| geneid | 728075 |
|---|---|
| ensemblid | ENSG00000230594.3 |
| hgncid | 33285 |
| symbol | CT47A4 |
| name | cancer/testis antigen family 47 member A4 |
| refseq_nuc | NM_001080143.2 |
| refseq_prot | NP_001073612.1 |
| ensembl_nuc | ENST00000415858.3 |
| ensembl_prot | ENSP00000389513.2 |
| mane_status | MANE Select |
| chr | chrX |
| start | 120967886 |
| end | 120971208 |
| strand | - |
| ver | v1.2 |
| region | chrX:120967886-120971208 |
| region5000 | chrX:120962886-120976208 |
| regionname0 | CT47A4_chrX_120967886_120971208 |
| regionname5000 | CT47A4_chrX_120962886_120976208 |
| ahapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/0 | 288 | 148 | 49 | 32 | 44 | 6 | 17 | 24 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| a0002 | 0/0 | 288 | 5 | 5 | 0 | 0 | 0 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| a0003 | 0/0 | 141 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| a0004 | 0/0 | 202 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| a0005 | 0/0 | 281 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| a0006 | 0/0 | 288 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| a0007 | 0/0 | 288 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| a0008 | 0/0 | 288 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| a0009 | 0/0 | 288 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| a0010 | 0/0 | 202 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| a0011 | 0/0 | 202 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| a0012 | 0/0 | 66 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| a0013 | 0/0 | 66 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| chapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 0/0 | 867 | 128 | 48 | 29 | 32 | 5 | 14 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| c0002 | 0/0 | 867 | 16 | 0 | 2 | 11 | 0 | 3 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| c0003 | 0/0 | 867 | 5 | 5 | 0 | 0 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| c0004 | 0/0 | 867 | 1 | 1 | 0 | 0 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| c0005 | 0/0 | 867 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| c0006 | 0/0 | 868 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| c0007 | 0/0 | 868 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| c0008 | 0/0 | 867 | 1 | 0 | 1 | 0 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| c0009 | 0/0 | 867 | 1 | 1 | 0 | 0 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| c0010 | 0/0 | 867 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| c0011 | 0/0 | 866 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| c0012 | 0/0 | 867 | 1 | 1 | 0 | 0 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| c0013 | 0/0 | 867 | 1 | 0 | 1 | 0 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| c0014 | 0/0 | 868 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| c0015 | 0/0 | 866 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| c0016 | 0/0 | 867 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| c0017 | 0/0 | 867 | 1 | 0 | 0 | 0 | 1 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| c0018 | 0/0 | 871 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| thapid | grch38chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 0/0 | 432 | 88 | 28 | 17 | 30 | 3 | 10 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| t0002 | 0/0 | 432 | 65 | 27 | 10 | 18 | 3 | 7 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| t0003 | 0/0 | 432 | 8 | 1 | 6 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| t0004 | 0/0 | 432 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| t0005 | 0/0 | 432 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| t0006 | 0/0 | 429 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| ghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 42 | 22 | 8 | 5 | 3 | 4 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| g0002 | 0/0 | 37 | 2 | 12 | 13 | 2 | 8 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| g0003 | 0/0 | 19 | 7 | 3 | 7 | 0 | 2 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| g0004 | 0/0 | 14 | 0 | 2 | 10 | 0 | 2 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| g0005 | 0/0 | 11 | 11 | 0 | 0 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| g0006 | 0/0 | 7 | 1 | 5 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| g0007 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| g0008 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| g0009 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| g0010 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| g0015 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| g0017 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| g0026 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| g0027 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| g0032 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| achapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 867 | 128 | 48 | 29 | 32 | 5 | 14 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| a0001c0002 | 0/0 | 867 | 16 | 0 | 2 | 11 | 0 | 3 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| a0001c0004 | 0/0 | 867 | 1 | 1 | 0 | 0 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| a0001c0005 | 0/0 | 867 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| a0001c0008 | 0/0 | 867 | 1 | 0 | 1 | 0 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| a0001c0017 | 0/0 | 867 | 1 | 0 | 0 | 0 | 1 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| a0002c0003 | 0/0 | 867 | 5 | 5 | 0 | 0 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| a0003c0015 | 0/0 | 866 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| a0004c0007 | 0/0 | 868 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| a0005c0011 | 0/0 | 866 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| a0006c0010 | 0/0 | 867 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| a0007c0009 | 0/0 | 867 | 1 | 1 | 0 | 0 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| a0008c0012 | 0/0 | 867 | 1 | 1 | 0 | 0 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| a0009c0013 | 0/0 | 867 | 1 | 0 | 1 | 0 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| a0010c0006 | 0/0 | 868 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| a0011c0014 | 0/0 | 868 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| a0012c0016 | 0/0 | 867 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| a0013c0018 | 0/0 | 871 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 1298 | 76 | 24 | 16 | 24 | 2 | 10 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| a0001c0001t0002 | 0/0 | 1298 | 44 | 23 | 8 | 6 | 3 | 4 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| a0001c0001t0003 | 0/0 | 1298 | 7 | 1 | 5 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| a0001c0001t0006 | 0/0 | 1295 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| a0001c0002t0002 | 0/0 | 1298 | 16 | 0 | 2 | 11 | 0 | 3 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| a0001c0004t0002 | 0/0 | 1298 | 1 | 1 | 0 | 0 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| a0001c0005t0001 | 0/0 | 1298 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| a0001c0008t0001 | 0/0 | 1298 | 1 | 0 | 1 | 0 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| a0001c0017t0001 | 0/0 | 1298 | 1 | 0 | 0 | 0 | 1 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| a0002c0003t0001 | 0/0 | 1298 | 3 | 3 | 0 | 0 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| a0002c0003t0002 | 0/0 | 1298 | 2 | 2 | 0 | 0 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| a0003c0015t0002 | 0/0 | 1297 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| a0004c0007t0001 | 0/0 | 1299 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| a0005c0011t0005 | 0/0 | 1297 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| a0006c0010t0001 | 0/0 | 1298 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| a0007c0009t0001 | 0/0 | 1298 | 1 | 1 | 0 | 0 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| a0008c0012t0002 | 0/0 | 1298 | 1 | 1 | 0 | 0 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| a0009c0013t0003 | 0/0 | 1298 | 1 | 0 | 1 | 0 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| a0010c0006t0001 | 0/0 | 1299 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| a0011c0014t0001 | 0/0 | 1299 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| a0012c0016t0001 | 0/0 | 1298 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| a0013c0018t0004 | 0/0 | 1302 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | copy fasta | chrX | 120962886 | 120976208 |
| actghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0002 | 0/0 | 37 | 2 | 12 | 13 | 2 | 8 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| a0001c0001t0001g0003 | 0/0 | 19 | 7 | 3 | 7 | 0 | 2 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| a0001c0001t0001g0005 | 0/0 | 11 | 11 | 0 | 0 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| a0001c0001t0001g0007 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| a0001c0001t0001g0009 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| a0001c0001t0001g0017 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| a0001c0001t0001g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| a0001c0001t0001g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| a0001c0001t0001g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| a0001c0001t0002g0001 | 0/0 | 42 | 22 | 8 | 5 | 3 | 4 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| a0001c0001t0002g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| a0001c0001t0002g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| a0001c0001t0003g0006 | 0/0 | 7 | 1 | 5 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| a0001c0001t0006g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| a0001c0002t0002g0004 | 0/0 | 14 | 0 | 2 | 10 | 0 | 2 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| a0001c0002t0002g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| a0001c0002t0002g0032 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| a0001c0004t0002g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| a0001c0005t0001g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| a0001c0008t0001g0015 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| a0001c0017t0001g0026 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| a0002c0003t0001g0008 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| a0002c0003t0002g0010 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| a0003c0015t0002g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| a0004c0007t0001g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| a0005c0011t0005g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| a0006c0010t0001g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| a0007c0009t0001g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| a0008c0012t0002g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| a0009c0013t0003g0027 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| a0010c0006t0001g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| a0011c0014t0001g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| a0012c0016t0001g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| a0013c0018t0004g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00140 | hp1 | a0001 | c0017 | t0001 | g0026 | EUR | GBR | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG00544 | hp1 | a0001 | c0001 | t0002 | g0001 | EAS | CHS | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG00544 | hp2 | a0010 | c0006 | t0001 | g0013 | EAS | CHS | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG00558 | hp1 | a0001 | c0001 | t0001 | g0009 | EAS | CHS | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG00558 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | CHS | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG00597 | hp1 | a0001 | c0001 | t0001 | g0009 | EAS | CHS | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG00597 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | CHS | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG00609 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | CHS | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG00642 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | PUR | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG00673 | hp1 | a0001 | c0001 | t0002 | g0030 | EAS | CHS | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG00735 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | PUR | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG00735 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | PUR | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG00738 | hp1 | a0001 | c0001 | t0001 | g0017 | AMR | PUR | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG00741 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | PUR | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG00741 | hp2 | a0009 | c0013 | t0003 | g0027 | AMR | PUR | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG01069 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | PUR | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG01071 | hp1 | a0001 | c0001 | t0002 | g0001 | AMR | PUR | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG01071 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | PUR | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG01074 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | PUR | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG01099 | hp1 | a0001 | c0001 | t0001 | g0003 | AMR | PUR | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG01106 | hp1 | a0001 | c0001 | t0003 | g0006 | AMR | PUR | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG01169 | hp1 | a0001 | c0001 | t0002 | g0001 | AMR | PUR | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG01169 | hp2 | a0001 | c0001 | t0002 | g0001 | AMR | PUR | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG01175 | hp1 | a0001 | c0001 | t0002 | g0001 | AMR | PUR | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG01175 | hp2 | a0001 | c0001 | t0003 | g0006 | AMR | PUR | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG01192 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | PUR | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG01255 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | CLM | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG01258 | hp1 | a0001 | c0008 | t0001 | g0015 | AMR | CLM | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG01261 | hp1 | a0001 | c0001 | t0002 | g0001 | AMR | CLM | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG01346 | hp1 | a0001 | c0001 | t0002 | g0001 | AMR | CLM | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG01346 | hp2 | a0001 | c0002 | t0002 | g0004 | AMR | CLM | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG01358 | hp1 | a0001 | c0001 | t0002 | g0001 | AMR | CLM | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG01361 | hp1 | a0001 | c0001 | t0003 | g0006 | AMR | CLM | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG01361 | hp2 | a0001 | c0002 | t0002 | g0004 | AMR | CLM | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG01433 | hp1 | a0001 | c0001 | t0003 | g0006 | AMR | CLM | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG01515 | hp1 | a0001 | c0001 | t0002 | g0001 | EUR | IBS | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG01517 | hp1 | a0001 | c0001 | t0002 | g0001 | EUR | IBS | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG01517 | hp2 | a0001 | c0001 | t0001 | g0002 | EUR | IBS | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG01884 | hp1 | a0001 | c0001 | t0001 | g0005 | AFR | ACB | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG01884 | hp2 | a0001 | c0001 | t0002 | g0001 | AFR | ACB | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG01928 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | PEL | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG01934 | hp1 | a0001 | c0001 | t0003 | g0006 | AMR | PEL | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG01952 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | PEL | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG01993 | hp1 | a0001 | c0001 | t0001 | g0003 | AMR | PEL | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG01993 | hp2 | a0001 | c0001 | t0002 | g0001 | AMR | PEL | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG02004 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | PEL | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG02004 | hp2 | a0001 | c0001 | t0001 | g0003 | AMR | PEL | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG02015 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | KHV | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG02027 | hp1 | a0001 | c0005 | t0001 | g0012 | EAS | KHV | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG02055 | hp1 | a0001 | c0001 | t0002 | g0001 | AFR | ACB | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG02071 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | KHV | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG02074 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | KHV | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG02080 | hp1 | a0001 | c0002 | t0002 | g0004 | EAS | KHV | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG02080 | hp2 | a0001 | c0002 | t0002 | g0004 | EAS | KHV | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG02129 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | KHV | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG02132 | hp1 | a0001 | c0002 | t0002 | g0004 | EAS | KHV | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG02165 | hp1 | a0001 | c0002 | t0002 | g0031 | EAS | CDX | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG02165 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | CDX | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG02258 | hp1 | a0001 | c0001 | t0001 | g0007 | AFR | ACB | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG02523 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | KHV | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG02523 | hp2 | a0001 | c0002 | t0002 | g0004 | EAS | KHV | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG02572 | hp1 | a0002 | c0003 | t0002 | g0010 | AFR | GWD | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG02615 | hp1 | a0001 | c0001 | t0001 | g0005 | AFR | GWD | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG02615 | hp2 | a0001 | c0001 | t0002 | g0001 | AFR | GWD | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG02622 | hp1 | a0001 | c0001 | t0001 | g0003 | AFR | GWD | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG02622 | hp2 | a0001 | c0001 | t0001 | g0007 | AFR | GWD | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG02630 | hp1 | a0001 | c0001 | t0002 | g0001 | AFR | GWD | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG02630 | hp2 | a0001 | c0001 | t0002 | g0029 | AFR | GWD | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG02647 | hp1 | a0001 | c0001 | t0002 | g0001 | AFR | GWD | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG02717 | hp1 | a0001 | c0001 | t0002 | g0001 | AFR | GWD | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG02723 | hp1 | a0001 | c0001 | t0001 | g0019 | AFR | GWD | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG02723 | hp2 | a0001 | c0001 | t0002 | g0001 | AFR | GWD | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG02809 | hp1 | a0001 | c0001 | t0001 | g0005 | AFR | GWD | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG02809 | hp2 | a0001 | c0001 | t0002 | g0001 | AFR | GWD | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG02818 | hp1 | a0001 | c0001 | t0001 | g0003 | AFR | GWD | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG02818 | hp2 | a0001 | c0001 | t0001 | g0003 | AFR | GWD | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG02886 | hp1 | a0001 | c0001 | t0001 | g0002 | AFR | GWD | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG02886 | hp2 | a0001 | c0001 | t0002 | g0001 | AFR | GWD | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG02895 | hp1 | a0001 | c0001 | t0002 | g0001 | AFR | GWD | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG02897 | hp1 | a0001 | c0001 | t0001 | g0005 | AFR | GWD | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG02897 | hp2 | a0001 | c0001 | t0002 | g0001 | AFR | GWD | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG02965 | hp1 | a0001 | c0001 | t0001 | g0005 | AFR | ESN | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG02970 | hp1 | a0001 | c0001 | t0002 | g0001 | AFR | ESN | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG02970 | hp2 | a0002 | c0003 | t0001 | g0008 | AFR | ESN | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG02976 | hp1 | a0001 | c0004 | t0002 | g0028 | AFR | ESN | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG02976 | hp2 | a0001 | c0001 | t0001 | g0005 | AFR | ESN | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG03041 | hp1 | a0001 | c0001 | t0002 | g0001 | AFR | GWD | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG03041 | hp2 | a0001 | c0001 | t0001 | g0003 | AFR | GWD | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG03098 | hp1 | a0002 | c0003 | t0001 | g0008 | AFR | MSL | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG03130 | hp1 | a0001 | c0001 | t0001 | g0007 | AFR | ESN | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG03195 | hp1 | a0001 | c0001 | t0001 | g0003 | AFR | ESN | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG03195 | hp2 | a0001 | c0001 | t0002 | g0001 | AFR | ESN | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG03209 | hp1 | a0002 | c0003 | t0001 | g0008 | AFR | MSL | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG03225 | hp1 | a0001 | c0001 | t0002 | g0001 | AFR | MSL | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG03239 | hp1 | a0001 | c0001 | t0001 | g0002 | SAS | PJL | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG03239 | hp2 | a0001 | c0001 | t0001 | g0003 | SAS | PJL | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG03453 | hp1 | a0001 | c0001 | t0002 | g0001 | AFR | MSL | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG03453 | hp2 | a0001 | c0001 | t0002 | g0001 | AFR | MSL | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG03486 | hp1 | a0001 | c0001 | t0002 | g0001 | AFR | MSL | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG03486 | hp2 | a0001 | c0001 | t0002 | g0001 | AFR | MSL | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG03490 | hp1 | a0001 | c0002 | t0002 | g0032 | SAS | PJL | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG03492 | hp1 | a0001 | c0001 | t0002 | g0001 | SAS | PJL | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG03516 | hp1 | a0001 | c0001 | t0002 | g0001 | AFR | ESN | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG03516 | hp2 | a0001 | c0001 | t0001 | g0005 | AFR | ESN | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG03579 | hp1 | a0001 | c0001 | t0001 | g0005 | AFR | MSL | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG03654 | hp1 | a0001 | c0002 | t0002 | g0004 | SAS | PJL | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG03688 | hp1 | a0001 | c0001 | t0002 | g0001 | SAS | STU | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG03704 | hp1 | a0001 | c0001 | t0001 | g0002 | SAS | PJL | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG03704 | hp2 | a0001 | c0001 | t0001 | g0003 | SAS | PJL | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG03831 | hp1 | a0001 | c0001 | t0001 | g0002 | SAS | BEB | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG03831 | hp2 | a0001 | c0001 | t0001 | g0002 | SAS | BEB | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG03834 | hp1 | a0001 | c0001 | t0001 | g0002 | SAS | BEB | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG03834 | hp2 | a0001 | c0001 | t0002 | g0001 | SAS | BEB | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG03942 | hp1 | a0001 | c0001 | t0001 | g0002 | SAS | BEB | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG04199 | hp1 | a0001 | c0002 | t0002 | g0004 | SAS | STU | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG04204 | hp1 | a0001 | c0001 | t0001 | g0002 | SAS | STU | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG04228 | hp1 | a0001 | c0001 | t0001 | g0002 | SAS | STU | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| NA18522 | hp1 | a0001 | c0001 | t0001 | g0005 | AFR | YRI | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| NA18747 | hp1 | a0001 | c0002 | t0002 | g0004 | EAS | CHB | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| NA18943 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| NA18944 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| NA18945 | hp1 | a0001 | c0001 | t0001 | g0022 | EAS | JPT | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| NA18948 | hp1 | a0011 | c0014 | t0001 | g0024 | EAS | JPT | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| NA18960 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| NA18962 | hp1 | a0001 | c0001 | t0002 | g0001 | EAS | JPT | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| NA18966 | hp1 | a0001 | c0002 | t0002 | g0004 | EAS | JPT | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| NA18968 | hp1 | a0013 | c0018 | t0004 | g0011 | EAS | JPT | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| NA18968 | hp2 | a0004 | c0007 | t0001 | g0014 | EAS | JPT | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| NA18970 | hp1 | a0001 | c0001 | t0001 | g0020 | EAS | JPT | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| NA18971 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| NA18977 | hp1 | a0001 | c0002 | t0002 | g0004 | EAS | JPT | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| NA18979 | hp1 | a0001 | c0001 | t0002 | g0001 | EAS | JPT | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| NA18979 | hp2 | a0001 | c0001 | t0006 | g0021 | EAS | JPT | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| NA18981 | hp1 | a0005 | c0011 | t0005 | g0023 | EAS | JPT | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| NA18981 | hp2 | a0001 | c0002 | t0002 | g0004 | EAS | JPT | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| NA18982 | hp1 | a0003 | c0015 | t0002 | g0034 | EAS | JPT | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| NA18983 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| NA18986 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| NA18992 | hp1 | a0001 | c0001 | t0002 | g0001 | EAS | JPT | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| NA18992 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| NA19000 | hp1 | a0001 | c0001 | t0002 | g0001 | EAS | JPT | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| NA19002 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| NA19002 | hp2 | a0001 | c0002 | t0002 | g0004 | EAS | JPT | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| NA19007 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| NA19030 | hp1 | a0002 | c0003 | t0002 | g0010 | AFR | LWK | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| NA19030 | hp2 | a0007 | c0009 | t0001 | g0016 | AFR | LWK | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| NA19043 | hp1 | a0001 | c0001 | t0001 | g0002 | AFR | LWK | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| NA19070 | hp1 | a0012 | c0016 | t0001 | g0025 | EAS | JPT | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| NA19079 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| NA19085 | hp1 | a0001 | c0002 | t0002 | g0004 | EAS | JPT | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| NA19090 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| NA19090 | hp2 | a0001 | c0001 | t0003 | g0006 | EAS | JPT | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| NA19091 | hp1 | a0006 | c0010 | t0001 | g0018 | EAS | JPT | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| NA19240 | hp1 | a0001 | c0001 | t0001 | g0003 | AFR | YRI | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| NA19240 | hp2 | a0001 | c0001 | t0002 | g0001 | AFR | YRI | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| NA20752 | hp1 | a0001 | c0001 | t0002 | g0001 | EUR | TSI | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| NA20805 | hp1 | a0001 | c0001 | t0001 | g0002 | EUR | TSI | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| NA20905 | hp1 | a0001 | c0001 | t0002 | g0001 | SAS | GIH | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG02109 | hp1 | a0001 | c0001 | t0002 | g0001 | AFR | ACB | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG02109 | hp2 | a0001 | c0001 | t0003 | g0006 | AFR | ACB | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG02486 | hp1 | a0001 | c0001 | t0001 | g0005 | AFR | ACB | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG03471 | hp1 | a0001 | c0001 | t0001 | g0005 | AFR | MSL | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG06807 | hp1 | a0001 | c0001 | t0001 | g0003 | AFR | USA | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| HG06807 | hp2 | a0008 | c0012 | t0002 | g0033 | AFR | USA | CT47A4_chrX_120962886_120976208 | CT47A4 | chrX | 120962886 | 120976208 |
| 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:120969223
|
GT | G | 1 | a0005 | 1 | NA18981.hp1 | frameshift_variant | HIGH | c.839delA | p.Asn280fs | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 2/3 | 1098/1298 | 839/867 | 280/288 | chrX | 120969223 | ||
| chrX:120969282
|
C | G | 1 | a0006 | 1 | NA19091.hp1 | missense_variant | MODERATE | c.781G>C | p.Ala261Pro | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 2/3 | 1040/1298 | 781/867 | 261/288 | chrX | 120969282 | ||
| chrX:120970232
|
C | T | 1 | a0007 | 1 | NA19030.hp2 | missense_variant | MODERATE | c.718G>A | p.Ala240Thr | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 1/3 | 977/1298 | 718/867 | 240/288 | chrX | 120970232 | ||
| chrX:120970319
|
G | C | 1 | a0002 | 5 | HG02572.hp1 HG02970.hp2 HG03098.hp1 others(2): Show |
missense_variant | MODERATE | c.631C>G | p.Pro211Ala | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 1/3 | 890/1298 | 631/867 | 211/288 | chrX | 120970319 | ||
| chrX:120970321
|
T | TC | 1 | a0013 | 1 | NA18968.hp1 | frameshift_variant | HIGH | c.628dupG | p.Glu210fs | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 1/3 | 887/1298 | 628/867 | 210/288 | chrX | 120970321 | ||
| chrX:120970356
|
AG | A | 1 | a0013 | 1 | NA18968.hp1 | frameshift_variant | HIGH | c.593delC | p.Pro198fs | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 1/3 | 852/1298 | 593/867 | 198/288 | chrX | 120970356 | ||
| chrX:120970408
|
C | CG | 1 | a0004 | 1 | NA18968.hp2 | frameshift_variant | HIGH | c.541dupC | p.Arg181fs | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 1/3 | 800/1298 | 541/867 | 181/288 | chrX | 120970408 | ||
| chrX:120970417
|
GC | G | 1 | a0012 | 1 | NA19070.hp1 | frameshift_variant | HIGH | c.532delG | p.Ala178fs | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 1/3 | 791/1298 | 532/867 | 178/288 | chrX | 120970417 | ||
| chrX:120970450
|
G | C | 1 | a0008 | 1 | HG06807.hp2 | missense_variant | MODERATE | c.500C>G | p.Pro167Arg | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 1/3 | 759/1298 | 500/867 | 167/288 | chrX | 120970450 | ||
| chrX:120970477
|
G | A | 1 | a0009 | 1 | HG00741.hp2 | missense_variant | MODERATE | c.473C>T | p.Ala158Val | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 1/3 | 732/1298 | 473/867 | 158/288 | chrX | 120970477 | ||
| chrX:120970605
|
C | CG | 1 | a0010 | 1 | HG00544.hp2 | frameshift_variant | HIGH | c.344dupC | p.Ala116fs | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 1/3 | 603/1298 | 344/867 | 115/288 | chrX | 120970605 | ||
| chrX:120970613
|
G | GA | 1 | a0011 | 1 | NA18948.hp1 | frameshift_variant | HIGH | c.336dupT | p.Arg113fs | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 1/3 | 595/1298 | 336/867 | 112/288 | chrX | 120970613 | ||
| chrX:120970648
|
T | C | 1 | a0013 | 1 | NA18968.hp1 | missense_variant | MODERATE | c.302A>G | p.Glu101Gly | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 1/3 | 561/1298 | 302/867 | 101/288 | chrX | 120970648 | ||
| chrX:120970682
|
C | CG | 1 | a0013 | 1 | NA18968.hp1 | frameshift_variant | HIGH | c.267dupC | p.Ala90fs | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 1/3 | 526/1298 | 267/867 | 89/288 | chrX | 120970682 | ||
| chrX:120970715
|
C | CAG | 1 | a0013 | 1 | NA18968.hp1 | frameshift_variant | HIGH | c.234_235insCT | p.Gly79fs | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 1/3 | 493/1298 | 234/867 | 78/288 | chrX | 120970715 | ||
| chrX:120970720
|
CG | C | 1 | a0003 | 1 | NA18982.hp1 | frameshift_variant | HIGH | c.229delC | p.Arg77fs | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 1/3 | 488/1298 | 229/867 | 77/288 | chrX | 120970720 | ||
| chrX:120970770
|
G | GC | 1 | a0012 | 1 | NA19070.hp1 | frameshift_variant | HIGH | c.179dupG | p.Leu61fs | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 1/3 | 438/1298 | 179/867 | 60/288 | chrX | 120970770 | ||
| chrX:120970813
|
A | AC | 1 | a0013 | 1 | NA18968.hp1 | frameshift_variant | HIGH | c.136dupG | p.Val46fs | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 1/3 | 395/1298 | 136/867 | 46/288 | chrX | 120970813 | ||
| chrX:120970909
|
TG | T | 1 | a0013 | 1 | NA18968.hp1 | frameshift_variant | HIGH | c.40delC | p.Gln14fs | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 1/3 | 299/1298 | 40/867 | 14/288 | chrX | 120970909 | ||
| chrX:120970933
|
T | TC | 1 | a0013 | 1 | NA18968.hp1 | frameshift_variant | HIGH | c.16dupG | p.Asp6fs | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 1/3 | 275/1298 | 16/867 | 6/288 | chrX | 120970933 |
| 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:120969229
|
C | T | 1 | a0001c0008 | 1 | HG01258.hp1 | synonymous_variant | LOW | c.834G>A | p.Ala278Ala | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 2/3 | 1093/1298 | 834/867 | 278/288 | chrX | 120969229 | ||
| chrX:120970251
|
C | T | 1 | a0001c0008 | 1 | HG01258.hp1 | synonymous_variant | LOW | c.699G>A | p.Pro233Pro | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 1/3 | 958/1298 | 699/867 | 233/288 | chrX | 120970251 | ||
| chrX:120970335
|
G | C | 2 | a0001c0002a0003c0015 | 17 | HG01346.hp2 HG01361.hp2 HG02080.hp1 others(14): Show |
synonymous_variant | LOW | c.615C>G | p.Ala205Ala | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 1/3 | 874/1298 | 615/867 | 205/288 | chrX | 120970335 | ||
| chrX:120970626
|
C | T | 1 | a0001c0005 | 1 | HG02027.hp1 | synonymous_variant | LOW | c.324G>A | p.Ala108Ala | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 1/3 | 583/1298 | 324/867 | 108/288 | chrX | 120970626 | ||
| chrX:120970716
|
G | C | 1 | a0013c0018 | 1 | NA18968.hp1 | synonymous_variant | LOW | c.234C>G | p.Gly78Gly | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 1/3 | 493/1298 | 234/867 | 78/288 | chrX | 120970716 | ||
| chrX:120970869
|
C | T | 1 | a0001c0004 | 1 | HG02976.hp1 | synonymous_variant | LOW | c.81G>A | p.Ala27Ala | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 1/3 | 340/1298 | 81/867 | 27/288 | chrX | 120970869 | ||
| chrX:120970932
|
G | A | 1 | a0001c0017 | 1 | HG00140.hp1 | synonymous_variant | LOW | c.18C>T | p.Asp6Asp | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 1/3 | 277/1298 | 18/867 | 6/288 | chrX | 120970932 |
| 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:120967895
|
AT | A | 1 | a0001c0001t0006 | 1 | NA18979.hp2 | 3_prime_UTR_variant | MODIFIER | c.*162delA | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 3/3 | 1300 | chrX | 120967895 | |||||
| chrX:120967916
|
A | AT | 1 | a0005c0011t0005 | 1 | NA18981.hp1 | 3_prime_UTR_variant | MODIFIER | c.*141dupA | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 3/3 | 1279 | chrX | 120967916 | |||||
| chrX:120967923
|
AAC | A | 1 | a0001c0001t0006 | 1 | NA18979.hp2 | 3_prime_UTR_variant | MODIFIER | c.*133_*134delGT | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 3/3 | 1271 | chrX | 120967923 | |||||
| chrX:120967926
|
T | C | 1 | a0001c0001t0006 | 1 | NA18979.hp2 | 3_prime_UTR_variant | MODIFIER | c.*132A>G | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 3/3 | 1270 | chrX | 120967926 | |||||
| chrX:120967945
|
T | TC | 1 | a0001c0001t0006 | 1 | NA18979.hp2 | 3_prime_UTR_variant | MODIFIER | c.*112dupG | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 3/3 | 1250 | chrX | 120967945 | |||||
| chrX:120967994
|
TG | T | 2 | a0001c0001t0006a0005c0011t0005 | 2 | NA18979.hp2 NA18981.hp1 |
3_prime_UTR_variant | MODIFIER | c.*63delC | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 3/3 | 1201 | chrX | 120967994 | |||||
| chrX:120970993
|
G | T | 1 | a0013c0018t0004 | 1 | NA18968.hp1 | 5_prime_UTR_variant | MODIFIER | c.-44C>A | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 1/3 | 44 | chrX | 120970993 | |||||
| chrX:120971052
|
G | GC | 1 | a0013c0018t0004 | 1 | NA18968.hp1 | 5_prime_UTR_variant | MODIFIER | c.-104dupG | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 1/3 | 104 | chrX | 120971052 | |||||
| chrX:120971064
|
A | G | 2 | a0001c0001t0003a0009c0013t0003 | 8 | HG00741.hp2 HG01106.hp1 HG01175.hp2 others(5): Show |
5_prime_UTR_variant | MODIFIER | c.-115T>C | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 1/3 | 115 | chrX | 120971064 | |||||
| chrX:120971084
|
TG | T | 1 | a0013c0018t0004 | 1 | NA18968.hp1 | 5_prime_UTR_variant | MODIFIER | c.-136delC | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 1/3 | 136 | chrX | 120971084 | |||||
| chrX:120971205
|
T | C | 8 | a0001c0001t0002a0001c0001t0003a0001c0002t0002others(5): Show | 73 | HG00544.hp1 HG00673.hp1 HG00741.hp2 others(70): Show |
5_prime_UTR_variant | MODIFIER | c.-256A>G | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 1/3 | 256 | chrX | 120971205 |
| 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:120968080
|
G | A | 26 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(23): Show | 119 | HG00140.hp1 HG00544.hp1 HG00544.hp2 others(116): Show |
intron_variant | MODIFIER | c.*32-54C>T | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 2/2 | chrX | 120968080 | ||||||
| chrX:120968138
|
A | G | 1 | a0001c0001t0001g0019 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.*32-112T>C | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 2/2 | chrX | 120968138 | ||||||
| chrX:120968201
|
T | TA | 1 | a0001c0001t0006g0021 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.*32-176dupT | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 2/2 | chrX | 120968201 | ||||||
| chrX:120968234
|
TA | T | 1 | a0001c0001t0006g0021 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.*32-209delT | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 2/2 | chrX | 120968234 | ||||||
| chrX:120968278
|
T | TG | 1 | a0001c0001t0006g0021 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.*32-253_*32-252ins others(1): Show |
CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 2/2 | chrX | 120968278 | ||||||
| chrX:120968386
|
CA | C | 1 | a0001c0001t0006g0021 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.*32-361delT | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 2/2 | chrX | 120968386 | ||||||
| chrX:120968403
|
TC | T | 1 | a0001c0001t0006g0021 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.*32-378delG | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 2/2 | chrX | 120968403 | ||||||
| chrX:120968440
|
GT | G | 1 | a0001c0001t0006g0021 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.*32-415delA | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 2/2 | chrX | 120968440 | ||||||
| chrX:120968446
|
G | A | 1 | a0001c0001t0002g0030 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.*32-420C>T | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 2/2 | chrX | 120968446 | ||||||
| chrX:120968471
|
G | A | 1 | a0001c0002t0002g0032 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.*32-445C>T | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 2/2 | chrX | 120968471 | ||||||
| chrX:120968503
|
TA | T | 1 | a0001c0001t0006g0021 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.*32-478delT | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 2/2 | chrX | 120968503 | ||||||
| chrX:120968522
|
GA | G | 1 | a0001c0001t0006g0021 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.*32-497delT | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 2/2 | chrX | 120968522 | ||||||
| chrX:120968559
|
TG | T | 1 | a0001c0001t0006g0021 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.*32-534delC | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 2/2 | chrX | 120968559 | ||||||
| chrX:120968667
|
TA | T | 1 | a0001c0001t0006g0021 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.*31+497delT | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 2/2 | chrX | 120968667 | ||||||
| chrX:120968669
|
AT | A | 1 | a0005c0011t0005g0023 | 1 | NA18981.hp1 | intron_variant | MODIFIER | c.*31+495delA | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 2/2 | chrX | 120968669 | ||||||
| chrX:120968670
|
T | C | 10 | a0001c0001t0001g0003a0001c0001t0001g0009a0001c0001t0001g0022others(7): Show | 29 | HG00140.hp1 HG00544.hp2 HG00558.hp1 others(26): Show |
intron_variant | MODIFIER | c.*31+495A>G | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 2/2 | chrX | 120968670 | ||||||
| chrX:120968731
|
T | G | 1 | a0001c0001t0001g0020 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.*31+434A>C | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 2/2 | chrX | 120968731 | ||||||
| chrX:120968953
|
A | G | 5 | a0001c0001t0001g0009a0001c0001t0001g0022a0001c0001t0006g0021others(2): Show | 6 | HG00544.hp2 HG00558.hp1 HG00597.hp1 others(3): Show |
intron_variant | MODIFIER | c.*31+212T>C | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 2/2 | chrX | 120968953 | ||||||
| chrX:120969373
|
GC | G | 1 | a0005c0011t0005g0023 | 1 | NA18981.hp1 | intron_variant | MODIFIER | c.743-54delG | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 1/2 | chrX | 120969373 | ||||||
| chrX:120969562
|
AC | A | 1 | a0005c0011t0005g0023 | 1 | NA18981.hp1 | intron_variant | MODIFIER | c.743-243delG | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 1/2 | chrX | 120969562 | ||||||
| chrX:120969724
|
T | C | 11 | a0001c0001t0001g0003a0001c0001t0001g0009a0001c0001t0001g0022others(8): Show | 30 | HG00140.hp1 HG00544.hp2 HG00558.hp1 others(27): Show |
intron_variant | MODIFIER | c.743-404A>G | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 1/2 | chrX | 120969724 | ||||||
| chrX:120969853
|
T | G | 1 | a0001c0001t0001g0007 | 3 | HG02258.hp1 HG02622.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.742+355A>C | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 1/2 | chrX | 120969853 | ||||||
| chrX:120969863
|
CT | C | 1 | a0012c0016t0001g0025 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.742+344delA | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 1/2 | chrX | 120969863 | ||||||
| chrX:120970087
|
C | T | 1 | a0001c0002t0002g0031 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.742+121G>A | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 1/2 | chrX | 120970087 | ||||||
| chrX:120970091
|
GC | G | 1 | a0013c0018t0004g0011 | 1 | NA18968.hp1 | intron_variant | MODIFIER | c.742+116delG | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 1/2 | chrX | 120970091 | ||||||
| chrX:120970097
|
A | AC | 1 | a0011c0014t0001g0024 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.742+110dupG | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 1/2 | chrX | 120970097 | ||||||
| chrX:120970125
|
T | TA | 1 | a0013c0018t0004g0011 | 1 | NA18968.hp1 | intron_variant | MODIFIER | c.742+82dupT | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 1/2 | chrX | 120970125 | ||||||
| chrX:120970153
|
C | CT | 1 | a0013c0018t0004g0011 | 1 | NA18968.hp1 | intron_variant | MODIFIER | c.742+54_742+55insA | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 1/2 | chrX | 120970153 | ||||||
| chrX:120970155
|
C | T | 1 | a0001c0001t0001g0017 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.742+53G>A | CT47A4 | ENSG00000230594.3 | transcript | ENST00000415858.3 | protein_coding | 1/2 | chrX | 120970155 |