Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| geneid | 541466 |
|---|---|
| ensemblid | ENSG00000268940.6 |
| hgncid | 33267 |
| symbol | CT45A1 |
| name | cancer/testis antigen family 45 member A1 |
| refseq_nuc | NM_001017417.3 |
| refseq_prot | NP_001017417.1 |
| ensembl_nuc | ENST00000594565.6 |
| ensembl_prot | ENSP00000472303.1 |
| mane_status | MANE Select |
| chr | chrX |
| start | 135713639 |
| end | 135723228 |
| strand | + |
| ver | v1.2 |
| region | chrX:135713639-135723228 |
| region5000 | chrX:135708639-135728228 |
| regionname0 | CT45A1_chrX_135713639_135723228 |
| regionname5000 | CT45A1_chrX_135708639_135728228 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/0 | 189 | 38 | 4 | 8 | 24 | 1 | 1 | 20 | CT45A1_chrX_135708639_135728228 | CT45A1 | copy fasta | chrX | 135708639 | 135728228 |
| a0002 | 1/0 | 189 | 16 | 6 | 1 | 7 | 0 | 1 | 4 | CT45A1_chrX_135708639_135728228 | CT45A1 | copy fasta | chrX | 135708639 | 135728228 |
| a0003 | 0/0 | 126 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | copy fasta | chrX | 135708639 | 135728228 |
| a0004 | 0/0 | 189 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CT45A1_chrX_135708639_135728228 | CT45A1 | copy fasta | chrX | 135708639 | 135728228 |
| a0005 | 0/0 | 22 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CT45A1_chrX_135708639_135728228 | CT45A1 | copy fasta | chrX | 135708639 | 135728228 |
| chapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 0/0 | 570 | 38 | 4 | 8 | 24 | 1 | 1 | CT45A1_chrX_135708639_135728228 | CT45A1 | copy fasta | chrX | 135708639 | 135728228 |
| c0002 | 1/0 | 570 | 16 | 6 | 1 | 7 | 0 | 1 | CT45A1_chrX_135708639_135728228 | CT45A1 | copy fasta | chrX | 135708639 | 135728228 |
| c0003 | 0/0 | 571 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | copy fasta | chrX | 135708639 | 135728228 |
| c0004 | 0/0 | 570 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | copy fasta | chrX | 135708639 | 135728228 |
| c0005 | 0/0 | 572 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | copy fasta | chrX | 135708639 | 135728228 |
| thapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 1/0 | 254 | 37 | 2 | 8 | 24 | 1 | 1 | CT45A1_chrX_135708639_135728228 | CT45A1 | copy fasta | chrX | 135708639 | 135728228 |
| t0002 | 0/0 | 254 | 19 | 9 | 1 | 8 | 0 | 1 | CT45A1_chrX_135708639_135728228 | CT45A1 | copy fasta | chrX | 135708639 | 135728228 |
| t0003 | 0/0 | 254 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | copy fasta | chrX | 135708639 | 135728228 |
| ghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 7 | 0 | 0 | 7 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| g0002 | 0/0 | 6 | 0 | 3 | 2 | 1 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| g0003 | 0/0 | 3 | 1 | 0 | 2 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| g0004 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| g0005 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| g0006 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| g0007 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| g0012 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| g0013 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| g0015 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| g0021 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| g0029 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| g0031 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| g0034 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| achapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 570 | 38 | 4 | 8 | 24 | 1 | 1 | CT45A1_chrX_135708639_135728228 | CT45A1 | copy fasta | chrX | 135708639 | 135728228 |
| a0002c0002 | 1/0 | 570 | 16 | 6 | 1 | 7 | 0 | 1 | CT45A1_chrX_135708639_135728228 | CT45A1 | copy fasta | chrX | 135708639 | 135728228 |
| a0003c0005 | 0/0 | 572 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | copy fasta | chrX | 135708639 | 135728228 |
| a0004c0004 | 0/0 | 570 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | copy fasta | chrX | 135708639 | 135728228 |
| a0005c0003 | 0/0 | 571 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | copy fasta | chrX | 135708639 | 135728228 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 823 | 34 | 1 | 8 | 23 | 1 | 1 | CT45A1_chrX_135708639_135728228 | CT45A1 | copy fasta | chrX | 135708639 | 135728228 |
| a0001c0001t0002 | 0/0 | 823 | 3 | 3 | 0 | 0 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | copy fasta | chrX | 135708639 | 135728228 |
| a0001c0001t0003 | 0/0 | 823 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | copy fasta | chrX | 135708639 | 135728228 |
| a0002c0002t0001 | 1/0 | 823 | 2 | 1 | 0 | 0 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | copy fasta | chrX | 135708639 | 135728228 |
| a0002c0002t0002 | 0/0 | 823 | 14 | 5 | 1 | 7 | 0 | 1 | CT45A1_chrX_135708639_135728228 | CT45A1 | copy fasta | chrX | 135708639 | 135728228 |
| a0003c0005t0002 | 0/0 | 825 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | copy fasta | chrX | 135708639 | 135728228 |
| a0004c0004t0001 | 0/0 | 823 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | copy fasta | chrX | 135708639 | 135728228 |
| a0005c0003t0002 | 0/0 | 824 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | copy fasta | chrX | 135708639 | 135728228 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 0/0 | 7 | 0 | 0 | 7 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0001c0001t0001g0002 | 0/0 | 6 | 0 | 3 | 2 | 1 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0001c0001t0001g0005 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0001c0001t0001g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0001c0001t0001g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0001c0001t0001g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0001c0001t0001g0013 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0001c0001t0001g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0001c0001t0001g0015 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0001c0001t0001g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0001c0001t0001g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0001c0001t0001g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0001c0001t0001g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0001c0001t0001g0029 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0001c0001t0001g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0001c0001t0001g0031 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0001c0001t0001g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0001c0001t0001g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0001c0001t0001g0034 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0001c0001t0001g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0001c0001t0001g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0001c0001t0001g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0001c0001t0002g0004 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0001c0001t0002g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0001c0001t0003g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0002c0002t0001g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0002c0002t0001g0012 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0002c0002t0002g0003 | 0/0 | 3 | 1 | 0 | 2 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0002c0002t0002g0006 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0002c0002t0002g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0002c0002t0002g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0002c0002t0002g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0002c0002t0002g0021 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0002c0002t0002g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0002c0002t0002g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0002c0002t0002g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0002c0002t0002g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0002c0002t0002g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0003c0005t0002g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0004c0004t0001g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| a0005c0003t0002g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00140 | hp1 | a0001 | c0001 | t0001 | g0002 | EUR | GBR | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| HG00438 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| HG00438 | hp2 | a0001 | c0001 | t0001 | g0028 | EAS | CHS | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| HG00621 | hp1 | a0002 | c0002 | t0002 | g0016 | EAS | CHS | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| HG00673 | hp1 | a0001 | c0001 | t0001 | g0008 | EAS | CHS | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| HG00741 | hp1 | a0001 | c0001 | t0001 | g0032 | AMR | PUR | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| HG00741 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | PUR | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| HG01074 | hp1 | a0001 | c0001 | t0001 | g0015 | AMR | PUR | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| HG01106 | hp1 | a0001 | c0001 | t0001 | g0029 | AMR | PUR | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| HG01192 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | PUR | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| HG01255 | hp1 | a0001 | c0001 | t0001 | g0013 | AMR | CLM | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| HG01358 | hp1 | a0001 | c0001 | t0001 | g0034 | AMR | CLM | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| HG01928 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | PEL | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| HG01943 | hp1 | a0002 | c0002 | t0002 | g0025 | AMR | PEL | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| HG02056 | hp1 | a0002 | c0002 | t0002 | g0003 | EAS | KHV | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| HG02132 | hp1 | a0002 | c0002 | t0002 | g0024 | EAS | KHV | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| HG02257 | hp1 | a0002 | c0002 | t0002 | g0020 | AFR | ACB | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| HG02257 | hp2 | a0001 | c0001 | t0002 | g0009 | AFR | ACB | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| HG02572 | hp1 | a0002 | c0002 | t0002 | g0003 | AFR | GWD | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| HG02717 | hp1 | a0002 | c0002 | t0002 | g0006 | AFR | GWD | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| HG02735 | hp1 | a0001 | c0001 | t0001 | g0031 | SAS | PJL | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| HG02818 | hp1 | a0001 | c0001 | t0002 | g0004 | AFR | GWD | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| HG02818 | hp2 | a0002 | c0002 | t0002 | g0006 | AFR | GWD | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| HG03098 | hp1 | a0002 | c0002 | t0002 | g0017 | AFR | MSL | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| HG03130 | hp1 | a0003 | c0005 | t0002 | g0018 | AFR | ESN | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| HG03688 | hp1 | a0002 | c0002 | t0002 | g0021 | SAS | STU | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA18747 | hp1 | a0001 | c0001 | t0001 | g0033 | EAS | CHB | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA18940 | hp1 | a0005 | c0003 | t0002 | g0022 | EAS | JPT | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA18943 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA18945 | hp1 | a0001 | c0001 | t0003 | g0007 | EAS | JPT | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA18948 | hp1 | a0002 | c0002 | t0002 | g0003 | EAS | JPT | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA18962 | hp1 | a0001 | c0001 | t0001 | g0014 | EAS | JPT | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA18966 | hp1 | a0002 | c0002 | t0002 | g0038 | EAS | JPT | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA18973 | hp1 | a0001 | c0001 | t0001 | g0005 | EAS | JPT | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA18973 | hp2 | a0001 | c0001 | t0001 | g0030 | EAS | JPT | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA18978 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA18978 | hp2 | a0001 | c0001 | t0001 | g0035 | EAS | JPT | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA18983 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA18984 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA18985 | hp1 | a0001 | c0001 | t0001 | g0010 | EAS | JPT | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA18990 | hp1 | a0001 | c0001 | t0001 | g0007 | EAS | JPT | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA19000 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA19005 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA19006 | hp1 | a0001 | c0001 | t0001 | g0027 | EAS | JPT | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA19007 | hp1 | a0001 | c0001 | t0001 | g0040 | EAS | JPT | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA19009 | hp1 | a0001 | c0001 | t0001 | g0026 | EAS | JPT | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA19012 | hp1 | a0002 | c0002 | t0002 | g0037 | EAS | JPT | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA19072 | hp1 | a0001 | c0001 | t0001 | g0005 | EAS | JPT | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA19079 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA19081 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA19081 | hp2 | a0004 | c0004 | t0001 | g0036 | EAS | JPT | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA19085 | hp1 | a0002 | c0002 | t0002 | g0023 | EAS | JPT | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA19089 | hp1 | a0001 | c0001 | t0001 | g0039 | EAS | JPT | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA20129 | hp1 | a0001 | c0001 | t0002 | g0004 | AFR | ASW | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| NA20129 | hp2 | a0001 | c0001 | t0001 | g0019 | AFR | ASW | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| HG02486 | hp1 | a0002 | c0002 | t0001 | g0011 | AFR | ACB | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| homoSapiens_grch38 | hp1 | a0002 | c0002 | t0001 | g0012 | REF | REF | CT45A1_chrX_135708639_135728228 | CT45A1 | chrX | 135708639 | 135728228 |
| 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:135718988
|
T | TA | 1 | a0005 | 1 | NA18940.hp1 | frameshift_variant | HIGH | c.51dupA | p.Arg18fs | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/5 | 110/823 | 52/570 | 18/189 | INFO_REALIGN_3_PRIME | chrX | 135718988 | |
| chrX:135719104
|
C | A | 2 | a0001a0004 | 39 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(36): Show |
missense_variant | MODERATE | c.164C>A | p.Ala55Glu | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/5 | 222/823 | 164/570 | 55/189 | chrX | 135719104 | ||
| chrX:135719108
|
G | C | 1 | a0004 | 1 | NA19081.hp2 | missense_variant&splice_region_variant | MODERATE | c.168G>C | p.Lys56Asn | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/5 | 226/823 | 168/570 | 56/189 | chrX | 135719108 | ||
| chrX:135721209
|
A | AAG | 1 | a0003 | 1 | HG03130.hp1 | frameshift_variant | HIGH | c.352_353dupAG | p.Ser118fs | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 3/5 | 412/823 | 354/570 | 118/189 | INFO_REALIGN_3_PRIME | chrX | 135721209 |
| 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 |
|---|
| 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:135713670
|
T | C | 4 | a0001c0001t0002a0002c0002t0002a0003c0005t0002others(1): Show | 19 | HG00621.hp1 HG01943.hp1 HG02056.hp1 others(16): Show |
5_prime_UTR_variant | MODIFIER | c.-27T>C | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/5 | 5271 | chrX | 135713670 | |||||
| chrX:135713671
|
G | A | 1 | a0001c0001t0003 | 1 | NA18945.hp1 | 5_prime_UTR_variant | MODIFIER | c.-26G>A | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/5 | 5270 | chrX | 135713671 |
| 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:135713835
|
C | T | 1 | a0001c0001t0001g0040 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.-7+145C>T | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135713835 | ||||||
| chrX:135713851
|
G | A | 1 | a0001c0001t0001g0008 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.-7+161G>A | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135713851 | ||||||
| chrX:135713871
|
C | CG | 1 | a0001c0001t0001g0039 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.-7+181_-7+182insG | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135713871 | ||||||
| chrX:135714037
|
G | A | 2 | a0001c0001t0002g0004a0001c0001t0002g0009 | 3 | HG02257.hp2 HG02818.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.-7+347G>A | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135714037 | ||||||
| chrX:135714061
|
C | T | 1 | a0002c0002t0002g0038 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.-7+371C>T | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135714061 | ||||||
| chrX:135714066
|
T | TC | 1 | a0001c0001t0001g0010 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.-7+378dupC | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | 135714066 | |||||
| chrX:135714073
|
C | G | 39 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(36): Show | 55 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(52): Show |
intron_variant | MODIFIER | c.-7+383C>G | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135714073 | ||||||
| chrX:135714148
|
G | A | 1 | a0001c0001t0001g0013 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.-7+458G>A | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135714148 | ||||||
| chrX:135714340
|
G | GC | 1 | a0001c0001t0001g0010 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.-7+651dupC | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | 135714340 | |||||
| chrX:135714357
|
CG | C | 1 | a0001c0001t0001g0039 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.-7+672delG | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | 135714357 | |||||
| chrX:135714463
|
T | G | 2 | a0001c0001t0001g0005a0001c0001t0001g0014 | 3 | NA18962.hp1 NA18973.hp1 NA19072.hp1 |
intron_variant | MODIFIER | c.-7+773T>G | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135714463 | ||||||
| chrX:135714491
|
G | T | 1 | a0001c0001t0001g0005 | 2 | NA18973.hp1 NA19072.hp1 |
intron_variant | MODIFIER | c.-7+801G>T | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135714491 | ||||||
| chrX:135714500
|
T | G | 1 | a0001c0001t0001g0005 | 2 | NA18973.hp1 NA19072.hp1 |
intron_variant | MODIFIER | c.-7+810T>G | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135714500 | ||||||
| chrX:135714514
|
A | G | 1 | a0001c0001t0001g0005 | 2 | NA18973.hp1 NA19072.hp1 |
intron_variant | MODIFIER | c.-7+824A>G | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135714514 | ||||||
| chrX:135714520
|
C | T | 1 | a0001c0001t0001g0005 | 2 | NA18973.hp1 NA19072.hp1 |
intron_variant | MODIFIER | c.-7+830C>T | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135714520 | ||||||
| chrX:135714521
|
A | C | 1 | a0001c0001t0001g0005 | 2 | NA18973.hp1 NA19072.hp1 |
intron_variant | MODIFIER | c.-7+831A>C | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135714521 | ||||||
| chrX:135714523
|
C | T | 1 | a0001c0001t0001g0005 | 2 | NA18973.hp1 NA19072.hp1 |
intron_variant | MODIFIER | c.-7+833C>T | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135714523 | ||||||
| chrX:135714528
|
C | T | 1 | a0001c0001t0001g0005 | 2 | NA18973.hp1 NA19072.hp1 |
intron_variant | MODIFIER | c.-7+838C>T | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135714528 | ||||||
| chrX:135714835
|
G | GT | 2 | a0001c0001t0001g0010a0002c0002t0002g0037 | 2 | NA18985.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.-7+1160dupT | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | 135714835 | |||||
| chrX:135714835
|
GT | G | 1 | a0001c0001t0001g0015 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.-7+1160delT | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | 135714835 | |||||
| chrX:135715042
|
AT | A | 1 | a0001c0001t0001g0039 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.-7+1356delT | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | 135715042 | |||||
| chrX:135715121
|
TTATTA | T | 1 | a0002c0002t0002g0016 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.-7+1432_-7+1436del others(5): Show |
CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135715121 | ||||||
| chrX:135715127
|
G | A | 1 | a0002c0002t0002g0016 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.-7+1437G>A | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135715127 | ||||||
| chrX:135715234
|
T | TTATATAT others(10): Show |
23 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(20): Show | 34 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(31): Show |
intron_variant | MODIFIER | c.-7+1587_-7+1603dup others(17): Show |
CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | 135715234 | |||||
| chrX:135715265
|
CTT | C | 2 | a0001c0001t0002g0004a0001c0001t0002g0009 | 3 | HG02257.hp2 HG02818.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.-7+1576_-7+1577del others(2): Show |
CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135715265 | ||||||
| chrX:135715283
|
T | TTATATAT others(10): Show |
1 | a0001c0001t0001g0005 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.-7+1587_-7+1603dup others(17): Show |
CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | 135715283 | |||||
| chrX:135715335
|
A | ATATATAT others(21): Show |
9 | a0001c0001t0002g0004a0002c0002t0002g0003a0002c0002t0002g0006others(6): Show | 13 | HG00621.hp1 HG01943.hp1 HG02056.hp1 others(10): Show |
intron_variant | MODIFIER | c.-7+1662_-7+1663ins others(28): Show |
CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | 135715335 | |||||
| chrX:135715335
|
ATATATAT others(21): Show |
A | 1 | a0002c0002t0002g0020 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.-7+1663_-7+1690del others(28): Show |
CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | 135715335 | |||||
| chrX:135715353
|
C | T | 38 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(35): Show | 54 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(51): Show |
intron_variant | MODIFIER | c.-7+1663C>T | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135715353 | ||||||
| chrX:135715365
|
A | ATATATAT others(6): Show |
2 | a0002c0002t0002g0017a0003c0005t0002g0018 | 2 | HG03098.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.-7+1697_-7+1709dup others(13): Show |
CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | 135715365 | |||||
| chrX:135715406
|
TTATATAT others(8): Show |
T | 1 | a0002c0002t0001g0011 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.-7+1738_-7+1752del others(15): Show |
CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | 135715406 | |||||
| chrX:135715419
|
TTA | T | 24 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(21): Show | 36 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(33): Show |
intron_variant | MODIFIER | c.-7+1738_-7+1739del others(2): Show |
CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | 135715419 | |||||
| chrX:135715436
|
A | ATAGG | 24 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(21): Show | 36 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(33): Show |
intron_variant | MODIFIER | c.-7+1748_-7+1749ins others(4): Show |
CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | 135715436 | |||||
| chrX:135715464
|
A | ATAGG | 24 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(21): Show | 36 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(33): Show |
intron_variant | MODIFIER | c.-7+1776_-7+1777ins others(4): Show |
CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | 135715464 | |||||
| chrX:135715569
|
ATATATAT others(23): Show |
A | 10 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(7): Show | 16 | HG00438.hp1 HG00438.hp2 HG00673.hp1 others(13): Show |
intron_variant | MODIFIER | c.-7+1897_-7+1926del others(30): Show |
CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | 135715569 | |||||
| chrX:135715587
|
G | T | 14 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0010others(11): Show | 20 | HG00140.hp1 HG00741.hp1 HG00741.hp2 others(17): Show |
intron_variant | MODIFIER | c.-7+1897G>T | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135715587 | ||||||
| chrX:135715599
|
T | TTA | 14 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0010others(11): Show | 20 | HG00140.hp1 HG00741.hp1 HG00741.hp2 others(17): Show |
intron_variant | MODIFIER | c.-7+1916_-7+1917dup others(2): Show |
CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | 135715599 | |||||
| chrX:135715647
|
T | C | 13 | a0002c0002t0002g0003a0002c0002t0002g0006a0002c0002t0002g0016others(10): Show | 16 | HG00621.hp1 HG01943.hp1 HG02056.hp1 others(13): Show |
intron_variant | MODIFIER | c.-7+1957T>C | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135715647 | ||||||
| chrX:135715853
|
G | GC | 2 | a0001c0001t0001g0029a0002c0002t0002g0017 | 2 | HG01106.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.-7+2169dupC | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | 135715853 | |||||
| chrX:135716205
|
A | AT | 1 | a0001c0001t0001g0010 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.-7+2517dupT | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | 135716205 | |||||
| chrX:135716572
|
C | T | 1 | a0002c0002t0002g0038 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.-6-2363C>T | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135716572 | ||||||
| chrX:135716816
|
GAAGT | G | 24 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(21): Show | 36 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(33): Show |
intron_variant | MODIFIER | c.-6-2115_-6-2112del others(4): Show |
CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | 135716816 | |||||
| chrX:135716982
|
A | T | 10 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(7): Show | 16 | HG00438.hp1 HG00438.hp2 HG00673.hp1 others(13): Show |
intron_variant | MODIFIER | c.-6-1953A>T | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135716982 | ||||||
| chrX:135717036
|
G | A | 39 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(36): Show | 55 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(52): Show |
intron_variant | MODIFIER | c.-6-1899G>A | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135717036 | ||||||
| chrX:135717202
|
G | T | 2 | a0001c0001t0001g0008a0001c0001t0001g0028 | 2 | HG00438.hp2 HG00673.hp1 |
intron_variant | MODIFIER | c.-6-1733G>T | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135717202 | ||||||
| chrX:135717442
|
G | A | 24 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(21): Show | 36 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(33): Show |
intron_variant | MODIFIER | c.-6-1493G>A | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135717442 | ||||||
| chrX:135717472
|
T | C | 24 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(21): Show | 36 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(33): Show |
intron_variant | MODIFIER | c.-6-1463T>C | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135717472 | ||||||
| chrX:135717548
|
CA | C | 24 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(21): Show | 36 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(33): Show |
intron_variant | MODIFIER | c.-6-1376delA | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | 135717548 | |||||
| chrX:135718072
|
C | G | 1 | a0001c0001t0001g0028 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.-6-863C>G | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135718072 | ||||||
| chrX:135718147
|
C | A | 10 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(7): Show | 16 | HG00438.hp1 HG00438.hp2 HG00673.hp1 others(13): Show |
intron_variant | MODIFIER | c.-6-788C>A | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135718147 | ||||||
| chrX:135718352
|
A | ATTTTTGG others(7): Show |
1 | a0004c0004t0001g0036 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.-6-580_-6-567dupTT others(12): Show |
CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | 135718352 | |||||
| chrX:135718437
|
A | G | 1 | a0004c0004t0001g0036 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.-6-498A>G | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135718437 | ||||||
| chrX:135718443
|
T | A | 1 | a0001c0001t0001g0030 | 1 | NA18973.hp2 | intron_variant | MODIFIER | c.-6-492T>A | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135718443 | ||||||
| chrX:135718460
|
G | C | 1 | a0004c0004t0001g0036 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.-6-475G>C | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135718460 | ||||||
| chrX:135718461
|
A | G | 1 | a0004c0004t0001g0036 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.-6-474A>G | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135718461 | ||||||
| chrX:135718471
|
A | G | 1 | a0004c0004t0001g0036 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.-6-464A>G | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135718471 | ||||||
| chrX:135718492
|
T | C | 1 | a0004c0004t0001g0036 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.-6-443T>C | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135718492 | ||||||
| chrX:135718514
|
ACATATTT others(5): Show |
A | 1 | a0004c0004t0001g0036 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.-6-420_-6-409delCA others(10): Show |
CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135718514 | ||||||
| chrX:135718527
|
A | T | 1 | a0004c0004t0001g0036 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.-6-408A>T | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135718527 | ||||||
| chrX:135718532
|
A | G | 1 | a0004c0004t0001g0036 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.-6-403A>G | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135718532 | ||||||
| chrX:135718535
|
G | A | 13 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0010others(10): Show | 19 | HG00140.hp1 HG00741.hp1 HG00741.hp2 others(16): Show |
intron_variant | MODIFIER | c.-6-400G>A | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135718535 | ||||||
| chrX:135718547
|
G | A | 1 | a0004c0004t0001g0036 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.-6-388G>A | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135718547 | ||||||
| chrX:135718563
|
T | A | 1 | a0004c0004t0001g0036 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.-6-372T>A | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135718563 | ||||||
| chrX:135718567
|
C | T | 1 | a0004c0004t0001g0036 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.-6-368C>T | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135718567 | ||||||
| chrX:135718595
|
G | T | 1 | a0004c0004t0001g0036 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.-6-340G>T | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135718595 | ||||||
| chrX:135718597
|
T | C | 1 | a0004c0004t0001g0036 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.-6-338T>C | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135718597 | ||||||
| chrX:135718604
|
C | T | 1 | a0004c0004t0001g0036 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.-6-331C>T | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | chrX | 135718604 | ||||||
| chrX:135719284
|
T | TC | 10 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(7): Show | 16 | HG00438.hp1 HG00438.hp2 HG00673.hp1 others(13): Show |
intron_variant | MODIFIER | c.169+176dupC | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chrX | 135719284 | |||||
| chrX:135719285
|
C | CT | 25 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0010others(22): Show | 34 | HG00140.hp1 HG00621.hp1 HG00741.hp1 others(31): Show |
intron_variant | MODIFIER | c.169+188dupT | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chrX | 135719285 | |||||
| chrX:135719285
|
CT | C | 1 | a0002c0002t0002g0037 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.169+188delT | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chrX | 135719285 | |||||
| chrX:135719286
|
T | C | 1 | a0001c0001t0001g0039 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.169+177T>C | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135719286 | ||||||
| chrX:135719348
|
C | G | 22 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(19): Show | 35 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(32): Show |
intron_variant | MODIFIER | c.169+239C>G | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135719348 | ||||||
| chrX:135719372
|
G | C | 1 | a0002c0002t0002g0023 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.169+263G>C | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135719372 | ||||||
| chrX:135719465
|
G | C | 3 | a0002c0002t0002g0006a0002c0002t0002g0024a0002c0002t0002g0037 | 4 | HG02132.hp1 HG02717.hp1 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.169+356G>C | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135719465 | ||||||
| chrX:135719488
|
A | AT | 1 | a0002c0002t0002g0037 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.169+384dupT | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chrX | 135719488 | |||||
| chrX:135719546
|
TC | T | 1 | a0004c0004t0001g0036 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.169+444delC | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chrX | 135719546 | |||||
| chrX:135719650
|
T | G | 14 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0010others(11): Show | 20 | HG00140.hp1 HG00741.hp1 HG00741.hp2 others(17): Show |
intron_variant | MODIFIER | c.169+541T>G | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135719650 | ||||||
| chrX:135719672
|
C | T | 27 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(24): Show | 40 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(37): Show |
intron_variant | MODIFIER | c.169+563C>T | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135719672 | ||||||
| chrX:135719678
|
AT | A | 1 | a0004c0004t0001g0036 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.169+571delT | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chrX | 135719678 | |||||
| chrX:135719703
|
T | C | 3 | a0001c0001t0001g0031a0001c0001t0001g0032a0004c0004t0001g0036 | 3 | HG00741.hp1 HG02735.hp1 NA19081.hp2 |
intron_variant | MODIFIER | c.169+594T>C | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135719703 | ||||||
| chrX:135719750
|
T | A | 4 | a0002c0002t0002g0006a0002c0002t0002g0017a0002c0002t0002g0037others(1): Show | 5 | HG02717.hp1 HG02818.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.169+641T>A | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135719750 | ||||||
| chrX:135719789
|
AC | A | 1 | a0002c0002t0002g0037 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.169+683delC | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chrX | 135719789 | |||||
| chrX:135719914
|
T | C | 27 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(24): Show | 40 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(37): Show |
intron_variant | MODIFIER | c.169+805T>C | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135719914 | ||||||
| chrX:135720065
|
C | T | 10 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(7): Show | 16 | HG00438.hp1 HG00438.hp2 HG00673.hp1 others(13): Show |
intron_variant | MODIFIER | c.169+956C>T | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135720065 | ||||||
| chrX:135720095
|
C | T | 3 | a0002c0002t0002g0006a0002c0002t0002g0037a0003c0005t0002g0018 | 4 | HG02717.hp1 HG02818.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.170-933C>T | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135720095 | ||||||
| chrX:135720157
|
T | TG | 1 | a0002c0002t0002g0017 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.170-867dupG | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chrX | 135720157 | |||||
| chrX:135720285
|
G | C | 28 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(25): Show | 41 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(38): Show |
intron_variant | MODIFIER | c.170-743G>C | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135720285 | ||||||
| chrX:135720378
|
T | TC | 1 | a0002c0002t0002g0037 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.170-649dupC | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chrX | 135720378 | |||||
| chrX:135720444
|
C | G | 4 | a0002c0002t0002g0006a0002c0002t0002g0017a0002c0002t0002g0037others(1): Show | 5 | HG02717.hp1 HG02818.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.170-584C>G | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135720444 | ||||||
| chrX:135720454
|
T | C | 4 | a0002c0002t0002g0006a0002c0002t0002g0017a0002c0002t0002g0037others(1): Show | 5 | HG02717.hp1 HG02818.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.170-574T>C | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135720454 | ||||||
| chrX:135720461
|
T | G | 4 | a0002c0002t0002g0006a0002c0002t0002g0017a0002c0002t0002g0037others(1): Show | 5 | HG02717.hp1 HG02818.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.170-567T>G | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135720461 | ||||||
| chrX:135720464
|
A | G | 4 | a0002c0002t0002g0006a0002c0002t0002g0017a0002c0002t0002g0037others(1): Show | 5 | HG02717.hp1 HG02818.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.170-564A>G | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135720464 | ||||||
| chrX:135720471
|
A | G | 4 | a0002c0002t0002g0006a0002c0002t0002g0017a0002c0002t0002g0037others(1): Show | 5 | HG02717.hp1 HG02818.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.170-557A>G | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135720471 | ||||||
| chrX:135720473
|
A | G | 4 | a0002c0002t0002g0006a0002c0002t0002g0017a0002c0002t0002g0037others(1): Show | 5 | HG02717.hp1 HG02818.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.170-555A>G | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135720473 | ||||||
| chrX:135720475
|
G | A | 39 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(36): Show | 55 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(52): Show |
intron_variant | MODIFIER | c.170-553G>A | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135720475 | ||||||
| chrX:135720485
|
C | T | 4 | a0002c0002t0002g0006a0002c0002t0002g0017a0002c0002t0002g0037others(1): Show | 5 | HG02717.hp1 HG02818.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.170-543C>T | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135720485 | ||||||
| chrX:135720499
|
A | G | 4 | a0002c0002t0002g0006a0002c0002t0002g0017a0002c0002t0002g0037others(1): Show | 5 | HG02717.hp1 HG02818.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.170-529A>G | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135720499 | ||||||
| chrX:135720518
|
A | G | 4 | a0002c0002t0002g0006a0002c0002t0002g0017a0002c0002t0002g0037others(1): Show | 5 | HG02717.hp1 HG02818.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.170-510A>G | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135720518 | ||||||
| chrX:135720527
|
G | A | 4 | a0002c0002t0002g0006a0002c0002t0002g0017a0002c0002t0002g0037others(1): Show | 5 | HG02717.hp1 HG02818.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.170-501G>A | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135720527 | ||||||
| chrX:135720529
|
AG | A | 4 | a0002c0002t0002g0006a0002c0002t0002g0017a0002c0002t0002g0037others(1): Show | 5 | HG02717.hp1 HG02818.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.170-498delG | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135720529 | ||||||
| chrX:135720532
|
G | C | 4 | a0002c0002t0002g0006a0002c0002t0002g0017a0002c0002t0002g0037others(1): Show | 5 | HG02717.hp1 HG02818.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.170-496G>C | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135720532 | ||||||
| chrX:135720538
|
G | A | 4 | a0002c0002t0002g0006a0002c0002t0002g0017a0002c0002t0002g0037others(1): Show | 5 | HG02717.hp1 HG02818.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.170-490G>A | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135720538 | ||||||
| chrX:135720540
|
T | C | 4 | a0002c0002t0002g0006a0002c0002t0002g0017a0002c0002t0002g0037others(1): Show | 5 | HG02717.hp1 HG02818.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.170-488T>C | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | chrX | 135720540 | ||||||
| chrX:135720975
|
AGAAAGT | A | 1 | a0001c0001t0001g0029 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.170-51_170-46delAA others(4): Show |
CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chrX | 135720975 | |||||
| chrX:135721633
|
G | GT | 8 | a0001c0001t0001g0027a0002c0002t0002g0006a0002c0002t0002g0023others(5): Show | 9 | HG01943.hp1 HG02132.hp1 HG02717.hp1 others(6): Show |
intron_variant | MODIFIER | c.419-13dupT | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | 135721633 | |||||
| chrX:135721633
|
G | GTT | 1 | a0002c0002t0002g0017 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.419-14_419-13dupTT | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | 135721633 | |||||
| chrX:135721633
|
GT | G | 1 | a0001c0001t0001g0031 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.419-13delT | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | 135721633 | |||||
| chrX:135721808
|
TG | T | 1 | a0004c0004t0001g0036 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.512+62delG | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | 135721808 | |||||
| chrX:135721875
|
C | T | 39 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(36): Show | 55 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(52): Show |
intron_variant | MODIFIER | c.512+124C>T | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 4/4 | chrX | 135721875 | ||||||
| chrX:135721915
|
G | C | 2 | a0001c0001t0002g0004a0001c0001t0002g0009 | 3 | HG02257.hp2 HG02818.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.512+164G>C | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 4/4 | chrX | 135721915 | ||||||
| chrX:135722231
|
T | G | 26 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0010others(23): Show | 35 | HG00140.hp1 HG00621.hp1 HG00741.hp1 others(32): Show |
intron_variant | MODIFIER | c.512+480T>G | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 4/4 | chrX | 135722231 | ||||||
| chrX:135722241
|
AT | A | 1 | a0003c0005t0002g0018 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.512+491delT | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 4/4 | chrX | 135722241 | ||||||
| chrX:135722346
|
CTCTATCT others(22): Show |
C | 1 | a0001c0001t0001g0034 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.512+596_513-601del others(29): Show |
CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 4/4 | chrX | 135722346 | ||||||
| chrX:135722451
|
A | G | 1 | a0001c0001t0001g0026 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.513-525A>G | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 4/4 | chrX | 135722451 | ||||||
| chrX:135722495
|
C | CT | 1 | a0003c0005t0002g0018 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.513-473dupT | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | 135722495 | |||||
| chrX:135722639
|
G | C | 2 | a0001c0001t0001g0007a0001c0001t0003g0007 | 2 | NA18945.hp1 NA18990.hp1 |
intron_variant | MODIFIER | c.513-337G>C | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 4/4 | chrX | 135722639 | ||||||
| chrX:135722739
|
C | G | 1 | a0002c0002t0002g0020 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.513-237C>G | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 4/4 | chrX | 135722739 | ||||||
| chrX:135722905
|
T | C | 13 | a0002c0002t0002g0003a0002c0002t0002g0006a0002c0002t0002g0016others(10): Show | 16 | HG00621.hp1 HG01943.hp1 HG02056.hp1 others(13): Show |
intron_variant | MODIFIER | c.513-71T>C | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 4/4 | chrX | 135722905 | ||||||
| chrX:135722906
|
G | A | 13 | a0002c0002t0002g0003a0002c0002t0002g0006a0002c0002t0002g0016others(10): Show | 16 | HG00621.hp1 HG01943.hp1 HG02056.hp1 others(13): Show |
intron_variant | MODIFIER | c.513-70G>A | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 4/4 | chrX | 135722906 | ||||||
| chrX:135722913
|
C | T | 13 | a0002c0002t0002g0003a0002c0002t0002g0006a0002c0002t0002g0016others(10): Show | 16 | HG00621.hp1 HG01943.hp1 HG02056.hp1 others(13): Show |
intron_variant | MODIFIER | c.513-63C>T | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 4/4 | chrX | 135722913 | ||||||
| chrX:135722919
|
CTACAGCA others(22): Show |
C | 1 | a0001c0001t0001g0035 | 1 | NA18978.hp2 | intron_variant | MODIFIER | c.513-56_513-28delTA others(27): Show |
CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 4/4 | chrX | 135722919 | ||||||
| chrX:135722937
|
G | A | 12 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0010others(9): Show | 18 | HG00140.hp1 HG00741.hp1 HG00741.hp2 others(15): Show |
intron_variant | MODIFIER | c.513-39G>A | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 4/4 | chrX | 135722937 | ||||||
| chrX:135722968
|
CT | C | 1 | a0005c0003t0002g0022 | 1 | NA18940.hp1 | splice_region_variant&intron_variant | LOW | c.513-4delT | CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | 135722968 |