Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| geneid | 1184 |
|---|---|
| ensemblid | ENSG00000171365.17 |
| hgncid | 2023 |
| symbol | CLCN5 |
| name | chloride voltage-gated channel 5 |
| refseq_nuc | NM_001127898.4 |
| refseq_prot | NP_001121370.1 |
| ensembl_nuc | ENST00000376091.8 |
| ensembl_prot | ENSP00000365259.3 |
| mane_status | MANE Select |
| chr | chrX |
| start | 49922596 |
| end | 50099230 |
| strand | + |
| ver | v1.2 |
| region | chrX:49922596-50099230 |
| region5000 | chrX:49917596-50104230 |
| regionname0 | CLCN5_chrX_49922596_50099230 |
| regionname5000 | CLCN5_chrX_49917596_50104230 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 816 | 173 | 58 | 25 | 67 | 5 | 16 | 52 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| a0002 | 0/0 | 816 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| a0003 | 0/0 | 816 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| chapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 0/1 | 2451 | 143 | 31 | 23 | 67 | 5 | 16 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| c0002 | 0/0 | 2451 | 16 | 15 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| c0003 | 0/0 | 2451 | 8 | 7 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| c0004 | 1/0 | 2451 | 3 | 2 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| c0005 | 0/0 | 2451 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| c0006 | 0/0 | 2451 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| c0007 | 0/0 | 2451 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| c0008 | 0/0 | 2451 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| c0009 | 0/0 | 2451 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| thapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 1/0 | 7413 | 117 | 21 | 17 | 60 | 4 | 14 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| t0002 | 0/0 | 7413 | 11 | 11 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| t0003 | 0/0 | 7413 | 9 | 8 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| t0004 | 0/0 | 7413 | 5 | 5 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| t0005 | 0/0 | 7413 | 5 | 4 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| t0006 | 0/0 | 7413 | 2 | 0 | 0 | 2 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| t0007 | 0/0 | 7413 | 2 | 0 | 1 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| t0008 | 0/0 | 7413 | 2 | 0 | 2 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| t0009 | 0/0 | 7413 | 2 | 2 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| t0010 | 0/0 | 7413 | 2 | 2 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| t0011 | 0/1 | 7413 | 2 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| t0012 | 0/0 | 7413 | 1 | 0 | 0 | 0 | 1 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| t0013 | 0/0 | 7413 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| t0014 | 0/0 | 7413 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| t0015 | 0/0 | 7413 | 1 | 0 | 0 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| t0016 | 0/0 | 7416 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| t0017 | 0/0 | 7412 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| t0018 | 0/0 | 7413 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| t0019 | 0/0 | 7417 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| t0020 | 0/0 | 7413 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| t0021 | 0/0 | 7412 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| t0022 | 0/0 | 7413 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| t0023 | 0/0 | 7412 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| t0024 | 0/0 | 7413 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| t0025 | 0/0 | 7413 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| t0026 | 0/0 | 7413 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| t0027 | 0/0 | 7413 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| ghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0029 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0032 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0035 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0036 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0037 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0049 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0056 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0059 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0061 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0062 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0063 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0080 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0081 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0082 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0083 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0089 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0090 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0098 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0101 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0105 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0117 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0118 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0119 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0120 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0121 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0122 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0126 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0137 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0138 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0139 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0140 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0142 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0145 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0146 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0147 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0150 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0153 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0158 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0159 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0161 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0163 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0164 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0165 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0166 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0167 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0168 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0169 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0170 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0171 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0172 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0173 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0174 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| g0175 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| achapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/1 | 2451 | 143 | 31 | 23 | 67 | 5 | 16 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| a0001c0002 | 0/0 | 2451 | 16 | 15 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| a0001c0003 | 0/0 | 2451 | 8 | 7 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| a0001c0004 | 1/0 | 2451 | 3 | 2 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| a0001c0006 | 0/0 | 2451 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| a0001c0007 | 0/0 | 2451 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| a0001c0009 | 0/0 | 2451 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| a0002c0005 | 0/0 | 2451 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| a0003c0008 | 0/0 | 2451 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 9863 | 113 | 18 | 17 | 60 | 4 | 14 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| a0001c0001t0004 | 0/0 | 9863 | 2 | 2 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| a0001c0001t0005 | 0/0 | 9863 | 5 | 4 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| a0001c0001t0006 | 0/0 | 9863 | 2 | 0 | 0 | 2 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| a0001c0001t0007 | 0/0 | 9863 | 2 | 0 | 1 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| a0001c0001t0008 | 0/0 | 9863 | 2 | 0 | 2 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| a0001c0001t0010 | 0/0 | 9863 | 2 | 2 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| a0001c0001t0011 | 0/1 | 9863 | 2 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| a0001c0001t0012 | 0/0 | 9863 | 1 | 0 | 0 | 0 | 1 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| a0001c0001t0013 | 0/0 | 9863 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| a0001c0001t0014 | 0/0 | 9863 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| a0001c0001t0015 | 0/0 | 9863 | 1 | 0 | 0 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| a0001c0001t0016 | 0/0 | 9866 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| a0001c0001t0017 | 0/0 | 9862 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| a0001c0001t0018 | 0/0 | 9863 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| a0001c0001t0021 | 0/0 | 9862 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| a0001c0001t0022 | 0/0 | 9863 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| a0001c0001t0023 | 0/0 | 9862 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| a0001c0001t0025 | 0/0 | 9863 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| a0001c0001t0026 | 0/0 | 9863 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| a0001c0001t0027 | 0/0 | 9863 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| a0001c0002t0002 | 0/0 | 9863 | 10 | 10 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| a0001c0002t0004 | 0/0 | 9863 | 3 | 3 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| a0001c0002t0009 | 0/0 | 9863 | 2 | 2 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| a0001c0002t0024 | 0/0 | 9863 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| a0001c0003t0003 | 0/0 | 9863 | 8 | 7 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| a0001c0004t0001 | 1/0 | 9863 | 3 | 2 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| a0001c0006t0002 | 0/0 | 9863 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| a0001c0007t0001 | 0/0 | 9863 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| a0001c0009t0003 | 0/0 | 9863 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| a0002c0005t0020 | 0/0 | 9863 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| a0003c0008t0019 | 0/0 | 9867 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | copy fasta | chrX | 49917596 | 50104230 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0029 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0032 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0036 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0056 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0059 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0061 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0062 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0063 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0080 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0081 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0083 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0089 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0090 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0101 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0105 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0117 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0118 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0119 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0121 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0126 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0138 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0139 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0140 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0145 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0146 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0147 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0150 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0153 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0167 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0004g0163 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0004g0169 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0005g0170 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0005g0171 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0005g0172 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0005g0173 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0005g0174 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0006g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0006g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0007g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0007g0120 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0008g0082 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0008g0098 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0010g0158 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0010g0159 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0011g0035 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0011g0037 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0012g0142 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0013g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0014g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0015g0137 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0016g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0017g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0018g0122 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0021g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0022g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0023g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0025g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0026g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0027g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0002t0002g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0002t0002g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0002t0002g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0002t0002g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0002t0002g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0002t0002g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0002t0002g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0002t0002g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0002t0002g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0002t0002g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0002t0004g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0002t0004g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0002t0004g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0002t0009g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0002t0009g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0002t0024g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0003t0003g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0003t0003g0161 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0003t0003g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0003t0003g0164 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0003t0003g0165 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0003t0003g0166 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0003t0003g0168 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0003t0003g0175 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0004t0001g0049 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0004t0001g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0004t0001g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0006t0002g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0007t0001g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0009t0003g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0002c0005t0020g0001 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0003c0008t0019g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00140 | hp1 | a0001 | c0001 | t0001 | g0062 | EUR | GBR | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG00280 | hp1 | a0001 | c0001 | t0012 | g0142 | EUR | FIN | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG00609 | hp1 | a0001 | c0001 | t0001 | g0099 | EAS | CHS | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG00621 | hp1 | a0001 | c0001 | t0001 | g0109 | EAS | CHS | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG00642 | hp1 | a0001 | c0001 | t0001 | g0139 | AMR | PUR | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG00673 | hp1 | a0001 | c0001 | t0001 | g0156 | EAS | CHS | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG00738 | hp1 | a0001 | c0003 | t0003 | g0175 | AMR | PUR | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG00741 | hp1 | a0001 | c0001 | t0001 | g0095 | AMR | PUR | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG00741 | hp2 | a0001 | c0001 | t0001 | g0125 | AMR | PUR | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG01069 | hp1 | a0001 | c0001 | t0001 | g0067 | AMR | PUR | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG01070 | hp1 | a0001 | c0001 | t0001 | g0059 | AMR | PUR | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG01070 | hp2 | a0001 | c0001 | t0001 | g0126 | AMR | PUR | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG01074 | hp1 | a0001 | c0001 | t0001 | g0063 | AMR | PUR | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG01081 | hp1 | a0001 | c0001 | t0001 | g0138 | AMR | PUR | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG01081 | hp2 | a0001 | c0001 | t0005 | g0170 | AMR | PUR | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG01099 | hp1 | a0001 | c0001 | t0001 | g0081 | AMR | PUR | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG01106 | hp1 | a0001 | c0001 | t0001 | g0119 | AMR | PUR | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG01109 | hp1 | a0001 | c0001 | t0007 | g0093 | AMR | PUR | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG01167 | hp1 | a0001 | c0002 | t0024 | g0010 | AMR | PUR | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG01192 | hp1 | a0001 | c0001 | t0011 | g0037 | AMR | PUR | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG01243 | hp1 | a0001 | c0001 | t0001 | g0058 | AMR | PUR | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG01255 | hp1 | a0002 | c0005 | t0020 | g0001 | AMR | CLM | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG01258 | hp1 | a0001 | c0001 | t0001 | g0029 | AMR | CLM | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG01261 | hp1 | a0001 | c0001 | t0001 | g0089 | AMR | CLM | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG01358 | hp1 | a0001 | c0001 | t0018 | g0122 | AMR | CLM | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG01433 | hp1 | a0001 | c0001 | t0008 | g0082 | AMR | CLM | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG01515 | hp1 | a0001 | c0001 | t0001 | g0061 | EUR | IBS | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG01884 | hp1 | a0001 | c0003 | t0003 | g0164 | AFR | ACB | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG01884 | hp2 | a0001 | c0001 | t0016 | g0043 | AFR | ACB | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG01928 | hp1 | a0001 | c0001 | t0001 | g0030 | AMR | PEL | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG01934 | hp1 | a0001 | c0001 | t0001 | g0025 | AMR | PEL | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG01943 | hp1 | a0001 | c0001 | t0001 | g0057 | AMR | PEL | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG01952 | hp1 | a0001 | c0001 | t0008 | g0098 | AMR | PEL | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02015 | hp1 | a0001 | c0001 | t0026 | g0143 | EAS | KHV | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02027 | hp1 | a0001 | c0001 | t0001 | g0160 | EAS | KHV | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02040 | hp1 | a0001 | c0001 | t0001 | g0073 | EAS | KHV | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02055 | hp1 | a0001 | c0001 | t0001 | g0026 | AFR | ACB | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02056 | hp1 | a0001 | c0001 | t0001 | g0034 | EAS | KHV | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02071 | hp1 | a0001 | c0001 | t0001 | g0116 | EAS | KHV | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02074 | hp1 | a0001 | c0001 | t0001 | g0102 | EAS | KHV | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02083 | hp1 | a0001 | c0001 | t0001 | g0071 | EAS | KHV | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02129 | hp1 | a0001 | c0001 | t0013 | g0094 | EAS | KHV | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02132 | hp1 | a0001 | c0001 | t0001 | g0141 | EAS | KHV | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02135 | hp1 | a0001 | c0001 | t0001 | g0104 | EAS | KHV | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02145 | hp1 | a0001 | c0002 | t0002 | g0009 | AFR | ACB | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02258 | hp1 | a0001 | c0004 | t0001 | g0055 | AFR | ACB | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02280 | hp1 | a0001 | c0003 | t0003 | g0168 | AFR | ACB | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02280 | hp2 | a0001 | c0001 | t0001 | g0023 | AFR | ACB | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02300 | hp1 | a0001 | c0001 | t0001 | g0105 | AMR | PEL | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02451 | hp1 | a0001 | c0001 | t0001 | g0044 | AFR | ACB | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02451 | hp2 | a0001 | c0001 | t0001 | g0124 | AFR | ACB | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02572 | hp1 | a0001 | c0001 | t0001 | g0076 | AFR | GWD | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02602 | hp1 | a0001 | c0001 | t0001 | g0083 | SAS | PJL | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02615 | hp1 | a0001 | c0001 | t0001 | g0127 | AFR | GWD | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02615 | hp2 | a0001 | c0002 | t0002 | g0007 | AFR | GWD | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02622 | hp1 | a0001 | c0001 | t0010 | g0158 | AFR | GWD | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02622 | hp2 | a0001 | c0002 | t0004 | g0016 | AFR | GWD | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02630 | hp1 | a0001 | c0001 | t0001 | g0024 | AFR | GWD | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02630 | hp2 | a0001 | c0002 | t0009 | g0015 | AFR | GWD | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02647 | hp1 | a0001 | c0001 | t0001 | g0086 | AFR | GWD | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02698 | hp1 | a0001 | c0001 | t0001 | g0121 | SAS | PJL | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02717 | hp1 | a0001 | c0001 | t0014 | g0045 | AFR | GWD | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02723 | hp1 | a0001 | c0001 | t0001 | g0167 | AFR | GWD | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02723 | hp2 | a0001 | c0006 | t0002 | g0133 | AFR | GWD | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02735 | hp1 | a0001 | c0001 | t0001 | g0090 | SAS | PJL | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02738 | hp1 | a0001 | c0001 | t0007 | g0120 | SAS | PJL | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02809 | hp1 | a0001 | c0002 | t0002 | g0128 | AFR | GWD | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02809 | hp2 | a0001 | c0001 | t0001 | g0123 | AFR | GWD | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02886 | hp1 | a0001 | c0001 | t0001 | g0050 | AFR | GWD | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02886 | hp2 | a0001 | c0003 | t0003 | g0165 | AFR | GWD | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02895 | hp1 | a0001 | c0001 | t0001 | g0077 | AFR | GWD | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02922 | hp1 | a0001 | c0001 | t0001 | g0131 | AFR | ESN | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02922 | hp2 | a0001 | c0003 | t0003 | g0018 | AFR | ESN | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02965 | hp1 | a0001 | c0002 | t0004 | g0003 | AFR | ESN | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02970 | hp1 | a0001 | c0007 | t0001 | g0028 | AFR | ESN | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02970 | hp2 | a0001 | c0002 | t0002 | g0013 | AFR | ESN | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02976 | hp1 | a0001 | c0002 | t0002 | g0008 | AFR | ESN | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02976 | hp2 | a0001 | c0001 | t0005 | g0173 | AFR | ESN | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG03017 | hp1 | a0001 | c0001 | t0001 | g0146 | SAS | PJL | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG03041 | hp1 | a0001 | c0002 | t0002 | g0011 | AFR | GWD | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG03041 | hp2 | a0001 | c0001 | t0023 | g0078 | AFR | GWD | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG03098 | hp1 | a0001 | c0001 | t0001 | g0079 | AFR | MSL | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG03130 | hp1 | a0001 | c0002 | t0002 | g0014 | AFR | ESN | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG03139 | hp1 | a0001 | c0001 | t0001 | g0027 | AFR | ESN | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG03195 | hp1 | a0001 | c0001 | t0021 | g0088 | AFR | ESN | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG03195 | hp2 | a0001 | c0003 | t0003 | g0162 | AFR | ESN | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG03209 | hp1 | a0001 | c0001 | t0004 | g0169 | AFR | MSL | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG03225 | hp1 | a0001 | c0001 | t0027 | g0132 | AFR | MSL | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG03453 | hp1 | a0001 | c0009 | t0003 | g0005 | AFR | MSL | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG03453 | hp2 | a0001 | c0004 | t0001 | g0051 | AFR | MSL | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG03486 | hp1 | a0001 | c0001 | t0010 | g0159 | AFR | MSL | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG03486 | hp2 | a0001 | c0002 | t0002 | g0004 | AFR | MSL | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG03490 | hp1 | a0001 | c0001 | t0001 | g0140 | SAS | PJL | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG03492 | hp1 | a0001 | c0001 | t0001 | g0147 | SAS | PJL | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG03579 | hp1 | a0001 | c0001 | t0001 | g0087 | AFR | MSL | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG03654 | hp1 | a0001 | c0001 | t0001 | g0117 | SAS | PJL | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG03688 | hp1 | a0001 | c0001 | t0001 | g0036 | SAS | STU | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG03710 | hp1 | a0001 | c0001 | t0015 | g0137 | SAS | PJL | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG03942 | hp1 | a0001 | c0001 | t0001 | g0080 | SAS | BEB | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG04115 | hp1 | a0001 | c0001 | t0001 | g0101 | SAS | STU | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG04199 | hp1 | a0001 | c0001 | t0001 | g0032 | SAS | STU | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG04204 | hp1 | a0001 | c0001 | t0001 | g0118 | SAS | STU | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG04228 | hp1 | a0001 | c0001 | t0001 | g0150 | SAS | STU | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18522 | hp1 | a0001 | c0002 | t0002 | g0006 | AFR | YRI | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18612 | hp1 | a0001 | c0001 | t0001 | g0097 | EAS | CHB | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18747 | hp1 | a0001 | c0001 | t0001 | g0031 | EAS | CHB | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18940 | hp1 | a0001 | c0001 | t0001 | g0157 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18943 | hp1 | a0001 | c0001 | t0025 | g0092 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18944 | hp1 | a0001 | c0001 | t0001 | g0110 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18945 | hp1 | a0001 | c0001 | t0001 | g0064 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18948 | hp1 | a0001 | c0001 | t0001 | g0154 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18952 | hp1 | a0001 | c0001 | t0001 | g0053 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18959 | hp1 | a0001 | c0001 | t0001 | g0144 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18960 | hp1 | a0001 | c0001 | t0001 | g0046 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18961 | hp1 | a0001 | c0001 | t0001 | g0020 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18962 | hp1 | a0001 | c0001 | t0001 | g0021 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18965 | hp1 | a0001 | c0001 | t0001 | g0033 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18966 | hp1 | a0001 | c0001 | t0001 | g0130 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18967 | hp1 | a0001 | c0001 | t0001 | g0152 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18970 | hp1 | a0001 | c0001 | t0001 | g0155 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18971 | hp1 | a0001 | c0001 | t0001 | g0038 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18974 | hp1 | a0003 | c0008 | t0019 | g0039 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18977 | hp1 | a0001 | c0001 | t0001 | g0072 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18982 | hp1 | a0001 | c0001 | t0001 | g0065 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18983 | hp1 | a0001 | c0001 | t0001 | g0096 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18984 | hp1 | a0001 | c0001 | t0001 | g0042 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18986 | hp1 | a0001 | c0001 | t0001 | g0074 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18988 | hp1 | a0001 | c0001 | t0001 | g0148 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18989 | hp1 | a0001 | c0001 | t0001 | g0019 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18990 | hp1 | a0001 | c0001 | t0017 | g0113 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18994 | hp1 | a0001 | c0001 | t0001 | g0084 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18995 | hp1 | a0001 | c0001 | t0022 | g0115 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19000 | hp1 | a0001 | c0001 | t0001 | g0100 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19004 | hp1 | a0001 | c0001 | t0001 | g0114 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19005 | hp1 | a0001 | c0001 | t0001 | g0149 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19006 | hp1 | a0001 | c0001 | t0001 | g0107 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19007 | hp1 | a0001 | c0001 | t0001 | g0068 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19009 | hp1 | a0001 | c0001 | t0006 | g0135 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19012 | hp1 | a0001 | c0001 | t0001 | g0151 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19030 | hp1 | a0001 | c0001 | t0004 | g0163 | AFR | LWK | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19030 | hp2 | a0001 | c0001 | t0005 | g0174 | AFR | LWK | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19043 | hp1 | a0001 | c0002 | t0004 | g0002 | AFR | LWK | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19056 | hp1 | a0001 | c0001 | t0001 | g0085 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19058 | hp1 | a0001 | c0001 | t0001 | g0060 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19060 | hp1 | a0001 | c0001 | t0001 | g0103 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19062 | hp1 | a0001 | c0001 | t0001 | g0040 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19063 | hp1 | a0001 | c0001 | t0001 | g0069 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19066 | hp1 | a0001 | c0001 | t0006 | g0134 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19067 | hp1 | a0001 | c0001 | t0001 | g0111 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19068 | hp1 | a0001 | c0001 | t0001 | g0047 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19070 | hp1 | a0001 | c0001 | t0001 | g0108 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19072 | hp1 | a0001 | c0001 | t0001 | g0136 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19075 | hp1 | a0001 | c0001 | t0001 | g0112 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19076 | hp1 | a0001 | c0001 | t0001 | g0048 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19079 | hp1 | a0001 | c0001 | t0001 | g0041 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19083 | hp1 | a0001 | c0001 | t0001 | g0106 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19085 | hp1 | a0001 | c0001 | t0001 | g0070 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19086 | hp1 | a0001 | c0001 | t0001 | g0022 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19088 | hp1 | a0001 | c0001 | t0001 | g0052 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19089 | hp1 | a0001 | c0001 | t0001 | g0091 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19091 | hp1 | a0001 | c0001 | t0001 | g0066 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA20129 | hp1 | a0001 | c0001 | t0005 | g0171 | AFR | ASW | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA20129 | hp2 | a0001 | c0002 | t0009 | g0017 | AFR | ASW | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA20752 | hp1 | a0001 | c0001 | t0001 | g0056 | EUR | TSI | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA20805 | hp1 | a0001 | c0001 | t0001 | g0153 | EUR | TSI | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA20905 | hp1 | a0001 | c0001 | t0001 | g0145 | SAS | GIH | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02486 | hp1 | a0001 | c0003 | t0003 | g0166 | AFR | ACB | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG03471 | hp1 | a0001 | c0003 | t0003 | g0161 | AFR | MSL | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG06807 | hp1 | a0001 | c0001 | t0001 | g0054 | AFR | USA | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG06807 | hp2 | a0001 | c0001 | t0005 | g0172 | AFR | USA | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18955 | hp1 | a0001 | c0001 | t0001 | g0129 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA20300 | hp1 | a0001 | c0002 | t0002 | g0012 | AFR | USA | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA20300 | hp2 | a0001 | c0001 | t0001 | g0075 | AFR | USA | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| homoSapiens_chm13v2 | hp1 | a0001 | c0001 | t0011 | g0035 | REF | REF | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| homoSapiens_grch38 | hp1 | a0001 | c0004 | t0001 | g0049 | REF | REF | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| 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:50080626
|
G | A | 1 | a0002 | 1 | HG01255.hp1 | missense_variant | MODERATE | c.636G>A | p.Met212Ile | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 8/15 | 1037/9863 | 636/2451 | 212/816 | chrX | 50080626 | ||
| chrX:50080655
|
TC | T | 1 | a0003 | 1 | NA18974.hp1 | frameshift_variant | HIGH | c.667delC | p.Ala224fs | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 8/15 | 1068/9863 | 667/2451 | 223/816 | INFO_REALIGN_3_PRIME | chrX | 50080655 | |
| chrX:50080678
|
G | GT | 1 | a0003 | 1 | NA18974.hp1 | frameshift_variant | HIGH | c.689dupT | p.Phe231fs | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 8/15 | 1091/9863 | 690/2451 | 230/816 | INFO_REALIGN_3_PRIME | chrX | 50080678 |
| 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:50042407
|
C | T | 2 | a0001c0002a0001c0009 | 17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
synonymous_variant | LOW | c.108C>T | p.Thr36Thr | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/15 | 509/9863 | 108/2451 | 36/816 | chrX | 50042407 | ||
| chrX:50081733
|
A | G | 8 | a0001c0001a0001c0002a0001c0003others(5): Show | 172 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(169): Show |
synonymous_variant | LOW | c.819A>G | p.Ser273Ser | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 9/15 | 1220/9863 | 819/2451 | 273/816 | chrX | 50081733 | ||
| chrX:50086516
|
G | C | 2 | a0001c0003a0001c0009 | 9 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(6): Show |
synonymous_variant | LOW | c.1203G>C | p.Leu401Leu | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 11/15 | 1604/9863 | 1203/2451 | 401/816 | chrX | 50086516 | ||
| chrX:50086570
|
C | T | 1 | a0001c0007 | 1 | HG02970.hp1 | synonymous_variant | LOW | c.1257C>T | p.Thr419Thr | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 11/15 | 1658/9863 | 1257/2451 | 419/816 | chrX | 50086570 | ||
| chrX:50086786
|
C | T | 1 | a0001c0009 | 1 | HG03453.hp1 | synonymous_variant | LOW | c.1473C>T | p.Gly491Gly | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 11/15 | 1874/9863 | 1473/2451 | 491/816 | chrX | 50086786 | ||
| chrX:50090285
|
C | T | 2 | a0001c0002a0001c0006 | 17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
synonymous_variant | LOW | c.1914C>T | p.Pro638Pro | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 13/15 | 2315/9863 | 1914/2451 | 638/816 | chrX | 50090285 |
| 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:50093082
|
A | G | 1 | a0001c0001t0027 | 1 | HG03225.hp1 | 3_prime_UTR_variant | MODIFIER | c.*863A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 863 | chrX | 50093082 | |||||
| chrX:50093088
|
A | G | 1 | a0001c0001t0011 | 2 | HG01192.hp1 homoSapiens_chm13v2.hp1 |
3_prime_UTR_variant | MODIFIER | c.*869A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 869 | chrX | 50093088 | |||||
| chrX:50093291
|
A | T | 1 | a0001c0001t0026 | 1 | HG02015.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1072A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 1072 | chrX | 50093291 | |||||
| chrX:50093839
|
A | G | 1 | a0001c0001t0025 | 1 | NA18943.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1620A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 1620 | chrX | 50093839 | |||||
| chrX:50093942
|
G | A | 1 | a0001c0001t0012 | 1 | HG00280.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1723G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 1723 | chrX | 50093942 | |||||
| chrX:50093954
|
T | C | 1 | a0001c0001t0006 | 2 | NA19009.hp1 NA19066.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1735T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 1735 | chrX | 50093954 | |||||
| chrX:50094005
|
G | A | 1 | a0001c0001t0013 | 1 | HG02129.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1786G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 1786 | chrX | 50094005 | |||||
| chrX:50094372
|
T | G | 1 | a0001c0001t0027 | 1 | HG03225.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2153T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 2153 | chrX | 50094372 | |||||
| chrX:50095079
|
T | C | 1 | a0001c0001t0007 | 2 | HG01109.hp1 HG02738.hp1 |
3_prime_UTR_variant | MODIFIER | c.*2860T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 2860 | chrX | 50095079 | |||||
| chrX:50095243
|
A | G | 1 | a0001c0001t0010 | 2 | HG02622.hp1 HG03486.hp1 |
3_prime_UTR_variant | MODIFIER | c.*3024A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 3024 | chrX | 50095243 | |||||
| chrX:50095474
|
C | T | 4 | a0001c0002t0002a0001c0002t0009a0001c0002t0024others(1): Show | 14 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(11): Show |
3_prime_UTR_variant | MODIFIER | c.*3255C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 3255 | chrX | 50095474 | |||||
| chrX:50095628
|
A | G | 1 | a0001c0001t0005 | 5 | HG01081.hp2 HG02976.hp2 HG06807.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*3409A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 3409 | chrX | 50095628 | |||||
| chrX:50095742
|
C | T | 1 | a0001c0002t0024 | 1 | HG01167.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3523C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 3523 | chrX | 50095742 | |||||
| chrX:50095871
|
T | C | 9 | a0001c0001t0004a0001c0001t0027a0001c0002t0002others(6): Show | 29 | HG00738.hp1 HG01167.hp1 HG01884.hp1 others(26): Show |
3_prime_UTR_variant | MODIFIER | c.*3652T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 3652 | chrX | 50095871 | |||||
| chrX:50095922
|
A | G | 1 | a0001c0001t0027 | 1 | HG03225.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3703A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 3703 | chrX | 50095922 | |||||
| chrX:50095971
|
T | G | 1 | a0001c0001t0014 | 1 | HG02717.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3752T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 3752 | chrX | 50095971 | |||||
| chrX:50096192
|
AC | A | 1 | a0001c0001t0023 | 1 | HG03041.hp2 | 3_prime_UTR_variant | MODIFIER | c.*3976delC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 3976 | INFO_REALIGN_3_PRIME | chrX | 50096192 | ||||
| chrX:50096411
|
C | T | 1 | a0001c0002t0009 | 2 | HG02630.hp2 NA20129.hp2 |
3_prime_UTR_variant | MODIFIER | c.*4192C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 4192 | chrX | 50096411 | |||||
| chrX:50096754
|
A | G | 1 | a0001c0001t0022 | 1 | NA18995.hp1 | 3_prime_UTR_variant | MODIFIER | c.*4535A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 4535 | chrX | 50096754 | |||||
| chrX:50096832
|
CA | C | 1 | a0001c0001t0021 | 1 | HG03195.hp1 | 3_prime_UTR_variant | MODIFIER | c.*4616delA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 4616 | INFO_REALIGN_3_PRIME | chrX | 50096832 | ||||
| chrX:50096911
|
C | T | 1 | a0002c0005t0020 | 1 | HG01255.hp1 | 3_prime_UTR_variant | MODIFIER | c.*4692C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 4692 | chrX | 50096911 | |||||
| chrX:50096967
|
A | G | 1 | a0001c0001t0010 | 2 | HG02622.hp1 HG03486.hp1 |
3_prime_UTR_variant | MODIFIER | c.*4748A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 4748 | chrX | 50096967 | |||||
| chrX:50097185
|
A | ATTTC | 1 | a0003c0008t0019 | 1 | NA18974.hp1 | 3_prime_UTR_variant | MODIFIER | c.*4968_*4971dupTTCT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 4972 | INFO_REALIGN_3_PRIME | chrX | 50097185 | ||||
| chrX:50097359
|
A | G | 1 | a0001c0001t0018 | 1 | HG01358.hp1 | 3_prime_UTR_variant | MODIFIER | c.*5140A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 5140 | chrX | 50097359 | |||||
| chrX:50097363
|
C | T | 2 | a0001c0003t0003a0001c0009t0003 | 9 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(6): Show |
3_prime_UTR_variant | MODIFIER | c.*5144C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 5144 | chrX | 50097363 | |||||
| chrX:50097556
|
TA | T | 1 | a0001c0001t0017 | 1 | NA18990.hp1 | 3_prime_UTR_variant | MODIFIER | c.*5349delA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 5349 | INFO_REALIGN_3_PRIME | chrX | 50097556 | ||||
| chrX:50098175
|
T | C | 9 | a0001c0001t0004a0001c0001t0027a0001c0002t0002others(6): Show | 29 | HG00738.hp1 HG01167.hp1 HG01884.hp1 others(26): Show |
3_prime_UTR_variant | MODIFIER | c.*5956T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 5956 | chrX | 50098175 | |||||
| chrX:50098362
|
C | T | 1 | a0001c0001t0008 | 2 | HG01433.hp1 HG01952.hp1 |
3_prime_UTR_variant | MODIFIER | c.*6143C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 6143 | chrX | 50098362 | |||||
| chrX:50098493
|
T | TGTA | 1 | a0001c0001t0016 | 1 | HG01884.hp2 | 3_prime_UTR_variant | MODIFIER | c.*6278_*6280dupGTA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 6281 | INFO_REALIGN_3_PRIME | chrX | 50098493 | ||||
| chrX:50098555
|
G | A | 1 | a0001c0001t0010 | 2 | HG02622.hp1 HG03486.hp1 |
3_prime_UTR_variant | MODIFIER | c.*6336G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 6336 | chrX | 50098555 | |||||
| chrX:50098757
|
G | A | 1 | a0001c0001t0015 | 1 | HG03710.hp1 | 3_prime_UTR_variant | MODIFIER | c.*6538G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 6538 | chrX | 50098757 |
| 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:49922870
|
C | A | 1 | a0002c0005t0020g0001 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.-205+78C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 1/14 | chrX | 49922870 | ||||||
| chrX:49923056
|
C | T | 1 | a0001c0003t0003g0175 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.-205+264C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 1/14 | chrX | 49923056 | ||||||
| chrX:49924145
|
A | AT | 21 | a0001c0001t0001g0138a0001c0001t0001g0139a0001c0001t0001g0140others(18): Show | 21 | HG00280.hp1 HG00642.hp1 HG00673.hp1 others(18): Show |
intron_variant | MODIFIER | c.-129+680dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chrX | 49924145 | |||||
| chrX:49924145
|
A | ATT | 3 | a0001c0001t0001g0160a0001c0001t0010g0158a0001c0001t0010g0159 | 3 | HG02027.hp1 HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.-129+679_-129+680d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chrX | 49924145 | |||||
| chrX:49924145
|
A | ATTTTTT | 9 | a0001c0001t0001g0167a0001c0001t0004g0163a0001c0003t0003g0161others(6): Show | 9 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.-129+675_-129+680d others(8): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chrX | 49924145 | |||||
| chrX:49924145
|
A | ATTTTTTT | 1 | a0001c0001t0004g0169 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.-129+674_-129+680d others(9): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chrX | 49924145 | |||||
| chrX:49924145
|
A | ATTTTTTT others(10): Show |
4 | a0001c0001t0005g0170a0001c0001t0005g0171a0001c0001t0005g0172others(1): Show | 4 | HG01081.hp2 HG02976.hp2 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.-129+664_-129+680d others(19): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chrX | 49924145 | |||||
| chrX:49924145
|
A | ATTTTTTT others(11): Show |
1 | a0001c0001t0005g0174 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-129+680_-129+681i others(20): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chrX | 49924145 | |||||
| chrX:49924145
|
ATT | A | 18 | a0001c0002t0002g0004a0001c0002t0002g0006a0001c0002t0002g0007others(15): Show | 18 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(15): Show |
intron_variant | MODIFIER | c.-129+679_-129+680d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chrX | 49924145 | |||||
| chrX:49924408
|
C | T | 1 | a0002c0005t0020g0001 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.-128-763C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 2/14 | chrX | 49924408 | ||||||
| chrX:49924456
|
C | G | 2 | a0001c0001t0001g0167a0001c0003t0003g0168 | 2 | HG02280.hp1 HG02723.hp1 |
intron_variant | MODIFIER | c.-128-715C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 2/14 | chrX | 49924456 | ||||||
| chrX:49924545
|
T | C | 2 | a0001c0001t0010g0158a0001c0001t0010g0159 | 2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.-128-626T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 2/14 | chrX | 49924545 | ||||||
| chrX:49924752
|
CA | C | 1 | a0001c0001t0001g0136 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.-128-416delA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chrX | 49924752 | |||||
| chrX:49924778
|
CCTT | C | 1 | a0002c0005t0020g0001 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.-128-390_-128-388d others(5): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chrX | 49924778 | |||||
| chrX:49924997
|
C | T | 2 | a0001c0001t0006g0134a0001c0001t0006g0135 | 2 | NA19009.hp1 NA19066.hp1 |
intron_variant | MODIFIER | c.-128-174C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 2/14 | chrX | 49924997 | ||||||
| chrX:49925089
|
C | T | 6 | a0001c0001t0005g0170a0001c0001t0005g0171a0001c0001t0005g0172others(3): Show | 6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.-128-82C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 2/14 | chrX | 49925089 | ||||||
| chrX:49925718
|
TC | T | 1 | a0001c0001t0001g0136 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.16+407delC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49925718 | |||||
| chrX:49925976
|
C | T | 7 | a0001c0001t0005g0170a0001c0001t0005g0171a0001c0001t0005g0172others(4): Show | 7 | HG01081.hp2 HG01255.hp1 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.16+662C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49925976 | ||||||
| chrX:49926579
|
C | A | 1 | a0001c0001t0001g0019 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.16+1265C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49926579 | ||||||
| chrX:49926907
|
T | TAGAG | 37 | a0001c0001t0001g0167a0001c0001t0004g0163a0001c0001t0004g0169others(34): Show | 37 | HG00738.hp1 HG01081.hp2 HG01167.hp1 others(34): Show |
intron_variant | MODIFIER | c.16+1596_16+1597ins others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49926907 | |||||
| chrX:49927349
|
T | C | 3 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0022 | 3 | NA18961.hp1 NA18962.hp1 NA19086.hp1 |
intron_variant | MODIFIER | c.16+2035T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49927349 | ||||||
| chrX:49927700
|
G | GC | 1 | a0001c0001t0001g0136 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.16+2387dupC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49927700 | |||||
| chrX:49927754
|
T | C | 16 | a0001c0002t0002g0004a0001c0002t0002g0006a0001c0002t0002g0007others(13): Show | 16 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(13): Show |
intron_variant | MODIFIER | c.16+2440T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49927754 | ||||||
| chrX:49927764
|
A | G | 6 | a0001c0001t0005g0170a0001c0001t0005g0171a0001c0001t0005g0172others(3): Show | 6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.16+2450A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49927764 | ||||||
| chrX:49928413
|
T | C | 1 | a0001c0001t0027g0132 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.16+3099T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49928413 | ||||||
| chrX:49928519
|
TG | T | 1 | a0001c0001t0001g0136 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.16+3208delG | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49928519 | |||||
| chrX:49928586
|
CTGTT | C | 15 | a0001c0001t0001g0023a0001c0001t0001g0024a0001c0001t0001g0025others(12): Show | 15 | HG01192.hp1 HG01258.hp1 HG01928.hp1 others(12): Show |
intron_variant | MODIFIER | c.16+3275_16+3278del others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49928586 | |||||
| chrX:49928734
|
G | A | 6 | a0001c0001t0005g0170a0001c0001t0005g0171a0001c0001t0005g0172others(3): Show | 6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.16+3420G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49928734 | ||||||
| chrX:49928818
|
G | A | 30 | a0001c0001t0001g0167a0001c0001t0004g0163a0001c0001t0004g0169others(27): Show | 30 | HG00738.hp1 HG01167.hp1 HG01884.hp1 others(27): Show |
intron_variant | MODIFIER | c.16+3504G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49928818 | ||||||
| chrX:49929024
|
A | AG | 1 | a0001c0001t0001g0136 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.16+3712dupG | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49929024 | |||||
| chrX:49929329
|
T | C | 1 | a0001c0001t0001g0038 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.16+4015T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49929329 | ||||||
| chrX:49929470
|
C | T | 1 | a0001c0001t0001g0131 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.16+4156C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49929470 | ||||||
| chrX:49929535
|
A | G | 3 | a0001c0003t0003g0164a0001c0003t0003g0165a0001c0003t0003g0166 | 3 | HG01884.hp1 HG02486.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.16+4221A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49929535 | ||||||
| chrX:49929772
|
G | GTTT | 22 | a0001c0001t0005g0170a0001c0001t0005g0171a0001c0001t0005g0172others(19): Show | 22 | HG01081.hp2 HG01167.hp1 HG02145.hp1 others(19): Show |
intron_variant | MODIFIER | c.16+4462_16+4464dup others(3): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49929772 | |||||
| chrX:49929772
|
G | GTTTT | 12 | a0001c0001t0001g0167a0001c0001t0004g0163a0001c0001t0010g0159others(9): Show | 12 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.16+4461_16+4464dup others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49929772 | |||||
| chrX:49929772
|
G | GTTTTT | 2 | a0001c0001t0004g0169a0001c0003t0003g0166 | 2 | HG02486.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.16+4460_16+4464dup others(5): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49929772 | |||||
| chrX:49929779
|
G | GT | 6 | a0001c0001t0001g0151a0001c0001t0001g0152a0001c0001t0001g0153others(3): Show | 6 | HG00673.hp1 NA18948.hp1 NA18967.hp1 others(3): Show |
intron_variant | MODIFIER | c.16+4479dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49929779 | |||||
| chrX:49929779
|
G | GTT | 1 | a0001c0001t0001g0157 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.16+4478_16+4479dup others(2): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49929779 | |||||
| chrX:49929779
|
G | T | 37 | a0001c0001t0001g0167a0001c0001t0004g0163a0001c0001t0004g0169others(34): Show | 37 | HG00738.hp1 HG01081.hp2 HG01167.hp1 others(34): Show |
intron_variant | MODIFIER | c.16+4465G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49929779 | ||||||
| chrX:49929779
|
GT | G | 1 | a0001c0001t0001g0136 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.16+4479delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49929779 | |||||
| chrX:49930034
|
G | GA | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+4727dupA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49930034 | |||||
| chrX:49930140
|
A | AG | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+4827dupG | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49930140 | |||||
| chrX:49930462
|
C | CA | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+5149dupA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49930462 | |||||
| chrX:49930564
|
G | A | 6 | a0001c0001t0005g0170a0001c0001t0005g0171a0001c0001t0005g0172others(3): Show | 6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.16+5250G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49930564 | ||||||
| chrX:49930673
|
G | A | 37 | a0001c0001t0001g0167a0001c0001t0004g0163a0001c0001t0004g0169others(34): Show | 37 | HG00738.hp1 HG01081.hp2 HG01167.hp1 others(34): Show |
intron_variant | MODIFIER | c.16+5359G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49930673 | ||||||
| chrX:49931072
|
C | T | 6 | a0001c0001t0005g0170a0001c0001t0005g0171a0001c0001t0005g0172others(3): Show | 6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.16+5758C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49931072 | ||||||
| chrX:49931103
|
AT | A | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+5794delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49931103 | |||||
| chrX:49931542
|
AG | A | 1 | a0001c0001t0001g0040 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.16+6232delG | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49931542 | |||||
| chrX:49931607
|
T | C | 1 | a0001c0001t0015g0137 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.16+6293T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49931607 | ||||||
| chrX:49931651
|
AG | A | 1 | a0001c0001t0001g0040 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.16+6339delG | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49931651 | |||||
| chrX:49931706
|
A | G | 1 | a0001c0001t0027g0132 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.16+6392A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49931706 | ||||||
| chrX:49931733
|
C | CT | 3 | a0001c0001t0001g0022a0001c0001t0001g0130a0001c0002t0009g0015 | 3 | HG02630.hp2 NA18966.hp1 NA19086.hp1 |
intron_variant | MODIFIER | c.16+6434dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49931733 | |||||
| chrX:49931733
|
CT | C | 4 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0006g0134others(1): Show | 4 | NA18984.hp1 NA19009.hp1 NA19066.hp1 others(1): Show |
intron_variant | MODIFIER | c.16+6434delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49931733 | |||||
| chrX:49931869
|
C | T | 2 | a0001c0001t0010g0158a0001c0001t0010g0159 | 2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.16+6555C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49931869 | ||||||
| chrX:49931945
|
TC | T | 1 | a0001c0001t0001g0040 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.16+6634delC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49931945 | |||||
| chrX:49932224
|
C | T | 6 | a0001c0001t0005g0170a0001c0001t0005g0171a0001c0001t0005g0172others(3): Show | 6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.16+6910C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49932224 | ||||||
| chrX:49932375
|
C | A | 3 | a0001c0001t0010g0158a0001c0001t0010g0159a0001c0001t0027g0132 | 3 | HG02622.hp1 HG03225.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.16+7061C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49932375 | ||||||
| chrX:49932509
|
G | A | 1 | a0001c0003t0003g0164 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.16+7195G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49932509 | ||||||
| chrX:49932687
|
C | CA | 1 | a0001c0001t0001g0040 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.16+7379dupA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49932687 | |||||
| chrX:49933044
|
A | G | 21 | a0001c0001t0001g0040a0001c0001t0001g0140a0001c0001t0001g0141others(18): Show | 21 | HG00280.hp1 HG00673.hp1 HG02015.hp1 others(18): Show |
intron_variant | MODIFIER | c.16+7730A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49933044 | ||||||
| chrX:49933228
|
A | T | 2 | a0001c0001t0010g0158a0001c0001t0010g0159 | 2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.16+7914A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49933228 | ||||||
| chrX:49933278
|
C | G | 9 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0031others(6): Show | 9 | HG01192.hp1 HG01258.hp1 HG01928.hp1 others(6): Show |
intron_variant | MODIFIER | c.16+7964C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49933278 | ||||||
| chrX:49933361
|
A | C | 36 | a0001c0001t0001g0167a0001c0001t0004g0163a0001c0001t0004g0169others(33): Show | 36 | HG00738.hp1 HG01081.hp2 HG01167.hp1 others(33): Show |
intron_variant | MODIFIER | c.16+8047A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49933361 | ||||||
| chrX:49933662
|
T | TA | 1 | a0001c0001t0001g0040 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.16+8352dupA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49933662 | |||||
| chrX:49933936
|
G | T | 1 | a0001c0001t0001g0130 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.16+8622G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49933936 | ||||||
| chrX:49934220
|
T | TC | 1 | a0001c0001t0001g0040 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.16+8910dupC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49934220 | |||||
| chrX:49934312
|
C | T | 1 | a0001c0001t0001g0156 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.16+8998C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49934312 | ||||||
| chrX:49934389
|
C | T | 2 | a0001c0001t0010g0158a0001c0001t0010g0159 | 2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.16+9075C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49934389 | ||||||
| chrX:49934390
|
A | G | 37 | a0001c0001t0001g0167a0001c0001t0004g0163a0001c0001t0004g0169others(34): Show | 37 | HG00738.hp1 HG01081.hp2 HG01167.hp1 others(34): Show |
intron_variant | MODIFIER | c.16+9076A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49934390 | ||||||
| chrX:49934453
|
T | C | 16 | a0001c0002t0002g0004a0001c0002t0002g0006a0001c0002t0002g0007others(13): Show | 16 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(13): Show |
intron_variant | MODIFIER | c.16+9139T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49934453 | ||||||
| chrX:49934826
|
ATCT | A | 1 | a0001c0001t0016g0043 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.16+9516_16+9518del others(3): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49934826 | |||||
| chrX:49935038
|
C | T | 18 | a0001c0001t0005g0170a0001c0001t0005g0171a0001c0001t0005g0172others(15): Show | 18 | HG01081.hp2 HG01167.hp1 HG02145.hp1 others(15): Show |
intron_variant | MODIFIER | c.16+9724C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49935038 | ||||||
| chrX:49935259
|
A | G | 1 | a0001c0001t0001g0129 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.16+9945A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49935259 | ||||||
| chrX:49935315
|
G | A | 2 | a0001c0003t0003g0161a0001c0003t0003g0162 | 2 | HG03195.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.16+10001G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49935315 | ||||||
| chrX:49935361
|
G | A | 15 | a0001c0002t0002g0004a0001c0002t0002g0006a0001c0002t0002g0007others(12): Show | 15 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(12): Show |
intron_variant | MODIFIER | c.16+10047G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49935361 | ||||||
| chrX:49935497
|
T | G | 1 | a0001c0001t0001g0044 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.16+10183T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49935497 | ||||||
| chrX:49935596
|
C | CTGAA | 1 | a0001c0001t0001g0040 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.16+10284_16+10287d others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49935596 | |||||
| chrX:49935666
|
G | C | 2 | a0001c0001t0010g0158a0001c0001t0010g0159 | 2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.16+10352G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49935666 | ||||||
| chrX:49935686
|
TG | T | 1 | a0001c0001t0001g0040 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.16+10377delG | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49935686 | |||||
| chrX:49935728
|
C | T | 1 | a0001c0003t0003g0175 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.16+10414C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49935728 | ||||||
| chrX:49935744
|
TC | T | 1 | a0001c0001t0001g0040 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.16+10433delC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49935744 | |||||
| chrX:49936024
|
C | G | 45 | a0001c0001t0001g0027a0001c0001t0001g0123a0001c0001t0001g0124others(42): Show | 45 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(42): Show |
intron_variant | MODIFIER | c.16+10710C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49936024 | ||||||
| chrX:49936040
|
C | T | 3 | a0001c0002t0004g0002a0001c0002t0004g0003a0001c0002t0004g0016 | 3 | HG02622.hp2 HG02965.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.16+10726C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49936040 | ||||||
| chrX:49936076
|
A | C | 1 | a0001c0002t0002g0014 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.16+10762A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49936076 | ||||||
| chrX:49936439
|
A | G | 7 | a0001c0001t0001g0118a0001c0001t0001g0119a0001c0001t0001g0121others(4): Show | 7 | HG00642.hp1 HG01081.hp1 HG01106.hp1 others(4): Show |
intron_variant | MODIFIER | c.16+11125A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49936439 | ||||||
| chrX:49936498
|
G | A | 12 | a0001c0001t0001g0123a0001c0001t0001g0167a0001c0001t0004g0169others(9): Show | 12 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.16+11184G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49936498 | ||||||
| chrX:49936527
|
TG | T | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+11215delG | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49936527 | |||||
| chrX:49936533
|
G | A | 1 | a0001c0001t0015g0137 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.16+11219G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49936533 | ||||||
| chrX:49936653
|
G | C | 1 | a0001c0001t0014g0045 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.16+11339G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49936653 | ||||||
| chrX:49936683
|
G | T | 1 | a0001c0001t0001g0117 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.16+11369G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49936683 | ||||||
| chrX:49936760
|
TC | T | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+11449delC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49936760 | |||||
| chrX:49936791
|
G | A | 26 | a0001c0001t0001g0027a0001c0001t0001g0123a0001c0001t0001g0124others(23): Show | 26 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(23): Show |
intron_variant | MODIFIER | c.16+11477G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49936791 | ||||||
| chrX:49936874
|
G | T | 1 | a0001c0001t0001g0129 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.16+11560G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49936874 | ||||||
| chrX:49936949
|
T | TG | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+11637dupG | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49936949 | |||||
| chrX:49936954
|
G | A | 17 | a0001c0002t0002g0004a0001c0002t0002g0006a0001c0002t0002g0007others(14): Show | 17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.16+11640G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49936954 | ||||||
| chrX:49936965
|
C | T | 6 | a0001c0001t0005g0170a0001c0001t0005g0171a0001c0001t0005g0172others(3): Show | 6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.16+11651C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49936965 | ||||||
| chrX:49937288
|
G | C | 1 | a0001c0001t0001g0140 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.16+11974G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49937288 | ||||||
| chrX:49937639
|
A | T | 1 | a0001c0001t0001g0150 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.16+12325A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49937639 | ||||||
| chrX:49937690
|
A | C | 26 | a0001c0001t0001g0027a0001c0001t0001g0123a0001c0001t0001g0124others(23): Show | 26 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(23): Show |
intron_variant | MODIFIER | c.16+12376A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49937690 | ||||||
| chrX:49937700
|
A | G | 4 | a0001c0001t0001g0114a0001c0001t0001g0116a0001c0001t0017g0113others(1): Show | 4 | HG02071.hp1 NA18990.hp1 NA18995.hp1 others(1): Show |
intron_variant | MODIFIER | c.16+12386A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49937700 | ||||||
| chrX:49937781
|
G | C | 3 | a0001c0001t0001g0151a0001c0001t0001g0152a0001c0001t0001g0157 | 3 | NA18940.hp1 NA18967.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.16+12467G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49937781 | ||||||
| chrX:49937917
|
G | A | 1 | a0001c0001t0027g0132 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.16+12603G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49937917 | ||||||
| chrX:49938248
|
A | C | 14 | a0001c0001t0001g0123a0001c0001t0001g0167a0001c0001t0004g0169others(11): Show | 14 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.16+12934A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49938248 | ||||||
| chrX:49938667
|
A | G | 6 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0001t0001g0125others(3): Show | 6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.16+13353A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49938667 | ||||||
| chrX:49938913
|
G | A | 1 | a0001c0001t0001g0040 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.16+13599G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49938913 | ||||||
| chrX:49938973
|
C | T | 3 | a0001c0001t0004g0169a0001c0003t0003g0161a0001c0003t0003g0162 | 3 | HG03195.hp2 HG03209.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.16+13659C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49938973 | ||||||
| chrX:49938996
|
T | C | 3 | a0001c0001t0001g0023a0001c0001t0001g0024a0001c0001t0001g0025 | 3 | HG01934.hp1 HG02280.hp2 HG02630.hp1 |
intron_variant | MODIFIER | c.16+13682T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49938996 | ||||||
| chrX:49939113
|
G | T | 11 | a0001c0001t0001g0042a0001c0001t0001g0105a0001c0001t0001g0106others(8): Show | 11 | HG00621.hp1 HG02300.hp1 NA18944.hp1 others(8): Show |
intron_variant | MODIFIER | c.16+13799G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49939113 | ||||||
| chrX:49939234
|
T | TCCC | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+13922_16+13923i others(5): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49939234 | |||||
| chrX:49939337
|
A | AC | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+14024dupC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49939337 | |||||
| chrX:49939398
|
G | A | 1 | a0001c0003t0003g0161 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.16+14084G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49939398 | ||||||
| chrX:49939435
|
A | G | 6 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0001t0001g0125others(3): Show | 6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.16+14121A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49939435 | ||||||
| chrX:49939487
|
AG | A | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+14176delG | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49939487 | |||||
| chrX:49939576
|
A | G | 1 | a0001c0001t0018g0122 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.16+14262A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49939576 | ||||||
| chrX:49939626
|
C | T | 1 | a0001c0001t0001g0104 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.16+14312C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49939626 | ||||||
| chrX:49939644
|
A | G | 1 | a0001c0003t0003g0175 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.16+14330A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49939644 | ||||||
| chrX:49939666
|
C | T | 9 | a0001c0001t0001g0123a0001c0001t0001g0167a0001c0001t0004g0169others(6): Show | 9 | HG00738.hp1 HG02280.hp1 HG02723.hp1 others(6): Show |
intron_variant | MODIFIER | c.16+14352C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49939666 | ||||||
| chrX:49939734
|
C | T | 4 | a0001c0001t0001g0114a0001c0001t0001g0116a0001c0001t0017g0113others(1): Show | 4 | HG02071.hp1 NA18990.hp1 NA18995.hp1 others(1): Show |
intron_variant | MODIFIER | c.16+14420C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49939734 | ||||||
| chrX:49939796
|
G | A | 2 | a0001c0001t0010g0158a0001c0001t0010g0159 | 2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.16+14482G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49939796 | ||||||
| chrX:49939805
|
CT | C | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+14494delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49939805 | |||||
| chrX:49939855
|
TC | T | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+14543delC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49939855 | |||||
| chrX:49939911
|
A | C | 8 | a0001c0001t0001g0118a0001c0001t0001g0119a0001c0001t0001g0121others(5): Show | 8 | HG00642.hp1 HG01081.hp1 HG01106.hp1 others(5): Show |
intron_variant | MODIFIER | c.16+14597A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49939911 | ||||||
| chrX:49939927
|
C | G | 4 | a0001c0001t0001g0114a0001c0001t0001g0116a0001c0001t0017g0113others(1): Show | 4 | HG02071.hp1 NA18990.hp1 NA18995.hp1 others(1): Show |
intron_variant | MODIFIER | c.16+14613C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49939927 | ||||||
| chrX:49939948
|
TC | T | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+14636delC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49939948 | |||||
| chrX:49940051
|
C | G | 1 | a0001c0001t0001g0026 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.16+14737C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49940051 | ||||||
| chrX:49940065
|
G | GC | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+14753dupC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49940065 | |||||
| chrX:49940077
|
TTCAAA | T | 1 | a0001c0001t0001g0026 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.16+14766_16+14770d others(7): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49940077 | |||||
| chrX:49940105
|
C | G | 2 | a0001c0001t0010g0158a0001c0001t0010g0159 | 2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.16+14791C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49940105 | ||||||
| chrX:49940164
|
AT | A | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+14851delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49940164 | ||||||
| chrX:49940387
|
T | TC | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+15074dupC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49940387 | |||||
| chrX:49940399
|
GA | G | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+15087delA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49940399 | |||||
| chrX:49940426
|
T | TC | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+15114dupC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49940426 | |||||
| chrX:49940556
|
TG | T | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+15244delG | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49940556 | |||||
| chrX:49940563
|
A | AC | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+15250dupC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49940563 | |||||
| chrX:49940754
|
C | T | 2 | a0001c0001t0004g0163a0002c0005t0020g0001 | 2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.16+15440C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49940754 | ||||||
| chrX:49940822
|
T | TG | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+15513dupG | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49940822 | |||||
| chrX:49940869
|
T | G | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+15555T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49940869 | ||||||
| chrX:49940886
|
CA | C | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+15573delA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49940886 | ||||||
| chrX:49940902
|
A | AG | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+15589dupG | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49940902 | |||||
| chrX:49941030
|
T | A | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+15716T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49941030 | ||||||
| chrX:49941054
|
TG | T | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+15742delG | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49941054 | |||||
| chrX:49941065
|
AC | A | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+15753delC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49941065 | |||||
| chrX:49941076
|
C | T | 1 | a0001c0001t0001g0129 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.16+15762C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49941076 | ||||||
| chrX:49941172
|
A | AG | 3 | a0001c0003t0003g0164a0001c0003t0003g0165a0001c0003t0003g0166 | 3 | HG01884.hp1 HG02486.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.16+15858_16+15859i others(3): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49941172 | ||||||
| chrX:49941237
|
G | T | 1 | a0001c0001t0001g0116 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.16+15923G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49941237 | ||||||
| chrX:49941257
|
A | AG | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+15944dupG | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49941257 | |||||
| chrX:49941267
|
G | GC | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+15956dupC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49941267 | |||||
| chrX:49941311
|
ACT | A | 1 | a0001c0001t0015g0137 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.16+16000_16+16001d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49941311 | |||||
| chrX:49941435
|
A | C | 26 | a0001c0001t0001g0027a0001c0001t0001g0123a0001c0001t0001g0124others(23): Show | 26 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(23): Show |
intron_variant | MODIFIER | c.16+16121A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49941435 | ||||||
| chrX:49941441
|
T | TC | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+16129dupC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49941441 | |||||
| chrX:49941734
|
G | GT | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+16422dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49941734 | |||||
| chrX:49941748
|
G | T | 1 | a0001c0001t0001g0149 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.16+16434G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49941748 | ||||||
| chrX:49941770
|
TC | T | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+16458delC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49941770 | |||||
| chrX:49941840
|
C | T | 1 | a0001c0001t0001g0026 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.16+16526C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49941840 | ||||||
| chrX:49941901
|
T | C | 1 | a0001c0001t0001g0020 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.16+16587T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49941901 | ||||||
| chrX:49941920
|
C | CT | 46 | a0001c0001t0001g0026a0001c0001t0001g0036a0001c0001t0001g0040others(43): Show | 46 | HG00280.hp1 HG00609.hp1 HG00673.hp1 others(43): Show |
intron_variant | MODIFIER | c.16+16629dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49941920 | |||||
| chrX:49941920
|
C | CTT | 7 | a0001c0001t0001g0103a0001c0001t0001g0121a0001c0001t0001g0147others(4): Show | 7 | HG02698.hp1 HG03492.hp1 NA18967.hp1 others(4): Show |
intron_variant | MODIFIER | c.16+16628_16+16629d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49941920 | |||||
| chrX:49941920
|
C | CTTT | 6 | a0001c0001t0001g0150a0001c0001t0005g0170a0001c0001t0005g0171others(3): Show | 6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.16+16627_16+16629d others(5): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49941920 | |||||
| chrX:49941920
|
C | CTTTT | 7 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0001t0001g0125others(4): Show | 7 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(4): Show |
intron_variant | MODIFIER | c.16+16626_16+16629d others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49941920 | |||||
| chrX:49941920
|
C | CTTTTT | 2 | a0001c0001t0010g0159a0001c0007t0001g0028 | 2 | HG02970.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.16+16625_16+16629d others(7): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49941920 | |||||
| chrX:49941920
|
CT | C | 20 | a0001c0001t0001g0041a0001c0001t0001g0046a0001c0001t0001g0047others(17): Show | 20 | HG01167.hp1 HG01884.hp1 HG02145.hp1 others(17): Show |
intron_variant | MODIFIER | c.16+16629delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49941920 | |||||
| chrX:49941921
|
T | G | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+16607T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49941921 | ||||||
| chrX:49942026
|
T | TG | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+16712_16+16713i others(3): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942026 | ||||||
| chrX:49942039
|
G | A | 2 | a0001c0001t0004g0163a0002c0005t0020g0001 | 2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.16+16725G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942039 | ||||||
| chrX:49942098
|
CA | C | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+16786delA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49942098 | |||||
| chrX:49942121
|
CT | C | 12 | a0001c0001t0001g0123a0001c0001t0001g0167a0001c0001t0004g0169others(9): Show | 12 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.16+16815delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49942121 | |||||
| chrX:49942146
|
A | T | 174 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(171): Show | 174 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(171): Show |
intron_variant | MODIFIER | c.16+16832A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942146 | ||||||
| chrX:49942150
|
T | TC | 173 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(170): Show | 173 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(170): Show |
intron_variant | MODIFIER | c.16+16836_16+16837i others(3): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942150 | ||||||
| chrX:49942150
|
T | TCAACA | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+16836_16+16837i others(7): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942150 | ||||||
| chrX:49942152
|
G | A | 173 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(170): Show | 173 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(170): Show |
intron_variant | MODIFIER | c.16+16838G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942152 | ||||||
| chrX:49942153
|
A | C | 173 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(170): Show | 173 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(170): Show |
intron_variant | MODIFIER | c.16+16839A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942153 | ||||||
| chrX:49942154
|
A | T | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+16840A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942154 | ||||||
| chrX:49942155
|
T | A | 173 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(170): Show | 173 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(170): Show |
intron_variant | MODIFIER | c.16+16841T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942155 | ||||||
| chrX:49942155
|
T | G | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+16841T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942155 | ||||||
| chrX:49942156
|
G | C | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+16842G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942156 | ||||||
| chrX:49942157
|
A | C | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+16843A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942157 | ||||||
| chrX:49942159
|
T | C | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+16845T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942159 | ||||||
| chrX:49942160
|
T | G | 173 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(170): Show | 173 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(170): Show |
intron_variant | MODIFIER | c.16+16846T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942160 | ||||||
| chrX:49942162
|
G | C | 173 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(170): Show | 173 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(170): Show |
intron_variant | MODIFIER | c.16+16848G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942162 | ||||||
| chrX:49942164
|
G | A | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+16850G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942164 | ||||||
| chrX:49942164
|
G | C | 173 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(170): Show | 173 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(170): Show |
intron_variant | MODIFIER | c.16+16850G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942164 | ||||||
| chrX:49942165
|
TGG | T | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+16852_16+16853d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942165 | ||||||
| chrX:49942166
|
G | C | 173 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(170): Show | 173 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(170): Show |
intron_variant | MODIFIER | c.16+16852G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942166 | ||||||
| chrX:49942168
|
C | A | 173 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(170): Show | 173 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(170): Show |
intron_variant | MODIFIER | c.16+16854C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942168 | ||||||
| chrX:49942173
|
T | A | 173 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(170): Show | 173 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(170): Show |
intron_variant | MODIFIER | c.16+16859T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942173 | ||||||
| chrX:49942173
|
TTGTTG | T | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+16860_16+16864d others(7): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942173 | ||||||
| chrX:49942174
|
TG | T | 173 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(170): Show | 173 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(170): Show |
intron_variant | MODIFIER | c.16+16861delG | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942174 | ||||||
| chrX:49942177
|
T | C | 173 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(170): Show | 173 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(170): Show |
intron_variant | MODIFIER | c.16+16863T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942177 | ||||||
| chrX:49942178
|
G | T | 173 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(170): Show | 173 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(170): Show |
intron_variant | MODIFIER | c.16+16864G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942178 | ||||||
| chrX:49942183
|
A | T | 174 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(171): Show | 174 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(171): Show |
intron_variant | MODIFIER | c.16+16869A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942183 | ||||||
| chrX:49942191
|
A | C | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+16877A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942191 | ||||||
| chrX:49942451
|
T | C | 26 | a0001c0001t0001g0027a0001c0001t0001g0123a0001c0001t0001g0124others(23): Show | 26 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(23): Show |
intron_variant | MODIFIER | c.16+17137T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942451 | ||||||
| chrX:49942525
|
G | A | 1 | a0001c0001t0001g0104 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.16+17211G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942525 | ||||||
| chrX:49942547
|
T | TC | 1 | a0001c0001t0001g0151 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.16+17239dupC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49942547 | |||||
| chrX:49942554
|
T | TC | 5 | a0001c0001t0001g0103a0001c0001t0001g0111a0001c0001t0001g0150others(2): Show | 5 | HG02738.hp1 HG04228.hp1 NA18967.hp1 others(2): Show |
intron_variant | MODIFIER | c.16+17246dupC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49942554 | |||||
| chrX:49942561
|
T | G | 1 | a0001c0002t0002g0014 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.16+17247T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942561 | ||||||
| chrX:49942617
|
A | G | 1 | a0002c0005t0020g0001 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.16+17303A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942617 | ||||||
| chrX:49942659
|
T | G | 26 | a0001c0001t0001g0027a0001c0001t0001g0123a0001c0001t0001g0124others(23): Show | 26 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(23): Show |
intron_variant | MODIFIER | c.16+17345T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942659 | ||||||
| chrX:49942807
|
C | T | 26 | a0001c0001t0001g0027a0001c0001t0001g0123a0001c0001t0001g0124others(23): Show | 26 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(23): Show |
intron_variant | MODIFIER | c.16+17493C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942807 | ||||||
| chrX:49942853
|
C | T | 6 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0001t0001g0125others(3): Show | 6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.16+17539C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942853 | ||||||
| chrX:49942873
|
A | G | 1 | a0001c0001t0001g0160 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.16+17559A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942873 | ||||||
| chrX:49942994
|
T | G | 1 | a0002c0005t0020g0001 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.16+17680T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942994 | ||||||
| chrX:49943331
|
A | AT | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+18021dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49943331 | |||||
| chrX:49943380
|
T | C | 9 | a0001c0001t0001g0123a0001c0001t0001g0167a0001c0001t0004g0169others(6): Show | 9 | HG00738.hp1 HG02280.hp1 HG02723.hp1 others(6): Show |
intron_variant | MODIFIER | c.16+18066T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49943380 | ||||||
| chrX:49943398
|
T | C | 14 | a0001c0002t0002g0004a0001c0002t0002g0006a0001c0002t0002g0007others(11): Show | 14 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(11): Show |
intron_variant | MODIFIER | c.16+18084T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49943398 | ||||||
| chrX:49943446
|
C | T | 1 | a0001c0002t0002g0011 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.16+18132C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49943446 | ||||||
| chrX:49943529
|
G | GT | 14 | a0001c0001t0001g0123a0001c0001t0001g0167a0001c0001t0004g0169others(11): Show | 14 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.16+18219dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49943529 | |||||
| chrX:49943683
|
T | C | 1 | a0001c0001t0027g0132 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.16+18369T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49943683 | ||||||
| chrX:49943736
|
T | G | 1 | a0001c0001t0001g0036 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.16+18422T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49943736 | ||||||
| chrX:49943883
|
C | T | 45 | a0001c0001t0001g0027a0001c0001t0001g0123a0001c0001t0001g0124others(42): Show | 45 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(42): Show |
intron_variant | MODIFIER | c.16+18569C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49943883 | ||||||
| chrX:49943884
|
G | A | 1 | a0001c0001t0001g0050 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.16+18570G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49943884 | ||||||
| chrX:49943956
|
G | T | 1 | a0001c0001t0001g0117 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.16+18642G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49943956 | ||||||
| chrX:49944046
|
T | A | 2 | a0001c0001t0001g0167a0001c0003t0003g0168 | 2 | HG02280.hp1 HG02723.hp1 |
intron_variant | MODIFIER | c.16+18732T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49944046 | ||||||
| chrX:49944334
|
A | G | 1 | a0001c0001t0004g0163 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.16+19020A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49944334 | ||||||
| chrX:49944407
|
C | G | 1 | a0001c0001t0011g0037 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.16+19093C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49944407 | ||||||
| chrX:49944504
|
C | T | 1 | a0001c0001t0001g0157 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.16+19190C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49944504 | ||||||
| chrX:49944602
|
T | G | 45 | a0001c0001t0001g0027a0001c0001t0001g0123a0001c0001t0001g0124others(42): Show | 45 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(42): Show |
intron_variant | MODIFIER | c.16+19288T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49944602 | ||||||
| chrX:49944785
|
G | A | 1 | a0001c0001t0001g0160 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.16+19471G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49944785 | ||||||
| chrX:49944947
|
T | C | 1 | a0001c0003t0003g0164 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.16+19633T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49944947 | ||||||
| chrX:49945113
|
T | C | 9 | a0001c0002t0002g0004a0001c0002t0002g0006a0001c0002t0002g0007others(6): Show | 9 | HG02145.hp1 HG02615.hp2 HG02630.hp2 others(6): Show |
intron_variant | MODIFIER | c.16+19799T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49945113 | ||||||
| chrX:49945291
|
A | G | 2 | a0001c0001t0011g0035a0001c0001t0011g0037 | 2 | HG01192.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.16+19977A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49945291 | ||||||
| chrX:49945330
|
G | T | 14 | a0001c0001t0001g0123a0001c0001t0001g0167a0001c0001t0004g0169others(11): Show | 14 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.16+20016G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49945330 | ||||||
| chrX:49945362
|
G | C | 14 | a0001c0001t0001g0123a0001c0001t0001g0167a0001c0001t0004g0169others(11): Show | 14 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.16+20048G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49945362 | ||||||
| chrX:49945418
|
G | C | 1 | a0001c0004t0001g0051 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.16+20104G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49945418 | ||||||
| chrX:49945441
|
G | A | 1 | a0001c0001t0001g0052 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.16+20127G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49945441 | ||||||
| chrX:49945450
|
A | AT | 2 | a0001c0001t0010g0158a0001c0001t0010g0159 | 2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.16+20148dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49945450 | |||||
| chrX:49945594
|
C | T | 1 | a0002c0005t0020g0001 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.16+20280C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49945594 | ||||||
| chrX:49945604
|
G | GT | 18 | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0001t0001g0032others(15): Show | 18 | HG00609.hp1 HG01934.hp1 HG02055.hp1 others(15): Show |
intron_variant | MODIFIER | c.16+20313dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49945604 | |||||
| chrX:49945604
|
G | GTT | 1 | a0001c0002t0004g0016 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.16+20312_16+20313d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49945604 | |||||
| chrX:49945604
|
GT | G | 13 | a0001c0001t0001g0105a0001c0001t0001g0123a0001c0001t0001g0167others(10): Show | 13 | HG00738.hp1 HG02280.hp1 HG02300.hp1 others(10): Show |
intron_variant | MODIFIER | c.16+20313delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49945604 | |||||
| chrX:49945604
|
GTT | G | 5 | a0001c0001t0005g0170a0001c0001t0005g0171a0001c0001t0005g0172others(2): Show | 5 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.16+20312_16+20313d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49945604 | |||||
| chrX:49945604
|
GTTT | G | 6 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0001t0001g0125others(3): Show | 6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.16+20311_16+20313d others(5): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49945604 | |||||
| chrX:49945609
|
T | C | 2 | a0001c0003t0003g0161a0001c0003t0003g0162 | 2 | HG03195.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.16+20295T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49945609 | ||||||
| chrX:49945763
|
A | G | 4 | a0001c0001t0001g0081a0001c0001t0001g0117a0001c0001t0008g0082others(1): Show | 4 | HG01099.hp1 HG01433.hp1 HG01952.hp1 others(1): Show |
intron_variant | MODIFIER | c.16+20449A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49945763 | ||||||
| chrX:49946117
|
G | T | 26 | a0001c0001t0001g0027a0001c0001t0001g0123a0001c0001t0001g0124others(23): Show | 26 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(23): Show |
intron_variant | MODIFIER | c.16+20803G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49946117 | ||||||
| chrX:49946234
|
G | T | 1 | a0001c0001t0001g0034 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.16+20920G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49946234 | ||||||
| chrX:49946823
|
CT | C | 26 | a0001c0001t0001g0027a0001c0001t0001g0123a0001c0001t0001g0124others(23): Show | 26 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(23): Show |
intron_variant | MODIFIER | c.16+21518delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49946823 | |||||
| chrX:49946931
|
C | T | 2 | a0001c0001t0001g0138a0001c0001t0001g0139 | 2 | HG00642.hp1 HG01081.hp1 |
intron_variant | MODIFIER | c.16+21617C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49946931 | ||||||
| chrX:49947584
|
GA | G | 1 | a0001c0001t0001g0044 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.16+22273delA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49947584 | |||||
| chrX:49947679
|
T | A | 1 | a0001c0001t0001g0053 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.16+22365T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49947679 | ||||||
| chrX:49947787
|
G | A | 26 | a0001c0001t0001g0027a0001c0001t0001g0123a0001c0001t0001g0124others(23): Show | 26 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(23): Show |
intron_variant | MODIFIER | c.16+22473G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49947787 | ||||||
| chrX:49948063
|
C | T | 1 | a0001c0001t0001g0110 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.16+22749C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49948063 | ||||||
| chrX:49948160
|
C | CT | 15 | a0001c0001t0001g0123a0001c0001t0001g0167a0001c0001t0004g0169others(12): Show | 15 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(12): Show |
intron_variant | MODIFIER | c.16+22860dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49948160 | |||||
| chrX:49948160
|
CT | C | 2 | a0001c0001t0001g0153a0003c0008t0019g0039 | 2 | NA18974.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.16+22860delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49948160 | |||||
| chrX:49948449
|
G | GT | 1 | a0001c0001t0001g0148 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.16+23145dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49948449 | |||||
| chrX:49948632
|
C | T | 4 | a0001c0001t0001g0119a0001c0001t0001g0138a0001c0001t0001g0139others(1): Show | 4 | HG00642.hp1 HG01081.hp1 HG01106.hp1 others(1): Show |
intron_variant | MODIFIER | c.16+23318C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49948632 | ||||||
| chrX:49948864
|
T | C | 1 | a0001c0001t0001g0157 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.16+23550T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49948864 | ||||||
| chrX:49949140
|
G | A | 1 | a0002c0005t0020g0001 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.16+23826G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49949140 | ||||||
| chrX:49949468
|
A | T | 2 | a0001c0001t0006g0134a0001c0001t0006g0135 | 2 | NA19009.hp1 NA19066.hp1 |
intron_variant | MODIFIER | c.16+24154A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49949468 | ||||||
| chrX:49949592
|
A | AT | 1 | a0001c0001t0001g0112 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.16+24286dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49949592 | |||||
| chrX:49949838
|
A | G | 2 | a0001c0001t0004g0163a0002c0005t0020g0001 | 2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.16+24524A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49949838 | ||||||
| chrX:49949962
|
C | A | 2 | a0001c0001t0004g0163a0002c0005t0020g0001 | 2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.16+24648C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49949962 | ||||||
| chrX:49950135
|
GA | G | 1 | a0001c0001t0001g0041 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.16+24822delA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49950135 | ||||||
| chrX:49950730
|
T | TAGTA | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.16+25419_16+25420i others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49950730 | |||||
| chrX:49951253
|
C | T | 6 | a0001c0001t0005g0170a0001c0001t0005g0171a0001c0001t0005g0172others(3): Show | 6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.16+25939C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49951253 | ||||||
| chrX:49951330
|
G | A | 1 | a0001c0001t0001g0052 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.16+26016G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49951330 | ||||||
| chrX:49951443
|
A | G | 1 | a0001c0006t0002g0133 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.16+26129A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49951443 | ||||||
| chrX:49951687
|
G | A | 2 | a0001c0001t0001g0138a0001c0001t0001g0139 | 2 | HG00642.hp1 HG01081.hp1 |
intron_variant | MODIFIER | c.16+26373G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49951687 | ||||||
| chrX:49951807
|
C | T | 1 | a0002c0005t0020g0001 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.16+26493C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49951807 | ||||||
| chrX:49951946
|
A | T | 1 | a0001c0001t0001g0140 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.16+26632A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49951946 | ||||||
| chrX:49952368
|
C | CA | 2 | a0001c0001t0001g0081a0001c0001t0001g0112 | 2 | HG01099.hp1 NA19075.hp1 |
intron_variant | MODIFIER | c.16+27065dupA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49952368 | |||||
| chrX:49952499
|
G | GT | 97 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(94): Show | 97 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(94): Show |
intron_variant | MODIFIER | c.16+27195dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49952499 | |||||
| chrX:49952631
|
C | G | 1 | a0001c0001t0001g0080 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.16+27317C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49952631 | ||||||
| chrX:49952638
|
G | A | 2 | a0001c0001t0004g0163a0002c0005t0020g0001 | 2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.16+27324G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49952638 | ||||||
| chrX:49952875
|
C | CGT | 3 | a0001c0001t0001g0167a0001c0003t0003g0018a0001c0003t0003g0168 | 3 | HG02280.hp1 HG02723.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.16+27570_16+27571d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49952875 | |||||
| chrX:49952888
|
C | CT | 2 | a0001c0001t0001g0036a0001c0001t0001g0112 | 2 | HG03688.hp1 NA19075.hp1 |
intron_variant | MODIFIER | c.16+27591dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49952888 | |||||
| chrX:49952888
|
CT | C | 3 | a0001c0001t0001g0054a0001c0001t0001g0086a0001c0001t0001g0154 | 3 | HG02647.hp1 HG06807.hp1 NA18948.hp1 |
intron_variant | MODIFIER | c.16+27591delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49952888 | |||||
| chrX:49952924
|
C | T | 3 | a0001c0002t0004g0002a0001c0002t0004g0003a0001c0002t0004g0016 | 3 | HG02622.hp2 HG02965.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.16+27610C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49952924 | ||||||
| chrX:49952991
|
T | A | 1 | a0001c0004t0001g0055 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.16+27677T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49952991 | ||||||
| chrX:49953134
|
C | T | 1 | a0001c0001t0001g0146 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.16+27820C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49953134 | ||||||
| chrX:49953361
|
A | T | 5 | a0001c0001t0001g0050a0001c0001t0001g0054a0001c0001t0001g0058others(2): Show | 5 | HG01243.hp1 HG02647.hp1 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.16+28047A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49953361 | ||||||
| chrX:49953379
|
C | T | 5 | a0001c0001t0001g0050a0001c0001t0001g0054a0001c0001t0001g0058others(2): Show | 5 | HG01243.hp1 HG02647.hp1 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.16+28065C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49953379 | ||||||
| chrX:49953645
|
C | T | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.16+28331C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49953645 | ||||||
| chrX:49953826
|
A | T | 3 | a0001c0002t0004g0002a0001c0002t0004g0003a0001c0002t0004g0016 | 3 | HG02622.hp2 HG02965.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.16+28512A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49953826 | ||||||
| chrX:49953972
|
A | G | 1 | a0001c0001t0001g0020 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.16+28658A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49953972 | ||||||
| chrX:49953998
|
A | C | 1 | a0001c0001t0001g0157 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.16+28684A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49953998 | ||||||
| chrX:49954005
|
AATTT | A | 12 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0001t0001g0125others(9): Show | 12 | HG00741.hp2 HG01070.hp2 HG01081.hp2 others(9): Show |
intron_variant | MODIFIER | c.16+28698_16+28701d others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49954005 | |||||
| chrX:49954216
|
G | A | 2 | a0001c0001t0004g0163a0002c0005t0020g0001 | 2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.16+28902G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49954216 | ||||||
| chrX:49954350
|
AT | A | 1 | a0001c0001t0001g0021 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.16+29049delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49954350 | |||||
| chrX:49955306
|
C | T | 2 | a0001c0003t0003g0161a0001c0003t0003g0162 | 2 | HG03195.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.16+29992C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49955306 | ||||||
| chrX:49955393
|
G | GT | 3 | a0001c0001t0001g0036a0001c0001t0001g0151a0001c0001t0018g0122 | 3 | HG01358.hp1 HG03688.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.16+30092dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49955393 | |||||
| chrX:49955393
|
GT | G | 18 | a0001c0002t0002g0004a0001c0002t0002g0006a0001c0002t0002g0007others(15): Show | 18 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(15): Show |
intron_variant | MODIFIER | c.16+30092delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49955393 | |||||
| chrX:49955434
|
C | T | 1 | a0001c0003t0003g0162 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.16+30120C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49955434 | ||||||
| chrX:49955808
|
C | T | 6 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0001t0001g0125others(3): Show | 6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.16+30494C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49955808 | ||||||
| chrX:49955809
|
G | A | 2 | a0001c0001t0011g0035a0001c0001t0011g0037 | 2 | HG01192.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.16+30495G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49955809 | ||||||
| chrX:49955858
|
G | A | 1 | a0001c0001t0004g0169 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.16+30544G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49955858 | ||||||
| chrX:49955880
|
G | T | 2 | a0001c0001t0004g0163a0002c0005t0020g0001 | 2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.16+30566G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49955880 | ||||||
| chrX:49956254
|
G | A | 2 | a0001c0001t0004g0163a0002c0005t0020g0001 | 2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.16+30940G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49956254 | ||||||
| chrX:49956589
|
G | A | 1 | a0001c0003t0003g0175 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.16+31275G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49956589 | ||||||
| chrX:49956596
|
G | A | 2 | a0001c0001t0001g0053a0001c0001t0001g0099 | 2 | HG00609.hp1 NA18952.hp1 |
intron_variant | MODIFIER | c.16+31282G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49956596 | ||||||
| chrX:49956640
|
GACAGGTA others(5): Show |
G | 17 | a0001c0002t0002g0004a0001c0002t0002g0006a0001c0002t0002g0007others(14): Show | 17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.16+31330_16+31341d others(14): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49956640 | |||||
| chrX:49956807
|
G | A | 2 | a0001c0001t0001g0042a0001c0001t0001g0111 | 2 | NA18984.hp1 NA19067.hp1 |
intron_variant | MODIFIER | c.16+31493G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49956807 | ||||||
| chrX:49956853
|
C | T | 1 | a0002c0005t0020g0001 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.16+31539C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49956853 | ||||||
| chrX:49957269
|
C | G | 1 | a0001c0002t0024g0010 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.16+31955C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49957269 | ||||||
| chrX:49957278
|
C | T | 4 | a0001c0001t0001g0081a0001c0001t0001g0117a0001c0001t0008g0082others(1): Show | 4 | HG01099.hp1 HG01433.hp1 HG01952.hp1 others(1): Show |
intron_variant | MODIFIER | c.16+31964C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49957278 | ||||||
| chrX:49957424
|
T | G | 1 | a0001c0001t0001g0059 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.16+32110T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49957424 | ||||||
| chrX:49957952
|
G | A | 3 | a0001c0003t0003g0164a0001c0003t0003g0165a0001c0003t0003g0166 | 3 | HG01884.hp1 HG02486.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.16+32638G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49957952 | ||||||
| chrX:49958002
|
G | C | 1 | a0001c0001t0001g0034 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.16+32688G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49958002 | ||||||
| chrX:49958240
|
G | GT | 1 | a0001c0001t0004g0163 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.16+32936dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49958240 | |||||
| chrX:49958893
|
G | C | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.16+33579G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49958893 | ||||||
| chrX:49959039
|
C | CT | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.16+33734dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49959039 | |||||
| chrX:49959132
|
G | T | 1 | a0002c0005t0020g0001 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.16+33818G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49959132 | ||||||
| chrX:49959447
|
T | A | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.16+34133T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49959447 | ||||||
| chrX:49959691
|
C | T | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.16+34377C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49959691 | ||||||
| chrX:49959859
|
C | T | 3 | a0001c0003t0003g0164a0001c0003t0003g0165a0001c0003t0003g0166 | 3 | HG01884.hp1 HG02486.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.16+34545C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49959859 | ||||||
| chrX:49960586
|
C | G | 12 | a0001c0001t0001g0123a0001c0001t0001g0167a0001c0001t0004g0169others(9): Show | 12 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.16+35272C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49960586 | ||||||
| chrX:49961159
|
A | G | 17 | a0001c0002t0002g0004a0001c0002t0002g0006a0001c0002t0002g0007others(14): Show | 17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.16+35845A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49961159 | ||||||
| chrX:49961380
|
C | A | 1 | a0001c0001t0001g0026 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.16+36066C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49961380 | ||||||
| chrX:49961750
|
A | G | 1 | a0001c0001t0001g0114 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.16+36436A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49961750 | ||||||
| chrX:49961841
|
G | A | 6 | a0001c0001t0005g0170a0001c0001t0005g0171a0001c0001t0005g0172others(3): Show | 6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.16+36527G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49961841 | ||||||
| chrX:49961916
|
G | A | 2 | a0001c0001t0001g0032a0001c0001t0001g0036 | 2 | HG03688.hp1 HG04199.hp1 |
intron_variant | MODIFIER | c.16+36602G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49961916 | ||||||
| chrX:49962107
|
T | TC | 1 | a0001c0001t0001g0060 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.16+36796dupC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49962107 | |||||
| chrX:49962327
|
G | A | 88 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(85): Show | 88 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(85): Show |
intron_variant | MODIFIER | c.16+37013G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49962327 | ||||||
| chrX:49962383
|
T | A | 1 | a0001c0003t0003g0175 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.16+37069T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49962383 | ||||||
| chrX:49962384
|
C | T | 1 | a0001c0003t0003g0175 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.16+37070C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49962384 | ||||||
| chrX:49962542
|
A | T | 45 | a0001c0001t0001g0027a0001c0001t0001g0123a0001c0001t0001g0124others(42): Show | 45 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(42): Show |
intron_variant | MODIFIER | c.16+37228A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49962542 | ||||||
| chrX:49962594
|
T | TC | 1 | a0001c0001t0001g0112 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.16+37285dupC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49962594 | |||||
| chrX:49962650
|
G | GA | 1 | a0001c0001t0001g0060 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.16+37337dupA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49962650 | |||||
| chrX:49962839
|
C | G | 2 | a0001c0001t0010g0158a0001c0001t0010g0159 | 2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.16+37525C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49962839 | ||||||
| chrX:49963021
|
G | A | 12 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0001t0001g0125others(9): Show | 12 | HG00741.hp2 HG01070.hp2 HG01081.hp2 others(9): Show |
intron_variant | MODIFIER | c.16+37707G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49963021 | ||||||
| chrX:49963577
|
A | T | 1 | a0001c0003t0003g0162 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.16+38263A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49963577 | ||||||
| chrX:49963866
|
T | C | 6 | a0001c0001t0005g0170a0001c0001t0005g0171a0001c0001t0005g0172others(3): Show | 6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.16+38552T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49963866 | ||||||
| chrX:49963941
|
C | T | 1 | a0001c0001t0001g0102 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.16+38627C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49963941 | ||||||
| chrX:49964255
|
A | C | 1 | a0001c0001t0001g0060 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.16+38941A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49964255 | ||||||
| chrX:49964377
|
C | T | 1 | a0001c0001t0005g0173 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.16+39063C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49964377 | ||||||
| chrX:49964378
|
G | A | 1 | a0001c0002t0002g0004 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.16+39064G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49964378 | ||||||
| chrX:49964625
|
A | C | 1 | a0001c0001t0016g0043 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.16+39311A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49964625 | ||||||
| chrX:49964657
|
CTGTT | C | 2 | a0001c0001t0004g0163a0002c0005t0020g0001 | 2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.16+39345_16+39348d others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49964657 | |||||
| chrX:49964742
|
TA | T | 1 | a0001c0004t0001g0055 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.16+39429delA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49964742 | ||||||
| chrX:49964743
|
A | AT | 1 | a0001c0001t0001g0112 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.16+39437dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49964743 | |||||
| chrX:49964743
|
AT | A | 2 | a0001c0001t0006g0134a0001c0001t0006g0135 | 2 | NA19009.hp1 NA19066.hp1 |
intron_variant | MODIFIER | c.16+39437delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49964743 | |||||
| chrX:49964882
|
A | C | 1 | a0001c0001t0001g0123 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.16+39568A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49964882 | ||||||
| chrX:49965443
|
A | G | 1 | a0001c0001t0001g0145 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.16+40129A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49965443 | ||||||
| chrX:49965863
|
TGTG | T | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.16+40553_16+40555d others(5): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49965863 | |||||
| chrX:49965895
|
T | C | 6 | a0001c0002t0002g0006a0001c0002t0002g0007a0001c0002t0002g0008others(3): Show | 6 | HG02145.hp1 HG02615.hp2 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.16+40581T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49965895 | ||||||
| chrX:49965896
|
A | G | 1 | a0001c0001t0001g0085 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.16+40582A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49965896 | ||||||
| chrX:49965972
|
C | T | 14 | a0001c0001t0001g0123a0001c0001t0001g0167a0001c0001t0004g0169others(11): Show | 14 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.16+40658C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49965972 | ||||||
| chrX:49966060
|
T | TC | 14 | a0001c0001t0001g0123a0001c0001t0001g0167a0001c0001t0004g0169others(11): Show | 14 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.16+40747dupC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49966060 | |||||
| chrX:49966245
|
A | C | 6 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0001t0001g0125others(3): Show | 6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.16+40931A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49966245 | ||||||
| chrX:49966363
|
ATTTTCTT others(6): Show |
A | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.16+41052_16+41064d others(15): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49966363 | |||||
| chrX:49966577
|
TATATCTC others(2378): Show |
T | 45 | a0001c0001t0001g0027a0001c0001t0001g0123a0001c0001t0001g0124others(42): Show | 45 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(42): Show |
intron_variant | MODIFIER | c.16+41279_16+43663d others(2): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49966577 | |||||
| chrX:49966589
|
C | CT | 16 | a0001c0001t0001g0038a0001c0001t0001g0042a0001c0001t0001g0074others(13): Show | 16 | HG00280.hp1 HG00621.hp1 HG01109.hp1 others(13): Show |
intron_variant | MODIFIER | c.16+41297dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49966589 | |||||
| chrX:49966589
|
C | CTT | 12 | a0001c0001t0001g0026a0001c0001t0001g0053a0001c0001t0001g0085others(9): Show | 12 | HG02027.hp1 HG02055.hp1 HG02135.hp1 others(9): Show |
intron_variant | MODIFIER | c.16+41296_16+41297d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49966589 | |||||
| chrX:49966589
|
C | CTTT | 6 | a0001c0001t0001g0075a0001c0001t0001g0095a0001c0001t0001g0147others(3): Show | 6 | HG00741.hp1 HG03492.hp1 HG03710.hp1 others(3): Show |
intron_variant | MODIFIER | c.16+41295_16+41297d others(5): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49966589 | |||||
| chrX:49966589
|
C | CTTTT | 1 | a0001c0001t0017g0113 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.16+41294_16+41297d others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49966589 | |||||
| chrX:49966589
|
C | CTTTTT | 1 | a0001c0001t0001g0096 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.16+41293_16+41297d others(7): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49966589 | |||||
| chrX:49966589
|
C | CTTTTTT | 2 | a0001c0001t0001g0019a0001c0001t0001g0097 | 2 | NA18612.hp1 NA18989.hp1 |
intron_variant | MODIFIER | c.16+41292_16+41297d others(8): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49966589 | |||||
| chrX:49966589
|
C | CTTTTTTT others(1): Show |
1 | a0001c0001t0001g0156 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.16+41290_16+41297d others(10): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49966589 | |||||
| chrX:49966589
|
C | CTTTTTTT others(2): Show |
1 | a0001c0001t0007g0120 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.16+41289_16+41297d others(11): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49966589 | |||||
| chrX:49966603
|
T | A | 5 | a0001c0001t0001g0050a0001c0001t0001g0054a0001c0001t0001g0058others(2): Show | 5 | HG01243.hp1 HG02647.hp1 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.16+41289T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49966603 | ||||||
| chrX:49966603
|
TTTTTTTT others(10): Show |
T | 4 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0063others(1): Show | 4 | HG00140.hp1 HG01074.hp1 HG01515.hp1 others(1): Show |
intron_variant | MODIFIER | c.16+41301_16+41317d others(19): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49966603 | |||||
| chrX:49966605
|
TTTTTTTA others(8): Show |
T | 1 | a0001c0001t0001g0105 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.16+41298_16+41312d others(17): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49966605 | |||||
| chrX:49966608
|
T | TA | 5 | a0001c0001t0001g0056a0001c0001t0001g0081a0001c0001t0001g0117others(2): Show | 5 | HG01099.hp1 HG01433.hp1 HG01952.hp1 others(2): Show |
intron_variant | MODIFIER | c.16+41294_16+41295i others(3): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49966608 | ||||||
| chrX:49966608
|
TTTTA | T | 4 | a0001c0001t0001g0044a0001c0001t0001g0064a0001c0001t0001g0065others(1): Show | 4 | HG02132.hp1 HG02451.hp1 NA18945.hp1 others(1): Show |
intron_variant | MODIFIER | c.16+41298_16+41301d others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49966608 | |||||
| chrX:49966609
|
T | A | 2 | a0001c0001t0001g0023a0001c0001t0001g0025 | 2 | HG01934.hp1 HG02280.hp2 |
intron_variant | MODIFIER | c.16+41295T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49966609 | ||||||
| chrX:49966609
|
T | TA | 1 | a0001c0001t0011g0035 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.16+41295_16+41296i others(3): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49966609 | ||||||
| chrX:49966609
|
TTTA | T | 2 | a0001c0001t0001g0048a0001c0001t0001g0106 | 2 | NA19076.hp1 NA19083.hp1 |
intron_variant | MODIFIER | c.16+41298_16+41300d others(5): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49966609 | |||||
| chrX:49966610
|
TTA | T | 14 | a0001c0001t0001g0023a0001c0001t0001g0024a0001c0001t0001g0025others(11): Show | 14 | HG00642.hp1 HG01081.hp1 HG01106.hp1 others(11): Show |
intron_variant | MODIFIER | c.16+41298_16+41299d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49966610 | |||||
| chrX:49966610
|
TTATTTTT others(3): Show |
T | 1 | a0001c0001t0001g0102 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.16+41298_16+41307d others(12): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49966610 | |||||
| chrX:49966611
|
T | A | 1 | a0001c0001t0001g0034 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.16+41297T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49966611 | ||||||
| chrX:49966611
|
TA | T | 16 | a0001c0001t0001g0021a0001c0001t0001g0033a0001c0001t0001g0041others(13): Show | 16 | HG01069.hp1 HG01261.hp1 HG02083.hp1 others(13): Show |
intron_variant | MODIFIER | c.16+41298delA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49966611 | ||||||
| chrX:49966612
|
A | AT | 4 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0031others(1): Show | 4 | HG01258.hp1 HG01928.hp1 HG01943.hp1 others(1): Show |
intron_variant | MODIFIER | c.16+41305dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49966612 | |||||
| chrX:49966612
|
A | T | 79 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0022others(76): Show | 79 | HG00280.hp1 HG00609.hp1 HG00621.hp1 others(76): Show |
intron_variant | MODIFIER | c.16+41298A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49966612 | ||||||
| chrX:49966613
|
T | A | 2 | a0001c0001t0001g0032a0001c0001t0001g0036 | 2 | HG03688.hp1 HG04199.hp1 |
intron_variant | MODIFIER | c.16+41299T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49966613 | ||||||
| chrX:49966613
|
T | TA | 1 | a0001c0001t0016g0043 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.16+41299_16+41300i others(3): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49966613 | ||||||
| chrX:49966620
|
A | T | 92 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(89): Show | 92 | HG00280.hp1 HG00609.hp1 HG00621.hp1 others(89): Show |
intron_variant | MODIFIER | c.16+41306A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49966620 | ||||||
| chrX:49966755
|
A | G | 1 | a0001c0001t0001g0087 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.16+41441A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49966755 | ||||||
| chrX:49966760
|
T | TC | 2 | a0001c0001t0001g0060a0001c0001t0001g0084 | 2 | NA18994.hp1 NA19058.hp1 |
intron_variant | MODIFIER | c.16+41452dupC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49966760 | |||||
| chrX:49966774
|
A | AC | 1 | a0001c0001t0001g0060 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.16+41464dupC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49966774 | |||||
| chrX:49967113
|
C | G | 3 | a0001c0001t0001g0042a0001c0001t0001g0111a0001c0001t0007g0120 | 3 | HG02738.hp1 NA18984.hp1 NA19067.hp1 |
intron_variant | MODIFIER | c.16+41799C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49967113 | ||||||
| chrX:49967116
|
A | C | 3 | a0001c0001t0001g0042a0001c0001t0001g0111a0001c0001t0007g0120 | 3 | HG02738.hp1 NA18984.hp1 NA19067.hp1 |
intron_variant | MODIFIER | c.16+41802A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49967116 | ||||||
| chrX:49967208
|
G | GT | 1 | a0001c0001t0001g0060 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.16+41896dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49967208 | |||||
| chrX:49967260
|
G | A | 1 | a0001c0001t0001g0145 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.16+41946G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49967260 | ||||||
| chrX:49967550
|
G | A | 2 | a0001c0001t0001g0144a0001c0001t0001g0148 | 2 | NA18959.hp1 NA18988.hp1 |
intron_variant | MODIFIER | c.16+42236G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49967550 | ||||||
| chrX:49967617
|
C | G | 1 | a0001c0001t0001g0119 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.16+42303C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49967617 | ||||||
| chrX:49967754
|
A | G | 1 | a0001c0001t0001g0065 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.16+42440A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49967754 | ||||||
| chrX:49968206
|
A | G | 14 | a0001c0001t0001g0023a0001c0001t0001g0024a0001c0001t0001g0025others(11): Show | 14 | HG01192.hp1 HG01258.hp1 HG01928.hp1 others(11): Show |
intron_variant | MODIFIER | c.16+42892A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49968206 | ||||||
| chrX:49968276
|
A | C | 1 | a0001c0001t0001g0064 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.16+42962A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49968276 | ||||||
| chrX:49968476
|
T | C | 1 | a0001c0001t0001g0090 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.16+43162T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49968476 | ||||||
| chrX:49968561
|
TG | T | 1 | a0001c0001t0001g0060 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.16+43251delG | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49968561 | |||||
| chrX:49969023
|
T | G | 17 | a0001c0002t0002g0004a0001c0002t0002g0006a0001c0002t0002g0007others(14): Show | 17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.16+43709T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49969023 | ||||||
| chrX:49969088
|
T | C | 1 | a0001c0001t0001g0146 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.16+43774T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49969088 | ||||||
| chrX:49969102
|
A | G | 45 | a0001c0001t0001g0027a0001c0001t0001g0123a0001c0001t0001g0124others(42): Show | 45 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(42): Show |
intron_variant | MODIFIER | c.16+43788A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49969102 | ||||||
| chrX:49969201
|
C | A | 6 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0001t0001g0125others(3): Show | 6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.16+43887C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49969201 | ||||||
| chrX:49969996
|
C | A | 170 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(167): Show | 170 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(167): Show |
intron_variant | MODIFIER | c.16+44682C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49969996 | ||||||
| chrX:49970345
|
C | A | 2 | a0001c0001t0004g0163a0002c0005t0020g0001 | 2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.16+45031C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49970345 | ||||||
| chrX:49970631
|
A | G | 1 | a0001c0001t0001g0114 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.16+45317A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49970631 | ||||||
| chrX:49970660
|
GT | G | 1 | a0001c0001t0001g0060 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.16+45348delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49970660 | |||||
| chrX:49970789
|
T | C | 1 | a0001c0001t0004g0163 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.16+45475T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49970789 | ||||||
| chrX:49971213
|
A | AAT | 1 | a0001c0003t0003g0165 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.16+45913_16+45914d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49971213 | |||||
| chrX:49971326
|
A | G | 2 | a0001c0001t0001g0154a0001c0001t0001g0155 | 2 | NA18948.hp1 NA18970.hp1 |
intron_variant | MODIFIER | c.16+46012A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49971326 | ||||||
| chrX:49971333
|
C | T | 6 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0001t0001g0125others(3): Show | 6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.16+46019C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49971333 | ||||||
| chrX:49971385
|
G | C | 28 | a0001c0001t0001g0027a0001c0001t0001g0123a0001c0001t0001g0124others(25): Show | 28 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(25): Show |
intron_variant | MODIFIER | c.16+46071G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49971385 | ||||||
| chrX:49971541
|
A | G | 6 | a0001c0001t0005g0170a0001c0001t0005g0171a0001c0001t0005g0172others(3): Show | 6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.16+46227A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49971541 | ||||||
| chrX:49971569
|
T | C | 3 | a0001c0003t0003g0164a0001c0003t0003g0165a0001c0003t0003g0166 | 3 | HG01884.hp1 HG02486.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.16+46255T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49971569 | ||||||
| chrX:49971615
|
G | A | 1 | a0001c0001t0001g0034 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.16+46301G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49971615 | ||||||
| chrX:49971688
|
G | A | 2 | a0001c0001t0004g0163a0002c0005t0020g0001 | 2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.16+46374G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49971688 | ||||||
| chrX:49971792
|
C | T | 45 | a0001c0001t0001g0027a0001c0001t0001g0123a0001c0001t0001g0124others(42): Show | 45 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(42): Show |
intron_variant | MODIFIER | c.16+46478C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49971792 | ||||||
| chrX:49971806
|
T | G | 14 | a0001c0001t0001g0123a0001c0001t0001g0167a0001c0001t0004g0169others(11): Show | 14 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.16+46492T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49971806 | ||||||
| chrX:49971917
|
G | A | 1 | a0001c0001t0001g0085 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.16+46603G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49971917 | ||||||
| chrX:49972005
|
A | T | 6 | a0001c0001t0005g0170a0001c0001t0005g0171a0001c0001t0005g0172others(3): Show | 6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.16+46691A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49972005 | ||||||
| chrX:49972011
|
G | C | 1 | a0001c0001t0001g0083 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.16+46697G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49972011 | ||||||
| chrX:49972103
|
GC | G | 1 | a0001c0001t0001g0102 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.16+46790delC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49972103 | ||||||
| chrX:49972112
|
G | GGT | 15 | a0001c0001t0001g0040a0001c0001t0001g0063a0001c0001t0001g0071others(12): Show | 15 | HG00642.hp1 HG01074.hp1 HG01358.hp1 others(12): Show |
intron_variant | MODIFIER | c.16+46845_16+46846d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49972112 | |||||
| chrX:49972112
|
G | GGTGT | 5 | a0001c0001t0001g0060a0001c0001t0001g0112a0001c0001t0001g0118others(2): Show | 5 | HG02698.hp1 HG04204.hp1 NA18974.hp1 others(2): Show |
intron_variant | MODIFIER | c.16+46843_16+46846d others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49972112 | |||||
| chrX:49972112
|
GGT | G | 56 | a0001c0001t0001g0020a0001c0001t0001g0022a0001c0001t0001g0031others(53): Show | 56 | HG00280.hp1 HG00609.hp1 HG00621.hp1 others(53): Show |
intron_variant | MODIFIER | c.16+46845_16+46846d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49972112 | |||||
| chrX:49972112
|
GGTGT | G | 26 | a0001c0001t0001g0021a0001c0001t0001g0023a0001c0001t0001g0025others(23): Show | 26 | HG01258.hp1 HG01433.hp1 HG01928.hp1 others(23): Show |
intron_variant | MODIFIER | c.16+46843_16+46846d others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49972112 | |||||
| chrX:49972112
|
GGTGTGT | G | 12 | a0001c0001t0001g0024a0001c0001t0001g0048a0001c0001t0001g0050others(9): Show | 12 | HG00741.hp1 HG01109.hp1 HG01243.hp1 others(9): Show |
intron_variant | MODIFIER | c.16+46841_16+46846d others(8): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49972112 | |||||
| chrX:49972112
|
GGTGTGTG others(1): Show |
G | 23 | a0001c0001t0001g0032a0001c0001t0001g0047a0001c0001t0001g0076others(20): Show | 23 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(20): Show |
intron_variant | MODIFIER | c.16+46839_16+46846d others(10): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49972112 | |||||
| chrX:49972112
|
GGTGTGTG others(3): Show |
G | 5 | a0001c0001t0001g0027a0001c0001t0001g0044a0001c0001t0001g0124others(2): Show | 5 | HG02451.hp1 HG02451.hp2 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.16+46837_16+46846d others(12): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49972112 | |||||
| chrX:49972112
|
GGTGTGTG others(7): Show |
G | 3 | a0001c0003t0003g0164a0001c0003t0003g0165a0001c0003t0003g0166 | 3 | HG01884.hp1 HG02486.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.16+46833_16+46846d others(16): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49972112 | |||||
| chrX:49972112
|
GGTGTGTG others(9): Show |
G | 3 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0105 | 3 | HG00140.hp1 HG01515.hp1 HG02300.hp1 |
intron_variant | MODIFIER | c.16+46831_16+46846d others(18): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49972112 | |||||
| chrX:49972112
|
GGTGTGTG others(11): Show |
G | 2 | a0001c0001t0004g0163a0002c0005t0020g0001 | 2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.16+46829_16+46846d others(20): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49972112 | |||||
| chrX:49972383
|
T | C | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.16+47069T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49972383 | ||||||
| chrX:49972518
|
C | T | 5 | a0001c0002t0002g0006a0001c0002t0002g0007a0001c0002t0002g0008others(2): Show | 5 | HG02145.hp1 HG02615.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.16+47204C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49972518 | ||||||
| chrX:49973480
|
C | CATTAGGT | 9 | a0001c0001t0001g0123a0001c0001t0001g0167a0001c0001t0004g0169others(6): Show | 9 | HG00738.hp1 HG02280.hp1 HG02723.hp1 others(6): Show |
intron_variant | MODIFIER | c.16+48168_16+48169i others(9): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49973480 | |||||
| chrX:49973659
|
C | CT | 1 | a0001c0001t0001g0099 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.16+48357dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49973659 | |||||
| chrX:49973939
|
T | C | 3 | a0001c0002t0004g0002a0001c0002t0004g0003a0001c0002t0004g0016 | 3 | HG02622.hp2 HG02965.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.16+48625T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49973939 | ||||||
| chrX:49974074
|
G | A | 14 | a0001c0001t0001g0123a0001c0001t0001g0167a0001c0001t0004g0163others(11): Show | 14 | HG00738.hp1 HG01255.hp1 HG01884.hp1 others(11): Show |
intron_variant | MODIFIER | c.16+48760G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49974074 | ||||||
| chrX:49974316
|
G | C | 1 | a0001c0001t0016g0043 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.16+49002G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49974316 | ||||||
| chrX:49974412
|
C | CT | 19 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0001t0001g0125others(16): Show | 19 | HG00741.hp2 HG01070.hp2 HG01081.hp2 others(16): Show |
intron_variant | MODIFIER | c.16+49109dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49974412 | |||||
| chrX:49974790
|
G | A | 2 | a0001c0001t0010g0158a0001c0001t0010g0159 | 2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.16+49476G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49974790 | ||||||
| chrX:49974957
|
T | C | 1 | a0001c0002t0002g0128 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.16+49643T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49974957 | ||||||
| chrX:49975165
|
T | C | 1 | a0001c0001t0001g0019 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.16+49851T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49975165 | ||||||
| chrX:49976326
|
G | A | 6 | a0001c0001t0005g0170a0001c0001t0005g0171a0001c0001t0005g0172others(3): Show | 6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.16+51012G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49976326 | ||||||
| chrX:49976356
|
C | G | 2 | a0001c0002t0002g0007a0001c0002t0002g0009 | 2 | HG02145.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.16+51042C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49976356 | ||||||
| chrX:49976593
|
A | G | 2 | a0001c0001t0011g0035a0001c0001t0011g0037 | 2 | HG01192.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.16+51279A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49976593 | ||||||
| chrX:49976623
|
G | A | 1 | a0001c0001t0001g0081 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.16+51309G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49976623 | ||||||
| chrX:49976886
|
A | G | 3 | a0001c0003t0003g0164a0001c0003t0003g0165a0001c0003t0003g0166 | 3 | HG01884.hp1 HG02486.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.16+51572A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49976886 | ||||||
| chrX:49977174
|
A | G | 1 | a0001c0002t0002g0013 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.16+51860A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49977174 | ||||||
| chrX:49978354
|
A | G | 2 | a0001c0001t0004g0163a0002c0005t0020g0001 | 2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.16+53040A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49978354 | ||||||
| chrX:49978495
|
A | C | 1 | a0001c0001t0001g0089 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.16+53181A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49978495 | ||||||
| chrX:49978554
|
T | C | 45 | a0001c0001t0001g0027a0001c0001t0001g0123a0001c0001t0001g0124others(42): Show | 45 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(42): Show |
intron_variant | MODIFIER | c.16+53240T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49978554 | ||||||
| chrX:49978818
|
T | C | 1 | a0001c0001t0001g0054 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.16+53504T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49978818 | ||||||
| chrX:49978835
|
CT | C | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+53526delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49978835 | |||||
| chrX:49978924
|
G | T | 14 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0001t0001g0125others(11): Show | 14 | HG00741.hp2 HG01070.hp2 HG01081.hp2 others(11): Show |
intron_variant | MODIFIER | c.16+53610G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49978924 | ||||||
| chrX:49979153
|
AC | A | 1 | a0001c0001t0027g0132 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.16+53841delC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49979153 | |||||
| chrX:49979268
|
T | C | 45 | a0001c0001t0001g0027a0001c0001t0001g0123a0001c0001t0001g0124others(42): Show | 45 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(42): Show |
intron_variant | MODIFIER | c.16+53954T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49979268 | ||||||
| chrX:49979926
|
A | T | 1 | a0001c0001t0001g0127 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.16+54612A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49979926 | ||||||
| chrX:49980051
|
A | G | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.16+54737A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49980051 | ||||||
| chrX:49980148
|
T | C | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.16+54834T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49980148 | ||||||
| chrX:49980170
|
A | G | 3 | a0001c0002t0004g0002a0001c0002t0004g0003a0001c0002t0004g0016 | 3 | HG02622.hp2 HG02965.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.16+54856A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49980170 | ||||||
| chrX:49980183
|
C | G | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.16+54869C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49980183 | ||||||
| chrX:49980185
|
T | G | 3 | a0001c0002t0004g0002a0001c0002t0004g0003a0001c0002t0004g0016 | 3 | HG02622.hp2 HG02965.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.16+54871T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49980185 | ||||||
| chrX:49980194
|
G | A | 12 | a0001c0001t0001g0123a0001c0001t0001g0167a0001c0001t0004g0169others(9): Show | 12 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.16+54880G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49980194 | ||||||
| chrX:49980735
|
C | T | 31 | a0001c0001t0001g0123a0001c0001t0001g0167a0001c0001t0004g0163others(28): Show | 31 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(28): Show |
intron_variant | MODIFIER | c.16+55421C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49980735 | ||||||
| chrX:49981050
|
G | A | 9 | a0001c0001t0001g0123a0001c0001t0001g0167a0001c0001t0004g0169others(6): Show | 9 | HG00738.hp1 HG02280.hp1 HG02723.hp1 others(6): Show |
intron_variant | MODIFIER | c.16+55736G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49981050 | ||||||
| chrX:49981178
|
G | A | 1 | a0001c0001t0001g0123 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.16+55864G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49981178 | ||||||
| chrX:49981693
|
C | CT | 10 | a0001c0001t0001g0025a0001c0001t0001g0031a0001c0001t0001g0046others(7): Show | 10 | HG01934.hp1 HG02809.hp2 NA18747.hp1 others(7): Show |
intron_variant | MODIFIER | c.16+56394dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49981693 | |||||
| chrX:49981693
|
CT | C | 21 | a0001c0001t0001g0042a0001c0001t0001g0100a0001c0001t0001g0111others(18): Show | 21 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(18): Show |
intron_variant | MODIFIER | c.16+56394delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49981693 | |||||
| chrX:49982051
|
T | C | 3 | a0001c0002t0004g0002a0001c0002t0004g0003a0001c0002t0004g0016 | 3 | HG02622.hp2 HG02965.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.16+56737T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49982051 | ||||||
| chrX:49982113
|
G | GA | 1 | a0001c0001t0001g0025 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.16+56809dupA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49982113 | |||||
| chrX:49982114
|
A | G | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.16+56800A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49982114 | ||||||
| chrX:49982201
|
G | A | 14 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0001t0001g0125others(11): Show | 14 | HG00741.hp2 HG01070.hp2 HG01081.hp2 others(11): Show |
intron_variant | MODIFIER | c.16+56887G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49982201 | ||||||
| chrX:49982702
|
C | T | 1 | a0001c0001t0001g0083 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.16+57388C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49982702 | ||||||
| chrX:49982760
|
C | T | 1 | a0001c0001t0001g0040 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.16+57446C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49982760 | ||||||
| chrX:49983102
|
A | AT | 1 | a0001c0001t0001g0060 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.16+57788_16+57789i others(3): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49983102 | ||||||
| chrX:49983245
|
A | G | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.16+57931A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49983245 | ||||||
| chrX:49984060
|
T | G | 17 | a0001c0002t0002g0004a0001c0002t0002g0006a0001c0002t0002g0007others(14): Show | 17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.17-58256T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49984060 | ||||||
| chrX:49984302
|
G | A | 9 | a0001c0001t0001g0123a0001c0001t0001g0167a0001c0001t0004g0169others(6): Show | 9 | HG00738.hp1 HG02280.hp1 HG02723.hp1 others(6): Show |
intron_variant | MODIFIER | c.17-58014G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49984302 | ||||||
| chrX:49984386
|
G | GC | 2 | a0001c0001t0001g0147a0001c0001t0001g0150 | 2 | HG03492.hp1 HG04228.hp1 |
intron_variant | MODIFIER | c.17-57928dupC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49984386 | |||||
| chrX:49984449
|
A | C | 171 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(168): Show | 171 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(168): Show |
intron_variant | MODIFIER | c.17-57867A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49984449 | ||||||
| chrX:49984490
|
A | G | 1 | a0001c0001t0001g0048 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.17-57826A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49984490 | ||||||
| chrX:49984975
|
G | GT | 5 | a0001c0001t0010g0158a0001c0001t0010g0159a0001c0003t0003g0164others(2): Show | 5 | HG01884.hp1 HG02486.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.17-57331dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49984975 | |||||
| chrX:49986138
|
C | T | 6 | a0001c0001t0005g0170a0001c0001t0005g0171a0001c0001t0005g0172others(3): Show | 6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.17-56178C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49986138 | ||||||
| chrX:49986410
|
C | CT | 17 | a0001c0002t0002g0004a0001c0002t0002g0006a0001c0002t0002g0007others(14): Show | 17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.17-55900dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49986410 | |||||
| chrX:49986634
|
G | A | 12 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0001t0001g0125others(9): Show | 12 | HG00741.hp2 HG01070.hp2 HG01081.hp2 others(9): Show |
intron_variant | MODIFIER | c.17-55682G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49986634 | ||||||
| chrX:49987131
|
CATTTTTT | C | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-55184_17-55178d others(9): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49987131 | ||||||
| chrX:49987139
|
G | T | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-55177G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49987139 | ||||||
| chrX:49987141
|
A | G | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-55175A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49987141 | ||||||
| chrX:49987144
|
G | C | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-55172G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49987144 | ||||||
| chrX:49987145
|
A | G | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-55171A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49987145 | ||||||
| chrX:49987147
|
A | G | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-55169A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49987147 | ||||||
| chrX:49987149
|
A | G | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-55167A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49987149 | ||||||
| chrX:49987151
|
TCTTATTC others(6): Show |
T | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-55164_17-55152d others(15): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49987151 | ||||||
| chrX:49987194
|
A | T | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-55122A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49987194 | ||||||
| chrX:49987195
|
T | A | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-55121T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49987195 | ||||||
| chrX:49987308
|
CA | C | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-55005delA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49987308 | |||||
| chrX:49987323
|
TC | T | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-54987delC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49987323 | |||||
| chrX:49987353
|
T | TG | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-54963_17-54962i others(3): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49987353 | ||||||
| chrX:49987371
|
A | T | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-54945A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49987371 | ||||||
| chrX:49987452
|
CT | C | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-54860delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49987452 | |||||
| chrX:49987462
|
AT | A | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-54852delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49987462 | |||||
| chrX:49987498
|
TA | T | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-54815delA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49987498 | |||||
| chrX:49987599
|
C | CT | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-54715dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49987599 | |||||
| chrX:49987633
|
TG | T | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-54681delG | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49987633 | |||||
| chrX:49987694
|
TG | T | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-54620delG | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49987694 | |||||
| chrX:49987708
|
A | AC | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-54607dupC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49987708 | |||||
| chrX:49987717
|
G | GGC | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-54599_17-54598i others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49987717 | ||||||
| chrX:49987718
|
C | G | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-54598C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49987718 | ||||||
| chrX:49987804
|
A | T | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-54512A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49987804 | ||||||
| chrX:49987850
|
C | CG | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-54464dupG | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49987850 | |||||
| chrX:49987886
|
TC | T | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-54427delC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49987886 | |||||
| chrX:49987935
|
GT | G | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-54377delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49987935 | |||||
| chrX:49987948
|
A | AT | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-54368_17-54367i others(3): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49987948 | ||||||
| chrX:49988012
|
G | A | 17 | a0001c0002t0002g0004a0001c0002t0002g0006a0001c0002t0002g0007others(14): Show | 17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.17-54304G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49988012 | ||||||
| chrX:49988034
|
A | G | 1 | a0001c0003t0003g0161 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.17-54282A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49988034 | ||||||
| chrX:49988074
|
T | TG | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-54241dupG | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49988074 | |||||
| chrX:49988127
|
A | G | 6 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0001t0001g0125others(3): Show | 6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.17-54189A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49988127 | ||||||
| chrX:49988167
|
TC | T | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-54147delC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49988167 | |||||
| chrX:49988173
|
T | A | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-54143T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49988173 | ||||||
| chrX:49988191
|
A | AG | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-54124dupG | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49988191 | |||||
| chrX:49988306
|
T | A | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-54010T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49988306 | ||||||
| chrX:49988348
|
G | T | 1 | a0001c0001t0001g0065 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.17-53968G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49988348 | ||||||
| chrX:49988352
|
GA | G | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-53961delA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49988352 | |||||
| chrX:49988371
|
G | GC | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-53942dupC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49988371 | |||||
| chrX:49988382
|
T | A | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-53934T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49988382 | ||||||
| chrX:49988383
|
A | T | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-53933A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49988383 | ||||||
| chrX:49988415
|
GA | G | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-53899delA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49988415 | |||||
| chrX:49988476
|
T | TA | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-53840_17-53839i others(3): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49988476 | ||||||
| chrX:49988478
|
T | C | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-53838T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49988478 | ||||||
| chrX:49988502
|
A | T | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-53814A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49988502 | ||||||
| chrX:49988524
|
TC | T | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-53787delC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49988524 | |||||
| chrX:49988549
|
A | AAG | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-53767_17-53766i others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49988549 | ||||||
| chrX:49988550
|
G | T | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-53766G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49988550 | ||||||
| chrX:49988567
|
A | AC | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-53747dupC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49988567 | |||||
| chrX:49988576
|
CT | C | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-53737delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49988576 | |||||
| chrX:49988615
|
A | AT | 1 | a0001c0001t0001g0026 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.17-53693dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49988615 | |||||
| chrX:49988656
|
C | CA | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-53657dupA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49988656 | |||||
| chrX:49988672
|
TC | T | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-53643delC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49988672 | ||||||
| chrX:49988684
|
GA | G | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-53628delA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49988684 | |||||
| chrX:49988718
|
T | A | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-53598T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49988718 | ||||||
| chrX:49988733
|
TGA | T | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-53582_17-53581d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49988733 | ||||||
| chrX:49988757
|
T | TG | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-53559_17-53558i others(3): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49988757 | ||||||
| chrX:49988758
|
T | G | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-53558T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49988758 | ||||||
| chrX:49988799
|
T | TC | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-53516dupC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49988799 | |||||
| chrX:49988895
|
GC | G | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-53419delC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49988895 | |||||
| chrX:49988917
|
TC | T | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-53396delC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49988917 | |||||
| chrX:49989016
|
A | AT | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-53300_17-53299i others(3): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989016 | ||||||
| chrX:49989072
|
C | T | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-53244C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989072 | ||||||
| chrX:49989073
|
T | C | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-53243T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989073 | ||||||
| chrX:49989074
|
C | T | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-53242C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989074 | ||||||
| chrX:49989074
|
CT | C | 42 | a0001c0001t0001g0027a0001c0001t0001g0123a0001c0001t0001g0124others(39): Show | 42 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(39): Show |
intron_variant | MODIFIER | c.17-53227delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49989074 | |||||
| chrX:49989074
|
CTT | C | 4 | a0001c0001t0001g0050a0001c0003t0003g0164a0001c0003t0003g0165others(1): Show | 4 | HG01884.hp1 HG02486.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.17-53228_17-53227d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49989074 | |||||
| chrX:49989104
|
T | TC | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-53211dupC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49989104 | |||||
| chrX:49989149
|
T | C | 1 | a0001c0003t0003g0175 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.17-53167T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989149 | ||||||
| chrX:49989170
|
T | A | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-53146T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989170 | ||||||
| chrX:49989178
|
T | TA | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-53138_17-53137i others(3): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989178 | ||||||
| chrX:49989209
|
AC | A | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-53105delC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49989209 | |||||
| chrX:49989233
|
TG | T | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-53081delG | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49989233 | |||||
| chrX:49989259
|
GT | G | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-53056delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989259 | ||||||
| chrX:49989287
|
A | AGC | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-53028_17-53027i others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49989287 | |||||
| chrX:49989289
|
G | A | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-53027G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989289 | ||||||
| chrX:49989317
|
T | A | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52999T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989317 | ||||||
| chrX:49989340
|
C | CCT | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52976_17-52975i others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989340 | ||||||
| chrX:49989341
|
T | C | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52975T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989341 | ||||||
| chrX:49989346
|
G | GGC | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52970_17-52969i others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989346 | ||||||
| chrX:49989348
|
C | A | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52968C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989348 | ||||||
| chrX:49989364
|
A | T | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52952A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989364 | ||||||
| chrX:49989370
|
T | A | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52946T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989370 | ||||||
| chrX:49989379
|
T | TC | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52937_17-52936i others(3): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989379 | ||||||
| chrX:49989419
|
A | AC | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52897_17-52896i others(3): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989419 | ||||||
| chrX:49989422
|
A | AC | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52892dupC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49989422 | |||||
| chrX:49989432
|
T | TTC | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52883_17-52882i others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49989432 | |||||
| chrX:49989440
|
C | CG | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52876_17-52875i others(3): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989440 | ||||||
| chrX:49989446
|
A | ATT | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52870_17-52869i others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989446 | ||||||
| chrX:49989459
|
A | ATAG | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52856_17-52855i others(5): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49989459 | |||||
| chrX:49989471
|
A | AAGG | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52845_17-52844i others(5): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989471 | ||||||
| chrX:49989471
|
ATCT | A | 3 | a0001c0003t0003g0164a0001c0003t0003g0165a0001c0003t0003g0166 | 3 | HG01884.hp1 HG02486.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.17-52841_17-52839d others(5): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49989471 | |||||
| chrX:49989475
|
T | TC | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52840dupC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49989475 | |||||
| chrX:49989478
|
A | AG | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52838_17-52837i others(3): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989478 | ||||||
| chrX:49989486
|
A | AC | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52830_17-52829i others(3): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989486 | ||||||
| chrX:49989524
|
T | G | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52792T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989524 | ||||||
| chrX:49989533
|
GT | G | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52782delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989533 | ||||||
| chrX:49989544
|
AT | A | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52770delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49989544 | |||||
| chrX:49989552
|
AT | A | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52761delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49989552 | |||||
| chrX:49989559
|
TA | T | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52752delA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49989559 | |||||
| chrX:49989571
|
T | TA | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52743dupA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49989571 | |||||
| chrX:49989576
|
T | A | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52740T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989576 | ||||||
| chrX:49989582
|
GT | G | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52732delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49989582 | |||||
| chrX:49989604
|
A | AT | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52712_17-52711i others(3): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989604 | ||||||
| chrX:49989607
|
A | AC | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52707dupC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49989607 | |||||
| chrX:49989613
|
T | TG | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52703_17-52702i others(3): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989613 | ||||||
| chrX:49989614
|
T | A | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52702T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989614 | ||||||
| chrX:49989633
|
C | CAT | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52681_17-52680d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49989633 | |||||
| chrX:49989645
|
G | GC | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52670dupC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49989645 | |||||
| chrX:49989659
|
C | CT | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52656dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49989659 | |||||
| chrX:49989664
|
T | G | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52652T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989664 | ||||||
| chrX:49989683
|
T | TAG | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52632_17-52631d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49989683 | |||||
| chrX:49989689
|
CT | C | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52624delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49989689 | |||||
| chrX:49989700
|
AT | A | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52611delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49989700 | |||||
| chrX:49989722
|
GT | G | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52592delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49989722 | |||||
| chrX:49989738
|
ATT | A | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52575_17-52574d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49989738 | |||||
| chrX:49989747
|
T | C | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52569T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989747 | ||||||
| chrX:49989751
|
AT | A | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52564delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989751 | ||||||
| chrX:49989759
|
T | C | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52557T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989759 | ||||||
| chrX:49989764
|
T | TG | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52551dupG | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49989764 | |||||
| chrX:49989772
|
A | T | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52544A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989772 | ||||||
| chrX:49989773
|
T | G | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52543T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989773 | ||||||
| chrX:49989774
|
G | C | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52542G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989774 | ||||||
| chrX:49989781
|
T | C | 2 | a0001c0001t0005g0170a0001c0001t0005g0173 | 2 | HG01081.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.17-52535T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989781 | ||||||
| chrX:49989781
|
T | TGA | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52535_17-52534i others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989781 | ||||||
| chrX:49989783
|
T | A | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52533T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989783 | ||||||
| chrX:49989784
|
A | T | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52532A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989784 | ||||||
| chrX:49989788
|
A | C | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52528A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989788 | ||||||
| chrX:49989797
|
T | G | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52519T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989797 | ||||||
| chrX:49989830
|
A | AAC | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52486_17-52485i others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989830 | ||||||
| chrX:49989831
|
C | A | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52485C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989831 | ||||||
| chrX:49989851
|
T | G | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52465T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989851 | ||||||
| chrX:49989871
|
A | G | 1 | a0001c0002t0002g0011 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.17-52445A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989871 | ||||||
| chrX:49989873
|
CT | C | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52440delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49989873 | |||||
| chrX:49989898
|
A | C | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52418A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989898 | ||||||
| chrX:49989902
|
T | A | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52414T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989902 | ||||||
| chrX:49989912
|
G | GC | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52403dupC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49989912 | |||||
| chrX:49989917
|
A | AT | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52397dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49989917 | |||||
| chrX:49989938
|
TG | T | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52376delG | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49989938 | |||||
| chrX:49989941
|
T | A | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52375T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989941 | ||||||
| chrX:49989952
|
C | T | 2 | a0001c0003t0003g0164a0001c0003t0003g0166 | 2 | HG01884.hp1 HG02486.hp1 |
intron_variant | MODIFIER | c.17-52364C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989952 | ||||||
| chrX:49990023
|
A | G | 1 | a0001c0001t0001g0081 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.17-52293A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49990023 | ||||||
| chrX:49990064
|
T | C | 1 | a0001c0001t0001g0145 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.17-52252T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49990064 | ||||||
| chrX:49990089
|
A | T | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52227A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49990089 | ||||||
| chrX:49990165
|
G | A | 11 | a0001c0001t0001g0123a0001c0001t0001g0167a0001c0001t0004g0163others(8): Show | 11 | HG00738.hp1 HG01255.hp1 HG02280.hp1 others(8): Show |
intron_variant | MODIFIER | c.17-52151G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49990165 | ||||||
| chrX:49990340
|
A | T | 9 | a0001c0001t0001g0123a0001c0001t0001g0167a0001c0001t0004g0169others(6): Show | 9 | HG00738.hp1 HG02280.hp1 HG02723.hp1 others(6): Show |
intron_variant | MODIFIER | c.17-51976A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49990340 | ||||||
| chrX:49990832
|
A | ATT | 2 | a0001c0001t0004g0163a0002c0005t0020g0001 | 2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.17-51484_17-51483i others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49990832 | ||||||
| chrX:49990835
|
T | A | 2 | a0001c0001t0004g0163a0002c0005t0020g0001 | 2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.17-51481T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49990835 | ||||||
| chrX:49990836
|
A | AG | 2 | a0001c0001t0004g0163a0002c0005t0020g0001 | 2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.17-51479dupG | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49990836 | |||||
| chrX:49990961
|
A | C | 1 | a0001c0001t0001g0097 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.17-51355A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49990961 | ||||||
| chrX:49990993
|
A | G | 2 | a0001c0003t0003g0164a0001c0003t0003g0166 | 2 | HG01884.hp1 HG02486.hp1 |
intron_variant | MODIFIER | c.17-51323A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49990993 | ||||||
| chrX:49990994
|
T | C | 4 | a0001c0001t0001g0042a0001c0001t0001g0109a0001c0001t0001g0110others(1): Show | 4 | HG00621.hp1 NA18944.hp1 NA18984.hp1 others(1): Show |
intron_variant | MODIFIER | c.17-51322T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49990994 | ||||||
| chrX:49991028
|
G | A | 9 | a0001c0001t0001g0123a0001c0001t0001g0167a0001c0001t0004g0169others(6): Show | 9 | HG00738.hp1 HG02280.hp1 HG02723.hp1 others(6): Show |
intron_variant | MODIFIER | c.17-51288G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49991028 | ||||||
| chrX:49991112
|
A | G | 1 | a0001c0001t0004g0163 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.17-51204A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49991112 | ||||||
| chrX:49991230
|
A | AT | 1 | a0001c0001t0004g0163 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.17-51080dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49991230 | |||||
| chrX:49991653
|
C | A | 2 | a0001c0001t0001g0167a0001c0003t0003g0168 | 2 | HG02280.hp1 HG02723.hp1 |
intron_variant | MODIFIER | c.17-50663C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49991653 | ||||||
| chrX:49991759
|
C | T | 1 | a0001c0001t0001g0033 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.17-50557C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49991759 | ||||||
| chrX:49992208
|
C | CT | 4 | a0001c0001t0001g0087a0001c0002t0002g0013a0001c0002t0002g0014others(1): Show | 4 | HG01167.hp1 HG02970.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.17-50092dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49992208 | |||||
| chrX:49992208
|
CT | C | 1 | a0001c0001t0001g0041 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.17-50092delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49992208 | |||||
| chrX:49992238
|
C | G | 2 | a0001c0001t0010g0158a0001c0001t0010g0159 | 2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.17-50078C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49992238 | ||||||
| chrX:49992934
|
G | A | 1 | a0001c0001t0001g0106 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.17-49382G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49992934 | ||||||
| chrX:49994161
|
T | A | 45 | a0001c0001t0001g0027a0001c0001t0001g0123a0001c0001t0001g0124others(42): Show | 45 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(42): Show |
intron_variant | MODIFIER | c.17-48155T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49994161 | ||||||
| chrX:49994282
|
T | C | 17 | a0001c0002t0002g0004a0001c0002t0002g0006a0001c0002t0002g0007others(14): Show | 17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.17-48034T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49994282 | ||||||
| chrX:49994371
|
A | G | 3 | a0001c0002t0004g0002a0001c0002t0004g0003a0001c0002t0004g0016 | 3 | HG02622.hp2 HG02965.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.17-47945A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49994371 | ||||||
| chrX:49994525
|
A | AGGAAGAG others(4): Show |
19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-47791_17-47790i others(13): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49994525 | ||||||
| chrX:49994526
|
T | A | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-47790T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49994526 | ||||||
| chrX:49994527
|
T | A | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-47789T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49994527 | ||||||
| chrX:49995007
|
C | T | 1 | a0002c0005t0020g0001 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.17-47309C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49995007 | ||||||
| chrX:49995134
|
A | T | 5 | a0001c0001t0001g0056a0001c0001t0001g0081a0001c0001t0001g0117others(2): Show | 5 | HG01099.hp1 HG01433.hp1 HG01952.hp1 others(2): Show |
intron_variant | MODIFIER | c.17-47182A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49995134 | ||||||
| chrX:49995172
|
A | G | 1 | a0001c0002t0002g0013 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.17-47144A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49995172 | ||||||
| chrX:49995728
|
A | G | 14 | a0001c0001t0001g0123a0001c0001t0001g0167a0001c0001t0004g0169others(11): Show | 14 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.17-46588A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49995728 | ||||||
| chrX:49996242
|
A | G | 1 | a0001c0001t0001g0150 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.17-46074A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49996242 | ||||||
| chrX:49996420
|
G | T | 2 | a0001c0001t0010g0158a0001c0001t0010g0159 | 2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.17-45896G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49996420 | ||||||
| chrX:49996531
|
C | T | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-45785C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49996531 | ||||||
| chrX:49996588
|
T | C | 17 | a0001c0002t0002g0004a0001c0002t0002g0006a0001c0002t0002g0007others(14): Show | 17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.17-45728T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49996588 | ||||||
| chrX:49996688
|
T | C | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-45628T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49996688 | ||||||
| chrX:49996846
|
C | T | 2 | a0001c0001t0001g0032a0001c0001t0001g0036 | 2 | HG03688.hp1 HG04199.hp1 |
intron_variant | MODIFIER | c.17-45470C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49996846 | ||||||
| chrX:49996848
|
C | T | 2 | a0001c0001t0001g0032a0001c0001t0001g0036 | 2 | HG03688.hp1 HG04199.hp1 |
intron_variant | MODIFIER | c.17-45468C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49996848 | ||||||
| chrX:49996913
|
T | C | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-45403T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49996913 | ||||||
| chrX:49997017
|
T | C | 97 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(94): Show | 97 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(94): Show |
intron_variant | MODIFIER | c.17-45299T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49997017 | ||||||
| chrX:49997270
|
T | G | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-45046T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49997270 | ||||||
| chrX:49997626
|
G | A | 14 | a0001c0001t0001g0123a0001c0001t0001g0167a0001c0001t0004g0163others(11): Show | 14 | HG00738.hp1 HG01255.hp1 HG01884.hp1 others(11): Show |
intron_variant | MODIFIER | c.17-44690G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49997626 | ||||||
| chrX:49997690
|
C | CT | 4 | a0001c0001t0001g0106a0001c0001t0001g0107a0001c0001t0001g0112others(1): Show | 4 | HG01255.hp1 NA19006.hp1 NA19075.hp1 others(1): Show |
intron_variant | MODIFIER | c.17-44614dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49997690 | |||||
| chrX:49997690
|
C | CTT | 1 | a0001c0001t0001g0136 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.17-44615_17-44614d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49997690 | |||||
| chrX:49998217
|
T | G | 1 | a0002c0005t0020g0001 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.17-44099T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49998217 | ||||||
| chrX:49998338
|
G | A | 2 | a0001c0003t0003g0161a0001c0003t0003g0162 | 2 | HG03195.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.17-43978G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49998338 | ||||||
| chrX:49998350
|
A | G | 1 | a0001c0001t0004g0163 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.17-43966A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49998350 | ||||||
| chrX:49998953
|
T | C | 1 | a0001c0003t0003g0175 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.17-43363T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49998953 | ||||||
| chrX:49998990
|
A | AC | 2 | a0001c0001t0001g0048a0001c0001t0001g0100 | 2 | NA19000.hp1 NA19076.hp1 |
intron_variant | MODIFIER | c.17-43319dupC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49998990 | |||||
| chrX:49999063
|
C | T | 3 | a0001c0003t0003g0164a0001c0003t0003g0165a0001c0003t0003g0166 | 3 | HG01884.hp1 HG02486.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.17-43253C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49999063 | ||||||
| chrX:49999106
|
C | T | 1 | a0001c0006t0002g0133 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.17-43210C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49999106 | ||||||
| chrX:49999111
|
T | TC | 1 | a0001c0001t0001g0107 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.17-43201dupC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49999111 | |||||
| chrX:49999342
|
C | T | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-42974C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49999342 | ||||||
| chrX:49999409
|
C | CT | 2 | a0001c0001t0001g0062a0001c0001t0001g0102 | 2 | HG00140.hp1 HG02074.hp1 |
intron_variant | MODIFIER | c.17-42890dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49999409 | |||||
| chrX:49999409
|
CT | C | 12 | a0001c0001t0001g0047a0001c0001t0001g0057a0001c0001t0001g0060others(9): Show | 12 | HG01081.hp2 HG01943.hp1 HG02723.hp2 others(9): Show |
intron_variant | MODIFIER | c.17-42890delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49999409 | |||||
| chrX:49999525
|
C | T | 2 | a0001c0001t0004g0163a0002c0005t0020g0001 | 2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.17-42791C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49999525 | ||||||
| chrX:49999577
|
G | T | 1 | a0001c0001t0001g0131 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.17-42739G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49999577 | ||||||
| chrX:49999860
|
C | T | 12 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0001t0001g0125others(9): Show | 12 | HG00741.hp2 HG01070.hp2 HG01081.hp2 others(9): Show |
intron_variant | MODIFIER | c.17-42456C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49999860 | ||||||
| chrX:49999897
|
G | A | 174 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(171): Show | 174 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(171): Show |
intron_variant | MODIFIER | c.17-42419G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49999897 | ||||||
| chrX:50000121
|
A | T | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-42195A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50000121 | ||||||
| chrX:50000140
|
G | A | 1 | a0001c0002t0002g0128 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.17-42176G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50000140 | ||||||
| chrX:50000203
|
A | G | 1 | a0001c0001t0001g0064 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.17-42113A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50000203 | ||||||
| chrX:50000388
|
G | T | 1 | a0001c0001t0001g0080 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.17-41928G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50000388 | ||||||
| chrX:50000419
|
C | T | 45 | a0001c0001t0001g0027a0001c0001t0001g0123a0001c0001t0001g0124others(42): Show | 45 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(42): Show |
intron_variant | MODIFIER | c.17-41897C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50000419 | ||||||
| chrX:50000525
|
G | A | 1 | a0001c0002t0002g0013 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.17-41791G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50000525 | ||||||
| chrX:50000629
|
G | C | 2 | a0001c0001t0010g0158a0001c0001t0010g0159 | 2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.17-41687G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50000629 | ||||||
| chrX:50000881
|
C | T | 3 | a0001c0003t0003g0164a0001c0003t0003g0165a0001c0003t0003g0166 | 3 | HG01884.hp1 HG02486.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.17-41435C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50000881 | ||||||
| chrX:50001323
|
TA | T | 1 | a0001c0001t0001g0033 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.17-40988delA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50001323 | |||||
| chrX:50001399
|
G | GA | 1 | a0001c0001t0001g0080 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.17-40905dupA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50001399 | |||||
| chrX:50001399
|
GA | G | 1 | a0001c0001t0001g0138 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.17-40905delA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50001399 | |||||
| chrX:50001411
|
A | T | 22 | a0001c0001t0001g0044a0001c0001t0004g0163a0001c0001t0010g0158others(19): Show | 22 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(19): Show |
intron_variant | MODIFIER | c.17-40905A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50001411 | ||||||
| chrX:50001467
|
C | CT | 17 | a0001c0002t0002g0004a0001c0002t0002g0006a0001c0002t0002g0007others(14): Show | 17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.17-40841dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50001467 | |||||
| chrX:50001609
|
T | TC | 1 | a0001c0001t0007g0093 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.17-40701dupC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50001609 | |||||
| chrX:50001616
|
T | TC | 2 | a0001c0001t0001g0022a0001c0001t0001g0080 | 2 | HG03942.hp1 NA19086.hp1 |
intron_variant | MODIFIER | c.17-40694dupC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50001616 | |||||
| chrX:50001616
|
TC | T | 12 | a0001c0001t0001g0123a0001c0001t0001g0167a0001c0001t0004g0169others(9): Show | 12 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.17-40694delC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50001616 | |||||
| chrX:50001622
|
C | CT | 1 | a0001c0001t0001g0127 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.17-40694_17-40693i others(3): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50001622 | ||||||
| chrX:50001623
|
A | C | 1 | a0001c0001t0001g0127 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.17-40693A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50001623 | ||||||
| chrX:50001629
|
T | C | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-40687T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50001629 | ||||||
| chrX:50001641
|
A | G | 31 | a0001c0001t0001g0123a0001c0001t0001g0167a0001c0001t0004g0163others(28): Show | 31 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(28): Show |
intron_variant | MODIFIER | c.17-40675A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50001641 | ||||||
| chrX:50002101
|
C | CT | 6 | a0001c0001t0005g0170a0001c0001t0005g0171a0001c0001t0005g0172others(3): Show | 6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.17-40202dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50002101 | |||||
| chrX:50002101
|
CT | C | 22 | a0001c0001t0001g0033a0001c0001t0001g0060a0001c0001t0001g0136others(19): Show | 22 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(19): Show |
intron_variant | MODIFIER | c.17-40202delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50002101 | |||||
| chrX:50002264
|
C | T | 1 | a0001c0001t0001g0104 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.17-40052C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50002264 | ||||||
| chrX:50002344
|
A | G | 1 | a0001c0001t0001g0109 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.17-39972A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50002344 | ||||||
| chrX:50002422
|
A | G | 31 | a0001c0001t0001g0123a0001c0001t0001g0167a0001c0001t0004g0163others(28): Show | 31 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(28): Show |
intron_variant | MODIFIER | c.17-39894A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50002422 | ||||||
| chrX:50002494
|
T | G | 1 | a0001c0001t0001g0081 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.17-39822T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50002494 | ||||||
| chrX:50002630
|
T | A | 14 | a0001c0002t0002g0004a0001c0002t0002g0006a0001c0002t0002g0007others(11): Show | 14 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(11): Show |
intron_variant | MODIFIER | c.17-39686T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50002630 | ||||||
| chrX:50002639
|
CTCTCTG | C | 1 | a0001c0001t0001g0034 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.17-39653_17-39648d others(8): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50002639 | |||||
| chrX:50002659
|
CTCTG | C | 3 | a0001c0001t0001g0058a0001c0001t0004g0163a0001c0002t0009g0017 | 3 | HG01243.hp1 NA19030.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.17-39653_17-39650d others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50002659 | |||||
| chrX:50002661
|
CTG | C | 1 | a0002c0005t0020g0001 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.17-39653_17-39652d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50002661 | |||||
| chrX:50002663
|
G | C | 16 | a0001c0002t0002g0004a0001c0002t0002g0006a0001c0002t0002g0007others(13): Show | 16 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(13): Show |
intron_variant | MODIFIER | c.17-39653G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50002663 | ||||||
| chrX:50002663
|
G | GTC | 5 | a0001c0001t0001g0118a0001c0003t0003g0018a0001c0003t0003g0161others(2): Show | 5 | HG00738.hp1 HG02280.hp1 HG02922.hp2 others(2): Show |
intron_variant | MODIFIER | c.17-39635_17-39634d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50002663 | |||||
| chrX:50002663
|
GTC | G | 1 | a0001c0001t0001g0060 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.17-39635_17-39634d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50002663 | |||||
| chrX:50002667
|
C | CTG | 1 | a0001c0001t0001g0066 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.17-39648_17-39647i others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50002667 | |||||
| chrX:50002669
|
C | G | 19 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0022others(16): Show | 19 | HG01261.hp1 HG02040.hp1 HG02071.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-39647C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50002669 | ||||||
| chrX:50002677
|
CTCTCTGT others(3): Show |
C | 3 | a0001c0002t0004g0002a0001c0002t0004g0003a0001c0002t0004g0016 | 3 | HG02622.hp2 HG02965.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.17-39637_17-39628d others(12): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50002677 | |||||
| chrX:50002679
|
C | CTG | 6 | a0001c0001t0001g0027a0001c0001t0001g0087a0001c0001t0001g0124others(3): Show | 6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.17-39636_17-39635i others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50002679 | |||||
| chrX:50002679
|
C | CTGTG | 1 | a0001c0001t0001g0127 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.17-39636_17-39635i others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50002679 | |||||
| chrX:50002679
|
C | G | 1 | a0002c0005t0020g0001 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.17-39637C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50002679 | ||||||
| chrX:50002679
|
CTCTGTG | C | 12 | a0001c0002t0002g0004a0001c0002t0002g0006a0001c0002t0002g0007others(9): Show | 12 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(9): Show |
intron_variant | MODIFIER | c.17-39635_17-39630d others(8): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50002679 | |||||
| chrX:50002681
|
C | CTG | 25 | a0001c0001t0001g0026a0001c0001t0001g0041a0001c0001t0001g0050others(22): Show | 25 | HG01081.hp2 HG01099.hp1 HG01433.hp1 others(22): Show |
intron_variant | MODIFIER | c.17-39600_17-39599d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50002681 | |||||
| chrX:50002681
|
C | CTGTG | 4 | a0001c0001t0001g0086a0001c0001t0001g0090a0001c0001t0001g0119others(1): Show | 4 | HG01106.hp1 HG01884.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.17-39602_17-39599d others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50002681 | |||||
| chrX:50002681
|
C | CTGTGTG | 5 | a0001c0001t0001g0123a0001c0001t0010g0158a0001c0001t0010g0159others(2): Show | 5 | HG02486.hp1 HG02622.hp1 HG02809.hp2 others(2): Show |
intron_variant | MODIFIER | c.17-39604_17-39599d others(8): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50002681 | |||||
| chrX:50002681
|
C | G | 10 | a0001c0001t0001g0027a0001c0001t0001g0058a0001c0001t0001g0066others(7): Show | 10 | HG00741.hp2 HG01070.hp2 HG01243.hp1 others(7): Show |
intron_variant | MODIFIER | c.17-39635C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50002681 | ||||||
| chrX:50002681
|
CTG | C | 21 | a0001c0001t0001g0019a0001c0001t0001g0033a0001c0001t0001g0038others(18): Show | 21 | HG01069.hp1 HG01070.hp1 HG02083.hp1 others(18): Show |
intron_variant | MODIFIER | c.17-39600_17-39599d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50002681 | |||||
| chrX:50002681
|
CTGTGTG | C | 2 | a0001c0001t0012g0142a0001c0002t0002g0013 | 2 | HG00280.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.17-39604_17-39599d others(8): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50002681 | |||||
| chrX:50002683
|
G | C | 13 | a0001c0001t0001g0023a0001c0001t0001g0024a0001c0001t0001g0025others(10): Show | 13 | HG00642.hp1 HG00673.hp1 HG01081.hp1 others(10): Show |
intron_variant | MODIFIER | c.17-39633G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50002683 | ||||||
| chrX:50002685
|
G | C | 1 | a0001c0001t0001g0167 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.17-39631G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50002685 | ||||||
| chrX:50002739
|
G | T | 12 | a0001c0001t0001g0123a0001c0001t0001g0167a0001c0001t0004g0169others(9): Show | 12 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.17-39577G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50002739 | ||||||
| chrX:50003409
|
T | C | 2 | a0001c0001t0004g0163a0002c0005t0020g0001 | 2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.17-38907T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50003409 | ||||||
| chrX:50003620
|
T | C | 28 | a0001c0001t0001g0027a0001c0001t0001g0123a0001c0001t0001g0124others(25): Show | 28 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(25): Show |
intron_variant | MODIFIER | c.17-38696T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50003620 | ||||||
| chrX:50003803
|
TAG | T | 28 | a0001c0001t0001g0027a0001c0001t0001g0123a0001c0001t0001g0124others(25): Show | 28 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(25): Show |
intron_variant | MODIFIER | c.17-38509_17-38508d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50003803 | |||||
| chrX:50004339
|
T | G | 45 | a0001c0001t0001g0027a0001c0001t0001g0123a0001c0001t0001g0124others(42): Show | 45 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(42): Show |
intron_variant | MODIFIER | c.17-37977T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50004339 | ||||||
| chrX:50004391
|
T | TG | 1 | a0001c0001t0001g0107 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.17-37920dupG | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50004391 | |||||
| chrX:50004405
|
G | A | 2 | a0001c0001t0004g0163a0002c0005t0020g0001 | 2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.17-37911G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50004405 | ||||||
| chrX:50004430
|
G | T | 2 | a0001c0001t0010g0158a0001c0001t0010g0159 | 2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.17-37886G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50004430 | ||||||
| chrX:50004535
|
AG | A | 1 | a0001c0001t0001g0048 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.17-37778delG | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50004535 | |||||
| chrX:50004575
|
G | T | 12 | a0001c0001t0001g0123a0001c0001t0001g0167a0001c0001t0004g0169others(9): Show | 12 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.17-37741G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50004575 | ||||||
| chrX:50004583
|
T | TA | 4 | a0001c0001t0001g0048a0001c0002t0002g0006a0001c0002t0002g0007others(1): Show | 4 | HG02145.hp1 HG02615.hp2 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.17-37723dupA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50004583 | |||||
| chrX:50005300
|
G | A | 1 | a0001c0001t0001g0101 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.17-37016G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50005300 | ||||||
| chrX:50005334
|
G | A | 12 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0001t0001g0125others(9): Show | 12 | HG00741.hp2 HG01070.hp2 HG01081.hp2 others(9): Show |
intron_variant | MODIFIER | c.17-36982G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50005334 | ||||||
| chrX:50005435
|
A | G | 1 | a0001c0001t0004g0169 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.17-36881A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50005435 | ||||||
| chrX:50005448
|
GA | G | 12 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0001t0001g0125others(9): Show | 12 | HG00741.hp2 HG01070.hp2 HG01081.hp2 others(9): Show |
intron_variant | MODIFIER | c.17-36863delA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50005448 | |||||
| chrX:50005583
|
A | AT | 1 | a0001c0001t0001g0111 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.17-36727dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50005583 | |||||
| chrX:50006040
|
A | G | 17 | a0001c0002t0002g0004a0001c0002t0002g0006a0001c0002t0002g0007others(14): Show | 17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.17-36276A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50006040 | ||||||
| chrX:50006050
|
C | T | 6 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0001t0001g0125others(3): Show | 6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.17-36266C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50006050 | ||||||
| chrX:50006582
|
G | A | 1 | a0001c0001t0001g0110 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.17-35734G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50006582 | ||||||
| chrX:50006629
|
G | A | 1 | a0001c0001t0001g0116 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.17-35687G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50006629 | ||||||
| chrX:50006772
|
C | T | 14 | a0001c0001t0001g0123a0001c0001t0001g0167a0001c0001t0004g0169others(11): Show | 14 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.17-35544C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50006772 | ||||||
| chrX:50007276
|
G | A | 1 | a0001c0001t0001g0151 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.17-35040G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50007276 | ||||||
| chrX:50007379
|
G | GTCTC | 1 | a0001c0001t0001g0105 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.17-34923_17-34920d others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50007379 | |||||
| chrX:50007379
|
G | GTCTCTC | 1 | a0001c0001t0001g0086 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.17-34925_17-34920d others(8): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50007379 | |||||
| chrX:50007395
|
CT | C | 3 | a0001c0001t0001g0019a0001c0001t0001g0150a0001c0001t0025g0092 | 3 | HG04228.hp1 NA18943.hp1 NA18989.hp1 |
intron_variant | MODIFIER | c.17-34918delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50007395 | |||||
| chrX:50007397
|
T | C | 2 | a0001c0001t0001g0086a0001c0001t0001g0105 | 2 | HG02300.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.17-34919T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50007397 | ||||||
| chrX:50007397
|
T | TC | 4 | a0001c0001t0001g0068a0001c0001t0001g0102a0001c0001t0001g0116others(1): Show | 4 | HG02071.hp1 HG02074.hp1 NA18995.hp1 others(1): Show |
intron_variant | MODIFIER | c.17-34919_17-34918i others(3): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50007397 | ||||||
| chrX:50007397
|
T | TCTC | 1 | a0001c0001t0001g0155 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.17-34919_17-34918i others(5): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50007397 | ||||||
| chrX:50007397
|
T | TCTCTCTC | 3 | a0001c0001t0001g0056a0001c0001t0008g0098a0001c0001t0015g0137 | 3 | HG01952.hp1 HG03710.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.17-34919_17-34918i others(9): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50007397 | ||||||
| chrX:50007397
|
T | TCTCTCTC others(2): Show |
1 | a0001c0001t0001g0110 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.17-34919_17-34918i others(11): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50007397 | ||||||
| chrX:50007397
|
T | TTC | 26 | a0001c0001t0001g0048a0001c0001t0001g0050a0001c0001t0001g0053others(23): Show | 26 | HG00280.hp1 HG00741.hp1 HG01070.hp2 others(23): Show |
intron_variant | MODIFIER | c.17-34879_17-34878d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50007397 | |||||
| chrX:50007397
|
T | TTCTC | 10 | a0001c0001t0001g0040a0001c0001t0001g0089a0001c0001t0001g0104others(7): Show | 10 | HG00673.hp1 HG00741.hp2 HG01261.hp1 others(7): Show |
intron_variant | MODIFIER | c.17-34881_17-34878d others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50007397 | |||||
| chrX:50007397
|
T | TTCTCTC | 8 | a0001c0001t0001g0081a0001c0001t0001g0096a0001c0001t0001g0111others(5): Show | 8 | HG01099.hp1 HG01358.hp1 HG03490.hp1 others(5): Show |
intron_variant | MODIFIER | c.17-34883_17-34878d others(8): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50007397 | |||||
| chrX:50007397
|
T | TTCTCTCT others(1): Show |
5 | a0001c0001t0001g0042a0001c0001t0001g0112a0001c0001t0001g0136others(2): Show | 5 | HG01433.hp1 HG02015.hp1 NA18984.hp1 others(2): Show |
intron_variant | MODIFIER | c.17-34885_17-34878d others(10): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50007397 | |||||
| chrX:50007397
|
T | TTCTCTCT others(3): Show |
4 | a0001c0001t0001g0038a0001c0001t0001g0106a0001c0001t0001g0107others(1): Show | 4 | NA18971.hp1 NA19006.hp1 NA19070.hp1 others(1): Show |
intron_variant | MODIFIER | c.17-34887_17-34878d others(12): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50007397 | |||||
| chrX:50007397
|
T | TTCTCTCT others(5): Show |
2 | a0001c0001t0001g0109a0001c0001t0001g0157 | 2 | HG00621.hp1 NA18940.hp1 |
intron_variant | MODIFIER | c.17-34889_17-34878d others(14): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50007397 | |||||
| chrX:50007397
|
T | TTCTCTCT others(7): Show |
1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.17-34891_17-34878d others(16): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50007397 | |||||
| chrX:50007397
|
TTC | T | 41 | a0001c0001t0001g0020a0001c0001t0001g0027a0001c0001t0001g0061others(38): Show | 41 | HG00140.hp1 HG00642.hp1 HG01074.hp1 others(38): Show |
intron_variant | MODIFIER | c.17-34879_17-34878d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50007397 | |||||
| chrX:50007397
|
TTCTC | T | 5 | a0001c0001t0001g0103a0001c0001t0001g0146a0001c0001t0001g0153others(2): Show | 5 | HG01192.hp1 HG01884.hp2 HG03017.hp1 others(2): Show |
intron_variant | MODIFIER | c.17-34881_17-34878d others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50007397 | |||||
| chrX:50007397
|
TTCTCTC | T | 16 | a0001c0001t0001g0023a0001c0001t0001g0024a0001c0001t0001g0025others(13): Show | 16 | HG01258.hp1 HG01928.hp1 HG01934.hp1 others(13): Show |
intron_variant | MODIFIER | c.17-34883_17-34878d others(8): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50007397 | |||||
| chrX:50007397
|
TTCTCTCT others(7): Show |
T | 1 | a0001c0001t0001g0031 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.17-34891_17-34878d others(16): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50007397 | |||||
| chrX:50007415
|
C | CTT | 1 | a0001c0003t0003g0161 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.17-34900_17-34899i others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50007415 | |||||
| chrX:50007417
|
C | T | 10 | a0001c0001t0001g0123a0001c0001t0001g0167a0001c0001t0004g0169others(7): Show | 10 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(7): Show |
intron_variant | MODIFIER | c.17-34899C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50007417 | ||||||
| chrX:50007423
|
C | T | 22 | a0001c0001t0004g0163a0001c0001t0010g0158a0001c0001t0010g0159others(19): Show | 22 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(19): Show |
intron_variant | MODIFIER | c.17-34893C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50007423 | ||||||
| chrX:50007431
|
C | G | 1 | a0001c0003t0003g0161 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.17-34885C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50007431 | ||||||
| chrX:50007433
|
C | G | 10 | a0001c0001t0001g0123a0001c0001t0001g0167a0001c0001t0004g0169others(7): Show | 10 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(7): Show |
intron_variant | MODIFIER | c.17-34883C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50007433 | ||||||
| chrX:50007434
|
T | A | 1 | a0001c0003t0003g0161 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.17-34882T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50007434 | ||||||
| chrX:50007435
|
CTCTG | C | 3 | a0001c0003t0003g0164a0001c0003t0003g0165a0001c0003t0003g0166 | 3 | HG01884.hp1 HG02486.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.17-34878_17-34875d others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50007435 | |||||
| chrX:50007436
|
T | A | 8 | a0001c0001t0001g0123a0001c0001t0001g0167a0001c0001t0004g0169others(5): Show | 8 | HG00738.hp1 HG02280.hp1 HG02723.hp1 others(5): Show |
intron_variant | MODIFIER | c.17-34880T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50007436 | ||||||
| chrX:50007437
|
CTG | C | 7 | a0001c0001t0001g0123a0001c0001t0001g0167a0001c0001t0004g0169others(4): Show | 7 | HG00738.hp1 HG02280.hp1 HG02723.hp1 others(4): Show |
intron_variant | MODIFIER | c.17-34877_17-34876d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50007437 | |||||
| chrX:50007438
|
T | A | 1 | a0001c0003t0003g0161 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.17-34878T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50007438 | ||||||
| chrX:50007439
|
G | C | 1 | a0001c0003t0003g0161 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.17-34877G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50007439 | ||||||
| chrX:50007440
|
T | A | 11 | a0001c0001t0001g0123a0001c0001t0001g0167a0001c0001t0004g0169others(8): Show | 11 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(8): Show |
intron_variant | MODIFIER | c.17-34876T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50007440 | ||||||
| chrX:50007440
|
T | TCA | 16 | a0001c0001t0001g0041a0001c0001t0001g0052a0001c0001t0001g0073others(13): Show | 16 | HG01081.hp1 HG01099.hp1 HG02015.hp1 others(13): Show |
intron_variant | MODIFIER | c.17-34843_17-34842d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50007440 | |||||
| chrX:50007440
|
T | TCACA | 2 | a0001c0001t0001g0048a0001c0001t0001g0076 | 2 | HG02572.hp1 NA19076.hp1 |
intron_variant | MODIFIER | c.17-34845_17-34842d others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50007440 | |||||
| chrX:50007440
|
T | TCACACAC others(9): Show |
2 | a0001c0001t0010g0158a0001c0001t0010g0159 | 2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.17-34857_17-34842d others(18): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50007440 | |||||
| chrX:50007440
|
TCA | T | 5 | a0001c0001t0001g0059a0001c0001t0005g0171a0001c0001t0005g0172others(2): Show | 5 | HG01070.hp1 HG02723.hp2 HG06807.hp2 others(2): Show |
intron_variant | MODIFIER | c.17-34843_17-34842d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50007440 | |||||
| chrX:50007440
|
TCACA | T | 2 | a0001c0001t0001g0075a0001c0001t0001g0085 | 2 | NA19056.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.17-34845_17-34842d others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50007440 | |||||
| chrX:50007469
|
CACACAG | C | 2 | a0001c0001t0004g0163a0002c0005t0020g0001 | 2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.17-34845_17-34840d others(8): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50007469 | |||||
| chrX:50007471
|
CACAG | C | 17 | a0001c0002t0002g0004a0001c0002t0002g0006a0001c0002t0002g0007others(14): Show | 17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.17-34843_17-34840d others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50007471 | |||||
| chrX:50007475
|
G | C | 2 | a0001c0001t0001g0148a0001c0001t0012g0142 | 2 | HG00280.hp1 NA18988.hp1 |
intron_variant | MODIFIER | c.17-34841G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50007475 | ||||||
| chrX:50007761
|
C | T | 2 | a0001c0001t0010g0158a0001c0001t0010g0159 | 2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.17-34555C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50007761 | ||||||
| chrX:50008088
|
C | A | 17 | a0001c0002t0002g0004a0001c0002t0002g0006a0001c0002t0002g0007others(14): Show | 17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.17-34228C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50008088 | ||||||
| chrX:50008161
|
C | T | 2 | a0001c0001t0010g0158a0001c0001t0010g0159 | 2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.17-34155C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50008161 | ||||||
| chrX:50008195
|
G | A | 2 | a0001c0001t0010g0158a0001c0001t0010g0159 | 2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.17-34121G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50008195 | ||||||
| chrX:50008248
|
CT | C | 1 | a0001c0001t0001g0112 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.17-34065delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50008248 | |||||
| chrX:50008340
|
T | C | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-33976T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50008340 | ||||||
| chrX:50008393
|
G | GA | 1 | a0001c0001t0001g0112 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.17-33922dupA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50008393 | |||||
| chrX:50008644
|
TG | T | 1 | a0001c0001t0001g0112 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.17-33670delG | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50008644 | |||||
| chrX:50008699
|
T | G | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-33617T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50008699 | ||||||
| chrX:50008959
|
C | T | 6 | a0001c0001t0005g0170a0001c0001t0005g0171a0001c0001t0005g0172others(3): Show | 6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.17-33357C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50008959 | ||||||
| chrX:50009278
|
A | G | 6 | a0001c0001t0005g0170a0001c0001t0005g0171a0001c0001t0005g0172others(3): Show | 6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.17-33038A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50009278 | ||||||
| chrX:50009576
|
AG | A | 1 | a0001c0001t0001g0112 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.17-32735delG | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50009576 | |||||
| chrX:50009612
|
C | T | 1 | a0001c0002t0002g0128 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.17-32704C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50009612 | ||||||
| chrX:50009773
|
A | G | 2 | a0001c0003t0003g0161a0001c0003t0003g0162 | 2 | HG03195.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.17-32543A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50009773 | ||||||
| chrX:50009781
|
G | A | 2 | a0001c0001t0004g0163a0002c0005t0020g0001 | 2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.17-32535G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50009781 | ||||||
| chrX:50009931
|
G | A | 3 | a0001c0003t0003g0164a0001c0003t0003g0165a0001c0003t0003g0166 | 3 | HG01884.hp1 HG02486.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.17-32385G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50009931 | ||||||
| chrX:50010743
|
A | G | 2 | a0001c0003t0003g0161a0001c0003t0003g0162 | 2 | HG03195.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.17-31573A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50010743 | ||||||
| chrX:50010915
|
AG | A | 1 | a0001c0001t0001g0136 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.17-31398delG | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50010915 | |||||
| chrX:50011244
|
T | TC | 1 | a0001c0001t0001g0112 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.17-31071dupC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50011244 | |||||
| chrX:50011250
|
TCC | T | 1 | a0001c0001t0001g0112 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.17-31065_17-31064d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50011250 | ||||||
| chrX:50011676
|
T | A | 6 | a0001c0001t0005g0170a0001c0001t0005g0171a0001c0001t0005g0172others(3): Show | 6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.17-30640T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50011676 | ||||||
| chrX:50011749
|
A | G | 7 | a0001c0001t0001g0118a0001c0001t0001g0119a0001c0001t0001g0121others(4): Show | 7 | HG00642.hp1 HG01081.hp1 HG01106.hp1 others(4): Show |
intron_variant | MODIFIER | c.17-30567A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50011749 | ||||||
| chrX:50011959
|
C | T | 2 | a0001c0001t0004g0163a0002c0005t0020g0001 | 2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.17-30357C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50011959 | ||||||
| chrX:50012015
|
G | A | 1 | a0001c0002t0002g0128 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.17-30301G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50012015 | ||||||
| chrX:50012188
|
ACCC | A | 1 | a0001c0001t0001g0151 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.17-30124_17-30122d others(5): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50012188 | |||||
| chrX:50012439
|
A | G | 1 | a0002c0005t0020g0001 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.17-29877A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50012439 | ||||||
| chrX:50012643
|
C | T | 2 | a0001c0001t0010g0158a0001c0001t0010g0159 | 2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.17-29673C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50012643 | ||||||
| chrX:50012940
|
A | G | 1 | a0001c0001t0001g0020 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.17-29376A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50012940 | ||||||
| chrX:50013104
|
C | T | 2 | a0001c0001t0010g0158a0001c0001t0010g0159 | 2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.17-29212C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50013104 | ||||||
| chrX:50013213
|
A | AC | 1 | a0001c0001t0001g0125 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.17-29097dupC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50013213 | |||||
| chrX:50013219
|
C | G | 1 | a0001c0001t0001g0072 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.17-29097C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50013219 | ||||||
| chrX:50013450
|
T | C | 1 | a0001c0001t0001g0099 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.17-28866T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50013450 | ||||||
| chrX:50013471
|
G | A | 1 | a0001c0001t0001g0073 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.17-28845G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50013471 | ||||||
| chrX:50013589
|
T | A | 2 | a0001c0001t0001g0125a0001c0001t0001g0126 | 2 | HG00741.hp2 HG01070.hp2 |
intron_variant | MODIFIER | c.17-28727T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50013589 | ||||||
| chrX:50013670
|
A | C | 17 | a0001c0002t0002g0004a0001c0002t0002g0006a0001c0002t0002g0007others(14): Show | 17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.17-28646A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50013670 | ||||||
| chrX:50014005
|
G | C | 1 | a0001c0001t0004g0163 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.17-28311G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50014005 | ||||||
| chrX:50014626
|
G | T | 1 | a0001c0001t0001g0149 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.17-27690G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50014626 | ||||||
| chrX:50015097
|
A | G | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-27219A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50015097 | ||||||
| chrX:50015444
|
G | C | 1 | a0001c0001t0004g0169 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.17-26872G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50015444 | ||||||
| chrX:50015499
|
G | A | 1 | a0001c0001t0004g0169 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.17-26817G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50015499 | ||||||
| chrX:50015649
|
C | T | 5 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0079others(2): Show | 5 | HG02572.hp1 HG02717.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.17-26667C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50015649 | ||||||
| chrX:50015693
|
C | T | 2 | a0001c0002t0002g0011a0001c0002t0002g0128 | 2 | HG02809.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.17-26623C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50015693 | ||||||
| chrX:50015741
|
A | G | 1 | a0001c0001t0016g0043 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.17-26575A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50015741 | ||||||
| chrX:50015751
|
C | A | 2 | a0001c0001t0004g0163a0002c0005t0020g0001 | 2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.17-26565C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50015751 | ||||||
| chrX:50016019
|
T | C | 2 | a0001c0001t0001g0042a0001c0001t0001g0111 | 2 | NA18984.hp1 NA19067.hp1 |
intron_variant | MODIFIER | c.17-26297T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50016019 | ||||||
| chrX:50016435
|
C | T | 1 | a0001c0001t0001g0036 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.17-25881C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50016435 | ||||||
| chrX:50016553
|
C | A | 1 | a0001c0001t0001g0153 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.17-25763C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50016553 | ||||||
| chrX:50016637
|
TG | T | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.17-25676delG | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50016637 | |||||
| chrX:50016733
|
T | TC | 1 | a0001c0001t0001g0101 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.17-25577dupC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50016733 | |||||
| chrX:50016778
|
T | A | 2 | a0001c0001t0004g0163a0002c0005t0020g0001 | 2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.17-25538T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50016778 | ||||||
| chrX:50017201
|
CA | C | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.17-25112delA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50017201 | |||||
| chrX:50017381
|
TC | T | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.17-24932delC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50017381 | |||||
| chrX:50017500
|
A | G | 13 | a0001c0001t0001g0123a0001c0001t0004g0169a0001c0001t0010g0158others(10): Show | 13 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.17-24816A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50017500 | ||||||
| chrX:50017501
|
AT | A | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.17-24809delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50017501 | |||||
| chrX:50017683
|
A | AT | 1 | a0001c0001t0001g0148 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.17-24622dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50017683 | |||||
| chrX:50017683
|
A | G | 14 | a0001c0001t0001g0023a0001c0001t0001g0024a0001c0001t0001g0025others(11): Show | 14 | HG01192.hp1 HG01258.hp1 HG01928.hp1 others(11): Show |
intron_variant | MODIFIER | c.17-24633A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50017683 | ||||||
| chrX:50017683
|
AT | A | 19 | a0001c0001t0001g0119a0001c0001t0001g0123a0001c0001t0001g0138others(16): Show | 19 | HG00642.hp1 HG00738.hp1 HG01081.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-24622delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50017683 | |||||
| chrX:50017722
|
C | T | 1 | a0001c0002t0024g0010 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.17-24594C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50017722 | ||||||
| chrX:50017888
|
GC | G | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.17-24426delC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50017888 | |||||
| chrX:50017931
|
C | T | 1 | a0001c0001t0027g0132 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.17-24385C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50017931 | ||||||
| chrX:50018060
|
TG | T | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.17-24253delG | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50018060 | |||||
| chrX:50018129
|
A | G | 2 | a0001c0001t0004g0163a0002c0005t0020g0001 | 2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.17-24187A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50018129 | ||||||
| chrX:50018256
|
CA | C | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.17-24057delA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50018256 | |||||
| chrX:50018333
|
C | T | 1 | a0001c0002t0002g0128 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.17-23983C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50018333 | ||||||
| chrX:50018404
|
GA | G | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.17-23904delA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50018404 | |||||
| chrX:50018419
|
AT | A | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.17-23894delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50018419 | |||||
| chrX:50018433
|
C | A | 93 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(90): Show | 93 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(90): Show |
intron_variant | MODIFIER | c.17-23883C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50018433 | ||||||
| chrX:50018623
|
TC | T | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.17-23689delC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50018623 | |||||
| chrX:50018654
|
T | TATTTTTT others(1684): Show |
1 | a0001c0001t0001g0151 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.17-23660_17-23659i others(1693): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50018654 | |||||
| chrX:50018685
|
GT | G | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.17-23630delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50018685 | ||||||
| chrX:50018698
|
T | C | 44 | a0001c0001t0001g0027a0001c0001t0001g0123a0001c0001t0001g0124others(41): Show | 44 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(41): Show |
intron_variant | MODIFIER | c.17-23618T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50018698 | ||||||
| chrX:50019456
|
C | CT | 2 | a0001c0001t0010g0158a0001c0001t0010g0159 | 2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.17-22849dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50019456 | |||||
| chrX:50019456
|
CT | C | 1 | a0001c0001t0008g0082 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.17-22849delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50019456 | |||||
| chrX:50019465
|
TTTC | T | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.17-22848_17-22846d others(5): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50019465 | |||||
| chrX:50019466
|
T | G | 1 | a0001c0001t0001g0116 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.17-22850T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50019466 | ||||||
| chrX:50019466
|
T | TTTC | 5 | a0001c0001t0001g0123a0001c0001t0004g0169a0001c0003t0003g0018others(2): Show | 5 | HG00738.hp1 HG02280.hp1 HG02809.hp2 others(2): Show |
intron_variant | MODIFIER | c.17-22849_17-22848i others(5): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50019466 | |||||
| chrX:50019467
|
T | TTC | 6 | a0001c0001t0027g0132a0001c0003t0003g0161a0001c0003t0003g0162others(3): Show | 6 | HG01884.hp1 HG02486.hp1 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.17-22849_17-22848i others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50019467 | ||||||
| chrX:50019468
|
C | CT | 1 | a0001c0001t0001g0167 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.17-22827dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50019468 | |||||
| chrX:50019468
|
C | T | 20 | a0001c0001t0001g0123a0001c0001t0004g0169a0001c0001t0027g0132others(17): Show | 20 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(17): Show |
intron_variant | MODIFIER | c.17-22848C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50019468 | ||||||
| chrX:50019468
|
CT | C | 28 | a0001c0001t0001g0027a0001c0001t0001g0031a0001c0001t0001g0032others(25): Show | 28 | HG00741.hp2 HG01070.hp2 HG01081.hp2 others(25): Show |
intron_variant | MODIFIER | c.17-22827delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50019468 | |||||
| chrX:50019468
|
CTT | C | 1 | a0001c0001t0001g0124 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.17-22828_17-22827d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50019468 | |||||
| chrX:50019469
|
T | C | 9 | a0001c0002t0002g0011a0001c0002t0002g0013a0001c0002t0002g0014others(6): Show | 9 | HG02622.hp2 HG02630.hp2 HG02809.hp1 others(6): Show |
intron_variant | MODIFIER | c.17-22847T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50019469 | ||||||
| chrX:50019470
|
T | C | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.17-22846T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50019470 | ||||||
| chrX:50019474
|
T | A | 6 | a0001c0001t0005g0170a0001c0001t0005g0171a0001c0001t0005g0172others(3): Show | 6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.17-22842T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50019474 | ||||||
| chrX:50019477
|
T | TTC | 2 | a0001c0001t0010g0158a0001c0001t0010g0159 | 2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.17-22838_17-22837i others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50019477 | |||||
| chrX:50019484
|
T | C | 1 | a0001c0001t0010g0159 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.17-22832T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50019484 | ||||||
| chrX:50019489
|
T | A | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-22827T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50019489 | ||||||
| chrX:50019621
|
T | TC | 1 | a0001c0001t0001g0026 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.17-22689dupC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50019621 | |||||
| chrX:50019626
|
C | A | 3 | a0001c0003t0003g0164a0001c0003t0003g0165a0001c0003t0003g0166 | 3 | HG01884.hp1 HG02486.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.17-22690C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50019626 | ||||||
| chrX:50019626
|
C | T | 1 | a0001c0001t0001g0019 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.17-22690C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50019626 | ||||||
| chrX:50019723
|
C | T | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-22593C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50019723 | ||||||
| chrX:50019775
|
A | G | 8 | a0001c0001t0001g0123a0001c0001t0004g0169a0001c0001t0027g0132others(5): Show | 8 | HG00738.hp1 HG02280.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.17-22541A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50019775 | ||||||
| chrX:50019782
|
C | T | 1 | a0001c0001t0005g0174 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.17-22534C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50019782 | ||||||
| chrX:50019788
|
C | T | 3 | a0001c0002t0004g0002a0001c0002t0004g0003a0001c0002t0004g0016 | 3 | HG02622.hp2 HG02965.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.17-22528C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50019788 | ||||||
| chrX:50019863
|
A | G | 1 | a0001c0001t0025g0092 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.17-22453A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50019863 | ||||||
| chrX:50019892
|
G | C | 1 | a0001c0001t0001g0047 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.17-22424G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50019892 | ||||||
| chrX:50019930
|
A | G | 2 | a0001c0001t0001g0027a0001c0001t0001g0124 | 2 | HG02451.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.17-22386A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50019930 | ||||||
| chrX:50020101
|
A | C | 3 | a0001c0003t0003g0164a0001c0003t0003g0165a0001c0003t0003g0166 | 3 | HG01884.hp1 HG02486.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.17-22215A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50020101 | ||||||
| chrX:50020121
|
G | A | 17 | a0001c0002t0002g0004a0001c0002t0002g0006a0001c0002t0002g0007others(14): Show | 17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.17-22195G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50020121 | ||||||
| chrX:50020157
|
A | C | 17 | a0001c0002t0002g0004a0001c0002t0002g0006a0001c0002t0002g0007others(14): Show | 17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.17-22159A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50020157 | ||||||
| chrX:50020244
|
C | T | 1 | a0002c0005t0020g0001 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.17-22072C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50020244 | ||||||
| chrX:50020248
|
A | G | 18 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(15): Show | 18 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(15): Show |
intron_variant | MODIFIER | c.17-22068A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50020248 | ||||||
| chrX:50020304
|
C | T | 6 | a0001c0001t0005g0170a0001c0001t0005g0171a0001c0001t0005g0172others(3): Show | 6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.17-22012C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50020304 | ||||||
| chrX:50020305
|
A | G | 45 | a0001c0001t0001g0027a0001c0001t0001g0030a0001c0001t0001g0123others(42): Show | 45 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(42): Show |
intron_variant | MODIFIER | c.17-22011A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50020305 | ||||||
| chrX:50020320
|
G | T | 2 | a0001c0001t0004g0163a0002c0005t0020g0001 | 2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.17-21996G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50020320 | ||||||
| chrX:50020443
|
A | T | 3 | a0001c0003t0003g0164a0001c0003t0003g0165a0001c0003t0003g0166 | 3 | HG01884.hp1 HG02486.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.17-21873A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50020443 | ||||||
| chrX:50020506
|
T | G | 2 | a0001c0001t0010g0158a0001c0001t0010g0159 | 2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.17-21810T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50020506 | ||||||
| chrX:50020551
|
C | T | 6 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0001t0001g0125others(3): Show | 6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.17-21765C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50020551 | ||||||
| chrX:50020555
|
C | T | 23 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0001t0001g0125others(20): Show | 23 | HG00741.hp2 HG01070.hp2 HG01167.hp1 others(20): Show |
intron_variant | MODIFIER | c.17-21761C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50020555 | ||||||
| chrX:50020666
|
G | A | 1 | a0001c0001t0001g0129 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.17-21650G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50020666 | ||||||
| chrX:50020676
|
C | G | 1 | a0001c0001t0015g0137 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.17-21640C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50020676 | ||||||
| chrX:50020960
|
A | G | 6 | a0001c0001t0001g0114a0001c0001t0001g0116a0001c0001t0016g0043others(3): Show | 6 | HG01884.hp2 HG02071.hp1 NA18943.hp1 others(3): Show |
intron_variant | MODIFIER | c.17-21356A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50020960 | ||||||
| chrX:50020965
|
CT | C | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.17-21345delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50020965 | |||||
| chrX:50020966
|
T | C | 2 | a0001c0001t0010g0158a0001c0001t0010g0159 | 2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.17-21350T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50020966 | ||||||
| chrX:50020988
|
T | G | 1 | a0001c0001t0001g0059 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.17-21328T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50020988 | ||||||
| chrX:50021138
|
A | G | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-21178A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50021138 | ||||||
| chrX:50021139
|
T | C | 1 | a0001c0001t0015g0137 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.17-21177T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50021139 | ||||||
| chrX:50021148
|
C | A | 44 | a0001c0001t0001g0027a0001c0001t0001g0123a0001c0001t0001g0124others(41): Show | 44 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(41): Show |
intron_variant | MODIFIER | c.17-21168C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50021148 | ||||||
| chrX:50021215
|
C | CTAGG | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-21099_17-21098i others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50021215 | |||||
| chrX:50021242
|
G | C | 1 | a0001c0009t0003g0005 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.17-21074G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50021242 | ||||||
| chrX:50021383
|
A | C | 97 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(94): Show | 97 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(94): Show |
intron_variant | MODIFIER | c.17-20933A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50021383 | ||||||
| chrX:50021384
|
A | G | 17 | a0001c0002t0002g0004a0001c0002t0002g0006a0001c0002t0002g0007others(14): Show | 17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.17-20932A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50021384 | ||||||
| chrX:50021488
|
C | G | 17 | a0001c0002t0002g0004a0001c0002t0002g0006a0001c0002t0002g0007others(14): Show | 17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.17-20828C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50021488 | ||||||
| chrX:50021640
|
A | C | 2 | a0001c0001t0004g0163a0002c0005t0020g0001 | 2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.17-20676A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50021640 | ||||||
| chrX:50021654
|
A | G | 1 | a0001c0001t0001g0077 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.17-20662A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50021654 | ||||||
| chrX:50021876
|
GC | G | 1 | a0001c0001t0001g0069 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.17-20438delC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50021876 | |||||
| chrX:50021959
|
C | T | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-20357C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50021959 | ||||||
| chrX:50022069
|
AC | A | 1 | a0001c0001t0001g0069 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.17-20245delC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50022069 | |||||
| chrX:50022077
|
T | G | 14 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0011others(11): Show | 14 | HG01167.hp1 HG01255.hp1 HG02622.hp2 others(11): Show |
intron_variant | MODIFIER | c.17-20239T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50022077 | ||||||
| chrX:50022094
|
TC | T | 1 | a0001c0001t0001g0069 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.17-20220delC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50022094 | |||||
| chrX:50022261
|
C | T | 2 | a0001c0001t0001g0138a0001c0001t0001g0139 | 2 | HG00642.hp1 HG01081.hp1 |
intron_variant | MODIFIER | c.17-20055C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50022261 | ||||||
| chrX:50022306
|
G | T | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-20010G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50022306 | ||||||
| chrX:50022313
|
G | A | 3 | a0001c0001t0001g0118a0001c0001t0001g0121a0001c0001t0018g0122 | 3 | HG01358.hp1 HG02698.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.17-20003G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50022313 | ||||||
| chrX:50022334
|
AT | A | 1 | a0001c0001t0001g0069 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.17-19976delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50022334 | |||||
| chrX:50022359
|
TTCTC | T | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-19953_17-19950d others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50022359 | |||||
| chrX:50022373
|
C | T | 1 | a0001c0001t0001g0111 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.17-19943C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50022373 | ||||||
| chrX:50022374
|
T | C | 1 | a0001c0001t0001g0111 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.17-19942T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50022374 | ||||||
| chrX:50022388
|
T | TAGCGGTC others(287): Show |
1 | a0001c0003t0003g0164 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.17-19911_17-19910i others(296): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50022388 | |||||
| chrX:50022388
|
T | TAGCGGTC others(288): Show |
1 | a0001c0003t0003g0166 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.17-19911_17-19910i others(297): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50022388 | |||||
| chrX:50022388
|
T | TAGCGGTC others(288): Show |
1 | a0001c0003t0003g0165 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.17-19911_17-19910i others(297): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50022388 | |||||
| chrX:50022388
|
T | TAGCGGTC others(290): Show |
7 | a0001c0001t0004g0169a0001c0001t0010g0158a0001c0001t0010g0159others(4): Show | 7 | HG02622.hp1 HG02922.hp2 HG03195.hp2 others(4): Show |
intron_variant | MODIFIER | c.17-19911_17-19910i others(299): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50022388 | |||||
| chrX:50022388
|
T | TAGCGGTC others(291): Show |
3 | a0001c0001t0001g0123a0001c0003t0003g0168a0001c0003t0003g0175 | 3 | HG00738.hp1 HG02280.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.17-19911_17-19910i others(300): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50022388 | |||||
| chrX:50022417
|
CA | C | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.17-19893delA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50022417 | |||||
| chrX:50022454
|
G | T | 8 | a0001c0001t0001g0123a0001c0001t0004g0169a0001c0001t0027g0132others(5): Show | 8 | HG00738.hp1 HG02280.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.17-19862G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50022454 | ||||||
| chrX:50022541
|
CT | C | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.17-19771delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50022541 | |||||
| chrX:50022651
|
C | T | 1 | a0001c0001t0001g0096 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.17-19665C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50022651 | ||||||
| chrX:50022653
|
TC | T | 1 | a0001c0001t0001g0069 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.17-19660delC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50022653 | |||||
| chrX:50022688
|
T | G | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-19628T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50022688 | ||||||
| chrX:50022861
|
T | C | 1 | a0001c0001t0001g0050 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.17-19455T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50022861 | ||||||
| chrX:50022899
|
G | A | 32 | a0001c0001t0001g0123a0001c0001t0004g0163a0001c0001t0004g0169others(29): Show | 32 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(29): Show |
intron_variant | MODIFIER | c.17-19417G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50022899 | ||||||
| chrX:50022904
|
G | A | 1 | a0001c0001t0001g0040 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.17-19412G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50022904 | ||||||
| chrX:50022918
|
AG | A | 1 | a0001c0001t0001g0069 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.17-19396delG | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50022918 | |||||
| chrX:50022931
|
T | G | 3 | a0001c0003t0003g0164a0001c0003t0003g0165a0001c0003t0003g0166 | 3 | HG01884.hp1 HG02486.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.17-19385T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50022931 | ||||||
| chrX:50022971
|
G | A | 1 | a0001c0001t0001g0073 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.17-19345G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50022971 | ||||||
| chrX:50022977
|
T | C | 6 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0001t0001g0125others(3): Show | 6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.17-19339T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50022977 | ||||||
| chrX:50022994
|
T | C | 2 | a0001c0001t0010g0158a0001c0001t0010g0159 | 2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.17-19322T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50022994 | ||||||
| chrX:50023039
|
T | G | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-19277T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50023039 | ||||||
| chrX:50023046
|
T | C | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-19270T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50023046 | ||||||
| chrX:50023080
|
TA | T | 1 | a0001c0001t0001g0069 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.17-19233delA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50023080 | |||||
| chrX:50023110
|
CT | C | 32 | a0001c0001t0001g0123a0001c0001t0004g0163a0001c0001t0004g0169others(29): Show | 32 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(29): Show |
intron_variant | MODIFIER | c.17-19204delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50023110 | |||||
| chrX:50023240
|
CT | C | 1 | a0001c0001t0001g0069 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.17-19073delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50023240 | |||||
| chrX:50023256
|
CT | C | 1 | a0001c0001t0001g0069 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.17-19057delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50023256 | |||||
| chrX:50023267
|
T | TA | 1 | a0001c0001t0001g0111 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.17-19046dupA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50023267 | |||||
| chrX:50023325
|
G | T | 9 | a0001c0001t0001g0050a0001c0001t0001g0054a0001c0001t0001g0058others(6): Show | 9 | HG01243.hp1 HG01884.hp1 HG02486.hp1 others(6): Show |
intron_variant | MODIFIER | c.17-18991G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50023325 | ||||||
| chrX:50023327
|
CT | C | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.17-18987delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50023327 | |||||
| chrX:50023412
|
TG | T | 1 | a0001c0001t0001g0111 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.17-18901delG | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50023412 | |||||
| chrX:50023424
|
CTT | C | 1 | a0001c0001t0001g0073 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.17-18890_17-18889d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50023424 | |||||
| chrX:50023459
|
C | G | 1 | a0001c0001t0001g0079 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.17-18857C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50023459 | ||||||
| chrX:50023531
|
T | C | 44 | a0001c0001t0001g0027a0001c0001t0001g0123a0001c0001t0001g0124others(41): Show | 44 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(41): Show |
intron_variant | MODIFIER | c.17-18785T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50023531 | ||||||
| chrX:50023536
|
T | G | 44 | a0001c0001t0001g0027a0001c0001t0001g0123a0001c0001t0001g0124others(41): Show | 44 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(41): Show |
intron_variant | MODIFIER | c.17-18780T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50023536 | ||||||
| chrX:50023559
|
G | C | 17 | a0001c0002t0002g0004a0001c0002t0002g0006a0001c0002t0002g0007others(14): Show | 17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.17-18757G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50023559 | ||||||
| chrX:50023608
|
G | A | 1 | a0001c0004t0001g0055 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.17-18708G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50023608 | ||||||
| chrX:50023702
|
TGTCTATA others(2): Show |
T | 1 | a0001c0001t0001g0111 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.17-18611_17-18603d others(11): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50023702 | |||||
| chrX:50023729
|
C | T | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-18587C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50023729 | ||||||
| chrX:50023838
|
C | G | 2 | a0001c0001t0010g0158a0001c0001t0010g0159 | 2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.17-18478C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50023838 | ||||||
| chrX:50023847
|
C | T | 1 | a0001c0001t0027g0132 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.17-18469C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50023847 | ||||||
| chrX:50023981
|
G | A | 13 | a0001c0001t0001g0123a0001c0001t0004g0169a0001c0001t0010g0158others(10): Show | 13 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.17-18335G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50023981 | ||||||
| chrX:50023992
|
G | A | 1 | a0001c0001t0001g0040 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.17-18324G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50023992 | ||||||
| chrX:50024236
|
C | G | 1 | a0001c0002t0024g0010 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.17-18080C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50024236 | ||||||
| chrX:50024278
|
C | T | 31 | a0001c0001t0001g0123a0001c0001t0004g0163a0001c0001t0004g0169others(28): Show | 31 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(28): Show |
intron_variant | MODIFIER | c.17-18038C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50024278 | ||||||
| chrX:50024392
|
T | C | 32 | a0001c0001t0001g0123a0001c0001t0004g0163a0001c0001t0004g0169others(29): Show | 32 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(29): Show |
intron_variant | MODIFIER | c.17-17924T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50024392 | ||||||
| chrX:50024422
|
G | GA | 1 | a0001c0001t0001g0111 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.17-17892dupA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50024422 | |||||
| chrX:50024510
|
C | T | 30 | a0001c0001t0001g0123a0001c0001t0004g0163a0001c0001t0004g0169others(27): Show | 30 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(27): Show |
intron_variant | MODIFIER | c.17-17806C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50024510 | ||||||
| chrX:50024511
|
A | G | 30 | a0001c0001t0001g0123a0001c0001t0004g0163a0001c0001t0004g0169others(27): Show | 30 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(27): Show |
intron_variant | MODIFIER | c.17-17805A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50024511 | ||||||
| chrX:50024552
|
G | A | 50 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(47): Show | 50 | HG00140.hp1 HG00609.hp1 HG00741.hp1 others(47): Show |
intron_variant | MODIFIER | c.17-17764G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50024552 | ||||||
| chrX:50024563
|
C | T | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-17753C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50024563 | ||||||
| chrX:50024605
|
T | TC | 1 | a0001c0001t0001g0111 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.17-17711_17-17710i others(3): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50024605 | ||||||
| chrX:50024641
|
G | T | 1 | a0001c0001t0001g0052 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.17-17675G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50024641 | ||||||
| chrX:50024656
|
C | T | 4 | a0001c0001t0001g0044a0001c0001t0004g0163a0001c0002t0009g0015others(1): Show | 4 | HG02451.hp1 HG02630.hp2 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.17-17660C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50024656 | ||||||
| chrX:50024662
|
A | G | 5 | a0001c0001t0001g0044a0001c0001t0004g0163a0001c0002t0009g0015others(2): Show | 5 | HG01255.hp1 HG02451.hp1 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.17-17654A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50024662 | ||||||
| chrX:50024676
|
G | T | 3 | a0001c0001t0001g0044a0001c0002t0009g0015a0001c0002t0009g0017 | 3 | HG02451.hp1 HG02630.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.17-17640G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50024676 | ||||||
| chrX:50024755
|
G | GC | 1 | a0001c0001t0001g0111 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.17-17557dupC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50024755 | |||||
| chrX:50024763
|
T | TG | 1 | a0001c0001t0001g0111 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.17-17547dupG | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50024763 | |||||
| chrX:50024784
|
G | GC | 1 | a0001c0001t0001g0111 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.17-17531dupC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50024784 | |||||
| chrX:50024785
|
C | G | 3 | a0001c0003t0003g0164a0001c0003t0003g0165a0001c0003t0003g0166 | 3 | HG01884.hp1 HG02486.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.17-17531C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50024785 | ||||||
| chrX:50024873
|
G | T | 170 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(167): Show | 170 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(167): Show |
intron_variant | MODIFIER | c.17-17443G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50024873 | ||||||
| chrX:50024882
|
A | G | 1 | a0001c0001t0001g0020 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.17-17434A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50024882 | ||||||
| chrX:50024896
|
G | A | 4 | a0001c0001t0001g0081a0001c0001t0001g0117a0001c0001t0008g0082others(1): Show | 4 | HG01099.hp1 HG01433.hp1 HG01952.hp1 others(1): Show |
intron_variant | MODIFIER | c.17-17420G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50024896 | ||||||
| chrX:50024938
|
C | G | 6 | a0001c0001t0005g0170a0001c0001t0005g0171a0001c0001t0005g0172others(3): Show | 6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.17-17378C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50024938 | ||||||
| chrX:50025013
|
C | T | 1 | a0001c0003t0003g0175 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.17-17303C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50025013 | ||||||
| chrX:50025022
|
T | C | 29 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0031others(26): Show | 29 | HG00280.hp1 HG01167.hp1 HG01192.hp1 others(26): Show |
intron_variant | MODIFIER | c.17-17294T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50025022 | ||||||
| chrX:50025023
|
G | A | 1 | a0001c0001t0012g0142 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.17-17293G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50025023 | ||||||
| chrX:50025023
|
G | C | 27 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0031others(24): Show | 27 | HG01167.hp1 HG01192.hp1 HG01258.hp1 others(24): Show |
intron_variant | MODIFIER | c.17-17293G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50025023 | ||||||
| chrX:50025059
|
C | CG | 1 | a0001c0001t0001g0111 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.17-17254dupG | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50025059 | |||||
| chrX:50025082
|
T | C | 3 | a0001c0001t0001g0083a0001c0001t0012g0142a0001c0001t0027g0132 | 3 | HG00280.hp1 HG02602.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.17-17234T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50025082 | ||||||
| chrX:50025127
|
C | T | 3 | a0001c0002t0004g0002a0001c0002t0004g0003a0001c0002t0004g0016 | 3 | HG02622.hp2 HG02965.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.17-17189C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50025127 | ||||||
| chrX:50025136
|
G | A | 1 | a0001c0003t0003g0162 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.17-17180G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50025136 | ||||||
| chrX:50025142
|
G | A | 1 | a0001c0002t0002g0011 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.17-17174G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50025142 | ||||||
| chrX:50025153
|
T | C | 1 | a0001c0003t0003g0162 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.17-17163T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50025153 | ||||||
| chrX:50025154
|
G | A | 1 | a0001c0003t0003g0162 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.17-17162G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50025154 | ||||||
| chrX:50025161
|
G | GT | 1 | a0001c0001t0001g0111 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.17-17154dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50025161 | |||||
| chrX:50025200
|
G | A | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-17116G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50025200 | ||||||
| chrX:50025205
|
GA | G | 1 | a0001c0001t0001g0111 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.17-17107delA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50025205 | |||||
| chrX:50025319
|
G | GC | 1 | a0001c0001t0001g0111 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.17-16995dupC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50025319 | |||||
| chrX:50025344
|
C | T | 1 | a0001c0001t0001g0127 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.17-16972C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50025344 | ||||||
| chrX:50025445
|
C | G | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-16871C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50025445 | ||||||
| chrX:50025648
|
TCTTA | T | 6 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0001t0001g0125others(3): Show | 6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.17-16661_17-16658d others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50025648 | |||||
| chrX:50025711
|
C | T | 1 | a0001c0001t0001g0052 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.17-16605C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50025711 | ||||||
| chrX:50025721
|
G | GA | 2 | a0001c0001t0001g0147a0001c0001t0001g0150 | 2 | HG03492.hp1 HG04228.hp1 |
intron_variant | MODIFIER | c.17-16595_17-16594i others(3): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50025721 | ||||||
| chrX:50025955
|
C | T | 1 | a0001c0001t0015g0137 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.17-16361C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50025955 | ||||||
| chrX:50026034
|
C | G | 1 | a0001c0001t0001g0080 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.17-16282C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50026034 | ||||||
| chrX:50026161
|
A | G | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-16155A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50026161 | ||||||
| chrX:50026196
|
A | C | 172 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(169): Show | 172 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(169): Show |
intron_variant | MODIFIER | c.17-16120A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50026196 | ||||||
| chrX:50026284
|
T | C | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-16032T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50026284 | ||||||
| chrX:50026385
|
G | A | 6 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0001t0001g0125others(3): Show | 6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.17-15931G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50026385 | ||||||
| chrX:50026414
|
G | A | 32 | a0001c0001t0001g0123a0001c0001t0004g0163a0001c0001t0004g0169others(29): Show | 32 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(29): Show |
intron_variant | MODIFIER | c.17-15902G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50026414 | ||||||
| chrX:50026489
|
G | C | 1 | a0001c0001t0001g0024 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.17-15827G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50026489 | ||||||
| chrX:50026945
|
T | C | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-15371T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50026945 | ||||||
| chrX:50027017
|
C | CT | 9 | a0001c0001t0001g0052a0001c0001t0001g0061a0001c0001t0001g0062others(6): Show | 9 | HG00140.hp1 HG01255.hp1 HG01261.hp1 others(6): Show |
intron_variant | MODIFIER | c.17-15284dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50027017 | |||||
| chrX:50027017
|
C | CTT | 1 | a0001c0001t0004g0163 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.17-15285_17-15284d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50027017 | |||||
| chrX:50027017
|
CT | C | 5 | a0001c0001t0001g0040a0001c0001t0001g0054a0001c0001t0001g0059others(2): Show | 5 | HG01070.hp1 HG04204.hp1 HG06807.hp1 others(2): Show |
intron_variant | MODIFIER | c.17-15284delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50027017 | |||||
| chrX:50027019
|
T | TTC | 2 | a0001c0003t0003g0161a0001c0003t0003g0162 | 2 | HG03195.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.17-15296_17-15295i others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50027019 | |||||
| chrX:50027020
|
T | TC | 10 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0079others(7): Show | 10 | HG00738.hp1 HG02280.hp1 HG02572.hp1 others(7): Show |
intron_variant | MODIFIER | c.17-15296_17-15295i others(3): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50027020 | ||||||
| chrX:50027020
|
T | TCTTTC | 1 | a0001c0001t0004g0169 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.17-15296_17-15295i others(7): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50027020 | ||||||
| chrX:50027043
|
C | G | 6 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0001t0001g0125others(3): Show | 6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.17-15273C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50027043 | ||||||
| chrX:50027048
|
CCTGTTGC others(19): Show |
C | 8 | a0001c0001t0001g0123a0001c0001t0004g0169a0001c0001t0027g0132others(5): Show | 8 | HG00738.hp1 HG02280.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.17-15265_17-15240d others(28): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50027048 | |||||
| chrX:50027207
|
G | GAT | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.17-15108_17-15107d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50027207 | |||||
| chrX:50027250
|
G | A | 21 | a0001c0001t0004g0163a0001c0001t0010g0158a0001c0001t0010g0159others(18): Show | 21 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(18): Show |
intron_variant | MODIFIER | c.17-15066G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50027250 | ||||||
| chrX:50027489
|
A | G | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-14827A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50027489 | ||||||
| chrX:50027600
|
T | G | 13 | a0001c0001t0001g0123a0001c0001t0004g0169a0001c0001t0010g0158others(10): Show | 13 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.17-14716T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50027600 | ||||||
| chrX:50027656
|
G | A | 44 | a0001c0001t0001g0027a0001c0001t0001g0123a0001c0001t0001g0124others(41): Show | 44 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(41): Show |
intron_variant | MODIFIER | c.17-14660G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50027656 | ||||||
| chrX:50027724
|
G | GT | 41 | a0001c0001t0001g0019a0001c0001t0001g0025a0001c0001t0001g0027others(38): Show | 41 | HG00738.hp1 HG00741.hp1 HG00741.hp2 others(38): Show |
intron_variant | MODIFIER | c.17-14577dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50027724 | |||||
| chrX:50027724
|
G | GTT | 7 | a0001c0001t0010g0158a0001c0001t0010g0159a0001c0002t0009g0015others(4): Show | 7 | HG01884.hp1 HG02486.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.17-14578_17-14577d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50027724 | |||||
| chrX:50028090
|
T | A | 1 | a0001c0002t0009g0015 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.17-14226T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50028090 | ||||||
| chrX:50028372
|
T | C | 2 | a0001c0001t0010g0158a0001c0001t0010g0159 | 2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.17-13944T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50028372 | ||||||
| chrX:50028523
|
C | A | 3 | a0001c0003t0003g0164a0001c0003t0003g0165a0001c0003t0003g0166 | 3 | HG01884.hp1 HG02486.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.17-13793C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50028523 | ||||||
| chrX:50029253
|
T | G | 1 | a0001c0001t0001g0080 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.17-13063T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50029253 | ||||||
| chrX:50029301
|
C | G | 1 | a0001c0001t0001g0103 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.17-13015C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50029301 | ||||||
| chrX:50029337
|
G | A | 2 | a0001c0001t0004g0163a0002c0005t0020g0001 | 2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.17-12979G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50029337 | ||||||
| chrX:50029387
|
G | A | 6 | a0001c0001t0001g0050a0001c0001t0001g0054a0001c0001t0001g0058others(3): Show | 6 | HG01243.hp1 HG02647.hp1 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.17-12929G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50029387 | ||||||
| chrX:50029848
|
A | C | 6 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0001t0001g0125others(3): Show | 6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.17-12468A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50029848 | ||||||
| chrX:50030245
|
C | T | 1 | a0001c0001t0001g0103 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.17-12071C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50030245 | ||||||
| chrX:50030407
|
C | A | 1 | a0001c0001t0001g0116 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.17-11909C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50030407 | ||||||
| chrX:50030413
|
T | A | 1 | a0001c0003t0003g0175 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.17-11903T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50030413 | ||||||
| chrX:50030458
|
T | C | 1 | a0001c0002t0002g0014 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.17-11858T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50030458 | ||||||
| chrX:50030507
|
A | G | 1 | a0001c0001t0001g0044 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.17-11809A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50030507 | ||||||
| chrX:50030532
|
C | T | 1 | a0001c0001t0001g0044 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.17-11784C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50030532 | ||||||
| chrX:50030564
|
G | A | 2 | a0001c0001t0004g0163a0002c0005t0020g0001 | 2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.17-11752G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50030564 | ||||||
| chrX:50030734
|
A | G | 1 | a0002c0005t0020g0001 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.17-11582A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50030734 | ||||||
| chrX:50031181
|
TA | T | 2 | a0001c0003t0003g0161a0001c0003t0003g0162 | 2 | HG03195.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.17-11129delA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50031181 | |||||
| chrX:50031183
|
A | G | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-11133A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50031183 | ||||||
| chrX:50031463
|
G | C | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-10853G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50031463 | ||||||
| chrX:50031473
|
TA | T | 3 | a0001c0003t0003g0164a0001c0003t0003g0165a0001c0003t0003g0166 | 3 | HG01884.hp1 HG02486.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.17-10842delA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50031473 | ||||||
| chrX:50031717
|
T | TTTA | 1 | a0001c0001t0001g0087 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.17-10582_17-10580d others(5): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50031717 | |||||
| chrX:50031863
|
T | TC | 2 | a0001c0001t0001g0033a0003c0008t0019g0039 | 2 | NA18965.hp1 NA18974.hp1 |
intron_variant | MODIFIER | c.17-10447dupC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50031863 | |||||
| chrX:50031868
|
C | A | 1 | a0001c0001t0001g0118 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.17-10448C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50031868 | ||||||
| chrX:50031870
|
T | TC | 1 | a0001c0001t0001g0025 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.17-10440dupC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50031870 | |||||
| chrX:50031981
|
G | C | 3 | a0001c0003t0003g0164a0001c0003t0003g0165a0001c0003t0003g0166 | 3 | HG01884.hp1 HG02486.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.17-10335G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50031981 | ||||||
| chrX:50032196
|
T | G | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-10120T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50032196 | ||||||
| chrX:50032269
|
G | A | 1 | a0001c0001t0001g0141 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.17-10047G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50032269 | ||||||
| chrX:50032324
|
A | C | 8 | a0001c0001t0001g0123a0001c0001t0004g0169a0001c0001t0027g0132others(5): Show | 8 | HG00738.hp1 HG02280.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.17-9992A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50032324 | ||||||
| chrX:50032399
|
A | C | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-9917A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50032399 | ||||||
| chrX:50032483
|
T | C | 1 | a0001c0001t0001g0130 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.17-9833T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50032483 | ||||||
| chrX:50032546
|
T | C | 21 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(18): Show | 21 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(18): Show |
intron_variant | MODIFIER | c.17-9770T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50032546 | ||||||
| chrX:50032593
|
T | G | 1 | a0001c0001t0001g0151 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.17-9723T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50032593 | ||||||
| chrX:50032597
|
T | C | 1 | a0001c0001t0001g0151 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.17-9719T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50032597 | ||||||
| chrX:50032606
|
C | G | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-9710C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50032606 | ||||||
| chrX:50032614
|
A | C | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-9702A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50032614 | ||||||
| chrX:50032707
|
G | A | 12 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0001t0001g0125others(9): Show | 12 | HG00741.hp2 HG01070.hp2 HG01081.hp2 others(9): Show |
intron_variant | MODIFIER | c.17-9609G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50032707 | ||||||
| chrX:50032777
|
G | A | 32 | a0001c0001t0001g0123a0001c0001t0004g0163a0001c0001t0004g0169others(29): Show | 32 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(29): Show |
intron_variant | MODIFIER | c.17-9539G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50032777 | ||||||
| chrX:50032861
|
G | A | 1 | a0001c0001t0001g0074 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.17-9455G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50032861 | ||||||
| chrX:50032863
|
T | G | 1 | a0001c0001t0001g0074 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.17-9453T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50032863 | ||||||
| chrX:50032913
|
A | G | 1 | a0001c0002t0002g0011 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.17-9403A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50032913 | ||||||
| chrX:50033354
|
A | G | 1 | a0001c0001t0001g0080 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.17-8962A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50033354 | ||||||
| chrX:50033377
|
GACAA | G | 6 | a0001c0001t0001g0050a0001c0001t0001g0054a0001c0001t0001g0058others(3): Show | 6 | HG01243.hp1 HG02647.hp1 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.17-8935_17-8932del others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50033377 | |||||
| chrX:50033545
|
C | T | 1 | a0002c0005t0020g0001 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.17-8771C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50033545 | ||||||
| chrX:50033594
|
C | G | 2 | a0001c0001t0010g0158a0001c0001t0010g0159 | 2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.17-8722C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50033594 | ||||||
| chrX:50033605
|
A | G | 3 | a0001c0003t0003g0164a0001c0003t0003g0165a0001c0003t0003g0166 | 3 | HG01884.hp1 HG02486.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.17-8711A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50033605 | ||||||
| chrX:50033609
|
G | A | 3 | a0001c0003t0003g0164a0001c0003t0003g0165a0001c0003t0003g0166 | 3 | HG01884.hp1 HG02486.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.17-8707G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50033609 | ||||||
| chrX:50033668
|
C | G | 14 | a0001c0002t0002g0004a0001c0002t0002g0006a0001c0002t0002g0007others(11): Show | 14 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(11): Show |
intron_variant | MODIFIER | c.17-8648C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50033668 | ||||||
| chrX:50034050
|
G | C | 1 | a0001c0001t0012g0142 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.17-8266G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50034050 | ||||||
| chrX:50034221
|
TG | T | 1 | a0001c0001t0001g0085 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.17-8092delG | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50034221 | |||||
| chrX:50034282
|
A | AG | 1 | a0001c0001t0001g0085 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.17-8032dupG | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50034282 | |||||
| chrX:50034301
|
T | C | 1 | a0002c0005t0020g0001 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.17-8015T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50034301 | ||||||
| chrX:50034457
|
T | C | 1 | a0002c0005t0020g0001 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.17-7859T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50034457 | ||||||
| chrX:50034595
|
TG | T | 1 | a0001c0001t0001g0085 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.17-7717delG | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50034595 | |||||
| chrX:50034758
|
C | T | 1 | a0001c0001t0001g0044 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.17-7558C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50034758 | ||||||
| chrX:50034812
|
CT | C | 1 | a0001c0001t0001g0085 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.17-7502delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50034812 | |||||
| chrX:50034990
|
A | C | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-7326A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50034990 | ||||||
| chrX:50035399
|
A | T | 3 | a0001c0003t0003g0164a0001c0003t0003g0165a0001c0003t0003g0166 | 3 | HG01884.hp1 HG02486.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.17-6917A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50035399 | ||||||
| chrX:50036207
|
ATTC | A | 44 | a0001c0001t0001g0027a0001c0001t0001g0123a0001c0001t0001g0124others(41): Show | 44 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(41): Show |
intron_variant | MODIFIER | c.17-6104_17-6102del others(3): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50036207 | |||||
| chrX:50036820
|
T | C | 17 | a0001c0002t0002g0004a0001c0002t0002g0006a0001c0002t0002g0007others(14): Show | 17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.17-5496T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50036820 | ||||||
| chrX:50036956
|
G | A | 44 | a0001c0001t0001g0027a0001c0001t0001g0123a0001c0001t0001g0124others(41): Show | 44 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(41): Show |
intron_variant | MODIFIER | c.17-5360G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50036956 | ||||||
| chrX:50037019
|
T | A | 1 | a0001c0001t0001g0127 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.17-5297T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50037019 | ||||||
| chrX:50037252
|
G | A | 44 | a0001c0001t0001g0027a0001c0001t0001g0123a0001c0001t0001g0124others(41): Show | 44 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(41): Show |
intron_variant | MODIFIER | c.17-5064G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50037252 | ||||||
| chrX:50037939
|
A | T | 44 | a0001c0001t0001g0027a0001c0001t0001g0123a0001c0001t0001g0124others(41): Show | 44 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(41): Show |
intron_variant | MODIFIER | c.17-4377A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50037939 | ||||||
| chrX:50037941
|
A | G | 1 | a0001c0001t0027g0132 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.17-4375A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50037941 | ||||||
| chrX:50038375
|
T | C | 1 | a0001c0001t0001g0104 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.17-3941T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50038375 | ||||||
| chrX:50038980
|
C | A | 1 | a0001c0001t0001g0109 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.17-3336C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50038980 | ||||||
| chrX:50038982
|
A | G | 1 | a0001c0001t0001g0090 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.17-3334A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50038982 | ||||||
| chrX:50039017
|
G | A | 6 | a0001c0001t0005g0170a0001c0001t0005g0171a0001c0001t0005g0172others(3): Show | 6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.17-3299G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50039017 | ||||||
| chrX:50039184
|
C | T | 4 | a0001c0001t0001g0042a0001c0001t0001g0109a0001c0001t0001g0110others(1): Show | 4 | HG00621.hp1 NA18944.hp1 NA18984.hp1 others(1): Show |
intron_variant | MODIFIER | c.17-3132C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50039184 | ||||||
| chrX:50039306
|
C | A | 44 | a0001c0001t0001g0027a0001c0001t0001g0123a0001c0001t0001g0124others(41): Show | 44 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(41): Show |
intron_variant | MODIFIER | c.17-3010C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50039306 | ||||||
| chrX:50039542
|
A | G | 4 | a0001c0001t0001g0046a0001c0001t0001g0068a0001c0001t0001g0069others(1): Show | 4 | NA18960.hp1 NA19007.hp1 NA19063.hp1 others(1): Show |
intron_variant | MODIFIER | c.17-2774A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50039542 | ||||||
| chrX:50039701
|
C | CT | 4 | a0001c0001t0001g0123a0001c0003t0003g0018a0001c0003t0003g0168others(1): Show | 4 | HG00738.hp1 HG02280.hp1 HG02809.hp2 others(1): Show |
intron_variant | MODIFIER | c.17-2606dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50039701 | |||||
| chrX:50039715
|
T | C | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-2601T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50039715 | ||||||
| chrX:50039785
|
C | T | 14 | a0001c0002t0002g0004a0001c0002t0002g0006a0001c0002t0002g0007others(11): Show | 14 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(11): Show |
intron_variant | MODIFIER | c.17-2531C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50039785 | ||||||
| chrX:50039881
|
C | T | 1 | a0001c0001t0025g0092 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.17-2435C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50039881 | ||||||
| chrX:50039986
|
C | G | 1 | a0002c0005t0020g0001 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.17-2330C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50039986 | ||||||
| chrX:50040576
|
T | G | 1 | a0001c0001t0001g0091 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.17-1740T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50040576 | ||||||
| chrX:50040599
|
C | T | 1 | a0001c0001t0001g0151 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.17-1717C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50040599 | ||||||
| chrX:50040720
|
A | C | 6 | a0001c0001t0005g0170a0001c0001t0005g0171a0001c0001t0005g0172others(3): Show | 6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.17-1596A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50040720 | ||||||
| chrX:50040852
|
C | T | 1 | a0002c0005t0020g0001 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.17-1464C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50040852 | ||||||
| chrX:50041297
|
A | G | 6 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0001t0001g0125others(3): Show | 6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.17-1019A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50041297 | ||||||
| chrX:50041572
|
A | G | 1 | a0001c0001t0001g0141 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.17-744A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50041572 | ||||||
| chrX:50041629
|
T | G | 19 | a0001c0001t0004g0163a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-687T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50041629 | ||||||
| chrX:50042261
|
G | A | 2 | a0001c0003t0003g0018a0001c0003t0003g0168 | 2 | HG02280.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.17-55G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50042261 | ||||||
| chrX:50043141
|
C | T | 14 | a0001c0002t0002g0004a0001c0002t0002g0006a0001c0002t0002g0007others(11): Show | 14 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(11): Show |
intron_variant | MODIFIER | c.163+679C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50043141 | ||||||
| chrX:50043570
|
G | A | 32 | a0001c0001t0001g0123a0001c0001t0004g0163a0001c0001t0004g0169others(29): Show | 32 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(29): Show |
intron_variant | MODIFIER | c.163+1108G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50043570 | ||||||
| chrX:50044200
|
T | TTTA | 1 | a0001c0001t0001g0019 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.163+1750_163+1752d others(5): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50044200 | |||||
| chrX:50044224
|
C | A | 27 | a0001c0001t0001g0123a0001c0001t0004g0163a0001c0001t0004g0169others(24): Show | 27 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.163+1762C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50044224 | ||||||
| chrX:50044312
|
C | G | 1 | a0001c0001t0001g0084 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.163+1850C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50044312 | ||||||
| chrX:50044425
|
A | G | 3 | a0001c0001t0004g0169a0001c0003t0003g0161a0001c0003t0003g0162 | 3 | HG03195.hp2 HG03209.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.163+1963A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50044425 | ||||||
| chrX:50044493
|
C | CA | 1 | a0001c0001t0001g0066 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.163+2032dupA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50044493 | |||||
| chrX:50044693
|
G | C | 27 | a0001c0001t0001g0123a0001c0001t0004g0163a0001c0001t0004g0169others(24): Show | 27 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.163+2231G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50044693 | ||||||
| chrX:50045862
|
CT | C | 6 | a0001c0001t0005g0170a0001c0001t0005g0171a0001c0001t0005g0172others(3): Show | 6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.163+3401delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50045862 | ||||||
| chrX:50046072
|
TGGTTAAA others(2): Show |
T | 1 | a0001c0001t0001g0129 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.163+3611_163+3619d others(11): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50046072 | ||||||
| chrX:50046082
|
C | T | 1 | a0001c0001t0001g0129 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.163+3620C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50046082 | ||||||
| chrX:50046536
|
G | T | 1 | a0001c0001t0015g0137 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.163+4074G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50046536 | ||||||
| chrX:50047100
|
A | T | 1 | a0001c0001t0012g0142 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.163+4638A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50047100 | ||||||
| chrX:50047350
|
T | C | 8 | a0001c0001t0001g0123a0001c0001t0004g0169a0001c0001t0027g0132others(5): Show | 8 | HG00738.hp1 HG02280.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.163+4888T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50047350 | ||||||
| chrX:50047379
|
T | TA | 3 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0007t0001g0028 | 3 | HG02451.hp2 HG02970.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.163+4926dupA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50047379 | |||||
| chrX:50047481
|
T | TTTA | 1 | a0001c0001t0001g0077 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.163+5020_163+5022d others(5): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50047481 | |||||
| chrX:50047648
|
T | C | 1 | a0001c0001t0001g0123 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.163+5186T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50047648 | ||||||
| chrX:50047682
|
CT | C | 1 | a0001c0001t0001g0091 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.163+5222delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50047682 | |||||
| chrX:50047776
|
T | C | 5 | a0001c0001t0001g0090a0001c0001t0001g0140a0001c0001t0001g0145others(2): Show | 5 | HG02735.hp1 HG03490.hp1 HG03492.hp1 others(2): Show |
intron_variant | MODIFIER | c.163+5314T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50047776 | ||||||
| chrX:50047802
|
A | T | 27 | a0001c0001t0001g0123a0001c0001t0004g0163a0001c0001t0004g0169others(24): Show | 27 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.163+5340A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50047802 | ||||||
| chrX:50047833
|
G | A | 1 | a0001c0001t0001g0116 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.163+5371G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50047833 | ||||||
| chrX:50048012
|
G | A | 1 | a0001c0001t0001g0157 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.163+5550G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50048012 | ||||||
| chrX:50048092
|
C | T | 1 | a0001c0001t0001g0129 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.163+5630C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50048092 | ||||||
| chrX:50048311
|
C | T | 1 | a0001c0001t0001g0020 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.163+5849C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50048311 | ||||||
| chrX:50048357
|
C | T | 11 | a0001c0001t0001g0050a0001c0001t0001g0054a0001c0001t0001g0056others(8): Show | 11 | HG01099.hp1 HG01243.hp1 HG01433.hp1 others(8): Show |
intron_variant | MODIFIER | c.163+5895C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50048357 | ||||||
| chrX:50048393
|
A | C | 5 | a0001c0001t0010g0158a0001c0001t0010g0159a0001c0003t0003g0164others(2): Show | 5 | HG01884.hp1 HG02486.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.163+5931A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50048393 | ||||||
| chrX:50049291
|
A | G | 27 | a0001c0001t0001g0123a0001c0001t0004g0163a0001c0001t0004g0169others(24): Show | 27 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.163+6829A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50049291 | ||||||
| chrX:50050225
|
G | T | 6 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0001t0001g0125others(3): Show | 6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.163+7763G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50050225 | ||||||
| chrX:50050364
|
G | GTTTGCAT others(19): Show |
1 | a0001c0001t0001g0146 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.163+7905_163+7930d others(28): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50050364 | |||||
| chrX:50050462
|
A | G | 6 | a0001c0001t0001g0106a0001c0001t0001g0107a0001c0001t0001g0108others(3): Show | 6 | NA18974.hp1 NA19006.hp1 NA19070.hp1 others(3): Show |
intron_variant | MODIFIER | c.163+8000A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50050462 | ||||||
| chrX:50050487
|
C | G | 27 | a0001c0001t0001g0123a0001c0001t0004g0163a0001c0001t0004g0169others(24): Show | 27 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.163+8025C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50050487 | ||||||
| chrX:50050516
|
T | G | 27 | a0001c0001t0001g0123a0001c0001t0004g0163a0001c0001t0004g0169others(24): Show | 27 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.163+8054T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50050516 | ||||||
| chrX:50050527
|
T | A | 1 | a0001c0001t0008g0098 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.163+8065T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50050527 | ||||||
| chrX:50050657
|
C | CT | 33 | a0001c0001t0001g0046a0001c0001t0001g0048a0001c0001t0001g0066others(30): Show | 33 | HG00280.hp1 HG00738.hp1 HG01167.hp1 others(30): Show |
intron_variant | MODIFIER | c.163+8215dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50050657 | |||||
| chrX:50050657
|
C | CTT | 6 | a0001c0002t0002g0004a0001c0002t0002g0009a0001c0002t0004g0002others(3): Show | 6 | HG01255.hp1 HG02145.hp1 HG02622.hp2 others(3): Show |
intron_variant | MODIFIER | c.163+8214_163+8215d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50050657 | |||||
| chrX:50050657
|
CT | C | 14 | a0001c0001t0001g0027a0001c0001t0001g0047a0001c0001t0001g0124others(11): Show | 14 | HG00741.hp2 HG01070.hp2 HG01081.hp2 others(11): Show |
intron_variant | MODIFIER | c.163+8215delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50050657 | |||||
| chrX:50050657
|
CTTTT | C | 2 | a0001c0003t0003g0018a0001c0003t0003g0168 | 2 | HG02280.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.163+8212_163+8215d others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50050657 | |||||
| chrX:50050723
|
C | G | 27 | a0001c0001t0001g0123a0001c0001t0004g0163a0001c0001t0004g0169others(24): Show | 27 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.163+8261C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50050723 | ||||||
| chrX:50050884
|
C | G | 27 | a0001c0001t0001g0123a0001c0001t0004g0163a0001c0001t0004g0169others(24): Show | 27 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.163+8422C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50050884 | ||||||
| chrX:50050951
|
T | C | 1 | a0001c0001t0001g0073 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.163+8489T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50050951 | ||||||
| chrX:50050957
|
T | C | 1 | a0001c0001t0001g0073 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.163+8495T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50050957 | ||||||
| chrX:50050961
|
CGT | C | 1 | a0001c0001t0001g0073 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.163+8501_163+8502d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50050961 | |||||
| chrX:50051431
|
G | C | 1 | a0001c0001t0004g0163 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.163+8969G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50051431 | ||||||
| chrX:50051506
|
T | C | 1 | a0001c0001t0001g0152 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.163+9044T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50051506 | ||||||
| chrX:50051703
|
G | A | 17 | a0001c0002t0002g0004a0001c0002t0002g0006a0001c0002t0002g0007others(14): Show | 17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.163+9241G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50051703 | ||||||
| chrX:50052199
|
T | G | 2 | a0001c0001t0001g0046a0001c0001t0001g0068 | 2 | NA18960.hp1 NA19007.hp1 |
intron_variant | MODIFIER | c.163+9737T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50052199 | ||||||
| chrX:50052237
|
T | A | 1 | a0001c0003t0003g0175 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.163+9775T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50052237 | ||||||
| chrX:50052475
|
C | T | 14 | a0001c0002t0002g0004a0001c0002t0002g0006a0001c0002t0002g0007others(11): Show | 14 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(11): Show |
intron_variant | MODIFIER | c.163+10013C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50052475 | ||||||
| chrX:50052765
|
T | C | 17 | a0001c0002t0002g0004a0001c0002t0002g0006a0001c0002t0002g0007others(14): Show | 17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.163+10303T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50052765 | ||||||
| chrX:50053295
|
C | T | 1 | a0001c0001t0001g0083 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.163+10833C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50053295 | ||||||
| chrX:50053651
|
A | T | 1 | a0001c0001t0001g0073 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.163+11189A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50053651 | ||||||
| chrX:50054395
|
A | G | 1 | a0001c0001t0016g0043 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.163+11933A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50054395 | ||||||
| chrX:50054552
|
C | CA | 8 | a0001c0001t0001g0123a0001c0001t0004g0169a0001c0001t0027g0132others(5): Show | 8 | HG00738.hp1 HG02280.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.163+12091dupA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50054552 | |||||
| chrX:50054557
|
C | T | 27 | a0001c0001t0001g0123a0001c0001t0004g0163a0001c0001t0004g0169others(24): Show | 27 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.163+12095C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50054557 | ||||||
| chrX:50055051
|
G | A | 1 | a0001c0001t0022g0115 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.163+12589G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50055051 | ||||||
| chrX:50055074
|
A | G | 1 | a0001c0002t0024g0010 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.163+12612A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50055074 | ||||||
| chrX:50055741
|
CA | C | 1 | a0001c0001t0001g0112 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.163+13284delA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50055741 | |||||
| chrX:50055815
|
A | G | 6 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0001t0001g0125others(3): Show | 6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.163+13353A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50055815 | ||||||
| chrX:50055884
|
C | T | 6 | a0001c0001t0005g0170a0001c0001t0005g0171a0001c0001t0005g0172others(3): Show | 6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.163+13422C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50055884 | ||||||
| chrX:50055943
|
CTGGGTTT others(45): Show |
C | 1 | a0001c0001t0001g0060 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.163+13484_163+1353 others(56): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50055943 | |||||
| chrX:50056019
|
TTAAG | T | 10 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0031others(7): Show | 10 | HG01192.hp1 HG01258.hp1 HG01928.hp1 others(7): Show |
intron_variant | MODIFIER | c.163+13561_163+1356 others(8): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50056019 | |||||
| chrX:50056038
|
GAT | G | 1 | a0001c0001t0001g0095 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.163+13588_163+1358 others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50056038 | |||||
| chrX:50056052
|
G | GAT | 1 | a0002c0005t0020g0001 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.163+13603_163+1360 others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50056052 | |||||
| chrX:50056208
|
C | T | 44 | a0001c0001t0001g0027a0001c0001t0001g0123a0001c0001t0001g0124others(41): Show | 44 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(41): Show |
intron_variant | MODIFIER | c.164-13671C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50056208 | ||||||
| chrX:50056244
|
GAAGAACT others(20): Show |
G | 1 | a0001c0001t0001g0112 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.164-13633_164-1360 others(31): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50056244 | |||||
| chrX:50056814
|
T | TCCCTATG others(19): Show |
1 | a0001c0001t0001g0046 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.164-13063_164-1303 others(30): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50056814 | |||||
| chrX:50056849
|
T | A | 27 | a0001c0001t0001g0123a0001c0001t0004g0163a0001c0001t0004g0169others(24): Show | 27 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.164-13030T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50056849 | ||||||
| chrX:50056935
|
C | G | 1 | a0001c0001t0001g0076 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.164-12944C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50056935 | ||||||
| chrX:50057068
|
T | A | 2 | a0001c0003t0003g0018a0001c0003t0003g0168 | 2 | HG02280.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.164-12811T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057068 | ||||||
| chrX:50057374
|
G | GGTCCTGG others(227): Show |
1 | a0001c0003t0003g0018 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.164-12479_164-1247 others(238): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057374 | |||||
| chrX:50057375
|
G | GTCCTGGA others(903): Show |
4 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0001t0001g0125others(1): Show | 4 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.164-12493_164-1249 others(914): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(1033): Show |
1 | a0001c0007t0001g0028 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.164-12493_164-1249 others(1044): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(1163): Show |
1 | a0001c0001t0001g0127 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.164-12493_164-1249 others(1174): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(2255): Show |
1 | a0001c0001t0001g0157 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.164-12449_164-1244 others(2266): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(617): Show |
1 | a0001c0001t0001g0086 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(628): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(799): Show |
1 | a0001c0001t0001g0167 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(810): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(825): Show |
1 | a0001c0001t0004g0163 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(836): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(851): Show |
1 | a0001c0001t0001g0075 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.164-12182_164-1218 others(862): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(877): Show |
1 | a0001c0001t0001g0020 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(888): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(981): Show |
1 | a0001c0001t0001g0149 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(992): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(1059): Show |
1 | a0001c0001t0001g0031 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(1070): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(1137): Show |
1 | a0001c0001t0001g0023 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.164-12182_164-1218 others(1148): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(1267): Show |
1 | a0001c0001t0001g0080 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(1278): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(1345): Show |
4 | a0001c0001t0001g0033a0001c0001t0001g0034a0001c0001t0001g0057others(1): Show | 4 | HG01943.hp1 HG02056.hp1 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.164-12182_164-1218 others(1356): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(1423): Show |
1 | a0001c0001t0001g0101 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(1434): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(1449): Show |
1 | a0001c0001t0001g0030 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(1460): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(1527): Show |
1 | a0001c0002t0002g0011 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(1538): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(1553): Show |
2 | a0001c0001t0001g0052a0001c0001t0011g0037 | 2 | HG01192.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(1564): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(1579): Show |
1 | a0001c0001t0001g0085 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(1590): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(1605): Show |
1 | a0001c0002t0004g0016 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.164-12182_164-1218 others(1616): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(1631): Show |
1 | a0001c0001t0001g0029 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(1642): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(1683): Show |
1 | a0001c0001t0001g0044 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(1694): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(1709): Show |
1 | a0001c0002t0002g0014 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(1720): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(1735): Show |
2 | a0001c0001t0001g0104a0001c0001t0011g0035 | 2 | HG02135.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(1746): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(1761): Show |
2 | a0001c0001t0001g0151a0001c0001t0001g0152 | 2 | NA18967.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(1772): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(1787): Show |
3 | a0001c0001t0001g0077a0001c0001t0001g0119a0001c0001t0023g0078 | 3 | HG01106.hp1 HG02895.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(1798): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(1813): Show |
1 | a0001c0001t0001g0144 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(1824): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(1865): Show |
1 | a0001c0002t0002g0004 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.164-12182_164-1218 others(1876): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(1917): Show |
1 | a0001c0001t0001g0154 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(1928): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(1943): Show |
1 | a0001c0001t0001g0079 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(1954): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(1969): Show |
2 | a0001c0001t0001g0155a0001c0002t0002g0006 | 2 | NA18522.hp1 NA18970.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(1980): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(1995): Show |
1 | a0001c0001t0022g0115 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(2006): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(2047): Show |
2 | a0001c0001t0001g0032a0001c0001t0001g0036 | 2 | HG03688.hp1 HG04199.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(2058): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(2125): Show |
1 | a0001c0001t0001g0076 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(2136): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(2151): Show |
3 | a0001c0001t0005g0173a0001c0002t0002g0013a0001c0002t0009g0015 | 3 | HG02630.hp2 HG02970.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(2162): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(2203): Show |
2 | a0001c0001t0001g0156a0001c0006t0002g0133 | 2 | HG00673.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(2214): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(2229): Show |
3 | a0001c0001t0001g0025a0001c0002t0002g0009a0001c0002t0009g0017 | 3 | HG01934.hp1 HG02145.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(2240): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(2255): Show |
5 | a0001c0001t0001g0022a0001c0001t0001g0058a0001c0001t0005g0170others(2): Show | 5 | HG01081.hp2 HG01243.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.164-12182_164-1218 others(2266): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(2307): Show |
1 | a0001c0009t0003g0005 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(2318): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(2411): Show |
2 | a0001c0001t0005g0171a0001c0002t0002g0012 | 2 | NA20129.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(2422): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(2437): Show |
2 | a0001c0001t0001g0117a0001c0002t0002g0007 | 2 | HG02615.hp2 HG03654.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(2448): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(2489): Show |
1 | a0001c0001t0001g0021 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(2500): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(2515): Show |
1 | a0001c0001t0001g0153 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(2526): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(2541): Show |
2 | a0001c0001t0005g0174a0001c0002t0004g0003 | 2 | HG02965.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(2552): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(2619): Show |
1 | a0001c0001t0001g0145 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(2630): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(2645): Show |
3 | a0001c0001t0001g0097a0001c0001t0001g0136a0001c0001t0001g0148 | 3 | NA18612.hp1 NA18988.hp1 NA19072.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(2656): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(2697): Show |
1 | a0001c0001t0001g0116 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(2708): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(2723): Show |
3 | a0001c0001t0001g0073a0001c0001t0001g0095a0001c0001t0001g0100 | 3 | HG00741.hp1 HG02040.hp1 NA19000.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(2734): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(2749): Show |
1 | a0001c0001t0001g0024 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(2760): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(2801): Show |
1 | a0001c0001t0001g0091 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(2812): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(2827): Show |
1 | a0001c0001t0001g0107 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(2838): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(2853): Show |
1 | a0001c0001t0006g0134 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(2864): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(2879): Show |
2 | a0001c0001t0017g0113a0001c0002t0004g0002 | 2 | NA18990.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(2890): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(2905): Show |
3 | a0001c0001t0001g0072a0001c0001t0001g0109a0003c0008t0019g0039 | 3 | HG00621.hp1 NA18974.hp1 NA18977.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(2916): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(2931): Show |
3 | a0001c0001t0001g0074a0001c0001t0001g0110a0001c0001t0006g0135 | 3 | NA18944.hp1 NA18986.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(2942): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(2983): Show |
2 | a0001c0001t0001g0083a0001c0001t0001g0106 | 2 | HG02602.hp1 NA19083.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(2994): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(3035): Show |
1 | a0001c0001t0001g0108 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(3046): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(3113): Show |
2 | a0001c0001t0001g0053a0001c0001t0001g0111 | 2 | NA18952.hp1 NA19067.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(3124): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(3139): Show |
1 | a0001c0001t0001g0121 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(3150): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(3165): Show |
1 | a0001c0001t0007g0093 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(3176): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(3217): Show |
1 | a0001c0001t0008g0082 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(3228): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(3243): Show |
4 | a0001c0001t0001g0042a0001c0001t0001g0090a0001c0001t0001g0103others(1): Show | 4 | HG02735.hp1 NA18943.hp1 NA18984.hp1 others(1): Show |
intron_variant | MODIFIER | c.164-12182_164-1218 others(3254): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(3269): Show |
2 | a0001c0001t0001g0114a0001c0001t0018g0122 | 2 | HG01358.hp1 NA19004.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(3280): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(3321): Show |
1 | a0001c0001t0001g0140 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(3332): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(3347): Show |
2 | a0001c0001t0001g0084a0001c0001t0008g0098 | 2 | HG01952.hp1 NA18994.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(3358): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(3373): Show |
1 | a0001c0001t0001g0054 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(3384): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(3425): Show |
2 | a0001c0001t0001g0038a0001c0001t0001g0131 | 2 | HG02922.hp1 NA18971.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(3436): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(3451): Show |
3 | a0001c0001t0001g0050a0001c0001t0001g0118a0001c0001t0016g0043 | 3 | HG01884.hp2 HG02886.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(3462): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(3477): Show |
3 | a0001c0001t0001g0063a0001c0001t0001g0146a0001c0001t0026g0143 | 3 | HG01074.hp1 HG02015.hp1 HG03017.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(3488): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(3555): Show |
1 | a0001c0001t0001g0160 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(3566): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(3607): Show |
2 | a0001c0001t0001g0047a0001c0001t0001g0102 | 2 | HG02074.hp1 NA19068.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(3618): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(3633): Show |
1 | a0001c0001t0001g0070 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(3644): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(3659): Show |
1 | a0001c0001t0001g0068 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(3670): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(3685): Show |
3 | a0001c0001t0001g0065a0001c0001t0001g0089a0001c0001t0001g0096 | 3 | HG01261.hp1 NA18982.hp1 NA18983.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(3696): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(3737): Show |
3 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0069 | 3 | NA19062.hp1 NA19063.hp1 NA19079.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(3748): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(3763): Show |
3 | a0001c0001t0001g0130a0001c0001t0001g0150a0001c0004t0001g0055 | 3 | HG02258.hp1 HG04228.hp1 NA18966.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(3774): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(3789): Show |
3 | a0001c0001t0001g0046a0001c0001t0001g0056a0001c0001t0001g0141 | 3 | HG02132.hp1 NA18960.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(3800): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(3815): Show |
2 | a0001c0001t0001g0019a0001c0001t0001g0147 | 2 | HG03492.hp1 NA18989.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(3826): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(3841): Show |
2 | a0001c0001t0001g0129a0001c0001t0015g0137 | 2 | HG03710.hp1 NA18955.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(3852): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(3919): Show |
1 | a0002c0005t0020g0001 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(3930): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(3945): Show |
2 | a0001c0001t0012g0142a0001c0001t0021g0088 | 2 | HG00280.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(3956): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(3997): Show |
2 | a0001c0001t0001g0099a0001c0001t0007g0120 | 2 | HG00609.hp1 HG02738.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(4008): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(4101): Show |
1 | a0001c0001t0001g0139 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(4112): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(4127): Show |
1 | a0001c0001t0001g0066 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(4138): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(4153): Show |
1 | a0001c0001t0001g0067 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(4164): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(4205): Show |
1 | a0001c0001t0001g0138 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(4216): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(4413): Show |
1 | a0001c0001t0013g0094 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(4424): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(4569): Show |
1 | a0001c0001t0001g0064 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(4580): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(3061): Show |
1 | a0001c0001t0001g0081 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(3072): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(3738): Show |
1 | a0001c0001t0001g0048 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(3749): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(3921): Show |
1 | a0001c0001t0001g0060 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(3932): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(1787): Show |
1 | a0001c0001t0001g0026 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(1798): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(3789): Show |
1 | a0001c0001t0001g0061 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(3800): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(3737): Show |
1 | a0001c0001t0001g0062 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(3748): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(3633): Show |
1 | a0001c0001t0001g0105 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(3644): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(2827): Show |
1 | a0001c0001t0001g0071 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(2838): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(4023): Show |
1 | a0001c0001t0001g0059 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(4034): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(1735): Show |
1 | a0001c0002t0024g0010 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.164-12255_164-1225 others(1746): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(2880): Show |
1 | a0001c0001t0001g0112 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.164-12414_164-1241 others(2891): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057375
|
G | GTCCTGGA others(279): Show |
1 | a0001c0003t0003g0168 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.164-12479_164-1247 others(290): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | |||||
| chrX:50057387
|
T | C | 6 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0001t0001g0125others(3): Show | 6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.164-12492T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057387 | ||||||
| chrX:50057394
|
C | CAG | 5 | a0001c0001t0010g0158a0001c0001t0010g0159a0001c0003t0003g0164others(2): Show | 5 | HG01884.hp1 HG02486.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.164-12484_164-1248 others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057394 | |||||
| chrX:50057401
|
C | G | 7 | a0001c0001t0001g0123a0001c0001t0004g0169a0001c0001t0027g0132others(4): Show | 7 | HG00738.hp1 HG02809.hp2 HG02922.hp2 others(4): Show |
intron_variant | MODIFIER | c.164-12478C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057401 | ||||||
| chrX:50057413
|
T | C | 6 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0001t0001g0125others(3): Show | 6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.164-12466T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057413 | ||||||
| chrX:50057420
|
C | CAG | 5 | a0001c0001t0010g0158a0001c0001t0010g0159a0001c0003t0003g0164others(2): Show | 5 | HG01884.hp1 HG02486.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.164-12458_164-1245 others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057420 | |||||
| chrX:50057427
|
C | G | 5 | a0001c0001t0001g0123a0001c0001t0004g0169a0001c0001t0027g0132others(2): Show | 5 | HG02809.hp2 HG03195.hp2 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.164-12452C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057427 | ||||||
| chrX:50057439
|
T | C | 6 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0001t0001g0125others(3): Show | 6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.164-12440T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057439 | ||||||
| chrX:50057446
|
C | CAG | 5 | a0001c0001t0010g0158a0001c0001t0010g0159a0001c0003t0003g0164others(2): Show | 5 | HG01884.hp1 HG02486.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.164-12432_164-1243 others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057446 | |||||
| chrX:50057453
|
C | G | 4 | a0001c0001t0004g0169a0001c0001t0027g0132a0001c0003t0003g0162others(1): Show | 4 | HG00738.hp1 HG03195.hp2 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.164-12426C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057453 | ||||||
| chrX:50057465
|
T | C | 6 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0001t0001g0125others(3): Show | 6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.164-12414T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057465 | ||||||
| chrX:50057472
|
C | CAG | 5 | a0001c0001t0010g0158a0001c0001t0010g0159a0001c0003t0003g0164others(2): Show | 5 | HG01884.hp1 HG02486.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.164-12406_164-1240 others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057472 | |||||
| chrX:50057479
|
C | G | 3 | a0001c0001t0001g0123a0001c0001t0027g0132a0001c0003t0003g0175 | 3 | HG00738.hp1 HG02809.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.164-12400C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057479 | ||||||
| chrX:50057491
|
T | C | 6 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0001t0001g0125others(3): Show | 6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.164-12388T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057491 | ||||||
| chrX:50057498
|
C | CAG | 5 | a0001c0001t0010g0158a0001c0001t0010g0159a0001c0003t0003g0164others(2): Show | 5 | HG01884.hp1 HG02486.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.164-12380_164-1237 others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057498 | |||||
| chrX:50057505
|
C | G | 3 | a0001c0003t0003g0161a0001c0003t0003g0162a0001c0003t0003g0175 | 3 | HG00738.hp1 HG03195.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.164-12374C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057505 | ||||||
| chrX:50057514
|
A | C | 1 | a0001c0001t0004g0169 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.164-12365A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057514 | ||||||
| chrX:50057517
|
T | C | 6 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0001t0001g0125others(3): Show | 6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.164-12362T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057517 | ||||||
| chrX:50057524
|
C | CAG | 5 | a0001c0001t0010g0158a0001c0001t0010g0159a0001c0003t0003g0164others(2): Show | 5 | HG01884.hp1 HG02486.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.164-12354_164-1235 others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057524 | |||||
| chrX:50057540
|
A | C | 1 | a0001c0001t0004g0169 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.164-12339A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057540 | ||||||
| chrX:50057541
|
G | GATACTAT others(1154): Show |
1 | a0001c0001t0001g0123 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.164-12262_164-1226 others(1165): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057541 | |||||
| chrX:50057543
|
T | C | 6 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0001t0001g0125others(3): Show | 6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.164-12336T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057543 | ||||||
| chrX:50057546
|
T | TATCCAGG others(634): Show |
1 | a0001c0001t0004g0169 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.164-12314_164-1231 others(645): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057546 | |||||
| chrX:50057550
|
C | CAG | 5 | a0001c0001t0010g0158a0001c0001t0010g0159a0001c0003t0003g0164others(2): Show | 5 | HG01884.hp1 HG02486.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.164-12328_164-1232 others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057550 | |||||
| chrX:50057567
|
G | C | 2 | a0001c0001t0001g0123a0001c0001t0004g0169 | 2 | HG02809.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.164-12312G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057567 | ||||||
| chrX:50057569
|
T | C | 6 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0001t0001g0125others(3): Show | 6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.164-12310T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057569 | ||||||
| chrX:50057576
|
C | CAG | 5 | a0001c0001t0010g0158a0001c0001t0010g0159a0001c0003t0003g0164others(2): Show | 5 | HG01884.hp1 HG02486.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.164-12302_164-1230 others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057576 | |||||
| chrX:50057590
|
A | ATAGATAC others(1683): Show |
1 | a0001c0002t0002g0128 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(1694): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057590 | |||||
| chrX:50057593
|
G | C | 2 | a0001c0001t0001g0123a0001c0001t0004g0169 | 2 | HG02809.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.164-12286G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057593 | ||||||
| chrX:50057593
|
G | GATACTAT others(1466): Show |
1 | a0001c0003t0003g0162 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.164-12210_164-1220 others(1477): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057593 | |||||
| chrX:50057595
|
T | C | 6 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0001t0001g0125others(3): Show | 6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.164-12284T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057595 | ||||||
| chrX:50057602
|
C | CAG | 5 | a0001c0001t0010g0158a0001c0001t0010g0159a0001c0003t0003g0164others(2): Show | 5 | HG01884.hp1 HG02486.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.164-12276_164-1227 others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057602 | |||||
| chrX:50057618
|
A | C | 1 | a0001c0003t0003g0018 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.164-12261A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057618 | ||||||
| chrX:50057619
|
G | C | 3 | a0001c0001t0001g0123a0001c0001t0004g0169a0001c0003t0003g0162 | 3 | HG02809.hp2 HG03195.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.164-12260G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057619 | ||||||
| chrX:50057619
|
G | GATACTAT others(1457): Show |
1 | a0001c0001t0027g0132 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.164-12236_164-1223 others(1468): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057619 | |||||
| chrX:50057621
|
T | C | 6 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0001t0001g0125others(3): Show | 6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.164-12258T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057621 | ||||||
| chrX:50057628
|
C | CAG | 5 | a0001c0001t0010g0158a0001c0001t0010g0159a0001c0003t0003g0164others(2): Show | 5 | HG01884.hp1 HG02486.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.164-12250_164-1224 others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057628 | |||||
| chrX:50057644
|
A | AGATACTA others(1388): Show |
1 | a0001c0003t0003g0161 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(1399): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057644 | |||||
| chrX:50057645
|
G | C | 4 | a0001c0001t0001g0123a0001c0001t0004g0169a0001c0001t0027g0132others(1): Show | 4 | HG02809.hp2 HG03195.hp2 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.164-12234G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057645 | ||||||
| chrX:50057647
|
T | C | 6 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0001t0001g0125others(3): Show | 6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.164-12232T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057647 | ||||||
| chrX:50057648
|
A | ACTATCCA others(4148): Show |
1 | a0001c0001t0001g0087 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(4159): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057648 | |||||
| chrX:50057654
|
C | CAGAGGAC others(219): Show |
3 | a0001c0001t0010g0158a0001c0003t0003g0165a0001c0003t0003g0166 | 3 | HG02486.hp1 HG02622.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.164-12223_164-1222 others(230): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057654 | |||||
| chrX:50057654
|
C | CAGAGGAC others(247): Show |
2 | a0001c0001t0010g0159a0001c0003t0003g0164 | 2 | HG01884.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.164-12223_164-1222 others(258): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057654 | |||||
| chrX:50057671
|
G | C | 5 | a0001c0001t0001g0123a0001c0001t0004g0169a0001c0001t0027g0132others(2): Show | 5 | HG02809.hp2 HG03195.hp2 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.164-12208G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057671 | ||||||
| chrX:50057671
|
G | GATACTAT others(1605): Show |
1 | a0001c0003t0003g0175 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(1616): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057671 | |||||
| chrX:50057671
|
G | GATACTAT others(1561): Show |
1 | a0001c0003t0003g0168 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.164-12184_164-1218 others(1572): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057671 | |||||
| chrX:50057671
|
G | GATACTAT others(2133): Show |
1 | a0001c0003t0003g0018 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.164-12184_164-1218 others(2144): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057671 | |||||
| chrX:50057673
|
T | C | 6 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0001t0001g0125others(3): Show | 6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.164-12206T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057673 | ||||||
| chrX:50057680
|
C | CAG | 5 | a0001c0001t0010g0158a0001c0001t0010g0159a0001c0003t0003g0164others(2): Show | 5 | HG01884.hp1 HG02486.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.164-12198_164-1219 others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057680 | |||||
| chrX:50057681
|
A | AGGACTCT others(3269): Show |
1 | a0001c0004t0001g0051 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.164-12182_164-1218 others(3280): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057681 | |||||
| chrX:50057749
|
C | T | 1 | a0001c0002t0002g0011 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.164-12130C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057749 | ||||||
| chrX:50057766
|
A | C | 1 | a0001c0001t0001g0086 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.164-12113A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057766 | ||||||
| chrX:50058070
|
A | G | 1 | a0001c0001t0001g0079 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.164-11809A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50058070 | ||||||
| chrX:50058300
|
A | G | 6 | a0001c0001t0005g0170a0001c0001t0005g0171a0001c0001t0005g0172others(3): Show | 6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.164-11579A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50058300 | ||||||
| chrX:50058362
|
G | GC | 1 | a0001c0001t0001g0095 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.164-11512dupC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50058362 | |||||
| chrX:50058484
|
GA | G | 1 | a0001c0001t0001g0066 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.164-11386delA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50058484 | |||||
| chrX:50058524
|
G | A | 1 | a0001c0001t0012g0142 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.164-11355G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50058524 | ||||||
| chrX:50058632
|
G | T | 1 | a0001c0001t0001g0073 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.164-11247G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50058632 | ||||||
| chrX:50058699
|
T | C | 2 | a0001c0003t0003g0161a0001c0003t0003g0162 | 2 | HG03195.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.164-11180T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50058699 | ||||||
| chrX:50058720
|
A | C | 1 | a0001c0001t0004g0163 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.164-11159A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50058720 | ||||||
| chrX:50058828
|
C | CT | 1 | a0001c0002t0002g0006 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.164-11041dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50058828 | |||||
| chrX:50058849
|
C | CA | 1 | a0001c0001t0001g0060 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.164-11025dupA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50058849 | |||||
| chrX:50058872
|
A | AC | 2 | a0001c0001t0001g0050a0001c0002t0002g0009 | 2 | HG02145.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.164-11003dupC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50058872 | |||||
| chrX:50059767
|
T | TA | 1 | a0001c0001t0001g0048 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.164-10102dupA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50059767 | |||||
| chrX:50059917
|
C | T | 1 | a0001c0009t0003g0005 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.164-9962C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50059917 | ||||||
| chrX:50060128
|
G | C | 3 | a0001c0003t0003g0164a0001c0003t0003g0165a0001c0003t0003g0166 | 3 | HG01884.hp1 HG02486.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.164-9751G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50060128 | ||||||
| chrX:50060139
|
TCA | T | 1 | a0001c0001t0001g0060 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.164-9738_164-9737d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50060139 | |||||
| chrX:50060274
|
G | C | 2 | a0001c0001t0001g0067a0001c0001t0001g0075 | 2 | HG01069.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.164-9605G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50060274 | ||||||
| chrX:50060282
|
G | A | 1 | a0001c0003t0003g0168 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.164-9597G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50060282 | ||||||
| chrX:50060311
|
G | A | 26 | a0001c0001t0001g0123a0001c0001t0004g0163a0001c0001t0004g0169others(23): Show | 26 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(23): Show |
intron_variant | MODIFIER | c.164-9568G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50060311 | ||||||
| chrX:50060326
|
G | A | 6 | a0001c0001t0005g0170a0001c0001t0005g0171a0001c0001t0005g0172others(3): Show | 6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.164-9553G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50060326 | ||||||
| chrX:50060471
|
C | T | 1 | a0001c0001t0001g0102 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.164-9408C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50060471 | ||||||
| chrX:50060495
|
C | G | 2 | a0001c0003t0003g0164a0001c0003t0003g0166 | 2 | HG01884.hp1 HG02486.hp1 |
intron_variant | MODIFIER | c.164-9384C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50060495 | ||||||
| chrX:50060496
|
G | A | 7 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0001t0001g0125others(4): Show | 7 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(4): Show |
intron_variant | MODIFIER | c.164-9383G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50060496 | ||||||
| chrX:50060507
|
C | T | 1 | a0001c0001t0001g0061 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.164-9372C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50060507 | ||||||
| chrX:50060560
|
G | A | 1 | a0001c0001t0001g0140 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.164-9319G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50060560 | ||||||
| chrX:50060613
|
TAAAC | T | 1 | a0001c0007t0001g0028 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.164-9262_164-9259d others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50060613 | |||||
| chrX:50060626
|
G | C | 3 | a0001c0001t0001g0147a0001c0001t0001g0150a0001c0003t0003g0175 | 3 | HG00738.hp1 HG03492.hp1 HG04228.hp1 |
intron_variant | MODIFIER | c.164-9253G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50060626 | ||||||
| chrX:50060627
|
G | A | 3 | a0001c0001t0001g0147a0001c0001t0001g0150a0001c0003t0003g0175 | 3 | HG00738.hp1 HG03492.hp1 HG04228.hp1 |
intron_variant | MODIFIER | c.164-9252G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50060627 | ||||||
| chrX:50060636
|
G | A | 1 | a0001c0003t0003g0175 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.164-9243G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50060636 | ||||||
| chrX:50060699
|
G | C | 17 | a0001c0002t0002g0004a0001c0002t0002g0006a0001c0002t0002g0007others(14): Show | 17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.164-9180G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50060699 | ||||||
| chrX:50060767
|
C | T | 1 | a0001c0001t0001g0123 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.164-9112C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50060767 | ||||||
| chrX:50060796
|
A | G | 44 | a0001c0001t0001g0027a0001c0001t0001g0123a0001c0001t0001g0124others(41): Show | 44 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(41): Show |
intron_variant | MODIFIER | c.164-9083A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50060796 | ||||||
| chrX:50060856
|
C | T | 2 | a0001c0001t0010g0158a0001c0001t0010g0159 | 2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.164-9023C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50060856 | ||||||
| chrX:50060912
|
G | A | 1 | a0001c0002t0002g0013 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.164-8967G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50060912 | ||||||
| chrX:50060973
|
A | C | 1 | a0001c0001t0001g0053 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.164-8906A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50060973 | ||||||
| chrX:50061086
|
A | G | 3 | a0001c0001t0006g0134a0001c0001t0006g0135a0001c0001t0013g0094 | 3 | HG02129.hp1 NA19009.hp1 NA19066.hp1 |
intron_variant | MODIFIER | c.164-8793A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50061086 | ||||||
| chrX:50061138
|
T | C | 5 | a0001c0001t0010g0158a0001c0001t0010g0159a0001c0003t0003g0164others(2): Show | 5 | HG01884.hp1 HG02486.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.164-8741T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50061138 | ||||||
| chrX:50061139
|
G | A | 5 | a0001c0001t0010g0158a0001c0001t0010g0159a0001c0003t0003g0164others(2): Show | 5 | HG01884.hp1 HG02486.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.164-8740G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50061139 | ||||||
| chrX:50061256
|
TA | T | 1 | a0001c0001t0001g0061 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.164-8615delA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50061256 | |||||
| chrX:50061257
|
A | G | 1 | a0001c0002t0002g0128 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.164-8622A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50061257 | ||||||
| chrX:50061371
|
G | A | 32 | a0001c0001t0001g0123a0001c0001t0004g0163a0001c0001t0004g0169others(29): Show | 32 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(29): Show |
intron_variant | MODIFIER | c.164-8508G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50061371 | ||||||
| chrX:50061595
|
C | A | 1 | a0001c0001t0004g0169 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.164-8284C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50061595 | ||||||
| chrX:50061668
|
T | C | 172 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(169): Show | 172 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(169): Show |
intron_variant | MODIFIER | c.164-8211T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50061668 | ||||||
| chrX:50061704
|
G | T | 32 | a0001c0001t0001g0123a0001c0001t0004g0163a0001c0001t0004g0169others(29): Show | 32 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(29): Show |
intron_variant | MODIFIER | c.164-8175G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50061704 | ||||||
| chrX:50061887
|
A | T | 1 | a0001c0001t0001g0118 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.164-7992A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50061887 | ||||||
| chrX:50061905
|
C | T | 44 | a0001c0001t0001g0027a0001c0001t0001g0123a0001c0001t0001g0124others(41): Show | 44 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(41): Show |
intron_variant | MODIFIER | c.164-7974C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50061905 | ||||||
| chrX:50061960
|
C | G | 6 | a0001c0001t0001g0050a0001c0001t0001g0054a0001c0001t0001g0058others(3): Show | 6 | HG01243.hp1 HG02647.hp1 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.164-7919C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50061960 | ||||||
| chrX:50061961
|
C | A | 6 | a0001c0001t0001g0050a0001c0001t0001g0054a0001c0001t0001g0058others(3): Show | 6 | HG01243.hp1 HG02647.hp1 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.164-7918C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50061961 | ||||||
| chrX:50062041
|
T | C | 27 | a0001c0001t0001g0123a0001c0001t0004g0163a0001c0001t0004g0169others(24): Show | 27 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.164-7838T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50062041 | ||||||
| chrX:50062090
|
G | C | 1 | a0001c0001t0027g0132 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.164-7789G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50062090 | ||||||
| chrX:50062144
|
T | C | 1 | a0001c0001t0012g0142 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.164-7735T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50062144 | ||||||
| chrX:50062394
|
ATCAAAAG others(19): Show |
A | 1 | a0001c0001t0001g0095 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.164-7484_164-7459d others(28): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50062394 | ||||||
| chrX:50062405
|
CAAAG | C | 1 | a0001c0001t0001g0063 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.164-7471_164-7468d others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50062405 | |||||
| chrX:50062535
|
A | T | 170 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(167): Show | 170 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(167): Show |
intron_variant | MODIFIER | c.164-7344A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50062535 | ||||||
| chrX:50062631
|
C | T | 1 | a0001c0001t0001g0127 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.164-7248C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50062631 | ||||||
| chrX:50062654
|
G | A | 27 | a0001c0001t0001g0123a0001c0001t0004g0163a0001c0001t0004g0169others(24): Show | 27 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.164-7225G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50062654 | ||||||
| chrX:50062678
|
A | T | 8 | a0001c0001t0001g0123a0001c0001t0004g0169a0001c0001t0027g0132others(5): Show | 8 | HG00738.hp1 HG02280.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.164-7201A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50062678 | ||||||
| chrX:50062749
|
T | C | 1 | a0001c0001t0001g0077 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.164-7130T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50062749 | ||||||
| chrX:50062751
|
C | G | 33 | a0001c0001t0001g0077a0001c0001t0001g0123a0001c0001t0004g0163others(30): Show | 33 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(30): Show |
intron_variant | MODIFIER | c.164-7128C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50062751 | ||||||
| chrX:50062753
|
G | T | 33 | a0001c0001t0001g0077a0001c0001t0001g0123a0001c0001t0004g0163others(30): Show | 33 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(30): Show |
intron_variant | MODIFIER | c.164-7126G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50062753 | ||||||
| chrX:50062770
|
T | C | 1 | a0001c0001t0001g0020 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.164-7109T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50062770 | ||||||
| chrX:50062787
|
G | A | 11 | a0001c0001t0001g0077a0001c0001t0001g0123a0001c0001t0004g0163others(8): Show | 11 | HG00738.hp1 HG01255.hp1 HG02280.hp1 others(8): Show |
intron_variant | MODIFIER | c.164-7092G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50062787 | ||||||
| chrX:50062975
|
A | C | 5 | a0001c0001t0001g0119a0001c0001t0007g0120a0001c0002t0004g0002others(2): Show | 5 | HG01106.hp1 HG02622.hp2 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.164-6904A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50062975 | ||||||
| chrX:50063115
|
A | G | 3 | a0001c0001t0001g0023a0001c0001t0001g0024a0001c0001t0001g0025 | 3 | HG01934.hp1 HG02280.hp2 HG02630.hp1 |
intron_variant | MODIFIER | c.164-6764A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50063115 | ||||||
| chrX:50063335
|
T | C | 27 | a0001c0001t0001g0123a0001c0001t0004g0163a0001c0001t0004g0169others(24): Show | 27 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.164-6544T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50063335 | ||||||
| chrX:50063342
|
A | C | 27 | a0001c0001t0001g0123a0001c0001t0004g0163a0001c0001t0004g0169others(24): Show | 27 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.164-6537A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50063342 | ||||||
| chrX:50063494
|
A | C | 27 | a0001c0001t0001g0123a0001c0001t0004g0163a0001c0001t0004g0169others(24): Show | 27 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.164-6385A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50063494 | ||||||
| chrX:50063495
|
G | T | 27 | a0001c0001t0001g0123a0001c0001t0004g0163a0001c0001t0004g0169others(24): Show | 27 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.164-6384G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50063495 | ||||||
| chrX:50063563
|
C | A | 1 | a0001c0003t0003g0175 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.164-6316C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50063563 | ||||||
| chrX:50063689
|
A | G | 1 | a0001c0001t0004g0163 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.164-6190A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50063689 | ||||||
| chrX:50063715
|
A | T | 3 | a0001c0003t0003g0164a0001c0003t0003g0165a0001c0003t0003g0166 | 3 | HG01884.hp1 HG02486.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.164-6164A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50063715 | ||||||
| chrX:50063743
|
C | G | 2 | a0001c0002t0002g0011a0001c0002t0002g0128 | 2 | HG02809.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.164-6136C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50063743 | ||||||
| chrX:50063825
|
G | T | 1 | a0001c0001t0001g0095 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.164-6054G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50063825 | ||||||
| chrX:50064008
|
G | T | 6 | a0001c0001t0001g0123a0001c0001t0010g0158a0001c0001t0010g0159others(3): Show | 6 | HG01884.hp1 HG02486.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.164-5871G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50064008 | ||||||
| chrX:50064122
|
C | T | 2 | a0001c0001t0001g0144a0001c0001t0001g0148 | 2 | NA18959.hp1 NA18988.hp1 |
intron_variant | MODIFIER | c.164-5757C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50064122 | ||||||
| chrX:50064155
|
G | A | 27 | a0001c0001t0001g0123a0001c0001t0004g0163a0001c0001t0004g0169others(24): Show | 27 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.164-5724G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50064155 | ||||||
| chrX:50064254
|
T | G | 10 | a0001c0001t0001g0031a0001c0001t0001g0056a0001c0001t0001g0123others(7): Show | 10 | HG00738.hp1 HG02280.hp1 HG02809.hp2 others(7): Show |
intron_variant | MODIFIER | c.164-5625T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50064254 | ||||||
| chrX:50064256
|
A | G | 1 | a0001c0001t0004g0163 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.164-5623A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50064256 | ||||||
| chrX:50064263
|
G | A | 3 | a0001c0001t0001g0056a0001c0001t0001g0127a0001c0003t0003g0166 | 3 | HG02486.hp1 HG02615.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.164-5616G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50064263 | ||||||
| chrX:50064265
|
C | T | 2 | a0001c0001t0001g0056a0001c0001t0001g0127 | 2 | HG02615.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.164-5614C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50064265 | ||||||
| chrX:50064392
|
A | G | 1 | a0001c0001t0001g0087 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.164-5487A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50064392 | ||||||
| chrX:50064466
|
C | G | 1 | a0001c0001t0001g0140 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.164-5413C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50064466 | ||||||
| chrX:50064587
|
C | A | 5 | a0001c0002t0002g0006a0001c0002t0002g0007a0001c0002t0002g0008others(2): Show | 5 | HG02145.hp1 HG02615.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.164-5292C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50064587 | ||||||
| chrX:50064611
|
A | G | 2 | a0001c0003t0003g0018a0001c0003t0003g0168 | 2 | HG02280.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.164-5268A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50064611 | ||||||
| chrX:50064650
|
G | GA | 1 | a0001c0001t0001g0095 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.164-5223dupA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50064650 | |||||
| chrX:50064892
|
C | G | 27 | a0001c0001t0001g0123a0001c0001t0004g0163a0001c0001t0004g0169others(24): Show | 27 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.164-4987C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50064892 | ||||||
| chrX:50064902
|
C | G | 6 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0001t0001g0125others(3): Show | 6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.164-4977C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50064902 | ||||||
| chrX:50065133
|
A | G | 1 | a0001c0001t0001g0074 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.164-4746A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50065133 | ||||||
| chrX:50065146
|
C | A | 1 | a0001c0002t0002g0014 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.164-4733C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50065146 | ||||||
| chrX:50065174
|
A | G | 3 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0007t0001g0028 | 3 | HG02451.hp2 HG02970.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.164-4705A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50065174 | ||||||
| chrX:50065187
|
T | C | 10 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0031others(7): Show | 10 | HG01192.hp1 HG01258.hp1 HG01928.hp1 others(7): Show |
intron_variant | MODIFIER | c.164-4692T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50065187 | ||||||
| chrX:50065332
|
C | A | 27 | a0001c0001t0001g0123a0001c0001t0004g0163a0001c0001t0004g0169others(24): Show | 27 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.164-4547C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50065332 | ||||||
| chrX:50065408
|
G | A | 32 | a0001c0001t0001g0123a0001c0001t0004g0163a0001c0001t0004g0169others(29): Show | 32 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(29): Show |
intron_variant | MODIFIER | c.164-4471G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50065408 | ||||||
| chrX:50065465
|
T | C | 1 | a0001c0001t0021g0088 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.164-4414T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50065465 | ||||||
| chrX:50065495
|
G | T | 2 | a0001c0001t0006g0134a0001c0001t0006g0135 | 2 | NA19009.hp1 NA19066.hp1 |
intron_variant | MODIFIER | c.164-4384G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50065495 | ||||||
| chrX:50065568
|
T | C | 5 | a0001c0001t0001g0106a0001c0001t0001g0107a0001c0001t0001g0112others(2): Show | 5 | NA18974.hp1 NA19006.hp1 NA19072.hp1 others(2): Show |
intron_variant | MODIFIER | c.164-4311T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50065568 | ||||||
| chrX:50065698
|
A | C | 1 | a0001c0001t0001g0044 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.164-4181A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50065698 | ||||||
| chrX:50065726
|
G | A | 1 | a0001c0001t0022g0115 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.164-4153G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50065726 | ||||||
| chrX:50065757
|
C | A | 1 | a0001c0001t0004g0163 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.164-4122C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50065757 | ||||||
| chrX:50065840
|
T | G | 2 | a0001c0001t0004g0163a0002c0005t0020g0001 | 2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.164-4039T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50065840 | ||||||
| chrX:50065910
|
C | G | 1 | a0001c0002t0002g0004 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.164-3969C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50065910 | ||||||
| chrX:50065929
|
G | A | 1 | a0001c0001t0004g0163 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.164-3950G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50065929 | ||||||
| chrX:50065967
|
T | A | 14 | a0001c0002t0002g0004a0001c0002t0002g0006a0001c0002t0002g0007others(11): Show | 14 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(11): Show |
intron_variant | MODIFIER | c.164-3912T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50065967 | ||||||
| chrX:50066017
|
A | AG | 5 | a0001c0001t0001g0026a0001c0001t0001g0101a0001c0001t0001g0102others(2): Show | 5 | HG02055.hp1 HG02074.hp1 HG04115.hp1 others(2): Show |
intron_variant | MODIFIER | c.164-3856dupG | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50066017 | |||||
| chrX:50066163
|
T | TA | 12 | a0001c0001t0001g0038a0001c0001t0001g0056a0001c0001t0001g0074others(9): Show | 12 | HG00741.hp1 HG02622.hp1 HG03041.hp1 others(9): Show |
intron_variant | MODIFIER | c.164-3700dupA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50066163 | |||||
| chrX:50066163
|
TA | T | 31 | a0001c0001t0001g0023a0001c0001t0001g0024a0001c0001t0001g0025others(28): Show | 31 | HG00738.hp1 HG01069.hp1 HG01081.hp1 others(28): Show |
intron_variant | MODIFIER | c.164-3700delA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50066163 | |||||
| chrX:50066175
|
AAAAAG | A | 1 | a0001c0001t0027g0132 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.164-3700_164-3696d others(7): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50066175 | |||||
| chrX:50066176
|
AAAAG | A | 1 | a0002c0005t0020g0001 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.164-3693_164-3690d others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50066176 | |||||
| chrX:50066177
|
AAAG | A | 12 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0001t0001g0125others(9): Show | 12 | HG00741.hp2 HG01070.hp2 HG01081.hp2 others(9): Show |
intron_variant | MODIFIER | c.164-3699_164-3697d others(5): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50066177 | |||||
| chrX:50066202
|
C | CA | 5 | a0001c0001t0001g0019a0001c0001t0001g0106a0001c0001t0001g0107others(2): Show | 5 | NA18989.hp1 NA19006.hp1 NA19072.hp1 others(2): Show |
intron_variant | MODIFIER | c.164-3663dupA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50066202 | |||||
| chrX:50066202
|
C | CAAAAAAA others(5): Show |
10 | a0001c0002t0002g0004a0001c0002t0002g0006a0001c0002t0002g0007others(7): Show | 10 | HG02615.hp2 HG02622.hp2 HG02965.hp1 others(7): Show |
intron_variant | MODIFIER | c.164-3674_164-3663d others(14): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50066202 | |||||
| chrX:50066202
|
C | CAAAAAAA others(6): Show |
11 | a0001c0001t0004g0169a0001c0001t0027g0132a0001c0002t0002g0009others(8): Show | 11 | HG00738.hp1 HG01167.hp1 HG02145.hp1 others(8): Show |
intron_variant | MODIFIER | c.164-3675_164-3663d others(15): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50066202 | |||||
| chrX:50066202
|
C | CAAAAAAA others(7): Show |
5 | a0001c0001t0001g0123a0001c0001t0004g0163a0001c0002t0002g0013others(2): Show | 5 | HG01255.hp1 HG02630.hp2 HG02809.hp2 others(2): Show |
intron_variant | MODIFIER | c.164-3676_164-3663d others(16): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50066202 | |||||
| chrX:50066202
|
C | CAAAAAAA others(8): Show |
1 | a0001c0002t0009g0017 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.164-3663_164-3662i others(17): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50066202 | |||||
| chrX:50066368
|
A | C | 5 | a0001c0001t0001g0119a0001c0001t0001g0138a0001c0001t0001g0139others(2): Show | 5 | HG00642.hp1 HG01081.hp1 HG01106.hp1 others(2): Show |
intron_variant | MODIFIER | c.164-3511A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50066368 | ||||||
| chrX:50066455
|
T | C | 5 | a0001c0001t0001g0119a0001c0001t0001g0138a0001c0001t0001g0139others(2): Show | 5 | HG00642.hp1 HG01081.hp1 HG01106.hp1 others(2): Show |
intron_variant | MODIFIER | c.164-3424T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50066455 | ||||||
| chrX:50066733
|
AGGTTGG | A | 1 | a0001c0001t0001g0048 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.164-3145_164-3140d others(8): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50066733 | ||||||
| chrX:50066776
|
A | G | 96 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(93): Show | 96 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(93): Show |
intron_variant | MODIFIER | c.164-3103A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50066776 | ||||||
| chrX:50066886
|
A | G | 1 | a0001c0001t0004g0169 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.164-2993A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50066886 | ||||||
| chrX:50066922
|
T | TAAAG | 27 | a0001c0001t0001g0123a0001c0001t0004g0163a0001c0001t0004g0169others(24): Show | 27 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.164-2955_164-2954i others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50066922 | |||||
| chrX:50066933
|
CAT | C | 14 | a0001c0001t0001g0123a0001c0001t0004g0169a0001c0001t0005g0170others(11): Show | 14 | HG00738.hp1 HG01081.hp2 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.164-2945_164-2944d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50066933 | ||||||
| chrX:50067048
|
A | T | 1 | a0001c0001t0016g0043 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.164-2831A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50067048 | ||||||
| chrX:50067194
|
A | G | 27 | a0001c0001t0001g0123a0001c0001t0004g0163a0001c0001t0004g0169others(24): Show | 27 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.164-2685A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50067194 | ||||||
| chrX:50067217
|
G | T | 1 | a0001c0001t0001g0044 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.164-2662G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50067217 | ||||||
| chrX:50067582
|
A | G | 1 | a0001c0001t0001g0110 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.164-2297A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50067582 | ||||||
| chrX:50068144
|
A | C | 1 | a0001c0001t0001g0140 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.164-1735A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50068144 | ||||||
| chrX:50068159
|
T | TA | 1 | a0001c0001t0001g0048 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.164-1715dupA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50068159 | |||||
| chrX:50068489
|
C | G | 5 | a0001c0001t0010g0158a0001c0001t0010g0159a0001c0003t0003g0164others(2): Show | 5 | HG01884.hp1 HG02486.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.164-1390C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50068489 | ||||||
| chrX:50068754
|
A | C | 18 | a0001c0002t0002g0004a0001c0002t0002g0006a0001c0002t0002g0007others(15): Show | 18 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(15): Show |
intron_variant | MODIFIER | c.164-1125A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50068754 | ||||||
| chrX:50069575
|
ACCT | A | 1 | a0001c0001t0001g0021 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.164-300_164-298del others(3): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50069575 | |||||
| chrX:50069618
|
C | T | 1 | a0001c0001t0001g0119 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.164-261C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50069618 | ||||||
| chrX:50069627
|
C | G | 14 | a0001c0002t0002g0004a0001c0002t0002g0006a0001c0002t0002g0007others(11): Show | 14 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(11): Show |
intron_variant | MODIFIER | c.164-252C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50069627 | ||||||
| chrX:50070175
|
A | T | 1 | a0001c0001t0001g0119 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.315+145A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 5/14 | chrX | 50070175 | ||||||
| chrX:50070928
|
TC | T | 1 | a0001c0001t0001g0048 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.315+900delC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chrX | 50070928 | |||||
| chrX:50071178
|
G | A | 27 | a0001c0001t0001g0123a0001c0001t0004g0163a0001c0001t0004g0169others(24): Show | 27 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.315+1148G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 5/14 | chrX | 50071178 | ||||||
| chrX:50071284
|
G | GA | 1 | a0001c0001t0001g0048 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.316-1201dupA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chrX | 50071284 | |||||
| chrX:50071826
|
A | AG | 1 | a0001c0001t0001g0095 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.316-661dupG | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chrX | 50071826 | |||||
| chrX:50072022
|
C | G | 174 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(171): Show | 174 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(171): Show |
intron_variant | MODIFIER | c.316-467C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 5/14 | chrX | 50072022 | ||||||
| chrX:50072067
|
C | T | 17 | a0001c0002t0002g0004a0001c0002t0002g0006a0001c0002t0002g0007others(14): Show | 17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.316-422C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 5/14 | chrX | 50072067 | ||||||
| chrX:50072286
|
A | AT | 27 | a0001c0001t0001g0123a0001c0001t0004g0163a0001c0001t0004g0169others(24): Show | 27 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.316-201dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chrX | 50072286 | |||||
| chrX:50072719
|
T | C | 3 | a0001c0002t0004g0002a0001c0002t0004g0003a0001c0002t0004g0016 | 3 | HG02622.hp2 HG02965.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.415+131T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 6/14 | chrX | 50072719 | ||||||
| chrX:50072908
|
A | G | 2 | a0001c0001t0001g0038a0001c0001t0001g0091 | 2 | NA18971.hp1 NA19089.hp1 |
intron_variant | MODIFIER | c.415+320A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 6/14 | chrX | 50072908 | ||||||
| chrX:50072966
|
G | T | 4 | a0001c0001t0001g0032a0001c0001t0001g0036a0001c0001t0011g0035others(1): Show | 4 | HG01192.hp1 HG03688.hp1 HG04199.hp1 others(1): Show |
intron_variant | MODIFIER | c.415+378G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 6/14 | chrX | 50072966 | ||||||
| chrX:50073010
|
G | A | 17 | a0001c0002t0002g0004a0001c0002t0002g0006a0001c0002t0002g0007others(14): Show | 17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.415+422G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 6/14 | chrX | 50073010 | ||||||
| chrX:50073106
|
T | A | 170 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(167): Show | 170 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(167): Show |
intron_variant | MODIFIER | c.415+518T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 6/14 | chrX | 50073106 | ||||||
| chrX:50074260
|
T | C | 16 | a0001c0001t0001g0046a0001c0001t0001g0066a0001c0001t0001g0068others(13): Show | 16 | HG01261.hp1 HG02040.hp1 HG02071.hp1 others(13): Show |
intron_variant | MODIFIER | c.416-1535T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 6/14 | chrX | 50074260 | ||||||
| chrX:50074335
|
G | A | 17 | a0001c0002t0002g0004a0001c0002t0002g0006a0001c0002t0002g0007others(14): Show | 17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.416-1460G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 6/14 | chrX | 50074335 | ||||||
| chrX:50074537
|
T | C | 6 | a0001c0001t0005g0170a0001c0001t0005g0171a0001c0001t0005g0172others(3): Show | 6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.416-1258T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 6/14 | chrX | 50074537 | ||||||
| chrX:50074545
|
C | T | 1 | a0001c0002t0002g0128 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.416-1250C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 6/14 | chrX | 50074545 | ||||||
| chrX:50074810
|
A | G | 1 | a0001c0001t0004g0163 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.416-985A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 6/14 | chrX | 50074810 | ||||||
| chrX:50075250
|
C | A | 5 | a0001c0002t0002g0006a0001c0002t0002g0007a0001c0002t0002g0008others(2): Show | 5 | HG02145.hp1 HG02615.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.416-545C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 6/14 | chrX | 50075250 | ||||||
| chrX:50075250
|
C | G | 3 | a0001c0001t0006g0134a0001c0001t0006g0135a0001c0001t0013g0094 | 3 | HG02129.hp1 NA19009.hp1 NA19066.hp1 |
intron_variant | MODIFIER | c.416-545C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 6/14 | chrX | 50075250 | ||||||
| chrX:50075257
|
A | G | 170 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(167): Show | 170 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(167): Show |
intron_variant | MODIFIER | c.416-538A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 6/14 | chrX | 50075257 | ||||||
| chrX:50075643
|
A | G | 8 | a0001c0001t0005g0170a0001c0001t0005g0171a0001c0001t0005g0172others(5): Show | 8 | HG01081.hp2 HG02622.hp1 HG02723.hp2 others(5): Show |
intron_variant | MODIFIER | c.416-152A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 6/14 | chrX | 50075643 | ||||||
| chrX:50075789
|
A | T | 6 | a0001c0001t0005g0170a0001c0001t0005g0171a0001c0001t0005g0172others(3): Show | 6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
splice_region_variant&intron_variant | LOW | c.416-6A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 6/14 | chrX | 50075789 | ||||||
| chrX:50076030
|
T | G | 1 | a0001c0001t0001g0050 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.603+48T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50076030 | ||||||
| chrX:50076224
|
A | G | 27 | a0001c0001t0001g0123a0001c0001t0004g0163a0001c0001t0004g0169others(24): Show | 27 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.603+242A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50076224 | ||||||
| chrX:50076529
|
G | GT | 1 | a0001c0001t0007g0093 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.603+555dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50076529 | |||||
| chrX:50076687
|
C | G | 2 | a0001c0002t0009g0015a0001c0002t0009g0017 | 2 | HG02630.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.603+705C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50076687 | ||||||
| chrX:50076810
|
A | G | 6 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0001t0001g0125others(3): Show | 6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.603+828A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50076810 | ||||||
| chrX:50076814
|
A | G | 1 | a0001c0003t0003g0175 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.603+832A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50076814 | ||||||
| chrX:50076821
|
A | G | 17 | a0001c0002t0002g0004a0001c0002t0002g0006a0001c0002t0002g0007others(14): Show | 17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.603+839A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50076821 | ||||||
| chrX:50077156
|
A | C | 3 | a0001c0002t0004g0002a0001c0002t0004g0003a0001c0002t0004g0016 | 3 | HG02622.hp2 HG02965.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.603+1174A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50077156 | ||||||
| chrX:50077172
|
A | G | 2 | a0001c0001t0001g0059a0001c0001t0001g0067 | 2 | HG01069.hp1 HG01070.hp1 |
intron_variant | MODIFIER | c.603+1190A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50077172 | ||||||
| chrX:50077212
|
A | G | 1 | a0001c0001t0001g0167 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.603+1230A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50077212 | ||||||
| chrX:50077461
|
GA | G | 1 | a0001c0001t0001g0021 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.603+1490delA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077461 | |||||
| chrX:50077474
|
C | T | 3 | a0001c0002t0004g0002a0001c0002t0004g0003a0001c0002t0004g0016 | 3 | HG02622.hp2 HG02965.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.603+1492C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50077474 | ||||||
| chrX:50077580
|
TAGGG | T | 5 | a0001c0001t0001g0114a0001c0001t0001g0116a0001c0001t0017g0113others(2): Show | 5 | HG02071.hp1 NA18943.hp1 NA18990.hp1 others(2): Show |
intron_variant | MODIFIER | c.603+1599_603+1602d others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50077580 | ||||||
| chrX:50077594
|
A | AAG | 3 | a0001c0001t0001g0076a0001c0001t0001g0087a0001c0001t0001g0097 | 3 | HG02572.hp1 HG03579.hp1 NA18612.hp1 |
intron_variant | MODIFIER | c.603+1639_603+1640d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077594 | |||||
| chrX:50077594
|
A | AGAG | 1 | a0001c0001t0012g0142 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.603+1612_603+1613i others(5): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50077594 | ||||||
| chrX:50077594
|
AAG | A | 2 | a0001c0001t0001g0160a0001c0004t0001g0051 | 2 | HG02027.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.603+1639_603+1640d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077594 | |||||
| chrX:50077594
|
AAGAG | A | 8 | a0001c0001t0001g0118a0001c0001t0001g0152a0001c0001t0027g0132others(5): Show | 8 | HG01167.hp1 HG02630.hp2 HG02970.hp2 others(5): Show |
intron_variant | MODIFIER | c.603+1637_603+1640d others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077594 | |||||
| chrX:50077594
|
AAGAGAG | A | 6 | a0001c0002t0002g0011a0001c0002t0002g0128a0001c0002t0004g0003others(3): Show | 6 | HG02280.hp1 HG02622.hp2 HG02809.hp1 others(3): Show |
intron_variant | MODIFIER | c.603+1635_603+1640d others(8): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077594 | |||||
| chrX:50077594
|
AAGAGAGA others(1): Show |
A | 6 | a0001c0001t0001g0123a0001c0001t0004g0169a0001c0002t0004g0002others(3): Show | 6 | HG00738.hp1 HG02809.hp2 HG03195.hp2 others(3): Show |
intron_variant | MODIFIER | c.603+1633_603+1640d others(10): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077594 | |||||
| chrX:50077594
|
AAGAGAGA others(3): Show |
A | 2 | a0001c0001t0004g0163a0002c0005t0020g0001 | 2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.603+1631_603+1640d others(12): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077594 | |||||
| chrX:50077613
|
A | AGT | 1 | a0001c0002t0002g0012 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.603+1632_603+1633i others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077613 | |||||
| chrX:50077613
|
A | T | 2 | a0001c0002t0002g0004a0001c0009t0003g0005 | 2 | HG03453.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.603+1631A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50077613 | ||||||
| chrX:50077615
|
A | T | 7 | a0001c0002t0002g0004a0001c0002t0002g0006a0001c0002t0002g0007others(4): Show | 7 | HG02145.hp1 HG02615.hp2 HG02976.hp1 others(4): Show |
intron_variant | MODIFIER | c.603+1633A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50077615 | ||||||
| chrX:50077617
|
A | T | 13 | a0001c0001t0027g0132a0001c0002t0002g0004a0001c0002t0002g0006others(10): Show | 13 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(10): Show |
intron_variant | MODIFIER | c.603+1635A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50077617 | ||||||
| chrX:50077619
|
A | AGTGT | 1 | a0001c0001t0001g0033 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.603+1638_603+1639i others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077619 | |||||
| chrX:50077619
|
A | T | 19 | a0001c0001t0027g0132a0001c0002t0002g0004a0001c0002t0002g0006others(16): Show | 19 | HG01167.hp1 HG02145.hp1 HG02280.hp1 others(16): Show |
intron_variant | MODIFIER | c.603+1637A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50077619 | ||||||
| chrX:50077621
|
A | AGAGTGT | 1 | a0001c0001t0016g0043 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.603+1640_603+1641i others(8): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077621 | |||||
| chrX:50077621
|
A | AGT | 22 | a0001c0001t0001g0032a0001c0001t0001g0036a0001c0001t0001g0042others(19): Show | 22 | HG00621.hp1 HG00642.hp1 HG00741.hp1 others(19): Show |
intron_variant | MODIFIER | c.603+1672_603+1673d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077621 | |||||
| chrX:50077621
|
A | AGTGT | 2 | a0001c0001t0011g0037a0001c0004t0001g0055 | 2 | HG01192.hp1 HG02258.hp1 |
intron_variant | MODIFIER | c.603+1670_603+1673d others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077621 | |||||
| chrX:50077621
|
A | AGTGTGT | 1 | a0001c0001t0001g0026 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.603+1668_603+1673d others(8): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077621 | |||||
| chrX:50077621
|
A | T | 33 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0031others(30): Show | 33 | HG00280.hp1 HG00738.hp1 HG01167.hp1 others(30): Show |
intron_variant | MODIFIER | c.603+1639A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50077621 | ||||||
| chrX:50077621
|
AGT | A | 8 | a0001c0001t0001g0154a0001c0001t0005g0170a0001c0001t0005g0171others(5): Show | 8 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(5): Show |
intron_variant | MODIFIER | c.603+1672_603+1673d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077621 | |||||
| chrX:50077621
|
AGTGT | A | 5 | a0001c0001t0010g0158a0001c0001t0010g0159a0001c0003t0003g0164others(2): Show | 5 | HG01884.hp1 HG02486.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.603+1670_603+1673d others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077621 | |||||
| chrX:50077621
|
AGTGTGT | A | 2 | a0001c0001t0001g0061a0001c0001t0001g0079 | 2 | HG01515.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.603+1668_603+1673d others(8): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077621 | |||||
| chrX:50077623
|
T | A | 8 | a0001c0001t0001g0027a0001c0001t0001g0074a0001c0001t0001g0124others(5): Show | 8 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(5): Show |
intron_variant | MODIFIER | c.603+1641T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50077623 | ||||||
| chrX:50077625
|
T | A | 6 | a0001c0001t0005g0170a0001c0001t0005g0171a0001c0001t0005g0172others(3): Show | 6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.603+1643T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50077625 | ||||||
| chrX:50077627
|
T | A | 11 | a0001c0001t0005g0170a0001c0001t0005g0171a0001c0001t0005g0172others(8): Show | 11 | HG01081.hp2 HG01884.hp1 HG02486.hp1 others(8): Show |
intron_variant | MODIFIER | c.603+1645T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50077627 | ||||||
| chrX:50077629
|
T | A | 3 | a0001c0003t0003g0164a0001c0003t0003g0165a0001c0003t0003g0166 | 3 | HG01884.hp1 HG02486.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.603+1647T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50077629 | ||||||
| chrX:50077687
|
T | C | 3 | a0001c0001t0001g0118a0001c0001t0001g0121a0001c0001t0018g0122 | 3 | HG01358.hp1 HG02698.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.603+1705T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50077687 | ||||||
| chrX:50077812
|
C | CA | 21 | a0001c0001t0001g0022a0001c0001t0001g0046a0001c0001t0001g0066others(18): Show | 21 | HG01069.hp1 HG01109.hp1 HG01192.hp1 others(18): Show |
intron_variant | MODIFIER | c.603+1867dupA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077812 | |||||
| chrX:50077812
|
C | CAA | 12 | a0001c0001t0001g0019a0001c0001t0001g0040a0001c0001t0001g0059others(9): Show | 12 | HG00609.hp1 HG00621.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.603+1866_603+1867d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077812 | |||||
| chrX:50077812
|
C | CAAA | 5 | a0001c0001t0001g0042a0001c0001t0001g0110a0001c0001t0001g0111others(2): Show | 5 | HG02486.hp1 HG03486.hp1 NA18944.hp1 others(2): Show |
intron_variant | MODIFIER | c.603+1865_603+1867d others(5): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077812 | |||||
| chrX:50077812
|
CA | C | 37 | a0001c0001t0001g0025a0001c0001t0001g0029a0001c0001t0001g0030others(34): Show | 37 | HG00140.hp1 HG01074.hp1 HG01243.hp1 others(34): Show |
intron_variant | MODIFIER | c.603+1867delA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077812 | |||||
| chrX:50077812
|
CAA | C | 12 | a0001c0001t0001g0023a0001c0001t0001g0026a0001c0001t0001g0031others(9): Show | 12 | HG01943.hp1 HG02055.hp1 HG02280.hp2 others(9): Show |
intron_variant | MODIFIER | c.603+1866_603+1867d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077812 | |||||
| chrX:50077812
|
CAAA | C | 9 | a0001c0002t0002g0009a0001c0002t0002g0011a0001c0002t0002g0012others(6): Show | 9 | HG01167.hp1 HG02145.hp1 HG02965.hp1 others(6): Show |
intron_variant | MODIFIER | c.603+1865_603+1867d others(5): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077812 | |||||
| chrX:50077812
|
CAAAA | C | 6 | a0001c0001t0001g0125a0001c0001t0001g0126a0001c0002t0002g0006others(3): Show | 6 | HG00741.hp2 HG01070.hp2 HG02615.hp2 others(3): Show |
intron_variant | MODIFIER | c.603+1864_603+1867d others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077812 | |||||
| chrX:50077812
|
CAAAAA | C | 1 | a0001c0001t0001g0127 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.603+1863_603+1867d others(7): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077812 | |||||
| chrX:50077812
|
CAAAAAA | C | 6 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0001t0005g0170others(3): Show | 6 | HG01081.hp2 HG02451.hp2 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.603+1862_603+1867d others(8): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077812 | |||||
| chrX:50077812
|
CAAAAAAA | C | 10 | a0001c0001t0001g0123a0001c0001t0004g0163a0001c0001t0005g0171others(7): Show | 10 | HG00738.hp1 HG01255.hp1 HG02280.hp1 others(7): Show |
intron_variant | MODIFIER | c.603+1861_603+1867d others(9): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077812 | |||||
| chrX:50077812
|
CAAAAAAA others(1): Show |
C | 3 | a0001c0001t0004g0169a0001c0003t0003g0018a0001c0003t0003g0162 | 3 | HG02922.hp2 HG03195.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.603+1860_603+1867d others(10): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077812 | |||||
| chrX:50077812
|
CAAAAAAA others(2): Show |
C | 2 | a0001c0001t0001g0154a0001c0001t0001g0155 | 2 | NA18948.hp1 NA18970.hp1 |
intron_variant | MODIFIER | c.603+1859_603+1867d others(11): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077812 | |||||
| chrX:50077812
|
CAAAAAAA others(5): Show |
C | 3 | a0001c0001t0001g0105a0001c0001t0001g0106a0001c0001t0010g0158 | 3 | HG02300.hp1 HG02622.hp1 NA19083.hp1 |
intron_variant | MODIFIER | c.603+1856_603+1867d others(14): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077812 | |||||
| chrX:50077812
|
CAAAAAAA others(6): Show |
C | 5 | a0001c0001t0001g0107a0001c0001t0001g0108a0001c0001t0001g0112others(2): Show | 5 | NA18974.hp1 NA19006.hp1 NA19070.hp1 others(2): Show |
intron_variant | MODIFIER | c.603+1855_603+1867d others(15): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077812 | |||||
| chrX:50077812
|
CAAAAAAA others(10): Show |
C | 1 | a0001c0001t0007g0120 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.603+1851_603+1867d others(19): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077812 | |||||
| chrX:50077812
|
CAAAAAAA others(11): Show |
C | 4 | a0001c0001t0001g0076a0001c0001t0001g0119a0001c0001t0001g0138others(1): Show | 4 | HG00642.hp1 HG01081.hp1 HG01106.hp1 others(1): Show |
intron_variant | MODIFIER | c.603+1850_603+1867d others(20): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077812 | |||||
| chrX:50077835
|
A | C | 1 | a0001c0001t0001g0157 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.603+1853A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50077835 | ||||||
| chrX:50077838
|
A | C | 1 | a0001c0001t0001g0130 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.603+1856A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50077838 | ||||||
| chrX:50077849
|
A | AC | 1 | a0001c0001t0001g0075 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.603+1868dupC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077849 | |||||
| chrX:50077890
|
T | G | 1 | a0001c0001t0001g0044 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.603+1908T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50077890 | ||||||
| chrX:50077977
|
G | A | 1 | a0002c0005t0020g0001 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.603+1995G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50077977 | ||||||
| chrX:50078027
|
C | CA | 2 | a0001c0001t0001g0084a0001c0001t0007g0093 | 2 | HG01109.hp1 NA18994.hp1 |
intron_variant | MODIFIER | c.603+2060dupA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50078027 | |||||
| chrX:50078168
|
C | A | 4 | a0001c0001t0001g0123a0001c0003t0003g0018a0001c0003t0003g0168others(1): Show | 4 | HG00738.hp1 HG02280.hp1 HG02809.hp2 others(1): Show |
intron_variant | MODIFIER | c.603+2186C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50078168 | ||||||
| chrX:50078330
|
T | TCA | 2 | a0001c0001t0001g0038a0001c0001t0001g0091 | 2 | NA18971.hp1 NA19089.hp1 |
intron_variant | MODIFIER | c.604-2247_604-2246d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50078330 | |||||
| chrX:50078334
|
A | G | 1 | a0001c0009t0003g0005 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.604-2260A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50078334 | ||||||
| chrX:50078565
|
C | T | 6 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0001t0001g0125others(3): Show | 6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.604-2029C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50078565 | ||||||
| chrX:50078825
|
T | G | 8 | a0001c0001t0001g0123a0001c0001t0004g0169a0001c0001t0027g0132others(5): Show | 8 | HG00738.hp1 HG02280.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.604-1769T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50078825 | ||||||
| chrX:50078830
|
G | T | 8 | a0001c0001t0001g0123a0001c0001t0004g0169a0001c0001t0027g0132others(5): Show | 8 | HG00738.hp1 HG02280.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.604-1764G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50078830 | ||||||
| chrX:50078846
|
G | A | 2 | a0001c0001t0001g0021a0001c0001t0001g0022 | 2 | NA18962.hp1 NA19086.hp1 |
intron_variant | MODIFIER | c.604-1748G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50078846 | ||||||
| chrX:50078907
|
C | G | 27 | a0001c0001t0001g0123a0001c0001t0004g0163a0001c0001t0004g0169others(24): Show | 27 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.604-1687C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50078907 | ||||||
| chrX:50079000
|
T | G | 2 | a0001c0003t0003g0164a0001c0003t0003g0166 | 2 | HG01884.hp1 HG02486.hp1 |
intron_variant | MODIFIER | c.604-1594T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50079000 | ||||||
| chrX:50079686
|
C | T | 6 | a0001c0001t0001g0027a0001c0001t0001g0124a0001c0001t0001g0125others(3): Show | 6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.604-908C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50079686 | ||||||
| chrX:50079733
|
A | T | 1 | a0001c0001t0001g0041 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.604-861A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50079733 | ||||||
| chrX:50079793
|
G | A | 2 | a0001c0001t0004g0163a0002c0005t0020g0001 | 2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.604-801G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50079793 | ||||||
| chrX:50079897
|
C | G | 4 | a0001c0001t0001g0081a0001c0001t0001g0117a0001c0001t0008g0082others(1): Show | 4 | HG01099.hp1 HG01433.hp1 HG01952.hp1 others(1): Show |
intron_variant | MODIFIER | c.604-697C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50079897 | ||||||
| chrX:50079964
|
G | A | 7 | a0001c0001t0001g0023a0001c0001t0001g0027a0001c0001t0001g0124others(4): Show | 7 | HG00741.hp2 HG01070.hp2 HG02280.hp2 others(4): Show |
intron_variant | MODIFIER | c.604-630G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50079964 | ||||||
| chrX:50080065
|
T | A | 1 | a0001c0006t0002g0133 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.604-529T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50080065 | ||||||
| chrX:50080131
|
A | G | 5 | a0001c0001t0001g0046a0001c0001t0001g0066a0001c0001t0001g0068others(2): Show | 5 | NA18960.hp1 NA19007.hp1 NA19063.hp1 others(2): Show |
intron_variant | MODIFIER | c.604-463A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50080131 | ||||||
| chrX:50080209
|
C | T | 1 | a0001c0001t0010g0158 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.604-385C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50080209 | ||||||
| chrX:50080224
|
T | TG | 1 | a0001c0001t0001g0054 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.604-363dupG | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50080224 | |||||
| chrX:50080484
|
G | GT | 4 | a0001c0001t0001g0047a0001c0001t0001g0050a0001c0001t0001g0053others(1): Show | 4 | HG02886.hp1 HG03041.hp2 NA18952.hp1 others(1): Show |
intron_variant | MODIFIER | c.604-96dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50080484 | |||||
| chrX:50080502
|
CT | C | 10 | a0001c0001t0004g0169a0001c0003t0003g0018a0001c0003t0003g0161others(7): Show | 10 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(7): Show |
intron_variant | MODIFIER | c.604-85delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50080502 | |||||
| chrX:50080900
|
G | C | 1 | a0001c0001t0027g0132 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.726+184G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 8/14 | chrX | 50080900 | ||||||
| chrX:50080905
|
T | C | 2 | a0001c0001t0004g0163a0001c0001t0004g0169 | 2 | HG03209.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.726+189T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 8/14 | chrX | 50080905 | ||||||
| chrX:50080973
|
A | G | 1 | a0001c0001t0001g0105 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.726+257A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 8/14 | chrX | 50080973 | ||||||
| chrX:50081063
|
T | C | 30 | a0001c0001t0004g0163a0001c0001t0004g0169a0001c0001t0027g0132others(27): Show | 30 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(27): Show |
intron_variant | MODIFIER | c.726+347T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 8/14 | chrX | 50081063 | ||||||
| chrX:50081100
|
G | GT | 1 | a0001c0001t0001g0069 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.726+386dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chrX | 50081100 | |||||
| chrX:50081222
|
A | AT | 3 | a0001c0001t0001g0052a0001c0001t0001g0061a0001c0001t0001g0062 | 3 | HG00140.hp1 HG01515.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.727-405dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chrX | 50081222 | |||||
| chrX:50081222
|
AT | A | 6 | a0001c0001t0001g0065a0001c0001t0001g0067a0001c0001t0001g0136others(3): Show | 6 | HG01069.hp1 HG01081.hp1 HG03195.hp2 others(3): Show |
intron_variant | MODIFIER | c.727-405delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chrX | 50081222 | |||||
| chrX:50082185
|
A | G | 1 | a0001c0001t0022g0115 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.933+338A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 9/14 | chrX | 50082185 | ||||||
| chrX:50082316
|
C | CT | 1 | a0001c0001t0026g0143 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.933+483dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chrX | 50082316 | |||||
| chrX:50082381
|
C | T | 1 | a0001c0002t0002g0013 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.933+534C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 9/14 | chrX | 50082381 | ||||||
| chrX:50082518
|
G | T | 27 | a0001c0001t0004g0163a0001c0001t0004g0169a0001c0002t0002g0004others(24): Show | 27 | HG00738.hp1 HG01167.hp1 HG01884.hp1 others(24): Show |
intron_variant | MODIFIER | c.933+671G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 9/14 | chrX | 50082518 | ||||||
| chrX:50082559
|
T | TC | 1 | a0003c0008t0019g0039 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.933+715dupC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chrX | 50082559 | |||||
| chrX:50083192
|
C | CA | 25 | a0001c0001t0004g0163a0001c0001t0004g0169a0001c0002t0002g0004others(22): Show | 25 | HG00738.hp1 HG01167.hp1 HG01884.hp1 others(22): Show |
intron_variant | MODIFIER | c.933+1361dupA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chrX | 50083192 | |||||
| chrX:50083192
|
C | CAA | 3 | a0001c0002t0004g0002a0001c0002t0004g0003a0001c0002t0004g0016 | 3 | HG02622.hp2 HG02965.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.933+1360_933+1361d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chrX | 50083192 | |||||
| chrX:50083192
|
CA | C | 4 | a0001c0001t0001g0040a0001c0001t0001g0044a0001c0001t0001g0069others(1): Show | 4 | HG02451.hp1 NA19062.hp1 NA19063.hp1 others(1): Show |
intron_variant | MODIFIER | c.933+1361delA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chrX | 50083192 | |||||
| chrX:50083548
|
A | G | 1 | a0001c0004t0001g0051 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.933+1701A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 9/14 | chrX | 50083548 | ||||||
| chrX:50083636
|
T | C | 2 | a0001c0003t0003g0018a0001c0003t0003g0168 | 2 | HG02280.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.933+1789T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 9/14 | chrX | 50083636 | ||||||
| chrX:50083663
|
A | G | 2 | a0001c0001t0010g0158a0001c0001t0010g0159 | 2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.933+1816A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 9/14 | chrX | 50083663 | ||||||
| chrX:50083761
|
G | A | 28 | a0001c0001t0004g0163a0001c0001t0004g0169a0001c0002t0002g0004others(25): Show | 28 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(25): Show |
intron_variant | MODIFIER | c.933+1914G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 9/14 | chrX | 50083761 | ||||||
| chrX:50083812
|
TA | T | 1 | a0001c0001t0001g0046 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.933+1972delA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chrX | 50083812 | |||||
| chrX:50083813
|
A | T | 1 | a0001c0001t0001g0062 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.933+1966A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 9/14 | chrX | 50083813 | ||||||
| chrX:50083924
|
A | AT | 1 | a0001c0001t0001g0154 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.934-2051dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chrX | 50083924 | |||||
| chrX:50083943
|
C | A | 27 | a0001c0001t0004g0163a0001c0001t0004g0169a0001c0002t0002g0004others(24): Show | 27 | HG00738.hp1 HG01167.hp1 HG01884.hp1 others(24): Show |
intron_variant | MODIFIER | c.934-2037C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 9/14 | chrX | 50083943 | ||||||
| chrX:50084045
|
G | A | 2 | a0001c0001t0010g0158a0001c0001t0010g0159 | 2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.934-1935G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 9/14 | chrX | 50084045 | ||||||
| chrX:50084275
|
AAATAT | A | 2 | a0001c0001t0010g0158a0001c0001t0010g0159 | 2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.934-1696_934-1692d others(7): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chrX | 50084275 | |||||
| chrX:50084365
|
TG | T | 1 | a0001c0001t0001g0154 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.934-1613delG | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chrX | 50084365 | |||||
| chrX:50084487
|
T | C | 14 | a0001c0001t0001g0023a0001c0001t0001g0027a0001c0001t0001g0124others(11): Show | 14 | HG00741.hp2 HG01070.hp2 HG01081.hp2 others(11): Show |
intron_variant | MODIFIER | c.934-1493T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 9/14 | chrX | 50084487 | ||||||
| chrX:50084968
|
C | T | 2 | a0001c0001t0004g0163a0001c0001t0004g0169 | 2 | HG03209.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.934-1012C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 9/14 | chrX | 50084968 | ||||||
| chrX:50084978
|
T | C | 1 | a0001c0001t0001g0054 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.934-1002T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 9/14 | chrX | 50084978 | ||||||
| chrX:50085296
|
G | A | 5 | a0001c0001t0005g0170a0001c0001t0005g0171a0001c0001t0005g0172others(2): Show | 5 | HG01081.hp2 HG02976.hp2 HG06807.hp2 others(2): Show |
intron_variant | MODIFIER | c.934-684G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 9/14 | chrX | 50085296 | ||||||
| chrX:50085479
|
G | T | 1 | a0001c0001t0001g0041 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.934-501G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 9/14 | chrX | 50085479 | ||||||
| chrX:50085717
|
C | CG | 1 | a0001c0001t0001g0040 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.934-256dupG | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chrX | 50085717 | |||||
| chrX:50086157
|
G | A | 1 | a0002c0005t0020g0001 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.1014+97G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 10/14 | chrX | 50086157 | ||||||
| chrX:50086947
|
A | G | 5 | a0001c0001t0005g0170a0001c0001t0005g0171a0001c0001t0005g0172others(2): Show | 5 | HG01081.hp2 HG02976.hp2 HG06807.hp2 others(2): Show |
intron_variant | MODIFIER | c.1557+77A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 11/14 | chrX | 50086947 | ||||||
| chrX:50087346
|
AAT | A | 2 | a0001c0001t0001g0061a0001c0001t0001g0062 | 2 | HG00140.hp1 HG01515.hp1 |
intron_variant | MODIFIER | c.1557+482_1557+483d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chrX | 50087346 | |||||
| chrX:50087350
|
T | A | 2 | a0001c0001t0001g0061a0001c0001t0001g0062 | 2 | HG00140.hp1 HG01515.hp1 |
intron_variant | MODIFIER | c.1557+480T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 11/14 | chrX | 50087350 | ||||||
| chrX:50087351
|
A | C | 2 | a0001c0001t0001g0061a0001c0001t0001g0062 | 2 | HG00140.hp1 HG01515.hp1 |
intron_variant | MODIFIER | c.1557+481A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 11/14 | chrX | 50087351 | ||||||
| chrX:50087705
|
C | T | 1 | a0001c0001t0001g0020 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.1557+835C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 11/14 | chrX | 50087705 | ||||||
| chrX:50088169
|
T | C | 1 | a0001c0001t0005g0172 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.1558-529T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 11/14 | chrX | 50088169 | ||||||
| chrX:50088684
|
G | C | 44 | a0001c0001t0001g0023a0001c0001t0001g0027a0001c0001t0001g0124others(41): Show | 44 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(41): Show |
intron_variant | MODIFIER | c.1558-14G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 11/14 | chrX | 50088684 | ||||||
| chrX:50089055
|
AAAAAAT | A | 1 | a0001c0002t0024g0010 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.1744+184_1744+189d others(8): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chrX | 50089055 | |||||
| chrX:50089099
|
A | ACT | 30 | a0001c0001t0004g0163a0001c0001t0004g0169a0001c0001t0027g0132others(27): Show | 30 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(27): Show |
intron_variant | MODIFIER | c.1744+219_1744+220d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chrX | 50089099 | |||||
| chrX:50089957
|
G | A | 2 | a0001c0003t0003g0161a0001c0003t0003g0162 | 2 | HG03195.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1745-159G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 12/14 | chrX | 50089957 | ||||||
| chrX:50090610
|
G | A | 7 | a0001c0001t0001g0023a0001c0001t0001g0027a0001c0001t0001g0124others(4): Show | 7 | HG00741.hp2 HG01070.hp2 HG02280.hp2 others(4): Show |
intron_variant | MODIFIER | c.2144-60G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 13/14 | chrX | 50090610 | ||||||
| chrX:50090942
|
TAGAA | T | 14 | a0001c0001t0001g0023a0001c0001t0001g0027a0001c0001t0001g0124others(11): Show | 14 | HG00741.hp2 HG01070.hp2 HG01081.hp2 others(11): Show |
intron_variant | MODIFIER | c.2360+61_2360+64del others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chrX | 50090942 | |||||
| chrX:50091190
|
T | C | 1 | a0001c0001t0013g0094 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.2360+304T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 14/14 | chrX | 50091190 | ||||||
| chrX:50091204
|
A | T | 2 | a0001c0001t0004g0163a0001c0001t0004g0169 | 2 | HG03209.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.2360+318A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 14/14 | chrX | 50091204 | ||||||
| chrX:50091295
|
T | C | 30 | a0001c0001t0004g0163a0001c0001t0004g0169a0001c0001t0027g0132others(27): Show | 30 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(27): Show |
intron_variant | MODIFIER | c.2360+409T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 14/14 | chrX | 50091295 | ||||||
| chrX:50091508
|
T | C | 5 | a0001c0001t0005g0170a0001c0001t0005g0171a0001c0001t0005g0172others(2): Show | 5 | HG01081.hp2 HG02976.hp2 HG06807.hp2 others(2): Show |
intron_variant | MODIFIER | c.2361-621T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 14/14 | chrX | 50091508 | ||||||
| chrX:50091903
|
G | A | 2 | a0001c0001t0010g0158a0001c0001t0010g0159 | 2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.2361-226G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 14/14 | chrX | 50091903 | ||||||
| chrX:50091975
|
G | C | 11 | a0001c0001t0001g0050a0001c0001t0001g0054a0001c0001t0001g0056others(8): Show | 11 | HG01099.hp1 HG01243.hp1 HG01433.hp1 others(8): Show |
intron_variant | MODIFIER | c.2361-154G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 14/14 | chrX | 50091975 | ||||||
| chrX:50092062
|
C | T | 1 | a0001c0001t0007g0093 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.2361-67C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 14/14 | chrX | 50092062 | ||||||
| chrX:50092087
|
A | G | 2 | a0001c0003t0003g0018a0001c0003t0003g0168 | 2 | HG02280.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.2361-42A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 14/14 | chrX | 50092087 |