| geneid | 100132994 |
|---|---|
| ensemblid | ENSG00000215113.7 |
| hgncid | 34229 |
| symbol | CXorf49B |
| name | chromosome X open reading frame 49B |
| refseq_nuc | NM_001145139.2 |
| refseq_prot | NP_001138611.1 |
| ensembl_nuc | ENST00000542739.3 |
| ensembl_prot | ENSP00000482270.1 |
| mane_status | MANE Select |
| chr | chrX |
| start | 71763349 |
| end | 71767204 |
| strand | + |
| ver | v1.2 |
| region | chrX:71763349-71767204 |
| region5000 | chrX:71758349-71772204 |
| regionname0 | CXorf49B_chrX_71763349_71767204 |
| regionname5000 | CXorf49B_chrX_71758349_71772204 |
| 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 | 514 | 59 | 12 | 18 | 14 | 7 | 8 | 8 | CXorf49B_chrX_71758349_71772204 | CXorf49B | copy fasta | chrX | 71758349 | 71772204 |
| a0002 | 0/0 | 514 | 19 | 8 | 2 | 7 | 0 | 2 | 6 | CXorf49B_chrX_71758349_71772204 | CXorf49B | copy fasta | chrX | 71758349 | 71772204 |
| a0003 | 0/0 | 514 | 10 | 4 | 1 | 3 | 0 | 2 | 2 | CXorf49B_chrX_71758349_71772204 | CXorf49B | copy fasta | chrX | 71758349 | 71772204 |
| a0004 | 0/0 | 514 | 2 | 0 | 0 | 2 | 0 | 0 | 2 | CXorf49B_chrX_71758349_71772204 | CXorf49B | copy fasta | chrX | 71758349 | 71772204 |
| a0005 | 0/0 | 500 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CXorf49B_chrX_71758349_71772204 | CXorf49B | copy fasta | chrX | 71758349 | 71772204 |
| a0006 | 0/0 | 514 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CXorf49B_chrX_71758349_71772204 | CXorf49B | copy fasta | chrX | 71758349 | 71772204 |
| a0007 | 0/0 | 514 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CXorf49B_chrX_71758349_71772204 | CXorf49B | copy fasta | chrX | 71758349 | 71772204 |
| a0008 | 0/0 | 514 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CXorf49B_chrX_71758349_71772204 | CXorf49B | copy fasta | chrX | 71758349 | 71772204 |
| a0009 | 0/0 | 65 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CXorf49B_chrX_71758349_71772204 | CXorf49B | copy fasta | chrX | 71758349 | 71772204 |
| 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 | 1545 | 56 | 9 | 18 | 14 | 7 | 8 | CXorf49B_chrX_71758349_71772204 | CXorf49B | copy fasta | chrX | 71758349 | 71772204 |
| c0002 | 0/0 | 1545 | 19 | 8 | 2 | 7 | 0 | 2 | CXorf49B_chrX_71758349_71772204 | CXorf49B | copy fasta | chrX | 71758349 | 71772204 |
| c0003 | 0/0 | 1545 | 10 | 4 | 1 | 3 | 0 | 2 | CXorf49B_chrX_71758349_71772204 | CXorf49B | copy fasta | chrX | 71758349 | 71772204 |
| c0004 | 0/0 | 1545 | 3 | 3 | 0 | 0 | 0 | 0 | CXorf49B_chrX_71758349_71772204 | CXorf49B | copy fasta | chrX | 71758349 | 71772204 |
| c0005 | 0/0 | 1545 | 2 | 0 | 0 | 2 | 0 | 0 | CXorf49B_chrX_71758349_71772204 | CXorf49B | copy fasta | chrX | 71758349 | 71772204 |
| c0006 | 0/0 | 1545 | 1 | 1 | 0 | 0 | 0 | 0 | CXorf49B_chrX_71758349_71772204 | CXorf49B | copy fasta | chrX | 71758349 | 71772204 |
| c0007 | 0/0 | 1546 | 1 | 0 | 0 | 1 | 0 | 0 | CXorf49B_chrX_71758349_71772204 | CXorf49B | copy fasta | chrX | 71758349 | 71772204 |
| c0008 | 0/0 | 1545 | 1 | 1 | 0 | 0 | 0 | 0 | CXorf49B_chrX_71758349_71772204 | CXorf49B | copy fasta | chrX | 71758349 | 71772204 |
| c0009 | 0/0 | 1544 | 1 | 0 | 0 | 1 | 0 | 0 | CXorf49B_chrX_71758349_71772204 | CXorf49B | copy fasta | chrX | 71758349 | 71772204 |
| c0010 | 0/0 | 1545 | 1 | 0 | 0 | 1 | 0 | 0 | CXorf49B_chrX_71758349_71772204 | CXorf49B | copy fasta | chrX | 71758349 | 71772204 |
| 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 | 250 | 95 | 26 | 21 | 29 | 7 | 12 | CXorf49B_chrX_71758349_71772204 | CXorf49B | copy fasta | chrX | 71758349 | 71772204 |
| 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 | 80 | 20 | 18 | 24 | 6 | 12 | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| g0002 | 0/0 | 3 | 2 | 1 | 0 | 0 | 0 | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| g0003 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| g0004 | 0/0 | 2 | 0 | 1 | 0 | 1 | 0 | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| g0005 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| g0009 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| 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 | 1545 | 56 | 9 | 18 | 14 | 7 | 8 | CXorf49B_chrX_71758349_71772204 | CXorf49B | copy fasta | chrX | 71758349 | 71772204 |
| a0001c0004 | 0/0 | 1545 | 3 | 3 | 0 | 0 | 0 | 0 | CXorf49B_chrX_71758349_71772204 | CXorf49B | copy fasta | chrX | 71758349 | 71772204 |
| a0002c0002 | 0/0 | 1545 | 19 | 8 | 2 | 7 | 0 | 2 | CXorf49B_chrX_71758349_71772204 | CXorf49B | copy fasta | chrX | 71758349 | 71772204 |
| a0003c0003 | 0/0 | 1545 | 10 | 4 | 1 | 3 | 0 | 2 | CXorf49B_chrX_71758349_71772204 | CXorf49B | copy fasta | chrX | 71758349 | 71772204 |
| a0004c0005 | 0/0 | 1545 | 2 | 0 | 0 | 2 | 0 | 0 | CXorf49B_chrX_71758349_71772204 | CXorf49B | copy fasta | chrX | 71758349 | 71772204 |
| a0005c0009 | 0/0 | 1544 | 1 | 0 | 0 | 1 | 0 | 0 | CXorf49B_chrX_71758349_71772204 | CXorf49B | copy fasta | chrX | 71758349 | 71772204 |
| a0006c0010 | 0/0 | 1545 | 1 | 0 | 0 | 1 | 0 | 0 | CXorf49B_chrX_71758349_71772204 | CXorf49B | copy fasta | chrX | 71758349 | 71772204 |
| a0007c0006 | 0/0 | 1545 | 1 | 1 | 0 | 0 | 0 | 0 | CXorf49B_chrX_71758349_71772204 | CXorf49B | copy fasta | chrX | 71758349 | 71772204 |
| a0008c0008 | 0/0 | 1545 | 1 | 1 | 0 | 0 | 0 | 0 | CXorf49B_chrX_71758349_71772204 | CXorf49B | copy fasta | chrX | 71758349 | 71772204 |
| a0009c0007 | 0/0 | 1546 | 1 | 0 | 0 | 1 | 0 | 0 | CXorf49B_chrX_71758349_71772204 | CXorf49B | copy fasta | chrX | 71758349 | 71772204 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 1794 | 56 | 9 | 18 | 14 | 7 | 8 | CXorf49B_chrX_71758349_71772204 | CXorf49B | copy fasta | chrX | 71758349 | 71772204 |
| a0001c0004t0001 | 0/0 | 1794 | 3 | 3 | 0 | 0 | 0 | 0 | CXorf49B_chrX_71758349_71772204 | CXorf49B | copy fasta | chrX | 71758349 | 71772204 |
| a0002c0002t0001 | 0/0 | 1794 | 19 | 8 | 2 | 7 | 0 | 2 | CXorf49B_chrX_71758349_71772204 | CXorf49B | copy fasta | chrX | 71758349 | 71772204 |
| a0003c0003t0001 | 0/0 | 1794 | 10 | 4 | 1 | 3 | 0 | 2 | CXorf49B_chrX_71758349_71772204 | CXorf49B | copy fasta | chrX | 71758349 | 71772204 |
| a0004c0005t0001 | 0/0 | 1794 | 2 | 0 | 0 | 2 | 0 | 0 | CXorf49B_chrX_71758349_71772204 | CXorf49B | copy fasta | chrX | 71758349 | 71772204 |
| a0005c0009t0001 | 0/0 | 1793 | 1 | 0 | 0 | 1 | 0 | 0 | CXorf49B_chrX_71758349_71772204 | CXorf49B | copy fasta | chrX | 71758349 | 71772204 |
| a0006c0010t0001 | 0/0 | 1794 | 1 | 0 | 0 | 1 | 0 | 0 | CXorf49B_chrX_71758349_71772204 | CXorf49B | copy fasta | chrX | 71758349 | 71772204 |
| a0007c0006t0001 | 0/0 | 1794 | 1 | 1 | 0 | 0 | 0 | 0 | CXorf49B_chrX_71758349_71772204 | CXorf49B | copy fasta | chrX | 71758349 | 71772204 |
| a0008c0008t0001 | 0/0 | 1794 | 1 | 1 | 0 | 0 | 0 | 0 | CXorf49B_chrX_71758349_71772204 | CXorf49B | copy fasta | chrX | 71758349 | 71772204 |
| a0009c0007t0001 | 0/0 | 1795 | 1 | 0 | 0 | 1 | 0 | 0 | CXorf49B_chrX_71758349_71772204 | CXorf49B | copy fasta | chrX | 71758349 | 71772204 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 0/0 | 51 | 8 | 16 | 13 | 6 | 8 | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| a0001c0001t0001g0004 | 0/0 | 2 | 0 | 1 | 0 | 1 | 0 | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| a0001c0001t0001g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| a0001c0001t0001g0009 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| a0001c0001t0001g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| a0001c0004t0001g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| a0001c0004t0001g0005 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| a0002c0002t0001g0001 | 0/0 | 16 | 6 | 1 | 7 | 0 | 2 | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| a0002c0002t0001g0002 | 0/0 | 3 | 2 | 1 | 0 | 0 | 0 | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| a0003c0003t0001g0001 | 0/0 | 10 | 4 | 1 | 3 | 0 | 2 | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| a0004c0005t0001g0003 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| a0005c0009t0001g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| a0006c0010t0001g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| a0007c0006t0001g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| a0008c0008t0001g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| a0009c0007t0001g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0001 | t0001 | g0004 | EUR | GBR | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG00099 | hp2 | a0001 | c0001 | t0001 | g0001 | EUR | GBR | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG00280 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | FIN | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG00621 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG00642 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG00738 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG00741 | hp1 | a0002 | c0002 | t0001 | g0002 | AMR | PUR | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG00741 | hp2 | a0001 | c0001 | t0001 | g0009 | AMR | PUR | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG01071 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG01071 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG01081 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG01081 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG01106 | hp1 | a0001 | c0001 | t0001 | g0004 | AMR | PUR | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG01168 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG01168 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG01346 | hp1 | a0003 | c0003 | t0001 | g0001 | AMR | CLM | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG01346 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG01515 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | IBS | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG01516 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | IBS | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG01516 | hp2 | a0001 | c0001 | t0001 | g0001 | EUR | IBS | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG01928 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG01934 | hp1 | a0002 | c0002 | t0001 | g0001 | AMR | PEL | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG02004 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG02004 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG02040 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG02071 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG02074 | hp1 | a0002 | c0002 | t0001 | g0001 | EAS | KHV | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG02135 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG02165 | hp1 | a0003 | c0003 | t0001 | g0001 | EAS | CDX | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG02165 | hp2 | a0001 | c0001 | t0001 | g0008 | EAS | CDX | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG02280 | hp1 | a0007 | c0006 | t0001 | g0001 | AFR | ACB | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG02280 | hp2 | a0002 | c0002 | t0001 | g0001 | AFR | ACB | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG02293 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG02293 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG02683 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG02683 | hp2 | a0003 | c0003 | t0001 | g0001 | SAS | PJL | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG02723 | hp1 | a0003 | c0003 | t0001 | g0001 | AFR | GWD | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG02723 | hp2 | a0001 | c0004 | t0001 | g0005 | AFR | GWD | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG02735 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG02809 | hp1 | a0002 | c0002 | t0001 | g0001 | AFR | GWD | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG02809 | hp2 | a0002 | c0002 | t0001 | g0002 | AFR | GWD | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG02895 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG02970 | hp1 | a0002 | c0002 | t0001 | g0001 | AFR | ESN | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG02970 | hp2 | a0002 | c0002 | t0001 | g0001 | AFR | ESN | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG03225 | hp1 | a0008 | c0008 | t0001 | g0006 | AFR | MSL | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG03453 | hp1 | a0002 | c0002 | t0001 | g0002 | AFR | MSL | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG03453 | hp2 | a0002 | c0002 | t0001 | g0001 | AFR | MSL | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG03486 | hp1 | a0001 | c0004 | t0001 | g0001 | AFR | MSL | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG03486 | hp2 | a0002 | c0002 | t0001 | g0001 | AFR | MSL | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG03516 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ESN | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG03516 | hp2 | a0003 | c0003 | t0001 | g0001 | AFR | ESN | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG03540 | hp1 | a0003 | c0003 | t0001 | g0001 | AFR | GWD | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG03540 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG03654 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG03704 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG03704 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG03831 | hp1 | a0003 | c0003 | t0001 | g0001 | SAS | BEB | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG03831 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | BEB | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG03927 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | BEB | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG03927 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | BEB | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG03942 | hp1 | a0002 | c0002 | t0001 | g0001 | SAS | BEB | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG04204 | hp1 | a0002 | c0002 | t0001 | g0001 | SAS | STU | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| NA18747 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | CHB | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| NA18945 | hp1 | a0002 | c0002 | t0001 | g0001 | EAS | JPT | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| NA18946 | hp1 | a0005 | c0009 | t0001 | g0003 | EAS | JPT | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| NA18946 | hp2 | a0004 | c0005 | t0001 | g0003 | EAS | JPT | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| NA18952 | hp1 | a0004 | c0005 | t0001 | g0003 | EAS | JPT | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| NA18967 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| NA18970 | hp1 | a0003 | c0003 | t0001 | g0001 | EAS | JPT | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| NA18983 | hp1 | a0002 | c0002 | t0001 | g0001 | EAS | JPT | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| NA18984 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| NA18995 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| NA19006 | hp1 | a0009 | c0007 | t0001 | g0007 | EAS | JPT | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| NA19012 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| NA19058 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| NA19063 | hp1 | a0002 | c0002 | t0001 | g0001 | EAS | JPT | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| NA19064 | hp1 | a0002 | c0002 | t0001 | g0001 | EAS | JPT | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| NA19064 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| NA19067 | hp1 | a0002 | c0002 | t0001 | g0001 | EAS | JPT | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| NA19072 | hp1 | a0003 | c0003 | t0001 | g0001 | EAS | JPT | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| NA19085 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| NA19088 | hp2 | a0002 | c0002 | t0001 | g0001 | EAS | JPT | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| NA19089 | hp1 | a0006 | c0010 | t0001 | g0001 | EAS | JPT | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| NA20129 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ASW | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| NA20129 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ASW | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| NA20805 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | TSI | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG01123 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG01123 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG02559 | hp1 | a0001 | c0004 | t0001 | g0005 | AFR | ACB | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG02559 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG06807 | hp1 | a0003 | c0003 | t0001 | g0001 | AFR | USA | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| HG06807 | hp2 | a0001 | c0001 | t0001 | g0010 | AFR | USA | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| NA18955 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| NA21309 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | LWK | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| NA21309 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | LWK | CXorf49B_chrX_71758349_71772204 | CXorf49B | chrX | 71758349 | 71772204 |
| 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:71763431
|
C | T | 3 | a0004a0005a0006 | 4 | NA18946.hp1 NA18946.hp2 NA18952.hp1 others(1): Show |
missense_variant | MODERATE | c.8C>T | p.Ser3Phe | CXorf49B | ENSG00000215113.7 | transcript | ENST00000542739.3 | protein_coding | 1/6 | 83/1795 | 8/1545 | 3/514 | chrX | 71763431 | ||
| chrX:71763453
|
T | G | 1 | a0002 | 19 | HG00741.hp1 HG01934.hp1 HG02074.hp1 others(16): Show |
missense_variant | MODERATE | c.30T>G | p.Cys10Trp | CXorf49B | ENSG00000215113.7 | transcript | ENST00000542739.3 | protein_coding | 1/6 | 105/1795 | 30/1545 | 10/514 | chrX | 71763453 | ||
| chrX:71763575
|
G | A | 1 | a0007 | 1 | HG02280.hp1 | missense_variant | MODERATE | c.152G>A | p.Ser51Asn | CXorf49B | ENSG00000215113.7 | transcript | ENST00000542739.3 | protein_coding | 1/6 | 227/1795 | 152/1545 | 51/514 | chrX | 71763575 | ||
| chrX:71763582
|
C | CG | 1 | a0009 | 1 | NA19006.hp1 | frameshift_variant | HIGH | c.162dupG | p.Phe55fs | CXorf49B | ENSG00000215113.7 | transcript | ENST00000542739.3 | protein_coding | 1/6 | 238/1795 | 163/1545 | 55/514 | INFO_REALIGN_3_PRIME | chrX | 71763582 | |
| chrX:71763851
|
A | G | 1 | a0003 | 10 | HG01346.hp1 HG02165.hp1 HG02683.hp2 others(7): Show |
missense_variant | MODERATE | c.428A>G | p.Asp143Gly | CXorf49B | ENSG00000215113.7 | transcript | ENST00000542739.3 | protein_coding | 1/6 | 503/1795 | 428/1545 | 143/514 | chrX | 71763851 | ||
| chrX:71763899
|
G | C | 2 | a0004a0005 | 3 | NA18946.hp1 NA18946.hp2 NA18952.hp1 |
missense_variant | MODERATE | c.476G>C | p.Arg159Pro | CXorf49B | ENSG00000215113.7 | transcript | ENST00000542739.3 | protein_coding | 1/6 | 551/1795 | 476/1545 | 159/514 | chrX | 71763899 | ||
| chrX:71764268
|
C | T | 1 | a0003 | 10 | HG01346.hp1 HG02165.hp1 HG02683.hp2 others(7): Show |
missense_variant | MODERATE | c.845C>T | p.Pro282Leu | CXorf49B | ENSG00000215113.7 | transcript | ENST00000542739.3 | protein_coding | 1/6 | 920/1795 | 845/1545 | 282/514 | chrX | 71764268 | ||
| chrX:71764421
|
T | C | 3 | a0002a0003a0008 | 30 | HG00741.hp1 HG01346.hp1 HG01934.hp1 others(27): Show |
missense_variant | MODERATE | c.998T>C | p.Leu333Pro | CXorf49B | ENSG00000215113.7 | transcript | ENST00000542739.3 | protein_coding | 1/6 | 1073/1795 | 998/1545 | 333/514 | chrX | 71764421 | ||
| chrX:71765946
|
TC | T | 1 | a0005 | 1 | NA18946.hp1 | frameshift_variant | HIGH | c.1409delC | p.Pro470fs | CXorf49B | ENSG00000215113.7 | transcript | ENST00000542739.3 | protein_coding | 3/6 | 1484/1795 | 1409/1545 | 470/514 | INFO_REALIGN_3_PRIME | chrX | 71765946 |
| 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:71763792
|
C | T | 1 | a0007c0006 | 1 | HG02280.hp1 | synonymous_variant | LOW | c.369C>T | p.Ala123Ala | CXorf49B | ENSG00000215113.7 | transcript | ENST00000542739.3 | protein_coding | 1/6 | 444/1795 | 369/1545 | 123/514 | chrX | 71763792 | ||
| chrX:71764335
|
T | C | 9 | a0001c0001a0002c0002a0003c0003others(6): Show | 92 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(89): Show |
synonymous_variant | LOW | c.912T>C | p.Ala304Ala | CXorf49B | ENSG00000215113.7 | transcript | ENST00000542739.3 | protein_coding | 1/6 | 987/1795 | 912/1545 | 304/514 | chrX | 71764335 |
| 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 |
|---|
| 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:71764796
|
G | A | 1 | a0008c0008t0001g0006 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.1224+149G>A | CXorf49B | ENSG00000215113.7 | transcript | ENST00000542739.3 | protein_coding | 1/5 | chrX | 71764796 | ||||||
| chrX:71764885
|
G | GC | 1 | a0009c0007t0001g0007 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.1224+241dupC | CXorf49B | ENSG00000215113.7 | transcript | ENST00000542739.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | 71764885 | |||||
| chrX:71765167
|
C | G | 1 | a0008c0008t0001g0006 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.1225-57C>G | CXorf49B | ENSG00000215113.7 | transcript | ENST00000542739.3 | protein_coding | 1/5 | chrX | 71765167 | ||||||
| chrX:71765472
|
C | T | 2 | a0004c0005t0001g0003a0005c0009t0001g0003 | 3 | NA18946.hp1 NA18946.hp2 NA18952.hp1 |
intron_variant | MODIFIER | c.1381+92C>T | CXorf49B | ENSG00000215113.7 | transcript | ENST00000542739.3 | protein_coding | 2/5 | chrX | 71765472 | ||||||
| chrX:71765505
|
C | CG | 1 | a0009c0007t0001g0007 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.1381+129dupG | CXorf49B | ENSG00000215113.7 | transcript | ENST00000542739.3 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chrX | 71765505 | |||||
| chrX:71765580
|
C | T | 1 | a0001c0001t0001g0010 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.1381+200C>T | CXorf49B | ENSG00000215113.7 | transcript | ENST00000542739.3 | protein_coding | 2/5 | chrX | 71765580 | ||||||
| chrX:71765780
|
C | CA | 1 | a0009c0007t0001g0007 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.1382-143dupA | CXorf49B | ENSG00000215113.7 | transcript | ENST00000542739.3 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chrX | 71765780 | |||||
| chrX:71766014
|
T | TG | 1 | a0009c0007t0001g0007 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.1458+16dupG | CXorf49B | ENSG00000215113.7 | transcript | ENST00000542739.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | 71766014 | |||||
| chrX:71766063
|
G | GT | 1 | a0001c0001t0001g0009 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.1458+65dupT | CXorf49B | ENSG00000215113.7 | transcript | ENST00000542739.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | 71766063 | |||||
| chrX:71766385
|
T | TG | 1 | a0009c0007t0001g0007 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.1504+62dupG | CXorf49B | ENSG00000215113.7 | transcript | ENST00000542739.3 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | 71766385 | |||||
| chrX:71766489
|
C | G | 1 | a0001c0001t0001g0008 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.1504+161C>G | CXorf49B | ENSG00000215113.7 | transcript | ENST00000542739.3 | protein_coding | 4/5 | chrX | 71766489 | ||||||
| chrX:71766623
|
T | C | 15 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0008others(12): Show | 93 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(90): Show |
intron_variant | MODIFIER | c.1505-260T>C | CXorf49B | ENSG00000215113.7 | transcript | ENST00000542739.3 | protein_coding | 4/5 | chrX | 71766623 | ||||||
| chrX:71766694
|
G | GC | 1 | a0009c0007t0001g0007 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.1505-186dupC | CXorf49B | ENSG00000215113.7 | transcript | ENST00000542739.3 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | 71766694 | |||||
| chrX:71766762
|
T | C | 1 | a0001c0001t0001g0004 | 2 | HG00099.hp1 HG01106.hp1 |
intron_variant | MODIFIER | c.1505-121T>C | CXorf49B | ENSG00000215113.7 | transcript | ENST00000542739.3 | protein_coding | 4/5 | chrX | 71766762 | ||||||
| chrX:71766818
|
C | CG | 1 | a0009c0007t0001g0007 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.1505-61dupG | CXorf49B | ENSG00000215113.7 | transcript | ENST00000542739.3 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | 71766818 | |||||
| chrX:71766819
|
G | A | 1 | a0002c0002t0001g0002 | 3 | HG00741.hp1 HG02809.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.1505-64G>A | CXorf49B | ENSG00000215113.7 | transcript | ENST00000542739.3 | protein_coding | 4/5 | chrX | 71766819 | ||||||
| chrX:71766945
|
G | GC | 1 | a0009c0007t0001g0007 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.*1+25dupC | CXorf49B | ENSG00000215113.7 | transcript | ENST00000542739.3 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chrX | 71766945 |