Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| 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 | 165 | 38 | 27 | 64 | 7 | 27 | 47 | REPS2_chrX_16941658_17158272 | REPS2 | MEAAA others(655): Show |
chrX | 16941658 | 17158272 |
| a0002 | 0/0 | 660 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | MEAAA others(655): Show |
chrX | 16941658 | 17158272 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 1980 | 163 | 37 | 26 | 64 | 7 | 27 | REPS2_chrX_16941658_17158272 | REPS2 | ATGGA others(1975): Show |
chrX | 16941658 | 17158272 | ||
| a0001c0002 | 0/0 | 1980 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | ATGGA others(1975): Show |
chrX | 16941658 | 17158272 | ||
| a0001c0004 | 0/0 | 1980 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | ATGGA others(1975): Show |
chrX | 16941658 | 17158272 | ||
| a0002c0003 | 0/0 | 1980 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | ATGGA others(1975): Show |
chrX | 16941658 | 17158272 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 7978 | 78 | 15 | 12 | 42 | 3 | 6 | REPS2_chrX_16941658_17158272 | REPS2 | AACAT others(7973): Show |
chrX | 16941658 | 17158272 |
| a0001c0001t0002 | 0/0 | 7978 | 35 | 0 | 4 | 14 | 1 | 16 | REPS2_chrX_16941658_17158272 | REPS2 | AACAT others(7973): Show |
chrX | 16941658 | 17158272 |
| a0001c0001t0003 | 1/0 | 7978 | 10 | 2 | 1 | 1 | 2 | 3 | REPS2_chrX_16941658_17158272 | REPS2 | AACAT others(7973): Show |
chrX | 16941658 | 17158272 |
| a0001c0001t0004 | 0/0 | 7978 | 9 | 7 | 2 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | AACAT others(7973): Show |
chrX | 16941658 | 17158272 |
| a0001c0001t0005 | 0/0 | 7978 | 9 | 0 | 3 | 3 | 1 | 2 | REPS2_chrX_16941658_17158272 | REPS2 | AACAT others(7973): Show |
chrX | 16941658 | 17158272 |
| a0001c0001t0006 | 0/0 | 7990 | 3 | 2 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | AACAT others(7985): Show |
chrX | 16941658 | 17158272 |
| a0001c0001t0007 | 0/0 | 7978 | 2 | 1 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | AACAT others(7973): Show |
chrX | 16941658 | 17158272 |
| a0001c0001t0008 | 0/0 | 7978 | 2 | 2 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | AACAT others(7973): Show |
chrX | 16941658 | 17158272 |
| a0001c0001t0009 | 0/0 | 7999 | 2 | 2 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | AACAT others(7994): Show |
chrX | 16941658 | 17158272 |
| a0001c0001t0010 | 0/0 | 7999 | 2 | 2 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | AACAT others(7994): Show |
chrX | 16941658 | 17158272 |
| a0001c0001t0011 | 0/0 | 7963 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | AACAT others(7958): Show |
chrX | 16941658 | 17158272 |
| a0001c0001t0012 | 0/0 | 7978 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | AACAT others(7973): Show |
chrX | 16941658 | 17158272 |
| a0001c0001t0013 | 0/0 | 7978 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | AACAT others(7973): Show |
chrX | 16941658 | 17158272 |
| a0001c0001t0014 | 0/0 | 7978 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | AACAT others(7973): Show |
chrX | 16941658 | 17158272 |
| a0001c0001t0015 | 0/0 | 7978 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | AACAT others(7973): Show |
chrX | 16941658 | 17158272 |
| a0001c0001t0016 | 0/0 | 7978 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | AACAT others(7973): Show |
chrX | 16941658 | 17158272 |
| a0001c0001t0017 | 0/0 | 7978 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | AACAT others(7973): Show |
chrX | 16941658 | 17158272 |
| a0001c0001t0018 | 0/0 | 7978 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | AACAT others(7973): Show |
chrX | 16941658 | 17158272 |
| a0001c0001t0019 | 0/0 | 7978 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | AACAT others(7973): Show |
chrX | 16941658 | 17158272 |
| a0001c0001t0020 | 0/1 | 7978 | 1 | 0 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | AACAT others(7973): Show |
chrX | 16941658 | 17158272 |
| a0001c0001t0021 | 0/0 | 7996 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | AACAT others(7991): Show |
chrX | 16941658 | 17158272 |
| a0001c0002t0001 | 0/0 | 7978 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | AACAT others(7973): Show |
chrX | 16941658 | 17158272 |
| a0001c0004t0001 | 0/0 | 7978 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | AACAT others(7973): Show |
chrX | 16941658 | 17158272 |
| a0002c0003t0001 | 0/0 | 7978 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | AACAT others(7973): Show |
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 |
| a0001c0001t0001g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0026 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0033 | 0/0 | 1 | 0 | 0 | 1 | 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 |
| a0001c0001t0001g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0037 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0038 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0051 | 0/0 | 1 | 0 | 0 | 1 | 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 | 0 | 1 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0055 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0056 | 0/0 | 1 | 0 | 1 | 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 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0062 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | 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 |
| a0001c0001t0001g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0075 | 0/0 | 1 | 0 | 0 | 1 | 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 |
| a0001c0001t0001g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0081 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0084 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0085 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0086 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0088 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0125 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0140 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | 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 | 1 | 0 | 0 | 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 |
| a0001c0001t0001g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0149 | 0/0 | 1 | 0 | 1 | 0 | 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 |
| a0001c0001t0001g0151 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0001g0152 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | 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 |
| a0001c0001t0001g0156 | 0/0 | 1 | 0 | 0 | 1 | 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 | 0 | 0 | 1 | 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 |
| 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 |
| a0001c0001t0002g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0040 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0090 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0091 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0093 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0097 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0098 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0099 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0100 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0101 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0102 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0103 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0104 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | 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 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0107 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0109 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0110 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | 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 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0002g0135 | 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 |
| a0001c0001t0003g0006 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0003g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0003g0008 | 0/0 | 1 | 0 | 0 | 0 | 1 | 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 |
| a0001c0001t0003g0013 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0004g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0004g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0004g0120 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0004g0121 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0004g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0004g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0004g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0004g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0004g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0005g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0005g0069 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0005g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0005g0071 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0005g0077 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0005g0079 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0005g0082 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0005g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0005g0136 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0006g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0006g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0006g0118 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0007g0161 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0007g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0008g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0008g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0009g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0009g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0010g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0010g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0011g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0012g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0013g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0014g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0015g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0016g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0017g0050 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0018g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0019g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0020g0134 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0001t0021g0119 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0002t0001g0072 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0001c0004t0001g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| a0002c0003t0001g0063 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | 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 | g0008 | EUR | GBR | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG00280 | hp1 | a0001 | c0001 | t0005 | g0071 | 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 | g0025 | EAS | CHS | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG00609 | hp1 | a0001 | c0001 | t0001 | g0060 | EAS | CHS | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG00621 | hp1 | a0001 | c0001 | t0002 | g0108 | EAS | CHS | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG00642 | hp1 | a0001 | c0001 | t0001 | g0084 | AMR | PUR | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG00673 | hp1 | a0001 | c0001 | t0001 | g0061 | EAS | CHS | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG00735 | hp1 | a0001 | c0001 | t0005 | g0082 | AMR | PUR | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG00735 | hp2 | a0001 | c0001 | t0001 | g0085 | AMR | PUR | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG00738 | hp1 | a0001 | c0001 | t0001 | g0038 | AMR | PUR | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG01069 | hp1 | a0001 | c0001 | t0004 | g0120 | AMR | PUR | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG01071 | hp1 | a0001 | c0001 | t0004 | g0121 | AMR | PUR | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG01071 | hp2 | a0001 | c0001 | t0001 | g0064 | AMR | PUR | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG01074 | hp1 | a0001 | c0001 | t0002 | g0102 | AMR | PUR | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG01099 | hp1 | a0001 | c0001 | t0001 | g0056 | AMR | PUR | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG01106 | hp1 | a0001 | c0001 | t0007 | g0161 | AMR | PUR | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG01109 | hp1 | a0001 | c0001 | t0001 | g0088 | 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 | c0002 | t0001 | g0072 | AMR | PUR | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG01243 | hp1 | a0001 | c0001 | t0001 | g0086 | AMR | PUR | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG01255 | hp1 | a0001 | c0001 | t0017 | g0050 | AMR | CLM | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG01256 | hp1 | a0001 | c0001 | t0018 | g0057 | 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 | g0079 | AMR | CLM | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG01358 | hp1 | a0001 | c0001 | t0005 | g0077 | AMR | CLM | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG01433 | hp1 | a0001 | c0001 | t0002 | g0090 | AMR | CLM | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG01515 | hp1 | a0001 | c0001 | t0001 | g0055 | EUR | IBS | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG01517 | hp1 | a0001 | c0001 | t0001 | g0054 | 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 | g0149 | AMR | PEL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG01934 | hp1 | a0001 | c0001 | t0001 | g0073 | AMR | PEL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG01943 | hp1 | a0001 | c0001 | t0001 | g0037 | AMR | PEL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG01952 | hp1 | a0001 | c0001 | t0001 | g0151 | 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 | g0157 | EAS | KHV | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02040 | hp1 | a0001 | c0001 | t0002 | g0068 | EAS | KHV | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02055 | hp1 | a0001 | c0001 | t0001 | g0126 | AFR | ACB | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02056 | hp1 | a0001 | c0001 | t0001 | g0049 | EAS | KHV | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02071 | hp1 | a0001 | c0001 | t0005 | g0087 | EAS | KHV | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02074 | hp1 | a0001 | c0001 | t0001 | g0076 | EAS | KHV | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02083 | hp1 | a0001 | c0001 | t0005 | g0070 | EAS | KHV | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02129 | hp1 | a0001 | c0001 | t0001 | g0159 | EAS | KHV | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02132 | hp1 | a0001 | c0001 | t0001 | g0036 | EAS | KHV | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02135 | hp1 | a0001 | c0001 | t0001 | g0083 | EAS | KHV | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02145 | hp1 | a0001 | c0001 | t0004 | g0131 | AFR | ACB | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02257 | hp1 | a0001 | c0001 | t0003 | g0007 | AFR | ACB | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02257 | hp2 | a0001 | c0001 | t0001 | g0132 | AFR | ACB | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02258 | hp1 | a0001 | c0001 | t0010 | g0138 | AFR | ACB | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02293 | hp1 | a0001 | c0001 | t0006 | g0118 | 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 | g0040 | AMR | PEL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02572 | hp1 | a0001 | c0001 | t0015 | g0021 | AFR | GWD | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02602 | hp1 | a0001 | c0001 | t0002 | g0103 | SAS | PJL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02647 | hp1 | a0001 | c0001 | t0001 | g0059 | AFR | GWD | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02698 | hp1 | a0001 | c0001 | t0001 | g0152 | SAS | PJL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02717 | hp1 | a0001 | c0001 | t0006 | g0117 | AFR | GWD | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02723 | hp1 | a0001 | c0001 | t0004 | g0130 | AFR | GWD | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02723 | hp2 | a0001 | c0001 | t0007 | g0162 | AFR | GWD | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02735 | hp1 | a0001 | c0001 | t0002 | g0097 | SAS | PJL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02738 | hp1 | a0001 | c0001 | t0002 | g0110 | SAS | PJL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02886 | hp1 | a0001 | c0001 | t0001 | g0019 | AFR | GWD | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02886 | hp2 | a0001 | c0001 | t0019 | g0020 | AFR | GWD | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02895 | hp1 | a0001 | c0001 | t0004 | g0028 | AFR | GWD | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02922 | hp1 | a0001 | c0001 | t0013 | g0023 | AFR | ESN | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02922 | hp2 | a0001 | c0001 | t0009 | g0115 | AFR | ESN | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02965 | hp1 | a0001 | c0001 | t0001 | g0125 | AFR | ESN | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03017 | hp1 | a0001 | c0001 | t0005 | g0069 | SAS | PJL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03098 | hp1 | a0001 | c0001 | t0008 | g0022 | AFR | MSL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03130 | hp1 | a0001 | c0001 | t0004 | g0133 | AFR | ESN | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03139 | hp1 | a0001 | c0001 | t0001 | g0123 | AFR | ESN | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03209 | hp1 | a0001 | c0001 | t0008 | g0018 | AFR | MSL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03225 | hp1 | a0001 | c0001 | t0004 | g0089 | AFR | MSL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03239 | hp1 | a0001 | c0001 | t0001 | g0081 | SAS | PJL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03239 | hp2 | a0001 | c0001 | t0002 | g0111 | SAS | PJL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03453 | hp1 | a0001 | c0004 | t0001 | g0114 | AFR | MSL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03453 | hp2 | a0001 | c0001 | t0004 | g0127 | AFR | MSL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03486 | hp1 | a0001 | c0001 | t0021 | g0119 | AFR | MSL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03486 | hp2 | a0001 | c0001 | t0001 | g0027 | AFR | MSL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03490 | hp1 | a0001 | c0001 | t0002 | g0112 | SAS | PJL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03491 | hp1 | a0001 | c0001 | t0005 | g0136 | 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 | g0135 | SAS | PJL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03516 | hp1 | a0001 | c0001 | t0009 | g0139 | AFR | ESN | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03516 | hp2 | a0001 | c0001 | t0001 | g0029 | AFR | ESN | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03579 | hp1 | a0001 | c0001 | t0001 | g0080 | AFR | MSL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03654 | hp1 | a0001 | c0001 | t0002 | g0109 | 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 | g0105 | SAS | PJL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03688 | hp1 | a0001 | c0001 | t0001 | g0140 | SAS | STU | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03704 | hp1 | a0002 | c0003 | t0001 | g0063 | SAS | PJL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03704 | hp2 | a0001 | c0001 | t0002 | g0099 | SAS | PJL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03710 | hp1 | a0001 | c0001 | t0002 | g0101 | SAS | PJL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03831 | hp1 | a0001 | c0001 | t0001 | g0026 | 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 | t0002 | g0104 | SAS | BEB | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03927 | hp2 | a0001 | c0001 | t0003 | g0013 | SAS | BEB | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03942 | hp1 | a0001 | c0001 | t0002 | g0091 | SAS | BEB | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG04115 | hp1 | a0001 | c0001 | t0001 | g0158 | SAS | STU | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG04199 | hp1 | a0001 | c0001 | t0001 | g0062 | SAS | STU | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG04204 | hp1 | a0001 | c0001 | t0002 | g0093 | SAS | STU | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG04228 | hp1 | a0001 | c0001 | t0002 | g0107 | SAS | STU | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA18522 | hp1 | a0001 | c0001 | t0001 | g0122 | AFR | YRI | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA18612 | hp1 | a0001 | c0001 | t0001 | g0035 | EAS | CHB | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA18747 | hp1 | a0001 | c0001 | t0002 | g0067 | EAS | CHB | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA18943 | hp1 | a0001 | c0001 | t0001 | g0058 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA18944 | hp1 | a0001 | c0001 | t0001 | g0033 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA18945 | hp1 | a0001 | c0001 | t0001 | g0154 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA18946 | hp1 | a0001 | c0001 | t0002 | g0078 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA18946 | hp2 | a0001 | c0001 | t0014 | g0113 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA18948 | hp1 | a0001 | c0001 | t0001 | g0074 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA18952 | hp1 | a0001 | c0001 | t0001 | g0032 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA18959 | hp1 | a0001 | c0001 | t0001 | g0046 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA18960 | hp1 | a0001 | c0001 | t0002 | g0095 | 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 | g0160 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA18967 | hp1 | a0001 | c0001 | t0001 | g0052 | 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 | t0011 | g0031 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA18983 | hp1 | a0001 | c0001 | t0001 | g0047 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA18989 | hp1 | a0001 | c0001 | t0001 | g0146 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA18990 | hp1 | a0001 | c0001 | t0005 | g0066 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA18994 | hp1 | a0001 | c0001 | t0001 | g0043 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA18995 | hp1 | a0001 | c0001 | t0001 | g0075 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA18998 | hp1 | a0001 | c0001 | t0002 | g0096 | 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 | g0156 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA19005 | hp1 | a0001 | c0001 | t0001 | g0153 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA19006 | hp1 | a0001 | c0001 | t0001 | g0051 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA19007 | hp1 | a0001 | c0001 | t0001 | g0034 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA19009 | hp1 | a0001 | c0001 | t0001 | g0045 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA19012 | hp1 | a0001 | c0001 | t0016 | g0155 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA19030 | hp1 | a0001 | c0001 | t0001 | g0024 | AFR | LWK | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA19030 | hp2 | a0001 | c0001 | t0006 | g0116 | AFR | LWK | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA19043 | hp1 | a0001 | c0001 | t0001 | g0039 | AFR | LWK | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA19056 | hp1 | a0001 | c0001 | t0001 | g0065 | 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 | g0044 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA19058 | hp1 | a0001 | c0001 | t0002 | g0106 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA19060 | hp1 | a0001 | c0001 | t0001 | g0145 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA19062 | hp1 | a0001 | c0001 | t0001 | g0141 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA19063 | hp1 | a0001 | c0001 | t0001 | g0030 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA19066 | hp1 | a0001 | c0001 | t0002 | g0092 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA19068 | hp1 | a0001 | c0001 | t0001 | g0147 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA19070 | hp1 | a0001 | c0001 | t0002 | g0094 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA19072 | hp1 | a0001 | c0001 | t0001 | 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 | t0012 | g0014 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA19085 | hp1 | a0001 | c0001 | t0001 | g0042 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA19088 | hp1 | a0001 | c0001 | t0001 | g0048 | EAS | JPT | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA19089 | hp1 | a0001 | c0001 | t0001 | g0142 | 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 | g0100 | EUR | TSI | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| NA20905 | hp1 | a0001 | c0001 | t0002 | g0098 | SAS | GIH | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG02109 | hp1 | a0001 | c0001 | t0004 | g0128 | 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 | g0041 | AFR | ACB | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG03471 | hp1 | a0001 | c0001 | t0001 | g0129 | AFR | MSL | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG06807 | hp1 | a0001 | c0001 | t0010 | g0137 | AFR | USA | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| HG06807 | hp2 | a0001 | c0001 | t0001 | g0124 | 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 | a0001 | c0001 | t0020 | g0134 | REF | REF | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| homoSapiens | grch38p0 | a0001 | c0001 | t0003 | g0006 | REF | REF | REPS2_chrX_16941658_17158272 | REPS2 | chrX | 16941658 | 17158272 |
| view | 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 |
| view | 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 | a0001c0004 | 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 | a0001c0002 | 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 |
| view | 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:16946732 | TGGTGGTG others(8): Show |
T | 1 | a0001c0001t0011 | 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 | a0001c0001t0002 | 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 | 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 | a0001c0001t0021 | 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 | a0001c0001t0009 a0001c0001t0010 |
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 | 16 | a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(13): Show |
144 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(141): 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 | a0001c0001t0013 | 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: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 | 20 | a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(17): Show |
151 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(148): 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 | 1 | a0001c0001t0005 | 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 | a0001c0001t0009 a0001c0001t0010 |
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 | a0001c0001t0011 | 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 | 2 | a0001c0001t0002 a0001c0001t0012 |
36 | HG00438.hp2 HG00621.hp1 HG01074.hp1 others(33): 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 | a0001c0001t0019 | 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 | a0001c0001t0009 a0001c0001t0010 |
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 | a0001c0001t0014 | 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 | a0001c0001t0011 | 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:17151880 | T | G | 1 | a0001c0001t0015 | 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 | a0001c0001t0018 | 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 | a0001c0001t0016 | 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 | a0001c0001t0017 | 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 | a0001c0001t0009 a0001c0001t0010 |
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:17152828 | C | G | 2 | a0001c0001t0006 a0001c0001t0021 |
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 | a0001c0001t0009 a0001c0001t0010 |
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 | 3 | a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 |
45 | HG00438.hp2 HG00621.hp1 HG01069.hp1 others(42): 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 | a0001c0001t0009 a0001c0001t0010 |
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 |
| view | 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 | a0001c0001t0001g0165 a0001c0001t0001g0166 |
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 | 151 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(148): Show |
151 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(148): 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:16949847 | TAG | T | 2 | a0001c0001t0007g0161 a0001c0001t0007g0162 |
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 | 154 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(151): Show |
154 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(151): 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 | a0001c0001t0008g0018 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.273+2769T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16949903 | |||||||
| chrX:16950782 | C | T | 21 | a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 others(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 | a0001c0001t0001g0019 | 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 | a0001c0001t0019g0020 | 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 | a0001c0001t0001g0024 a0001c0001t0001g0140 a0001c0001t0008g0018 others(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 | a0001c0001t0003g0005 a0001c0001t0007g0161 a0001c0001t0008g0022 others(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 | 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 | a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0003g0007 others(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 | a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 others(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 | a0001c0001t0001g0129 a0001c0001t0004g0130 a0001c0001t0007g0162 |
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 | a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0004g0131 others(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 | a0001c0001t0001g0132 a0001c0001t0004g0133 |
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 | a0001c0001t0002g0135 a0001c0001t0005g0136 a0001c0001t0009g0139 others(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 | a0001c0001t0009g0115 | 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 | a0001c0001t0006g0117 a0001c0001t0006g0118 a0001c0001t0021g0119 |
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 | a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0006g0116 |
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 | a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0151 others(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 | a0001c0001t0002g0092 | 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 | a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 others(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 | 17 | a0001c0001t0001g0019 a0001c0001t0002g0015 a0001c0001t0002g0016 others(14): Show |
17 | HG01433.hp1 HG02735.hp1 HG02738.hp1 others(14): 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 | a0001c0001t0001g0059 a0001c0001t0001g0149 |
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 | a0001c0001t0002g0091 a0001c0001t0002g0096 a0001c0001t0002g0103 others(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 | a0001c0001t0002g0099 | 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 | a0001c0001t0001g0041 a0001c0001t0001g0141 |
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 | a0001c0001t0002g0025 a0001c0001t0002g0101 a0001c0001t0002g0102 |
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:16951552 | CACACACA | C | 3 | a0001c0001t0001g0056 a0001c0001t0001g0166 a0001c0001t0017g0050 |
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 | a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0064 others(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 | CACACA | C | 3 | a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0052 |
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 | a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0158 others(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:16951556 | CACA | C | 2 | a0001c0001t0001g0043 a0001c0001t0001g0044 |
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 | ACAC | A | 3 | a0001c0001t0001g0002 a0001c0001t0001g0034 a0001c0001t0001g0065 |
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 | a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0075 |
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 | a0001c0001t0001g0026 a0001c0001t0001g0038 a0001c0001t0001g0046 others(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 | a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0061 others(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 | ACACACAC | 5 | a0001c0001t0001g0030 a0001c0001t0001g0051 a0001c0001t0001g0054 others(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 | a0001c0001t0011g0031 | 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 | a0001c0001t0001g0049 | 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 | a0001c0001t0001g0036 a0001c0001t0018g0057 |
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 | a0001c0004t0001g0114 | 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 | a0001c0001t0005g0070 | 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 | a0001c0001t0001g0060 a0001c0001t0005g0077 a0001c0001t0005g0079 |
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 | a0001c0001t0001g0062 a0001c0001t0001g0074 a0001c0001t0005g0066 |
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 | ACACCC | 3 | a0001c0001t0002g0078 a0001c0001t0005g0069 a0001c0001t0005g0082 |
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 | C | 4 | a0001c0001t0001g0088 a0001c0001t0001g0165 a0001c0001t0002g0003 others(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:16951561 | C | A | 1 | a0001c0001t0001g0140 | 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 | a0001c0001t0002g0025 | 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 | a0001c0001t0007g0161 a0001c0001t0007g0162 |
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 | a0001c0001t0006g0116 a0001c0001t0006g0117 a0001c0001t0006g0118 others(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 | a0001c0004t0001g0114 | 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 | a0001c0004t0001g0114 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.273+5222C>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16952356 | |||||||
| chrX:16952596 | C | T | 2 | a0001c0001t0007g0161 a0001c0001t0007g0162 |
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:16952734 | T | A | 1 | a0001c0001t0001g0026 | 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 | a0001c0001t0014g0113 | 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:16953100 | AAC | A | 3 | a0001c0001t0001g0132 a0001c0001t0003g0008 a0001c0001t0003g0011 |
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 | AACACAC | A | 2 | a0001c0001t0007g0161 a0001c0001t0019g0020 |
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(3): Show |
A | 3 | a0001c0001t0006g0117 a0001c0001t0006g0118 a0001c0001t0021g0119 |
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 | a0001c0001t0001g0027 a0001c0001t0002g0096 a0001c0001t0002g0110 others(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 | 55 | a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0029 others(52): Show |
55 | HG00438.hp2 HG00621.hp1 HG00738.hp1 others(52): 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 | a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0030 others(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 | a0001c0001t0001g0002 a0001c0001t0001g0032 a0001c0001t0001g0033 others(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 | a0001c0001t0001g0086 | 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:16954184 | C | A | 1 | a0001c0001t0001g0027 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.273+7050C>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16954184 | |||||||
| chrX:16954393 | A | G | 8 | a0001c0001t0006g0116 a0001c0001t0006g0117 a0001c0001t0006g0118 others(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 | a0001c0001t0001g0140 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.273+7307C>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16954441 | |||||||
| chrX:16954739 | C | G | 1 | a0001c0001t0002g0112 | 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 | a0001c0001t0001g0027 a0001c0001t0003g0004 a0001c0001t0003g0009 others(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 | 25 | a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 others(22): Show |
25 | HG00438.hp2 HG01074.hp1 HG01433.hp1 others(22): 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 | a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 others(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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0026 others(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:16955345 | C | G | 1 | a0001c0001t0001g0088 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.273+8211C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16955345 | |||||||
| chrX:16956121 | C | G | 2 | a0001c0001t0007g0161 a0001c0001t0007g0162 |
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 | 52 | a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0027 others(49): Show |
52 | HG00438.hp2 HG00621.hp1 HG01069.hp1 others(49): Show |
intron_variant | MODIFIER | c.273+9078delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16956197 | ||||||
| chrX:16956284 | GTTTTTT | G | 5 | a0001c0001t0001g0140 a0001c0001t0001g0158 a0001c0001t0001g0166 others(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 | a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0073 others(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 | 101 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(98): Show |
101 | HG00280.hp1 HG00438.hp1 HG00609.hp1 others(98): 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 | a0001c0001t0001g0030 a0001c0001t0001g0129 a0001c0001t0001g0142 others(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 | a0001c0001t0006g0116 a0001c0001t0006g0117 a0001c0001t0006g0118 others(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 | a0001c0001t0015g0021 | 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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0001g0152 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0030 others(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:16957775 | C | T | 2 | a0001c0001t0001g0024 a0001c0001t0001g0029 |
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 | 55 | a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0027 others(52): Show |
55 | HG00438.hp2 HG00621.hp1 HG01069.hp1 others(52): Show |
intron_variant | MODIFIER | c.273+12429G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16959563 | |||||||
| chrX:16960131 | A | G | 89 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0026 others(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 | a0001c0001t0002g0107 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0026 others(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 | a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0015g0021 |
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 | a0001c0001t0007g0161 a0001c0001t0007g0162 |
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 | 144 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(141): Show |
144 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(141): 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 | a0001c0001t0005g0087 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0026 others(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 | a0001c0001t0011g0031 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0032 a0001c0001t0001g0033 others(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 | a0001c0001t0001g0065 | 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 | a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0036 others(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 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0159 others(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 | TACACACA others(3): Show |
1 | a0001c0001t0005g0066 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0026 a0001c0001t0001g0034 others(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 | 34 | a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 others(31): Show |
34 | HG00438.hp2 HG00609.hp1 HG00621.hp1 others(31): 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 | a0001c0001t0001g0019 a0001c0001t0001g0029 a0001c0001t0001g0035 others(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 | a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0006g0117 others(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 | a0001c0001t0002g0107 | 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 | a0001c0001t0001g0024 a0001c0001t0001g0132 |
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:16962533 | A | G | 26 | a0001c0001t0001g0041 a0001c0001t0001g0059 a0001c0001t0001g0062 others(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 | 154 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(151): Show |
154 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(151): Show |
intron_variant | MODIFIER | c.273+15897A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16963031 | |||||||
| chrX:16963556 | T | C | 13 | a0001c0001t0001g0062 a0001c0001t0002g0003 a0001c0001t0002g0067 others(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 | a0001c0001t0012g0014 | 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 | a0001c0001t0002g0091 | 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 | a0001c0001t0001g0041 a0001c0001t0009g0115 a0001c0001t0009g0139 others(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 | a0001c0001t0007g0161 a0001c0001t0007g0162 |
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 | 154 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(151): Show |
154 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(151): 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 | a0001c0001t0004g0120 a0001c0001t0004g0121 |
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 | 154 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(151): Show |
154 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(151): 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 | a0001c0001t0005g0077 | 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 | a0001c0001t0005g0077 | 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 | a0001c0001t0005g0077 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.273+17517A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16964651 | |||||||
| chrX:16964662 | AC | A | 9 | a0001c0001t0005g0077 a0001c0001t0006g0116 a0001c0001t0006g0117 others(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 | a0001c0001t0001g0058 | 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 | a0001c0001t0005g0077 | 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 | a0001c0001t0005g0077 | 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 | a0001c0001t0010g0138 | 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 | a0001c0001t0005g0077 | 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 | a0001c0001t0005g0077 | 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 | a0001c0001t0005g0077 | 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 | 55 | a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0027 others(52): Show |
55 | HG00438.hp2 HG00621.hp1 HG01069.hp1 others(52): Show |
intron_variant | MODIFIER | c.273+17663dupC | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16964790 | ||||||
| chrX:16964795 | C | G | 1 | a0001c0001t0005g0077 | 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 | a0001c0001t0005g0077 | 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 | 154 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(151): Show |
154 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(151): 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 | a0001c0001t0002g0099 | 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 | a0001c0001t0005g0077 | 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 | a0001c0001t0005g0077 | 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 | a0001c0001t0005g0077 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.273+17773T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16964907 | |||||||
| chrX:16964922 | G | C | 1 | a0001c0001t0005g0077 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.273+17788G>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16964922 | |||||||
| chrX:16964940 | G | GGGGCGGC others(119): Show |
154 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(151): Show |
154 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(151): 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 | a0001c0001t0001g0026 a0001c0001t0002g0104 a0001c0001t0002g0110 |
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 | a0001c0001t0001g0146 | 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 | a0001c0001t0013g0023 | 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 | a0001c0001t0002g0098 | 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 | a0001c0001t0001g0032 | 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 | a0001c0001t0013g0023 | 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 | a0001c0001t0001g0038 a0001c0001t0001g0073 a0001c0001t0001g0081 others(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 | a0001c0001t0013g0023 | 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 | a0001c0001t0001g0124 | 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 | a0001c0001t0013g0023 | 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 | 163 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(160): Show |
163 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(160): Show |
intron_variant | MODIFIER | c.273+17889G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16965023 | |||||||
| chrX:16965031 | G | GGGCGGGG others(95): Show |
1 | a0001c0001t0013g0023 | 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:16965116 | G | A | 4 | a0001c0001t0001g0062 a0001c0001t0001g0140 a0001c0001t0001g0143 others(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:16965155 | C | T | 2 | a0001c0001t0007g0161 a0001c0001t0007g0162 |
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 | a0001c0001t0008g0018 a0001c0001t0008g0022 |
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 | a0001c0001t0002g0078 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.273+18113C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16965247 | |||||||
| chrX:16965340 | C | T | 4 | a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0008g0018 others(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:16965486 | G | A | 1 | a0001c0001t0002g0078 | 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 | a0001c0001t0007g0161 a0001c0001t0007g0162 |
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 | a0001c0001t0007g0161 a0001c0001t0007g0162 |
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 | a0001c0001t0001g0056 | 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 | 154 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(151): Show |
154 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(151): 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 | a0001c0001t0002g0106 | 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 | a0001c0001t0021g0119 | 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 | a0001c0001t0006g0116 a0001c0001t0006g0117 a0001c0001t0006g0118 others(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 | a0001c0001t0001g0129 | 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 | 144 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(141): Show |
144 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(141): Show |
intron_variant | MODIFIER | c.273+20280G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16967414 | |||||||
| chrX:16967460 | G | T | 25 | a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 others(22): Show |
25 | HG00438.hp2 HG00621.hp1 HG01074.hp1 others(22): 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:16968168 | A | C | 2 | a0001c0001t0001g0054 a0001c0001t0001g0055 |
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 | a0001c0001t0007g0161 | 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 | a0001c0001t0005g0069 a0001c0001t0005g0071 a0001c0001t0005g0077 |
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 | a0001c0001t0001g0085 | 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 | a0001c0001t0001g0083 | 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 | a0001c0001t0001g0152 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.273+21368G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16968502 | |||||||
| chrX:16968540 | C | T | 1 | a0001c0001t0001g0152 | 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 | a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0122 others(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 | a0001c0001t0001g0041 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.273+21535A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16968669 | |||||||
| chrX:16968706 | C | A | 1 | a0001c0001t0001g0152 | 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 | a0001c0001t0009g0115 a0001c0001t0009g0139 |
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 | 154 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(151): Show |
154 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(151): Show |
intron_variant | MODIFIER | c.273+21771T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16968905 | |||||||
| chrX:16968974 | C | A | 1 | a0001c0001t0001g0062 | 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 | a0001c0001t0005g0082 | 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 | a0001c0001t0008g0018 | 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 | a0001c0001t0001g0073 | 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 | a0001c0001t0001g0058 | 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 | a0001c0001t0004g0028 a0001c0001t0004g0120 a0001c0001t0004g0121 others(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: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 | 153 | a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0024 others(150): Show |
153 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(150): 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 | a0001c0001t0001g0002 a0001c0001t0001g0035 |
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 | a0001c0001t0001g0027 | 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 | a0001c0001t0002g0078 a0001c0001t0003g0005 |
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 | a0001c0001t0007g0161 a0001c0001t0007g0162 |
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 | a0001c0001t0001g0041 a0001c0001t0001g0059 a0001c0001t0001g0062 others(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:16970197 | C | CT | 6 | a0001c0001t0001g0052 a0001c0001t0001g0075 a0001c0001t0001g0150 others(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: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 | a0001c0001t0006g0116 a0001c0001t0006g0117 a0001c0001t0006g0118 others(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 | a0001c0001t0021g0119 | 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 | a0001c0001t0001g0037 a0001c0001t0001g0056 a0001c0001t0002g0040 |
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 | a0001c0001t0002g0101 | 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 | a0001c0001t0001g0051 | 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 | a0001c0001t0001g0039 | 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 | a0002c0003t0001g0063 | 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 | a0001c0001t0006g0116 a0001c0001t0006g0117 a0001c0001t0006g0118 others(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 | 144 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(141): Show |
144 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(141): 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 | a0001c0001t0002g0110 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.273+27436G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16974570 | |||||||
| chrX:16975535 | G | A | 1 | a0001c0001t0002g0093 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.273+28401G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16975535 | |||||||
| chrX:16975855 | A | G | 2 | a0001c0001t0001g0059 a0001c0001t0001g0064 |
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 | 54 | a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0027 others(51): Show |
54 | HG00438.hp2 HG00621.hp1 HG01069.hp1 others(51): Show |
intron_variant | MODIFIER | c.273+29298T>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16976432 | |||||||
| chrX:16977025 | G | A | 154 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(151): Show |
154 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(151): 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 | a0001c0001t0006g0116 a0001c0001t0006g0117 |
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:16977499 | G | C | 144 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(141): Show |
144 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(141): 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 | a0001c0001t0006g0118 | 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 | a0001c0001t0006g0116 a0001c0001t0006g0117 a0001c0001t0006g0118 others(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 | 154 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(151): Show |
154 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(151): 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 | a0001c0001t0001g0002 a0001c0001t0001g0032 a0001c0001t0001g0033 others(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 | 155 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(152): Show |
155 | HG00140.hp1 HG00280.hp1 HG00438.hp2 others(152): 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 | a0001c0001t0005g0079 | 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 | 3 | a0001c0001t0002g0097 a0001c0001t0002g0100 a0001c0001t0002g0102 |
3 | HG01074.hp1 HG02735.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.274-28164A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16978057 | |||||||
| chrX:16978756 | C | T | 1 | a0001c0001t0001g0086 | 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 | a0001c0001t0001g0145 a0001c0001t0001g0154 a0001c0001t0001g0159 |
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 | a0001c0001t0001g0027 a0001c0001t0001g0080 a0001c0001t0001g0124 others(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:16979979 | C | T | 1 | a0001c0001t0001g0086 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.274-26242C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16979979 | |||||||
| chrX:16980522 | C | T | 1 | a0001c0001t0001g0132 | 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 | a0001c0001t0001g0156 a0001c0001t0001g0160 |
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 | a0001c0001t0007g0161 a0001c0001t0007g0162 |
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:16981227 | A | G | 2 | a0001c0001t0007g0161 a0001c0001t0007g0162 |
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 | a0001c0001t0001g0027 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.274-24739G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16981482 | |||||||
| 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:16982313 | G | A | 2 | a0001c0001t0001g0165 a0001c0001t0001g0166 |
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 | a0001c0001t0001g0061 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0026 others(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 | a0001c0001t0002g0103 | 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 | 55 | a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0027 others(52): Show |
55 | HG00438.hp2 HG00621.hp1 HG01069.hp1 others(52): Show |
intron_variant | MODIFIER | c.274-22412A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16983809 | |||||||
| chrX:16984322 | G | A | 2 | a0001c0001t0008g0018 a0001c0001t0008g0022 |
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 | a0001c0001t0007g0161 a0001c0001t0007g0162 |
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 | a0001c0001t0002g0112 | 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 | a0001c0001t0001g0088 | 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 | a0001c0001t0019g0020 | 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 | 144 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(141): Show |
144 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(141): Show |
intron_variant | MODIFIER | c.274-20607G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16985614 | |||||||
| chrX:16986112 | A | G | 2 | a0001c0001t0007g0161 a0001c0001t0007g0162 |
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 | a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0030 others(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 | a0001c0001t0001g0033 a0001c0001t0001g0034 |
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 | a0001c0001t0005g0082 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.274-19346G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16986875 | |||||||
| chrX:16987920 | G | A | 1 | a0001c0001t0002g0107 | 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 | a0001c0001t0018g0057 | 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 | a0001c0001t0001g0081 | 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 | a0001c0001t0001g0151 | 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 | a0001c0001t0001g0123 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.274-16982A>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16989239 | |||||||
| chrX:16989251 | CA | C | 139 | a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0024 others(136): Show |
139 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(136): Show |
intron_variant | MODIFIER | c.274-16955delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 16989251 | ||||||
| chrX:16990659 | C | T | 1 | a0001c0001t0001g0019 | 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 | a0001c0001t0007g0161 a0001c0001t0007g0162 |
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:16991023 | C | T | 154 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(151): Show |
154 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(151): 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 | a0001c0001t0006g0116 a0001c0001t0006g0117 a0001c0001t0006g0118 others(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 | a0001c0001t0013g0023 | 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 | a0001c0001t0001g0043 | 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 | a0001c0001t0001g0076 | 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 | a0001c0001t0017g0050 | 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 | a0001c0001t0001g0019 | 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 | a0001c0001t0001g0152 | 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 | a0001c0001t0002g0093 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.274-12295C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16993926 | |||||||
| chrX:16994345 | A | T | 8 | a0001c0001t0004g0028 a0001c0001t0004g0120 a0001c0001t0004g0121 others(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 | 60 | a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0080 others(57): Show |
60 | HG00438.hp2 HG00621.hp1 HG01069.hp1 others(57): 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:16994382 | C | T | 88 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0026 others(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 | a0001c0001t0001g0054 a0001c0001t0001g0055 |
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 | a0001c0001t0001g0124 | 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 | 55 | a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0027 others(52): Show |
55 | HG00438.hp2 HG00621.hp1 HG01069.hp1 others(52): 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 | a0001c0001t0007g0162 | 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 | a0001c0001t0007g0161 a0001c0001t0007g0162 |
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 | a0001c0001t0001g0132 | 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 | a0001c0001t0001g0062 a0001c0001t0005g0066 |
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 | a0001c0001t0002g0068 | 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 | a0001c0001t0005g0069 | 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 | a0001c0001t0001g0041 | 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 | a0001c0001t0008g0018 a0001c0001t0008g0022 |
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 | a0001c0001t0001g0041 a0001c0001t0001g0059 a0001c0001t0001g0064 others(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 | a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 |
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 | a0001c0001t0006g0116 | 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 | 160 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(157): Show |
160 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(157): Show |
intron_variant | MODIFIER | c.274-8204A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16998017 | |||||||
| chrX:16998075 | C | T | 8 | a0001c0001t0006g0116 a0001c0001t0006g0117 a0001c0001t0006g0118 others(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 | 154 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(151): Show |
154 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(151): 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 | a0001c0001t0003g0007 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.274-8085A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | chrX | 16998136 | |||||||
| chrX:16998337 | C | T | 1 | a0001c0001t0007g0161 | 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 | a0001c0001t0001g0038 a0001c0001t0001g0049 a0001c0001t0001g0062 others(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 | AT | A | 8 | a0001c0001t0002g0106 a0001c0001t0003g0012 a0001c0001t0004g0120 others(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:16999654 | G | A | 1 | a0001c0001t0019g0020 | 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 | 154 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(151): Show |
154 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(151): 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 | a0001c0001t0007g0161 a0001c0001t0007g0162 |
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 | 55 | a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0027 others(52): Show |
55 | HG00438.hp2 HG00621.hp1 HG01069.hp1 others(52): 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 | a0001c0001t0001g0088 | 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 | a0001c0001t0001g0019 a0001c0001t0001g0029 a0001c0001t0001g0038 others(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 | a0001c0001t0001g0024 a0001c0001t0001g0125 a0001c0001t0001g0126 others(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:17000069 | G | A | 1 | a0001c0001t0001g0058 | 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 | a0001c0001t0007g0161 a0001c0001t0007g0162 |
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 | a0001c0001t0001g0039 | 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 | a0001c0001t0001g0039 | 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 | a0001c0001t0002g0111 | 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 | a0001c0001t0005g0069 a0001c0001t0005g0071 a0001c0001t0005g0077 |
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 | a0001c0001t0011g0031 | 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 | a0001c0001t0001g0062 a0001c0001t0002g0003 a0001c0001t0002g0067 others(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 | a0001c0001t0001g0165 a0001c0001t0001g0166 |
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 | 142 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(139): Show |
142 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(139): 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 | a0001c0001t0001g0129 a0001c0001t0005g0136 a0001c0001t0006g0116 others(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 | a0001c0001t0001g0156 a0001c0001t0001g0160 |
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 | a0001c0001t0001g0151 | 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 | a0001c0001t0006g0116 a0001c0001t0006g0117 a0001c0001t0006g0118 others(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 | 144 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(141): Show |
144 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(141): 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 | a0001c0001t0001g0132 | 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 | a0001c0001t0001g0027 a0001c0001t0001g0080 a0001c0001t0001g0124 others(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 | a0001c0001t0007g0161 a0001c0001t0007g0162 |
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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0026 others(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 | a0001c0001t0002g0003 a0001c0001t0002g0067 a0001c0001t0002g0068 others(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 | 154 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(151): Show |
154 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(151): 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 | a0001c0001t0002g0090 | 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 | a0001c0001t0018g0057 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0026 others(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 | a0001c0001t0001g0073 | 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 | a0001c0001t0010g0138 | 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 | a0001c0001t0002g0108 | 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 | a0001c0001t0002g0135 a0001c0001t0005g0136 |
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 | a0001c0001t0001g0124 | 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 | a0001c0001t0003g0008 a0001c0001t0007g0161 a0001c0001t0007g0162 others(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 | a0001c0001t0003g0005 a0001c0001t0003g0011 a0001c0001t0006g0116 others(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(9): Show |
C | 1 | a0001c0001t0010g0138 | 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 | 144 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(141): Show |
144 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(141): 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 | 3 | a0001c0001t0002g0097 a0001c0001t0002g0100 a0001c0001t0002g0102 |
3 | HG01074.hp1 HG02735.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.397+4871C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | chrX | 17011215 | |||||||
| chrX:17011376 | C | A | 13 | a0001c0001t0002g0003 a0001c0001t0002g0067 a0001c0001t0002g0068 others(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 | a0001c0001t0002g0003 a0001c0001t0002g0068 a0001c0001t0002g0078 others(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 | a0001c0001t0002g0016 a0001c0001t0002g0093 a0001c0001t0002g0098 others(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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0026 others(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:17012239 | C | T | 3 | a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 |
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 | a0001c0001t0001g0027 | 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 | 74 | a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0027 others(71): Show |
74 | HG00438.hp1 HG00438.hp2 HG00621.hp1 others(71): 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 | a0001c0001t0001g0041 a0001c0001t0001g0059 a0001c0001t0001g0062 others(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 | a0001c0001t0007g0162 a0001c0001t0009g0115 a0001c0001t0019g0020 others(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 | a0001c0001t0007g0161 a0001c0001t0009g0139 |
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 | a0001c0001t0010g0137 a0001c0001t0010g0138 |
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:17012679 | T | C | 2 | a0001c0001t0007g0161 a0001c0001t0007g0162 |
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:17013624 | CTG | C | 2 | a0001c0001t0007g0161 a0001c0001t0007g0162 |
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 | a0001c0001t0006g0117 a0001c0001t0006g0118 a0001c0001t0009g0115 others(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 | CTGTGTGT others(1): Show |
C | 26 | a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0048 others(23): Show |
26 | HG00280.hp1 HG00735.hp1 HG01261.hp1 others(23): 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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0026 others(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 | a0001c0001t0003g0012 a0001c0001t0012g0014 |
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 | 2 | a0001c0001t0002g0097 a0001c0001t0002g0100 |
2 | HG02735.hp1 NA20805.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 | a0001c0001t0013g0023 | 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 | a0001c0001t0002g0003 a0001c0001t0002g0067 a0001c0001t0002g0068 others(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:17015596 | G | A | 1 | a0001c0001t0001g0027 | 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 | a0001c0001t0007g0161 a0001c0001t0007g0162 |
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 | 144 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(141): Show |
144 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(141): 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 | a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0030 others(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 | a0001c0001t0001g0129 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0051 a0001c0001t0001g0088 others(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 | 122 | a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0024 others(119): Show |
122 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(119): 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 | a0001c0001t0001g0062 a0001c0001t0002g0003 a0001c0001t0002g0067 others(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:17016766 | T | C | 1 | a0001c0001t0001g0019 | 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 | a0001c0001t0006g0116 a0001c0001t0006g0117 a0001c0001t0006g0118 others(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 | a0001c0001t0001g0056 | 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 | a0001c0001t0007g0161 a0001c0001t0007g0162 |
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 | a0001c0001t0002g0094 a0001c0001t0003g0004 a0001c0001t0006g0116 others(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 | a0001c0001t0006g0116 a0001c0001t0006g0117 a0001c0001t0006g0118 others(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 | 144 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(141): Show |
144 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(141): 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 | 144 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(141): Show |
144 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(141): Show |
intron_variant | MODIFIER | c.398-3614C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | chrX | 17018509 | |||||||
| chrX:17018602 | CT | C | 151 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(148): Show |
151 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(148): Show |
intron_variant | MODIFIER | c.398-3506delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 17018602 | ||||||
| chrX:17018814 | A | AT | 6 | a0001c0001t0001g0080 a0001c0001t0001g0122 a0001c0001t0001g0123 others(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 | a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0158 |
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 | a0001c0001t0001g0153 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0026 others(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 | a0001c0001t0001g0054 a0001c0001t0001g0055 |
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 | a0001c0001t0006g0116 a0001c0001t0006g0117 a0001c0001t0006g0118 others(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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0026 others(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:17020682 | G | A | 2 | a0001c0001t0007g0161 a0001c0001t0007g0162 |
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 | 55 | a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0027 others(52): Show |
55 | HG00438.hp2 HG00621.hp1 HG01069.hp1 others(52): 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 | a0001c0001t0001g0125 a0001c0001t0001g0126 |
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:17020889 | C | T | 1 | a0001c0001t0002g0094 | 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 | a0001c0001t0001g0060 | 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 | a0001c0001t0001g0132 | 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 | a0001c0001t0002g0107 | 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 | a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0008g0018 others(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 | a0001c0004t0001g0114 | 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 | a0001c0001t0004g0089 | 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 | a0001c0001t0004g0089 | 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 | a0001c0001t0007g0162 | 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 | 154 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(151): Show |
154 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(151): 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 | 150 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(147): Show |
150 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(147): Show |
intron_variant | MODIFIER | c.546+1171delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 17023427 | ||||||
| chrX:17023849 | C | T | 1 | a0001c0001t0001g0032 | 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 | a0001c0001t0001g0027 a0001c0001t0001g0124 a0001c0001t0001g0129 |
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 | a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0158 others(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 | a0001c0001t0001g0027 a0001c0001t0001g0124 a0001c0001t0001g0129 others(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 | a0001c0001t0001g0132 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.547-929A>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 3/17 | chrX | 17024130 | |||||||
| chrX:17024363 | G | GT | 56 | a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0029 others(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 | 9 | a0001c0001t0001g0027 a0001c0001t0001g0062 a0001c0001t0002g0095 others(6): Show |
9 | HG01074.hp1 HG02602.hp1 HG02735.hp1 others(6): 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:17024455 | G | A | 1 | a0001c0001t0002g0103 | 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 | 152 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(149): Show |
152 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(149): 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:17025577 | T | A | 2 | a0001c0001t0001g0024 a0001c0001t0001g0029 |
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 | a0001c0001t0006g0116 a0001c0001t0006g0117 a0001c0001t0006g0118 others(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 | a0001c0001t0007g0161 a0001c0001t0007g0162 |
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:17026243 | A | G | 2 | a0001c0001t0002g0099 a0001c0001t0002g0112 |
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 | a0001c0001t0019g0020 | 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 | a0001c0001t0001g0029 a0001c0001t0001g0076 a0001c0001t0001g0126 others(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: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 | a0001c0001t0001g0001 a0001c0001t0001g0085 a0001c0002t0001g0072 |
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 | a0001c0001t0001g0080 a0001c0001t0001g0124 a0001c0001t0001g0125 others(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 | GT | G | 82 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0030 others(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 | 154 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(151): Show |
154 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(151): 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 | a0001c0004t0001g0114 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.674-813A>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 4/17 | chrX | 17028713 | |||||||
| chrX:17030314 | G | GGT | 18 | a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 others(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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0026 others(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 | GTGT | 2 | a0001c0001t0001g0144 a0001c0001t0002g0096 |
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 | a0001c0001t0001g0064 a0001c0001t0002g0025 |
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 | 48 | a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0029 others(45): Show |
48 | HG00621.hp1 HG01069.hp1 HG01071.hp1 others(45): 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 | a0001c0001t0001g0149 a0001c0001t0001g0151 |
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 | a0001c0001t0013g0023 | 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 | a0001c0001t0002g0111 | 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 | a0001c0001t0008g0018 | 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 | a0001c0001t0001g0060 | 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 | a0001c0001t0001g0049 | 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 | a0001c0001t0002g0093 | 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 | a0001c0001t0005g0077 | 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 | a0001c0001t0001g0027 | 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 | a0001c0001t0007g0161 a0001c0001t0007g0162 |
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 | a0001c0001t0007g0161 a0001c0001t0007g0162 |
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 | a0001c0001t0001g0080 a0001c0001t0001g0125 a0001c0001t0001g0126 |
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 | a0001c0001t0002g0099 a0001c0001t0002g0112 |
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 | a0001c0001t0001g0029 | 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 | 150 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(147): Show |
150 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(147): 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 | a0001c0001t0001g0083 a0001c0001t0019g0020 |
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 | a0001c0001t0007g0161 a0001c0001t0007g0162 |
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 | a0001c0001t0003g0007 a0001c0001t0003g0009 |
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 | a0001c0001t0002g0109 | 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 | 154 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(151): Show |
154 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(151): 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 | a0001c0001t0001g0048 | 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 | 152 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(149): Show |
152 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(149): 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 | a0001c0001t0002g0109 | 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 | a0001c0001t0001g0122 | 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 | a0001c0001t0006g0118 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.772-7248C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17040099 | |||||||
| chrX:17041614 | C | A | 1 | a0001c0001t0008g0018 | 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 | a0001c0001t0007g0161 a0001c0001t0007g0162 |
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:17042215 | C | T | 153 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(150): Show |
153 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(150): 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 | a0001c0001t0005g0082 | 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:17042832 | A | G | 154 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(151): Show |
154 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(151): Show |
intron_variant | MODIFIER | c.772-4515A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17042832 | |||||||
| chrX:17042885 | T | C | 1 | a0001c0001t0001g0148 | 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 | a0001c0001t0001g0148 | 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 | a0001c0001t0010g0137 a0001c0001t0010g0138 |
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:17043118 | G | A | 2 | a0001c0001t0010g0137 a0001c0001t0010g0138 |
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:17043442 | G | T | 1 | a0001c0001t0011g0031 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.772-3905G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17043442 | |||||||
| chrX:17043504 | GCC | G | 145 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(142): Show |
145 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(142): 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: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 | a0001c0001t0001g0132 | 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 | a0001c0001t0008g0018 a0001c0001t0008g0022 |
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:17043793 | G | T | 1 | a0001c0001t0002g0106 | 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 | a0001c0001t0002g0106 | 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:17044276 | A | G | 1 | a0001c0001t0007g0162 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.772-3071A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17044276 | |||||||
| chrX:17044521 | T | G | 4 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0001g0065 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.772-2805T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17044542 | |||||||
| chrX:17044673 | C | T | 2 | a0001c0001t0007g0161 a0001c0001t0007g0162 |
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 | 153 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(150): Show |
153 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(150): Show |
intron_variant | MODIFIER | c.772-2670A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17044677 | |||||||
| chrX:17044894 | T | C | 1 | a0001c0001t0019g0020 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.772-2453T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17044894 | |||||||
| chrX:17044922 | T | C | 4 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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:17045121 | C | G | 1 | a0001c0001t0002g0106 | 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 | 146 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(143): Show |
146 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(143): 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 | a0001c0001t0003g0005 a0001c0001t0003g0008 a0001c0001t0003g0011 |
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 | a0001c0001t0002g0106 | 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 | a0001c0001t0002g0106 | 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 | a0001c0001t0002g0091 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.772-2137C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17045210 | |||||||
| chrX:17045304 | C | T | 1 | a0001c0001t0002g0104 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.772-2043C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17045304 | |||||||
| chrX:17045342 | A | G | 4 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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:17045948 | GGT | G | 4 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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:17046145 | A | T | 4 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | AT | A | 5 | a0001c0001t0002g0106 a0001c0001t0009g0115 a0001c0001t0009g0139 others(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 | a0001c0001t0002g0025 a0001c0001t0002g0110 a0001c0001t0004g0028 others(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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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:17046215 | T | G | 1 | a0001c0004t0001g0114 | 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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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:17046582 | C | T | 1 | a0001c0001t0021g0119 | 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 | a0001c0001t0001g0033 | 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:17046811 | A | G | 153 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(150): Show |
153 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(150): Show |
intron_variant | MODIFIER | c.772-536A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 5/17 | chrX | 17046811 | |||||||
| chrX:17047586 | T | A | 1 | a0001c0001t0001g0052 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.907+104T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17047586 | |||||||
| chrX:17048049 | C | G | 4 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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: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:17048198 | C | A | 1 | a0001c0001t0004g0089 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.907+716C>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17048198 | |||||||
| chrX:17048321 | C | T | 2 | a0001c0001t0001g0059 a0001c0001t0001g0064 |
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:17048339 | A | G | 1 | a0001c0001t0018g0057 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.907+857A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17048339 | |||||||
| chrX:17048758 | A | G | 2 | a0001c0001t0007g0161 a0001c0001t0007g0162 |
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:17049026 | G | C | 1 | a0001c0001t0001g0052 | 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 | a0001c0001t0001g0052 | 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 | a0001c0001t0001g0052 | 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 | a0001c0001t0001g0052 | 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 | a0001c0001t0001g0052 | 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 | a0001c0001t0001g0052 | 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 | a0001c0001t0001g0052 | 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 | a0001c0001t0001g0052 | 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 | a0001c0001t0001g0052 | 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 | a0001c0001t0001g0052 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.907+1556G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049038 | |||||||
| chrX:17049063 | T | TTTTGTAT others(11): Show |
1 | a0001c0001t0005g0069 | 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:17049223 | T | A | 1 | a0001c0001t0001g0083 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.907+1741T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049223 | |||||||
| chrX:17049462 | G | GTTTATAC others(68): Show |
1 | a0001c0001t0005g0136 | 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 | 153 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(150): Show |
153 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(150): Show |
intron_variant | MODIFIER | c.907+2024T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049506 | |||||||
| 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:17049605 | AT | A | 3 | a0001c0001t0001g0074 a0001c0001t0001g0083 a0001c0001t0005g0136 |
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:17049623 | G | T | 4 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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:17049709 | TC | T | 2 | a0001c0001t0001g0034 a0001c0001t0005g0136 |
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:17049735 | A | G | 1 | a0001c0001t0005g0136 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.907+2253A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049735 | |||||||
| chrX:17049761 | T | A | 1 | a0001c0001t0001g0083 | 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 | a0001c0001t0001g0083 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.907+2280A>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049762 | |||||||
| chrX:17049766 | T | A | 1 | a0001c0001t0001g0083 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.907+2284T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049766 | |||||||
| chrX:17049810 | A | G | 4 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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:17049838 | T | G | 1 | a0001c0001t0001g0083 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.907+2356T>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049838 | |||||||
| 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:17049895 | A | AT | 7 | a0001c0001t0001g0043 a0001c0001t0001g0051 a0001c0001t0001g0073 others(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:17049932 | G | A | 1 | a0001c0001t0002g0109 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.907+2450G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049932 | |||||||
| chrX:17049956 | G | T | 1 | a0001c0001t0005g0136 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2426G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049956 | |||||||
| chrX:17049967 | T | G | 1 | a0001c0001t0001g0083 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.908-2415T>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049967 | |||||||
| chrX:17049976 | C | T | 1 | a0001c0001t0005g0136 | 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 | a0001c0001t0005g0136 | 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 | a0001c0001t0001g0060 a0001c0001t0005g0136 |
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 | a0001c0001t0005g0136 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2397T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049985 | |||||||
| chrX:17049989 | T | A | 1 | a0001c0001t0005g0136 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2393T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17049989 | |||||||
| chrX:17049996 | T | A | 1 | a0001c0001t0005g0136 | 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 | a0001c0001t0005g0136 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2381C>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050001 | |||||||
| chrX:17050006 | A | T | 1 | a0001c0001t0005g0136 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2376A>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050006 | |||||||
| chrX:17050015 | G | T | 1 | a0001c0001t0005g0136 | 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 | a0001c0001t0005g0136 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2365G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050017 | |||||||
| chrX:17050027 | G | T | 1 | a0001c0001t0005g0136 | 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 | a0001c0001t0005g0136 | 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 | a0001c0001t0001g0083 | 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 | a0001c0001t0005g0136 | 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 | a0001c0001t0005g0136 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2348A>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050034 | |||||||
| chrX:17050037 | C | T | 1 | a0001c0001t0005g0136 | 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 | a0001c0001t0005g0136 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0026 others(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 | a0001c0001t0005g0136 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2341A>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050041 | |||||||
| chrX:17050053 | G | T | 1 | a0001c0001t0005g0136 | 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 | a0001c0001t0005g0136 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2328G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050054 | |||||||
| chrX:17050060 | C | T | 1 | a0001c0001t0005g0136 | 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 | a0001c0001t0005g0136 | 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 | a0001c0001t0005g0136 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2317G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050065 | |||||||
| chrX:17050076 | T | A | 1 | a0001c0001t0005g0136 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2306T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050076 | |||||||
| chrX:17050080 | T | A | 1 | a0001c0001t0005g0136 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2302T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050080 | |||||||
| chrX:17050082 | T | A | 1 | a0001c0001t0005g0136 | 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 | a0001c0001t0005g0136 | 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 | a0001c0001t0005g0136 | 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 | a0001c0001t0005g0136 | 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 | a0001c0001t0005g0136 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2286T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050096 | |||||||
| chrX:17050104 | G | T | 1 | a0001c0001t0005g0136 | 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 | a0001c0001t0005g0136 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2277C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050105 | |||||||
| chrX:17050107 | T | A | 1 | a0001c0001t0005g0136 | 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 | a0001c0001t0005g0136 | 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 | a0001c0001t0005g0136 | 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 | a0001c0001t0005g0070 | 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 | a0001c0001t0001g0052 | 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 | CT | C | 2 | a0001c0001t0001g0032 a0001c0001t0001g0166 |
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: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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0138 |
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 | a0001c0001t0001g0160 | 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 | a0001c0001t0001g0154 | 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 | a0001c0001t0001g0145 | 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 | a0001c0001t0001g0156 | 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 | a0001c0001t0001g0159 | 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 | a0001c0001t0001g0047 | 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 | a0001c0001t0001g0033 | 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 | a0001c0001t0001g0035 | 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 | a0001c0001t0001g0083 | 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 | a0001c0001t0001g0122 | 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 | a0001c0001t0001g0052 a0001c0001t0001g0144 a0001c0001t0005g0070 others(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 | a0001c0001t0001g0143 a0001c0001t0001g0153 a0001c0001t0009g0115 others(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 | TCTTCCTT others(53): Show |
1 | a0001c0001t0001g0149 | 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 | a0001c0001t0001g0150 a0001c0001t0001g0166 a0001c0001t0016g0155 |
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 | a0001c0001t0001g0151 | 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 | a0001c0001t0001g0146 a0001c0001t0001g0147 |
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 | a0001c0001t0001g0141 | 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 | a0001c0001t0001g0148 | 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 | a0001c0001t0005g0079 | 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 | a0001c0001t0001g0153 | 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 | a0001c0001t0014g0113 | 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 | a0001c0001t0005g0077 | 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 | a0001c0001t0001g0158 | 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 | a0001c0001t0005g0069 | 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 | a0001c0001t0005g0082 | 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 | a0001c0001t0001g0041 | 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 | a0001c0001t0005g0066 | 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 | a0001c0001t0001g0064 | 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 | a0001c0001t0001g0152 | 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 | a0001c0001t0001g0086 | 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 | a0001c0001t0001g0140 | 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 | a0001c0001t0001g0157 | 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 | a0001c0001t0005g0071 | 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 | a0001c0001t0005g0087 | 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 | a0001c0001t0001g0059 a0001c0001t0001g0088 |
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 | a0001c0001t0001g0062 | 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 | a0001c0001t0011g0031 | 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 | a0001c0004t0001g0114 | 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 | a0001c0001t0001g0054 | 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 | a0001c0001t0001g0053 a0001c0001t0001g0055 |
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 | a0001c0001t0001g0142 | 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 | a0001c0001t0001g0026 | 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 | a0001c0001t0001g0060 | 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 | a0001c0001t0017g0050 | 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 | a0001c0001t0018g0057 | 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 | a0001c0001t0001g0074 | 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 | a0001c0001t0001g0081 | 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 | a0001c0001t0001g0036 | 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 | a0001c0001t0001g0038 a0002c0003t0001g0063 |
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 | a0001c0001t0001g0030 a0001c0001t0001g0049 |
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 | a0001c0001t0001g0039 | 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 | a0001c0001t0001g0056 | 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 | a0001c0001t0001g0044 | 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 | a0001c0001t0001g0037 | 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 | a0001c0001t0001g0032 | 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 | a0001c0001t0001g0076 | 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 | a0001c0001t0001g0085 a0001c0002t0001g0072 |
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 | a0001c0001t0001g0065 | 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 | a0001c0001t0001g0084 | 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 | a0001c0001t0001g0048 | 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 | a0001c0001t0001g0045 | 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 | a0001c0001t0001g0043 a0001c0001t0001g0046 |
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 | a0001c0001t0001g0075 | 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 | a0001c0001t0001g0042 | 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 | a0001c0001t0001g0061 | 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 | a0001c0001t0001g0051 | 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 | a0001c0001t0010g0137 | 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 | a0001c0001t0002g0105 | 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 | a0001c0001t0002g0016 a0001c0001t0002g0025 a0001c0001t0002g0078 others(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 | a0001c0001t0002g0015 a0001c0001t0002g0067 a0001c0001t0002g0095 others(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 | a0001c0001t0006g0118 | 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 | a0001c0001t0006g0116 | 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 | a0001c0001t0002g0017 a0001c0001t0002g0068 a0001c0001t0002g0094 others(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 | a0001c0001t0006g0117 | 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 | a0001c0001t0002g0090 a0001c0001t0002g0107 |
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 | a0001c0001t0002g0104 | 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(29): Show |
2 | a0001c0001t0002g0091 a0001c0001t0002g0098 |
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 | a0001c0001t0002g0093 a0001c0001t0002g0099 |
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 | a0001c0001t0002g0110 | 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 | a0001c0001t0001g0126 a0001c0001t0004g0089 a0001c0001t0004g0128 |
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 | a0001c0001t0003g0009 a0001c0001t0004g0130 a0001c0001t0013g0023 |
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 | a0001c0001t0001g0132 | 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 | a0001c0001t0001g0019 a0001c0001t0004g0028 |
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 | a0001c0001t0015g0021 | 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 | a0001c0001t0008g0018 | 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 | a0001c0001t0007g0161 | 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 | a0001c0001t0001g0123 | 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 | a0001c0001t0001g0033 a0001c0001t0001g0047 a0001c0001t0001g0052 others(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 | a0001c0001t0003g0012 a0001c0001t0003g0013 |
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(9): Show |
C | 1 | a0001c0001t0021g0119 | 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 | a0001c0001t0001g0035 | 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 | a0001c0001t0001g0034 a0001c0001t0001g0058 a0001c0001t0001g0073 others(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 | a0001c0001t0005g0136 | 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 | a0001c0001t0001g0034 | 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 | a0001c0001t0001g0058 a0001c0001t0001g0073 a0001c0001t0001g0143 others(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 | a0001c0001t0005g0136 | 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 | a0001c0001t0001g0058 a0001c0001t0001g0073 a0001c0001t0001g0149 |
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:17050157 | T | C | 2 | a0001c0001t0001g0058 a0001c0001t0001g0073 |
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 | a0001c0001t0005g0087 | 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 | a0001c0001t0005g0136 | 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 | a0001c0001t0005g0136 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2213T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050169 | |||||||
| chrX:17050171 | T | TTTC | 2 | a0001c0001t0001g0052 a0001c0001t0001g0083 |
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 | a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0049 others(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:17050180 | T | G | 1 | a0001c0001t0005g0087 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.908-2202T>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050180 | |||||||
| chrX:17050189 | T | C | 1 | a0001c0001t0001g0047 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.908-2193T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050189 | |||||||
| chrX:17050190 | C | CT | 10 | a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0045 others(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 | a0001c0001t0001g0058 | 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 | CTTTTCTT others(4): Show |
2 | a0001c0001t0001g0081 a0002c0003t0001g0063 |
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 | a0001c0001t0001g0060 a0001c0001t0011g0031 |
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 | a0001c0001t0001g0047 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.908-2192C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050190 | |||||||
| chrX:17050193 | T | C | 2 | a0001c0001t0001g0147 a0001c0001t0001g0148 |
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:17050194 | C | CT | 7 | a0001c0001t0001g0051 a0001c0001t0001g0062 a0001c0001t0001g0088 others(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 | a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0145 others(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 | CTTTCTTT others(54): Show |
1 | a0001c0001t0001g0073 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0056 a0001c0001t0001g0084 others(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 | a0001c0001t0001g0026 a0001c0001t0001g0042 a0001c0001t0001g0054 others(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:17050195 | T | C | 3 | a0001c0001t0001g0042 a0001c0001t0001g0054 a0001c0001t0001g0061 |
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 | TTTC | 12 | a0001c0001t0001g0002 a0001c0001t0001g0059 a0001c0001t0001g0064 others(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 others(78): Show |
1 | a0001c0001t0019g0020 | 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 | a0001c0001t0002g0102 | 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 | a0001c0001t0008g0022 | 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 | a0001c0001t0001g0027 | 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 | a0001c0001t0001g0038 | 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 | a0001c0001t0005g0136 | 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 | a0001c0001t0001g0148 | 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 | a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0041 others(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 | TTCTTTCT others(11): Show |
2 | a0001c0001t0002g0092 a0001c0001t0002g0164 |
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 | a0001c0001t0002g0040 | 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 | a0001c0001t0002g0100 | 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 | TTTCTTTT others(6): Show |
1 | a0001c0001t0001g0074 | 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 | a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0132 others(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 | TCTTTCTT others(6): Show |
1 | a0001c0001t0002g0096 | 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 | a0001c0001t0002g0097 | 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 | a0001c0001t0002g0111 | 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:17050198 | T | C | 46 | a0001c0001t0001g0019 a0001c0001t0001g0033 a0001c0001t0001g0122 others(43): Show |
46 | HG00280.hp1 HG00438.hp2 HG00621.hp1 others(43): 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 | a0001c0001t0005g0136 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0001g0029 others(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 | a0001c0001t0005g0136 | 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 | a0001c0001t0001g0032 a0001c0001t0001g0125 a0001c0001t0001g0129 others(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 | a0001c0001t0001g0083 a0001c0001t0001g0132 a0001c0001t0002g0096 others(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 | a0001c0001t0006g0117 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0032 a0001c0001t0001g0035 others(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 | a0001c0001t0005g0079 a0001c0001t0005g0082 |
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 | a0001c0001t0005g0136 | 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 | a0001c0001t0005g0136 | 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 | a0001c0001t0005g0136 | 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 | a0001c0001t0005g0136 | 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 | a0001c0001t0005g0136 | 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 | a0001c0001t0005g0136 | 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 | a0001c0001t0005g0136 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2155G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050227 | |||||||
| chrX:17050232 | T | A | 1 | a0001c0001t0005g0136 | 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 | a0001c0001t0005g0136 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2147G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050235 | |||||||
| chrX:17050246 | G | A | 1 | a0001c0001t0005g0136 | 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 | a0001c0001t0005g0136 | 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 | a0001c0001t0001g0132 a0001c0001t0005g0136 |
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 | a0001c0001t0005g0136 | 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 | a0001c0001t0001g0035 a0001c0001t0005g0136 |
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 | a0001c0001t0005g0136 | 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 | a0001c0001t0005g0136 | 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 | a0001c0001t0001g0083 a0001c0001t0001g0166 |
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 | a0001c0001t0005g0070 a0001c0001t0005g0079 |
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 | a0001c0001t0005g0136 | 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 | a0001c0001t0005g0136 | 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 | a0001c0001t0005g0136 | 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 | a0001c0001t0005g0136 | 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 | a0001c0001t0005g0136 | 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 | a0001c0001t0005g0136 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2112G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050270 | |||||||
| chrX:17050273 | T | C | 1 | a0001c0001t0005g0136 | 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 | a0001c0001t0005g0136 | 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 | a0001c0001t0005g0136 | 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 | a0001c0001t0005g0136 | 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 | a0001c0001t0005g0136 | 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 | a0001c0001t0005g0136 | 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 | a0001c0001t0005g0136 | 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 | a0001c0001t0005g0136 | 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 | a0001c0001t0005g0136 | 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 | a0001c0001t0005g0136 | 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 | a0001c0001t0005g0136 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2091G>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050291 | |||||||
| chrX:17050297 | C | A | 1 | a0001c0001t0005g0136 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2085C>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050297 | |||||||
| chrX:17050311 | T | C | 1 | a0001c0001t0001g0032 | 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 | a0001c0001t0001g0032 | 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 | a0001c0001t0001g0034 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.908-2060T>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050322 | |||||||
| chrX:17050356 | G | T | 1 | a0001c0001t0005g0136 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2026G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050356 | |||||||
| chrX:17050374 | G | T | 1 | a0001c0001t0005g0136 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-2008G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050374 | |||||||
| chrX:17050387 | T | A | 1 | a0001c0001t0005g0136 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-1995T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050387 | |||||||
| chrX:17050487 | G | A | 149 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(146): Show |
149 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(146): Show |
intron_variant | MODIFIER | c.908-1895G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050487 | |||||||
| chrX:17050544 | G | T | 1 | a0001c0001t0005g0136 | 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 | a0001c0001t0005g0136 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-1824G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050558 | |||||||
| chrX:17050699 | T | A | 1 | a0001c0001t0005g0136 | 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 | a0001c0001t0005g0136 | 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 | T | 1 | a0001c0001t0005g0136 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-1681G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050701 | |||||||
| chrX:17050777 | A | T | 1 | a0001c0001t0001g0035 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.908-1605A>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050777 | |||||||
| chrX:17050848 | T | A | 1 | a0001c0001t0005g0136 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-1534T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050848 | |||||||
| chrX:17050862 | G | A | 153 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(150): Show |
153 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(150): 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 | a0001c0001t0005g0136 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.908-1519T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17050863 | |||||||
| chrX:17051001 | T | C | 1 | a0001c0001t0001g0035 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.908-1381T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17051001 | |||||||
| chrX:17051092 | C | G | 1 | a0001c0001t0001g0027 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.908-1290C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17051092 | |||||||
| chrX:17051245 | T | G | 4 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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:17051568 | A | T | 1 | a0001c0001t0001g0030 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.908-814A>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17051568 | |||||||
| chrX:17051643 | T | G | 1 | a0001c0001t0001g0035 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.908-739T>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17051643 | |||||||
| chrX:17051740 | G | C | 1 | a0001c0001t0001g0052 | 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 | a0001c0001t0001g0052 | 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 | a0001c0001t0001g0052 | 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 | a0001c0001t0001g0052 | 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 | a0001c0001t0001g0052 | 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 | a0001c0001t0001g0052 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.908-633A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17051749 | |||||||
| chrX:17051755 | A | G | 1 | a0001c0001t0001g0052 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.908-627A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17051755 | |||||||
| chrX:17051976 | G | T | 1 | a0001c0001t0001g0035 | 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 | a0001c0001t0005g0079 | 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 | a0001c0001t0005g0079 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.908-386G>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17051996 | |||||||
| chrX:17052250 | T | A | 1 | a0001c0001t0001g0035 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.908-132T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | chrX | 17052250 | |||||||
| chrX:17052526 | G | GGCTTATG others(11): Show |
1 | a0001c0001t0001g0088 | 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:17052565 | G | A | 147 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(144): Show |
147 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(144): Show |
intron_variant | MODIFIER | c.971+120G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 7/17 | chrX | 17052565 | |||||||
| chrX:17052660 | T | A | 1 | a0001c0001t0001g0035 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.971+215T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 7/17 | chrX | 17052660 | |||||||
| chrX:17052788 | A | C | 1 | a0001c0001t0005g0079 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.971+343A>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 7/17 | chrX | 17052788 | |||||||
| chrX:17052968 | C | T | 1 | a0001c0001t0001g0123 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.971+523C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 7/17 | chrX | 17052968 | |||||||
| chrX:17053051 | T | C | 4 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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:17053647 | A | G | 2 | a0001c0001t0007g0161 a0001c0001t0007g0162 |
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: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:17053959 | C | G | 4 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0001g0035 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.972-791C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 7/17 | chrX | 17054017 | |||||||
| chrX:17054308 | G | A | 1 | a0001c0001t0021g0119 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.972-500G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 7/17 | chrX | 17054308 | |||||||
| chrX:17054742 | C | T | 1 | a0001c0001t0001g0043 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0030 others(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 | a0001c0001t0001g0048 a0001c0001t0001g0065 |
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 | a0001c0001t0001g0129 | 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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0005g0066 a0001c0001t0005g0069 a0001c0001t0005g0070 others(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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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:17055755 | G | A | 4 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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:17056007 | A | C | 1 | a0001c0001t0001g0058 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.1114+1057A>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | chrX | 17056007 | |||||||
| chrX:17056022 | A | AC | 2 | a0001c0001t0001g0052 a0001c0001t0001g0166 |
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 | 142 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(139): Show |
142 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(139): Show |
intron_variant | MODIFIER | c.1114+1073A>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | chrX | 17056023 | |||||||
| chrX:17056143 | A | T | 58 | a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0027 others(55): Show |
58 | HG00438.hp2 HG00621.hp1 HG01069.hp1 others(55): Show |
intron_variant | MODIFIER | c.1114+1193A>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | chrX | 17056143 | |||||||
| chrX:17056486 | G | A | 3 | a0001c0001t0001g0002 a0001c0001t0001g0035 a0001c0001t0001g0165 |
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 | a0001c0002t0001g0072 | 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 | a0001c0001t0001g0033 a0001c0001t0001g0034 |
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:17056693 | T | TA | 151 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(148): Show |
151 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(148): Show |
intron_variant | MODIFIER | c.1114+1754dupA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chrX | 17056693 | ||||||
| chrX:17056962 | A | G | 4 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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:17057153 | A | G | 4 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0006g0118 | 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 | a0001c0001t0003g0012 a0001c0001t0012g0014 |
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 | a0001c0001t0006g0118 | 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 | a0001c0001t0001g0157 | 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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0026 others(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 | CA | C | 137 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(134): Show |
137 | HG00280.hp1 HG00438.hp2 HG00609.hp1 others(134): Show |
intron_variant | MODIFIER | c.1114+3521delA | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chrX | 17058452 | ||||||
| chrX:17058693 | C | T | 1 | a0001c0001t0001g0061 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.1114+3743C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | chrX | 17058693 | |||||||
| chrX:17059033 | C | T | 2 | a0001c0001t0001g0061 a0001c0001t0001g0076 |
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 | a0001c0001t0001g0085 | 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 | a0001c0001t0007g0161 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.1115-3275A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | chrX | 17059163 | |||||||
| chrX:17059299 | G | GT | 6 | a0001c0001t0001g0051 a0001c0001t0001g0076 a0001c0001t0001g0141 others(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:17059920 | A | AAGTCTCC others(19): Show |
49 | a0001c0001t0001g0002 a0001c0001t0001g0049 a0001c0001t0001g0088 others(46): Show |
49 | HG00438.hp2 HG00621.hp1 HG01069.hp1 others(46): 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 | a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0024 others(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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0001g0154 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.1115-2361G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 8/17 | chrX | 17060077 | |||||||
| 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 | a0001c0001t0002g0104 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0032 a0001c0001t0001g0033 others(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:17060773 | G | A | 6 | a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 others(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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0001g0047 a0001c0001t0001g0052 |
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:17062253 | A | G | 1 | a0001c0001t0001g0065 | 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 | a0001c0001t0006g0116 a0001c0001t0006g0117 |
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 | 60 | a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0027 others(57): Show |
60 | HG00438.hp2 HG00621.hp1 HG01069.hp1 others(57): 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 | a0001c0001t0001g0080 a0001c0001t0001g0125 a0001c0001t0001g0126 others(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 | a0001c0001t0001g0124 | 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 | 154 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(151): Show |
154 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(151): 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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0026 others(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:17063247 | A | G | 2 | a0001c0001t0007g0161 a0001c0001t0007g0162 |
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 | a0001c0001t0001g0059 a0001c0001t0001g0064 |
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 | a0001c0001t0010g0138 | 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 | a0001c0004t0001g0114 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1209+974C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 9/17 | chrX | 17063506 | |||||||
| chrX:17063679 | T | A | 4 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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:17063923 | T | TAC | 5 | a0001c0001t0003g0004 a0001c0001t0007g0161 a0001c0001t0007g0162 others(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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0026 others(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 | TACACACA others(3): Show |
1 | a0001c0001t0005g0136 | 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 | 55 | a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0029 others(52): Show |
55 | HG00438.hp2 HG00621.hp1 HG01069.hp1 others(52): 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 | CT | C | 146 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(143): Show |
146 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(143): Show |
intron_variant | MODIFIER | c.1209+1584delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chrX | 17064102 | ||||||
| chrX:17064166 | C | G | 1 | a0001c0001t0014g0113 | 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 | 154 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(151): Show |
154 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(151): Show |
intron_variant | MODIFIER | c.1209+1935C>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 9/17 | chrX | 17064467 | |||||||
| chrX:17064971 | T | C | 1 | a0001c0001t0003g0008 | 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 | a0001c0001t0001g0158 | 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 | 60 | a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0027 others(57): Show |
60 | HG00438.hp2 HG00621.hp1 HG01069.hp1 others(57): 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 | a0001c0001t0006g0116 | 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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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:17066604 | C | T | 60 | a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0027 others(57): Show |
60 | HG00438.hp2 HG00621.hp1 HG01069.hp1 others(57): 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 | a0001c0001t0005g0069 | 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 | a0001c0001t0001g0061 a0001c0001t0001g0076 |
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 | a0001c0001t0005g0082 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.1210-1132G>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 9/17 | chrX | 17067270 | |||||||
| chrX:17067588 | C | G | 1 | a0001c0001t0013g0023 | 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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0004t0001g0114 | 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 | a0001c0001t0011g0031 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.1210-326G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 9/17 | chrX | 17068076 | |||||||
| chrX:17068335 | A | G | 4 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | 60 | a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0027 others(57): Show |
60 | HG00438.hp2 HG00621.hp1 HG01069.hp1 others(57): 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 | a0001c0001t0021g0119 | 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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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:17071059 | A | C | 1 | a0001c0001t0002g0040 | 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 | a0001c0001t0002g0103 | 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 | 146 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(143): Show |
146 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(143): 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 | a0001c0001t0001g0132 a0001c0001t0001g0160 a0001c0001t0002g0164 others(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 | a0001c0001t0001g0019 | 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 | a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 others(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 | a0001c0001t0005g0079 | 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 | 154 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(151): Show |
154 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(151): Show |
intron_variant | MODIFIER | c.1333+1983G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 11/17 | chrX | 17071976 | |||||||
| chrX:17072132 | C | G | 150 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(147): Show |
150 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(147): 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 | a0001c0001t0002g0099 | 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 | 154 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(151): Show |
154 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(151): 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 | a0001c0001t0001g0165 a0001c0001t0001g0166 |
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 | a0001c0001t0001g0002 a0001c0001t0001g0035 |
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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | 36 | a0001c0001t0002g0003 a0001c0001t0002g0015 a0001c0001t0002g0016 others(33): Show |
36 | HG00438.hp2 HG00621.hp1 HG01074.hp1 others(33): 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 | a0001c0001t0001g0132 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1334-667C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 11/17 | chrX | 17073447 | |||||||
| chrX:17073685 | T | A | 1 | a0001c0001t0004g0089 | 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 | a0001c0001t0001g0124 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.1334-428A>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 11/17 | chrX | 17073686 | |||||||
| chrX:17073887 | A | G | 1 | a0001c0001t0001g0027 | 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 | 150 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(147): Show |
150 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(147): 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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | 154 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(151): Show |
154 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(151): 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 | a0001c0001t0002g0091 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0026 others(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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0001g0027 a0001c0001t0001g0080 a0001c0001t0001g0124 others(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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0026 others(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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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:17076660 | G | T | 2 | a0001c0001t0001g0041 a0001c0001t0001g0086 |
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:17076936 | G | C | 1 | a0001c0001t0001g0030 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.1380-335G>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 12/17 | chrX | 17076936 | |||||||
| chrX:17077670 | C | T | 4 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | 60 | a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0027 others(57): Show |
60 | HG00438.hp2 HG00621.hp1 HG01069.hp1 others(57): 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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0007g0161 a0001c0001t0007g0162 |
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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0001g0024 | 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 | a0001c0001t0001g0026 | 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 | a0001c0001t0001g0125 | 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 | a0001c0001t0001g0027 | 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 | a0001c0001t0001g0054 a0001c0001t0001g0055 |
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 | a0001c0001t0001g0122 a0001c0001t0001g0123 |
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 | 148 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(145): Show |
148 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(145): 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 | a0001c0001t0003g0012 a0001c0001t0012g0014 |
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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0002g0109 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.1516+3756T>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17081163 | |||||||
| chrX:17082420 | T | C | 1 | a0001c0001t0005g0066 | 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 | a0001c0001t0001g0041 a0001c0001t0001g0059 a0001c0001t0001g0064 others(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 | 155 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(152): Show |
155 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(152): 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 | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0033 others(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 | CT | C | 6 | a0001c0001t0001g0148 a0001c0001t0002g0017 a0001c0001t0002g0111 others(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:17083385 | C | T | 1 | a0001c0001t0006g0118 | 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 | a0001c0001t0001g0073 | 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 | a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0046 others(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 | 155 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(152): Show |
155 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(152): 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 | a0001c0001t0005g0069 a0001c0001t0005g0071 a0001c0001t0005g0077 |
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:17084462 | A | AT | 4 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0005g0082 | 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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0001g0019 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1516+7780A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17085187 | |||||||
| chrX:17085583 | T | A | 2 | a0001c0001t0001g0030 a0001c0001t0001g0036 |
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 | a0001c0001t0001g0055 | 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 | a0001c0001t0001g0055 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.1516+8210C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17085617 | |||||||
| chrX:17086082 | TC | T | 4 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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:17086415 | T | C | 2 | a0001c0001t0001g0054 a0001c0001t0001g0055 |
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:17086451 | G | A | 4 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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:17086556 | A | G | 4 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0001g0122 a0001c0001t0001g0123 |
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:17087161 | A | G | 2 | a0001c0001t0005g0071 a0001c0001t0005g0077 |
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 | a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0122 others(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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0004g0028 a0001c0001t0004g0120 a0001c0001t0004g0121 others(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 | a0001c0001t0001g0024 a0001c0001t0002g0003 a0001c0001t0002g0016 others(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 | a0001c0001t0001g0029 a0001c0001t0002g0078 a0001c0001t0002g0091 others(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 | a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0004g0120 others(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 | a0001c0001t0001g0027 a0001c0001t0001g0124 a0001c0001t0001g0125 others(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 | a0001c0001t0001g0062 a0001c0001t0001g0156 a0001c0001t0001g0165 others(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 | a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0073 others(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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0026 others(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 | a0001c0001t0002g0067 | 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 | a0001c0001t0005g0070 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.1516+10767G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17088174 | |||||||
| chrX:17088588 | CT | C | 12 | a0001c0001t0001g0035 a0001c0001t0001g0124 a0001c0001t0001g0132 others(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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0002c0003t0001g0063 | 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 | 155 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(152): Show |
155 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(152): 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 | a0001c0001t0009g0115 a0001c0001t0009g0139 |
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 | a0001c0001t0011g0031 | 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 | 155 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(152): Show |
155 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(152): 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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0005g0082 | 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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0001g0045 | 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 | a0001c0001t0004g0133 | 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 | a0001c0001t0003g0005 a0001c0001t0003g0008 a0001c0001t0003g0011 |
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 | a0001c0001t0003g0004 a0001c0001t0003g0009 |
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 | a0001c0001t0003g0007 a0001c0001t0009g0115 a0001c0001t0009g0139 |
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 | a0001c0001t0007g0162 a0001c0001t0010g0137 |
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 | a0001c0001t0007g0161 a0001c0001t0010g0138 |
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 | a0001c0001t0003g0013 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0026 others(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 | a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0088 others(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 | a0001c0001t0001g0062 a0001c0001t0001g0144 a0001c0001t0001g0149 others(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 | a0001c0001t0001g0150 a0001c0001t0002g0067 |
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(4): Show |
4 | a0001c0001t0002g0105 a0001c0001t0002g0135 a0001c0001t0002g0164 others(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 | a0001c0001t0002g0098 a0001c0001t0004g0131 |
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 | a0001c0001t0001g0024 a0001c0001t0001g0126 a0001c0001t0001g0129 others(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 |
10 | a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0040 others(7): Show |
10 | HG02040.hp1 HG02109.hp1 HG02293.hp1 others(7): 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 | a0001c0001t0001g0027 a0001c0001t0001g0122 a0001c0001t0001g0125 others(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 | a0001c0001t0001g0019 a0001c0001t0001g0080 a0001c0001t0001g0124 others(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 | a0001c0001t0001g0029 a0001c0001t0001g0123 a0001c0001t0002g0092 others(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 | a0001c0001t0002g0078 a0001c0001t0002g0099 a0001c0001t0002g0102 others(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 | a0001c0001t0002g0093 | 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 | a0001c0001t0002g0104 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(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:17093669 | T | G | 155 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(152): Show |
155 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(152): 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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0026 others(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 | a0001c0001t0005g0066 | 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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0001g0027 a0001c0001t0001g0080 a0001c0001t0001g0124 others(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 | a0001c0001t0001g0041 a0001c0001t0001g0059 a0001c0001t0001g0064 others(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 | 153 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0024 others(150): Show |
153 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(150): Show |
intron_variant | MODIFIER | c.1517-8179delT | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | 17095524 | ||||||
| chrX:17095653 | A | G | 2 | a0001c0001t0007g0161 a0001c0001t0007g0162 |
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 | a0001c0001t0001g0062 a0001c0001t0005g0066 a0001c0001t0005g0069 others(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 | 155 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(152): Show |
155 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(152): 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 | a0001c0001t0002g0078 | 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 | a0001c0001t0005g0069 | 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 | a0001c0001t0005g0069 | 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 | a0001c0001t0005g0069 | 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 | a0001c0001t0002g0040 a0001c0001t0002g0090 |
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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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:17096679 | AAAAG | A | 132 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0024 others(129): Show |
132 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(129): 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 | a0001c0001t0001g0019 a0001c0001t0001g0032 a0001c0001t0001g0034 others(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: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 | a0001c0001t0007g0161 a0001c0001t0007g0162 |
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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0002g0092 | 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 | a0001c0001t0001g0061 a0001c0001t0001g0076 |
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 | 145 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(142): Show |
145 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(142): 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 | a0001c0001t0001g0044 a0001c0001t0002g0015 a0001c0001t0002g0016 others(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 | a0001c0001t0001g0141 | 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 | a0001c0001t0001g0048 | 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 | a0001c0001t0016g0155 | 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 | 155 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(152): Show |
155 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(152): 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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0001g0059 a0001c0001t0001g0064 |
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 | a0001c0001t0001g0065 | 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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0002g0099 a0001c0001t0002g0112 |
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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0004g0131 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.1517-2779T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | 17100939 | |||||||
| chrX:17101298 | A | G | 155 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(152): Show |
155 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(152): 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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0026 others(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 | a0001c0001t0001g0088 | 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 | 151 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(148): Show |
151 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(148): 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 | a0001c0001t0001g0049 | 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 | a0001c0001t0004g0089 | 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 | a0001c0001t0007g0162 | 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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0007g0161 a0001c0001t0007g0162 |
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:17102023 | TTTATTTT others(3): Show |
T | 2 | a0001c0001t0007g0162 a0001c0001t0014g0113 |
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 | a0001c0001t0001g0019 a0001c0001t0015g0021 |
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 | a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0002g0040 others(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 | a0001c0001t0001g0124 | 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 | a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0008 others(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 | a0001c0001t0003g0007 | 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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0060 others(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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0034 others(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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | 53 | a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0029 others(50): Show |
53 | HG00280.hp1 HG00438.hp2 HG00621.hp1 others(50): 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 | a0001c0001t0001g0037 | 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 | a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0088 others(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 | a0001c0001t0007g0161 | 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 | 155 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(152): Show |
155 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(152): 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 | a0001c0001t0004g0089 | 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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | 60 | a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0027 others(57): Show |
60 | HG00438.hp2 HG00621.hp1 HG01069.hp1 others(57): 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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0007g0161 a0001c0001t0007g0162 |
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 | a0001c0001t0001g0039 | 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 | a0001c0001t0001g0073 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.1578+831A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17104610 | |||||||
| chrX:17105133 | A | G | 3 | a0001c0001t0003g0007 a0001c0001t0003g0009 a0001c0001t0003g0013 |
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 | a0001c0001t0019g0020 | 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 | a0001c0001t0001g0081 | 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 | a0001c0001t0007g0161 a0001c0001t0007g0162 |
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 | a0001c0001t0019g0020 | 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 | a0001c0001t0012g0014 | 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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0013g0023 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1578+2424G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17106203 | |||||||
| chrX:17107015 | A | G | 26 | a0001c0001t0001g0041 a0001c0001t0001g0059 a0001c0001t0001g0062 others(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:17107147 | A | T | 4 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0002g0092 a0001c0001t0002g0101 |
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:17108203 | C | T | 4 | a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 others(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 | a0001c0001t0003g0013 | 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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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:17109068 | A | G | 4 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0001g0024 | 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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0001g0002 a0001c0001t0001g0032 a0001c0001t0001g0033 others(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 | a0001c0001t0001g0166 a0001c0001t0009g0115 a0001c0001t0009g0139 others(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:17110329 | G | T | 4 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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:17110587 | G | A | 1 | a0001c0001t0001g0019 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1578+6808G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17110587 | |||||||
| chrX:17110691 | TCAAA | T | 15 | a0001c0001t0001g0036 a0001c0001t0004g0028 a0001c0001t0004g0120 others(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 | a0001c0001t0002g0040 a0001c0001t0002g0090 |
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 | a0001c0001t0019g0020 | 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 | a0001c0001t0001g0061 a0001c0001t0001g0076 |
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 | a0001c0001t0005g0066 a0001c0001t0005g0069 a0001c0001t0005g0070 others(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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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:17112086 | G | A | 155 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(152): Show |
155 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(152): Show |
intron_variant | MODIFIER | c.1578+8307G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17112086 | |||||||
| chrX:17112870 | C | T | 6 | a0001c0001t0001g0002 a0001c0001t0001g0032 a0001c0001t0001g0035 others(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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0001g0156 a0001c0001t0001g0160 |
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 | a0001c0001t0001g0026 a0001c0001t0001g0037 a0001c0001t0001g0041 others(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 | CA | C | 26 | a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0029 others(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 | 42 | a0001c0001t0002g0003 a0001c0001t0002g0015 a0001c0001t0002g0016 others(39): Show |
42 | HG00438.hp2 HG00621.hp1 HG01069.hp1 others(39): 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:17113205 | A | G | 1 | a0001c0001t0002g0105 | 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 | a0001c0001t0001g0024 | 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 | 60 | a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0027 others(57): Show |
60 | HG00438.hp2 HG00621.hp1 HG01069.hp1 others(57): 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 | a0001c0001t0001g0044 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.1578+9725G>A | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17113504 | |||||||
| chrX:17113809 | A | G | 155 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(152): Show |
155 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(152): Show |
intron_variant | MODIFIER | c.1578+10030A>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17113809 | |||||||
| chrX:17113876 | G | A | 149 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(146): Show |
149 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(146): 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 | a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0008g0018 others(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 | a0001c0001t0001g0080 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0035 a0001c0001t0001g0165 others(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 | a0001c0001t0007g0161 a0001c0001t0007g0162 |
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 | a0001c0001t0010g0138 | 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 | 149 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(146): Show |
149 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(146): 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 | a0001c0001t0001g0085 | 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 | a0001c0001t0002g0025 | 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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | 149 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(146): Show |
149 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(146): 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 | a0001c0001t0002g0107 | 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 | a0001c0001t0001g0064 a0001c0001t0004g0028 a0001c0001t0004g0120 others(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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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:17117380 | C | T | 5 | a0001c0001t0001g0002 a0001c0001t0001g0032 a0001c0001t0001g0035 others(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 | a0001c0001t0001g0041 a0001c0001t0001g0086 |
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:17117649 | C | T | 1 | a0001c0004t0001g0114 | 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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 others(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:17117802 | A | G | 4 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0001g0039 | 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 | 7 | a0001c0001t0001g0058 a0001c0001t0001g0080 a0001c0001t0001g0122 others(4): Show |
7 | HG03139.hp1 HG03209.hp1 HG03579.hp1 others(4): 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 | CT | C | 105 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0027 others(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 | a0001c0001t0001g0055 a0001c0001t0001g0142 a0001c0001t0002g0068 others(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: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:17118104 | C | T | 1 | a0001c0001t0001g0019 | 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 | 155 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(152): Show |
155 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(152): 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 | a0001c0001t0001g0019 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1578+14337C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17118116 | |||||||
| chrX:17118169 | C | T | 1 | a0001c0002t0001g0072 | 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:17119269 | G | A | 1 | a0001c0001t0003g0007 | 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 | a0001c0001t0001g0036 | 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 | a0001c0004t0001g0114 | 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 | 41 | a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0064 others(38): Show |
41 | HG01069.hp1 HG01071.hp1 HG01071.hp2 others(38): 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 | a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0126 others(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 | CTTTTTTT others(7): Show |
1 | a0001c0001t0009g0115 | 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 | a0001c0001t0009g0139 a0001c0001t0010g0138 |
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 | a0001c0001t0010g0137 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0026 others(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 | a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0043 others(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 | a0001c0001t0002g0100 | 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 | a0001c0001t0007g0161 a0001c0001t0007g0162 |
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 | a0001c0001t0004g0089 | 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 | a0001c0001t0002g0003 a0001c0001t0002g0067 a0001c0001t0002g0068 others(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 | a0001c0001t0001g0045 | 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 | a0001c0001t0016g0155 | 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 | a0001c0001t0002g0104 | 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 | 36 | a0001c0001t0002g0003 a0001c0001t0002g0015 a0001c0001t0002g0016 others(33): Show |
36 | HG00438.hp2 HG00621.hp1 HG01074.hp1 others(33): 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 | a0001c0001t0002g0093 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.1579-12303T>G | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 14/17 | chrX | 17121521 | |||||||
| chrX:17121804 | C | T | 3 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0005g0071 |
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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0001g0026 a0001c0001t0001g0037 a0001c0001t0001g0056 others(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 | a0001c0001t0002g0067 | 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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0007g0161 a0001c0001t0007g0162 |
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 | a0001c0001t0005g0087 | 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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0005g0077 | 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 | a0001c0001t0014g0113 | 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 | a0001c0001t0001g0035 | 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 | a0001c0001t0001g0027 | 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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0001g0062 a0001c0001t0001g0148 a0001c0001t0001g0150 others(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:17124970 | T | A | 1 | a0001c0001t0003g0007 | 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 | a0001c0001t0007g0161 a0001c0001t0007g0162 |
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 | a0001c0001t0005g0071 | 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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | 155 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(152): Show |
155 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(152): 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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0001g0074 | 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 | a0001c0001t0005g0077 | 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 | 155 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(152): Show |
155 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(152): 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 | 155 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(152): Show |
155 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(152): 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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0001g0019 | 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 | a0001c0001t0002g0040 a0001c0001t0002g0090 |
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 | a0001c0001t0007g0161 a0001c0001t0007g0162 |
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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0001g0024 | 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 | a0001c0001t0001g0065 | 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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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: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 | 151 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(148): Show |
151 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(148): 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 | a0001c0001t0001g0051 | 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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 |
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 | 149 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(146): Show |
149 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(146): 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 | a0001c0001t0001g0029 a0001c0001t0002g0091 a0001c0001t0003g0005 others(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:17131908 | T | G | 2 | a0001c0001t0007g0161 a0001c0001t0007g0162 |
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 | 149 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(146): Show |
149 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(146): 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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0001g0132 | 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 | a0001c0001t0001g0058 | 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 | 36 | a0001c0001t0002g0003 a0001c0001t0002g0015 a0001c0001t0002g0016 others(33): Show |
36 | HG00438.hp2 HG00621.hp1 HG01074.hp1 others(33): 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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0002g0091 | 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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0002g0112 | 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 | a0001c0001t0007g0161 a0001c0001t0007g0162 |
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 | 151 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(148): Show |
151 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(148): 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 | a0001c0001t0001g0027 | 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 | a0001c0001t0002g0104 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.1662+635T>C | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 15/17 | chrX | 17134542 | |||||||
| chrX:17134652 | C | T | 1 | a0001c0001t0002g0096 | 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 | 155 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(152): Show |
155 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(152): 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 | a0001c0001t0002g0068 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0026 others(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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0002g0104 | 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 | a0001c0001t0001g0085 | 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 | 153 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(150): Show |
153 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(150): 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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0001g0058 | 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 | 151 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(148): Show |
151 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(148): 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 | a0001c0001t0001g0064 | 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 | a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0015g0021 |
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 | a0001c0001t0001g0024 | 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 | a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0158 |
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 | a0001c0001t0005g0082 | 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 | 151 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(148): Show |
151 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(148): 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 | a0001c0001t0001g0088 | 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 | a0001c0001t0001g0047 a0001c0001t0001g0052 |
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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0001g0039 a0001c0001t0009g0115 a0001c0001t0009g0139 others(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 | a0001c0001t0001g0049 a0001c0001t0001g0060 a0001c0001t0001g0074 others(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 | ATAT | A | 48 | a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0027 others(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 | 50 | a0001c0001t0001g0024 a0001c0001t0001g0041 a0001c0001t0001g0045 others(47): Show |
50 | HG00438.hp2 HG00621.hp1 HG01069.hp1 others(47): 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 | a0001c0001t0002g0101 a0001c0001t0003g0004 a0001c0001t0003g0005 others(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 | a0001c0001t0013g0023 | 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 | a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0144 others(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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | a0001c0001t0007g0161 a0001c0001t0007g0162 |
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 | a0001c0001t0001g0142 | 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 | a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0149 others(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 | 151 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(148): Show |
151 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(148): 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 | a0001c0001t0002g0103 | 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 | a0001c0001t0001g0132 | 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 | 155 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(152): Show |
155 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(152): 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 | a0001c0001t0004g0130 | 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 | a0001c0001t0007g0161 a0001c0001t0007g0162 |
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 | a0001c0001t0013g0023 | 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 | a0001c0001t0001g0129 | 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 | a0001c0001t0001g0080 | 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 | 151 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(148): Show |
151 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(148): 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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0026 others(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 | a0001c0004t0001g0114 | 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 | 151 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(148): Show |
151 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(148): 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 | a0001c0001t0001g0019 | 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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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 | 155 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(152): Show |
155 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(152): Show |
intron_variant | MODIFIER | c.1915-1432C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 17/17 | chrX | 17145981 | |||||||
| chrX:17146001 | T | C | 155 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(152): Show |
155 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(152): 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 | a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0002g0107 others(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 | a0001c0001t0006g0116 | 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 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(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:17146155 | G | C | 155 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(152): Show |
155 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(152): 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 | a0001c0001t0002g0105 | 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 | a0001c0001t0002g0090 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.1915-362C>T | REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 17/17 | chrX | 17147051 |