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| a0001c0001t0005 | 0/0 | 7978 | 8 | 0 | 2 | 3 | 1 | 2 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| a0001c0001t0006 | 0/0 | 7990 | 3 | 2 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| a0001c0001t0007 | 0/0 | 7977 | 2 | 0 | 0 | 1 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| a0001c0001t0008 | 0/0 | 7978 | 2 | 2 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| a0001c0001t0009 | 0/0 | 7999 | 2 | 2 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| a0001c0001t0010 | 0/0 | 7999 | 2 | 2 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| a0001c0001t0011 | 0/0 | 7979 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| a0001c0001t0012 | 0/0 | 7978 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| a0001c0001t0013 | 0/0 | 7963 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| a0001c0001t0014 | 1/0 | 7978 | 1 | 0 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| a0001c0001t0015 | 0/0 | 7976 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| a0001c0001t0016 | 0/0 | 7978 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| a0001c0001t0017 | 0/0 | 7978 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| a0001c0001t0018 | 0/0 | 7978 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| a0001c0001t0019 | 0/0 | 7978 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| a0001c0001t0020 | 0/0 | 7978 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| a0001c0001t0021 | 0/0 | 7978 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| a0001c0001t0022 | 0/0 | 7978 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| a0001c0001t0023 | 0/0 | 7978 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| a0001c0001t0025 | 0/0 | 7978 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| a0001c0001t0026 | 0/0 | 7979 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| a0001c0001t0027 | 0/0 | 7981 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| a0001c0001t0028 | 0/0 | 7996 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| a0001c0003t0001 | 0/0 | 7978 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| a0001c0010t0001 | 0/0 | 7978 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| a0002c0009t0001 | 0/0 | 7978 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| a0003c0008t0001 | 0/0 | 7979 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| a0004c0004t0003 | 0/0 | 7979 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| a0005c0005t0024 | 0/0 | 7977 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| a0006c0006t0005 | 0/0 | 7979 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| a0007c0007t0001 | 0/0 | 7979 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| a0008c0002t0001 | 0/0 | 7977 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | copy fasta | chrX | 16941658 | 17158272 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0018 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0037 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0042 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0043 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0053 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0059 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0061 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0066 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0078 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0096 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0099 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0102 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0142 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0145 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0156 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0161 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0003 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0097 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0105 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0106 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0111 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0113 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0116 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0117 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0121 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0123 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0125 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0126 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0127 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0128 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0130 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0131 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0137 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0164 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0003g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0003g0005 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0003g0007 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0003g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0003g0009 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0003g0010 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0003g0011 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0003g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0004g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0004g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0004g0074 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0004g0075 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0004g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0004g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0004g0092 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0004g0100 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0004g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0005g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0005g0033 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0005g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0005g0048 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0005g0050 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0005g0051 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0005g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0005g0138 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0006g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0006g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0006g0134 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0007g0109 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0007g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0008g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0008g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0009g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0009g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0010g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0010g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0011g0124 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0012g0120 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0013g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0014g0006 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0015g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0016g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0017g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0018g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0019g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0020g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0021g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0022g0098 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0023g0026 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0025g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0026g0108 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0027g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0028g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0003t0001g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0010t0001g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0002c0009t0001g0063 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0003c0008t0001g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0004c0004t0003g0014 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0005c0005t0024g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0006c0006t0005g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0007c0007t0001g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0008c0002t0001g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00140 | hp1 | a0001 | c0001 | t0003 | g0007 | EUR | GBR | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG00280 | hp1 | a0001 | c0001 | t0005 | g0051 | EUR | FIN | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG00438 | hp1 | a0001 | c0001 | t0001 | g0165 | EAS | CHS | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG00438 | hp2 | a0001 | c0001 | t0002 | g0104 | EAS | CHS | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG00609 | hp1 | a0001 | c0001 | t0001 | g0034 | EAS | CHS | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG00621 | hp1 | a0001 | c0001 | t0002 | g0110 | EAS | CHS | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG00642 | hp1 | a0001 | c0001 | t0001 | g0047 | AMR | PUR | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG00673 | hp1 | a0001 | c0001 | t0001 | g0054 | EAS | CHS | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG00735 | hp1 | a0001 | c0001 | t0005 | g0050 | AMR | PUR | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG00735 | hp2 | a0001 | c0001 | t0001 | g0066 | AMR | PUR | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG00738 | hp1 | a0001 | c0001 | t0001 | g0067 | AMR | PUR | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG01069 | hp1 | a0001 | c0001 | t0004 | g0074 | AMR | PUR | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG01071 | hp1 | a0001 | c0001 | t0004 | g0075 | AMR | PUR | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG01071 | hp2 | a0001 | c0001 | t0001 | g0096 | AMR | PUR | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG01074 | hp1 | a0001 | c0001 | t0002 | g0106 | AMR | PUR | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG01099 | hp1 | a0001 | c0001 | t0001 | g0099 | AMR | PUR | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG01106 | hp1 | a0001 | c0001 | t0015 | g0019 | AMR | PUR | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG01109 | hp1 | a0001 | c0001 | t0001 | g0078 | AMR | PUR | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG01167 | hp1 | a0001 | c0001 | t0003 | g0011 | AMR | PUR | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG01192 | hp1 | a0001 | c0003 | t0001 | g0055 | AMR | PUR | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG01243 | hp1 | a0001 | c0001 | t0001 | g0093 | AMR | PUR | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG01255 | hp1 | a0001 | c0001 | t0022 | g0098 | AMR | CLM | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG01256 | hp1 | a0001 | c0001 | t0023 | g0026 | AMR | CLM | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG01258 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG01261 | hp1 | a0001 | c0001 | t0005 | g0033 | AMR | CLM | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG01358 | hp1 | a0006 | c0006 | t0005 | g0032 | AMR | CLM | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG01433 | hp1 | a0001 | c0001 | t0002 | g0116 | AMR | CLM | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG01515 | hp1 | a0001 | c0001 | t0001 | g0042 | EUR | IBS | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG01517 | hp1 | a0001 | c0001 | t0001 | g0043 | EUR | IBS | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG01517 | hp2 | a0001 | c0001 | t0003 | g0005 | EUR | IBS | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG01928 | hp1 | a0001 | c0001 | t0001 | g0161 | AMR | PEL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG01934 | hp1 | a0001 | c0001 | t0001 | g0064 | AMR | PEL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG01943 | hp1 | a0001 | c0001 | t0001 | g0102 | AMR | PEL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG01952 | hp1 | a0001 | c0001 | t0001 | g0156 | AMR | PEL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02015 | hp1 | a0001 | c0001 | t0001 | g0143 | EAS | KHV | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02027 | hp1 | a0001 | c0001 | t0001 | g0159 | EAS | KHV | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02040 | hp1 | a0001 | c0001 | t0002 | g0022 | EAS | KHV | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02055 | hp1 | a0001 | c0001 | t0001 | g0083 | AFR | ACB | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02056 | hp1 | a0001 | c0001 | t0001 | g0028 | EAS | KHV | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02071 | hp1 | a0001 | c0001 | t0005 | g0086 | EAS | KHV | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02074 | hp1 | a0001 | c0001 | t0001 | g0065 | EAS | KHV | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02083 | hp1 | a0001 | c0001 | t0005 | g0029 | EAS | KHV | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02129 | hp1 | a0001 | c0001 | t0001 | g0160 | EAS | KHV | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02132 | hp1 | a0001 | c0001 | t0001 | g0025 | EAS | KHV | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02135 | hp1 | a0007 | c0007 | t0001 | g0060 | EAS | KHV | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02145 | hp1 | a0001 | c0001 | t0004 | g0100 | AFR | ACB | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02257 | hp1 | a0001 | c0001 | t0003 | g0008 | AFR | ACB | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02257 | hp2 | a0001 | c0001 | t0027 | g0115 | AFR | ACB | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02258 | hp1 | a0001 | c0001 | t0010 | g0140 | AFR | ACB | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02293 | hp1 | a0001 | c0001 | t0006 | g0134 | AMR | PEL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02293 | hp2 | a0001 | c0001 | t0002 | g0003 | AMR | PEL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02300 | hp2 | a0001 | c0001 | t0002 | g0097 | AMR | PEL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02572 | hp1 | a0001 | c0001 | t0020 | g0045 | AFR | GWD | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02602 | hp1 | a0001 | c0001 | t0007 | g0109 | SAS | PJL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02647 | hp1 | a0001 | c0001 | t0001 | g0107 | AFR | GWD | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02698 | hp1 | a0001 | c0001 | t0001 | g0018 | SAS | PJL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02717 | hp1 | a0001 | c0001 | t0006 | g0133 | AFR | GWD | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02723 | hp1 | a0001 | c0001 | t0004 | g0092 | AFR | GWD | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02723 | hp2 | a0001 | c0001 | t0016 | g0020 | AFR | GWD | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02735 | hp1 | a0001 | c0001 | t0012 | g0120 | SAS | PJL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02738 | hp1 | a0001 | c0001 | t0002 | g0128 | SAS | PJL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02886 | hp1 | a0001 | c0001 | t0001 | g0023 | AFR | GWD | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02886 | hp2 | a0001 | c0001 | t0025 | g0024 | AFR | GWD | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02895 | hp1 | a0001 | c0001 | t0004 | g0044 | AFR | GWD | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02922 | hp1 | a0001 | c0001 | t0018 | g0057 | AFR | ESN | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02922 | hp2 | a0001 | c0001 | t0009 | g0136 | AFR | ESN | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02965 | hp1 | a0001 | c0001 | t0001 | g0082 | AFR | ESN | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03017 | hp1 | a0001 | c0001 | t0005 | g0048 | SAS | PJL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03098 | hp1 | a0001 | c0001 | t0008 | g0046 | AFR | MSL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03130 | hp1 | a0001 | c0001 | t0004 | g0114 | AFR | ESN | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03139 | hp1 | a0001 | c0001 | t0001 | g0073 | AFR | ESN | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03209 | hp1 | a0001 | c0001 | t0008 | g0021 | AFR | MSL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03225 | hp1 | a0001 | c0001 | t0004 | g0035 | AFR | MSL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03239 | hp1 | a0001 | c0001 | t0001 | g0059 | SAS | PJL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03239 | hp2 | a0001 | c0001 | t0002 | g0127 | SAS | PJL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03453 | hp1 | a0001 | c0010 | t0001 | g0027 | AFR | MSL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03453 | hp2 | a0001 | c0001 | t0004 | g0084 | AFR | MSL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03486 | hp1 | a0001 | c0001 | t0028 | g0135 | AFR | MSL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03486 | hp2 | a0001 | c0001 | t0001 | g0031 | AFR | MSL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03490 | hp1 | a0001 | c0001 | t0002 | g0111 | SAS | PJL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03491 | hp1 | a0001 | c0001 | t0005 | g0138 | SAS | PJL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03491 | hp2 | a0001 | c0001 | t0002 | g0164 | SAS | PJL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03492 | hp1 | a0001 | c0001 | t0002 | g0137 | SAS | PJL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03516 | hp1 | a0001 | c0001 | t0009 | g0141 | AFR | ESN | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03516 | hp2 | a0001 | c0001 | t0001 | g0068 | AFR | ESN | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03579 | hp1 | a0001 | c0001 | t0001 | g0087 | AFR | MSL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03654 | hp1 | a0001 | c0001 | t0002 | g0126 | SAS | PJL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03669 | hp1 | a0001 | c0001 | t0003 | g0009 | SAS | PJL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03669 | hp2 | a0001 | c0001 | t0002 | g0123 | SAS | PJL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03688 | hp1 | a0001 | c0001 | t0001 | g0142 | SAS | STU | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03704 | hp1 | a0002 | c0009 | t0001 | g0063 | SAS | PJL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03704 | hp2 | a0001 | c0001 | t0002 | g0113 | SAS | PJL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03710 | hp1 | a0001 | c0001 | t0002 | g0105 | SAS | PJL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03831 | hp1 | a0001 | c0001 | t0001 | g0061 | SAS | BEB | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03831 | hp2 | a0001 | c0001 | t0003 | g0010 | SAS | BEB | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03927 | hp1 | a0001 | c0001 | t0011 | g0124 | SAS | BEB | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03927 | hp2 | a0004 | c0004 | t0003 | g0014 | SAS | BEB | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03942 | hp1 | a0001 | c0001 | t0026 | g0108 | SAS | BEB | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG04115 | hp1 | a0001 | c0001 | t0001 | g0145 | SAS | STU | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG04199 | hp1 | a0001 | c0001 | t0001 | g0037 | SAS | STU | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG04204 | hp1 | a0001 | c0001 | t0002 | g0117 | SAS | STU | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG04228 | hp1 | a0001 | c0001 | t0002 | g0125 | SAS | STU | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA18522 | hp1 | a0001 | c0001 | t0001 | g0072 | AFR | YRI | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA18612 | hp1 | a0001 | c0001 | t0001 | g0058 | EAS | CHB | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA18747 | hp1 | a0001 | c0001 | t0002 | g0039 | EAS | CHB | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA18943 | hp1 | a0001 | c0001 | t0001 | g0052 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA18944 | hp1 | a0001 | c0001 | t0001 | g0095 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA18945 | hp1 | a0001 | c0001 | t0001 | g0158 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA18946 | hp1 | a0001 | c0001 | t0002 | g0049 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA18946 | hp2 | a0001 | c0001 | t0019 | g0101 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA18948 | hp1 | a0008 | c0002 | t0001 | g0038 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA18952 | hp1 | a0001 | c0001 | t0001 | g0094 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA18959 | hp1 | a0001 | c0001 | t0001 | g0062 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA18960 | hp1 | a0001 | c0001 | t0002 | g0119 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA18962 | hp1 | a0001 | c0001 | t0002 | g0017 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA18965 | hp1 | a0001 | c0001 | t0001 | g0152 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA18967 | hp1 | a0003 | c0008 | t0001 | g0090 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA18971 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA18974 | hp1 | a0001 | c0001 | t0001 | g0166 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA18977 | hp1 | a0001 | c0001 | t0001 | g0150 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA18982 | hp1 | a0001 | c0001 | t0013 | g0030 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA18983 | hp1 | a0001 | c0001 | t0001 | g0089 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA18989 | hp1 | a0001 | c0001 | t0001 | g0155 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA18990 | hp1 | a0001 | c0001 | t0005 | g0036 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA18994 | hp1 | a0001 | c0001 | t0001 | g0079 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA18995 | hp1 | a0001 | c0001 | t0001 | g0071 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA18998 | hp1 | a0001 | c0001 | t0002 | g0112 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA18998 | hp2 | a0001 | c0001 | t0001 | g0144 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA19000 | hp1 | a0001 | c0001 | t0001 | g0153 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA19005 | hp1 | a0001 | c0001 | t0001 | g0157 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA19006 | hp1 | a0001 | c0001 | t0001 | g0040 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA19007 | hp1 | a0001 | c0001 | t0001 | g0076 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA19009 | hp1 | a0001 | c0001 | t0001 | g0088 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA19012 | hp1 | a0001 | c0001 | t0021 | g0151 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA19030 | hp1 | a0001 | c0001 | t0001 | g0056 | AFR | LWK | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA19030 | hp2 | a0001 | c0001 | t0006 | g0132 | AFR | LWK | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA19043 | hp1 | a0001 | c0001 | t0001 | g0069 | AFR | LWK | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA19056 | hp1 | a0001 | c0001 | t0001 | g0077 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA19057 | hp1 | a0001 | c0001 | t0003 | g0012 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA19057 | hp2 | a0001 | c0001 | t0001 | g0080 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA19058 | hp1 | a0001 | c0001 | t0002 | g0122 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA19060 | hp1 | a0001 | c0001 | t0001 | g0154 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA19062 | hp1 | a0001 | c0001 | t0001 | g0147 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA19063 | hp1 | a0001 | c0001 | t0001 | g0041 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA19066 | hp1 | a0001 | c0001 | t0002 | g0129 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA19068 | hp1 | a0001 | c0001 | t0001 | g0149 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA19070 | hp1 | a0001 | c0001 | t0007 | g0118 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA19072 | hp1 | a0005 | c0005 | t0024 | g0148 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA19076 | hp1 | a0001 | c0001 | t0002 | g0015 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA19083 | hp1 | a0001 | c0001 | t0017 | g0013 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA19085 | hp1 | a0001 | c0001 | t0001 | g0070 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA19088 | hp1 | a0001 | c0001 | t0001 | g0162 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA19089 | hp1 | a0001 | c0001 | t0001 | g0146 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA19091 | hp1 | a0001 | c0001 | t0002 | g0163 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA20752 | hp1 | a0001 | c0001 | t0001 | g0053 | EUR | TSI | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA20805 | hp1 | a0001 | c0001 | t0002 | g0131 | EUR | TSI | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA20905 | hp1 | a0001 | c0001 | t0002 | g0130 | SAS | GIH | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02109 | hp1 | a0001 | c0001 | t0004 | g0085 | AFR | ACB | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02109 | hp2 | a0001 | c0001 | t0003 | g0004 | AFR | ACB | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02486 | hp1 | a0001 | c0001 | t0001 | g0103 | AFR | ACB | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03471 | hp1 | a0001 | c0001 | t0001 | g0091 | AFR | MSL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG06807 | hp1 | a0001 | c0001 | t0010 | g0139 | AFR | USA | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG06807 | hp2 | a0001 | c0001 | t0001 | g0081 | AFR | USA | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA18955 | hp1 | a0001 | c0001 | t0002 | g0016 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| homoSapiens_chm13v2 | hp1 | a0001 | c0001 | t0002 | g0121 | REF | REF | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| homoSapiens_grch38 | hp1 | a0001 | c0001 | t0014 | g0006 | REF | REF | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrX:17029552
|
G | T | 1 | a0002 | 1 | HG03704.hp1 | missense_variant | MODERATE | c.700G>T | p.Val234Phe | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/18 | 904/7978 | 700/1983 | 234/660 | chrX | 17029552 | ||
| chrX:17047439
|
T | TC | 1 | a0003 | 1 | NA18967.hp1 | frameshift_variant | HIGH | c.865dupC | p.Gln289fs | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/18 | 1070/7978 | 866/1983 | 289/660 | INFO_REALIGN_3_PRIME | chrX | 17047439 | |
| chrX:17047462
|
AC | A | 1 | a0008 | 1 | NA18948.hp1 | frameshift_variant | HIGH | c.890delC | p.Pro297fs | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/18 | 1094/7978 | 890/1983 | 297/660 | INFO_REALIGN_3_PRIME | chrX | 17047462 | |
| chrX:17052387
|
G | GT | 1 | a0007 | 1 | HG02135.hp1 | frameshift_variant | HIGH | c.914dupT | p.Ala306fs | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 7/18 | 1119/7978 | 915/1983 | 305/660 | INFO_REALIGN_3_PRIME | chrX | 17052387 | |
| chrX:17052405
|
A | AC | 1 | a0006 | 1 | HG01358.hp1 | frameshift_variant | HIGH | c.933dupC | p.Lys312fs | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 7/18 | 1138/7978 | 934/1983 | 312/660 | INFO_REALIGN_3_PRIME | chrX | 17052405 | |
| chrX:17077368
|
TC | T | 1 | a0005 | 1 | NA19072.hp1 | frameshift_variant | HIGH | c.1479delC | p.Leu494fs | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/18 | 1683/7978 | 1479/1983 | 493/660 | INFO_REALIGN_3_PRIME | chrX | 17077368 | |
| chrX:17077394
|
GC | G | 1 | a0005 | 1 | NA19072.hp1 | frameshift_variant | HIGH | c.1506delC | p.Ser503fs | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/18 | 1710/7978 | 1506/1983 | 502/660 | INFO_REALIGN_3_PRIME | chrX | 17077394 | |
| chrX:17103737
|
A | AC | 1 | a0004 | 1 | HG03927.hp2 | frameshift_variant | HIGH | c.1541dupC | p.Pro515fs | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/18 | 1746/7978 | 1542/1983 | 514/660 | INFO_REALIGN_3_PRIME | chrX | 17103737 |
| chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrX:16946900
|
A | G | 1 | a0001c0010 | 1 | HG03453.hp1 | synonymous_variant | LOW | c.39A>G | p.Ala13Ala | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/18 | 243/7978 | 39/1983 | 13/660 | chrX | 16946900 | ||
| chrX:17068425
|
T | C | 1 | a0001c0003 | 1 | HG01192.hp1 | synonymous_variant | LOW | c.1233T>C | p.Ala411Ala | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 10/18 | 1437/7978 | 1233/1983 | 411/660 | chrX | 17068425 |
| chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrX:16946726
|
T | TG | 1 | a0001c0001t0011 | 1 | HG03927.hp1 | 5_prime_UTR_variant | MODIFIER | c.-131dupG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/18 | 130 | INFO_REALIGN_3_PRIME | chrX | 16946726 | ||||
| chrX:16946732
|
TGGTGGTG others(8): Show |
T | 1 | a0001c0001t0013 | 1 | NA18982.hp1 | 5_prime_UTR_variant | MODIFIER | c.-112_-98delTGGTGGC others(8): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/18 | 98 | INFO_REALIGN_3_PRIME | chrX | 16946732 | ||||
| chrX:16946738
|
T | C | 1 | a0001c0001t0012 | 1 | HG02735.hp1 | 5_prime_UTR_variant | MODIFIER | c.-124T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/18 | 124 | chrX | 16946738 | |||||
| chrX:16946753
|
T | TGGC | 1 | a0001c0001t0027 | 1 | HG02257.hp2 | 5_prime_UTR_variant | MODIFIER | c.-90_-88dupGGC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/18 | 87 | INFO_REALIGN_3_PRIME | chrX | 16946753 | ||||
| chrX:16946753
|
T | TGGCGGCG others(5): Show |
1 | a0001c0001t0006 | 3 | HG02293.hp1 HG02717.hp1 NA19030.hp2 |
5_prime_UTR_variant | MODIFIER | c.-99_-88dupGGCGGCGG others(4): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/18 | 87 | INFO_REALIGN_3_PRIME | chrX | 16946753 | ||||
| chrX:16946753
|
T | TGGCGGCG others(11): Show |
1 | a0001c0001t0028 | 1 | HG03486.hp1 | 5_prime_UTR_variant | MODIFIER | c.-105_-88dupGGCGGCG others(11): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/18 | 87 | INFO_REALIGN_3_PRIME | chrX | 16946753 | ||||
| chrX:16946753
|
T | TGGCGGCG others(14): Show |
2 | a0001c0001t0009a0001c0001t0010 | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
5_prime_UTR_variant | MODIFIER | c.-108_-88dupGGCGGCG others(14): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/18 | 87 | INFO_REALIGN_3_PRIME | chrX | 16946753 | ||||
| chrX:16946831
|
C | T | 26 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(23): Show | 145 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(142): Show |
5_prime_UTR_variant | MODIFIER | c.-31C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/18 | 31 | chrX | 16946831 | |||||
| chrX:17147517
|
T | C | 1 | a0001c0001t0018 | 1 | HG02922.hp1 | 3_prime_UTR_variant | MODIFIER | c.*36T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 18/18 | 36 | chrX | 17147517 | |||||
| chrX:17148096
|
C | T | 35 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | 165 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(162): Show |
3_prime_UTR_variant | MODIFIER | c.*615C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 18/18 | 615 | chrX | 17148096 | |||||
| chrX:17148279
|
A | C | 1 | a0001c0001t0008 | 2 | HG03098.hp1 HG03209.hp1 |
3_prime_UTR_variant | MODIFIER | c.*798A>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 18/18 | 798 | chrX | 17148279 | |||||
| chrX:17148527
|
A | G | 1 | a0001c0001t0010 | 2 | HG02258.hp1 HG06807.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1046A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 18/18 | 1046 | chrX | 17148527 | |||||
| chrX:17148672
|
A | G | 31 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(28): Show | 152 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(149): Show |
3_prime_UTR_variant | MODIFIER | c.*1191A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 18/18 | 1191 | chrX | 17148672 | |||||
| chrX:17149081
|
C | T | 2 | a0001c0001t0005a0006c0006t0005 | 9 | HG00280.hp1 HG00735.hp1 HG01261.hp1 others(6): Show |
3_prime_UTR_variant | MODIFIER | c.*1600C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 18/18 | 1600 | chrX | 17149081 | |||||
| chrX:17149185
|
G | C | 2 | a0001c0001t0009a0001c0001t0010 | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*1704G>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 18/18 | 1704 | chrX | 17149185 | |||||
| chrX:17149219
|
G | A | 1 | a0001c0001t0013 | 1 | NA18982.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1738G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 18/18 | 1738 | chrX | 17149219 | |||||
| chrX:17149359
|
G | T | 6 | a0001c0001t0002a0001c0001t0007a0001c0001t0011others(3): Show | 37 | HG00438.hp2 HG00621.hp1 HG01074.hp1 others(34): Show |
3_prime_UTR_variant | MODIFIER | c.*1878G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 18/18 | 1878 | chrX | 17149359 | |||||
| chrX:17149374
|
C | T | 1 | a0001c0001t0025 | 1 | HG02886.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1893C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 18/18 | 1893 | chrX | 17149374 | |||||
| chrX:17149769
|
T | G | 1 | a0001c0001t0008 | 2 | HG03098.hp1 HG03209.hp1 |
3_prime_UTR_variant | MODIFIER | c.*2288T>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 18/18 | 2288 | chrX | 17149769 | |||||
| chrX:17150300
|
A | G | 2 | a0001c0001t0009a0001c0001t0010 | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*2819A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 18/18 | 2819 | chrX | 17150300 | |||||
| chrX:17150359
|
G | C | 1 | a0001c0001t0019 | 1 | NA18946.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2878G>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 18/18 | 2878 | chrX | 17150359 | |||||
| chrX:17150651
|
T | A | 1 | a0001c0001t0013 | 1 | NA18982.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3170T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 18/18 | 3170 | chrX | 17150651 | |||||
| chrX:17150871
|
G | GT | 1 | a0001c0001t0026 | 1 | HG03942.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3399dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 18/18 | 3400 | INFO_REALIGN_3_PRIME | chrX | 17150871 | ||||
| chrX:17151872
|
C | CT | 2 | a0001c0001t0016a0005c0005t0024 | 2 | HG02723.hp2 NA19072.hp1 |
3_prime_UTR_variant | MODIFIER | c.*4404dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 18/18 | 4405 | INFO_REALIGN_3_PRIME | chrX | 17151872 | ||||
| chrX:17151872
|
CT | C | 2 | a0001c0001t0007a0001c0001t0015 | 3 | HG01106.hp1 HG02602.hp1 NA19070.hp1 |
3_prime_UTR_variant | MODIFIER | c.*4404delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 18/18 | 4404 | INFO_REALIGN_3_PRIME | chrX | 17151872 | ||||
| chrX:17151880
|
T | G | 1 | a0001c0001t0020 | 1 | HG02572.hp1 | 3_prime_UTR_variant | MODIFIER | c.*4399T>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 18/18 | 4399 | chrX | 17151880 | |||||
| chrX:17152004
|
A | G | 1 | a0001c0001t0023 | 1 | HG01256.hp1 | 3_prime_UTR_variant | MODIFIER | c.*4523A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 18/18 | 4523 | chrX | 17152004 | |||||
| chrX:17152063
|
G | A | 1 | a0001c0001t0021 | 1 | NA19012.hp1 | 3_prime_UTR_variant | MODIFIER | c.*4582G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 18/18 | 4582 | chrX | 17152063 | |||||
| chrX:17152404
|
A | G | 1 | a0001c0001t0022 | 1 | HG01255.hp1 | 3_prime_UTR_variant | MODIFIER | c.*4923A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 18/18 | 4923 | chrX | 17152404 | |||||
| chrX:17152692
|
T | C | 2 | a0001c0001t0009a0001c0001t0010 | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*5211T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 18/18 | 5211 | chrX | 17152692 | |||||
| chrX:17152768
|
CG | C | 2 | a0001c0001t0015a0001c0001t0016 | 2 | HG01106.hp1 HG02723.hp2 |
3_prime_UTR_variant | MODIFIER | c.*5290delG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 18/18 | 5290 | INFO_REALIGN_3_PRIME | chrX | 17152768 | ||||
| chrX:17152828
|
C | G | 2 | a0001c0001t0006a0001c0001t0028 | 4 | HG02293.hp1 HG02717.hp1 HG03486.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*5347C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 18/18 | 5347 | chrX | 17152828 | |||||
| chrX:17153105
|
G | A | 2 | a0001c0001t0009a0001c0001t0010 | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*5624G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 18/18 | 5624 | chrX | 17153105 | |||||
| chrX:17153177
|
A | G | 7 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(4): Show | 46 | HG00438.hp2 HG00621.hp1 HG01069.hp1 others(43): Show |
3_prime_UTR_variant | MODIFIER | c.*5696A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 18/18 | 5696 | chrX | 17153177 | |||||
| chrX:17153224
|
A | G | 2 | a0001c0001t0009a0001c0001t0010 | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*5743A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 18/18 | 5743 | chrX | 17153224 |
| chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrX:16947585
|
G | A | 1 | a0001c0001t0001g0001 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.273+451G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16947585 | ||||||
| chrX:16948076
|
G | A | 1 | a0001c0001t0001g0002 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.273+942G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16948076 | ||||||
| chrX:16948272
|
A | G | 2 | a0001c0001t0001g0165a0001c0001t0001g0166 | 2 | HG00438.hp1 NA18974.hp1 |
intron_variant | MODIFIER | c.273+1138A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16948272 | ||||||
| chrX:16948280
|
AGACACTT others(19): Show |
A | 1 | a0001c0001t0002g0003 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.273+1149_273+1174d others(28): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16948280 | |||||
| chrX:16949069
|
TTGG | T | 152 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(149): Show | 152 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(149): Show |
intron_variant | MODIFIER | c.273+1968_273+1970d others(5): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16949069 | |||||
| chrX:16949411
|
A | G | 1 | a0001c0001t0002g0164 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.273+2277A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16949411 | ||||||
| chrX:16949448
|
C | T | 1 | a0001c0001t0002g0163 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.273+2314C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16949448 | ||||||
| chrX:16949728
|
CTATT | C | 1 | a0001c0001t0001g0162 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.273+2596_273+2599d others(6): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16949728 | |||||
| chrX:16949730
|
AT | A | 3 | a0001c0001t0001g0018a0001c0001t0015g0019a0001c0001t0016g0020 | 3 | HG01106.hp1 HG02698.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.273+2607delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16949730 | |||||
| chrX:16949847
|
TAG | T | 2 | a0001c0001t0015g0019a0001c0001t0016g0020 | 2 | HG01106.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.273+2716_273+2717d others(4): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16949847 | |||||
| chrX:16949900
|
C | G | 155 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(152): Show | 155 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(152): Show |
intron_variant | MODIFIER | c.273+2766C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16949900 | ||||||
| chrX:16949903
|
T | C | 1 | a0001c0001t0008g0021 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.273+2769T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16949903 | ||||||
| chrX:16950064
|
A | AT | 1 | a0001c0001t0001g0161 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.273+2946dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16950064 | |||||
| chrX:16950064
|
AT | A | 1 | a0001c0001t0002g0022 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.273+2946delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16950064 | |||||
| chrX:16950782
|
C | T | 21 | a0001c0001t0001g0018a0001c0001t0001g0142a0001c0001t0001g0143others(18): Show | 21 | HG01928.hp1 HG01952.hp1 HG02015.hp1 others(18): Show |
intron_variant | MODIFIER | c.273+3648C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16950782 | ||||||
| chrX:16951126
|
T | C | 1 | a0001c0001t0001g0023 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.273+3992T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16951126 | ||||||
| chrX:16951289
|
T | G | 1 | a0001c0001t0025g0024 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.273+4155T>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16951289 | ||||||
| chrX:16951500
|
T | TAC | 4 | a0001c0001t0001g0056a0001c0001t0001g0142a0001c0001t0008g0021others(1): Show | 4 | HG02922.hp1 HG03209.hp1 HG03688.hp1 others(1): Show |
intron_variant | MODIFIER | c.273+4425_273+4426d others(4): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16951500 | |||||
| chrX:16951500
|
T | TACAC | 4 | a0001c0001t0003g0005a0001c0001t0008g0046a0001c0001t0015g0019others(1): Show | 4 | HG01106.hp1 HG01517.hp2 HG02572.hp1 others(1): Show |
intron_variant | MODIFIER | c.273+4423_273+4426d others(6): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16951500 | |||||
| chrX:16951500
|
T | TACACAC | 1 | a0001c0001t0004g0044 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.273+4421_273+4426d others(8): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16951500 | |||||
| chrX:16951500
|
T | TACACACA others(1): Show |
1 | a0001c0001t0004g0035 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.273+4419_273+4426d others(10): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16951500 | |||||
| chrX:16951500
|
T | TACACACA others(3): Show |
1 | a0001c0001t0003g0004 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.273+4417_273+4426d others(12): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16951500 | |||||
| chrX:16951500
|
TAC | T | 8 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0003g0007others(5): Show | 8 | HG00140.hp1 HG01069.hp1 HG01071.hp1 others(5): Show |
intron_variant | MODIFIER | c.273+4425_273+4426d others(4): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16951500 | |||||
| chrX:16951500
|
TACAC | T | 6 | a0001c0001t0001g0081a0001c0001t0001g0082a0001c0001t0001g0083others(3): Show | 6 | HG01167.hp1 HG02055.hp1 HG02109.hp1 others(3): Show |
intron_variant | MODIFIER | c.273+4423_273+4426d others(6): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16951500 | |||||
| chrX:16951500
|
TACACAC | T | 3 | a0001c0001t0001g0091a0001c0001t0004g0092a0001c0001t0016g0020 | 3 | HG02723.hp1 HG02723.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.273+4421_273+4426d others(8): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16951500 | |||||
| chrX:16951500
|
TACACACA others(1): Show |
T | 4 | a0001c0001t0003g0012a0001c0001t0004g0100a0001c0001t0017g0013others(1): Show | 4 | HG02145.hp1 HG03927.hp2 NA19057.hp1 others(1): Show |
intron_variant | MODIFIER | c.273+4419_273+4426d others(10): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16951500 | |||||
| chrX:16951500
|
TACACACA others(7): Show |
T | 2 | a0001c0001t0004g0114a0001c0001t0027g0115 | 2 | HG02257.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.273+4413_273+4426d others(16): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16951500 | |||||
| chrX:16951529
|
ACACACAC others(25): Show |
A | 5 | a0001c0001t0002g0137a0001c0001t0005g0138a0001c0001t0009g0141others(2): Show | 5 | HG02258.hp1 HG03491.hp1 HG03492.hp1 others(2): Show |
intron_variant | MODIFIER | c.273+4397_273+4428d others(34): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16951529 | |||||
| chrX:16951531
|
ACACACAC others(23): Show |
A | 1 | a0001c0001t0009g0136 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.273+4399_273+4428d others(32): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16951531 | |||||
| chrX:16951539
|
ACACACAC others(15): Show |
A | 3 | a0001c0001t0006g0133a0001c0001t0006g0134a0001c0001t0028g0135 | 3 | HG02293.hp1 HG02717.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.273+4407_273+4428d others(24): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16951539 | |||||
| chrX:16951541
|
ACACACAC others(13): Show |
A | 3 | a0001c0001t0002g0130a0001c0001t0002g0131a0001c0001t0006g0132 | 3 | NA19030.hp2 NA20805.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.273+4409_273+4428d others(22): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16951541 | |||||
| chrX:16951543
|
ACACACAC others(10): Show |
A | 8 | a0001c0001t0001g0018a0001c0001t0001g0154a0001c0001t0001g0155others(5): Show | 8 | HG01952.hp1 HG02027.hp1 HG02129.hp1 others(5): Show |
intron_variant | MODIFIER | c.273+4411_273+4427d others(19): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16951543 | |||||
| chrX:16951543
|
ACACACAC others(11): Show |
A | 1 | a0001c0001t0002g0129 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.273+4411_273+4428d others(20): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16951543 | |||||
| chrX:16951545
|
ACACACAC others(8): Show |
A | 6 | a0001c0001t0001g0149a0001c0001t0001g0150a0001c0001t0001g0152others(3): Show | 6 | NA18965.hp1 NA18977.hp1 NA19000.hp1 others(3): Show |
intron_variant | MODIFIER | c.273+4413_273+4427d others(17): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16951545 | |||||
| chrX:16951545
|
ACACACAC others(9): Show |
A | 18 | a0001c0001t0001g0023a0001c0001t0002g0015a0001c0001t0002g0016others(15): Show | 18 | HG01433.hp1 HG02735.hp1 HG02738.hp1 others(15): Show |
intron_variant | MODIFIER | c.273+4413_273+4428d others(18): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16951545 | |||||
| chrX:16951547
|
ACACACAC others(6): Show |
A | 2 | a0001c0001t0001g0107a0001c0001t0001g0161 | 2 | HG01928.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.273+4415_273+4427d others(15): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16951547 | |||||
| chrX:16951547
|
ACACACAC others(7): Show |
A | 5 | a0001c0001t0002g0110a0001c0001t0002g0111a0001c0001t0002g0112others(2): Show | 5 | HG00621.hp1 HG02602.hp1 HG03490.hp1 others(2): Show |
intron_variant | MODIFIER | c.273+4415_273+4428d others(16): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16951547 | |||||
| chrX:16951547
|
ACACACAC others(8): Show |
A | 1 | a0001c0001t0002g0113 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.273+4415_273+4429d others(17): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16951547 | |||||
| chrX:16951549
|
ACACACAC others(4): Show |
A | 2 | a0001c0001t0001g0103a0001c0001t0001g0147 | 2 | HG02486.hp1 NA19062.hp1 |
intron_variant | MODIFIER | c.273+4417_273+4427d others(13): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16951549 | |||||
| chrX:16951549
|
ACACACAC others(5): Show |
A | 3 | a0001c0001t0002g0104a0001c0001t0002g0105a0001c0001t0002g0106 | 3 | HG00438.hp2 HG01074.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.273+4417_273+4428d others(14): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16951549 | |||||
| chrX:16951550
|
CACACACA others(2): Show |
C | 1 | a0001c0001t0001g0102 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.273+4417_273+4425d others(11): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16951550 | ||||||
| chrX:16951551
|
ACACACAC others(2): Show |
A | 2 | a0001c0001t0019g0101a0001c0001t0025g0024 | 2 | HG02886.hp2 NA18946.hp2 |
intron_variant | MODIFIER | c.273+4419_273+4427d others(11): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16951551 | |||||
| chrX:16951552
|
CACACA | C | 1 | a0001c0001t0002g0097 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.273+4419_273+4423d others(7): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16951552 | ||||||
| chrX:16951552
|
CACACACA | C | 3 | a0001c0001t0001g0099a0001c0001t0001g0166a0001c0001t0022g0098 | 3 | HG01099.hp1 HG01255.hp1 NA18974.hp1 |
intron_variant | MODIFIER | c.273+4419_273+4425d others(9): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16951552 | ||||||
| chrX:16951553
|
ACACACAC | A | 5 | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0001g0095others(2): Show | 5 | HG01071.hp2 HG01243.hp1 NA18944.hp1 others(2): Show |
intron_variant | MODIFIER | c.273+4421_273+4427d others(9): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16951553 | |||||
| chrX:16951554
|
CACA | C | 1 | a0001c0001t0002g0003 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.273+4421_273+4423d others(5): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16951554 | ||||||
| chrX:16951554
|
CACACA | C | 3 | a0001c0001t0001g0088a0001c0001t0001g0089a0003c0008t0001g0090 | 3 | NA18967.hp1 NA18983.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.273+4421_273+4425d others(7): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16951554 | ||||||
| chrX:16951555
|
ACACAC | A | 4 | a0001c0001t0001g0143a0001c0001t0001g0144a0001c0001t0001g0145others(1): Show | 4 | HG02015.hp1 HG02071.hp1 HG04115.hp1 others(1): Show |
intron_variant | MODIFIER | c.273+4423_273+4427d others(7): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16951555 | |||||
| chrX:16951555
|
ACACACC | A | 1 | a0001c0001t0001g0087 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.273+4423_273+4428d others(8): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16951555 | |||||
| chrX:16951556
|
CA | C | 1 | a0001c0001t0001g0078 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.273+4423delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16951556 | ||||||
| chrX:16951556
|
CACA | C | 2 | a0001c0001t0001g0079a0001c0001t0001g0080 | 2 | NA18994.hp1 NA19057.hp2 |
intron_variant | MODIFIER | c.273+4423_273+4425d others(5): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16951556 | ||||||
| chrX:16951557
|
A | AC | 1 | a0001c0001t0001g0165 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.273+4424dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16951557 | |||||
| chrX:16951557
|
ACAC | A | 3 | a0001c0001t0001g0002a0001c0001t0001g0076a0001c0001t0001g0077 | 3 | NA18971.hp1 NA19007.hp1 NA19056.hp1 |
intron_variant | MODIFIER | c.273+4425_273+4427d others(5): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16951557 | |||||
| chrX:16951558
|
CA | C | 3 | a0001c0001t0001g0069a0001c0001t0001g0070a0001c0001t0001g0071 | 3 | NA18995.hp1 NA19043.hp1 NA19085.hp1 |
intron_variant | MODIFIER | c.273+4425delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16951558 | ||||||
| chrX:16951559
|
A | AC | 7 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0064others(4): Show | 7 | HG00735.hp2 HG00738.hp1 HG01934.hp1 others(4): Show |
intron_variant | MODIFIER | c.273+4430dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16951559 | |||||
| chrX:16951559
|
A | ACAC | 4 | a0001c0001t0001g0053a0001c0001t0001g0054a0001c0001t0001g0162others(1): Show | 4 | HG00673.hp1 HG01192.hp1 NA19088.hp1 others(1): Show |
intron_variant | MODIFIER | c.273+4426_273+4427i others(5): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16951559 | |||||
| chrX:16951559
|
A | ACACAC | 1 | a0001c0001t0001g0001 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.273+4426_273+4427i others(7): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16951559 | |||||
| chrX:16951559
|
A | ACACACAC | 5 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(2): Show | 5 | HG01515.hp1 HG01517.hp1 NA18747.hp1 others(2): Show |
intron_variant | MODIFIER | c.273+4426_273+4427i others(9): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16951559 | |||||
| chrX:16951559
|
A | ACACACAC others(4): Show |
1 | a0001c0001t0013g0030 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.273+4426_273+4427i others(13): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16951559 | |||||
| chrX:16951559
|
A | ACACACAC others(6): Show |
1 | a0001c0001t0001g0028 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.273+4426_273+4427i others(15): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16951559 | |||||
| chrX:16951559
|
A | ACACACAC others(8): Show |
2 | a0001c0001t0001g0025a0001c0001t0023g0026 | 2 | HG01256.hp1 HG02132.hp1 |
intron_variant | MODIFIER | c.273+4426_273+4427i others(17): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16951559 | |||||
| chrX:16951559
|
A | ACACACAC others(7): Show |
1 | a0001c0010t0001g0027 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.273+4426_273+4427i others(16): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16951559 | |||||
| chrX:16951559
|
A | ACACACAC others(6): Show |
1 | a0001c0001t0005g0029 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.273+4426_273+4427i others(15): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16951559 | |||||
| chrX:16951559
|
A | ACACACAC others(4): Show |
3 | a0001c0001t0001g0034a0001c0001t0005g0033a0006c0006t0005g0032 | 3 | HG00609.hp1 HG01261.hp1 HG01358.hp1 |
intron_variant | MODIFIER | c.273+4426_273+4427i others(13): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16951559 | |||||
| chrX:16951559
|
A | ACACACAC others(2): Show |
3 | a0001c0001t0001g0037a0001c0001t0005g0036a0008c0002t0001g0038 | 3 | HG04199.hp1 NA18948.hp1 NA18990.hp1 |
intron_variant | MODIFIER | c.273+4426_273+4427i others(11): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16951559 | |||||
| chrX:16951559
|
A | ACACACC | 1 | a0001c0001t0002g0022 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.273+4426_273+4427i others(8): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16951559 | |||||
| chrX:16951559
|
A | ACACC | 2 | a0001c0001t0001g0052a0001c0001t0005g0051 | 2 | HG00280.hp1 NA18943.hp1 |
intron_variant | MODIFIER | c.273+4426_273+4427i others(6): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16951559 | |||||
| chrX:16951559
|
A | ACACCC | 3 | a0001c0001t0002g0049a0001c0001t0005g0048a0001c0001t0005g0050 | 3 | HG00735.hp1 HG03017.hp1 NA18946.hp1 |
intron_variant | MODIFIER | c.273+4426_273+4427i others(7): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16951559 | |||||
| chrX:16951559
|
A | ACC | 2 | a0001c0001t0002g0164a0007c0007t0001g0060 | 2 | HG02135.hp1 HG03491.hp2 |
intron_variant | MODIFIER | c.273+4429_273+4430d others(4): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16951559 | |||||
| chrX:16951559
|
A | ACCC | 1 | a0001c0001t0001g0059 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.273+4428_273+4430d others(5): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16951559 | |||||
| chrX:16951559
|
A | C | 4 | a0001c0001t0001g0078a0001c0001t0001g0165a0001c0001t0002g0003others(1): Show | 4 | HG00438.hp1 HG01109.hp1 HG02293.hp2 others(1): Show |
intron_variant | MODIFIER | c.273+4425A>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16951559 | ||||||
| chrX:16951560
|
C | CA | 1 | a0001c0001t0001g0058 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.273+4426_273+4427i others(3): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16951560 | ||||||
| chrX:16951560
|
C | CACA | 1 | a0001c0001t0001g0047 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.273+4426_273+4427i others(5): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16951560 | ||||||
| chrX:16951560
|
C | CACACACA others(2): Show |
1 | a0001c0001t0001g0031 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.273+4426_273+4427i others(11): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16951560 | ||||||
| chrX:16951561
|
C | A | 1 | a0001c0001t0001g0142 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.273+4427C>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16951561 | ||||||
| chrX:16951745
|
T | C | 1 | a0001c0001t0002g0104 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.273+4611T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16951745 | ||||||
| chrX:16951794
|
C | T | 1 | a0001c0001t0003g0010 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.273+4660C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16951794 | ||||||
| chrX:16951882
|
A | T | 2 | a0001c0001t0015g0019a0001c0001t0016g0020 | 2 | HG01106.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.273+4748A>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16951882 | ||||||
| chrX:16952138
|
C | T | 10 | a0001c0001t0006g0132a0001c0001t0006g0133a0001c0001t0006g0134others(7): Show | 10 | HG01106.hp1 HG02258.hp1 HG02293.hp1 others(7): Show |
intron_variant | MODIFIER | c.273+5004C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16952138 | ||||||
| chrX:16952355
|
G | T | 1 | a0001c0010t0001g0027 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.273+5221G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16952355 | ||||||
| chrX:16952356
|
C | A | 1 | a0001c0010t0001g0027 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.273+5222C>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16952356 | ||||||
| chrX:16952482
|
T | TA | 1 | a0001c0001t0001g0146 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.273+5356dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16952482 | |||||
| chrX:16952596
|
C | T | 2 | a0001c0001t0015g0019a0001c0001t0016g0020 | 2 | HG01106.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.273+5462C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16952596 | ||||||
| chrX:16952731
|
AT | A | 1 | a0001c0001t0001g0146 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.273+5603delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16952731 | |||||
| chrX:16952734
|
T | A | 1 | a0001c0001t0001g0061 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.273+5600T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16952734 | ||||||
| chrX:16952779
|
A | G | 1 | a0001c0001t0019g0101 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.273+5645A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16952779 | ||||||
| chrX:16953096
|
AACAAACA others(7): Show |
A | 1 | a0001c0001t0002g0017 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.273+5966_273+5979d others(16): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16953096 | |||||
| chrX:16953098
|
CAA | C | 1 | a0001c0001t0003g0005 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.273+5966_273+5967d others(4): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16953098 | |||||
| chrX:16953100
|
A | AAC | 1 | a0001c0001t0003g0004 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.273+6010_273+6011d others(4): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16953100 | |||||
| chrX:16953100
|
AAC | A | 3 | a0001c0001t0003g0007a0001c0001t0003g0011a0001c0001t0027g0115 | 3 | HG00140.hp1 HG01167.hp1 HG02257.hp2 |
intron_variant | MODIFIER | c.273+6010_273+6011d others(4): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16953100 | |||||
| chrX:16953100
|
AACAC | A | 1 | a0001c0001t0016g0020 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.273+6008_273+6011d others(6): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16953100 | |||||
| chrX:16953100
|
AACACAC | A | 2 | a0001c0001t0015g0019a0001c0001t0025g0024 | 2 | HG01106.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.273+6006_273+6011d others(8): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16953100 | |||||
| chrX:16953100
|
AACACACA others(1): Show |
A | 1 | a0001c0001t0006g0132 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.273+6004_273+6011d others(10): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16953100 | |||||
| chrX:16953100
|
AACACACA others(3): Show |
A | 3 | a0001c0001t0006g0133a0001c0001t0006g0134a0001c0001t0028g0135 | 3 | HG02293.hp1 HG02717.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.273+6002_273+6011d others(12): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16953100 | |||||
| chrX:16953100
|
AACACACA others(5): Show |
A | 8 | a0001c0001t0001g0031a0001c0001t0002g0112a0001c0001t0002g0128others(5): Show | 8 | HG02258.hp1 HG02738.hp1 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.273+6000_273+6011d others(14): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16953100 | |||||
| chrX:16953100
|
AACACACA others(7): Show |
A | 56 | a0001c0001t0001g0023a0001c0001t0001g0056a0001c0001t0001g0067others(53): Show | 56 | HG00438.hp2 HG00621.hp1 HG00738.hp1 others(53): Show |
intron_variant | MODIFIER | c.273+5998_273+6011d others(16): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16953100 | |||||
| chrX:16953100
|
AACACACA others(9): Show |
A | 61 | a0001c0001t0001g0001a0001c0001t0001g0018a0001c0001t0001g0025others(58): Show | 61 | HG00438.hp1 HG00609.hp1 HG00642.hp1 others(58): Show |
intron_variant | MODIFIER | c.273+5996_273+6011d others(18): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16953100 | |||||
| chrX:16953100
|
AACACACA others(11): Show |
A | 20 | a0001c0001t0001g0002a0001c0001t0001g0058a0001c0001t0001g0076others(17): Show | 20 | HG00280.hp1 HG00735.hp1 HG01261.hp1 others(17): Show |
intron_variant | MODIFIER | c.273+5994_273+6011d others(20): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16953100 | |||||
| chrX:16953100
|
AACACACA others(13): Show |
A | 1 | a0001c0001t0001g0093 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.273+5992_273+6011d others(22): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16953100 | |||||
| chrX:16953704
|
CT | C | 1 | a0001c0001t0001g0040 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.273+6574delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16953704 | |||||
| chrX:16954086
|
TG | T | 1 | a0001c0001t0001g0146 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.273+6955delG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16954086 | |||||
| chrX:16954184
|
C | A | 1 | a0001c0001t0001g0031 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.273+7050C>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16954184 | ||||||
| chrX:16954345
|
G | GC | 1 | a0001c0001t0001g0040 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.273+7214dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16954345 | |||||
| chrX:16954393
|
A | G | 8 | a0001c0001t0006g0132a0001c0001t0006g0133a0001c0001t0006g0134others(5): Show | 8 | HG02258.hp1 HG02293.hp1 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.273+7259A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16954393 | ||||||
| chrX:16954441
|
C | A | 1 | a0001c0001t0001g0142 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.273+7307C>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16954441 | ||||||
| chrX:16954456
|
G | GC | 1 | a0001c0001t0001g0040 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.273+7323dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16954456 | |||||
| chrX:16954739
|
C | G | 1 | a0001c0001t0002g0111 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.273+7605C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16954739 | ||||||
| chrX:16954805
|
C | CT | 6 | a0001c0001t0001g0031a0001c0001t0003g0004a0001c0001t0003g0009others(3): Show | 6 | HG01106.hp1 HG02109.hp2 HG03225.hp1 others(3): Show |
intron_variant | MODIFIER | c.273+7694dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16954805 | |||||
| chrX:16954805
|
C | CTT | 26 | a0001c0001t0002g0015a0001c0001t0002g0016a0001c0001t0002g0017others(23): Show | 26 | HG00438.hp2 HG01074.hp1 HG01433.hp1 others(23): Show |
intron_variant | MODIFIER | c.273+7693_273+7694d others(4): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16954805 | |||||
| chrX:16954805
|
C | CTTT | 5 | a0001c0001t0002g0110a0001c0001t0002g0125a0001c0001t0002g0126others(2): Show | 5 | HG00621.hp1 HG02738.hp1 HG03239.hp2 others(2): Show |
intron_variant | MODIFIER | c.273+7692_273+7694d others(5): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16954805 | |||||
| chrX:16954805
|
CT | C | 81 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(78): Show | 81 | HG00280.hp1 HG00438.hp1 HG00609.hp1 others(78): Show |
intron_variant | MODIFIER | c.273+7694delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16954805 | |||||
| chrX:16954805
|
CTT | C | 2 | a0001c0001t0001g0047a0001c0001t0001g0152 | 2 | HG00642.hp1 NA18965.hp1 |
intron_variant | MODIFIER | c.273+7693_273+7694d others(4): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16954805 | |||||
| chrX:16955345
|
C | G | 1 | a0001c0001t0001g0078 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.273+8211C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16955345 | ||||||
| chrX:16955810
|
C | CG | 1 | a0001c0001t0018g0057 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.273+8681dupG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16955810 | |||||
| chrX:16956121
|
C | G | 2 | a0001c0001t0015g0019a0001c0001t0016g0020 | 2 | HG01106.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.273+8987C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16956121 | ||||||
| chrX:16956197
|
CT | C | 53 | a0001c0001t0001g0023a0001c0001t0001g0031a0001c0001t0001g0056others(50): Show | 53 | HG00438.hp2 HG00621.hp1 HG01069.hp1 others(50): Show |
intron_variant | MODIFIER | c.273+9078delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16956197 | |||||
| chrX:16956197
|
CTT | C | 3 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0002g0163 | 3 | HG03139.hp1 NA18522.hp1 NA19091.hp1 |
intron_variant | MODIFIER | c.273+9077_273+9078d others(4): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16956197 | |||||
| chrX:16956284
|
G | GT | 4 | a0001c0001t0003g0007a0001c0001t0003g0008a0001c0001t0017g0013others(1): Show | 4 | HG00140.hp1 HG02257.hp1 HG03927.hp2 others(1): Show |
intron_variant | MODIFIER | c.273+9185dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16956284 | |||||
| chrX:16956284
|
G | GTT | 1 | a0001c0001t0003g0010 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.273+9184_273+9185d others(4): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16956284 | |||||
| chrX:16956284
|
GT | G | 2 | a0001c0001t0003g0011a0001c0001t0003g0012 | 2 | HG01167.hp1 NA19057.hp1 |
intron_variant | MODIFIER | c.273+9185delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16956284 | |||||
| chrX:16956284
|
GTTTT | G | 1 | a0001c0001t0027g0115 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.273+9182_273+9185d others(6): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16956284 | |||||
| chrX:16956284
|
GTTTTTT | G | 5 | a0001c0001t0001g0142a0001c0001t0001g0145a0001c0001t0001g0166others(2): Show | 5 | HG02109.hp1 HG03453.hp1 HG03688.hp1 others(2): Show |
intron_variant | MODIFIER | c.273+9180_273+9185d others(8): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16956284 | |||||
| chrX:16956284
|
GTTTTTTT | G | 41 | a0001c0001t0001g0047a0001c0001t0001g0061a0001c0001t0001g0064others(38): Show | 41 | HG00438.hp2 HG00642.hp1 HG00735.hp2 others(38): Show |
intron_variant | MODIFIER | c.273+9179_273+9185d others(9): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16956284 | |||||
| chrX:16956284
|
GTTTTTTT others(1): Show |
G | 102 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(99): Show | 102 | HG00280.hp1 HG00438.hp1 HG00609.hp1 others(99): Show |
intron_variant | MODIFIER | c.273+9178_273+9185d others(10): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16956284 | |||||
| chrX:16956284
|
GTTTTTTT others(2): Show |
G | 6 | a0001c0001t0001g0041a0001c0001t0001g0091a0001c0001t0001g0146others(3): Show | 6 | HG01106.hp1 HG02723.hp2 HG03471.hp1 others(3): Show |
intron_variant | MODIFIER | c.273+9177_273+9185d others(11): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16956284 | |||||
| chrX:16956325
|
A | G | 8 | a0001c0001t0006g0132a0001c0001t0006g0133a0001c0001t0006g0134others(5): Show | 8 | HG02258.hp1 HG02293.hp1 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.273+9191A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16956325 | ||||||
| chrX:16956719
|
C | T | 1 | a0001c0001t0020g0045 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.273+9585C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16956719 | ||||||
| chrX:16956724
|
T | TA | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.273+9591dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16956724 | |||||
| chrX:16957397
|
C | T | 1 | a0001c0001t0001g0018 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.273+10263C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16957397 | ||||||
| chrX:16957410
|
C | CA | 87 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(84): Show | 87 | HG00280.hp1 HG00438.hp1 HG00609.hp1 others(84): Show |
intron_variant | MODIFIER | c.273+10290dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16957410 | |||||
| chrX:16957410
|
C | CAA | 2 | a0001c0001t0001g0061a0007c0007t0001g0060 | 2 | HG02135.hp1 HG03831.hp1 |
intron_variant | MODIFIER | c.273+10289_273+1029 others(6): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16957410 | |||||
| chrX:16957410
|
CA | C | 1 | a0001c0001t0002g0121 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.273+10290delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16957410 | |||||
| chrX:16957775
|
C | T | 2 | a0001c0001t0001g0056a0001c0001t0001g0068 | 2 | HG03516.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.273+10641C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16957775 | ||||||
| chrX:16959563
|
G | A | 56 | a0001c0001t0001g0023a0001c0001t0001g0031a0001c0001t0001g0056others(53): Show | 56 | HG00438.hp2 HG00621.hp1 HG01069.hp1 others(53): Show |
intron_variant | MODIFIER | c.273+12429G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16959563 | ||||||
| chrX:16960121
|
TG | T | 1 | a0001c0001t0002g0122 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.273+12990delG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16960121 | |||||
| chrX:16960131
|
A | G | 89 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(86): Show | 89 | HG00280.hp1 HG00438.hp1 HG00609.hp1 others(86): Show |
intron_variant | MODIFIER | c.273+12997A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16960131 | ||||||
| chrX:16960140
|
G | A | 1 | a0001c0001t0002g0125 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.273+13006G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16960140 | ||||||
| chrX:16960225
|
G | A | 76 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(73): Show | 76 | HG00438.hp1 HG00609.hp1 HG00642.hp1 others(73): Show |
intron_variant | MODIFIER | c.273+13091G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16960225 | ||||||
| chrX:16960299
|
T | C | 3 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0020g0045 | 3 | HG02572.hp1 HG03139.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.273+13165T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16960299 | ||||||
| chrX:16960329
|
C | T | 2 | a0001c0001t0015g0019a0001c0001t0016g0020 | 2 | HG01106.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.273+13195C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16960329 | ||||||
| chrX:16960378
|
AAG | A | 145 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(142): Show | 145 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(142): Show |
intron_variant | MODIFIER | c.273+13250_273+1325 others(6): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16960378 | |||||
| chrX:16960691
|
A | T | 1 | a0001c0001t0005g0086 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.273+13557A>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16960691 | ||||||
| chrX:16960817
|
A | C | 89 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(86): Show | 89 | HG00280.hp1 HG00438.hp1 HG00609.hp1 others(86): Show |
intron_variant | MODIFIER | c.273+13683A>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16960817 | ||||||
| chrX:16961023
|
A | G | 1 | a0001c0001t0013g0030 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.273+13889A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16961023 | ||||||
| chrX:16961141
|
G | GA | 7 | a0001c0001t0001g0002a0001c0001t0001g0058a0001c0001t0001g0076others(4): Show | 7 | HG02071.hp1 NA18612.hp1 NA18944.hp1 others(4): Show |
intron_variant | MODIFIER | c.273+14010dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16961141 | |||||
| chrX:16961566
|
C | G | 1 | a0001c0001t0001g0077 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.273+14432C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16961566 | ||||||
| chrX:16962276
|
T | TAC | 31 | a0001c0001t0001g0025a0001c0001t0001g0031a0001c0001t0001g0041others(28): Show | 31 | HG00438.hp1 HG00642.hp1 HG00735.hp1 others(28): Show |
intron_variant | MODIFIER | c.273+15190_273+1519 others(6): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16962276 | |||||
| chrX:16962276
|
T | TACAC | 8 | a0001c0001t0001g0018a0001c0001t0001g0157a0001c0001t0001g0160others(5): Show | 8 | HG01358.hp1 HG01433.hp1 HG02040.hp1 others(5): Show |
intron_variant | MODIFIER | c.273+15188_273+1519 others(8): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16962276 | |||||
| chrX:16962276
|
T | TACACAC | 1 | a0001c0001t0017g0013 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.273+15186_273+1519 others(10): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16962276 | |||||
| chrX:16962276
|
T | TACACACA others(3): Show |
1 | a0001c0001t0005g0036 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.273+15182_273+1519 others(14): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16962276 | |||||
| chrX:16962276
|
TAC | T | 45 | a0001c0001t0001g0002a0001c0001t0001g0028a0001c0001t0001g0040others(42): Show | 45 | HG00140.hp1 HG00280.hp1 HG00735.hp2 others(42): Show |
intron_variant | MODIFIER | c.273+15190_273+1519 others(6): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16962276 | |||||
| chrX:16962276
|
TACAC | T | 35 | a0001c0001t0001g0034a0001c0001t0001g0037a0001c0001t0001g0054others(32): Show | 35 | HG00438.hp2 HG00609.hp1 HG00621.hp1 others(32): Show |
intron_variant | MODIFIER | c.273+15188_273+1519 others(8): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16962276 | |||||
| chrX:16962276
|
TACACAC | T | 13 | a0001c0001t0001g0023a0001c0001t0001g0058a0001c0001t0001g0068others(10): Show | 13 | HG01071.hp2 HG01261.hp1 HG02027.hp1 others(10): Show |
intron_variant | MODIFIER | c.273+15186_273+1519 others(10): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16962276 | |||||
| chrX:16962276
|
TACACACA others(1): Show |
T | 7 | a0001c0001t0002g0126a0001c0001t0002g0127a0001c0001t0006g0133others(4): Show | 7 | HG02293.hp1 HG02717.hp1 HG02922.hp1 others(4): Show |
intron_variant | MODIFIER | c.273+15184_273+1519 others(12): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16962276 | |||||
| chrX:16962276
|
TACACACA others(3): Show |
T | 1 | a0001c0001t0002g0125 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.273+15182_273+1519 others(14): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16962276 | |||||
| chrX:16962276
|
TACACACA others(5): Show |
T | 2 | a0001c0001t0001g0056a0001c0001t0027g0115 | 2 | HG02257.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.273+15180_273+1519 others(16): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16962276 | |||||
| chrX:16962457
|
GA | G | 1 | a0001c0001t0001g0077 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.273+15330delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16962457 | |||||
| chrX:16962533
|
A | G | 26 | a0001c0001t0001g0018a0001c0001t0001g0037a0001c0001t0001g0093others(23): Show | 26 | HG01071.hp2 HG01243.hp1 HG01928.hp1 others(23): Show |
intron_variant | MODIFIER | c.273+15399A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16962533 | ||||||
| chrX:16963031
|
A | G | 155 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(152): Show | 155 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(152): Show |
intron_variant | MODIFIER | c.273+15897A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16963031 | ||||||
| chrX:16963100
|
TA | T | 3 | a0001c0001t0001g0077a0001c0001t0002g0049a0008c0002t0001g0038 | 3 | NA18946.hp1 NA18948.hp1 NA19056.hp1 |
intron_variant | MODIFIER | c.273+15978delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16963100 | |||||
| chrX:16963556
|
T | C | 13 | a0001c0001t0001g0037a0001c0001t0002g0003a0001c0001t0002g0022others(10): Show | 13 | HG00280.hp1 HG00735.hp1 HG01261.hp1 others(10): Show |
intron_variant | MODIFIER | c.273+16422T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16963556 | ||||||
| chrX:16963559
|
C | T | 1 | a0001c0001t0017g0013 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.273+16425C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16963559 | ||||||
| chrX:16963771
|
G | A | 1 | a0001c0001t0026g0108 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.273+16637G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16963771 | ||||||
| chrX:16964010
|
T | A | 5 | a0001c0001t0001g0103a0001c0001t0009g0136a0001c0001t0009g0141others(2): Show | 5 | HG02258.hp1 HG02486.hp1 HG02922.hp2 others(2): Show |
intron_variant | MODIFIER | c.273+16876T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16964010 | ||||||
| chrX:16964042
|
A | T | 2 | a0001c0001t0015g0019a0001c0001t0016g0020 | 2 | HG01106.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.273+16908A>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16964042 | ||||||
| chrX:16964104
|
G | A | 155 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(152): Show | 155 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(152): Show |
intron_variant | MODIFIER | c.273+16970G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16964104 | ||||||
| chrX:16964166
|
G | A | 2 | a0001c0001t0004g0074a0001c0001t0004g0075 | 2 | HG01069.hp1 HG01071.hp1 |
intron_variant | MODIFIER | c.273+17032G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16964166 | ||||||
| chrX:16964441
|
T | A | 155 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(152): Show | 155 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(152): Show |
intron_variant | MODIFIER | c.273+17307T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16964441 | ||||||
| chrX:16964524
|
C | T | 1 | a0001c0001t0003g0012 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.273+17390C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16964524 | ||||||
| chrX:16964601
|
T | G | 1 | a0006c0006t0005g0032 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.273+17467T>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16964601 | ||||||
| chrX:16964604
|
C | G | 1 | a0006c0006t0005g0032 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.273+17470C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16964604 | ||||||
| chrX:16964651
|
A | G | 1 | a0006c0006t0005g0032 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.273+17517A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16964651 | ||||||
| chrX:16964662
|
A | AC | 4 | a0001c0001t0001g0002a0001c0001t0001g0058a0001c0001t0003g0010others(1): Show | 4 | HG01261.hp1 HG03831.hp2 NA18612.hp1 others(1): Show |
intron_variant | MODIFIER | c.273+17536dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16964662 | |||||
| chrX:16964662
|
AC | A | 9 | a0001c0001t0006g0132a0001c0001t0006g0133a0001c0001t0006g0134others(6): Show | 9 | HG01358.hp1 HG02258.hp1 HG02293.hp1 others(6): Show |
intron_variant | MODIFIER | c.273+17536delC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16964662 | |||||
| chrX:16964670
|
C | T | 1 | a0001c0001t0001g0052 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.273+17536C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16964670 | ||||||
| chrX:16964681
|
T | C | 1 | a0006c0006t0005g0032 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.273+17547T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16964681 | ||||||
| chrX:16964707
|
G | T | 1 | a0006c0006t0005g0032 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.273+17573G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16964707 | ||||||
| chrX:16964736
|
G | A | 1 | a0001c0001t0010g0140 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.273+17602G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16964736 | ||||||
| chrX:16964755
|
C | T | 1 | a0006c0006t0005g0032 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.273+17621C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16964755 | ||||||
| chrX:16964777
|
G | A | 1 | a0006c0006t0005g0032 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.273+17643G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16964777 | ||||||
| chrX:16964780
|
C | T | 1 | a0006c0006t0005g0032 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.273+17646C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16964780 | ||||||
| chrX:16964790
|
A | AC | 56 | a0001c0001t0001g0023a0001c0001t0001g0031a0001c0001t0001g0056others(53): Show | 56 | HG00438.hp2 HG00621.hp1 HG01069.hp1 others(53): Show |
intron_variant | MODIFIER | c.273+17663dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16964790 | |||||
| chrX:16964790
|
A | ACC | 2 | a0001c0001t0002g0128a0001c0001t0007g0109 | 2 | HG02602.hp1 HG02738.hp1 |
intron_variant | MODIFIER | c.273+17662_273+1766 others(6): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16964790 | |||||
| chrX:16964792
|
C | CT | 1 | a0001c0001t0001g0068 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.273+17658_273+1765 others(5): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16964792 | ||||||
| chrX:16964795
|
C | G | 1 | a0006c0006t0005g0032 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.273+17661C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16964795 | ||||||
| chrX:16964834
|
T | G | 1 | a0006c0006t0005g0032 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.273+17700T>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16964834 | ||||||
| chrX:16964859
|
A | G | 155 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(152): Show | 155 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(152): Show |
intron_variant | MODIFIER | c.273+17725A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16964859 | ||||||
| chrX:16964890
|
C | T | 1 | a0001c0001t0002g0113 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.273+17756C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16964890 | ||||||
| chrX:16964895
|
C | T | 1 | a0006c0006t0005g0032 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.273+17761C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16964895 | ||||||
| chrX:16964904
|
A | G | 1 | a0006c0006t0005g0032 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.273+17770A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16964904 | ||||||
| chrX:16964907
|
T | C | 1 | a0006c0006t0005g0032 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.273+17773T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16964907 | ||||||
| chrX:16964907
|
T | TG | 1 | a0001c0001t0011g0124 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.273+17779dupG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16964907 | |||||
| chrX:16964922
|
G | C | 1 | a0006c0006t0005g0032 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.273+17788G>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16964922 | ||||||
| chrX:16964939
|
CG | C | 1 | a0006c0006t0005g0032 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.273+17809delG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16964939 | |||||
| chrX:16964940
|
G | GGGGCGGC others(119): Show |
155 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(152): Show | 155 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(152): Show |
intron_variant | MODIFIER | c.273+17826_273+1782 others(130): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16964940 | |||||
| chrX:16964940
|
G | GGGGCGGC others(120): Show |
3 | a0001c0001t0001g0061a0001c0001t0002g0128a0001c0001t0011g0124 | 3 | HG02738.hp1 HG03831.hp1 HG03927.hp1 |
intron_variant | MODIFIER | c.273+17826_273+1782 others(131): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16964940 | |||||
| chrX:16964940
|
G | GGGGCGGC others(120): Show |
1 | a0001c0001t0001g0155 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.273+17826_273+1782 others(131): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16964940 | |||||
| chrX:16964961
|
T | G | 1 | a0001c0001t0018g0057 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.273+17827T>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16964961 | ||||||
| chrX:16964985
|
C | T | 1 | a0001c0001t0002g0130 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.273+17851C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16964985 | ||||||
| chrX:16964986
|
G | A | 1 | a0001c0001t0001g0094 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.273+17852G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16964986 | ||||||
| chrX:16964987
|
C | G | 1 | a0001c0001t0018g0057 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.273+17853C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16964987 | ||||||
| chrX:16964989
|
C | T | 5 | a0001c0001t0001g0059a0001c0001t0001g0064a0001c0001t0001g0067others(2): Show | 5 | HG00738.hp1 HG01256.hp1 HG01934.hp1 others(2): Show |
intron_variant | MODIFIER | c.273+17855C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16964989 | ||||||
| chrX:16965009
|
C | T | 1 | a0001c0001t0018g0057 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.273+17875C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16965009 | ||||||
| chrX:16965014
|
G | A | 1 | a0001c0001t0001g0081 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.273+17880G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16965014 | ||||||
| chrX:16965022
|
C | T | 1 | a0001c0001t0018g0057 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.273+17888C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16965022 | ||||||
| chrX:16965023
|
G | A | 164 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(161): Show | 164 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(161): Show |
intron_variant | MODIFIER | c.273+17889G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16965023 | ||||||
| chrX:16965031
|
G | A | 164 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(161): Show | 164 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(161): Show |
intron_variant | MODIFIER | c.273+17897G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16965031 | ||||||
| chrX:16965031
|
G | GGGCGGGG others(95): Show |
1 | a0001c0001t0018g0057 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.273+17928_273+1792 others(106): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16965031 | |||||
| chrX:16965044
|
A | AC | 1 | a0001c0001t0001g0061 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.273+17917dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16965044 | |||||
| chrX:16965093
|
A | AC | 1 | a0001c0001t0002g0128 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.273+17966dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16965093 | |||||
| chrX:16965116
|
G | A | 4 | a0001c0001t0001g0037a0001c0001t0001g0142a0001c0001t0001g0143others(1): Show | 4 | HG02015.hp1 HG03688.hp1 HG04115.hp1 others(1): Show |
intron_variant | MODIFIER | c.273+17982G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16965116 | ||||||
| chrX:16965132
|
T | TG | 1 | a0001c0001t0001g0061 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.273+18004dupG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16965132 | |||||
| chrX:16965142
|
A | AC | 4 | a0001c0001t0001g0061a0001c0001t0001g0107a0001c0001t0002g0128others(1): Show | 4 | HG02109.hp2 HG02647.hp1 HG02738.hp1 others(1): Show |
intron_variant | MODIFIER | c.273+18015dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16965142 | |||||
| chrX:16965155
|
C | T | 2 | a0001c0001t0015g0019a0001c0001t0016g0020 | 2 | HG01106.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.273+18021C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16965155 | ||||||
| chrX:16965239
|
GGACGGGG others(42): Show |
G | 2 | a0001c0001t0008g0021a0001c0001t0008g0046 | 2 | HG03098.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.273+18136_273+1818 others(53): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16965239 | |||||
| chrX:16965247
|
C | T | 1 | a0001c0001t0002g0049 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.273+18113C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16965247 | ||||||
| chrX:16965270
|
T | TC | 1 | a0001c0001t0001g0037 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.273+18142dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16965270 | |||||
| chrX:16965318
|
A | AC | 3 | a0001c0001t0001g0037a0001c0001t0001g0064a0001c0001t0002g0128 | 3 | HG01934.hp1 HG02738.hp1 HG04199.hp1 |
intron_variant | MODIFIER | c.273+18191dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16965318 | |||||
| chrX:16965340
|
C | T | 4 | a0001c0001t0001g0056a0001c0001t0001g0068a0001c0001t0008g0021others(1): Show | 4 | HG03098.hp1 HG03209.hp1 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.273+18206C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16965340 | ||||||
| chrX:16965357
|
C | CG | 1 | a0001c0001t0001g0064 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.273+18229dupG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16965357 | |||||
| chrX:16965367
|
A | AC | 2 | a0001c0001t0002g0122a0001c0001t0003g0010 | 2 | HG03831.hp2 NA19058.hp1 |
intron_variant | MODIFIER | c.273+18240dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16965367 | |||||
| chrX:16965486
|
G | A | 1 | a0001c0001t0002g0049 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.273+18352G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16965486 | ||||||
| chrX:16965644
|
C | T | 2 | a0001c0001t0015g0019a0001c0001t0016g0020 | 2 | HG01106.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.273+18510C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16965644 | ||||||
| chrX:16965654
|
T | C | 2 | a0001c0001t0015g0019a0001c0001t0016g0020 | 2 | HG01106.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.273+18520T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16965654 | ||||||
| chrX:16965685
|
G | A | 1 | a0001c0001t0003g0010 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.273+18551G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16965685 | ||||||
| chrX:16965893
|
C | T | 1 | a0001c0001t0001g0099 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.273+18759C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16965893 | ||||||
| chrX:16965913
|
A | G | 155 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(152): Show | 155 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(152): Show |
intron_variant | MODIFIER | c.273+18779A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16965913 | ||||||
| chrX:16965982
|
C | T | 1 | a0001c0001t0002g0122 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.273+18848C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16965982 | ||||||
| chrX:16966074
|
C | T | 1 | a0001c0001t0028g0135 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.273+18940C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16966074 | ||||||
| chrX:16966122
|
G | A | 8 | a0001c0001t0006g0132a0001c0001t0006g0133a0001c0001t0006g0134others(5): Show | 8 | HG02258.hp1 HG02293.hp1 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.273+18988G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16966122 | ||||||
| chrX:16966805
|
G | C | 1 | a0001c0001t0001g0091 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.273+19671G>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16966805 | ||||||
| chrX:16967414
|
G | A | 145 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(142): Show | 145 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(142): Show |
intron_variant | MODIFIER | c.273+20280G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16967414 | ||||||
| chrX:16967460
|
G | T | 26 | a0001c0001t0002g0015a0001c0001t0002g0016a0001c0001t0002g0017others(23): Show | 26 | HG00438.hp2 HG00621.hp1 HG01074.hp1 others(23): Show |
intron_variant | MODIFIER | c.273+20326G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16967460 | ||||||
| chrX:16967579
|
G | A | 1 | a0001c0001t0001g0144 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.273+20445G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16967579 | ||||||
| chrX:16967845
|
C | CT | 1 | a0001c0001t0007g0109 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.273+20725dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16967845 | |||||
| chrX:16968168
|
A | C | 2 | a0001c0001t0001g0042a0001c0001t0001g0043 | 2 | HG01515.hp1 HG01517.hp1 |
intron_variant | MODIFIER | c.273+21034A>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16968168 | ||||||
| chrX:16968337
|
G | A | 1 | a0001c0001t0015g0019 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.273+21203G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16968337 | ||||||
| chrX:16968443
|
C | T | 3 | a0001c0001t0005g0048a0001c0001t0005g0051a0006c0006t0005g0032 | 3 | HG00280.hp1 HG01358.hp1 HG03017.hp1 |
intron_variant | MODIFIER | c.273+21309C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16968443 | ||||||
| chrX:16968452
|
C | T | 1 | a0001c0001t0001g0053 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.273+21318C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16968452 | ||||||
| chrX:16968463
|
G | A | 1 | a0001c0001t0001g0066 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.273+21329G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16968463 | ||||||
| chrX:16968501
|
C | T | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.273+21367C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16968501 | ||||||
| chrX:16968502
|
G | A | 1 | a0001c0001t0001g0018 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.273+21368G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16968502 | ||||||
| chrX:16968513
|
C | CG | 2 | a0001c0001t0011g0124a0004c0004t0003g0014 | 2 | HG03927.hp1 HG03927.hp2 |
intron_variant | MODIFIER | c.273+21385dupG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16968513 | |||||
| chrX:16968523
|
A | AC | 1 | a0001c0001t0002g0128 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.273+21396dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16968523 | |||||
| chrX:16968540
|
C | T | 1 | a0001c0001t0001g0018 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.273+21406C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16968540 | ||||||
| chrX:16968591
|
C | T | 8 | a0001c0001t0001g0056a0001c0001t0001g0068a0001c0001t0001g0072others(5): Show | 8 | HG02572.hp1 HG02922.hp1 HG03098.hp1 others(5): Show |
intron_variant | MODIFIER | c.273+21457C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16968591 | ||||||
| chrX:16968669
|
A | G | 1 | a0001c0001t0001g0103 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.273+21535A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16968669 | ||||||
| chrX:16968689
|
C | CG | 1 | a0004c0004t0003g0014 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.273+21561dupG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16968689 | |||||
| chrX:16968699
|
A | AC | 2 | a0001c0001t0002g0128a0001c0001t0003g0010 | 2 | HG02738.hp1 HG03831.hp2 |
intron_variant | MODIFIER | c.273+21573dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16968699 | |||||
| chrX:16968706
|
C | A | 1 | a0001c0001t0001g0018 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.273+21572C>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16968706 | ||||||
| chrX:16968797
|
G | A | 2 | a0001c0001t0009g0136a0001c0001t0009g0141 | 2 | HG02922.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.273+21663G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16968797 | ||||||
| chrX:16968905
|
T | C | 155 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(152): Show | 155 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(152): Show |
intron_variant | MODIFIER | c.273+21771T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16968905 | ||||||
| chrX:16968948
|
A | AG | 1 | a0001c0001t0017g0013 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.273+21818dupG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16968948 | |||||
| chrX:16968974
|
C | A | 1 | a0001c0001t0001g0037 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.273+21840C>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16968974 | ||||||
| chrX:16969079
|
T | A | 1 | a0001c0001t0005g0050 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.273+21945T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16969079 | ||||||
| chrX:16969143
|
A | ACGCTCCT others(33): Show |
1 | a0001c0001t0008g0021 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.273+22041_273+2208 others(44): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16969143 | |||||
| chrX:16969148
|
C | T | 1 | a0001c0001t0001g0064 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.273+22014C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16969148 | ||||||
| chrX:16969170
|
C | T | 1 | a0001c0001t0001g0052 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.273+22036C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16969170 | ||||||
| chrX:16969243
|
T | C | 7 | a0001c0001t0004g0044a0001c0001t0004g0074a0001c0001t0004g0075others(4): Show | 7 | HG01069.hp1 HG01071.hp1 HG02109.hp1 others(4): Show |
intron_variant | MODIFIER | c.273+22109T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16969243 | ||||||
| chrX:16969318
|
C | CG | 3 | a0001c0001t0006g0132a0001c0001t0011g0124a0006c0006t0005g0032 | 3 | HG01358.hp1 HG03927.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.273+22188dupG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16969318 | |||||
| chrX:16969449
|
T | C | 1 | a0001c0001t0003g0012 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.273+22315T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16969449 | ||||||
| chrX:16969508
|
C | A | 1 | a0001c0001t0001g0001 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.273+22374C>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16969508 | ||||||
| chrX:16969508
|
C | G | 154 | a0001c0001t0001g0002a0001c0001t0001g0018a0001c0001t0001g0023others(151): Show | 154 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(151): Show |
intron_variant | MODIFIER | c.273+22374C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16969508 | ||||||
| chrX:16969532
|
C | T | 2 | a0001c0001t0001g0002a0001c0001t0001g0058 | 2 | NA18612.hp1 NA18971.hp1 |
intron_variant | MODIFIER | c.273+22398C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16969532 | ||||||
| chrX:16969587
|
G | A | 1 | a0001c0001t0001g0031 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.273+22453G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16969587 | ||||||
| chrX:16969753
|
C | CGAGAGGG others(7): Show |
2 | a0001c0001t0002g0049a0001c0001t0003g0005 | 2 | HG01517.hp2 NA18946.hp1 |
intron_variant | MODIFIER | c.273+22666_273+2267 others(18): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16969753 | |||||
| chrX:16969753
|
C | G | 2 | a0001c0001t0015g0019a0001c0001t0016g0020 | 2 | HG01106.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.273+22619C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16969753 | ||||||
| chrX:16969753
|
CGAGAGGG others(7): Show |
C | 28 | a0001c0001t0001g0018a0001c0001t0001g0037a0001c0001t0001g0091others(25): Show | 28 | HG01071.hp2 HG01243.hp1 HG01928.hp1 others(25): Show |
intron_variant | MODIFIER | c.273+22666_273+2267 others(18): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16969753 | |||||
| chrX:16970179
|
TTGTC | T | 1 | a0001c0001t0005g0033 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.273+23049_273+2305 others(8): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16970179 | |||||
| chrX:16970197
|
C | CT | 6 | a0001c0001t0001g0071a0001c0001t0001g0150a0001c0001t0001g0153others(3): Show | 6 | HG00735.hp1 HG03831.hp2 NA18967.hp1 others(3): Show |
intron_variant | MODIFIER | c.273+23080dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16970197 | |||||
| chrX:16970197
|
CT | C | 2 | a0001c0001t0009g0136a0001c0001t0015g0019 | 2 | HG01106.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.273+23080delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16970197 | |||||
| chrX:16971099
|
A | G | 1 | a0001c0001t0002g0163 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.273+23965A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16971099 | ||||||
| chrX:16971331
|
A | T | 8 | a0001c0001t0006g0132a0001c0001t0006g0133a0001c0001t0006g0134others(5): Show | 8 | HG02258.hp1 HG02293.hp1 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.273+24197A>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16971331 | ||||||
| chrX:16971697
|
C | T | 1 | a0001c0001t0028g0135 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.273+24563C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16971697 | ||||||
| chrX:16971827
|
C | G | 3 | a0001c0001t0001g0099a0001c0001t0001g0102a0001c0001t0002g0097 | 3 | HG01099.hp1 HG01943.hp1 HG02300.hp2 |
intron_variant | MODIFIER | c.273+24693C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16971827 | ||||||
| chrX:16972335
|
C | T | 1 | a0001c0001t0002g0163 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.273+25201C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16972335 | ||||||
| chrX:16972374
|
A | G | 1 | a0001c0001t0002g0105 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.273+25240A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16972374 | ||||||
| chrX:16972415
|
A | T | 1 | a0001c0001t0001g0040 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.273+25281A>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16972415 | ||||||
| chrX:16972562
|
T | C | 1 | a0001c0001t0001g0069 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.273+25428T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16972562 | ||||||
| chrX:16972823
|
C | T | 1 | a0001c0001t0003g0011 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.273+25689C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16972823 | ||||||
| chrX:16972876
|
A | G | 1 | a0002c0009t0001g0063 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.273+25742A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16972876 | ||||||
| chrX:16973795
|
TA | T | 8 | a0001c0001t0006g0132a0001c0001t0006g0133a0001c0001t0006g0134others(5): Show | 8 | HG02258.hp1 HG02293.hp1 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.273+26662delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16973795 | ||||||
| chrX:16974433
|
T | G | 145 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(142): Show | 145 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(142): Show |
intron_variant | MODIFIER | c.273+27299T>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16974433 | ||||||
| chrX:16974570
|
G | A | 1 | a0001c0001t0002g0128 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.273+27436G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16974570 | ||||||
| chrX:16975478
|
G | GT | 1 | a0001c0001t0001g0150 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.273+28353dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16975478 | |||||
| chrX:16975535
|
G | A | 1 | a0001c0001t0002g0117 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.273+28401G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16975535 | ||||||
| chrX:16975557
|
T | TA | 1 | a0001c0001t0001g0040 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.273+28424dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16975557 | |||||
| chrX:16975855
|
A | G | 2 | a0001c0001t0001g0096a0001c0001t0001g0107 | 2 | HG01071.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.273+28721A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16975855 | ||||||
| chrX:16976432
|
T | G | 55 | a0001c0001t0001g0023a0001c0001t0001g0031a0001c0001t0001g0056others(52): Show | 55 | HG00438.hp2 HG00621.hp1 HG01069.hp1 others(52): Show |
intron_variant | MODIFIER | c.273+29298T>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16976432 | ||||||
| chrX:16976645
|
A | AG | 1 | a0001c0001t0001g0147 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.273+29517dupG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16976645 | |||||
| chrX:16977025
|
G | A | 155 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(152): Show | 155 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(152): Show |
intron_variant | MODIFIER | c.274-29196G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16977025 | ||||||
| chrX:16977279
|
T | C | 2 | a0001c0001t0006g0132a0001c0001t0006g0133 | 2 | HG02717.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.274-28942T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16977279 | ||||||
| chrX:16977284
|
C | CT | 1 | a0001c0001t0027g0115 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.274-28936dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16977284 | |||||
| chrX:16977499
|
G | C | 145 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(142): Show | 145 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(142): Show |
intron_variant | MODIFIER | c.274-28722G>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16977499 | ||||||
| chrX:16977547
|
C | T | 1 | a0001c0001t0006g0134 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.274-28674C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16977547 | ||||||
| chrX:16977555
|
T | G | 8 | a0001c0001t0006g0132a0001c0001t0006g0133a0001c0001t0006g0134others(5): Show | 8 | HG02258.hp1 HG02293.hp1 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.274-28666T>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16977555 | ||||||
| chrX:16977560
|
A | T | 1 | a0001c0001t0001g0166 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.274-28661A>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16977560 | ||||||
| chrX:16977585
|
A | G | 155 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(152): Show | 155 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(152): Show |
intron_variant | MODIFIER | c.274-28636A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16977585 | ||||||
| chrX:16977687
|
G | T | 7 | a0001c0001t0001g0002a0001c0001t0001g0058a0001c0001t0001g0076others(4): Show | 7 | HG02071.hp1 NA18612.hp1 NA18944.hp1 others(4): Show |
intron_variant | MODIFIER | c.274-28534G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16977687 | ||||||
| chrX:16977716
|
TA | T | 156 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(153): Show | 156 | HG00140.hp1 HG00280.hp1 HG00438.hp2 others(153): Show |
intron_variant | MODIFIER | c.274-28487delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16977716 | |||||
| chrX:16977763
|
T | C | 1 | a0001c0001t0005g0033 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.274-28458T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16977763 | ||||||
| chrX:16978057
|
A | G | 4 | a0001c0001t0002g0106a0001c0001t0002g0121a0001c0001t0002g0131others(1): Show | 4 | HG01074.hp1 HG02735.hp1 NA20805.hp1 others(1): Show |
intron_variant | MODIFIER | c.274-28164A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16978057 | ||||||
| chrX:16978506
|
CT | C | 1 | a0001c0001t0001g0040 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.274-27704delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16978506 | |||||
| chrX:16978704
|
A | G | 1 | a0001c0001t0002g0121 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.274-27517A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16978704 | ||||||
| chrX:16978756
|
C | T | 1 | a0001c0001t0001g0093 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.274-27465C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16978756 | ||||||
| chrX:16978767
|
T | C | 3 | a0001c0001t0001g0154a0001c0001t0001g0158a0001c0001t0001g0160 | 3 | HG02129.hp1 NA18945.hp1 NA19060.hp1 |
intron_variant | MODIFIER | c.274-27454T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16978767 | ||||||
| chrX:16979795
|
C | CTT | 6 | a0001c0001t0001g0031a0001c0001t0001g0081a0001c0001t0001g0082others(3): Show | 6 | HG02055.hp1 HG02965.hp1 HG03471.hp1 others(3): Show |
intron_variant | MODIFIER | c.274-26413_274-2641 others(6): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16979795 | |||||
| chrX:16979795
|
CT | C | 1 | a0001c0001t0004g0100 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.274-26412delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16979795 | |||||
| chrX:16979979
|
C | T | 1 | a0001c0001t0001g0093 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.274-26242C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16979979 | ||||||
| chrX:16980110
|
G | GT | 2 | a0001c0001t0001g0153a0001c0001t0002g0129 | 2 | NA19000.hp1 NA19066.hp1 |
intron_variant | MODIFIER | c.274-26095dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16980110 | |||||
| chrX:16980110
|
GT | G | 1 | a0001c0001t0008g0046 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.274-26095delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16980110 | |||||
| chrX:16980306
|
AT | A | 1 | a0001c0001t0001g0040 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.274-25910delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16980306 | |||||
| chrX:16980522
|
C | T | 1 | a0001c0001t0027g0115 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.274-25699C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16980522 | ||||||
| chrX:16980540
|
A | T | 2 | a0001c0001t0001g0152a0001c0001t0001g0153 | 2 | NA18965.hp1 NA19000.hp1 |
intron_variant | MODIFIER | c.274-25681A>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16980540 | ||||||
| chrX:16980807
|
C | T | 2 | a0001c0001t0015g0019a0001c0001t0016g0020 | 2 | HG01106.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.274-25414C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16980807 | ||||||
| chrX:16980815
|
A | AC | 1 | a0001c0001t0001g0166 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.274-25403dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16980815 | |||||
| chrX:16981227
|
A | G | 2 | a0001c0001t0015g0019a0001c0001t0016g0020 | 2 | HG01106.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.274-24994A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16981227 | ||||||
| chrX:16981482
|
G | A | 1 | a0001c0001t0001g0031 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.274-24739G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16981482 | ||||||
| chrX:16981644
|
T | TC | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.274-24575dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16981644 | |||||
| chrX:16981721
|
T | TA | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.274-24499dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16981721 | |||||
| chrX:16981919
|
T | TA | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.274-24301dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16981919 | |||||
| chrX:16981942
|
C | T | 1 | a0001c0001t0003g0004 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.274-24279C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16981942 | ||||||
| chrX:16981965
|
G | GC | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.274-24250dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16981965 | |||||
| chrX:16982313
|
G | A | 2 | a0001c0001t0001g0165a0001c0001t0001g0166 | 2 | HG00438.hp1 NA18974.hp1 |
intron_variant | MODIFIER | c.274-23908G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16982313 | ||||||
| chrX:16982511
|
C | T | 1 | a0001c0001t0001g0054 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.274-23710C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16982511 | ||||||
| chrX:16983194
|
G | GA | 50 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0025others(47): Show | 50 | HG00438.hp1 HG00609.hp1 HG00642.hp1 others(47): Show |
intron_variant | MODIFIER | c.274-23019dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16983194 | |||||
| chrX:16983556
|
G | A | 1 | a0001c0001t0007g0109 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.274-22665G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16983556 | ||||||
| chrX:16983809
|
A | G | 56 | a0001c0001t0001g0023a0001c0001t0001g0031a0001c0001t0001g0056others(53): Show | 56 | HG00438.hp2 HG00621.hp1 HG01069.hp1 others(53): Show |
intron_variant | MODIFIER | c.274-22412A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16983809 | ||||||
| chrX:16984245
|
A | AG | 1 | a0001c0001t0002g0015 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.274-21973dupG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16984245 | |||||
| chrX:16984322
|
G | A | 2 | a0001c0001t0008g0021a0001c0001t0008g0046 | 2 | HG03098.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.274-21899G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16984322 | ||||||
| chrX:16984415
|
A | G | 2 | a0001c0001t0015g0019a0001c0001t0016g0020 | 2 | HG01106.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.274-21806A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16984415 | ||||||
| chrX:16985365
|
A | T | 1 | a0001c0001t0002g0111 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.274-20856A>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16985365 | ||||||
| chrX:16985385
|
A | G | 1 | a0001c0001t0001g0078 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.274-20836A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16985385 | ||||||
| chrX:16985538
|
T | A | 1 | a0001c0001t0025g0024 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.274-20683T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16985538 | ||||||
| chrX:16985614
|
G | A | 145 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(142): Show | 145 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(142): Show |
intron_variant | MODIFIER | c.274-20607G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16985614 | ||||||
| chrX:16986053
|
T | TA | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.274-20163dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16986053 | |||||
| chrX:16986112
|
A | G | 2 | a0001c0001t0015g0019a0001c0001t0016g0020 | 2 | HG01106.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.274-20109A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16986112 | ||||||
| chrX:16986233
|
G | C | 41 | a0001c0001t0001g0001a0001c0001t0001g0025a0001c0001t0001g0028others(38): Show | 41 | HG00438.hp1 HG00609.hp1 HG00642.hp1 others(38): Show |
intron_variant | MODIFIER | c.274-19988G>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16986233 | ||||||
| chrX:16986851
|
C | T | 2 | a0001c0001t0001g0076a0001c0001t0001g0095 | 2 | NA18944.hp1 NA19007.hp1 |
intron_variant | MODIFIER | c.274-19370C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16986851 | ||||||
| chrX:16986875
|
G | A | 1 | a0001c0001t0005g0050 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.274-19346G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16986875 | ||||||
| chrX:16986910
|
A | AT | 1 | a0001c0001t0002g0128 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.274-19296dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16986910 | |||||
| chrX:16986910
|
AT | A | 3 | a0001c0001t0001g0001a0001c0001t0001g0066a0001c0003t0001g0055 | 3 | HG00735.hp2 HG01192.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.274-19296delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16986910 | |||||
| chrX:16987920
|
G | A | 1 | a0001c0001t0002g0125 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.274-18301G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16987920 | ||||||
| chrX:16988560
|
A | C | 1 | a0001c0001t0023g0026 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.274-17661A>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16988560 | ||||||
| chrX:16988566
|
C | CAATGCTG others(216): Show |
1 | a0001c0001t0001g0059 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.274-17614_274-1739 others(227): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16988566 | |||||
| chrX:16988981
|
C | G | 1 | a0001c0001t0001g0156 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.274-17240C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16988981 | ||||||
| chrX:16989239
|
A | T | 1 | a0001c0001t0001g0073 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.274-16982A>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16989239 | ||||||
| chrX:16989251
|
C | CA | 1 | a0001c0001t0003g0009 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.274-16955dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16989251 | |||||
| chrX:16989251
|
CA | C | 140 | a0001c0001t0001g0002a0001c0001t0001g0018a0001c0001t0001g0023others(137): Show | 140 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(137): Show |
intron_variant | MODIFIER | c.274-16955delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16989251 | |||||
| chrX:16989251
|
CAA | C | 2 | a0001c0001t0001g0001a0001c0001t0001g0166 | 2 | HG01258.hp1 NA18974.hp1 |
intron_variant | MODIFIER | c.274-16956_274-1695 others(6): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16989251 | |||||
| chrX:16989251
|
CAAA | C | 2 | a0001c0001t0015g0019a0001c0001t0016g0020 | 2 | HG01106.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.274-16957_274-1695 others(7): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16989251 | |||||
| chrX:16990659
|
C | T | 1 | a0001c0001t0001g0023 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.274-15562C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16990659 | ||||||
| chrX:16990775
|
G | A | 2 | a0001c0001t0015g0019a0001c0001t0016g0020 | 2 | HG01106.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.274-15446G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16990775 | ||||||
| chrX:16990808
|
A | AT | 1 | a0001c0001t0001g0041 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.274-15410dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16990808 | |||||
| chrX:16991023
|
C | T | 155 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(152): Show | 155 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(152): Show |
intron_variant | MODIFIER | c.274-15198C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16991023 | ||||||
| chrX:16991065
|
G | A | 8 | a0001c0001t0006g0132a0001c0001t0006g0133a0001c0001t0006g0134others(5): Show | 8 | HG02258.hp1 HG02293.hp1 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.274-15156G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16991065 | ||||||
| chrX:16991468
|
T | C | 1 | a0001c0001t0018g0057 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.274-14753T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16991468 | ||||||
| chrX:16991782
|
G | A | 1 | a0001c0001t0001g0079 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.274-14439G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16991782 | ||||||
| chrX:16992533
|
A | G | 1 | a0001c0001t0001g0065 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.274-13688A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16992533 | ||||||
| chrX:16992627
|
A | T | 1 | a0001c0001t0022g0098 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.274-13594A>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16992627 | ||||||
| chrX:16993057
|
G | A | 1 | a0001c0001t0001g0023 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.274-13164G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16993057 | ||||||
| chrX:16993223
|
T | C | 1 | a0001c0001t0001g0018 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.274-12998T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16993223 | ||||||
| chrX:16993669
|
C | T | 1 | a0001c0001t0002g0164 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.274-12552C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16993669 | ||||||
| chrX:16993926
|
C | T | 1 | a0001c0001t0002g0117 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.274-12295C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16993926 | ||||||
| chrX:16994337
|
ATG | A | 1 | a0001c0001t0020g0045 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.274-11878_274-1187 others(6): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16994337 | |||||
| chrX:16994345
|
A | T | 8 | a0001c0001t0004g0044a0001c0001t0004g0074a0001c0001t0004g0075others(5): Show | 8 | HG01069.hp1 HG01071.hp1 HG02109.hp1 others(5): Show |
intron_variant | MODIFIER | c.274-11876A>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16994345 | ||||||
| chrX:16994372
|
C | CAT | 61 | a0001c0001t0001g0023a0001c0001t0001g0031a0001c0001t0001g0072others(58): Show | 61 | HG00438.hp2 HG00621.hp1 HG01069.hp1 others(58): Show |
intron_variant | MODIFIER | c.274-11841_274-1184 others(6): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16994372 | |||||
| chrX:16994372
|
CAT | C | 1 | a0001c0001t0011g0124 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.274-11841_274-1184 others(6): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16994372 | |||||
| chrX:16994382
|
C | T | 88 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(85): Show | 88 | HG00280.hp1 HG00438.hp1 HG00609.hp1 others(85): Show |
intron_variant | MODIFIER | c.274-11839C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16994382 | ||||||
| chrX:16995127
|
G | T | 2 | a0001c0001t0001g0042a0001c0001t0001g0043 | 2 | HG01515.hp1 HG01517.hp1 |
intron_variant | MODIFIER | c.274-11094G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16995127 | ||||||
| chrX:16995765
|
G | A | 1 | a0001c0001t0001g0081 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.274-10456G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16995765 | ||||||
| chrX:16995843
|
T | C | 56 | a0001c0001t0001g0023a0001c0001t0001g0031a0001c0001t0001g0056others(53): Show | 56 | HG00438.hp2 HG00621.hp1 HG01069.hp1 others(53): Show |
intron_variant | MODIFIER | c.274-10378T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16995843 | ||||||
| chrX:16996059
|
C | A | 1 | a0001c0001t0016g0020 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.274-10162C>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16996059 | ||||||
| chrX:16996068
|
T | TAAGGTTT others(2): Show |
2 | a0001c0001t0015g0019a0001c0001t0016g0020 | 2 | HG01106.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.274-10150_274-1014 others(13): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16996068 | |||||
| chrX:16996137
|
G | A | 1 | a0001c0001t0027g0115 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.274-10084G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16996137 | ||||||
| chrX:16996241
|
T | C | 2 | a0001c0001t0001g0037a0001c0001t0005g0036 | 2 | HG04199.hp1 NA18990.hp1 |
intron_variant | MODIFIER | c.274-9980T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16996241 | ||||||
| chrX:16996330
|
C | T | 1 | a0001c0001t0002g0022 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.274-9891C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16996330 | ||||||
| chrX:16996546
|
T | G | 1 | a0001c0001t0005g0048 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.274-9675T>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16996546 | ||||||
| chrX:16996683
|
T | C | 1 | a0001c0001t0001g0103 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.274-9538T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16996683 | ||||||
| chrX:16997011
|
A | C | 2 | a0001c0001t0008g0021a0001c0001t0008g0046 | 2 | HG03098.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.274-9210A>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16997011 | ||||||
| chrX:16997828
|
A | G | 4 | a0001c0001t0001g0093a0001c0001t0001g0096a0001c0001t0001g0103others(1): Show | 4 | HG01071.hp2 HG01243.hp1 HG02486.hp1 others(1): Show |
intron_variant | MODIFIER | c.274-8393A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16997828 | ||||||
| chrX:16997878
|
T | C | 3 | a0001c0001t0002g0015a0001c0001t0002g0016a0001c0001t0002g0017 | 3 | NA18955.hp1 NA18962.hp1 NA19076.hp1 |
intron_variant | MODIFIER | c.274-8343T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16997878 | ||||||
| chrX:16997936
|
G | A | 1 | a0001c0001t0006g0132 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.274-8285G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16997936 | ||||||
| chrX:16998017
|
A | G | 161 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(158): Show | 161 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(158): Show |
intron_variant | MODIFIER | c.274-8204A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16998017 | ||||||
| chrX:16998069
|
A | AC | 2 | a0001c0001t0003g0012a0001c0001t0017g0013 | 2 | NA19057.hp1 NA19083.hp1 |
intron_variant | MODIFIER | c.274-8146dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16998069 | |||||
| chrX:16998075
|
C | T | 8 | a0001c0001t0006g0132a0001c0001t0006g0133a0001c0001t0006g0134others(5): Show | 8 | HG02258.hp1 HG02293.hp1 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.274-8146C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16998075 | ||||||
| chrX:16998083
|
CA | C | 155 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(152): Show | 155 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(152): Show |
intron_variant | MODIFIER | c.274-8131delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16998083 | |||||
| chrX:16998136
|
A | G | 1 | a0001c0001t0003g0008 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.274-8085A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16998136 | ||||||
| chrX:16998245
|
T | TA | 1 | a0001c0001t0003g0004 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.274-7967dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16998245 | |||||
| chrX:16998337
|
C | T | 1 | a0001c0001t0015g0019 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.274-7884C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16998337 | ||||||
| chrX:16999368
|
A | AT | 16 | a0001c0001t0001g0028a0001c0001t0001g0037a0001c0001t0001g0066others(13): Show | 16 | HG00621.hp1 HG00735.hp2 HG00738.hp1 others(13): Show |
intron_variant | MODIFIER | c.274-6829dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16999368 | |||||
| chrX:16999368
|
A | ATT | 1 | a0001c0001t0008g0046 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.274-6830_274-6829d others(4): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16999368 | |||||
| chrX:16999368
|
AT | A | 8 | a0001c0001t0002g0122a0001c0001t0003g0012a0001c0001t0004g0074others(5): Show | 8 | HG01069.hp1 HG02293.hp1 HG03486.hp1 others(5): Show |
intron_variant | MODIFIER | c.274-6829delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16999368 | |||||
| chrX:16999368
|
ATT | A | 1 | a0001c0001t0009g0136 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.274-6830_274-6829d others(4): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16999368 | |||||
| chrX:16999368
|
ATTTTTTT | A | 1 | a0008c0002t0001g0038 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.274-6835_274-6829d others(9): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16999368 | |||||
| chrX:16999654
|
G | A | 1 | a0001c0001t0025g0024 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.274-6567G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16999654 | ||||||
| chrX:16999773
|
A | G | 155 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(152): Show | 155 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(152): Show |
intron_variant | MODIFIER | c.274-6448A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16999773 | ||||||
| chrX:16999817
|
C | T | 2 | a0001c0001t0015g0019a0001c0001t0016g0020 | 2 | HG01106.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.274-6404C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16999817 | ||||||
| chrX:16999908
|
G | A | 56 | a0001c0001t0001g0023a0001c0001t0001g0031a0001c0001t0001g0056others(53): Show | 56 | HG00438.hp2 HG00621.hp1 HG01069.hp1 others(53): Show |
intron_variant | MODIFIER | c.274-6313G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16999908 | ||||||
| chrX:16999926
|
A | C | 1 | a0001c0001t0001g0078 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.274-6295A>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16999926 | ||||||
| chrX:17000046
|
C | CA | 44 | a0001c0001t0001g0023a0001c0001t0001g0052a0001c0001t0001g0054others(41): Show | 44 | HG00438.hp1 HG00621.hp1 HG00673.hp1 others(41): Show |
intron_variant | MODIFIER | c.274-6153dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 17000046 | |||||
| chrX:17000046
|
C | CAA | 5 | a0001c0001t0001g0056a0001c0001t0001g0082a0001c0001t0001g0083others(2): Show | 5 | HG02055.hp1 HG02572.hp1 HG02965.hp1 others(2): Show |
intron_variant | MODIFIER | c.274-6154_274-6153d others(4): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 17000046 | |||||
| chrX:17000046
|
C | CAAA | 1 | a0001c0001t0001g0031 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.274-6155_274-6153d others(5): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 17000046 | |||||
| chrX:17000046
|
CA | C | 1 | a0001c0001t0001g0166 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.274-6153delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 17000046 | |||||
| chrX:17000069
|
G | A | 1 | a0001c0001t0001g0052 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.274-6152G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 17000069 | ||||||
| chrX:17000528
|
A | G | 2 | a0001c0001t0015g0019a0001c0001t0016g0020 | 2 | HG01106.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.274-5693A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 17000528 | ||||||
| chrX:17000566
|
G | A | 1 | a0001c0001t0001g0069 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.274-5655G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 17000566 | ||||||
| chrX:17000920
|
C | T | 1 | a0001c0001t0001g0069 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.274-5301C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 17000920 | ||||||
| chrX:17001667
|
A | G | 1 | a0001c0001t0003g0011 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.274-4554A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 17001667 | ||||||
| chrX:17001714
|
C | T | 1 | a0001c0001t0002g0127 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.274-4507C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 17001714 | ||||||
| chrX:17002087
|
A | G | 3 | a0001c0001t0005g0048a0001c0001t0005g0051a0006c0006t0005g0032 | 3 | HG00280.hp1 HG01358.hp1 HG03017.hp1 |
intron_variant | MODIFIER | c.274-4134A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 17002087 | ||||||
| chrX:17002103
|
C | T | 1 | a0001c0001t0013g0030 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.274-4118C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 17002103 | ||||||
| chrX:17003257
|
T | C | 14 | a0001c0001t0001g0037a0001c0001t0002g0003a0001c0001t0002g0022others(11): Show | 14 | HG00280.hp1 HG00735.hp1 HG01261.hp1 others(11): Show |
intron_variant | MODIFIER | c.274-2964T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 17003257 | ||||||
| chrX:17003581
|
C | T | 2 | a0001c0001t0001g0165a0001c0001t0001g0166 | 2 | HG00438.hp1 NA18974.hp1 |
intron_variant | MODIFIER | c.274-2640C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 17003581 | ||||||
| chrX:17004413
|
CT | C | 143 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(140): Show | 143 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(140): Show |
intron_variant | MODIFIER | c.274-1791delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 17004413 | |||||
| chrX:17004413
|
CTT | C | 11 | a0001c0001t0001g0091a0001c0001t0005g0138a0001c0001t0006g0132others(8): Show | 11 | HG02258.hp1 HG02293.hp1 HG02717.hp1 others(8): Show |
intron_variant | MODIFIER | c.274-1792_274-1791d others(4): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 17004413 | |||||
| chrX:17004478
|
C | G | 2 | a0001c0001t0001g0152a0001c0001t0001g0153 | 2 | NA18965.hp1 NA19000.hp1 |
intron_variant | MODIFIER | c.274-1743C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 17004478 | ||||||
| chrX:17004574
|
C | T | 1 | a0001c0001t0001g0156 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.274-1647C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 17004574 | ||||||
| chrX:17004709
|
G | A | 8 | a0001c0001t0006g0132a0001c0001t0006g0133a0001c0001t0006g0134others(5): Show | 8 | HG02258.hp1 HG02293.hp1 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.274-1512G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 17004709 | ||||||
| chrX:17004862
|
CT | C | 145 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(142): Show | 145 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(142): Show |
intron_variant | MODIFIER | c.274-1348delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 17004862 | |||||
| chrX:17004995
|
G | A | 1 | a0001c0001t0027g0115 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.274-1226G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 17004995 | ||||||
| chrX:17005402
|
A | T | 6 | a0001c0001t0001g0031a0001c0001t0001g0081a0001c0001t0001g0082others(3): Show | 6 | HG02055.hp1 HG02965.hp1 HG03471.hp1 others(3): Show |
intron_variant | MODIFIER | c.274-819A>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 17005402 | ||||||
| chrX:17005411
|
C | A | 2 | a0001c0001t0015g0019a0001c0001t0016g0020 | 2 | HG01106.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.274-810C>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 17005411 | ||||||
| chrX:17005845
|
T | C | 89 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(86): Show | 89 | HG00280.hp1 HG00438.hp1 HG00609.hp1 others(86): Show |
intron_variant | MODIFIER | c.274-376T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 17005845 | ||||||
| chrX:17006666
|
G | T | 13 | a0001c0001t0002g0003a0001c0001t0002g0022a0001c0001t0002g0039others(10): Show | 13 | HG00280.hp1 HG00735.hp1 HG01261.hp1 others(10): Show |
intron_variant | MODIFIER | c.397+322G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | chrX | 17006666 | ||||||
| chrX:17007288
|
T | C | 155 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(152): Show | 155 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(152): Show |
intron_variant | MODIFIER | c.397+944T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | chrX | 17007288 | ||||||
| chrX:17007461
|
G | A | 1 | a0001c0001t0002g0116 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.397+1117G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | chrX | 17007461 | ||||||
| chrX:17007920
|
T | C | 1 | a0001c0001t0023g0026 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.397+1576T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | chrX | 17007920 | ||||||
| chrX:17009160
|
TTTTG | T | 89 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(86): Show | 89 | HG00280.hp1 HG00438.hp1 HG00609.hp1 others(86): Show |
intron_variant | MODIFIER | c.397+2828_397+2831d others(6): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 17009160 | |||||
| chrX:17009175
|
T | G | 1 | a0001c0001t0001g0064 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.397+2831T>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | chrX | 17009175 | ||||||
| chrX:17009189
|
C | T | 1 | a0001c0001t0010g0140 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.397+2845C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | chrX | 17009189 | ||||||
| chrX:17009279
|
G | A | 1 | a0001c0001t0002g0110 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.397+2935G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | chrX | 17009279 | ||||||
| chrX:17009946
|
CA | C | 2 | a0001c0001t0002g0137a0001c0001t0005g0138 | 2 | HG03491.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.397+3603delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | chrX | 17009946 | ||||||
| chrX:17010955
|
G | T | 1 | a0001c0001t0001g0081 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.397+4611G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | chrX | 17010955 | ||||||
| chrX:17011057
|
C | CTG | 6 | a0001c0001t0003g0007a0001c0001t0009g0136a0001c0001t0009g0141others(3): Show | 6 | HG00140.hp1 HG01106.hp1 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.397+4755_397+4756d others(4): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 17011057 | |||||
| chrX:17011057
|
C | CTGTG | 4 | a0001c0001t0003g0005a0001c0001t0003g0011a0001c0001t0006g0132others(1): Show | 4 | HG01167.hp1 HG01517.hp2 HG02293.hp1 others(1): Show |
intron_variant | MODIFIER | c.397+4753_397+4756d others(6): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 17011057 | |||||
| chrX:17011057
|
CTGTGTGT others(1): Show |
C | 1 | a0001c0001t0028g0135 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.397+4749_397+4756d others(10): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 17011057 | |||||
| chrX:17011057
|
CTGTGTGT others(9): Show |
C | 1 | a0001c0001t0010g0140 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.397+4741_397+4756d others(18): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 17011057 | |||||
| chrX:17011057
|
CTGTGTGT others(15): Show |
C | 145 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(142): Show | 145 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(142): Show |
intron_variant | MODIFIER | c.397+4735_397+4756d others(24): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 17011057 | |||||
| chrX:17011215
|
C | T | 4 | a0001c0001t0002g0106a0001c0001t0002g0121a0001c0001t0002g0131others(1): Show | 4 | HG01074.hp1 HG02735.hp1 NA20805.hp1 others(1): Show |
intron_variant | MODIFIER | c.397+4871C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | chrX | 17011215 | ||||||
| chrX:17011376
|
C | A | 13 | a0001c0001t0002g0003a0001c0001t0002g0022a0001c0001t0002g0039others(10): Show | 13 | HG00280.hp1 HG00735.hp1 HG01261.hp1 others(10): Show |
intron_variant | MODIFIER | c.397+5032C>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | chrX | 17011376 | ||||||
| chrX:17011713
|
C | T | 4 | a0001c0001t0002g0003a0001c0001t0002g0022a0001c0001t0002g0049others(1): Show | 4 | HG02040.hp1 HG02293.hp2 NA18946.hp1 others(1): Show |
intron_variant | MODIFIER | c.397+5369C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | chrX | 17011713 | ||||||
| chrX:17011961
|
C | CA | 9 | a0001c0001t0002g0016a0001c0001t0002g0111a0001c0001t0002g0113others(6): Show | 9 | HG02109.hp1 HG03239.hp2 HG03490.hp1 others(6): Show |
intron_variant | MODIFIER | c.397+5634dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 17011961 | |||||
| chrX:17011961
|
CA | C | 94 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(91): Show | 94 | HG00280.hp1 HG00438.hp1 HG00609.hp1 others(91): Show |
intron_variant | MODIFIER | c.397+5634delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 17011961 | |||||
| chrX:17011961
|
CAA | C | 2 | a0001c0001t0001g0077a0001c0001t0022g0098 | 2 | HG01255.hp1 NA19056.hp1 |
intron_variant | MODIFIER | c.397+5633_397+5634d others(4): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 17011961 | |||||
| chrX:17012239
|
C | T | 3 | a0001c0001t0002g0015a0001c0001t0002g0016a0001c0001t0002g0017 | 3 | NA18955.hp1 NA18962.hp1 NA19076.hp1 |
intron_variant | MODIFIER | c.397+5895C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | chrX | 17012239 | ||||||
| chrX:17012358
|
G | A | 1 | a0001c0001t0001g0031 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.397+6014G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | chrX | 17012358 | ||||||
| chrX:17012380
|
A | AAAC | 75 | a0001c0001t0001g0018a0001c0001t0001g0023a0001c0001t0001g0031others(72): Show | 75 | HG00438.hp1 HG00438.hp2 HG00621.hp1 others(72): Show |
intron_variant | MODIFIER | c.397+6069_397+6071d others(5): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 17012380 | |||||
| chrX:17012380
|
A | AAACAAC | 22 | a0001c0001t0001g0037a0001c0001t0001g0093a0001c0001t0001g0096others(19): Show | 22 | HG00280.hp1 HG00735.hp1 HG01071.hp2 others(19): Show |
intron_variant | MODIFIER | c.397+6066_397+6071d others(8): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 17012380 | |||||
| chrX:17012380
|
A | AAACAACA others(2): Show |
4 | a0001c0001t0009g0136a0001c0001t0016g0020a0001c0001t0025g0024others(1): Show | 4 | HG02723.hp2 HG02886.hp2 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.397+6063_397+6071d others(11): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 17012380 | |||||
| chrX:17012380
|
A | AAACAACA others(5): Show |
2 | a0001c0001t0009g0141a0001c0001t0015g0019 | 2 | HG01106.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.397+6060_397+6071d others(14): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 17012380 | |||||
| chrX:17012380
|
A | AAACAACA others(8): Show |
2 | a0001c0001t0010g0139a0001c0001t0010g0140 | 2 | HG02258.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.397+6057_397+6071d others(17): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 17012380 | |||||
| chrX:17012543
|
A | AT | 1 | a0001c0001t0001g0040 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.397+6212dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 17012543 | |||||
| chrX:17012679
|
T | C | 2 | a0001c0001t0015g0019a0001c0001t0016g0020 | 2 | HG01106.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.397+6335T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | chrX | 17012679 | ||||||
| chrX:17012766
|
G | GT | 1 | a0001c0001t0001g0040 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.397+6430dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 17012766 | |||||
| chrX:17013624
|
CTG | C | 2 | a0001c0001t0015g0019a0001c0001t0016g0020 | 2 | HG01106.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.397+7320_397+7321d others(4): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 17013624 | |||||
| chrX:17013624
|
CTGTG | C | 8 | a0001c0001t0006g0133a0001c0001t0006g0134a0001c0001t0009g0136others(5): Show | 8 | HG02258.hp1 HG02293.hp1 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.397+7318_397+7321d others(6): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 17013624 | |||||
| chrX:17013624
|
CTGTGTG | C | 1 | a0001c0001t0001g0145 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.397+7316_397+7321d others(8): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 17013624 | |||||
| chrX:17013624
|
CTGTGTGT others(1): Show |
C | 27 | a0001c0001t0001g0037a0001c0001t0001g0068a0001c0001t0001g0077others(24): Show | 27 | HG00280.hp1 HG00735.hp1 HG01261.hp1 others(24): Show |
intron_variant | MODIFIER | c.397+7314_397+7321d others(10): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 17013624 | |||||
| chrX:17013624
|
CTGTGTGT others(3): Show |
C | 117 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(114): Show | 117 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(114): Show |
intron_variant | MODIFIER | c.397+7312_397+7321d others(12): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 17013624 | |||||
| chrX:17013751
|
C | T | 91 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(88): Show | 91 | HG00280.hp1 HG00438.hp1 HG00609.hp1 others(88): Show |
intron_variant | MODIFIER | c.397+7407C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | chrX | 17013751 | ||||||
| chrX:17013922
|
T | C | 2 | a0001c0001t0003g0012a0001c0001t0017g0013 | 2 | NA19057.hp1 NA19083.hp1 |
intron_variant | MODIFIER | c.397+7578T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | chrX | 17013922 | ||||||
| chrX:17013935
|
G | A | 3 | a0001c0001t0002g0121a0001c0001t0002g0131a0001c0001t0012g0120 | 3 | HG02735.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.397+7591G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | chrX | 17013935 | ||||||
| chrX:17014993
|
T | C | 1 | a0001c0001t0018g0057 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.398-7130T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | chrX | 17014993 | ||||||
| chrX:17015128
|
C | T | 13 | a0001c0001t0002g0003a0001c0001t0002g0022a0001c0001t0002g0039others(10): Show | 13 | HG00280.hp1 HG00735.hp1 HG01261.hp1 others(10): Show |
intron_variant | MODIFIER | c.398-6995C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | chrX | 17015128 | ||||||
| chrX:17015399
|
CT | C | 1 | a0001c0001t0001g0146 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.398-6718delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 17015399 | |||||
| chrX:17015581
|
T | TC | 2 | a0001c0001t0001g0150a0001c0001t0002g0122 | 2 | NA18977.hp1 NA19058.hp1 |
intron_variant | MODIFIER | c.398-6538dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 17015581 | |||||
| chrX:17015596
|
G | A | 1 | a0001c0001t0001g0031 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.398-6527G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | chrX | 17015596 | ||||||
| chrX:17015605
|
C | T | 2 | a0001c0001t0015g0019a0001c0001t0016g0020 | 2 | HG01106.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.398-6518C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | chrX | 17015605 | ||||||
| chrX:17015632
|
A | G | 145 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(142): Show | 145 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(142): Show |
intron_variant | MODIFIER | c.398-6491A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | chrX | 17015632 | ||||||
| chrX:17016628
|
C | T | 42 | a0001c0001t0001g0001a0001c0001t0001g0025a0001c0001t0001g0028others(39): Show | 42 | HG00438.hp1 HG00609.hp1 HG00642.hp1 others(39): Show |
intron_variant | MODIFIER | c.398-5495C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | chrX | 17016628 | ||||||
| chrX:17016700
|
T | A | 1 | a0001c0001t0001g0091 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.398-5423T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | chrX | 17016700 | ||||||
| chrX:17016760
|
CT | C | 17 | a0001c0001t0001g0001a0001c0001t0001g0040a0001c0001t0001g0078others(14): Show | 17 | HG01106.hp1 HG01109.hp1 HG01258.hp1 others(14): Show |
intron_variant | MODIFIER | c.398-5342delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 17016760 | |||||
| chrX:17016760
|
CTT | C | 123 | a0001c0001t0001g0002a0001c0001t0001g0018a0001c0001t0001g0023others(120): Show | 123 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(120): Show |
intron_variant | MODIFIER | c.398-5343_398-5342d others(4): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 17016760 | |||||
| chrX:17016760
|
CTTT | C | 15 | a0001c0001t0001g0037a0001c0001t0002g0003a0001c0001t0002g0022others(12): Show | 15 | HG00280.hp1 HG00735.hp1 HG01261.hp1 others(12): Show |
intron_variant | MODIFIER | c.398-5344_398-5342d others(5): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 17016760 | |||||
| chrX:17016760
|
CTTTTTTT | C | 2 | a0001c0001t0003g0012a0001c0001t0017g0013 | 2 | NA19057.hp1 NA19083.hp1 |
intron_variant | MODIFIER | c.398-5348_398-5342d others(9): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 17016760 | |||||
| chrX:17016766
|
T | C | 1 | a0001c0001t0001g0023 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.398-5357T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | chrX | 17016766 | ||||||
| chrX:17016767
|
T | C | 8 | a0001c0001t0006g0132a0001c0001t0006g0133a0001c0001t0006g0134others(5): Show | 8 | HG02258.hp1 HG02293.hp1 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.398-5356T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | chrX | 17016767 | ||||||
| chrX:17017037
|
T | G | 1 | a0001c0001t0001g0099 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.398-5086T>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | chrX | 17017037 | ||||||
| chrX:17017458
|
C | T | 2 | a0001c0001t0015g0019a0001c0001t0016g0020 | 2 | HG01106.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.398-4665C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | chrX | 17017458 | ||||||
| chrX:17017556
|
G | GAT | 10 | a0001c0001t0003g0004a0001c0001t0006g0132a0001c0001t0006g0133others(7): Show | 10 | HG02109.hp2 HG02258.hp1 HG02293.hp1 others(7): Show |
intron_variant | MODIFIER | c.398-4550_398-4549d others(4): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 17017556 | |||||
| chrX:17018212
|
C | CT | 10 | a0001c0001t0006g0132a0001c0001t0006g0133a0001c0001t0006g0134others(7): Show | 10 | HG01106.hp1 HG02258.hp1 HG02293.hp1 others(7): Show |
intron_variant | MODIFIER | c.398-3888dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 17018212 | |||||
| chrX:17018212
|
CTTTTTTT others(3): Show |
C | 145 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(142): Show | 145 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(142): Show |
intron_variant | MODIFIER | c.398-3897_398-3888d others(12): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 17018212 | |||||
| chrX:17018509
|
C | T | 145 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(142): Show | 145 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(142): Show |
intron_variant | MODIFIER | c.398-3614C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | chrX | 17018509 | ||||||
| chrX:17018602
|
CT | C | 152 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(149): Show | 152 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(149): Show |
intron_variant | MODIFIER | c.398-3506delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 17018602 | |||||
| chrX:17018602
|
CTT | C | 2 | a0001c0001t0001g0102a0005c0005t0024g0148 | 2 | HG01943.hp1 NA19072.hp1 |
intron_variant | MODIFIER | c.398-3507_398-3506d others(4): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 17018602 | |||||
| chrX:17018814
|
A | AT | 6 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0082others(3): Show | 6 | HG02055.hp1 HG02572.hp1 HG02965.hp1 others(3): Show |
intron_variant | MODIFIER | c.398-3300dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 17018814 | |||||
| chrX:17019018
|
G | A | 3 | a0001c0001t0001g0142a0001c0001t0001g0143a0001c0001t0001g0145 | 3 | HG02015.hp1 HG03688.hp1 HG04115.hp1 |
intron_variant | MODIFIER | c.398-3105G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | chrX | 17019018 | ||||||
| chrX:17019067
|
A | G | 1 | a0001c0001t0001g0157 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.398-3056A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | chrX | 17019067 | ||||||
| chrX:17019231
|
G | A | 49 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0025others(46): Show | 49 | HG00438.hp1 HG00609.hp1 HG00642.hp1 others(46): Show |
intron_variant | MODIFIER | c.398-2892G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | chrX | 17019231 | ||||||
| chrX:17019238
|
A | C | 2 | a0001c0001t0001g0042a0001c0001t0001g0043 | 2 | HG01515.hp1 HG01517.hp1 |
intron_variant | MODIFIER | c.398-2885A>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | chrX | 17019238 | ||||||
| chrX:17020437
|
T | C | 1 | a0001c0001t0003g0010 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.398-1686T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | chrX | 17020437 | ||||||
| chrX:17020484
|
T | C | 8 | a0001c0001t0006g0132a0001c0001t0006g0133a0001c0001t0006g0134others(5): Show | 8 | HG02258.hp1 HG02293.hp1 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.398-1639T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | chrX | 17020484 | ||||||
| chrX:17020631
|
C | CT | 49 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0025others(46): Show | 49 | HG00438.hp1 HG00609.hp1 HG00642.hp1 others(46): Show |
intron_variant | MODIFIER | c.398-1480dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 17020631 | |||||
| chrX:17020631
|
CT | C | 1 | a0001c0001t0002g0015 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.398-1480delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 17020631 | |||||
| chrX:17020682
|
G | A | 2 | a0001c0001t0015g0019a0001c0001t0016g0020 | 2 | HG01106.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.398-1441G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | chrX | 17020682 | ||||||
| chrX:17020819
|
C | T | 56 | a0001c0001t0001g0023a0001c0001t0001g0031a0001c0001t0001g0056others(53): Show | 56 | HG00438.hp2 HG00621.hp1 HG01069.hp1 others(53): Show |
intron_variant | MODIFIER | c.398-1304C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | chrX | 17020819 | ||||||
| chrX:17020833
|
G | C | 2 | a0001c0001t0001g0082a0001c0001t0001g0083 | 2 | HG02055.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.398-1290G>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | chrX | 17020833 | ||||||
| chrX:17020870
|
G | A | 165 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(162): Show | 165 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(162): Show |
intron_variant | MODIFIER | c.398-1253G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | chrX | 17020870 | ||||||
| chrX:17020889
|
C | T | 1 | a0001c0001t0007g0118 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.398-1234C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | chrX | 17020889 | ||||||
| chrX:17021112
|
T | G | 1 | a0001c0001t0001g0034 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.398-1011T>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | chrX | 17021112 | ||||||
| chrX:17021331
|
T | C | 1 | a0001c0001t0027g0115 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.398-792T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | chrX | 17021331 | ||||||
| chrX:17021619
|
G | A | 1 | a0001c0001t0002g0125 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.398-504G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | chrX | 17021619 | ||||||
| chrX:17021908
|
T | C | 5 | a0001c0001t0001g0056a0001c0001t0001g0068a0001c0001t0008g0021others(2): Show | 5 | HG02922.hp1 HG03098.hp1 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.398-215T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | chrX | 17021908 | ||||||
| chrX:17022104
|
C | G | 1 | a0001c0010t0001g0027 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.398-19C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | chrX | 17022104 | ||||||
| chrX:17022838
|
G | T | 1 | a0001c0001t0004g0035 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.546+567G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 3/17 | chrX | 17022838 | ||||||
| chrX:17022918
|
G | C | 1 | a0001c0001t0004g0035 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.546+647G>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 3/17 | chrX | 17022918 | ||||||
| chrX:17022985
|
C | A | 1 | a0001c0001t0016g0020 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.546+714C>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 3/17 | chrX | 17022985 | ||||||
| chrX:17023017
|
G | A | 155 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(152): Show | 155 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(152): Show |
intron_variant | MODIFIER | c.546+746G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 3/17 | chrX | 17023017 | ||||||
| chrX:17023096
|
C | T | 1 | a0001c0001t0001g0053 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.546+825C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 3/17 | chrX | 17023096 | ||||||
| chrX:17023427
|
CA | C | 151 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(148): Show | 151 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(148): Show |
intron_variant | MODIFIER | c.546+1171delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 17023427 | |||||
| chrX:17023427
|
CAA | C | 2 | a0001c0001t0002g0131a0005c0005t0024g0148 | 2 | NA19072.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.546+1170_546+1171d others(4): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 17023427 | |||||
| chrX:17023849
|
C | T | 1 | a0001c0001t0001g0094 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.547-1210C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 3/17 | chrX | 17023849 | ||||||
| chrX:17024076
|
C | T | 3 | a0001c0001t0001g0031a0001c0001t0001g0081a0001c0001t0001g0091 | 3 | HG03471.hp1 HG03486.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.547-983C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 3/17 | chrX | 17024076 | ||||||
| chrX:17024122
|
C | CA | 7 | a0001c0001t0001g0142a0001c0001t0001g0143a0001c0001t0001g0145others(4): Show | 7 | HG01358.hp1 HG02015.hp1 HG02717.hp1 others(4): Show |
intron_variant | MODIFIER | c.547-919dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 17024122 | |||||
| chrX:17024122
|
CA | C | 6 | a0001c0001t0001g0031a0001c0001t0001g0081a0001c0001t0001g0091others(3): Show | 6 | HG02257.hp2 HG03471.hp1 HG03486.hp2 others(3): Show |
intron_variant | MODIFIER | c.547-919delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 17024122 | |||||
| chrX:17024130
|
A | T | 1 | a0001c0001t0027g0115 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.547-929A>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 3/17 | chrX | 17024130 | ||||||
| chrX:17024285
|
TCAAA | T | 1 | a0001c0001t0001g0001 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.547-757_547-754del others(4): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 17024285 | |||||
| chrX:17024363
|
G | GT | 56 | a0001c0001t0001g0023a0001c0001t0001g0040a0001c0001t0001g0054others(53): Show | 56 | HG00438.hp2 HG00621.hp1 HG00673.hp1 others(53): Show |
intron_variant | MODIFIER | c.547-672dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 17024363 | |||||
| chrX:17024363
|
G | GTT | 10 | a0001c0001t0001g0031a0001c0001t0001g0037a0001c0001t0002g0106others(7): Show | 10 | HG01074.hp1 HG02602.hp1 HG02735.hp1 others(7): Show |
intron_variant | MODIFIER | c.547-673_547-672dup others(2): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 17024363 | |||||
| chrX:17024363
|
G | GTTT | 2 | a0001c0001t0002g0131a0001c0001t0020g0045 | 2 | HG02572.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.547-674_547-672dup others(3): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 17024363 | |||||
| chrX:17024363
|
GT | G | 2 | a0001c0001t0001g0156a0001c0001t0001g0161 | 2 | HG01928.hp1 HG01952.hp1 |
intron_variant | MODIFIER | c.547-672delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 17024363 | |||||
| chrX:17024363
|
GTTTTTTT | G | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.547-678_547-672del others(7): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 17024363 | |||||
| chrX:17024455
|
G | A | 1 | a0001c0001t0007g0109 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.547-604G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 3/17 | chrX | 17024455 | ||||||
| chrX:17024886
|
T | C | 153 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(150): Show | 153 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(150): Show |
intron_variant | MODIFIER | c.547-173T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 3/17 | chrX | 17024886 | ||||||
| chrX:17025245
|
C | T | 1 | a0001c0001t0001g0053 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.673+60C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 4/17 | chrX | 17025245 | ||||||
| chrX:17025339
|
G | GT | 2 | a0001c0001t0001g0040a0001c0001t0001g0065 | 2 | HG02074.hp1 NA19006.hp1 |
intron_variant | MODIFIER | c.673+163dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chrX | 17025339 | |||||
| chrX:17025577
|
T | A | 2 | a0001c0001t0001g0056a0001c0001t0001g0068 | 2 | HG03516.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.673+392T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 4/17 | chrX | 17025577 | ||||||
| chrX:17025588
|
G | A | 8 | a0001c0001t0006g0132a0001c0001t0006g0133a0001c0001t0006g0134others(5): Show | 8 | HG02258.hp1 HG02293.hp1 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.673+403G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 4/17 | chrX | 17025588 | ||||||
| chrX:17025603
|
C | T | 2 | a0001c0001t0015g0019a0001c0001t0016g0020 | 2 | HG01106.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.673+418C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 4/17 | chrX | 17025603 | ||||||
| chrX:17025935
|
A | AC | 1 | a0001c0001t0001g0061 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.673+757dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chrX | 17025935 | |||||
| chrX:17026243
|
A | G | 2 | a0001c0001t0002g0111a0001c0001t0002g0113 | 2 | HG03490.hp1 HG03704.hp2 |
intron_variant | MODIFIER | c.673+1058A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 4/17 | chrX | 17026243 | ||||||
| chrX:17026297
|
A | G | 1 | a0001c0001t0025g0024 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.673+1112A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 4/17 | chrX | 17026297 | ||||||
| chrX:17026454
|
G | GT | 8 | a0001c0001t0001g0065a0001c0001t0001g0068a0001c0001t0001g0083others(5): Show | 8 | HG01952.hp1 HG02055.hp1 HG02074.hp1 others(5): Show |
intron_variant | MODIFIER | c.673+1285dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chrX | 17026454 | |||||
| chrX:17026454
|
G | GTT | 1 | a0001c0001t0001g0165 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.673+1284_673+1285d others(4): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chrX | 17026454 | |||||
| chrX:17026454
|
GT | G | 3 | a0001c0001t0002g0049a0001c0001t0011g0124a0001c0001t0019g0101 | 3 | HG03927.hp1 NA18946.hp1 NA18946.hp2 |
intron_variant | MODIFIER | c.673+1285delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chrX | 17026454 | |||||
| chrX:17026947
|
C | T | 1 | a0001c0001t0002g0164 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.673+1762C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 4/17 | chrX | 17026947 | ||||||
| chrX:17027288
|
A | G | 3 | a0001c0001t0001g0001a0001c0001t0001g0066a0001c0003t0001g0055 | 3 | HG00735.hp2 HG01192.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.673+2103A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 4/17 | chrX | 17027288 | ||||||
| chrX:17027659
|
G | GT | 11 | a0001c0001t0001g0081a0001c0001t0001g0082a0001c0001t0001g0083others(8): Show | 11 | HG02055.hp1 HG02109.hp1 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.674-1844dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chrX | 17027659 | |||||
| chrX:17027659
|
G | GTT | 2 | a0001c0001t0002g0121a0001c0001t0012g0120 | 2 | HG02735.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.674-1845_674-1844d others(4): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chrX | 17027659 | |||||
| chrX:17027659
|
G | GTTT | 1 | a0001c0001t0002g0131 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.674-1846_674-1844d others(5): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chrX | 17027659 | |||||
| chrX:17027659
|
GT | G | 82 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(79): Show | 82 | HG00280.hp1 HG00609.hp1 HG00642.hp1 others(79): Show |
intron_variant | MODIFIER | c.674-1844delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chrX | 17027659 | |||||
| chrX:17028248
|
T | C | 155 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(152): Show | 155 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(152): Show |
intron_variant | MODIFIER | c.674-1278T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 4/17 | chrX | 17028248 | ||||||
| chrX:17028713
|
A | T | 1 | a0001c0010t0001g0027 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.674-813A>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 4/17 | chrX | 17028713 | ||||||
| chrX:17030312
|
A | AGT | 1 | a0001c0001t0001g0096 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.771+690_771+691ins others(2): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17030312 | |||||
| chrX:17030312
|
A | AT | 1 | a0001c0001t0002g0104 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.771+689_771+690ins others(1): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17030312 | ||||||
| chrX:17030312
|
AG | A | 2 | a0001c0001t0002g0049a0001c0001t0019g0101 | 2 | NA18946.hp1 NA18946.hp2 |
intron_variant | MODIFIER | c.771+692delG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17030312 | |||||
| chrX:17030314
|
G | GGT | 18 | a0001c0001t0001g0062a0001c0001t0001g0070a0001c0001t0001g0071others(15): Show | 18 | HG00280.hp1 HG00735.hp1 HG01106.hp1 others(15): Show |
intron_variant | MODIFIER | c.771+719_771+720dup others(2): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17030314 | |||||
| chrX:17030314
|
G | GGTGT | 63 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0028others(60): Show | 63 | HG00438.hp1 HG00609.hp1 HG00642.hp1 others(60): Show |
intron_variant | MODIFIER | c.771+717_771+720dup others(4): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17030314 | |||||
| chrX:17030314
|
G | GGTGTGT | 1 | a0001c0001t0001g0018 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.771+715_771+720dup others(6): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17030314 | |||||
| chrX:17030314
|
G | GGTGTGTG others(1): Show |
1 | a0001c0001t0001g0103 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.771+713_771+720dup others(8): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17030314 | |||||
| chrX:17030314
|
G | GTGT | 2 | a0001c0001t0001g0144a0001c0001t0002g0112 | 2 | NA18998.hp1 NA18998.hp2 |
intron_variant | MODIFIER | c.771+691_771+692ins others(3): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17030314 | ||||||
| chrX:17030314
|
G | T | 2 | a0001c0001t0001g0096a0001c0001t0002g0104 | 2 | HG00438.hp2 HG01071.hp2 |
intron_variant | MODIFIER | c.771+691G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17030314 | ||||||
| chrX:17030314
|
GGT | G | 49 | a0001c0001t0001g0023a0001c0001t0001g0056a0001c0001t0001g0068others(46): Show | 49 | HG00621.hp1 HG01069.hp1 HG01071.hp1 others(46): Show |
intron_variant | MODIFIER | c.771+719_771+720del others(2): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17030314 | |||||
| chrX:17030574
|
G | T | 2 | a0001c0001t0001g0156a0001c0001t0001g0161 | 2 | HG01928.hp1 HG01952.hp1 |
intron_variant | MODIFIER | c.771+951G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17030574 | ||||||
| chrX:17030615
|
G | A | 1 | a0001c0001t0018g0057 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.771+992G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17030615 | ||||||
| chrX:17031110
|
G | T | 1 | a0001c0001t0003g0004 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.771+1487G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17031110 | ||||||
| chrX:17031266
|
G | A | 1 | a0001c0001t0002g0127 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.771+1643G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17031266 | ||||||
| chrX:17031550
|
G | A | 1 | a0001c0001t0008g0021 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.771+1927G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17031550 | ||||||
| chrX:17031723
|
C | T | 1 | a0001c0001t0001g0034 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.771+2100C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17031723 | ||||||
| chrX:17031899
|
C | G | 1 | a0001c0001t0001g0028 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.771+2276C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17031899 | ||||||
| chrX:17032934
|
G | A | 1 | a0001c0001t0002g0117 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.771+3311G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17032934 | ||||||
| chrX:17032961
|
G | T | 1 | a0006c0006t0005g0032 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.771+3338G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17032961 | ||||||
| chrX:17033169
|
G | A | 1 | a0001c0001t0001g0031 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.771+3546G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17033169 | ||||||
| chrX:17033361
|
C | G | 1 | a0001c0001t0001g0150 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.771+3738C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17033361 | ||||||
| chrX:17033935
|
G | T | 2 | a0001c0001t0015g0019a0001c0001t0016g0020 | 2 | HG01106.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.771+4312G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17033935 | ||||||
| chrX:17034124
|
G | A | 2 | a0001c0001t0015g0019a0001c0001t0016g0020 | 2 | HG01106.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.771+4501G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17034124 | ||||||
| chrX:17034939
|
T | C | 1 | a0001c0001t0003g0005 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.771+5316T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17034939 | ||||||
| chrX:17035162
|
A | G | 3 | a0001c0001t0001g0082a0001c0001t0001g0083a0001c0001t0001g0087 | 3 | HG02055.hp1 HG02965.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.771+5539A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17035162 | ||||||
| chrX:17035328
|
C | T | 2 | a0001c0001t0002g0111a0001c0001t0002g0113 | 2 | HG03490.hp1 HG03704.hp2 |
intron_variant | MODIFIER | c.771+5705C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17035328 | ||||||
| chrX:17036696
|
A | G | 1 | a0001c0001t0001g0068 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.771+7073A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17036696 | ||||||
| chrX:17036849
|
A | AGT | 151 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(148): Show | 151 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(148): Show |
intron_variant | MODIFIER | c.771+7245_771+7246d others(4): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17036849 | |||||
| chrX:17036849
|
A | AGTGT | 2 | a0001c0001t0025g0024a0007c0007t0001g0060 | 2 | HG02135.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.771+7243_771+7246d others(6): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17036849 | |||||
| chrX:17037215
|
A | G | 2 | a0001c0001t0015g0019a0001c0001t0016g0020 | 2 | HG01106.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.771+7592A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17037215 | ||||||
| chrX:17037274
|
GTTTCTTT | G | 2 | a0001c0001t0003g0008a0001c0001t0003g0009 | 2 | HG02257.hp1 HG03669.hp1 |
intron_variant | MODIFIER | c.771+7663_771+7669d others(9): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17037274 | |||||
| chrX:17037551
|
A | T | 1 | a0001c0001t0002g0126 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.771+7928A>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17037551 | ||||||
| chrX:17037895
|
G | A | 155 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(152): Show | 155 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(152): Show |
intron_variant | MODIFIER | c.771+8272G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17037895 | ||||||
| chrX:17038088
|
A | G | 1 | a0001c0001t0001g0162 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.771+8465A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17038088 | ||||||
| chrX:17038540
|
A | G | 1 | a0001c0001t0002g0003 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.772-8807A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17038540 | ||||||
| chrX:17038672
|
C | T | 153 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(150): Show | 153 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(150): Show |
intron_variant | MODIFIER | c.772-8675C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17038672 | ||||||
| chrX:17039127
|
C | T | 1 | a0001c0001t0002g0126 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.772-8220C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17039127 | ||||||
| chrX:17039769
|
C | G | 1 | a0001c0001t0001g0072 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.772-7578C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17039769 | ||||||
| chrX:17040099
|
C | T | 1 | a0001c0001t0006g0134 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.772-7248C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17040099 | ||||||
| chrX:17041095
|
AC | A | 1 | a0001c0001t0002g0122 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.772-6250delC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17041095 | |||||
| chrX:17041614
|
C | A | 1 | a0001c0001t0008g0021 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.772-5733C>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17041614 | ||||||
| chrX:17041640
|
A | G | 2 | a0001c0001t0015g0019a0001c0001t0016g0020 | 2 | HG01106.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.772-5707A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17041640 | ||||||
| chrX:17041741
|
AGC | A | 1 | a0001c0001t0002g0122 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.772-5605_772-5604d others(4): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17041741 | ||||||
| chrX:17041794
|
A | AT | 1 | a0001c0001t0002g0122 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.772-5552dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17041794 | |||||
| chrX:17042215
|
C | T | 154 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(151): Show | 154 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(151): Show |
intron_variant | MODIFIER | c.772-5132C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17042215 | ||||||
| chrX:17042361
|
T | TGCCTTCA others(7): Show |
1 | a0001c0001t0005g0050 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.772-4985_772-4972d others(16): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17042361 | |||||
| chrX:17042620
|
CT | C | 1 | a0005c0005t0024g0148 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.772-4725delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17042620 | |||||
| chrX:17042647
|
C | CTTT | 1 | a0005c0005t0024g0148 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.772-4698_772-4696d others(5): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17042647 | |||||
| chrX:17042668
|
C | CT | 1 | a0005c0005t0024g0148 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.772-4678dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17042668 | |||||
| chrX:17042708
|
TC | T | 1 | a0005c0005t0024g0148 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.772-4637delC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17042708 | |||||
| chrX:17042806
|
AT | A | 1 | a0005c0005t0024g0148 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.772-4534delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17042806 | |||||
| chrX:17042832
|
A | G | 155 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(152): Show | 155 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(152): Show |
intron_variant | MODIFIER | c.772-4515A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17042832 | ||||||
| chrX:17042853
|
T | TG | 1 | a0001c0001t0002g0122 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.772-4492dupG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17042853 | |||||
| chrX:17042864
|
TG | T | 1 | a0005c0005t0024g0148 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.772-4481delG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17042864 | |||||
| chrX:17042885
|
T | C | 1 | a0005c0005t0024g0148 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.772-4462T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17042885 | ||||||
| chrX:17042886
|
C | T | 1 | a0005c0005t0024g0148 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.772-4461C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17042886 | ||||||
| chrX:17042906
|
G | A | 2 | a0001c0001t0010g0139a0001c0001t0010g0140 | 2 | HG02258.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.772-4441G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17042906 | ||||||
| chrX:17042971
|
AT | A | 1 | a0005c0005t0024g0148 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.772-4370delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17042971 | |||||
| chrX:17042985
|
TG | T | 1 | a0005c0005t0024g0148 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.772-4358delG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17042985 | |||||
| chrX:17043053
|
TC | T | 1 | a0005c0005t0024g0148 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.772-4291delC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17043053 | |||||
| chrX:17043118
|
G | A | 2 | a0001c0001t0010g0139a0001c0001t0010g0140 | 2 | HG02258.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.772-4229G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17043118 | ||||||
| chrX:17043181
|
T | TG | 2 | a0001c0001t0002g0128a0005c0005t0024g0148 | 2 | HG02738.hp1 NA19072.hp1 |
intron_variant | MODIFIER | c.772-4159dupG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17043181 | |||||
| chrX:17043442
|
G | T | 1 | a0001c0001t0013g0030 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.772-3905G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17043442 | ||||||
| chrX:17043504
|
G | GC | 1 | a0001c0001t0003g0012 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.772-3832dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17043504 | |||||
| chrX:17043504
|
GC | G | 5 | a0001c0001t0003g0004a0001c0001t0004g0084a0001c0001t0004g0085others(2): Show | 5 | HG02109.hp1 HG02109.hp2 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.772-3832delC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17043504 | |||||
| chrX:17043504
|
GCC | G | 146 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(143): Show | 146 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(143): Show |
intron_variant | MODIFIER | c.772-3833_772-3832d others(4): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17043504 | |||||
| chrX:17043504
|
GCCC | G | 5 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(2): Show | 5 | HG02258.hp1 HG02922.hp2 HG03453.hp1 others(2): Show |
intron_variant | MODIFIER | c.772-3834_772-3832d others(5): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17043504 | |||||
| chrX:17043510
|
C | A | 1 | a0001c0001t0001g0143 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.772-3837C>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17043510 | ||||||
| chrX:17043510
|
C | G | 1 | a0001c0001t0027g0115 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.772-3837C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17043510 | ||||||
| chrX:17043515
|
C | T | 2 | a0001c0001t0008g0021a0001c0001t0008g0046 | 2 | HG03098.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.772-3832C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17043515 | ||||||
| chrX:17043726
|
CA | C | 1 | a0001c0001t0002g0122 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.772-3618delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17043726 | |||||
| chrX:17043780
|
AG | A | 1 | a0001c0001t0002g0122 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.772-3565delG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17043780 | |||||
| chrX:17043793
|
G | T | 1 | a0001c0001t0002g0122 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.772-3554G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17043793 | ||||||
| chrX:17043794
|
T | C | 1 | a0001c0001t0002g0122 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.772-3553T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17043794 | ||||||
| chrX:17044087
|
C | T | 1 | a0001c0001t0003g0012 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.772-3260C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17044087 | ||||||
| chrX:17044238
|
AG | A | 1 | a0001c0001t0002g0122 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.772-3106delG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17044238 | |||||
| chrX:17044276
|
A | G | 1 | a0001c0001t0016g0020 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.772-3071A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17044276 | ||||||
| chrX:17044365
|
CT | C | 1 | a0001c0001t0002g0122 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.772-2974delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17044365 | |||||
| chrX:17044393
|
C | CA | 1 | a0005c0005t0024g0148 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.772-2950dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17044393 | |||||
| chrX:17044438
|
AG | A | 1 | a0005c0005t0024g0148 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.772-2907delG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17044438 | |||||
| chrX:17044521
|
T | G | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.772-2826T>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17044521 | ||||||
| chrX:17044542
|
T | C | 1 | a0001c0001t0001g0077 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.772-2805T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17044542 | ||||||
| chrX:17044575
|
TC | T | 1 | a0001c0001t0002g0122 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.772-2769delC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17044575 | |||||
| chrX:17044655
|
G | A | 165 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(162): Show | 165 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(162): Show |
intron_variant | MODIFIER | c.772-2692G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17044655 | ||||||
| chrX:17044673
|
C | T | 2 | a0001c0001t0015g0019a0001c0001t0016g0020 | 2 | HG01106.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.772-2674C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17044673 | ||||||
| chrX:17044677
|
A | G | 154 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(151): Show | 154 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(151): Show |
intron_variant | MODIFIER | c.772-2670A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17044677 | ||||||
| chrX:17044700
|
TG | T | 1 | a0005c0005t0024g0148 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.772-2645delG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17044700 | |||||
| chrX:17044743
|
CG | C | 1 | a0001c0001t0002g0122 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.772-2602delG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17044743 | |||||
| chrX:17044761
|
CA | C | 1 | a0005c0005t0024g0148 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.772-2584delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17044761 | |||||
| chrX:17044894
|
T | C | 1 | a0001c0001t0025g0024 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.772-2453T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17044894 | ||||||
| chrX:17044920
|
A | AT | 2 | a0001c0001t0002g0128a0008c0002t0001g0038 | 2 | HG02738.hp1 NA18948.hp1 |
intron_variant | MODIFIER | c.772-2419dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17044920 | |||||
| chrX:17044922
|
T | C | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.772-2425T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17044922 | ||||||
| chrX:17045120
|
A | AT | 1 | a0001c0001t0002g0122 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.772-2227_772-2226i others(3): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17045120 | ||||||
| chrX:17045121
|
C | G | 1 | a0001c0001t0002g0122 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.772-2226C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17045121 | ||||||
| chrX:17045121
|
C | T | 147 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(144): Show | 147 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(144): Show |
intron_variant | MODIFIER | c.772-2226C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17045121 | ||||||
| chrX:17045155
|
A | ACCTGGGT others(149): Show |
3 | a0001c0001t0003g0005a0001c0001t0003g0007a0001c0001t0003g0011 | 3 | HG00140.hp1 HG01167.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.772-2191_772-2190i others(158): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17045155 | |||||
| chrX:17045179
|
C | A | 1 | a0001c0001t0002g0122 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.772-2168C>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17045179 | ||||||
| chrX:17045180
|
A | C | 1 | a0001c0001t0002g0122 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.772-2167A>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17045180 | ||||||
| chrX:17045210
|
C | T | 1 | a0001c0001t0026g0108 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.772-2137C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17045210 | ||||||
| chrX:17045263
|
GA | G | 1 | a0005c0005t0024g0148 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.772-2077delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17045263 | |||||
| chrX:17045290
|
G | GT | 1 | a0005c0005t0024g0148 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.772-2055dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17045290 | |||||
| chrX:17045304
|
C | T | 1 | a0001c0001t0011g0124 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.772-2043C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17045304 | ||||||
| chrX:17045337
|
TA | T | 1 | a0001c0001t0001g0166 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.772-2003delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17045337 | |||||
| chrX:17045342
|
A | G | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.772-2005A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17045342 | ||||||
| chrX:17045348
|
G | GC | 1 | a0001c0001t0002g0122 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.772-1999_772-1998i others(3): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17045348 | ||||||
| chrX:17045854
|
AG | A | 1 | a0005c0005t0024g0148 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.772-1491delG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17045854 | |||||
| chrX:17045916
|
A | AG | 1 | a0001c0001t0002g0122 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.772-1429dupG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17045916 | |||||
| chrX:17045948
|
GGT | G | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.772-1387_772-1386d others(4): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17045948 | |||||
| chrX:17046113
|
G | GC | 1 | a0001c0001t0002g0122 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.772-1232dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17046113 | |||||
| chrX:17046131
|
GC | G | 1 | a0005c0005t0024g0148 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.772-1214delC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17046131 | |||||
| chrX:17046138
|
CT | C | 1 | a0005c0005t0024g0148 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.772-1203delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17046138 | |||||
| chrX:17046145
|
A | T | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.772-1202A>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17046145 | ||||||
| chrX:17046159
|
A | AT | 2 | a0001c0001t0027g0115a0003c0008t0001g0090 | 2 | HG02257.hp2 NA18967.hp1 |
intron_variant | MODIFIER | c.772-1175dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17046159 | |||||
| chrX:17046159
|
AT | A | 5 | a0001c0001t0002g0122a0001c0001t0009g0136a0001c0001t0009g0141others(2): Show | 5 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.772-1175delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17046159 | |||||
| chrX:17046163
|
T | A | 11 | a0001c0001t0002g0104a0001c0001t0002g0128a0001c0001t0004g0044others(8): Show | 11 | HG00438.hp2 HG01069.hp1 HG01071.hp1 others(8): Show |
intron_variant | MODIFIER | c.772-1184T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17046163 | ||||||
| chrX:17046164
|
T | A | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.772-1183T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17046164 | ||||||
| chrX:17046194
|
GC | G | 1 | a0005c0005t0024g0148 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.772-1150delC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17046194 | |||||
| chrX:17046215
|
T | G | 1 | a0001c0010t0001g0027 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.772-1132T>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17046215 | ||||||
| chrX:17046324
|
C | T | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.772-1023C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17046324 | ||||||
| chrX:17046344
|
AT | A | 1 | a0005c0005t0024g0148 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.772-998delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17046344 | |||||
| chrX:17046449
|
T | TA | 1 | a0005c0005t0024g0148 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.772-897dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17046449 | |||||
| chrX:17046499
|
C | CT | 1 | a0005c0005t0024g0148 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.772-848_772-847ins others(1): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17046499 | ||||||
| chrX:17046502
|
CT | C | 1 | a0005c0005t0024g0148 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.772-843delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17046502 | |||||
| chrX:17046582
|
C | T | 1 | a0001c0001t0028g0135 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.772-765C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17046582 | ||||||
| chrX:17046633
|
TGTTTTCT others(17): Show |
T | 1 | a0001c0001t0001g0095 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.772-706_772-683del others(24): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17046633 | |||||
| chrX:17046652
|
TC | T | 1 | a0005c0005t0024g0148 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.772-692delC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17046652 | |||||
| chrX:17046680
|
CA | C | 1 | a0001c0001t0002g0122 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.772-664delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17046680 | |||||
| chrX:17046705
|
T | TG | 1 | a0005c0005t0024g0148 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.772-640dupG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17046705 | |||||
| chrX:17046803
|
CA | C | 1 | a0005c0005t0024g0148 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.772-541delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17046803 | |||||
| chrX:17046811
|
A | G | 154 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(151): Show | 154 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(151): Show |
intron_variant | MODIFIER | c.772-536A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17046811 | ||||||
| chrX:17046851
|
G | GA | 1 | a0001c0001t0002g0122 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.772-495dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17046851 | |||||
| chrX:17046863
|
TG | T | 1 | a0005c0005t0024g0148 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.772-481delG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17046863 | |||||
| chrX:17046997
|
T | TC | 1 | a0005c0005t0024g0148 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.772-348dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17046997 | |||||
| chrX:17047058
|
C | CT | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.772-282dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17047058 | |||||
| chrX:17047058
|
CT | C | 1 | a0001c0001t0001g0079 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.772-282delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17047058 | |||||
| chrX:17047152
|
C | CA | 2 | a0001c0001t0001g0166a0003c0008t0001g0090 | 2 | NA18967.hp1 NA18974.hp1 |
intron_variant | MODIFIER | c.772-189dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17047152 | |||||
| chrX:17047186
|
GT | G | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.772-158delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17047186 | |||||
| chrX:17047240
|
G | GA | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.772-100dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 17047240 | |||||
| chrX:17047584
|
GT | G | 1 | a0005c0005t0024g0148 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.907+105delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17047584 | |||||
| chrX:17047586
|
T | A | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.907+104T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17047586 | ||||||
| chrX:17047598
|
T | TA | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.907+119dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17047598 | |||||
| chrX:17047690
|
T | TG | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.907+211dupG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17047690 | |||||
| chrX:17047698
|
TG | T | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.907+221delG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17047698 | |||||
| chrX:17047759
|
G | GT | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.907+278dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17047759 | |||||
| chrX:17047770
|
A | AG | 1 | a0001c0001t0001g0147 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.907+292dupG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17047770 | |||||
| chrX:17047809
|
C | CG | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.907+330dupG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17047809 | |||||
| chrX:17047836
|
A | AG | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.907+356dupG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17047836 | |||||
| chrX:17047891
|
AG | A | 1 | a0005c0005t0024g0148 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.907+411delG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17047891 | |||||
| chrX:17047897
|
G | GT | 1 | a0005c0005t0024g0148 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.907+419dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17047897 | |||||
| chrX:17047915
|
G | GT | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.907+436dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17047915 | |||||
| chrX:17047927
|
GT | G | 1 | a0008c0002t0001g0038 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.907+450delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17047927 | |||||
| chrX:17047975
|
T | TC | 1 | a0005c0005t0024g0148 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.907+496dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17047975 | |||||
| chrX:17048049
|
C | G | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.907+567C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17048049 | ||||||
| chrX:17048074
|
T | TG | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.907+594dupG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17048074 | |||||
| chrX:17048081
|
AT | A | 1 | a0005c0005t0024g0148 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.907+603delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17048081 | |||||
| chrX:17048089
|
AG | A | 1 | a0008c0002t0001g0038 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.907+609delG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17048089 | |||||
| chrX:17048146
|
CT | C | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.907+669delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17048146 | |||||
| chrX:17048146
|
CTTTTTAG others(4): Show |
C | 1 | a0001c0001t0001g0002 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.907+666_907+676del others(11): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17048146 | |||||
| chrX:17048162
|
AT | A | 1 | a0001c0001t0027g0115 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.907+683delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17048162 | |||||
| chrX:17048198
|
C | A | 1 | a0001c0001t0004g0035 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.907+716C>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17048198 | ||||||
| chrX:17048205
|
T | TAG | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.907+724_907+725ins others(2): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17048205 | |||||
| chrX:17048235
|
CT | C | 1 | a0001c0001t0027g0115 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.907+755delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17048235 | |||||
| chrX:17048243
|
AT | A | 1 | a0005c0005t0024g0148 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.907+762delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17048243 | ||||||
| chrX:17048300
|
TG | T | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.907+820delG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17048300 | |||||
| chrX:17048321
|
C | T | 2 | a0001c0001t0001g0096a0001c0001t0001g0107 | 2 | HG01071.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.907+839C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17048321 | ||||||
| chrX:17048321
|
CG | C | 1 | a0001c0001t0027g0115 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.907+841delG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17048321 | |||||
| chrX:17048339
|
A | G | 1 | a0001c0001t0023g0026 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.907+857A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17048339 | ||||||
| chrX:17048370
|
GA | G | 1 | a0001c0001t0027g0115 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.907+892delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17048370 | |||||
| chrX:17048418
|
T | TA | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.907+937dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17048418 | |||||
| chrX:17048484
|
T | TG | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.907+1003dupG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17048484 | |||||
| chrX:17048492
|
A | AT | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.907+1011dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17048492 | |||||
| chrX:17048566
|
CA | C | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.907+1087delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17048566 | |||||
| chrX:17048597
|
A | AT | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.907+1116dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17048597 | |||||
| chrX:17048600
|
A | AT | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.907+1122dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17048600 | |||||
| chrX:17048608
|
T | TC | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.907+1126_907+1127i others(3): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17048608 | ||||||
| chrX:17048625
|
A | AG | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.907+1143_907+1144i others(3): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17048625 | ||||||
| chrX:17048653
|
G | GCA | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.907+1172_907+1173i others(4): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17048653 | |||||
| chrX:17048654
|
C | CG | 1 | a0001c0001t0001g0147 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.907+1174dupG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17048654 | |||||
| chrX:17048730
|
G | GT | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.907+1250dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17048730 | |||||
| chrX:17048758
|
A | G | 2 | a0001c0001t0015g0019a0001c0001t0016g0020 | 2 | HG01106.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.907+1276A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17048758 | ||||||
| chrX:17048767
|
T | TG | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.907+1286dupG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17048767 | |||||
| chrX:17048852
|
TG | T | 1 | a0001c0001t0001g0146 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.907+1372delG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17048852 | |||||
| chrX:17048875
|
AT | A | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.907+1396delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17048875 | |||||
| chrX:17048888
|
T | TA | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.907+1407dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17048888 | |||||
| chrX:17048890
|
C | CT | 2 | a0001c0001t0001g0065a0003c0008t0001g0090 | 2 | HG02074.hp1 NA18967.hp1 |
intron_variant | MODIFIER | c.907+1415dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17048890 | |||||
| chrX:17048890
|
CT | C | 1 | a0008c0002t0001g0038 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.907+1415delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17048890 | |||||
| chrX:17048907
|
CT | C | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.907+1431delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17048907 | |||||
| chrX:17048929
|
T | TC | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.907+1448dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17048929 | |||||
| chrX:17048955
|
G | GC | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.907+1474dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17048955 | |||||
| chrX:17048976
|
GC | G | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.907+1496delC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17048976 | |||||
| chrX:17049026
|
G | C | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.907+1544G>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049026 | ||||||
| chrX:17049027
|
C | A | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.907+1545C>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049027 | ||||||
| chrX:17049028
|
T | C | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.907+1546T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049028 | ||||||
| chrX:17049029
|
G | T | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.907+1547G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049029 | ||||||
| chrX:17049030
|
G | A | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.907+1548G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049030 | ||||||
| chrX:17049033
|
C | T | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.907+1551C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049033 | ||||||
| chrX:17049034
|
T | C | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.907+1552T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049034 | ||||||
| chrX:17049035
|
A | G | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.907+1553A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049035 | ||||||
| chrX:17049037
|
A | G | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.907+1555A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049037 | ||||||
| chrX:17049038
|
G | T | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.907+1556G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049038 | ||||||
| chrX:17049039
|
G | GTT | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.907+1558_907+1559i others(4): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17049039 | |||||
| chrX:17049063
|
T | TTTTGTAT others(11): Show |
1 | a0001c0001t0005g0048 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.907+1582_907+1599d others(20): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17049063 | |||||
| chrX:17049114
|
CA | C | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.907+1635delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17049114 | |||||
| chrX:17049183
|
G | GA | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.907+1701_907+1702i others(3): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049183 | ||||||
| chrX:17049199
|
T | TG | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.907+1717_907+1718i others(3): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049199 | ||||||
| chrX:17049223
|
T | A | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.907+1741T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049223 | ||||||
| chrX:17049246
|
T | TA | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.907+1772dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17049246 | |||||
| chrX:17049246
|
TA | T | 2 | a0001c0001t0001g0102a0001c0001t0001g0147 | 2 | HG01943.hp1 NA19062.hp1 |
intron_variant | MODIFIER | c.907+1772delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17049246 | |||||
| chrX:17049263
|
T | TA | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.907+1785dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17049263 | |||||
| chrX:17049361
|
T | TC | 1 | a0001c0001t0027g0115 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.907+1880dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17049361 | |||||
| chrX:17049406
|
T | TG | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.907+1925dupG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17049406 | |||||
| chrX:17049432
|
A | AG | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.907+1951dupG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17049432 | |||||
| chrX:17049435
|
G | GT | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.907+1956dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17049435 | |||||
| chrX:17049435
|
G | GTT | 1 | a0001c0001t0001g0102 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.907+1955_907+1956d others(4): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17049435 | |||||
| chrX:17049454
|
AC | A | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.907+1974delC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17049454 | |||||
| chrX:17049456
|
CA | C | 1 | a0001c0001t0001g0166 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.907+1979delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17049456 | |||||
| chrX:17049462
|
G | GTTTATAC others(68): Show |
1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.907+1998_907+1999i others(77): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17049462 | |||||
| chrX:17049506
|
T | C | 154 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(151): Show | 154 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(151): Show |
intron_variant | MODIFIER | c.907+2024T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049506 | ||||||
| chrX:17049509
|
T | TA | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.907+2034dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17049509 | |||||
| chrX:17049518
|
T | A | 1 | a0001c0001t0001g0165 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.907+2036T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049518 | ||||||
| chrX:17049518
|
TA | T | 1 | a0001c0001t0027g0115 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.907+2041delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17049518 | |||||
| chrX:17049527
|
TA | T | 2 | a0001c0001t0001g0166a0001c0001t0005g0138 | 2 | HG03491.hp1 NA18974.hp1 |
intron_variant | MODIFIER | c.907+2050delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17049527 | |||||
| chrX:17049554
|
TA | T | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.907+2075delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17049554 | |||||
| chrX:17049568
|
AT | A | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.907+2091delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17049568 | |||||
| chrX:17049577
|
C | CT | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.907+2095_907+2096i others(3): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049577 | ||||||
| chrX:17049597
|
AT | A | 1 | a0001c0001t0001g0166 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.907+2120delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17049597 | |||||
| chrX:17049605
|
AT | A | 3 | a0001c0001t0005g0138a0007c0007t0001g0060a0008c0002t0001g0038 | 3 | HG02135.hp1 HG03491.hp1 NA18948.hp1 |
intron_variant | MODIFIER | c.907+2128delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17049605 | |||||
| chrX:17049612
|
TG | T | 1 | a0008c0002t0001g0038 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.907+2133delG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17049612 | |||||
| chrX:17049623
|
G | T | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.907+2141G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049623 | ||||||
| chrX:17049636
|
T | TG | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.907+2158dupG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17049636 | |||||
| chrX:17049640
|
G | GT | 1 | a0001c0001t0001g0166 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.907+2159dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17049640 | |||||
| chrX:17049664
|
C | CA | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.907+2183dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17049664 | |||||
| chrX:17049696
|
TG | T | 2 | a0001c0001t0005g0138a0001c0001t0027g0115 | 2 | HG02257.hp2 HG03491.hp1 |
intron_variant | MODIFIER | c.907+2218delG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17049696 | |||||
| chrX:17049709
|
TC | T | 2 | a0001c0001t0001g0076a0001c0001t0005g0138 | 2 | HG03491.hp1 NA19007.hp1 |
intron_variant | MODIFIER | c.907+2229delC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17049709 | |||||
| chrX:17049731
|
GT | G | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.907+2251delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17049731 | |||||
| chrX:17049732
|
TTG | T | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.907+2251_907+2252d others(4): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049732 | ||||||
| chrX:17049735
|
A | G | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.907+2253A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049735 | ||||||
| chrX:17049744
|
T | TG | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.907+2263dupG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17049744 | |||||
| chrX:17049754
|
CT | C | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.907+2274delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17049754 | |||||
| chrX:17049761
|
T | A | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.907+2279T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049761 | ||||||
| chrX:17049762
|
A | T | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.907+2280A>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049762 | ||||||
| chrX:17049762
|
AT | A | 1 | a0001c0001t0027g0115 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.907+2284delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17049762 | |||||
| chrX:17049766
|
T | A | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.907+2284T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049766 | ||||||
| chrX:17049766
|
TA | T | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.907+2288delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17049766 | |||||
| chrX:17049782
|
GT | G | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.907+2305delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17049782 | |||||
| chrX:17049810
|
A | G | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.907+2328A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049810 | ||||||
| chrX:17049815
|
A | AT | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.907+2333_907+2334i others(3): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049815 | ||||||
| chrX:17049823
|
AG | A | 1 | a0008c0002t0001g0038 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.907+2343delG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17049823 | |||||
| chrX:17049835
|
AT | A | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.907+2357delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17049835 | |||||
| chrX:17049838
|
T | G | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.907+2356T>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049838 | ||||||
| chrX:17049839
|
TA | T | 1 | a0001c0001t0001g0166 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.907+2360delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17049839 | |||||
| chrX:17049857
|
AAC | A | 1 | a0001c0001t0001g0166 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.907+2376_907+2377d others(4): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049857 | ||||||
| chrX:17049860
|
T | C | 1 | a0001c0001t0001g0166 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.907+2378T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049860 | ||||||
| chrX:17049860
|
T | TA | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.907+2378_907+2379i others(3): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049860 | ||||||
| chrX:17049870
|
AG | A | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.907+2390delG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17049870 | |||||
| chrX:17049895
|
A | AT | 7 | a0001c0001t0001g0040a0001c0001t0001g0064a0001c0001t0001g0079others(4): Show | 7 | HG01934.hp1 HG02738.hp1 NA18955.hp1 others(4): Show |
intron_variant | MODIFIER | c.907+2424dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17049895 | |||||
| chrX:17049895
|
AT | A | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.907+2424delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17049895 | |||||
| chrX:17049909
|
TA | T | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.907+2430delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17049909 | |||||
| chrX:17049926
|
G | GA | 1 | a0001c0001t0001g0147 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.907+2445dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17049926 | |||||
| chrX:17049932
|
G | A | 1 | a0001c0001t0002g0126 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.907+2450G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049932 | ||||||
| chrX:17049942
|
TA | T | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2437delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17049942 | |||||
| chrX:17049952
|
A | AT | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2430_908-2429i others(3): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049952 | ||||||
| chrX:17049954
|
T | TA | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2427dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17049954 | |||||
| chrX:17049956
|
G | T | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2426G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049956 | ||||||
| chrX:17049959
|
T | TG | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.908-2423_908-2422i others(3): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049959 | ||||||
| chrX:17049963
|
G | GC | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2419_908-2418i others(3): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049963 | ||||||
| chrX:17049967
|
T | G | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.908-2415T>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049967 | ||||||
| chrX:17049972
|
TAG | T | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2409_908-2408d others(4): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049972 | ||||||
| chrX:17049976
|
C | T | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2406C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049976 | ||||||
| chrX:17049978
|
T | A | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2404T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049978 | ||||||
| chrX:17049979
|
TCA | T | 2 | a0001c0001t0001g0034a0001c0001t0005g0138 | 2 | HG00609.hp1 HG03491.hp1 |
intron_variant | MODIFIER | c.908-2400_908-2399d others(4): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17049979 | |||||
| chrX:17049985
|
T | C | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2397T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049985 | ||||||
| chrX:17049988
|
C | CCT | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.908-2394_908-2393i others(4): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049988 | ||||||
| chrX:17049989
|
T | A | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2393T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049989 | ||||||
| chrX:17049991
|
AC | A | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2389delC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17049991 | |||||
| chrX:17049996
|
T | A | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2386T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049996 | ||||||
| chrX:17050001
|
C | A | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2381C>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050001 | ||||||
| chrX:17050002
|
TCTG | T | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2379_908-2377d others(5): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050002 | ||||||
| chrX:17050006
|
A | T | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2376A>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050006 | ||||||
| chrX:17050011
|
CCT | C | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2370_908-2369d others(4): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050011 | ||||||
| chrX:17050015
|
G | T | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2367G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050015 | ||||||
| chrX:17050017
|
G | T | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2365G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050017 | ||||||
| chrX:17050023
|
TC | T | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.908-2357delC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050023 | |||||
| chrX:17050023
|
TCC | T | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2358_908-2357d others(4): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050023 | ||||||
| chrX:17050027
|
G | T | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2355G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050027 | ||||||
| chrX:17050028
|
T | G | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2354T>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050028 | ||||||
| chrX:17050031
|
T | G | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.908-2351T>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050031 | ||||||
| chrX:17050032
|
G | A | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2350G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050032 | ||||||
| chrX:17050034
|
A | C | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2348A>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050034 | ||||||
| chrX:17050035
|
AG | A | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2346delG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050035 | ||||||
| chrX:17050037
|
C | T | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2345C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050037 | ||||||
| chrX:17050039
|
C | A | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2343C>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050039 | ||||||
| chrX:17050040
|
C | T | 86 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(83): Show | 86 | HG00280.hp1 HG00438.hp1 HG00609.hp1 others(83): Show |
intron_variant | MODIFIER | c.908-2342C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050040 | ||||||
| chrX:17050041
|
A | T | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2341A>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050041 | ||||||
| chrX:17050047
|
GGTA | G | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2334_908-2332d others(5): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050047 | ||||||
| chrX:17050051
|
A | AC | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.908-2331_908-2330i others(3): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050051 | ||||||
| chrX:17050053
|
G | T | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2329G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050053 | ||||||
| chrX:17050054
|
G | A | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2328G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050054 | ||||||
| chrX:17050058
|
TA | T | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2323delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050058 | ||||||
| chrX:17050060
|
C | T | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2322C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050060 | ||||||
| chrX:17050062
|
A | C | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2320A>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050062 | ||||||
| chrX:17050065
|
G | T | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2317G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050065 | ||||||
| chrX:17050068
|
A | AC | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2314_908-2313i others(3): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050068 | ||||||
| chrX:17050071
|
C | CA | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2310dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050071 | |||||
| chrX:17050072
|
AT | A | 2 | a0001c0001t0001g0166a0007c0007t0001g0060 | 2 | HG02135.hp1 NA18974.hp1 |
intron_variant | MODIFIER | c.908-2305delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050072 | |||||
| chrX:17050076
|
T | A | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2306T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050076 | ||||||
| chrX:17050078
|
C | CT | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2304_908-2303i others(3): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050078 | ||||||
| chrX:17050080
|
T | A | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2302T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050080 | ||||||
| chrX:17050081
|
C | CT | 1 | a0006c0006t0005g0032 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.908-2297dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050081 | |||||
| chrX:17050081
|
CT | C | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.908-2297delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050081 | |||||
| chrX:17050082
|
T | A | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2300T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050082 | ||||||
| chrX:17050086
|
A | C | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2296A>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050086 | ||||||
| chrX:17050092
|
T | TGTCTACT others(168): Show |
1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2290_908-2289i others(177): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050092 | ||||||
| chrX:17050093
|
A | T | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2289A>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050093 | ||||||
| chrX:17050096
|
T | C | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2286T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050096 | ||||||
| chrX:17050101
|
T | TTA | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2281_908-2280i others(4): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050101 | ||||||
| chrX:17050104
|
G | T | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2278G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050104 | ||||||
| chrX:17050105
|
C | T | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2277C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050105 | ||||||
| chrX:17050106
|
C | CT | 2 | a0001c0001t0001g0094a0007c0007t0001g0060 | 2 | HG02135.hp1 NA18952.hp1 |
intron_variant | MODIFIER | c.908-2272dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050106 | |||||
| chrX:17050106
|
CT | C | 1 | a0001c0001t0005g0029 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.908-2272delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050106 | |||||
| chrX:17050107
|
T | A | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2275T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050107 | ||||||
| chrX:17050109
|
T | A | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2273T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050109 | ||||||
| chrX:17050115
|
G | C | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2267G>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050115 | ||||||
| chrX:17050119
|
C | CTTCTTTC others(587): Show |
1 | a0001c0001t0005g0029 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.908-2254_908-2253i others(596): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050119 | |||||
| chrX:17050119
|
C | CTTCTTTC others(170): Show |
1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.908-2254_908-2253i others(179): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050119 | |||||
| chrX:17050121
|
T | TCTTCCTT others(37): Show |
1 | a0001c0001t0001g0143 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.908-2258_908-2257i others(46): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050121 | |||||
| chrX:17050122
|
C | CT | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2257dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050122 | |||||
| chrX:17050122
|
CT | C | 2 | a0001c0001t0001g0094a0001c0001t0001g0166 | 2 | NA18952.hp1 NA18974.hp1 |
intron_variant | MODIFIER | c.908-2257delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050122 | |||||
| chrX:17050125
|
T | C | 1 | a0001c0001t0001g0143 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.908-2257T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050125 | ||||||
| chrX:17050125
|
T | TCTTCCTT others(117): Show |
1 | a0001c0001t0001g0144 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.908-2254_908-2253i others(126): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050125 | |||||
| chrX:17050125
|
T | TCTTTCTT others(1): Show |
1 | a0001c0001t0020g0045 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.908-2241_908-2234d others(10): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050125 | |||||
| chrX:17050129
|
T | C | 1 | a0001c0001t0001g0143 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.908-2253T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050129 | ||||||
| chrX:17050129
|
T | TCTTCCTT others(1): Show |
3 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0140 | 3 | HG02258.hp1 HG02922.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.908-2246_908-2245i others(10): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050129 | |||||
| chrX:17050133
|
C | CCTTCCTT others(93): Show |
1 | a0001c0001t0001g0152 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.908-2246_908-2245i others(102): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050133 | |||||
| chrX:17050133
|
C | CCTTCCTT others(81): Show |
1 | a0001c0001t0001g0158 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.908-2246_908-2245i others(90): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050133 | |||||
| chrX:17050133
|
C | CCTTCCTT others(80): Show |
1 | a0001c0001t0001g0154 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.908-2246_908-2245i others(89): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050133 | |||||
| chrX:17050133
|
C | CCTTCCTT others(73): Show |
1 | a0001c0001t0001g0153 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.908-2246_908-2245i others(82): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050133 | |||||
| chrX:17050133
|
C | CCTTCCTT others(97): Show |
1 | a0001c0001t0001g0160 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.908-2246_908-2245i others(106): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050133 | |||||
| chrX:17050133
|
C | CCTTCCTT others(159): Show |
1 | a0001c0001t0001g0089 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.908-2246_908-2245i others(168): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050133 | |||||
| chrX:17050133
|
C | CCTTCTTC others(476): Show |
1 | a0001c0001t0001g0095 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.908-2246_908-2245i others(485): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050133 | |||||
| chrX:17050133
|
C | CCTTCTTC others(555): Show |
1 | a0001c0001t0001g0058 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.908-2246_908-2245i others(564): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050133 | |||||
| chrX:17050133
|
C | CCTTTCTT others(380): Show |
1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.908-2242_908-2241i others(389): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050133 | |||||
| chrX:17050133
|
C | CCTTTCTT others(49): Show |
1 | a0001c0001t0001g0072 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.908-2242_908-2241i others(58): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050133 | |||||
| chrX:17050133
|
C | T | 4 | a0001c0001t0001g0144a0001c0001t0005g0029a0001c0001t0005g0138others(1): Show | 4 | HG02083.hp1 HG03491.hp1 NA18967.hp1 others(1): Show |
intron_variant | MODIFIER | c.908-2249C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050133 | ||||||
| chrX:17050137
|
T | C | 6 | a0001c0001t0001g0143a0001c0001t0001g0157a0001c0001t0009g0136others(3): Show | 6 | HG02015.hp1 HG02258.hp1 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.908-2245T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050137 | ||||||
| chrX:17050137
|
T | TCTTC | 1 | a0001c0001t0002g0163 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.908-2241_908-2238d others(6): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050137 | |||||
| chrX:17050137
|
T | TCTTCCTT others(53): Show |
1 | a0001c0001t0001g0161 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.908-2238_908-2237i others(62): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050137 | |||||
| chrX:17050137
|
T | TCTTCCTT others(61): Show |
3 | a0001c0001t0001g0150a0001c0001t0001g0166a0001c0001t0021g0151 | 3 | NA18974.hp1 NA18977.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.908-2238_908-2237i others(70): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050137 | |||||
| chrX:17050137
|
T | TCTTCCTT others(69): Show |
1 | a0001c0001t0001g0156 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.908-2238_908-2237i others(78): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050137 | |||||
| chrX:17050137
|
T | TCTTCCTT others(77): Show |
2 | a0001c0001t0001g0149a0001c0001t0001g0155 | 2 | NA18989.hp1 NA19068.hp1 |
intron_variant | MODIFIER | c.908-2238_908-2237i others(86): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050137 | |||||
| chrX:17050137
|
T | TCTTCCTT others(85): Show |
1 | a0001c0001t0001g0147 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.908-2238_908-2237i others(94): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050137 | |||||
| chrX:17050137
|
T | TCTTCCTT others(70): Show |
1 | a0005c0005t0024g0148 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.908-2238_908-2237i others(79): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050137 | |||||
| chrX:17050141
|
C | CCTTCCTT others(306): Show |
1 | a0001c0001t0005g0033 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.908-2238_908-2237i others(315): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(97): Show |
1 | a0001c0001t0001g0157 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.908-2238_908-2237i others(106): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(294): Show |
1 | a0001c0001t0019g0101 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.908-2238_908-2237i others(303): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(265): Show |
1 | a0006c0006t0005g0032 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.908-2238_908-2237i others(274): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(449): Show |
1 | a0001c0001t0001g0002 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.908-2238_908-2237i others(458): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(85): Show |
1 | a0001c0001t0001g0145 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.908-2238_908-2237i others(94): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(209): Show |
1 | a0001c0001t0005g0048 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.908-2238_908-2237i others(218): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(146): Show |
1 | a0001c0001t0005g0050 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.908-2238_908-2237i others(155): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(97): Show |
1 | a0001c0001t0001g0103 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.908-2238_908-2237i others(106): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(85): Show |
1 | a0001c0001t0005g0036 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.908-2238_908-2237i others(94): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(105): Show |
1 | a0001c0001t0001g0096 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.908-2238_908-2237i others(114): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(77): Show |
1 | a0001c0001t0001g0018 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.908-2238_908-2237i others(86): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(77): Show |
1 | a0001c0001t0001g0093 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.908-2238_908-2237i others(86): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(81): Show |
1 | a0001c0001t0001g0142 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.908-2238_908-2237i others(90): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(89): Show |
1 | a0001c0001t0001g0159 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.908-2238_908-2237i others(98): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(213): Show |
1 | a0001c0001t0001g0165 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.908-2238_908-2237i others(222): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(238): Show |
1 | a0001c0001t0005g0051 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.908-2238_908-2237i others(247): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(100): Show |
1 | a0001c0001t0005g0086 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.908-2238_908-2237i others(109): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(81): Show |
2 | a0001c0001t0001g0078a0001c0001t0001g0107 | 2 | HG01109.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.908-2238_908-2237i others(90): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(57): Show |
1 | a0001c0001t0001g0037 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.908-2238_908-2237i others(66): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(89): Show |
1 | a0001c0001t0013g0030 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.908-2238_908-2237i others(98): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(253): Show |
1 | a0001c0010t0001g0027 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.908-2238_908-2237i others(262): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(77): Show |
1 | a0001c0001t0001g0043 | 1 | HG01517.hp1 | intron_variant | MODIFIER | c.908-2238_908-2237i others(86): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(81): Show |
2 | a0001c0001t0001g0042a0001c0001t0001g0053 | 2 | HG01515.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.908-2238_908-2237i others(90): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(97): Show |
1 | a0001c0001t0001g0146 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.908-2238_908-2237i others(106): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(177): Show |
1 | a0001c0001t0001g0061 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.908-2238_908-2237i others(186): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(33): Show |
1 | a0001c0001t0001g0034 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.908-2238_908-2237i others(42): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(105): Show |
1 | a0001c0001t0022g0098 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.908-2238_908-2237i others(114): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(121): Show |
1 | a0001c0001t0023g0026 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.908-2238_908-2237i others(130): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(125): Show |
1 | a0008c0002t0001g0038 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.908-2238_908-2237i others(134): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(29): Show |
1 | a0001c0001t0001g0059 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.908-2238_908-2237i others(38): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(45): Show |
1 | a0001c0001t0001g0025 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.908-2238_908-2237i others(54): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(49): Show |
2 | a0001c0001t0001g0067a0002c0009t0001g0063 | 2 | HG00738.hp1 HG03704.hp1 |
intron_variant | MODIFIER | c.908-2238_908-2237i others(58): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(53): Show |
2 | a0001c0001t0001g0028a0001c0001t0001g0041 | 2 | HG02056.hp1 NA19063.hp1 |
intron_variant | MODIFIER | c.908-2238_908-2237i others(62): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(69): Show |
1 | a0001c0001t0001g0069 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.908-2238_908-2237i others(78): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(77): Show |
1 | a0001c0001t0001g0099 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.908-2238_908-2237i others(86): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(97): Show |
1 | a0001c0001t0001g0080 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.908-2238_908-2237i others(106): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(145): Show |
1 | a0001c0001t0001g0102 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.908-2238_908-2237i others(154): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(496): Show |
1 | a0001c0001t0001g0094 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.908-2238_908-2237i others(505): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(180): Show |
1 | a0001c0001t0001g0065 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.908-2238_908-2237i others(189): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(41): Show |
1 | a0001c0001t0001g0001 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.908-2238_908-2237i others(50): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(45): Show |
2 | a0001c0001t0001g0066a0001c0003t0001g0055 | 2 | HG00735.hp2 HG01192.hp1 |
intron_variant | MODIFIER | c.908-2238_908-2237i others(54): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(201): Show |
1 | a0001c0001t0001g0077 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.908-2238_908-2237i others(210): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(65): Show |
1 | a0001c0001t0001g0047 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.908-2238_908-2237i others(74): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(169): Show |
1 | a0001c0001t0001g0162 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.908-2238_908-2237i others(178): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(101): Show |
1 | a0001c0001t0001g0088 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.908-2238_908-2237i others(110): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(105): Show |
2 | a0001c0001t0001g0062a0001c0001t0001g0079 | 2 | NA18959.hp1 NA18994.hp1 |
intron_variant | MODIFIER | c.908-2238_908-2237i others(114): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(121): Show |
1 | a0001c0001t0001g0071 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.908-2238_908-2237i others(130): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(133): Show |
1 | a0001c0001t0001g0070 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.908-2238_908-2237i others(142): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(229): Show |
1 | a0001c0001t0001g0054 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.908-2238_908-2237i others(238): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(207): Show |
1 | a0001c0001t0001g0040 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.908-2238_908-2237i others(216): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(5): Show |
1 | a0001c0001t0010g0139 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.908-2238_908-2237i others(14): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(9): Show |
1 | a0001c0001t0002g0123 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.908-2238_908-2237i others(18): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(1): Show |
5 | a0001c0001t0002g0016a0001c0001t0002g0049a0001c0001t0002g0104others(2): Show | 5 | HG00438.hp2 HG00621.hp1 HG02602.hp1 others(2): Show |
intron_variant | MODIFIER | c.908-2238_908-2237i others(10): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(5): Show |
4 | a0001c0001t0002g0015a0001c0001t0002g0039a0001c0001t0002g0119others(1): Show | 4 | HG03654.hp1 NA18747.hp1 NA18960.hp1 others(1): Show |
intron_variant | MODIFIER | c.908-2238_908-2237i others(14): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(105): Show |
1 | a0001c0001t0006g0134 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.908-2238_908-2237i others(114): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(101): Show |
1 | a0001c0001t0006g0132 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.908-2238_908-2237i others(110): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(9): Show |
5 | a0001c0001t0002g0017a0001c0001t0002g0022a0001c0001t0002g0105others(2): Show | 5 | HG02040.hp1 HG03492.hp1 HG03710.hp1 others(2): Show |
intron_variant | MODIFIER | c.908-2238_908-2237i others(18): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(113): Show |
1 | a0001c0001t0006g0133 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.908-2238_908-2237i others(122): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(13): Show |
2 | a0001c0001t0002g0116a0001c0001t0002g0125 | 2 | HG01433.hp1 HG04228.hp1 |
intron_variant | MODIFIER | c.908-2238_908-2237i others(22): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(21): Show |
1 | a0001c0001t0011g0124 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.908-2238_908-2237i others(30): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(25): Show |
1 | a0001c0001t0002g0121 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.908-2238_908-2237i others(34): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(29): Show |
2 | a0001c0001t0002g0130a0001c0001t0026g0108 | 2 | HG03942.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.908-2238_908-2237i others(38): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(37): Show |
2 | a0001c0001t0002g0113a0001c0001t0002g0117 | 2 | HG03704.hp2 HG04204.hp1 |
intron_variant | MODIFIER | c.908-2238_908-2237i others(46): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTCCTT others(121): Show |
1 | a0001c0001t0002g0128 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.908-2238_908-2237i others(130): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTT | 3 | a0001c0001t0001g0083a0001c0001t0004g0035a0001c0001t0004g0085 | 3 | HG02055.hp1 HG02109.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.908-2188_908-2185d others(6): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTTCTT others(1): Show |
3 | a0001c0001t0003g0009a0001c0001t0004g0092a0001c0001t0018g0057 | 3 | HG02723.hp1 HG02922.hp1 HG03669.hp1 |
intron_variant | MODIFIER | c.908-2192_908-2185d others(10): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTTCTT others(385): Show |
1 | a0001c0001t0027g0115 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.908-2230_908-2229i others(394): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTTCTT others(9): Show |
2 | a0001c0001t0001g0023a0001c0001t0004g0044 | 2 | HG02886.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.908-2200_908-2185d others(18): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTTCTT others(17): Show |
1 | a0001c0001t0020g0045 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.908-2208_908-2185d others(26): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTTCTT others(25): Show |
1 | a0001c0001t0008g0021 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.908-2216_908-2185d others(34): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTTCTT others(33): Show |
1 | a0001c0001t0015g0019 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.908-2224_908-2185d others(42): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | CCTTTCTT others(73): Show |
1 | a0001c0001t0001g0073 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.908-2185_908-2184i others(82): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
C | T | 14 | a0001c0001t0001g0072a0001c0001t0001g0089a0001c0001t0001g0095others(11): Show | 14 | HG01167.hp1 HG02083.hp1 HG02129.hp1 others(11): Show |
intron_variant | MODIFIER | c.908-2241C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050141 | ||||||
| chrX:17050141
|
CCTTT | C | 2 | a0001c0001t0003g0012a0004c0004t0003g0014 | 2 | HG03927.hp2 NA19057.hp1 |
intron_variant | MODIFIER | c.908-2188_908-2185d others(6): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
CCTTTCTT others(1): Show |
C | 1 | a0001c0001t0003g0005 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.908-2192_908-2185d others(10): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050141
|
CCTTTCTT others(9): Show |
C | 1 | a0001c0001t0028g0135 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.908-2200_908-2185d others(18): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050141 | |||||
| chrX:17050142
|
C | T | 1 | a0001c0001t0001g0058 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.908-2240C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050142 | ||||||
| chrX:17050145
|
T | C | 19 | a0001c0001t0001g0052a0001c0001t0001g0064a0001c0001t0001g0076others(16): Show | 19 | HG01074.hp1 HG01928.hp1 HG01934.hp1 others(16): Show |
intron_variant | MODIFIER | c.908-2237T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050145 | ||||||
| chrX:17050147
|
T | A | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2235T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050147 | ||||||
| chrX:17050147
|
T | TTCCTTCC others(307): Show |
1 | a0001c0001t0001g0076 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.908-2234_908-2233i others(316): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050147 | |||||
| chrX:17050149
|
T | C | 4 | a0001c0001t0001g0052a0001c0001t0001g0064a0001c0001t0001g0143others(1): Show | 4 | HG01928.hp1 HG01934.hp1 HG02015.hp1 others(1): Show |
intron_variant | MODIFIER | c.908-2233T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050149 | ||||||
| chrX:17050152
|
T | A | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2230T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050152 | ||||||
| chrX:17050153
|
T | C | 3 | a0001c0001t0001g0052a0001c0001t0001g0064a0001c0001t0001g0161 | 3 | HG01928.hp1 HG01934.hp1 NA18943.hp1 |
intron_variant | MODIFIER | c.908-2229T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050153 | ||||||
| chrX:17050154
|
C | CTT | 1 | a0001c0001t0001g0058 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.908-2226_908-2225d others(4): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050154 | |||||
| chrX:17050157
|
T | C | 2 | a0001c0001t0001g0052a0001c0001t0001g0064 | 2 | HG01934.hp1 NA18943.hp1 |
intron_variant | MODIFIER | c.908-2225T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050157 | ||||||
| chrX:17050164
|
T | G | 1 | a0001c0001t0005g0086 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.908-2218T>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050164 | ||||||
| chrX:17050168
|
T | TCAATATC others(93): Show |
1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2214_908-2213i others(102): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050168 | ||||||
| chrX:17050169
|
T | A | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2213T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050169 | ||||||
| chrX:17050170
|
C | CT | 1 | a0001c0001t0001g0094 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.908-2209dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050170 | |||||
| chrX:17050171
|
T | TTTC | 2 | a0003c0008t0001g0090a0007c0007t0001g0060 | 2 | HG02135.hp1 NA18967.hp1 |
intron_variant | MODIFIER | c.908-2208_908-2206d others(5): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050171 | |||||
| chrX:17050174
|
C | CT | 4 | a0001c0001t0001g0025a0001c0001t0001g0028a0001c0001t0001g0041others(1): Show | 4 | HG02056.hp1 HG02132.hp1 HG02257.hp2 others(1): Show |
intron_variant | MODIFIER | c.908-2205dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050174 | |||||
| chrX:17050177
|
T | TC | 1 | a0001c0001t0001g0165 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.908-2204dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050177 | |||||
| chrX:17050178
|
C | CT | 1 | a0001c0001t0001g0037 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.908-2201dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050178 | |||||
| chrX:17050180
|
T | G | 1 | a0001c0001t0005g0086 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.908-2202T>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050180 | ||||||
| chrX:17050182
|
C | CT | 1 | a0001c0001t0001g0146 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.908-2197dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050182 | |||||
| chrX:17050186
|
C | CT | 1 | a0001c0001t0001g0040 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.908-2193dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050186 | |||||
| chrX:17050187
|
T | TTTC | 1 | a0001c0001t0001g0095 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.908-2192_908-2190d others(5): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050187 | |||||
| chrX:17050187
|
TTTCTTTC | T | 1 | a0001c0001t0017g0013 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.908-2192_908-2186d others(9): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050187 | |||||
| chrX:17050188
|
T | TCTA | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2194_908-2193i others(5): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050188 | ||||||
| chrX:17050189
|
T | C | 1 | a0001c0001t0001g0089 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.908-2193T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050189 | ||||||
| chrX:17050189
|
T | TC | 1 | a0001c0001t0001g0165 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.908-2192dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050189 | |||||
| chrX:17050190
|
C | CT | 10 | a0001c0001t0001g0053a0001c0001t0001g0062a0001c0001t0001g0069others(7): Show | 10 | HG01255.hp1 HG01256.hp1 HG01943.hp1 others(7): Show |
intron_variant | MODIFIER | c.908-2189dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050190 | |||||
| chrX:17050190
|
C | CTTTCTTT others(61): Show |
1 | a0001c0001t0001g0052 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.908-2185_908-2184i others(70): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050190 | |||||
| chrX:17050190
|
C | CTTTTCT | 1 | a0001c0001t0001g0080 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.908-2189_908-2188i others(8): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050190 | |||||
| chrX:17050190
|
C | CTTTTCTT others(4): Show |
2 | a0001c0001t0001g0059a0002c0009t0001g0063 | 2 | HG03239.hp1 HG03704.hp1 |
intron_variant | MODIFIER | c.908-2189_908-2188i others(13): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050190 | |||||
| chrX:17050190
|
C | CTTTTCTT others(9): Show |
2 | a0001c0001t0001g0034a0001c0001t0013g0030 | 2 | HG00609.hp1 NA18982.hp1 |
intron_variant | MODIFIER | c.908-2189_908-2188i others(18): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050190 | |||||
| chrX:17050190
|
C | T | 1 | a0001c0001t0001g0089 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.908-2192C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050190 | ||||||
| chrX:17050190
|
CTTTCTTT others(1): Show |
C | 2 | a0001c0001t0001g0056a0001c0001t0001g0087 | 2 | HG03579.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.908-2188_908-2181d others(10): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050190 | |||||
| chrX:17050191
|
T | TTC | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.908-2190_908-2189i others(4): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050191 | |||||
| chrX:17050193
|
T | C | 2 | a0001c0001t0001g0149a0005c0005t0024g0148 | 2 | NA19068.hp1 NA19072.hp1 |
intron_variant | MODIFIER | c.908-2189T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050193 | ||||||
| chrX:17050193
|
TC | T | 1 | a0001c0001t0001g0155 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.908-2188delC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050193 | ||||||
| chrX:17050194
|
C | CT | 7 | a0001c0001t0001g0037a0001c0001t0001g0040a0001c0001t0001g0078others(4): Show | 7 | HG01109.hp1 HG02129.hp1 HG02922.hp2 others(4): Show |
intron_variant | MODIFIER | c.908-2172dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050194 | |||||
| chrX:17050194
|
C | CTT | 10 | a0001c0001t0001g0018a0001c0001t0001g0142a0001c0001t0001g0143others(7): Show | 10 | HG02015.hp1 HG02258.hp1 HG02698.hp1 others(7): Show |
intron_variant | MODIFIER | c.908-2173_908-2172d others(4): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050194 | |||||
| chrX:17050194
|
C | CTTT | 2 | a0001c0001t0001g0147a0001c0001t0001g0158 | 2 | NA18945.hp1 NA19062.hp1 |
intron_variant | MODIFIER | c.908-2174_908-2172d others(5): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050194 | |||||
| chrX:17050194
|
C | CTTTCTTT others(2): Show |
1 | a0001c0001t0003g0004 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.908-2185_908-2184i others(11): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050194 | |||||
| chrX:17050194
|
C | CTTTCTTT others(54): Show |
1 | a0001c0001t0001g0064 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.908-2185_908-2184i others(63): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050194 | |||||
| chrX:17050194
|
C | CTTTTCT | 5 | a0001c0001t0001g0001a0001c0001t0001g0047a0001c0001t0001g0066others(2): Show | 5 | HG00642.hp1 HG00735.hp2 HG01099.hp1 others(2): Show |
intron_variant | MODIFIER | c.908-2184_908-2183i others(8): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050194 | |||||
| chrX:17050194
|
C | T | 6 | a0001c0001t0001g0043a0001c0001t0001g0054a0001c0001t0001g0061others(3): Show | 6 | HG00673.hp1 HG01517.hp1 HG03831.hp1 others(3): Show |
intron_variant | MODIFIER | c.908-2188C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050194 | ||||||
| chrX:17050194
|
CT | C | 1 | a0001c0001t0001g0058 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.908-2172delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050194 | |||||
| chrX:17050194
|
CTTT | C | 1 | a0001c0001t0002g0111 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.908-2174_908-2172d others(5): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050194 | |||||
| chrX:17050194
|
CTTTTTTT | C | 1 | a0001c0001t0004g0100 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.908-2178_908-2172d others(9): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050194 | |||||
| chrX:17050195
|
T | C | 3 | a0001c0001t0001g0043a0001c0001t0001g0054a0001c0001t0001g0070 | 3 | HG00673.hp1 HG01517.hp1 NA19085.hp1 |
intron_variant | MODIFIER | c.908-2187T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050195 | ||||||
| chrX:17050195
|
T | TGTCTTTC | 1 | a0001c0001t0005g0086 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.908-2187_908-2186i others(9): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050195 | ||||||
| chrX:17050195
|
T | TTTC | 12 | a0001c0001t0001g0002a0001c0001t0001g0096a0001c0001t0001g0107others(9): Show | 12 | HG00280.hp1 HG00438.hp1 HG01071.hp2 others(9): Show |
intron_variant | MODIFIER | c.908-2185_908-2184i others(5): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050195 | |||||
| chrX:17050195
|
T | TTTCTTTC | 1 | a0001c0001t0001g0068 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.908-2185_908-2184i others(9): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050195 | |||||
| chrX:17050195
|
T | TTTCTTTC others(78): Show |
1 | a0001c0001t0025g0024 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.908-2185_908-2184i others(87): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050195 | |||||
| chrX:17050195
|
T | TTTCTTTC others(24): Show |
1 | a0001c0001t0002g0106 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.908-2185_908-2184i others(33): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050195 | |||||
| chrX:17050195
|
T | TTTCTTTC others(28): Show |
1 | a0001c0001t0008g0046 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.908-2185_908-2184i others(37): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050195 | |||||
| chrX:17050195
|
T | TTTCTTTC others(160): Show |
1 | a0001c0001t0001g0031 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.908-2185_908-2184i others(169): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050195 | |||||
| chrX:17050195
|
T | TTTTCTTT others(7): Show |
1 | a0001c0001t0001g0067 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.908-2184_908-2183i others(16): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050195 | |||||
| chrX:17050196
|
T | A | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2186T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050196 | ||||||
| chrX:17050196
|
T | C | 1 | a0005c0005t0024g0148 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.908-2186T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050196 | ||||||
| chrX:17050196
|
T | TTC | 11 | a0001c0001t0001g0076a0001c0001t0001g0082a0001c0001t0001g0093others(8): Show | 11 | HG00735.hp1 HG01243.hp1 HG01261.hp1 others(8): Show |
intron_variant | MODIFIER | c.908-2185_908-2184i others(4): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050196 | |||||
| chrX:17050196
|
T | TTCTTTC | 3 | a0001c0001t0001g0091a0001c0001t0004g0084a0001c0001t0016g0020 | 3 | HG02723.hp2 HG03453.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.908-2185_908-2184i others(8): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050196 | |||||
| chrX:17050196
|
T | TTCTTTCT others(11): Show |
2 | a0001c0001t0002g0129a0001c0001t0002g0164 | 2 | HG03491.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.908-2185_908-2184i others(20): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050196 | |||||
| chrX:17050196
|
T | TTCTTTCT others(43): Show |
1 | a0001c0001t0002g0097 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.908-2185_908-2184i others(52): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050196 | |||||
| chrX:17050196
|
T | TTCTTTCT others(47): Show |
1 | a0001c0001t0002g0131 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.908-2185_908-2184i others(56): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050196 | |||||
| chrX:17050196
|
T | TTTC | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.908-2184_908-2183i others(5): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050196 | |||||
| chrX:17050196
|
T | TTTCTTTT others(1): Show |
2 | a0001c0001t0001g0065a0001c0001t0001g0077 | 2 | HG02074.hp1 NA19056.hp1 |
intron_variant | MODIFIER | c.908-2184_908-2183i others(10): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050196 | |||||
| chrX:17050196
|
T | TTTCTTTT others(6): Show |
1 | a0008c0002t0001g0038 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.908-2184_908-2183i others(15): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050196 | |||||
| chrX:17050197
|
T | TC | 5 | a0001c0001t0001g0042a0001c0001t0001g0156a0001c0001t0019g0101others(2): Show | 5 | HG01515.hp1 HG01952.hp1 HG02257.hp2 others(2): Show |
intron_variant | MODIFIER | c.908-2185_908-2184i others(3): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050197 | ||||||
| chrX:17050197
|
T | TCTTTC | 1 | a0001c0001t0002g0122 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.908-2185_908-2184i others(7): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050197 | ||||||
| chrX:17050197
|
T | TCTTTCTT others(6): Show |
1 | a0001c0001t0002g0112 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.908-2185_908-2184i others(15): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050197 | ||||||
| chrX:17050197
|
T | TCTTTCTT others(26): Show |
1 | a0001c0001t0012g0120 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.908-2185_908-2184i others(35): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050197 | ||||||
| chrX:17050197
|
T | TCTTTCTT others(42): Show |
1 | a0001c0001t0002g0127 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.908-2185_908-2184i others(51): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050197 | ||||||
| chrX:17050197
|
T | TTCTTTC | 1 | a0001c0001t0001g0079 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.908-2184_908-2183i others(8): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050197 | |||||
| chrX:17050198
|
T | C | 47 | a0001c0001t0001g0023a0001c0001t0001g0072a0001c0001t0001g0073others(44): Show | 47 | HG00280.hp1 HG00438.hp2 HG00621.hp1 others(44): Show |
intron_variant | MODIFIER | c.908-2184T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050198 | ||||||
| chrX:17050199
|
T | A | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2183T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050199 | ||||||
| chrX:17050199
|
T | C | 13 | a0001c0001t0001g0002a0001c0001t0001g0031a0001c0001t0001g0058others(10): Show | 13 | HG00438.hp1 HG01074.hp1 HG01256.hp1 others(10): Show |
intron_variant | MODIFIER | c.908-2183T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050199 | ||||||
| chrX:17050200
|
T | A | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2182T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050200 | ||||||
| chrX:17050200
|
T | C | 12 | a0001c0001t0001g0082a0001c0001t0001g0091a0001c0001t0001g0094others(9): Show | 12 | HG00735.hp1 HG01261.hp1 HG02293.hp1 others(9): Show |
intron_variant | MODIFIER | c.908-2182T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050200 | ||||||
| chrX:17050201
|
T | C | 5 | a0001c0001t0002g0112a0001c0001t0002g0127a0001c0001t0012g0120others(2): Show | 5 | HG02135.hp1 HG02257.hp2 HG02735.hp1 others(2): Show |
intron_variant | MODIFIER | c.908-2181T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050201 | ||||||
| chrX:17050202
|
T | C | 1 | a0001c0001t0006g0133 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.908-2180T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050202 | ||||||
| chrX:17050203
|
T | C | 7 | a0001c0001t0001g0002a0001c0001t0001g0058a0001c0001t0001g0094others(4): Show | 7 | HG00438.hp1 HG02071.hp1 HG02083.hp1 others(4): Show |
intron_variant | MODIFIER | c.908-2179T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050203 | ||||||
| chrX:17050204
|
T | C | 2 | a0001c0001t0005g0033a0001c0001t0005g0050 | 2 | HG00735.hp1 HG01261.hp1 |
intron_variant | MODIFIER | c.908-2178T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050204 | ||||||
| chrX:17050207
|
T | C | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2175T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050207 | ||||||
| chrX:17050211
|
G | C | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2171G>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050211 | ||||||
| chrX:17050212
|
A | AAACAAAC others(74): Show |
1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2170_908-2169i others(83): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050212 | ||||||
| chrX:17050220
|
T | A | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2162T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050220 | ||||||
| chrX:17050221
|
T | A | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2161T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050221 | ||||||
| chrX:17050225
|
C | T | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2157C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050225 | ||||||
| chrX:17050227
|
G | T | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2155G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050227 | ||||||
| chrX:17050228
|
TGC | T | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2153_908-2152d others(4): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050228 | ||||||
| chrX:17050232
|
T | A | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2150T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050232 | ||||||
| chrX:17050235
|
G | T | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2147G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050235 | ||||||
| chrX:17050237
|
TG | T | 1 | a0001c0001t0027g0115 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.908-2143delG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050237 | |||||
| chrX:17050237
|
TGGAGTGC others(1): Show |
T | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2143_908-2136d others(10): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050237 | |||||
| chrX:17050246
|
G | A | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2136G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050246 | ||||||
| chrX:17050248
|
G | T | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2134G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050248 | ||||||
| chrX:17050249
|
A | C | 2 | a0001c0001t0005g0138a0001c0001t0027g0115 | 2 | HG02257.hp2 HG03491.hp1 |
intron_variant | MODIFIER | c.908-2133A>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050249 | ||||||
| chrX:17050251
|
G | T | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2131G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050251 | ||||||
| chrX:17050253
|
G | C | 2 | a0001c0001t0001g0058a0001c0001t0005g0138 | 2 | HG03491.hp1 NA18612.hp1 |
intron_variant | MODIFIER | c.908-2129G>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050253 | ||||||
| chrX:17050254
|
A | C | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2128A>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050254 | ||||||
| chrX:17050256
|
C | A | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2126C>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050256 | ||||||
| chrX:17050258
|
CG | C | 2 | a0001c0001t0001g0166a0007c0007t0001g0060 | 2 | HG02135.hp1 NA18974.hp1 |
intron_variant | MODIFIER | c.908-2122delG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050258 | |||||
| chrX:17050259
|
G | A | 2 | a0001c0001t0005g0029a0001c0001t0005g0033 | 2 | HG01261.hp1 HG02083.hp1 |
intron_variant | MODIFIER | c.908-2123G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050259 | ||||||
| chrX:17050259
|
G | T | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2123G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050259 | ||||||
| chrX:17050260
|
G | T | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2122G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050260 | ||||||
| chrX:17050261
|
C | A | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2121C>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050261 | ||||||
| chrX:17050263
|
C | A | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2119C>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050263 | ||||||
| chrX:17050267
|
G | A | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2115G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050267 | ||||||
| chrX:17050270
|
G | T | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2112G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050270 | ||||||
| chrX:17050271
|
C | CT | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2111_908-2110i others(3): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050271 | ||||||
| chrX:17050273
|
T | C | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2109T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050273 | ||||||
| chrX:17050274
|
T | A | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2108T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050274 | ||||||
| chrX:17050275
|
G | A | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2107G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050275 | ||||||
| chrX:17050276
|
A | G | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2106A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050276 | ||||||
| chrX:17050282
|
T | A | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2100T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050282 | ||||||
| chrX:17050284
|
G | C | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2098G>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050284 | ||||||
| chrX:17050285
|
G | T | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2097G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050285 | ||||||
| chrX:17050286
|
C | T | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2096C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050286 | ||||||
| chrX:17050287
|
T | G | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2095T>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050287 | ||||||
| chrX:17050290
|
A | C | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2092A>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050290 | ||||||
| chrX:17050291
|
G | C | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2091G>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050291 | ||||||
| chrX:17050293
|
G | GA | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.908-2088dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050293 | |||||
| chrX:17050297
|
C | A | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2085C>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050297 | ||||||
| chrX:17050298
|
T | TC | 1 | a0001c0001t0001g0094 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.908-2081dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050298 | |||||
| chrX:17050298
|
TC | T | 2 | a0001c0001t0001g0166a0007c0007t0001g0060 | 2 | HG02135.hp1 NA18974.hp1 |
intron_variant | MODIFIER | c.908-2081delC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050298 | |||||
| chrX:17050299
|
C | CA | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2083_908-2082i others(3): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050299 | ||||||
| chrX:17050302
|
A | AC | 1 | a0001c0001t0001g0076 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.908-2078dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050302 | |||||
| chrX:17050308
|
G | GC | 1 | a0001c0001t0001g0076 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.908-2072dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050308 | |||||
| chrX:17050310
|
C | CA | 1 | a0001c0001t0005g0033 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.908-2072_908-2071i others(3): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050310 | ||||||
| chrX:17050311
|
T | C | 1 | a0001c0001t0001g0094 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.908-2071T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050311 | ||||||
| chrX:17050312
|
C | T | 1 | a0001c0001t0001g0094 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.908-2070C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050312 | ||||||
| chrX:17050322
|
T | G | 1 | a0001c0001t0001g0076 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.908-2060T>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050322 | ||||||
| chrX:17050331
|
AG | A | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2049delG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050331 | |||||
| chrX:17050345
|
AT | A | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2036delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050345 | ||||||
| chrX:17050352
|
G | GT | 1 | a0001c0001t0001g0058 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.908-2030_908-2029i others(3): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050352 | ||||||
| chrX:17050356
|
G | T | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2026G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050356 | ||||||
| chrX:17050361
|
A | AT | 1 | a0001c0001t0005g0033 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.908-2014dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050361 | |||||
| chrX:17050365
|
TTTTG | T | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2015_908-2012d others(6): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050365 | |||||
| chrX:17050374
|
G | T | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2008G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050374 | ||||||
| chrX:17050378
|
AG | A | 1 | a0001c0001t0001g0058 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.908-2002delG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050378 | |||||
| chrX:17050381
|
T | TC | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.908-2000dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050381 | |||||
| chrX:17050387
|
T | A | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-1995T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050387 | ||||||
| chrX:17050397
|
AG | A | 1 | a0001c0001t0001g0094 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.908-1983delG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050397 | |||||
| chrX:17050415
|
AG | A | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-1966delG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050415 | ||||||
| chrX:17050450
|
TC | T | 1 | a0001c0001t0001g0166 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.908-1929delC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050450 | |||||
| chrX:17050458
|
GC | G | 1 | a0001c0001t0001g0166 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.908-1922delC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050458 | |||||
| chrX:17050487
|
G | A | 150 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(147): Show | 150 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(147): Show |
intron_variant | MODIFIER | c.908-1895G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050487 | ||||||
| chrX:17050507
|
A | AG | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.908-1874dupG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050507 | |||||
| chrX:17050513
|
AG | A | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-1867delG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050513 | |||||
| chrX:17050515
|
G | GT | 1 | a0001c0001t0001g0058 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.908-1865dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050515 | |||||
| chrX:17050520
|
A | AC | 1 | a0001c0001t0005g0033 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.908-1860dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050520 | |||||
| chrX:17050538
|
A | AT | 1 | a0001c0001t0001g0058 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.908-1843dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050538 | |||||
| chrX:17050544
|
G | T | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-1838G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050544 | ||||||
| chrX:17050558
|
G | T | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-1824G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050558 | ||||||
| chrX:17050573
|
AC | A | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-1806delC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050573 | |||||
| chrX:17050603
|
AC | A | 1 | a0001c0001t0005g0033 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.908-1777delC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050603 | |||||
| chrX:17050605
|
C | CA | 1 | a0001c0001t0001g0166 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.908-1777_908-1776i others(3): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050605 | ||||||
| chrX:17050621
|
C | CAG | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.908-1759_908-1758d others(4): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050621 | |||||
| chrX:17050633
|
C | CT | 1 | a0001c0001t0001g0058 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.908-1744dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050633 | |||||
| chrX:17050663
|
TG | T | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-1717delG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050663 | |||||
| chrX:17050691
|
TA | T | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.908-1689delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050691 | |||||
| chrX:17050699
|
T | A | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-1683T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050699 | ||||||
| chrX:17050700
|
A | G | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-1682A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050700 | ||||||
| chrX:17050701
|
G | GT | 2 | a0001c0001t0001g0054a0008c0002t0001g0038 | 2 | HG00673.hp1 NA18948.hp1 |
intron_variant | MODIFIER | c.908-1671dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050701 | |||||
| chrX:17050701
|
G | T | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-1681G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050701 | ||||||
| chrX:17050701
|
GT | G | 2 | a0001c0001t0005g0048a0001c0001t0005g0051 | 2 | HG00280.hp1 HG03017.hp1 |
intron_variant | MODIFIER | c.908-1671delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050701 | |||||
| chrX:17050742
|
TA | T | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-1639delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050742 | ||||||
| chrX:17050764
|
C | CA | 1 | a0001c0001t0001g0058 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.908-1617dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050764 | |||||
| chrX:17050767
|
GT | G | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.908-1611delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050767 | |||||
| chrX:17050777
|
A | T | 1 | a0001c0001t0001g0058 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.908-1605A>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050777 | ||||||
| chrX:17050805
|
TG | T | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-1575delG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050805 | |||||
| chrX:17050812
|
T | TG | 1 | a0001c0001t0005g0033 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.908-1566dupG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050812 | |||||
| chrX:17050834
|
AT | A | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-1545delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050834 | |||||
| chrX:17050848
|
T | A | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-1534T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050848 | ||||||
| chrX:17050861
|
AG | A | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-1520delG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050861 | ||||||
| chrX:17050862
|
G | A | 154 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(151): Show | 154 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(151): Show |
intron_variant | MODIFIER | c.908-1520G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050862 | ||||||
| chrX:17050863
|
T | A | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-1519T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050863 | ||||||
| chrX:17050882
|
TA | T | 1 | a0001c0001t0001g0076 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.908-1496delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050882 | |||||
| chrX:17050901
|
AT | A | 1 | a0006c0006t0005g0032 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.908-1479delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050901 | |||||
| chrX:17050914
|
A | AC | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.908-1465dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050914 | |||||
| chrX:17050924
|
G | GC | 1 | a0001c0001t0005g0033 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.908-1457dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050924 | |||||
| chrX:17050979
|
G | GT | 1 | a0001c0001t0001g0058 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.908-1403_908-1402i others(3): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050979 | ||||||
| chrX:17050983
|
T | TC | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.908-1395dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050983 | |||||
| chrX:17050985
|
C | CT | 1 | a0001c0001t0001g0094 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.908-1397_908-1396i others(3): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050985 | ||||||
| chrX:17050993
|
GC | G | 1 | a0001c0001t0001g0041 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.908-1385delC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17050993 | |||||
| chrX:17051001
|
T | C | 1 | a0001c0001t0001g0058 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.908-1381T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17051001 | ||||||
| chrX:17051005
|
TC | T | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-1374delC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17051005 | |||||
| chrX:17051016
|
A | AC | 1 | a0006c0006t0005g0032 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.908-1362dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17051016 | |||||
| chrX:17051057
|
TC | T | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.908-1323delC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17051057 | |||||
| chrX:17051072
|
AT | A | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-1306delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17051072 | |||||
| chrX:17051078
|
AT | A | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-1299delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17051078 | |||||
| chrX:17051092
|
C | G | 1 | a0001c0001t0001g0031 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.908-1290C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17051092 | ||||||
| chrX:17051092
|
CA | C | 1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-1287delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17051092 | |||||
| chrX:17051110
|
G | GT | 1 | a0006c0006t0005g0032 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.908-1269dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17051110 | |||||
| chrX:17051141
|
TA | T | 1 | a0001c0001t0001g0095 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.908-1239delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17051141 | |||||
| chrX:17051207
|
TG | T | 1 | a0001c0001t0001g0058 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.908-1173delG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17051207 | |||||
| chrX:17051219
|
A | AC | 1 | a0006c0006t0005g0032 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.908-1159dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17051219 | |||||
| chrX:17051245
|
T | G | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.908-1137T>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17051245 | ||||||
| chrX:17051247
|
C | CT | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.908-1132dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17051247 | |||||
| chrX:17051299
|
TA | T | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.908-1080delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17051299 | |||||
| chrX:17051372
|
AC | A | 1 | a0001c0001t0005g0033 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.908-1007delC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17051372 | |||||
| chrX:17051373
|
C | CA | 1 | a0001c0001t0001g0058 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.908-1009_908-1008i others(3): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17051373 | ||||||
| chrX:17051399
|
TG | T | 1 | a0001c0001t0001g0058 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.908-981delG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17051399 | |||||
| chrX:17051416
|
G | GT | 1 | a0001c0001t0001g0058 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.908-962dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17051416 | |||||
| chrX:17051416
|
GT | G | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.908-962delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17051416 | |||||
| chrX:17051431
|
TC | T | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.908-949delC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17051431 | |||||
| chrX:17051452
|
G | GT | 1 | a0001c0001t0001g0041 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.908-928dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17051452 | |||||
| chrX:17051492
|
A | AG | 1 | a0001c0001t0001g0058 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.908-888dupG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17051492 | |||||
| chrX:17051513
|
A | AC | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.908-867dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17051513 | |||||
| chrX:17051547
|
TC | T | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.908-833delC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17051547 | |||||
| chrX:17051568
|
A | T | 1 | a0001c0001t0001g0041 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.908-814A>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17051568 | ||||||
| chrX:17051589
|
G | GT | 1 | a0001c0001t0001g0058 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.908-791dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17051589 | |||||
| chrX:17051633
|
TA | T | 1 | a0001c0001t0001g0041 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.908-747delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17051633 | |||||
| chrX:17051643
|
T | G | 1 | a0001c0001t0001g0058 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.908-739T>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17051643 | ||||||
| chrX:17051661
|
G | GT | 1 | a0001c0001t0005g0033 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.908-716dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17051661 | |||||
| chrX:17051679
|
A | AT | 1 | a0001c0001t0001g0058 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.908-698dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17051679 | |||||
| chrX:17051685
|
AT | A | 1 | a0006c0006t0005g0032 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.908-694delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17051685 | |||||
| chrX:17051725
|
C | CA | 2 | a0001c0001t0001g0058a0007c0007t0001g0060 | 2 | HG02135.hp1 NA18612.hp1 |
intron_variant | MODIFIER | c.908-654dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17051725 | |||||
| chrX:17051728
|
ACTGT | A | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.908-653_908-650del others(4): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17051728 | ||||||
| chrX:17051734
|
CTGGG | C | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.908-647_908-644del others(4): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17051734 | ||||||
| chrX:17051740
|
G | C | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.908-642G>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17051740 | ||||||
| chrX:17051741
|
C | T | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.908-641C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17051741 | ||||||
| chrX:17051742
|
T | A | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.908-640T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17051742 | ||||||
| chrX:17051745
|
A | T | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.908-637A>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17051745 | ||||||
| chrX:17051746
|
A | C | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.908-636A>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17051746 | ||||||
| chrX:17051749
|
A | G | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.908-633A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17051749 | ||||||
| chrX:17051750
|
TTCAA | T | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.908-631_908-628del others(4): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17051750 | ||||||
| chrX:17051755
|
A | G | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.908-627A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17051755 | ||||||
| chrX:17051757
|
TCA | T | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.908-624_908-623del others(2): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17051757 | ||||||
| chrX:17051772
|
T | TC | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.908-609dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17051772 | |||||
| chrX:17051886
|
TA | T | 1 | a0001c0001t0001g0058 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.908-494delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17051886 | |||||
| chrX:17051935
|
T | TC | 1 | a0001c0001t0005g0033 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.908-444dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17051935 | |||||
| chrX:17051935
|
TC | T | 1 | a0001c0001t0001g0078 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.908-444delC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17051935 | |||||
| chrX:17051976
|
G | T | 1 | a0001c0001t0001g0058 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.908-406G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17051976 | ||||||
| chrX:17051995
|
T | G | 1 | a0001c0001t0005g0033 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.908-387T>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17051995 | ||||||
| chrX:17051996
|
G | T | 1 | a0001c0001t0005g0033 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.908-386G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17051996 | ||||||
| chrX:17052032
|
AT | A | 1 | a0001c0001t0001g0058 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.908-347delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17052032 | |||||
| chrX:17052052
|
GT | G | 1 | a0001c0001t0001g0058 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.908-328delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17052052 | |||||
| chrX:17052087
|
G | GA | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.908-290dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17052087 | |||||
| chrX:17052101
|
AT | A | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.908-277delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17052101 | |||||
| chrX:17052121
|
G | GA | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.908-258dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17052121 | |||||
| chrX:17052146
|
T | TC | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.908-236_908-235ins others(1): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17052146 | ||||||
| chrX:17052163
|
T | TA | 1 | a0006c0006t0005g0032 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.908-218dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17052163 | |||||
| chrX:17052195
|
A | AT | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.908-182dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17052195 | |||||
| chrX:17052200
|
T | TA | 1 | a0001c0001t0005g0033 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.908-176dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17052200 | |||||
| chrX:17052236
|
A | AT | 1 | a0001c0001t0001g0058 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.908-144dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17052236 | |||||
| chrX:17052241
|
TA | T | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.908-139delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17052241 | |||||
| chrX:17052250
|
T | A | 1 | a0001c0001t0001g0058 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.908-132T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17052250 | ||||||
| chrX:17052254
|
G | GA | 1 | a0001c0001t0001g0058 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.908-126dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17052254 | |||||
| chrX:17052266
|
T | TTG | 1 | a0001c0001t0001g0058 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.908-113_908-112dup others(2): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17052266 | |||||
| chrX:17052280
|
A | AAG | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.908-98_908-97dupGA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17052280 | |||||
| chrX:17052301
|
A | AT | 1 | a0001c0001t0001g0058 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.908-79dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17052301 | |||||
| chrX:17052355
|
G | GT | 1 | a0001c0001t0005g0033 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.908-24dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 17052355 | |||||
| chrX:17052464
|
A | AC | 1 | a0001c0001t0001g0058 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.971+19_971+20insC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 7/17 | chrX | 17052464 | ||||||
| chrX:17052525
|
AG | A | 1 | a0001c0001t0001g0058 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.971+82delG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chrX | 17052525 | |||||
| chrX:17052526
|
G | GGCTTATG others(11): Show |
1 | a0001c0001t0001g0078 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.971+83_971+100dupC others(17): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chrX | 17052526 | |||||
| chrX:17052533
|
G | GT | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.971+92dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chrX | 17052533 | |||||
| chrX:17052565
|
G | A | 148 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(145): Show | 148 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(145): Show |
intron_variant | MODIFIER | c.971+120G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 7/17 | chrX | 17052565 | ||||||
| chrX:17052580
|
A | AT | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.971+140dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chrX | 17052580 | |||||
| chrX:17052627
|
C | CA | 1 | a0001c0001t0005g0033 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.971+184dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chrX | 17052627 | |||||
| chrX:17052632
|
T | TC | 1 | a0001c0001t0001g0058 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.971+188dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chrX | 17052632 | |||||
| chrX:17052658
|
G | GGT | 1 | a0001c0001t0001g0058 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.971+213_971+214ins others(2): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 7/17 | chrX | 17052658 | ||||||
| chrX:17052660
|
T | A | 1 | a0001c0001t0001g0058 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.971+215T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 7/17 | chrX | 17052660 | ||||||
| chrX:17052725
|
G | GT | 1 | a0001c0001t0001g0058 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.971+282dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chrX | 17052725 | |||||
| chrX:17052788
|
A | C | 1 | a0001c0001t0005g0033 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.971+343A>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 7/17 | chrX | 17052788 | ||||||
| chrX:17052805
|
A | AG | 1 | a0001c0001t0005g0033 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.971+361dupG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chrX | 17052805 | |||||
| chrX:17052812
|
CA | C | 1 | a0001c0001t0001g0058 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.971+370delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chrX | 17052812 | |||||
| chrX:17052818
|
A | AT | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.971+379dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chrX | 17052818 | |||||
| chrX:17052912
|
CA | C | 1 | a0006c0006t0005g0032 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.971+470delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chrX | 17052912 | |||||
| chrX:17052949
|
A | AG | 1 | a0001c0001t0001g0058 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.971+505dupG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chrX | 17052949 | |||||
| chrX:17052968
|
C | T | 1 | a0001c0001t0001g0073 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.971+523C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 7/17 | chrX | 17052968 | ||||||
| chrX:17053009
|
T | TG | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.971+567dupG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chrX | 17053009 | |||||
| chrX:17053017
|
T | TC | 1 | a0001c0001t0001g0058 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.971+574dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chrX | 17053017 | |||||
| chrX:17053051
|
T | C | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.971+606T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 7/17 | chrX | 17053051 | ||||||
| chrX:17053067
|
T | TC | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.971+623dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chrX | 17053067 | |||||
| chrX:17053073
|
C | CT | 1 | a0001c0001t0001g0058 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.971+629dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chrX | 17053073 | |||||
| chrX:17053136
|
T | TA | 1 | a0001c0001t0001g0070 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.971+696dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chrX | 17053136 | |||||
| chrX:17053338
|
C | CA | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.971+895dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chrX | 17053338 | |||||
| chrX:17053368
|
G | GTT | 1 | a0001c0001t0005g0033 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.971+928_971+929dup others(2): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chrX | 17053368 | |||||
| chrX:17053387
|
G | GT | 3 | a0001c0001t0002g0128a0001c0001t0005g0033a0003c0008t0001g0090 | 3 | HG01261.hp1 HG02738.hp1 NA18967.hp1 |
intron_variant | MODIFIER | c.971+949dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chrX | 17053387 | |||||
| chrX:17053442
|
A | AT | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.971+999dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chrX | 17053442 | |||||
| chrX:17053442
|
AT | A | 1 | a0001c0001t0005g0033 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.971+999delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chrX | 17053442 | |||||
| chrX:17053609
|
T | TG | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.971+1167dupG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chrX | 17053609 | |||||
| chrX:17053626
|
G | GC | 1 | a0007c0007t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.972-1180dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chrX | 17053626 | |||||
| chrX:17053647
|
A | G | 2 | a0001c0001t0015g0019a0001c0001t0016g0020 | 2 | HG01106.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.972-1161A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 7/17 | chrX | 17053647 | ||||||
| chrX:17053690
|
GA | G | 1 | a0001c0001t0005g0051 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.972-1114delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chrX | 17053690 | |||||
| chrX:17053908
|
G | T | 1 | a0001c0001t0003g0004 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.972-900G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 7/17 | chrX | 17053908 | ||||||
| chrX:17053908
|
GT | G | 1 | a0001c0001t0005g0051 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.972-898delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chrX | 17053908 | |||||
| chrX:17053959
|
C | G | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.972-849C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 7/17 | chrX | 17053959 | ||||||
| chrX:17054017
|
C | G | 1 | a0001c0001t0001g0058 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.972-791C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 7/17 | chrX | 17054017 | ||||||
| chrX:17054242
|
T | TGA | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.972-564_972-563dup others(2): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chrX | 17054242 | |||||
| chrX:17054297
|
C | CA | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.972-506dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chrX | 17054297 | |||||
| chrX:17054308
|
G | A | 1 | a0001c0001t0028g0135 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.972-500G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 7/17 | chrX | 17054308 | ||||||
| chrX:17054404
|
A | AT | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.972-404_972-403ins others(1): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 7/17 | chrX | 17054404 | ||||||
| chrX:17054448
|
TC | T | 1 | a0001c0001t0005g0033 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.972-358delC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chrX | 17054448 | |||||
| chrX:17054742
|
C | T | 1 | a0001c0001t0001g0079 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.972-66C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 7/17 | chrX | 17054742 | ||||||
| chrX:17054969
|
C | T | 40 | a0001c0001t0001g0001a0001c0001t0001g0025a0001c0001t0001g0028others(37): Show | 40 | HG00609.hp1 HG00642.hp1 HG00673.hp1 others(37): Show |
intron_variant | MODIFIER | c.1114+19C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | chrX | 17054969 | ||||||
| chrX:17055101
|
GTGA | G | 2 | a0001c0001t0001g0077a0001c0001t0001g0162 | 2 | NA19056.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.1114+158_1114+160d others(5): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chrX | 17055101 | |||||
| chrX:17055140
|
A | G | 1 | a0001c0001t0001g0091 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1114+190A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | chrX | 17055140 | ||||||
| chrX:17055247
|
A | G | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1114+297A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | chrX | 17055247 | ||||||
| chrX:17055353
|
T | G | 8 | a0001c0001t0005g0029a0001c0001t0005g0033a0001c0001t0005g0036others(5): Show | 8 | HG00280.hp1 HG00735.hp1 HG01261.hp1 others(5): Show |
intron_variant | MODIFIER | c.1114+403T>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | chrX | 17055353 | ||||||
| chrX:17055528
|
A | G | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1114+578A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | chrX | 17055528 | ||||||
| chrX:17055536
|
T | TA | 1 | a0001c0001t0005g0033 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.1114+588dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chrX | 17055536 | |||||
| chrX:17055583
|
TC | T | 1 | a0001c0001t0005g0033 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.1114+636delC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chrX | 17055583 | |||||
| chrX:17055604
|
AG | A | 1 | a0001c0001t0001g0166 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.1114+657delG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chrX | 17055604 | |||||
| chrX:17055659
|
T | TA | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1114+715dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chrX | 17055659 | |||||
| chrX:17055739
|
C | CA | 1 | a0001c0001t0001g0166 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.1114+795dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chrX | 17055739 | |||||
| chrX:17055747
|
C | CA | 1 | a0003c0008t0001g0090 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1114+800dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chrX | 17055747 | |||||
| chrX:17055755
|
G | A | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1114+805G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | chrX | 17055755 | ||||||
| chrX:17055850
|
AG | A | 1 | a0001c0001t0001g0166 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.1114+906delG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chrX | 17055850 | |||||
| chrX:17056007
|
A | C | 1 | a0001c0001t0001g0052 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.1114+1057A>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | chrX | 17056007 | ||||||
| chrX:17056019
|
C | CA | 1 | a0004c0004t0003g0014 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.1114+1081dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chrX | 17056019 | |||||
| chrX:17056019
|
CAAAA | C | 3 | a0001c0001t0001g0031a0001c0001t0001g0096a0001c0001t0001g0107 | 3 | HG01071.hp2 HG02647.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1114+1078_1114+108 others(8): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chrX | 17056019 | |||||
| chrX:17056022
|
A | AC | 2 | a0001c0001t0001g0166a0003c0008t0001g0090 | 2 | NA18967.hp1 NA18974.hp1 |
intron_variant | MODIFIER | c.1114+1072_1114+107 others(5): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | chrX | 17056022 | ||||||
| chrX:17056023
|
A | C | 143 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(140): Show | 143 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(140): Show |
intron_variant | MODIFIER | c.1114+1073A>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | chrX | 17056023 | ||||||
| chrX:17056072
|
TG | T | 1 | a0001c0001t0001g0166 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.1114+1126delG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chrX | 17056072 | |||||
| chrX:17056143
|
A | T | 59 | a0001c0001t0001g0023a0001c0001t0001g0031a0001c0001t0001g0056others(56): Show | 59 | HG00438.hp2 HG00621.hp1 HG01069.hp1 others(56): Show |
intron_variant | MODIFIER | c.1114+1193A>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | chrX | 17056143 | ||||||
| chrX:17056198
|
TG | T | 1 | a0001c0001t0001g0166 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.1114+1250delG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chrX | 17056198 | |||||
| chrX:17056486
|
G | A | 3 | a0001c0001t0001g0002a0001c0001t0001g0058a0001c0001t0001g0165 | 3 | HG00438.hp1 NA18612.hp1 NA18971.hp1 |
intron_variant | MODIFIER | c.1114+1536G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | chrX | 17056486 | ||||||
| chrX:17056627
|
G | A | 1 | a0001c0003t0001g0055 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.1114+1677G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | chrX | 17056627 | ||||||
| chrX:17056649
|
C | T | 2 | a0001c0001t0001g0076a0001c0001t0001g0095 | 2 | NA18944.hp1 NA19007.hp1 |
intron_variant | MODIFIER | c.1114+1699C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | chrX | 17056649 | ||||||
| chrX:17056666
|
GC | G | 1 | a0001c0001t0001g0166 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.1114+1718delC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chrX | 17056666 | |||||
| chrX:17056693
|
T | TA | 152 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(149): Show | 152 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(149): Show |
intron_variant | MODIFIER | c.1114+1754dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chrX | 17056693 | |||||
| chrX:17056693
|
TA | T | 1 | a0001c0001t0003g0005 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.1114+1754delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chrX | 17056693 | |||||
| chrX:17056962
|
A | G | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1114+2012A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | chrX | 17056962 | ||||||
| chrX:17057054
|
GC | G | 1 | a0001c0001t0001g0166 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.1114+2108delC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chrX | 17057054 | |||||
| chrX:17057153
|
A | G | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1114+2203A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | chrX | 17057153 | ||||||
| chrX:17057267
|
A | G | 1 | a0001c0001t0001g0002 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.1114+2317A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | chrX | 17057267 | ||||||
| chrX:17057296
|
T | C | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1114+2346T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | chrX | 17057296 | ||||||
| chrX:17057302
|
C | T | 1 | a0001c0001t0006g0134 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.1114+2352C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | chrX | 17057302 | ||||||
| chrX:17057525
|
T | C | 2 | a0001c0001t0003g0012a0001c0001t0017g0013 | 2 | NA19057.hp1 NA19083.hp1 |
intron_variant | MODIFIER | c.1114+2575T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | chrX | 17057525 | ||||||
| chrX:17057547
|
C | G | 1 | a0001c0001t0006g0134 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.1114+2597C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | chrX | 17057547 | ||||||
| chrX:17057615
|
G | T | 1 | a0001c0001t0001g0159 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.1114+2665G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | chrX | 17057615 | ||||||
| chrX:17057790
|
GC | G | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1114+2841delC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | chrX | 17057790 | ||||||
| chrX:17057916
|
G | A | 85 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(82): Show | 85 | HG00280.hp1 HG00438.hp1 HG00609.hp1 others(82): Show |
intron_variant | MODIFIER | c.1114+2966G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | chrX | 17057916 | ||||||
| chrX:17058062
|
A | T | 1 | a0001c0001t0002g0003 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.1114+3112A>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | chrX | 17058062 | ||||||
| chrX:17058452
|
C | CAA | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1114+3520_1114+352 others(6): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chrX | 17058452 | |||||
| chrX:17058452
|
CA | C | 138 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(135): Show | 138 | HG00280.hp1 HG00438.hp2 HG00609.hp1 others(135): Show |
intron_variant | MODIFIER | c.1114+3521delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chrX | 17058452 | |||||
| chrX:17058452
|
CAA | C | 4 | a0001c0001t0001g0082a0001c0001t0002g0130a0001c0001t0005g0033others(1): Show | 4 | HG01261.hp1 HG02965.hp1 NA18948.hp1 others(1): Show |
intron_variant | MODIFIER | c.1114+3520_1114+352 others(6): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chrX | 17058452 | |||||
| chrX:17058498
|
G | GA | 1 | a0001c0001t0001g0078 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1114+3551dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chrX | 17058498 | |||||
| chrX:17058605
|
T | TA | 1 | a0001c0001t0001g0078 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1114+3661dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chrX | 17058605 | |||||
| chrX:17058693
|
C | T | 1 | a0001c0001t0001g0054 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.1114+3743C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | chrX | 17058693 | ||||||
| chrX:17058912
|
C | CT | 1 | a0001c0001t0002g0128 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.1115-3519dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chrX | 17058912 | |||||
| chrX:17059013
|
C | CT | 1 | a0001c0001t0001g0147 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.1115-3410dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chrX | 17059013 | |||||
| chrX:17059013
|
CT | C | 2 | a0001c0001t0001g0078a0005c0005t0024g0148 | 2 | HG01109.hp1 NA19072.hp1 |
intron_variant | MODIFIER | c.1115-3410delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chrX | 17059013 | |||||
| chrX:17059033
|
C | T | 2 | a0001c0001t0001g0054a0001c0001t0001g0065 | 2 | HG00673.hp1 HG02074.hp1 |
intron_variant | MODIFIER | c.1115-3405C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | chrX | 17059033 | ||||||
| chrX:17059079
|
C | T | 1 | a0001c0001t0001g0066 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.1115-3359C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | chrX | 17059079 | ||||||
| chrX:17059163
|
A | G | 1 | a0001c0001t0015g0019 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.1115-3275A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | chrX | 17059163 | ||||||
| chrX:17059177
|
AT | A | 1 | a0001c0001t0001g0078 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1115-3255delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chrX | 17059177 | |||||
| chrX:17059299
|
G | GT | 6 | a0001c0001t0001g0040a0001c0001t0001g0065a0001c0001t0001g0144others(3): Show | 6 | HG02074.hp1 HG02109.hp1 HG02109.hp2 others(3): Show |
intron_variant | MODIFIER | c.1115-3122dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chrX | 17059299 | |||||
| chrX:17059299
|
GT | G | 1 | a0001c0001t0019g0101 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.1115-3122delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chrX | 17059299 | |||||
| chrX:17059316
|
TA | T | 1 | a0001c0001t0001g0078 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1115-3119delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chrX | 17059316 | |||||
| chrX:17059475
|
A | AT | 1 | a0001c0001t0001g0078 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1115-2953dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chrX | 17059475 | |||||
| chrX:17059871
|
G | GT | 1 | a0001c0001t0001g0078 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1115-2565dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chrX | 17059871 | |||||
| chrX:17059920
|
A | AAGTCTCC others(19): Show |
50 | a0001c0001t0001g0002a0001c0001t0001g0028a0001c0001t0001g0078others(47): Show | 50 | HG00438.hp2 HG00621.hp1 HG01069.hp1 others(47): Show |
intron_variant | MODIFIER | c.1115-2466_1115-244 others(30): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chrX | 17059920 | |||||
| chrX:17059972
|
G | GAGTCTCC others(19): Show |
95 | a0001c0001t0001g0001a0001c0001t0001g0018a0001c0001t0001g0023others(92): Show | 95 | HG00280.hp1 HG00438.hp1 HG00609.hp1 others(92): Show |
intron_variant | MODIFIER | c.1115-2444_1115-241 others(30): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chrX | 17059972 | |||||
| chrX:17060028
|
G | A | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1115-2410G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | chrX | 17060028 | ||||||
| chrX:17060077
|
G | A | 1 | a0001c0001t0001g0158 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.1115-2361G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | chrX | 17060077 | ||||||
| chrX:17060332
|
TA | T | 1 | a0001c0001t0001g0042 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.1115-2099delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chrX | 17060332 | |||||
| chrX:17060446
|
T | TTC | 1 | a0001c0001t0002g0015 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.1115-1992_1115-199 others(6): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | chrX | 17060446 | ||||||
| chrX:17060447
|
C | A | 1 | a0001c0001t0002g0015 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.1115-1991C>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | chrX | 17060447 | ||||||
| chrX:17060487
|
A | G | 1 | a0001c0001t0011g0124 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.1115-1951A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | chrX | 17060487 | ||||||
| chrX:17060733
|
G | T | 9 | a0001c0001t0001g0002a0001c0001t0001g0058a0001c0001t0001g0076others(6): Show | 9 | HG00438.hp1 HG02071.hp1 NA18612.hp1 others(6): Show |
intron_variant | MODIFIER | c.1115-1705G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | chrX | 17060733 | ||||||
| chrX:17060744
|
CG | C | 1 | a0001c0001t0001g0078 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1115-1690delG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chrX | 17060744 | |||||
| chrX:17060773
|
G | A | 6 | a0001c0001t0001g0062a0001c0001t0001g0070a0001c0001t0001g0071others(3): Show | 6 | NA18959.hp1 NA18994.hp1 NA18995.hp1 others(3): Show |
intron_variant | MODIFIER | c.1115-1665G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | chrX | 17060773 | ||||||
| chrX:17060862
|
A | G | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1115-1576A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | chrX | 17060862 | ||||||
| chrX:17061441
|
A | G | 2 | a0001c0001t0001g0089a0003c0008t0001g0090 | 2 | NA18967.hp1 NA18983.hp1 |
intron_variant | MODIFIER | c.1115-997A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | chrX | 17061441 | ||||||
| chrX:17061551
|
AT | A | 1 | a0001c0001t0001g0042 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.1115-880delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chrX | 17061551 | |||||
| chrX:17061568
|
A | AT | 1 | a0001c0001t0001g0078 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1115-868dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chrX | 17061568 | |||||
| chrX:17061733
|
GC | G | 1 | a0001c0001t0002g0127 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.1115-704delC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | chrX | 17061733 | ||||||
| chrX:17061942
|
AT | A | 1 | a0001c0001t0001g0078 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1115-493delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chrX | 17061942 | |||||
| chrX:17062253
|
A | G | 1 | a0001c0001t0001g0077 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.1115-185A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | chrX | 17062253 | ||||||
| chrX:17062280
|
A | G | 2 | a0001c0001t0006g0132a0001c0001t0006g0133 | 2 | HG02717.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.1115-158A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | chrX | 17062280 | ||||||
| chrX:17062369
|
G | A | 61 | a0001c0001t0001g0023a0001c0001t0001g0031a0001c0001t0001g0056others(58): Show | 61 | HG00438.hp2 HG00621.hp1 HG01069.hp1 others(58): Show |
intron_variant | MODIFIER | c.1115-69G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | chrX | 17062369 | ||||||
| chrX:17062593
|
T | C | 4 | a0001c0001t0001g0082a0001c0001t0001g0083a0001c0001t0001g0087others(1): Show | 4 | HG02055.hp1 HG02965.hp1 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.1209+61T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 9/17 | chrX | 17062593 | ||||||
| chrX:17062692
|
C | T | 1 | a0001c0001t0001g0081 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.1209+160C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 9/17 | chrX | 17062692 | ||||||
| chrX:17062892
|
C | G | 155 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(152): Show | 155 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(152): Show |
intron_variant | MODIFIER | c.1209+360C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 9/17 | chrX | 17062892 | ||||||
| chrX:17062900
|
A | G | 1 | a0001c0001t0003g0004 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1209+368A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 9/17 | chrX | 17062900 | ||||||
| chrX:17062966
|
A | T | 89 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(86): Show | 89 | HG00280.hp1 HG00438.hp1 HG00609.hp1 others(86): Show |
intron_variant | MODIFIER | c.1209+434A>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 9/17 | chrX | 17062966 | ||||||
| chrX:17063235
|
CT | C | 1 | a0001c0001t0002g0015 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.1209+705delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chrX | 17063235 | |||||
| chrX:17063247
|
A | G | 2 | a0001c0001t0015g0019a0001c0001t0016g0020 | 2 | HG01106.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.1209+715A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 9/17 | chrX | 17063247 | ||||||
| chrX:17063293
|
TAGTC | T | 2 | a0001c0001t0001g0096a0001c0001t0001g0107 | 2 | HG01071.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.1209+764_1209+767d others(6): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chrX | 17063293 | |||||
| chrX:17063459
|
C | A | 1 | a0001c0001t0010g0140 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1209+927C>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 9/17 | chrX | 17063459 | ||||||
| chrX:17063506
|
C | T | 1 | a0001c0010t0001g0027 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1209+974C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 9/17 | chrX | 17063506 | ||||||
| chrX:17063586
|
TG | T | 1 | a0001c0001t0002g0015 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.1209+1057delG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chrX | 17063586 | |||||
| chrX:17063657
|
AT | A | 1 | a0001c0001t0002g0015 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.1209+1135delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chrX | 17063657 | |||||
| chrX:17063679
|
T | A | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1209+1147T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 9/17 | chrX | 17063679 | ||||||
| chrX:17063786
|
T | TA | 1 | a0001c0001t0001g0102 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.1209+1255dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chrX | 17063786 | |||||
| chrX:17063923
|
T | TAC | 5 | a0001c0001t0003g0004a0001c0001t0010g0139a0001c0001t0010g0140others(2): Show | 5 | HG01106.hp1 HG02109.hp2 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.1209+1419_1209+142 others(6): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chrX | 17063923 | |||||
| chrX:17063923
|
T | TACAC | 83 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(80): Show | 83 | HG00280.hp1 HG00438.hp1 HG00609.hp1 others(80): Show |
intron_variant | MODIFIER | c.1209+1417_1209+142 others(8): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chrX | 17063923 | |||||
| chrX:17063923
|
T | TACACAC | 1 | a0001c0001t0001g0078 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1209+1415_1209+142 others(10): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chrX | 17063923 | |||||
| chrX:17063923
|
T | TACACACA others(3): Show |
1 | a0001c0001t0005g0138 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.1209+1411_1209+142 others(14): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chrX | 17063923 | |||||
| chrX:17063923
|
TAC | T | 56 | a0001c0001t0001g0023a0001c0001t0001g0056a0001c0001t0001g0068others(53): Show | 56 | HG00438.hp2 HG00621.hp1 HG01069.hp1 others(53): Show |
intron_variant | MODIFIER | c.1209+1419_1209+142 others(6): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chrX | 17063923 | |||||
| chrX:17064102
|
C | CT | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1209+1584dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chrX | 17064102 | |||||
| chrX:17064102
|
CT | C | 147 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(144): Show | 147 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(144): Show |
intron_variant | MODIFIER | c.1209+1584delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chrX | 17064102 | |||||
| chrX:17064102
|
CTT | C | 1 | a0001c0001t0002g0015 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.1209+1583_1209+158 others(6): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chrX | 17064102 | |||||
| chrX:17064166
|
C | G | 1 | a0001c0001t0019g0101 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.1209+1634C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 9/17 | chrX | 17064166 | ||||||
| chrX:17064467
|
C | G | 155 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(152): Show | 155 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(152): Show |
intron_variant | MODIFIER | c.1209+1935C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 9/17 | chrX | 17064467 | ||||||
| chrX:17064650
|
C | CCA | 1 | a0001c0001t0002g0015 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.1209+2119_1209+212 others(6): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chrX | 17064650 | |||||
| chrX:17064971
|
T | C | 1 | a0001c0001t0003g0007 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.1209+2439T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 9/17 | chrX | 17064971 | ||||||
| chrX:17065776
|
G | A | 1 | a0001c0001t0001g0145 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1210-2626G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 9/17 | chrX | 17065776 | ||||||
| chrX:17065884
|
C | T | 61 | a0001c0001t0001g0023a0001c0001t0001g0031a0001c0001t0001g0056others(58): Show | 61 | HG00438.hp2 HG00621.hp1 HG01069.hp1 others(58): Show |
intron_variant | MODIFIER | c.1210-2518C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 9/17 | chrX | 17065884 | ||||||
| chrX:17065890
|
T | C | 1 | a0001c0001t0006g0132 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1210-2512T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 9/17 | chrX | 17065890 | ||||||
| chrX:17065978
|
A | AT | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1210-2417dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chrX | 17065978 | |||||
| chrX:17066030
|
G | GT | 1 | a0004c0004t0003g0014 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.1210-2365dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chrX | 17066030 | |||||
| chrX:17066604
|
C | T | 61 | a0001c0001t0001g0023a0001c0001t0001g0031a0001c0001t0001g0056others(58): Show | 61 | HG00438.hp2 HG00621.hp1 HG01069.hp1 others(58): Show |
intron_variant | MODIFIER | c.1210-1798C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 9/17 | chrX | 17066604 | ||||||
| chrX:17066731
|
G | C | 1 | a0001c0001t0005g0048 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1210-1671G>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 9/17 | chrX | 17066731 | ||||||
| chrX:17067171
|
A | G | 2 | a0001c0001t0001g0054a0001c0001t0001g0065 | 2 | HG00673.hp1 HG02074.hp1 |
intron_variant | MODIFIER | c.1210-1231A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 9/17 | chrX | 17067171 | ||||||
| chrX:17067270
|
G | C | 1 | a0001c0001t0005g0050 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.1210-1132G>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 9/17 | chrX | 17067270 | ||||||
| chrX:17067317
|
ATATT | A | 1 | a0001c0001t0001g0056 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1210-1081_1210-107 others(8): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chrX | 17067317 | |||||
| chrX:17067588
|
C | G | 1 | a0001c0001t0018g0057 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1210-814C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 9/17 | chrX | 17067588 | ||||||
| chrX:17067612
|
C | T | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1210-790C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 9/17 | chrX | 17067612 | ||||||
| chrX:17067872
|
T | C | 1 | a0001c0010t0001g0027 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1210-530T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 9/17 | chrX | 17067872 | ||||||
| chrX:17068076
|
G | A | 1 | a0001c0001t0013g0030 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.1210-326G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 9/17 | chrX | 17068076 | ||||||
| chrX:17068206
|
C | CG | 1 | a0001c0001t0002g0128 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.1210-193dupG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chrX | 17068206 | |||||
| chrX:17068313
|
C | CA | 1 | a0001c0001t0001g0142 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.1210-77dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chrX | 17068313 | |||||
| chrX:17068325
|
A | AAT | 1 | a0001c0001t0002g0128 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.1210-77_1210-76ins others(2): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 9/17 | chrX | 17068325 | ||||||
| chrX:17068335
|
A | G | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1210-67A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 9/17 | chrX | 17068335 | ||||||
| chrX:17068768
|
G | GT | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1279+297_1279+298i others(3): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 10/17 | chrX | 17068768 | ||||||
| chrX:17068772
|
G | A | 61 | a0001c0001t0001g0023a0001c0001t0001g0031a0001c0001t0001g0056others(58): Show | 61 | HG00438.hp2 HG00621.hp1 HG01069.hp1 others(58): Show |
intron_variant | MODIFIER | c.1279+301G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 10/17 | chrX | 17068772 | ||||||
| chrX:17068784
|
T | C | 1 | a0001c0001t0028g0135 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.1279+313T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 10/17 | chrX | 17068784 | ||||||
| chrX:17069212
|
T | G | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1280-728T>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 10/17 | chrX | 17069212 | ||||||
| chrX:17069887
|
A | AT | 1 | a0001c0001t0001g0166 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.1280-45dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chrX | 17069887 | |||||
| chrX:17071059
|
A | C | 1 | a0001c0001t0002g0097 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.1333+1066A>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 11/17 | chrX | 17071059 | ||||||
| chrX:17071195
|
G | A | 1 | a0001c0001t0007g0109 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.1333+1202G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 11/17 | chrX | 17071195 | ||||||
| chrX:17071363
|
CT | C | 147 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(144): Show | 147 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(144): Show |
intron_variant | MODIFIER | c.1333+1386delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chrX | 17071363 | |||||
| chrX:17071363
|
CTT | C | 7 | a0001c0001t0001g0152a0001c0001t0002g0164a0001c0001t0009g0136others(4): Show | 7 | HG02257.hp2 HG02258.hp1 HG02922.hp2 others(4): Show |
intron_variant | MODIFIER | c.1333+1385_1333+138 others(6): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chrX | 17071363 | |||||
| chrX:17071433
|
A | G | 1 | a0001c0001t0001g0023 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1333+1440A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 11/17 | chrX | 17071433 | ||||||
| chrX:17071445
|
C | A | 21 | a0001c0001t0001g0018a0001c0001t0001g0142a0001c0001t0001g0143others(18): Show | 21 | HG01928.hp1 HG01952.hp1 HG02015.hp1 others(18): Show |
intron_variant | MODIFIER | c.1333+1452C>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 11/17 | chrX | 17071445 | ||||||
| chrX:17071765
|
C | A | 1 | a0001c0001t0005g0033 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.1333+1772C>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 11/17 | chrX | 17071765 | ||||||
| chrX:17071976
|
G | A | 155 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(152): Show | 155 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(152): Show |
intron_variant | MODIFIER | c.1333+1983G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 11/17 | chrX | 17071976 | ||||||
| chrX:17072132
|
C | G | 151 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(148): Show | 151 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(148): Show |
intron_variant | MODIFIER | c.1334-1982C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 11/17 | chrX | 17072132 | ||||||
| chrX:17072478
|
G | A | 1 | a0001c0001t0002g0113 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.1334-1636G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 11/17 | chrX | 17072478 | ||||||
| chrX:17072496
|
T | C | 155 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(152): Show | 155 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(152): Show |
intron_variant | MODIFIER | c.1334-1618T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 11/17 | chrX | 17072496 | ||||||
| chrX:17072522
|
A | T | 2 | a0001c0001t0001g0165a0001c0001t0001g0166 | 2 | HG00438.hp1 NA18974.hp1 |
intron_variant | MODIFIER | c.1334-1592A>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 11/17 | chrX | 17072522 | ||||||
| chrX:17072705
|
C | T | 2 | a0001c0001t0001g0002a0001c0001t0001g0058 | 2 | NA18612.hp1 NA18971.hp1 |
intron_variant | MODIFIER | c.1334-1409C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 11/17 | chrX | 17072705 | ||||||
| chrX:17072954
|
T | C | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1334-1160T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 11/17 | chrX | 17072954 | ||||||
| chrX:17073036
|
GTTTGC | G | 37 | a0001c0001t0002g0003a0001c0001t0002g0015a0001c0001t0002g0016others(34): Show | 37 | HG00438.hp2 HG00621.hp1 HG01074.hp1 others(34): Show |
intron_variant | MODIFIER | c.1334-1073_1334-106 others(9): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chrX | 17073036 | |||||
| chrX:17073447
|
C | T | 1 | a0001c0001t0027g0115 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1334-667C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 11/17 | chrX | 17073447 | ||||||
| chrX:17073672
|
A | AT | 2 | a0001c0001t0002g0128a0003c0008t0001g0090 | 2 | HG02738.hp1 NA18967.hp1 |
intron_variant | MODIFIER | c.1334-429dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chrX | 17073672 | |||||
| chrX:17073672
|
AT | A | 3 | a0001c0001t0001g0062a0001c0001t0002g0119a0001c0001t0023g0026 | 3 | HG01256.hp1 NA18959.hp1 NA18960.hp1 |
intron_variant | MODIFIER | c.1334-429delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chrX | 17073672 | |||||
| chrX:17073685
|
T | A | 1 | a0001c0001t0004g0035 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.1334-429T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 11/17 | chrX | 17073685 | ||||||
| chrX:17073686
|
A | T | 1 | a0001c0001t0001g0081 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.1334-428A>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 11/17 | chrX | 17073686 | ||||||
| chrX:17073810
|
A | AC | 1 | a0001c0001t0001g0162 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.1334-299dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chrX | 17073810 | |||||
| chrX:17073887
|
A | G | 1 | a0001c0001t0001g0031 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.1334-227A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 11/17 | chrX | 17073887 | ||||||
| chrX:17074029
|
G | T | 151 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(148): Show | 151 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(148): Show |
intron_variant | MODIFIER | c.1334-85G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 11/17 | chrX | 17074029 | ||||||
| chrX:17074343
|
C | T | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1379+184C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 12/17 | chrX | 17074343 | ||||||
| chrX:17074485
|
T | G | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1379+326T>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 12/17 | chrX | 17074485 | ||||||
| chrX:17074653
|
G | C | 155 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(152): Show | 155 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(152): Show |
intron_variant | MODIFIER | c.1379+494G>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 12/17 | chrX | 17074653 | ||||||
| chrX:17074670
|
T | A | 1 | a0001c0001t0026g0108 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.1379+511T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 12/17 | chrX | 17074670 | ||||||
| chrX:17074856
|
G | A | 88 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(85): Show | 88 | HG00280.hp1 HG00438.hp1 HG00609.hp1 others(85): Show |
intron_variant | MODIFIER | c.1379+697G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 12/17 | chrX | 17074856 | ||||||
| chrX:17075029
|
G | C | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1379+870G>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 12/17 | chrX | 17075029 | ||||||
| chrX:17075061
|
G | T | 6 | a0001c0001t0001g0031a0001c0001t0001g0081a0001c0001t0001g0082others(3): Show | 6 | HG02055.hp1 HG02965.hp1 HG03471.hp1 others(3): Show |
intron_variant | MODIFIER | c.1379+902G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 12/17 | chrX | 17075061 | ||||||
| chrX:17076212
|
C | G | 88 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(85): Show | 88 | HG00280.hp1 HG00438.hp1 HG00609.hp1 others(85): Show |
intron_variant | MODIFIER | c.1380-1059C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 12/17 | chrX | 17076212 | ||||||
| chrX:17076513
|
C | G | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1380-758C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 12/17 | chrX | 17076513 | ||||||
| chrX:17076535
|
TA | T | 1 | a0005c0005t0024g0148 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1380-731delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chrX | 17076535 | |||||
| chrX:17076604
|
CA | C | 1 | a0005c0005t0024g0148 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1380-665delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chrX | 17076604 | |||||
| chrX:17076610
|
AT | A | 1 | a0005c0005t0024g0148 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1380-658delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chrX | 17076610 | |||||
| chrX:17076660
|
G | T | 2 | a0001c0001t0001g0093a0001c0001t0001g0103 | 2 | HG01243.hp1 HG02486.hp1 |
intron_variant | MODIFIER | c.1380-611G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 12/17 | chrX | 17076660 | ||||||
| chrX:17076800
|
TC | T | 1 | a0005c0005t0024g0148 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1380-467delC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chrX | 17076800 | |||||
| chrX:17076806
|
GA | G | 1 | a0005c0005t0024g0148 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1380-463delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chrX | 17076806 | |||||
| chrX:17076883
|
GA | G | 1 | a0005c0005t0024g0148 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1380-384delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chrX | 17076883 | |||||
| chrX:17076916
|
AC | A | 1 | a0005c0005t0024g0148 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1380-353delC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chrX | 17076916 | |||||
| chrX:17076936
|
G | C | 1 | a0001c0001t0001g0041 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.1380-335G>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 12/17 | chrX | 17076936 | ||||||
| chrX:17077415
|
G | GC | 1 | a0005c0005t0024g0148 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1516+12dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17077415 | |||||
| chrX:17077670
|
C | T | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1516+263C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17077670 | ||||||
| chrX:17077745
|
C | G | 61 | a0001c0001t0001g0023a0001c0001t0001g0031a0001c0001t0001g0056others(58): Show | 61 | HG00438.hp2 HG00621.hp1 HG01069.hp1 others(58): Show |
intron_variant | MODIFIER | c.1516+338C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17077745 | ||||||
| chrX:17078148
|
C | G | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1516+741C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17078148 | ||||||
| chrX:17078611
|
C | G | 2 | a0001c0001t0015g0019a0001c0001t0016g0020 | 2 | HG01106.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.1516+1204C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17078611 | ||||||
| chrX:17078889
|
A | G | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1516+1482A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17078889 | ||||||
| chrX:17078911
|
G | A | 1 | a0001c0001t0001g0056 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1516+1504G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17078911 | ||||||
| chrX:17078932
|
A | G | 1 | a0001c0001t0001g0061 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.1516+1525A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17078932 | ||||||
| chrX:17079624
|
A | G | 1 | a0001c0001t0001g0082 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.1516+2217A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17079624 | ||||||
| chrX:17079655
|
C | G | 1 | a0001c0001t0001g0031 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.1516+2248C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17079655 | ||||||
| chrX:17079907
|
G | A | 2 | a0001c0001t0001g0042a0001c0001t0001g0043 | 2 | HG01515.hp1 HG01517.hp1 |
intron_variant | MODIFIER | c.1516+2500G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17079907 | ||||||
| chrX:17080136
|
C | A | 2 | a0001c0001t0001g0072a0001c0001t0001g0073 | 2 | HG03139.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.1516+2729C>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17080136 | ||||||
| chrX:17080331
|
C | T | 149 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(146): Show | 149 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(146): Show |
intron_variant | MODIFIER | c.1516+2924C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17080331 | ||||||
| chrX:17080888
|
C | T | 2 | a0001c0001t0003g0012a0001c0001t0017g0013 | 2 | NA19057.hp1 NA19083.hp1 |
intron_variant | MODIFIER | c.1516+3481C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17080888 | ||||||
| chrX:17081098
|
A | C | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1516+3691A>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17081098 | ||||||
| chrX:17081163
|
T | A | 1 | a0001c0001t0002g0126 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.1516+3756T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17081163 | ||||||
| chrX:17081500
|
TG | T | 1 | a0001c0001t0001g0166 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.1516+4097delG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17081500 | |||||
| chrX:17082420
|
T | C | 1 | a0001c0001t0005g0036 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.1516+5013T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17082420 | ||||||
| chrX:17082654
|
A | G | 4 | a0001c0001t0001g0093a0001c0001t0001g0096a0001c0001t0001g0103others(1): Show | 4 | HG01071.hp2 HG01243.hp1 HG02486.hp1 others(1): Show |
intron_variant | MODIFIER | c.1516+5247A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17082654 | ||||||
| chrX:17083065
|
A | G | 156 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(153): Show | 156 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(153): Show |
intron_variant | MODIFIER | c.1516+5658A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17083065 | ||||||
| chrX:17083077
|
C | CT | 15 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0068others(12): Show | 15 | HG01069.hp1 HG01071.hp1 HG01358.hp1 others(12): Show |
intron_variant | MODIFIER | c.1516+5693dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17083077 | |||||
| chrX:17083077
|
C | CTT | 3 | a0001c0001t0009g0136a0001c0001t0010g0139a0001c0001t0010g0140 | 3 | HG02258.hp1 HG02922.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.1516+5692_1516+569 others(6): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17083077 | |||||
| chrX:17083077
|
C | CTTT | 2 | a0001c0001t0004g0100a0001c0001t0009g0141 | 2 | HG02145.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.1516+5691_1516+569 others(7): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17083077 | |||||
| chrX:17083077
|
CT | C | 6 | a0001c0001t0002g0017a0001c0001t0002g0127a0001c0001t0015g0019others(3): Show | 6 | HG01106.hp1 HG01255.hp1 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.1516+5693delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17083077 | |||||
| chrX:17083077
|
CTT | C | 1 | a0001c0001t0003g0004 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1516+5692_1516+569 others(6): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17083077 | |||||
| chrX:17083202
|
G | GC | 1 | a0001c0001t0001g0042 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.1516+5797dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17083202 | |||||
| chrX:17083385
|
C | T | 1 | a0001c0001t0006g0134 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.1516+5978C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17083385 | ||||||
| chrX:17083530
|
A | G | 1 | a0001c0001t0001g0064 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.1516+6123A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17083530 | ||||||
| chrX:17083579
|
C | G | 4 | a0001c0001t0001g0062a0001c0001t0001g0070a0001c0001t0001g0071others(1): Show | 4 | NA18959.hp1 NA18994.hp1 NA18995.hp1 others(1): Show |
intron_variant | MODIFIER | c.1516+6172C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17083579 | ||||||
| chrX:17084036
|
T | C | 156 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(153): Show | 156 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(153): Show |
intron_variant | MODIFIER | c.1516+6629T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17084036 | ||||||
| chrX:17084037
|
C | A | 3 | a0001c0001t0005g0048a0001c0001t0005g0051a0006c0006t0005g0032 | 3 | HG00280.hp1 HG01358.hp1 HG03017.hp1 |
intron_variant | MODIFIER | c.1516+6630C>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17084037 | ||||||
| chrX:17084198
|
A | AT | 1 | a0001c0001t0001g0042 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.1516+6793dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17084198 | |||||
| chrX:17084462
|
A | AT | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1516+7059dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17084462 | |||||
| chrX:17084499
|
A | G | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1516+7092A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17084499 | ||||||
| chrX:17084987
|
C | G | 1 | a0001c0001t0005g0050 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.1516+7580C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17084987 | ||||||
| chrX:17085088
|
C | T | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1516+7681C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17085088 | ||||||
| chrX:17085187
|
A | G | 1 | a0001c0001t0001g0023 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1516+7780A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17085187 | ||||||
| chrX:17085340
|
G | GT | 1 | a0001c0001t0001g0042 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.1516+7937dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17085340 | |||||
| chrX:17085368
|
T | TC | 1 | a0001c0001t0001g0042 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.1516+7963dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17085368 | |||||
| chrX:17085519
|
G | GT | 1 | a0001c0001t0001g0042 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.1516+8117dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17085519 | |||||
| chrX:17085553
|
C | CA | 1 | a0001c0001t0001g0042 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.1516+8148dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17085553 | |||||
| chrX:17085583
|
T | A | 2 | a0001c0001t0001g0025a0001c0001t0001g0041 | 2 | HG02132.hp1 NA19063.hp1 |
intron_variant | MODIFIER | c.1516+8176T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17085583 | ||||||
| chrX:17085616
|
T | C | 1 | a0001c0001t0001g0042 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.1516+8209T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17085616 | ||||||
| chrX:17085617
|
C | T | 1 | a0001c0001t0001g0042 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.1516+8210C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17085617 | ||||||
| chrX:17085769
|
A | AC | 1 | a0001c0001t0001g0042 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.1516+8367dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17085769 | |||||
| chrX:17086082
|
TC | T | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1516+8677delC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17086082 | |||||
| chrX:17086127
|
G | A | 1 | a0001c0001t0001g0144 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.1516+8720G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17086127 | ||||||
| chrX:17086379
|
TC | T | 1 | a0001c0001t0001g0042 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.1516+8975delC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17086379 | |||||
| chrX:17086415
|
T | C | 2 | a0001c0001t0001g0042a0001c0001t0001g0043 | 2 | HG01515.hp1 HG01517.hp1 |
intron_variant | MODIFIER | c.1516+9008T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17086415 | ||||||
| chrX:17086439
|
TG | T | 1 | a0001c0001t0001g0042 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.1516+9034delG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17086439 | |||||
| chrX:17086451
|
G | A | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1516+9044G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17086451 | ||||||
| chrX:17086540
|
GTGGAGT | G | 1 | a0001c0001t0001g0165 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.1516+9135_1516+914 others(10): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17086540 | |||||
| chrX:17086556
|
A | G | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1516+9149A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17086556 | ||||||
| chrX:17086637
|
G | A | 2 | a0001c0001t0001g0072a0001c0001t0001g0073 | 2 | HG03139.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.1516+9230G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17086637 | ||||||
| chrX:17086638
|
CA | C | 1 | a0001c0001t0001g0042 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.1516+9235delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17086638 | |||||
| chrX:17087029
|
TG | T | 1 | a0001c0001t0001g0042 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.1516+9624delG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17087029 | |||||
| chrX:17087161
|
A | G | 2 | a0001c0001t0005g0051a0006c0006t0005g0032 | 2 | HG00280.hp1 HG01358.hp1 |
intron_variant | MODIFIER | c.1516+9754A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17087161 | ||||||
| chrX:17087356
|
G | A | 8 | a0001c0001t0001g0056a0001c0001t0001g0068a0001c0001t0001g0072others(5): Show | 8 | HG02572.hp1 HG02922.hp1 HG03098.hp1 others(5): Show |
intron_variant | MODIFIER | c.1516+9949G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17087356 | ||||||
| chrX:17087699
|
C | T | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1516+10292C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17087699 | ||||||
| chrX:17087716
|
C | T | 8 | a0001c0001t0004g0044a0001c0001t0004g0074a0001c0001t0004g0075others(5): Show | 8 | HG01069.hp1 HG01071.hp1 HG02109.hp1 others(5): Show |
intron_variant | MODIFIER | c.1516+10309C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17087716 | ||||||
| chrX:17087924
|
C | CGATA | 17 | a0001c0001t0001g0056a0001c0001t0002g0003a0001c0001t0002g0016others(14): Show | 17 | HG01074.hp1 HG01433.hp1 HG02293.hp2 others(14): Show |
intron_variant | MODIFIER | c.1516+10570_1516+10 others(10): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17087924 | |||||
| chrX:17087924
|
C | CGATAGAT others(1): Show |
6 | a0001c0001t0001g0068a0001c0001t0002g0049a0001c0001t0002g0127others(3): Show | 6 | HG02602.hp1 HG03239.hp2 HG03516.hp2 others(3): Show |
intron_variant | MODIFIER | c.1516+10566_1516+10 others(14): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17087924 | |||||
| chrX:17087924
|
C | CGATAGAT others(5): Show |
5 | a0001c0001t0002g0022a0001c0001t0002g0039a0001c0001t0004g0074others(2): Show | 5 | HG01069.hp1 HG01071.hp1 HG01106.hp1 others(2): Show |
intron_variant | MODIFIER | c.1516+10562_1516+10 others(18): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17087924 | |||||
| chrX:17087924
|
CGATA | C | 19 | a0001c0001t0001g0031a0001c0001t0001g0081a0001c0001t0001g0082others(16): Show | 19 | HG00140.hp1 HG00438.hp2 HG00621.hp1 others(16): Show |
intron_variant | MODIFIER | c.1516+10570_1516+10 others(10): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17087924 | |||||
| chrX:17087924
|
CGATAGAT others(1): Show |
C | 5 | a0001c0001t0001g0037a0001c0001t0001g0153a0001c0001t0001g0165others(2): Show | 5 | HG00438.hp1 HG02886.hp2 HG04199.hp1 others(2): Show |
intron_variant | MODIFIER | c.1516+10566_1516+10 others(14): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17087924 | |||||
| chrX:17087924
|
CGATAGAT others(5): Show |
C | 11 | a0001c0001t0001g0064a0001c0001t0001g0066a0001c0001t0001g0076others(8): Show | 11 | HG00735.hp2 HG01934.hp1 HG02015.hp1 others(8): Show |
intron_variant | MODIFIER | c.1516+10562_1516+10 others(18): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17087924 | |||||
| chrX:17087924
|
CGATAGAT others(9): Show |
C | 66 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(63): Show | 66 | HG00609.hp1 HG00642.hp1 HG00673.hp1 others(63): Show |
intron_variant | MODIFIER | c.1516+10558_1516+10 others(22): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17087924 | |||||
| chrX:17088030
|
T | G | 1 | a0001c0001t0002g0039 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.1516+10623T>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17088030 | ||||||
| chrX:17088174
|
G | A | 1 | a0001c0001t0005g0029 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.1516+10767G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17088174 | ||||||
| chrX:17088588
|
C | CT | 2 | a0001c0001t0001g0078a0001c0001t0015g0019 | 2 | HG01106.hp1 HG01109.hp1 |
intron_variant | MODIFIER | c.1516+11199dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17088588 | |||||
| chrX:17088588
|
CT | C | 12 | a0001c0001t0001g0058a0001c0001t0001g0081a0001c0001t0001g0152others(9): Show | 12 | HG01167.hp1 HG02109.hp1 HG02257.hp2 others(9): Show |
intron_variant | MODIFIER | c.1516+11199delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17088588 | |||||
| chrX:17088675
|
G | GCCTCC | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1516+11269_1516+11 others(11): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17088675 | |||||
| chrX:17088773
|
C | T | 1 | a0002c0009t0001g0063 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.1516+11366C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17088773 | ||||||
| chrX:17089606
|
T | C | 156 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(153): Show | 156 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(153): Show |
intron_variant | MODIFIER | c.1516+12199T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17089606 | ||||||
| chrX:17090071
|
T | G | 2 | a0001c0001t0009g0136a0001c0001t0009g0141 | 2 | HG02922.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.1516+12664T>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17090071 | ||||||
| chrX:17090601
|
T | A | 1 | a0001c0001t0013g0030 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.1517-13117T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17090601 | ||||||
| chrX:17090867
|
G | A | 156 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(153): Show | 156 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(153): Show |
intron_variant | MODIFIER | c.1517-12851G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17090867 | ||||||
| chrX:17090936
|
T | C | 1 | a0001c0001t0003g0004 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1517-12782T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17090936 | ||||||
| chrX:17091296
|
C | T | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1517-12422C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17091296 | ||||||
| chrX:17091756
|
C | CTG | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1517-11960_1517-11 others(8): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17091756 | |||||
| chrX:17092012
|
G | T | 1 | a0001c0001t0005g0050 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.1517-11706G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17092012 | ||||||
| chrX:17092059
|
G | C | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1517-11659G>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17092059 | ||||||
| chrX:17092266
|
A | G | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1517-11452A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17092266 | ||||||
| chrX:17092300
|
A | G | 1 | a0001c0001t0001g0088 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.1517-11418A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17092300 | ||||||
| chrX:17092559
|
C | A | 1 | a0001c0001t0004g0114 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1517-11159C>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17092559 | ||||||
| chrX:17093166
|
C | CTA | 3 | a0001c0001t0003g0005a0001c0001t0003g0007a0001c0001t0003g0011 | 3 | HG00140.hp1 HG01167.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.1517-10519_1517-10 others(8): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17093166 | |||||
| chrX:17093166
|
C | CTATATAT others(3): Show |
2 | a0001c0001t0003g0004a0001c0001t0003g0009 | 2 | HG02109.hp2 HG03669.hp1 |
intron_variant | MODIFIER | c.1517-10527_1517-10 others(16): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17093166 | |||||
| chrX:17093166
|
C | CTATATAT others(5): Show |
1 | a0001c0001t0003g0012 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.1517-10529_1517-10 others(18): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17093166 | |||||
| chrX:17093166
|
C | CTATATAT others(11): Show |
3 | a0001c0001t0003g0008a0001c0001t0009g0136a0001c0001t0009g0141 | 3 | HG02257.hp1 HG02922.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.1517-10535_1517-10 others(24): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17093166 | |||||
| chrX:17093166
|
C | CTATATAT others(15): Show |
1 | a0001c0001t0003g0010 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.1517-10539_1517-10 others(28): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17093166 | |||||
| chrX:17093166
|
C | CTATATAT others(17): Show |
2 | a0001c0001t0010g0139a0001c0001t0016g0020 | 2 | HG02723.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.1517-10541_1517-10 others(30): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17093166 | |||||
| chrX:17093166
|
C | CTATATAT others(21): Show |
2 | a0001c0001t0010g0140a0001c0001t0015g0019 | 2 | HG01106.hp1 HG02258.hp1 |
intron_variant | MODIFIER | c.1517-10545_1517-10 others(34): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17093166 | |||||
| chrX:17093166
|
C | CTATATAT others(23): Show |
1 | a0004c0004t0003g0014 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.1517-10547_1517-10 others(36): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17093166 | |||||
| chrX:17093191
|
TATATATA others(2): Show |
T | 49 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0025others(46): Show | 49 | HG00438.hp1 HG00609.hp1 HG00642.hp1 others(46): Show |
intron_variant | MODIFIER | c.1517-10524_1517-10 others(15): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17093191 | |||||
| chrX:17093193
|
TATATATA | T | 25 | a0001c0001t0001g0018a0001c0001t0001g0078a0001c0001t0001g0096others(22): Show | 25 | HG00280.hp1 HG00735.hp1 HG01071.hp2 others(22): Show |
intron_variant | MODIFIER | c.1517-10522_1517-10 others(13): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17093193 | |||||
| chrX:17093195
|
TATATA | T | 12 | a0001c0001t0001g0037a0001c0001t0001g0144a0001c0001t0001g0152others(9): Show | 12 | HG01261.hp1 HG01928.hp1 HG01952.hp1 others(9): Show |
intron_variant | MODIFIER | c.1517-10520_1517-10 others(11): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17093195 | |||||
| chrX:17093197
|
TATA | T | 2 | a0001c0001t0001g0150a0001c0001t0002g0039 | 2 | NA18747.hp1 NA18977.hp1 |
intron_variant | MODIFIER | c.1517-10518_1517-10 others(9): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17093197 | |||||
| chrX:17093200
|
A | ATATATAT others(2): Show |
1 | a0001c0001t0004g0092 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1517-10518_1517-10 others(15): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17093200 | ||||||
| chrX:17093200
|
A | ATATATAT others(4): Show |
4 | a0001c0001t0002g0123a0001c0001t0002g0137a0001c0001t0002g0164others(1): Show | 4 | HG02717.hp1 HG03491.hp2 HG03492.hp1 others(1): Show |
intron_variant | MODIFIER | c.1517-10518_1517-10 others(17): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17093200 | ||||||
| chrX:17093200
|
A | ATATATAT others(6): Show |
2 | a0001c0001t0002g0130a0001c0001t0004g0100 | 2 | HG02145.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.1517-10518_1517-10 others(19): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17093200 | ||||||
| chrX:17093200
|
A | ATATATAT others(8): Show |
6 | a0001c0001t0001g0056a0001c0001t0001g0083a0001c0001t0001g0091others(3): Show | 6 | HG02055.hp1 HG02572.hp1 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.1517-10518_1517-10 others(21): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17093200 | ||||||
| chrX:17093200
|
A | ATATATAT others(10): Show |
11 | a0001c0001t0002g0015a0001c0001t0002g0017a0001c0001t0002g0022others(8): Show | 11 | HG02040.hp1 HG02109.hp1 HG02293.hp1 others(8): Show |
intron_variant | MODIFIER | c.1517-10518_1517-10 others(23): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17093200 | ||||||
| chrX:17093200
|
A | ATATATAT others(12): Show |
16 | a0001c0001t0001g0031a0001c0001t0001g0072a0001c0001t0001g0082others(13): Show | 16 | HG00438.hp2 HG01069.hp1 HG01071.hp1 others(13): Show |
intron_variant | MODIFIER | c.1517-10518_1517-10 others(25): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17093200 | ||||||
| chrX:17093200
|
A | ATATATAT others(14): Show |
9 | a0001c0001t0001g0023a0001c0001t0001g0081a0001c0001t0001g0087others(6): Show | 9 | HG02602.hp1 HG02735.hp1 HG02886.hp1 others(6): Show |
intron_variant | MODIFIER | c.1517-10518_1517-10 others(27): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17093200 | ||||||
| chrX:17093200
|
A | ATATATAT others(16): Show |
5 | a0001c0001t0001g0068a0001c0001t0001g0073a0001c0001t0002g0110others(2): Show | 5 | HG00621.hp1 HG03139.hp1 HG03516.hp2 others(2): Show |
intron_variant | MODIFIER | c.1517-10518_1517-10 others(29): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17093200 | ||||||
| chrX:17093200
|
A | ATATATAT others(18): Show |
6 | a0001c0001t0002g0049a0001c0001t0002g0106a0001c0001t0002g0111others(3): Show | 6 | HG01074.hp1 HG03209.hp1 HG03490.hp1 others(3): Show |
intron_variant | MODIFIER | c.1517-10518_1517-10 others(31): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17093200 | ||||||
| chrX:17093200
|
A | ATATATAT others(20): Show |
1 | a0001c0001t0002g0117 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.1517-10518_1517-10 others(33): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17093200 | ||||||
| chrX:17093200
|
A | ATATATAT others(26): Show |
1 | a0001c0001t0011g0124 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.1517-10518_1517-10 others(39): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17093200 | ||||||
| chrX:17093202
|
T | A | 149 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(146): Show | 149 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(146): Show |
intron_variant | MODIFIER | c.1517-10516T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17093202 | ||||||
| chrX:17093202
|
T | TA | 1 | a0001c0001t0002g0121 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.1517-10516_1517-10 others(7): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17093202 | ||||||
| chrX:17093669
|
T | G | 156 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(153): Show | 156 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(153): Show |
intron_variant | MODIFIER | c.1517-10049T>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17093669 | ||||||
| chrX:17093779
|
C | CT | 85 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(82): Show | 85 | HG00280.hp1 HG00438.hp1 HG00609.hp1 others(82): Show |
intron_variant | MODIFIER | c.1517-9928dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17093779 | |||||
| chrX:17094039
|
C | T | 1 | a0001c0001t0005g0036 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.1517-9679C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17094039 | ||||||
| chrX:17094192
|
A | G | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1517-9526A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17094192 | ||||||
| chrX:17094641
|
T | C | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1517-9077T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17094641 | ||||||
| chrX:17094852
|
C | CT | 6 | a0001c0001t0001g0031a0001c0001t0001g0081a0001c0001t0001g0082others(3): Show | 6 | HG02055.hp1 HG02965.hp1 HG03471.hp1 others(3): Show |
intron_variant | MODIFIER | c.1517-8857dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17094852 | |||||
| chrX:17095402
|
C | T | 25 | a0001c0001t0001g0018a0001c0001t0001g0093a0001c0001t0001g0096others(22): Show | 25 | HG01071.hp2 HG01243.hp1 HG01928.hp1 others(22): Show |
intron_variant | MODIFIER | c.1517-8316C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17095402 | ||||||
| chrX:17095524
|
CT | C | 154 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(151): Show | 154 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(151): Show |
intron_variant | MODIFIER | c.1517-8179delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17095524 | |||||
| chrX:17095524
|
CTT | C | 2 | a0001c0001t0001g0062a0001c0001t0002g0015 | 2 | NA18959.hp1 NA19076.hp1 |
intron_variant | MODIFIER | c.1517-8180_1517-817 others(6): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17095524 | |||||
| chrX:17095653
|
A | G | 2 | a0001c0001t0015g0019a0001c0001t0016g0020 | 2 | HG01106.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.1517-8065A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17095653 | ||||||
| chrX:17095828
|
T | C | 9 | a0001c0001t0001g0037a0001c0001t0005g0029a0001c0001t0005g0033others(6): Show | 9 | HG00280.hp1 HG00735.hp1 HG01261.hp1 others(6): Show |
intron_variant | MODIFIER | c.1517-7890T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17095828 | ||||||
| chrX:17095887
|
T | G | 156 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(153): Show | 156 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(153): Show |
intron_variant | MODIFIER | c.1517-7831T>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17095887 | ||||||
| chrX:17096085
|
G | T | 1 | a0001c0001t0002g0049 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.1517-7633G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17096085 | ||||||
| chrX:17096142
|
AGTGGTCC others(7): Show |
A | 1 | a0001c0001t0005g0048 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1517-7575_1517-756 others(18): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17096142 | ||||||
| chrX:17096159
|
A | G | 1 | a0001c0001t0005g0048 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1517-7559A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17096159 | ||||||
| chrX:17096161
|
T | G | 1 | a0001c0001t0005g0048 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1517-7557T>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17096161 | ||||||
| chrX:17096466
|
C | T | 2 | a0001c0001t0002g0097a0001c0001t0002g0116 | 2 | HG01433.hp1 HG02300.hp2 |
intron_variant | MODIFIER | c.1517-7252C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17096466 | ||||||
| chrX:17096503
|
C | CA | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1517-7208dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17096503 | |||||
| chrX:17096548
|
T | A | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1517-7170T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17096548 | ||||||
| chrX:17096659
|
C | CA | 1 | a0004c0004t0003g0014 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.1517-7036dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17096659 | |||||
| chrX:17096659
|
CA | C | 2 | a0001c0001t0003g0011a0001c0001t0003g0012 | 2 | HG01167.hp1 NA19057.hp1 |
intron_variant | MODIFIER | c.1517-7036delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17096659 | |||||
| chrX:17096659
|
CAAAA | C | 3 | a0001c0001t0009g0141a0001c0001t0010g0139a0001c0001t0010g0140 | 3 | HG02258.hp1 HG03516.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.1517-7039_1517-703 others(8): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17096659 | |||||
| chrX:17096659
|
CAAAAA | C | 1 | a0001c0001t0009g0136 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1517-7040_1517-703 others(9): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17096659 | |||||
| chrX:17096678
|
AAAAAG | A | 2 | a0001c0001t0002g0122a0001c0001t0007g0118 | 2 | NA19058.hp1 NA19070.hp1 |
intron_variant | MODIFIER | c.1517-7028_1517-702 others(9): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17096678 | |||||
| chrX:17096679
|
AAAAG | A | 133 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(130): Show | 133 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(130): Show |
intron_variant | MODIFIER | c.1517-7035_1517-703 others(8): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17096679 | |||||
| chrX:17096680
|
AAAG | A | 16 | a0001c0001t0001g0023a0001c0001t0001g0042a0001c0001t0001g0071others(13): Show | 16 | HG00280.hp1 HG01109.hp1 HG01515.hp1 others(13): Show |
intron_variant | MODIFIER | c.1517-7035_1517-703 others(7): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17096680 | |||||
| chrX:17096681
|
AAG | A | 1 | a0001c0001t0015g0019 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.1517-7035_1517-703 others(6): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17096681 | |||||
| chrX:17097254
|
A | G | 1 | a0001c0001t0003g0010 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.1517-6464A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17097254 | ||||||
| chrX:17097480
|
T | C | 2 | a0001c0001t0015g0019a0001c0001t0016g0020 | 2 | HG01106.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.1517-6238T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17097480 | ||||||
| chrX:17097870
|
A | G | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1517-5848A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17097870 | ||||||
| chrX:17098120
|
A | G | 1 | a0001c0001t0002g0129 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.1517-5598A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17098120 | ||||||
| chrX:17098558
|
G | A | 2 | a0001c0001t0001g0054a0001c0001t0001g0065 | 2 | HG00673.hp1 HG02074.hp1 |
intron_variant | MODIFIER | c.1517-5160G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17098558 | ||||||
| chrX:17098610
|
T | TTG | 146 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(143): Show | 146 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(143): Show |
intron_variant | MODIFIER | c.1517-5086_1517-508 others(6): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17098610 | |||||
| chrX:17098610
|
T | TTGTG | 5 | a0001c0001t0001g0080a0001c0001t0002g0015a0001c0001t0002g0016others(2): Show | 5 | HG03098.hp1 NA18955.hp1 NA18962.hp1 others(2): Show |
intron_variant | MODIFIER | c.1517-5088_1517-508 others(8): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17098610 | |||||
| chrX:17098610
|
TTGTGTGT others(3): Show |
T | 1 | a0001c0001t0001g0147 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.1517-5094_1517-508 others(14): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17098610 | |||||
| chrX:17099011
|
A | G | 1 | a0001c0001t0001g0162 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.1517-4707A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17099011 | ||||||
| chrX:17099120
|
A | G | 1 | a0001c0001t0021g0151 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.1517-4598A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17099120 | ||||||
| chrX:17099379
|
T | G | 156 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(153): Show | 156 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(153): Show |
intron_variant | MODIFIER | c.1517-4339T>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17099379 | ||||||
| chrX:17099615
|
T | C | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1517-4103T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17099615 | ||||||
| chrX:17099782
|
C | CTTGTCAT others(5): Show |
4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1517-3928_1517-392 others(16): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17099782 | |||||
| chrX:17099931
|
C | T | 2 | a0001c0001t0001g0096a0001c0001t0001g0107 | 2 | HG01071.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.1517-3787C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17099931 | ||||||
| chrX:17100384
|
G | A | 1 | a0001c0001t0001g0077 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.1517-3334G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17100384 | ||||||
| chrX:17100392
|
C | T | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1517-3326C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17100392 | ||||||
| chrX:17100482
|
C | T | 2 | a0001c0001t0002g0111a0001c0001t0002g0113 | 2 | HG03490.hp1 HG03704.hp2 |
intron_variant | MODIFIER | c.1517-3236C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17100482 | ||||||
| chrX:17100555
|
C | T | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1517-3163C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17100555 | ||||||
| chrX:17100939
|
T | C | 1 | a0001c0001t0004g0100 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.1517-2779T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17100939 | ||||||
| chrX:17101056
|
CT | C | 2 | a0001c0001t0019g0101a0001c0010t0001g0027 | 2 | HG03453.hp1 NA18946.hp2 |
intron_variant | MODIFIER | c.1517-2647delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17101056 | |||||
| chrX:17101298
|
A | G | 156 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(153): Show | 156 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(153): Show |
intron_variant | MODIFIER | c.1517-2420A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17101298 | ||||||
| chrX:17101339
|
A | G | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1517-2379A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17101339 | ||||||
| chrX:17101342
|
G | A | 89 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(86): Show | 89 | HG00280.hp1 HG00438.hp1 HG00609.hp1 others(86): Show |
intron_variant | MODIFIER | c.1517-2376G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17101342 | ||||||
| chrX:17101350
|
T | C | 1 | a0001c0001t0001g0078 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1517-2368T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17101350 | ||||||
| chrX:17101386
|
G | C | 152 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(149): Show | 152 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(149): Show |
intron_variant | MODIFIER | c.1517-2332G>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17101386 | ||||||
| chrX:17101465
|
C | T | 1 | a0001c0001t0001g0028 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.1517-2253C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17101465 | ||||||
| chrX:17101467
|
A | G | 1 | a0001c0001t0004g0035 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.1517-2251A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17101467 | ||||||
| chrX:17101543
|
T | C | 1 | a0001c0001t0016g0020 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1517-2175T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17101543 | ||||||
| chrX:17101616
|
G | A | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1517-2102G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17101616 | ||||||
| chrX:17101631
|
A | T | 2 | a0001c0001t0015g0019a0001c0001t0016g0020 | 2 | HG01106.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.1517-2087A>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17101631 | ||||||
| chrX:17102012
|
ATTTAT | A | 1 | a0001c0001t0015g0019 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.1517-1690_1517-168 others(9): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17102012 | |||||
| chrX:17102023
|
TTTATTTT others(3): Show |
T | 2 | a0001c0001t0016g0020a0001c0001t0019g0101 | 2 | HG02723.hp2 NA18946.hp2 |
intron_variant | MODIFIER | c.1517-1690_1517-168 others(14): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17102023 | |||||
| chrX:17102028
|
T | G | 2 | a0001c0001t0001g0023a0001c0001t0020g0045 | 2 | HG02572.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.1517-1690T>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17102028 | ||||||
| chrX:17102028
|
T | TTTATG | 5 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0002g0097others(2): Show | 5 | HG02300.hp2 HG03139.hp1 NA18522.hp1 others(2): Show |
intron_variant | MODIFIER | c.1517-1640_1517-163 others(9): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17102028 | |||||
| chrX:17102028
|
T | TTTATGTT others(3): Show |
1 | a0001c0001t0001g0081 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.1517-1645_1517-163 others(14): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17102028 | |||||
| chrX:17102028
|
TTTATG | T | 4 | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0007others(1): Show | 4 | HG00140.hp1 HG01167.hp1 HG01517.hp2 others(1): Show |
intron_variant | MODIFIER | c.1517-1640_1517-163 others(9): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17102028 | |||||
| chrX:17102028
|
TTTATGTT others(3): Show |
T | 1 | a0001c0001t0003g0008 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.1517-1645_1517-163 others(14): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17102028 | |||||
| chrX:17102028
|
TTTATGTT others(28): Show |
T | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1517-1670_1517-163 others(39): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17102028 | |||||
| chrX:17102068
|
G | T | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1517-1650G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17102068 | ||||||
| chrX:17102068
|
GTTATGTT others(8): Show |
G | 8 | a0001c0001t0001g0034a0001c0001t0001g0041a0001c0001t0001g0061others(5): Show | 8 | HG00609.hp1 HG01934.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.1517-1645_1517-163 others(19): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17102068 | |||||
| chrX:17102073
|
G | T | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1517-1645G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17102073 | ||||||
| chrX:17102073
|
GTTATGTT others(3): Show |
G | 57 | a0001c0001t0001g0001a0001c0001t0001g0018a0001c0001t0001g0028others(54): Show | 57 | HG00642.hp1 HG00673.hp1 HG00735.hp2 others(54): Show |
intron_variant | MODIFIER | c.1517-1640_1517-163 others(14): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17102073 | |||||
| chrX:17102078
|
G | T | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1517-1640G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17102078 | ||||||
| chrX:17102078
|
GTTATT | G | 54 | a0001c0001t0001g0002a0001c0001t0001g0025a0001c0001t0001g0040others(51): Show | 54 | HG00280.hp1 HG00438.hp2 HG00621.hp1 others(51): Show |
intron_variant | MODIFIER | c.1517-1628_1517-162 others(9): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17102078 | |||||
| chrX:17102078
|
GTTATTTT others(3): Show |
G | 1 | a0001c0001t0001g0102 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.1517-1633_1517-162 others(14): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17102078 | |||||
| chrX:17102083
|
T | G | 30 | a0001c0001t0001g0023a0001c0001t0001g0031a0001c0001t0001g0072others(27): Show | 30 | HG00438.hp1 HG00735.hp1 HG01069.hp1 others(27): Show |
intron_variant | MODIFIER | c.1517-1635T>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17102083 | ||||||
| chrX:17102703
|
T | G | 1 | a0001c0001t0015g0019 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.1517-1015T>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17102703 | ||||||
| chrX:17103112
|
G | A | 156 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(153): Show | 156 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(153): Show |
intron_variant | MODIFIER | c.1517-606G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17103112 | ||||||
| chrX:17103282
|
C | T | 1 | a0001c0001t0004g0035 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.1517-436C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17103282 | ||||||
| chrX:17103455
|
G | A | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1517-263G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17103455 | ||||||
| chrX:17103979
|
C | T | 61 | a0001c0001t0001g0023a0001c0001t0001g0031a0001c0001t0001g0056others(58): Show | 61 | HG00438.hp2 HG00621.hp1 HG01069.hp1 others(58): Show |
intron_variant | MODIFIER | c.1578+200C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17103979 | ||||||
| chrX:17104134
|
A | G | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1578+355A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17104134 | ||||||
| chrX:17104178
|
T | C | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1578+399T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17104178 | ||||||
| chrX:17104304
|
G | T | 2 | a0001c0001t0015g0019a0001c0001t0016g0020 | 2 | HG01106.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.1578+525G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17104304 | ||||||
| chrX:17104411
|
G | A | 1 | a0001c0001t0001g0069 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1578+632G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17104411 | ||||||
| chrX:17104610
|
A | G | 1 | a0001c0001t0001g0064 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.1578+831A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17104610 | ||||||
| chrX:17105030
|
C | CT | 3 | a0001c0001t0002g0163a0001c0001t0026g0108a0001c0010t0001g0027 | 3 | HG03453.hp1 HG03942.hp1 NA19091.hp1 |
intron_variant | MODIFIER | c.1578+1263dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17105030 | |||||
| chrX:17105030
|
CT | C | 2 | a0001c0001t0001g0062a0001c0001t0001g0156 | 2 | HG01952.hp1 NA18959.hp1 |
intron_variant | MODIFIER | c.1578+1263delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17105030 | |||||
| chrX:17105133
|
A | G | 3 | a0001c0001t0003g0008a0001c0001t0003g0009a0004c0004t0003g0014 | 3 | HG02257.hp1 HG03669.hp1 HG03927.hp2 |
intron_variant | MODIFIER | c.1578+1354A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17105133 | ||||||
| chrX:17105174
|
C | A | 1 | a0001c0001t0025g0024 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1578+1395C>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17105174 | ||||||
| chrX:17105281
|
C | T | 1 | a0001c0001t0001g0059 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.1578+1502C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17105281 | ||||||
| chrX:17105417
|
C | A | 2 | a0001c0001t0015g0019a0001c0001t0016g0020 | 2 | HG01106.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.1578+1638C>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17105417 | ||||||
| chrX:17105718
|
A | T | 1 | a0001c0001t0025g0024 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1578+1939A>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17105718 | ||||||
| chrX:17105994
|
C | G | 1 | a0001c0001t0017g0013 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.1578+2215C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17105994 | ||||||
| chrX:17106045
|
G | A | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1578+2266G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17106045 | ||||||
| chrX:17106203
|
G | A | 1 | a0001c0001t0018g0057 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1578+2424G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17106203 | ||||||
| chrX:17106415
|
C | CT | 2 | a0001c0001t0001g0079a0001c0001t0001g0155 | 2 | NA18989.hp1 NA18994.hp1 |
intron_variant | MODIFIER | c.1578+2652dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17106415 | |||||
| chrX:17106415
|
CT | C | 2 | a0001c0001t0001g0040a0001c0001t0001g0102 | 2 | HG01943.hp1 NA19006.hp1 |
intron_variant | MODIFIER | c.1578+2652delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17106415 | |||||
| chrX:17106624
|
CG | C | 1 | a0001c0001t0001g0040 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.1578+2848delG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17106624 | |||||
| chrX:17107015
|
A | G | 26 | a0001c0001t0001g0018a0001c0001t0001g0037a0001c0001t0001g0093others(23): Show | 26 | HG01071.hp2 HG01243.hp1 HG01928.hp1 others(23): Show |
intron_variant | MODIFIER | c.1578+3236A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17107015 | ||||||
| chrX:17107132
|
G | A | 165 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(162): Show | 165 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(162): Show |
intron_variant | MODIFIER | c.1578+3353G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17107132 | ||||||
| chrX:17107147
|
A | T | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1578+3368A>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17107147 | ||||||
| chrX:17107352
|
G | T | 2 | a0001c0001t0002g0105a0001c0001t0002g0129 | 2 | HG03710.hp1 NA19066.hp1 |
intron_variant | MODIFIER | c.1578+3573G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17107352 | ||||||
| chrX:17107881
|
A | AT | 1 | a0001c0001t0001g0037 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.1578+4102_1578+410 others(5): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17107881 | ||||||
| chrX:17107917
|
G | GT | 1 | a0001c0001t0001g0040 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.1578+4143dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17107917 | |||||
| chrX:17108176
|
C | CT | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1578+4411dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17108176 | |||||
| chrX:17108176
|
CT | C | 2 | a0001c0001t0001g0062a0001c0001t0013g0030 | 2 | NA18959.hp1 NA18982.hp1 |
intron_variant | MODIFIER | c.1578+4411delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17108176 | |||||
| chrX:17108203
|
C | T | 4 | a0001c0001t0001g0149a0001c0001t0001g0150a0001c0001t0021g0151others(1): Show | 4 | NA18977.hp1 NA19012.hp1 NA19068.hp1 others(1): Show |
intron_variant | MODIFIER | c.1578+4424C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17108203 | ||||||
| chrX:17108236
|
C | T | 1 | a0001c0001t0001g0053 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.1578+4457C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17108236 | ||||||
| chrX:17108467
|
C | T | 1 | a0004c0004t0003g0014 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.1578+4688C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17108467 | ||||||
| chrX:17108505
|
C | T | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1578+4726C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17108505 | ||||||
| chrX:17108918
|
C | CT | 2 | a0001c0001t0001g0037a0001c0001t0017g0013 | 2 | HG04199.hp1 NA19083.hp1 |
intron_variant | MODIFIER | c.1578+5154dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17108918 | |||||
| chrX:17108918
|
CT | C | 1 | a0001c0001t0001g0062 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.1578+5154delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17108918 | |||||
| chrX:17108969
|
TA | T | 1 | a0001c0001t0001g0062 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.1578+5206delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17108969 | |||||
| chrX:17109068
|
A | G | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1578+5289A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17109068 | ||||||
| chrX:17109136
|
T | C | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1578+5357T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17109136 | ||||||
| chrX:17109717
|
A | G | 1 | a0001c0001t0001g0056 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1578+5938A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17109717 | ||||||
| chrX:17110279
|
G | A | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1578+6500G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17110279 | ||||||
| chrX:17110310
|
C | CT | 11 | a0001c0001t0001g0002a0001c0001t0001g0058a0001c0001t0001g0076others(8): Show | 11 | HG00438.hp1 HG02293.hp2 HG03688.hp1 others(8): Show |
intron_variant | MODIFIER | c.1578+6549dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17110310 | |||||
| chrX:17110310
|
C | CTT | 5 | a0001c0001t0001g0166a0001c0001t0009g0136a0001c0001t0009g0141others(2): Show | 5 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.1578+6548_1578+654 others(6): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17110310 | |||||
| chrX:17110310
|
CT | C | 1 | a0001c0001t0001g0028 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.1578+6549delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17110310 | |||||
| chrX:17110329
|
G | T | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1578+6550G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17110329 | ||||||
| chrX:17110523
|
C | CA | 1 | a0001c0001t0001g0153 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.1578+6757dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17110523 | |||||
| chrX:17110587
|
G | A | 1 | a0001c0001t0001g0023 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1578+6808G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17110587 | ||||||
| chrX:17110691
|
T | TCAAA | 1 | a0001c0001t0001g0159 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.1578+6936_1578+693 others(8): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17110691 | |||||
| chrX:17110691
|
TCAAA | T | 15 | a0001c0001t0001g0025a0001c0001t0004g0044a0001c0001t0004g0074others(12): Show | 15 | HG01069.hp1 HG01071.hp1 HG02109.hp1 others(12): Show |
intron_variant | MODIFIER | c.1578+6936_1578+693 others(8): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17110691 | |||||
| chrX:17111066
|
C | T | 2 | a0001c0001t0002g0097a0001c0001t0002g0116 | 2 | HG01433.hp1 HG02300.hp2 |
intron_variant | MODIFIER | c.1578+7287C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17111066 | ||||||
| chrX:17111117
|
T | C | 1 | a0001c0001t0025g0024 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1578+7338T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17111117 | ||||||
| chrX:17111171
|
G | C | 2 | a0001c0001t0001g0054a0001c0001t0001g0065 | 2 | HG00673.hp1 HG02074.hp1 |
intron_variant | MODIFIER | c.1578+7392G>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17111171 | ||||||
| chrX:17111567
|
G | T | 9 | a0001c0001t0005g0029a0001c0001t0005g0033a0001c0001t0005g0036others(6): Show | 9 | HG00280.hp1 HG00735.hp1 HG01261.hp1 others(6): Show |
intron_variant | MODIFIER | c.1578+7788G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17111567 | ||||||
| chrX:17111609
|
G | A | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1578+7830G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17111609 | ||||||
| chrX:17111974
|
A | AT | 1 | a0001c0001t0001g0096 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.1578+8207dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17111974 | |||||
| chrX:17112086
|
G | A | 156 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(153): Show | 156 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(153): Show |
intron_variant | MODIFIER | c.1578+8307G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17112086 | ||||||
| chrX:17112134
|
AT | A | 1 | a0001c0001t0001g0166 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.1578+8361delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17112134 | |||||
| chrX:17112870
|
C | T | 6 | a0001c0001t0001g0002a0001c0001t0001g0058a0001c0001t0001g0094others(3): Show | 6 | HG00438.hp1 NA18612.hp1 NA18946.hp2 others(3): Show |
intron_variant | MODIFIER | c.1578+9091C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17112870 | ||||||
| chrX:17113067
|
G | A | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1578+9288G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17113067 | ||||||
| chrX:17113070
|
C | T | 2 | a0001c0001t0001g0152a0001c0001t0001g0153 | 2 | NA18965.hp1 NA19000.hp1 |
intron_variant | MODIFIER | c.1578+9291C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17113070 | ||||||
| chrX:17113091
|
C | CA | 13 | a0001c0001t0001g0047a0001c0001t0001g0054a0001c0001t0001g0061others(10): Show | 13 | HG00642.hp1 HG00673.hp1 HG01099.hp1 others(10): Show |
intron_variant | MODIFIER | c.1578+9337dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17113091 | |||||
| chrX:17113091
|
C | CAA | 1 | a0001c0001t0001g0065 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.1578+9336_1578+933 others(6): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17113091 | |||||
| chrX:17113091
|
CA | C | 26 | a0001c0001t0001g0023a0001c0001t0001g0040a0001c0001t0001g0056others(23): Show | 26 | HG01433.hp1 HG02055.hp1 HG02145.hp1 others(23): Show |
intron_variant | MODIFIER | c.1578+9337delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17113091 | |||||
| chrX:17113091
|
CAA | C | 43 | a0001c0001t0002g0003a0001c0001t0002g0015a0001c0001t0002g0016others(40): Show | 43 | HG00438.hp2 HG00621.hp1 HG01069.hp1 others(40): Show |
intron_variant | MODIFIER | c.1578+9336_1578+933 others(6): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17113091 | |||||
| chrX:17113091
|
CAAA | C | 2 | a0001c0001t0002g0039a0001c0001t0002g0119 | 2 | NA18747.hp1 NA18960.hp1 |
intron_variant | MODIFIER | c.1578+9335_1578+933 others(7): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17113091 | |||||
| chrX:17113205
|
A | G | 1 | a0001c0001t0002g0123 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.1578+9426A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17113205 | ||||||
| chrX:17113210
|
A | C | 1 | a0001c0001t0001g0056 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1578+9431A>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17113210 | ||||||
| chrX:17113214
|
A | G | 61 | a0001c0001t0001g0023a0001c0001t0001g0031a0001c0001t0001g0056others(58): Show | 61 | HG00438.hp2 HG00621.hp1 HG01069.hp1 others(58): Show |
intron_variant | MODIFIER | c.1578+9435A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17113214 | ||||||
| chrX:17113504
|
G | A | 1 | a0001c0001t0001g0080 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.1578+9725G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17113504 | ||||||
| chrX:17113665
|
GA | G | 1 | a0005c0005t0024g0148 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1578+9888delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17113665 | |||||
| chrX:17113809
|
A | G | 156 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(153): Show | 156 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(153): Show |
intron_variant | MODIFIER | c.1578+10030A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17113809 | ||||||
| chrX:17113876
|
G | A | 150 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(147): Show | 150 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(147): Show |
intron_variant | MODIFIER | c.1578+10097G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17113876 | ||||||
| chrX:17114112
|
G | T | 4 | a0001c0001t0001g0056a0001c0001t0001g0068a0001c0001t0008g0021others(1): Show | 4 | HG03098.hp1 HG03209.hp1 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.1578+10333G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17114112 | ||||||
| chrX:17114217
|
C | A | 1 | a0001c0001t0001g0087 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.1578+10438C>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17114217 | ||||||
| chrX:17114443
|
A | G | 4 | a0001c0001t0001g0002a0001c0001t0001g0058a0001c0001t0001g0165others(1): Show | 4 | HG00438.hp1 NA18612.hp1 NA18971.hp1 others(1): Show |
intron_variant | MODIFIER | c.1578+10664A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17114443 | ||||||
| chrX:17114706
|
C | G | 2 | a0001c0001t0015g0019a0001c0001t0016g0020 | 2 | HG01106.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.1578+10927C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17114706 | ||||||
| chrX:17115024
|
T | A | 1 | a0001c0001t0010g0140 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1578+11245T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17115024 | ||||||
| chrX:17115155
|
C | T | 150 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(147): Show | 150 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(147): Show |
intron_variant | MODIFIER | c.1578+11376C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17115155 | ||||||
| chrX:17115224
|
C | T | 1 | a0001c0001t0001g0066 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.1578+11445C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17115224 | ||||||
| chrX:17115784
|
C | T | 1 | a0001c0001t0002g0104 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.1578+12005C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17115784 | ||||||
| chrX:17115873
|
A | C | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1578+12094A>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17115873 | ||||||
| chrX:17115941
|
C | G | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1578+12162C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17115941 | ||||||
| chrX:17115983
|
A | G | 150 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(147): Show | 150 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(147): Show |
intron_variant | MODIFIER | c.1578+12204A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17115983 | ||||||
| chrX:17116191
|
C | G | 1 | a0001c0001t0002g0125 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.1578+12412C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17116191 | ||||||
| chrX:17116376
|
A | AT | 9 | a0001c0001t0001g0096a0001c0001t0004g0044a0001c0001t0004g0074others(6): Show | 9 | HG01069.hp1 HG01071.hp1 HG01071.hp2 others(6): Show |
intron_variant | MODIFIER | c.1578+12603dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17116376 | |||||
| chrX:17116500
|
C | T | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1578+12721C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17116500 | ||||||
| chrX:17116947
|
GC | G | 1 | a0001c0001t0001g0166 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.1578+13170delC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17116947 | |||||
| chrX:17117121
|
GT | G | 1 | a0001c0001t0001g0166 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.1578+13344delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17117121 | |||||
| chrX:17117380
|
C | T | 5 | a0001c0001t0001g0002a0001c0001t0001g0058a0001c0001t0001g0094others(2): Show | 5 | HG00438.hp1 NA18612.hp1 NA18952.hp1 others(2): Show |
intron_variant | MODIFIER | c.1578+13601C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17117380 | ||||||
| chrX:17117518
|
T | TG | 2 | a0001c0001t0001g0093a0001c0001t0001g0103 | 2 | HG01243.hp1 HG02486.hp1 |
intron_variant | MODIFIER | c.1578+13740dupG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17117518 | |||||
| chrX:17117524
|
G | GT | 1 | a0001c0001t0001g0166 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.1578+13748dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17117524 | |||||
| chrX:17117584
|
T | TC | 1 | a0001c0001t0001g0166 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.1578+13808dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17117584 | |||||
| chrX:17117649
|
C | T | 1 | a0001c0010t0001g0027 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1578+13870C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17117649 | ||||||
| chrX:17117673
|
A | G | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1578+13894A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17117673 | ||||||
| chrX:17117744
|
T | C | 6 | a0001c0001t0001g0062a0001c0001t0001g0070a0001c0001t0001g0071others(3): Show | 6 | NA18959.hp1 NA18994.hp1 NA18995.hp1 others(3): Show |
intron_variant | MODIFIER | c.1578+13965T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17117744 | ||||||
| chrX:17117795
|
TG | T | 1 | a0001c0001t0001g0166 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.1578+14019delG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17117795 | |||||
| chrX:17117802
|
A | G | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1578+14023A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17117802 | ||||||
| chrX:17117851
|
A | C | 1 | a0001c0001t0001g0069 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1578+14072A>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17117851 | ||||||
| chrX:17117948
|
C | CT | 8 | a0001c0001t0001g0052a0001c0001t0001g0072a0001c0001t0001g0073others(5): Show | 8 | HG03139.hp1 HG03209.hp1 HG03579.hp1 others(5): Show |
intron_variant | MODIFIER | c.1578+14198dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17117948 | |||||
| chrX:17117948
|
C | CTT | 1 | a0001c0001t0001g0083 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.1578+14197_1578+14 others(8): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17117948 | |||||
| chrX:17117948
|
CT | C | 105 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(102): Show | 105 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(102): Show |
intron_variant | MODIFIER | c.1578+14198delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17117948 | |||||
| chrX:17117948
|
CTT | C | 8 | a0001c0001t0001g0042a0001c0001t0001g0146a0001c0001t0002g0022others(5): Show | 8 | HG01515.hp1 HG02040.hp1 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.1578+14197_1578+14 others(8): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17117948 | |||||
| chrX:17117948
|
CTTTTTTT others(1): Show |
C | 1 | a0001c0001t0001g0159 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.1578+14191_1578+14 others(14): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17117948 | |||||
| chrX:17117998
|
C | T | 1 | a0001c0001t0001g0053 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.1578+14219C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17117998 | ||||||
| chrX:17118028
|
CG | C | 1 | a0001c0001t0001g0166 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.1578+14251delG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17118028 | |||||
| chrX:17118104
|
C | T | 1 | a0001c0001t0001g0023 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1578+14325C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17118104 | ||||||
| chrX:17118108
|
T | C | 156 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(153): Show | 156 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(153): Show |
intron_variant | MODIFIER | c.1578+14329T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17118108 | ||||||
| chrX:17118116
|
C | T | 1 | a0001c0001t0001g0023 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1578+14337C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17118116 | ||||||
| chrX:17118126
|
AT | A | 1 | a0001c0001t0001g0166 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.1578+14353delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17118126 | |||||
| chrX:17118169
|
C | T | 1 | a0001c0003t0001g0055 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.1578+14390C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17118169 | ||||||
| chrX:17118176
|
G | T | 1 | a0001c0001t0001g0166 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.1578+14397G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17118176 | ||||||
| chrX:17118177
|
T | C | 1 | a0001c0001t0001g0166 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.1578+14398T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17118177 | ||||||
| chrX:17118423
|
T | TG | 1 | a0001c0001t0001g0166 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.1578+14647dupG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17118423 | |||||
| chrX:17118433
|
T | TC | 1 | a0001c0001t0001g0166 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.1578+14655dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17118433 | |||||
| chrX:17118687
|
AAGTT | A | 1 | a0001c0001t0006g0134 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.1578+14909_1578+14 others(10): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17118687 | ||||||
| chrX:17119269
|
G | A | 1 | a0001c0001t0003g0008 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.1579-14555G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17119269 | ||||||
| chrX:17119445
|
C | T | 1 | a0001c0001t0001g0025 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.1579-14379C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17119445 | ||||||
| chrX:17119502
|
A | G | 1 | a0001c0010t0001g0027 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1579-14322A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17119502 | ||||||
| chrX:17119868
|
C | CT | 42 | a0001c0001t0001g0056a0001c0001t0001g0068a0001c0001t0001g0072others(39): Show | 42 | HG01069.hp1 HG01071.hp1 HG01071.hp2 others(39): Show |
intron_variant | MODIFIER | c.1579-13930dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17119868 | |||||
| chrX:17119868
|
C | CTT | 14 | a0001c0001t0001g0023a0001c0001t0001g0031a0001c0001t0001g0083others(11): Show | 14 | HG00438.hp2 HG02055.hp1 HG02300.hp2 others(11): Show |
intron_variant | MODIFIER | c.1579-13931_1579-13 others(8): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17119868 | |||||
| chrX:17119868
|
C | CTTT | 3 | a0001c0001t0002g0111a0001c0001t0002g0113a0001c0001t0007g0109 | 3 | HG02602.hp1 HG03490.hp1 HG03704.hp2 |
intron_variant | MODIFIER | c.1579-13932_1579-13 others(9): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17119868 | |||||
| chrX:17119868
|
C | CTTTT | 1 | a0001c0001t0002g0110 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.1579-13933_1579-13 others(10): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17119868 | |||||
| chrX:17119868
|
C | CTTTTTTT others(7): Show |
1 | a0001c0001t0009g0136 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1579-13943_1579-13 others(20): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17119868 | |||||
| chrX:17119868
|
C | CTTTTTTT others(8): Show |
2 | a0001c0001t0009g0141a0001c0001t0010g0140 | 2 | HG02258.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.1579-13944_1579-13 others(21): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17119868 | |||||
| chrX:17119868
|
C | CTTTTTTT others(9): Show |
1 | a0001c0001t0010g0139 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.1579-13945_1579-13 others(22): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17119868 | |||||
| chrX:17119868
|
CT | C | 70 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(67): Show | 70 | HG00280.hp1 HG00438.hp1 HG00609.hp1 others(67): Show |
intron_variant | MODIFIER | c.1579-13930delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17119868 | |||||
| chrX:17119868
|
CTT | C | 12 | a0001c0001t0001g0042a0001c0001t0001g0062a0001c0001t0001g0070others(9): Show | 12 | HG01515.hp1 HG01943.hp1 HG03491.hp1 others(9): Show |
intron_variant | MODIFIER | c.1579-13931_1579-13 others(8): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17119868 | |||||
| chrX:17119930
|
G | A | 1 | a0001c0001t0002g0131 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.1579-13894G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17119930 | ||||||
| chrX:17120628
|
A | G | 2 | a0001c0001t0015g0019a0001c0001t0016g0020 | 2 | HG01106.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.1579-13196A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17120628 | ||||||
| chrX:17120730
|
C | G | 1 | a0001c0001t0004g0035 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.1579-13094C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17120730 | ||||||
| chrX:17120761
|
G | C | 4 | a0001c0001t0002g0003a0001c0001t0002g0022a0001c0001t0002g0039others(1): Show | 4 | HG02040.hp1 HG02293.hp2 NA18747.hp1 others(1): Show |
intron_variant | MODIFIER | c.1579-13063G>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17120761 | ||||||
| chrX:17120787
|
C | T | 1 | a0001c0001t0001g0088 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.1579-13037C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17120787 | ||||||
| chrX:17121295
|
C | A | 1 | a0001c0001t0021g0151 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.1579-12529C>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17121295 | ||||||
| chrX:17121390
|
G | A | 1 | a0001c0001t0011g0124 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.1579-12434G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17121390 | ||||||
| chrX:17121501
|
G | C | 37 | a0001c0001t0002g0003a0001c0001t0002g0015a0001c0001t0002g0016others(34): Show | 37 | HG00438.hp2 HG00621.hp1 HG01074.hp1 others(34): Show |
intron_variant | MODIFIER | c.1579-12323G>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17121501 | ||||||
| chrX:17121521
|
T | G | 1 | a0001c0001t0002g0117 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.1579-12303T>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17121521 | ||||||
| chrX:17121717
|
C | CT | 1 | a0001c0001t0025g0024 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1579-12095dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17121717 | |||||
| chrX:17121717
|
CT | C | 1 | a0001c0001t0002g0112 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.1579-12095delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17121717 | |||||
| chrX:17121804
|
C | T | 3 | a0001c0001t0001g0165a0001c0001t0001g0166a0001c0001t0005g0051 | 3 | HG00280.hp1 HG00438.hp1 NA18974.hp1 |
intron_variant | MODIFIER | c.1579-12020C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17121804 | ||||||
| chrX:17121906
|
A | G | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1579-11918A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17121906 | ||||||
| chrX:17122045
|
T | C | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1579-11779T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17122045 | ||||||
| chrX:17122067
|
A | G | 5 | a0001c0001t0001g0061a0001c0001t0001g0099a0001c0001t0001g0102others(2): Show | 5 | HG01099.hp1 HG01255.hp1 HG01943.hp1 others(2): Show |
intron_variant | MODIFIER | c.1579-11757A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17122067 | ||||||
| chrX:17122117
|
A | G | 1 | a0001c0001t0002g0039 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.1579-11707A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17122117 | ||||||
| chrX:17122308
|
G | A | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1579-11516G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17122308 | ||||||
| chrX:17122517
|
T | A | 2 | a0001c0001t0015g0019a0001c0001t0016g0020 | 2 | HG01106.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.1579-11307T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17122517 | ||||||
| chrX:17122918
|
G | A | 1 | a0001c0001t0005g0086 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.1579-10906G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17122918 | ||||||
| chrX:17123067
|
A | G | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1579-10757A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17123067 | ||||||
| chrX:17123158
|
A | C | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1579-10666A>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17123158 | ||||||
| chrX:17123235
|
C | T | 1 | a0006c0006t0005g0032 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.1579-10589C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17123235 | ||||||
| chrX:17123766
|
G | T | 1 | a0001c0001t0019g0101 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.1579-10058G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17123766 | ||||||
| chrX:17124002
|
C | T | 1 | a0001c0001t0001g0058 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.1579-9822C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17124002 | ||||||
| chrX:17124182
|
G | A | 1 | a0001c0001t0001g0031 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.1579-9642G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17124182 | ||||||
| chrX:17124685
|
C | T | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1579-9139C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17124685 | ||||||
| chrX:17124856
|
C | CT | 7 | a0001c0001t0001g0037a0001c0001t0001g0150a0001c0001t0009g0136others(4): Show | 7 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(4): Show |
intron_variant | MODIFIER | c.1579-8950dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17124856 | |||||
| chrX:17124856
|
CT | C | 2 | a0001c0001t0001g0042a0001c0001t0001g0152 | 2 | HG01515.hp1 NA18965.hp1 |
intron_variant | MODIFIER | c.1579-8950delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17124856 | |||||
| chrX:17124970
|
T | A | 1 | a0001c0001t0003g0008 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.1579-8854T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17124970 | ||||||
| chrX:17125133
|
G | A | 2 | a0001c0001t0015g0019a0001c0001t0016g0020 | 2 | HG01106.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.1579-8691G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17125133 | ||||||
| chrX:17125340
|
G | C | 1 | a0001c0001t0005g0051 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.1579-8484G>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17125340 | ||||||
| chrX:17125959
|
C | T | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1579-7865C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17125959 | ||||||
| chrX:17126612
|
A | G | 156 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(153): Show | 156 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(153): Show |
intron_variant | MODIFIER | c.1579-7212A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17126612 | ||||||
| chrX:17127215
|
C | G | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1579-6609C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17127215 | ||||||
| chrX:17127456
|
G | C | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1579-6368G>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17127456 | ||||||
| chrX:17128067
|
A | G | 1 | a0008c0002t0001g0038 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.1579-5757A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17128067 | ||||||
| chrX:17128094
|
C | T | 1 | a0006c0006t0005g0032 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.1579-5730C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17128094 | ||||||
| chrX:17128148
|
AC | A | 156 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(153): Show | 156 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(153): Show |
intron_variant | MODIFIER | c.1579-5673delC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17128148 | |||||
| chrX:17128168
|
C | G | 156 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(153): Show | 156 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(153): Show |
intron_variant | MODIFIER | c.1579-5656C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17128168 | ||||||
| chrX:17128201
|
A | G | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1579-5623A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17128201 | ||||||
| chrX:17128444
|
G | A | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1579-5380G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17128444 | ||||||
| chrX:17128478
|
T | A | 1 | a0001c0001t0001g0023 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1579-5346T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17128478 | ||||||
| chrX:17128573
|
G | A | 2 | a0001c0001t0002g0097a0001c0001t0002g0116 | 2 | HG01433.hp1 HG02300.hp2 |
intron_variant | MODIFIER | c.1579-5251G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17128573 | ||||||
| chrX:17128881
|
T | C | 2 | a0001c0001t0015g0019a0001c0001t0016g0020 | 2 | HG01106.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.1579-4943T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17128881 | ||||||
| chrX:17129088
|
G | A | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1579-4736G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17129088 | ||||||
| chrX:17129492
|
A | G | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1579-4332A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17129492 | ||||||
| chrX:17129543
|
C | T | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1579-4281C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17129543 | ||||||
| chrX:17129556
|
A | G | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1579-4268A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17129556 | ||||||
| chrX:17129873
|
T | C | 1 | a0001c0001t0001g0056 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1579-3951T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17129873 | ||||||
| chrX:17129917
|
T | C | 1 | a0001c0001t0001g0077 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.1579-3907T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17129917 | ||||||
| chrX:17130004
|
A | G | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1579-3820A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17130004 | ||||||
| chrX:17130447
|
TC | T | 1 | a0001c0001t0001g0040 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.1579-3374delC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17130447 | |||||
| chrX:17130615
|
C | G | 1 | a0001c0001t0003g0004 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1579-3209C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17130615 | ||||||
| chrX:17130734
|
AC | A | 152 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(149): Show | 152 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(149): Show |
intron_variant | MODIFIER | c.1579-3088delC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17130734 | |||||
| chrX:17131109
|
A | C | 1 | a0001c0001t0001g0040 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.1579-2715A>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17131109 | ||||||
| chrX:17131461
|
C | G | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1579-2363C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17131461 | ||||||
| chrX:17131562
|
T | C | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1579-2262T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17131562 | ||||||
| chrX:17131741
|
C | T | 3 | a0001c0001t0002g0015a0001c0001t0002g0016a0001c0001t0002g0017 | 3 | NA18955.hp1 NA18962.hp1 NA19076.hp1 |
intron_variant | MODIFIER | c.1579-2083C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17131741 | ||||||
| chrX:17131867
|
C | T | 150 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(147): Show | 150 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(147): Show |
intron_variant | MODIFIER | c.1579-1957C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17131867 | ||||||
| chrX:17131903
|
G | GT | 9 | a0001c0001t0001g0068a0001c0001t0003g0005a0001c0001t0003g0007others(6): Show | 9 | HG00140.hp1 HG01167.hp1 HG01517.hp2 others(6): Show |
intron_variant | MODIFIER | c.1579-1904dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17131903 | |||||
| chrX:17131903
|
GT | G | 2 | a0001c0001t0001g0001a0001c0001t0003g0012 | 2 | HG01258.hp1 NA19057.hp1 |
intron_variant | MODIFIER | c.1579-1904delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17131903 | |||||
| chrX:17131908
|
T | G | 2 | a0001c0001t0015g0019a0001c0001t0016g0020 | 2 | HG01106.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.1579-1916T>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17131908 | ||||||
| chrX:17132368
|
G | C | 150 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(147): Show | 150 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(147): Show |
intron_variant | MODIFIER | c.1579-1456G>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17132368 | ||||||
| chrX:17132374
|
A | C | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1579-1450A>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17132374 | ||||||
| chrX:17132451
|
C | T | 1 | a0001c0001t0027g0115 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1579-1373C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17132451 | ||||||
| chrX:17132717
|
T | C | 1 | a0001c0001t0001g0052 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.1579-1107T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17132717 | ||||||
| chrX:17133000
|
T | G | 37 | a0001c0001t0002g0003a0001c0001t0002g0015a0001c0001t0002g0016others(34): Show | 37 | HG00438.hp2 HG00621.hp1 HG01074.hp1 others(34): Show |
intron_variant | MODIFIER | c.1579-824T>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17133000 | ||||||
| chrX:17133101
|
T | A | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1579-723T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17133101 | ||||||
| chrX:17133363
|
G | A | 1 | a0001c0001t0026g0108 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.1579-461G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17133363 | ||||||
| chrX:17133489
|
CT | C | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1579-332delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 17133489 | |||||
| chrX:17133546
|
C | T | 1 | a0001c0001t0002g0111 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.1579-278C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17133546 | ||||||
| chrX:17133764
|
T | G | 1 | a0001c0001t0003g0004 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1579-60T>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17133764 | ||||||
| chrX:17133803
|
C | T | 2 | a0001c0001t0015g0019a0001c0001t0016g0020 | 2 | HG01106.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.1579-21C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17133803 | ||||||
| chrX:17134211
|
A | C | 152 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(149): Show | 152 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(149): Show |
intron_variant | MODIFIER | c.1662+304A>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 15/17 | chrX | 17134211 | ||||||
| chrX:17134452
|
T | C | 1 | a0001c0001t0001g0031 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.1662+545T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 15/17 | chrX | 17134452 | ||||||
| chrX:17134542
|
T | C | 1 | a0001c0001t0011g0124 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.1662+635T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 15/17 | chrX | 17134542 | ||||||
| chrX:17134635
|
G | GT | 1 | a0001c0001t0001g0088 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.1663-617dupT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chrX | 17134635 | |||||
| chrX:17134652
|
C | T | 1 | a0001c0001t0002g0112 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.1663-609C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 15/17 | chrX | 17134652 | ||||||
| chrX:17134653
|
A | G | 156 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(153): Show | 156 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(153): Show |
intron_variant | MODIFIER | c.1663-608A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 15/17 | chrX | 17134653 | ||||||
| chrX:17134693
|
G | C | 1 | a0001c0001t0002g0022 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.1663-568G>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 15/17 | chrX | 17134693 | ||||||
| chrX:17134778
|
C | T | 75 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(72): Show | 75 | HG00438.hp1 HG00609.hp1 HG00642.hp1 others(72): Show |
intron_variant | MODIFIER | c.1663-483C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 15/17 | chrX | 17134778 | ||||||
| chrX:17135457
|
T | C | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1808+51T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 16/17 | chrX | 17135457 | ||||||
| chrX:17135488
|
G | A | 1 | a0001c0001t0001g0166 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.1808+82G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 16/17 | chrX | 17135488 | ||||||
| chrX:17135727
|
A | T | 1 | a0001c0001t0011g0124 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.1808+321A>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 16/17 | chrX | 17135727 | ||||||
| chrX:17135892
|
A | T | 1 | a0001c0001t0001g0066 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.1808+486A>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 16/17 | chrX | 17135892 | ||||||
| chrX:17136240
|
T | C | 154 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(151): Show | 154 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(151): Show |
intron_variant | MODIFIER | c.1808+834T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 16/17 | chrX | 17136240 | ||||||
| chrX:17136873
|
A | G | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1808+1467A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 16/17 | chrX | 17136873 | ||||||
| chrX:17136988
|
A | G | 1 | a0001c0001t0001g0052 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.1808+1582A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 16/17 | chrX | 17136988 | ||||||
| chrX:17137452
|
G | A | 152 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(149): Show | 152 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(149): Show |
intron_variant | MODIFIER | c.1809-1404G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 16/17 | chrX | 17137452 | ||||||
| chrX:17137580
|
T | C | 1 | a0001c0001t0001g0096 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.1809-1276T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 16/17 | chrX | 17137580 | ||||||
| chrX:17137741
|
G | C | 3 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0020g0045 | 3 | HG02572.hp1 HG03139.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.1809-1115G>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 16/17 | chrX | 17137741 | ||||||
| chrX:17138128
|
C | T | 1 | a0001c0001t0001g0056 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1809-728C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 16/17 | chrX | 17138128 | ||||||
| chrX:17138432
|
TG | T | 3 | a0001c0001t0001g0142a0001c0001t0001g0143a0001c0001t0001g0145 | 3 | HG02015.hp1 HG03688.hp1 HG04115.hp1 |
intron_variant | MODIFIER | c.1809-423delG | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 16/17 | chrX | 17138432 | ||||||
| chrX:17138679
|
A | C | 1 | a0001c0001t0005g0050 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.1809-177A>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 16/17 | chrX | 17138679 | ||||||
| chrX:17139025
|
T | A | 152 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(149): Show | 152 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(149): Show |
intron_variant | MODIFIER | c.1914+64T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 17/17 | chrX | 17139025 | ||||||
| chrX:17140302
|
G | T | 1 | a0001c0001t0001g0078 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1914+1341G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 17/17 | chrX | 17140302 | ||||||
| chrX:17140483
|
A | G | 2 | a0001c0001t0001g0089a0003c0008t0001g0090 | 2 | NA18967.hp1 NA18983.hp1 |
intron_variant | MODIFIER | c.1914+1522A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 17/17 | chrX | 17140483 | ||||||
| chrX:17140615
|
A | G | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1914+1654A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 17/17 | chrX | 17140615 | ||||||
| chrX:17140657
|
G | A | 5 | a0001c0001t0001g0069a0001c0001t0009g0136a0001c0001t0009g0141others(2): Show | 5 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.1914+1696G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 17/17 | chrX | 17140657 | ||||||
| chrX:17140735
|
A | ATAT | 8 | a0001c0001t0001g0028a0001c0001t0001g0034a0001c0001t0001g0152others(5): Show | 8 | HG00609.hp1 HG02056.hp1 HG03491.hp1 others(5): Show |
intron_variant | MODIFIER | c.1914+1824_1914+182 others(7): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 17140735 | |||||
| chrX:17140735
|
A | ATATTAT | 1 | a0001c0001t0001g0153 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.1914+1821_1914+182 others(10): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 17140735 | |||||
| chrX:17140735
|
ATAT | A | 48 | a0001c0001t0001g0023a0001c0001t0001g0031a0001c0001t0001g0052others(45): Show | 48 | HG00280.hp1 HG00673.hp1 HG00735.hp2 others(45): Show |
intron_variant | MODIFIER | c.1914+1824_1914+182 others(7): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 17140735 | |||||
| chrX:17140735
|
ATATTAT | A | 51 | a0001c0001t0001g0018a0001c0001t0001g0056a0001c0001t0001g0083others(48): Show | 51 | HG00438.hp2 HG00621.hp1 HG01069.hp1 others(48): Show |
intron_variant | MODIFIER | c.1914+1821_1914+182 others(10): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 17140735 | |||||
| chrX:17140735
|
ATATTATT others(2): Show |
A | 9 | a0001c0001t0002g0105a0001c0001t0003g0004a0001c0001t0003g0005others(6): Show | 9 | HG00140.hp1 HG01517.hp2 HG02109.hp2 others(6): Show |
intron_variant | MODIFIER | c.1914+1818_1914+182 others(13): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 17140735 | |||||
| chrX:17140735
|
ATATTATT others(5): Show |
A | 1 | a0001c0001t0018g0057 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1914+1815_1914+182 others(16): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 17140735 | |||||
| chrX:17140735
|
ATATTATT others(8): Show |
A | 6 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0144others(3): Show | 6 | HG01106.hp1 HG02723.hp2 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.1914+1812_1914+182 others(19): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 17140735 | |||||
| chrX:17140735
|
ATATTATT others(11): Show |
A | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1914+1809_1914+182 others(22): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 17140735 | |||||
| chrX:17141059
|
C | T | 2 | a0001c0001t0015g0019a0001c0001t0016g0020 | 2 | HG01106.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.1914+2098C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 17/17 | chrX | 17141059 | ||||||
| chrX:17141068
|
G | A | 1 | a0001c0001t0001g0146 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.1914+2107G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 17/17 | chrX | 17141068 | ||||||
| chrX:17141072
|
G | A | 1 | a0001c0001t0003g0012 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.1914+2111G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 17/17 | chrX | 17141072 | ||||||
| chrX:17141370
|
T | C | 5 | a0001c0001t0001g0144a0001c0001t0001g0147a0001c0001t0001g0156others(2): Show | 5 | HG01928.hp1 HG01952.hp1 HG02027.hp1 others(2): Show |
intron_variant | MODIFIER | c.1914+2409T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 17/17 | chrX | 17141370 | ||||||
| chrX:17141410
|
A | C | 1 | a0001c0001t0003g0004 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1914+2449A>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 17/17 | chrX | 17141410 | ||||||
| chrX:17142331
|
A | C | 1 | a0001c0001t0003g0005 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.1914+3370A>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 17/17 | chrX | 17142331 | ||||||
| chrX:17142823
|
C | T | 152 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(149): Show | 152 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(149): Show |
intron_variant | MODIFIER | c.1914+3862C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 17/17 | chrX | 17142823 | ||||||
| chrX:17143139
|
C | A | 1 | a0001c0001t0007g0109 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.1914+4178C>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 17/17 | chrX | 17143139 | ||||||
| chrX:17143161
|
A | G | 1 | a0001c0001t0027g0115 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1914+4200A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 17/17 | chrX | 17143161 | ||||||
| chrX:17143455
|
T | TTTTAA | 156 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(153): Show | 156 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(153): Show |
intron_variant | MODIFIER | c.1915-3955_1915-395 others(9): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 17143455 | |||||
| chrX:17143675
|
T | C | 1 | a0001c0001t0004g0092 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1915-3738T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 17/17 | chrX | 17143675 | ||||||
| chrX:17144000
|
C | T | 2 | a0001c0001t0015g0019a0001c0001t0016g0020 | 2 | HG01106.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.1915-3413C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 17/17 | chrX | 17144000 | ||||||
| chrX:17144195
|
C | G | 1 | a0001c0001t0018g0057 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1915-3218C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 17/17 | chrX | 17144195 | ||||||
| chrX:17144472
|
C | T | 1 | a0001c0001t0001g0091 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1915-2941C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 17/17 | chrX | 17144472 | ||||||
| chrX:17144565
|
G | C | 1 | a0001c0001t0001g0053 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.1915-2848G>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 17/17 | chrX | 17144565 | ||||||
| chrX:17144868
|
C | T | 1 | a0001c0001t0001g0087 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.1915-2545C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 17/17 | chrX | 17144868 | ||||||
| chrX:17144937
|
T | C | 152 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(149): Show | 152 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(149): Show |
intron_variant | MODIFIER | c.1915-2476T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 17/17 | chrX | 17144937 | ||||||
| chrX:17144980
|
A | G | 85 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(82): Show | 85 | HG00280.hp1 HG00438.hp1 HG00609.hp1 others(82): Show |
intron_variant | MODIFIER | c.1915-2433A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 17/17 | chrX | 17144980 | ||||||
| chrX:17145063
|
G | A | 1 | a0001c0010t0001g0027 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1915-2350G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 17/17 | chrX | 17145063 | ||||||
| chrX:17145612
|
T | G | 152 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(149): Show | 152 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(149): Show |
intron_variant | MODIFIER | c.1915-1801T>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 17/17 | chrX | 17145612 | ||||||
| chrX:17145818
|
C | G | 1 | a0001c0001t0001g0023 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1915-1595C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 17/17 | chrX | 17145818 | ||||||
| chrX:17145905
|
C | G | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1915-1508C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 17/17 | chrX | 17145905 | ||||||
| chrX:17145981
|
C | T | 156 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(153): Show | 156 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(153): Show |
intron_variant | MODIFIER | c.1915-1432C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 17/17 | chrX | 17145981 | ||||||
| chrX:17146001
|
T | C | 156 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(153): Show | 156 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(153): Show |
intron_variant | MODIFIER | c.1915-1412T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 17/17 | chrX | 17146001 | ||||||
| chrX:17146057
|
C | T | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0002g0125others(1): Show | 4 | HG02572.hp1 HG03139.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.1915-1356C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 17/17 | chrX | 17146057 | ||||||
| chrX:17146088
|
G | A | 1 | a0001c0001t0006g0132 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1915-1325G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 17/17 | chrX | 17146088 | ||||||
| chrX:17146095
|
T | C | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1915-1318T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 17/17 | chrX | 17146095 | ||||||
| chrX:17146110
|
G | GA | 1 | a0001c0010t0001g0027 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1915-1288dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 17146110 | |||||
| chrX:17146110
|
G | GAA | 4 | a0001c0001t0009g0136a0001c0001t0009g0141a0001c0001t0010g0139others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1915-1289_1915-128 others(6): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 17146110 | |||||
| chrX:17146155
|
G | C | 156 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(153): Show | 156 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(153): Show |
intron_variant | MODIFIER | c.1915-1258G>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 17/17 | chrX | 17146155 | ||||||
| chrX:17146198
|
G | A | 1 | a0001c0001t0003g0009 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.1915-1215G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 17/17 | chrX | 17146198 | ||||||
| chrX:17146989
|
A | G | 1 | a0001c0001t0002g0123 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.1915-424A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 17/17 | chrX | 17146989 | ||||||
| chrX:17147051
|
C | T | 1 | a0001c0001t0002g0116 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.1915-362C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 17/17 | chrX | 17147051 |