| geneid | 5822 |
|---|---|
| ensemblid | ENSG00000241945.8 |
| hgncid | 9711 |
| symbol | PWP2 |
| name | PWP2 small subunit processome component |
| refseq_nuc | NM_005049.3 |
| refseq_prot | NP_005040.2 |
| ensembl_nuc | ENST00000291576.12 |
| ensembl_prot | ENSP00000291576.6 |
| mane_status | MANE Select |
| chr | chr21 |
| start | 44107399 |
| end | 44131181 |
| strand | + |
| ver | v1.2 |
| region | chr21:44107399-44131181 |
| region5000 | chr21:44102399-44136181 |
| regionname0 | PWP2_chr21_44107399_44131181 |
| regionname5000 | PWP2_chr21_44102399_44136181 |
| 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 | 919 | 73 | 43 | 8 | 22 | 0 | 0 | 18 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| a0002 | 0/0 | 919 | 5 | 5 | 0 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| a0003 | 0/0 | 919 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| a0004 | 0/0 | 919 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| a0005 | 0/0 | 919 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| a0006 | 0/0 | 919 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| a0007 | 0/0 | 919 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| 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 | 2760 | 36 | 22 | 4 | 10 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| c0002 | 0/0 | 2760 | 28 | 14 | 3 | 11 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| c0003 | 0/0 | 2760 | 5 | 5 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| c0004 | 0/0 | 2760 | 2 | 2 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| c0005 | 0/0 | 2760 | 2 | 1 | 1 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| c0006 | 0/0 | 2760 | 2 | 2 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| c0007 | 0/0 | 2760 | 2 | 2 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| c0008 | 0/0 | 2760 | 1 | 0 | 0 | 1 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| c0009 | 0/0 | 2760 | 1 | 0 | 0 | 1 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| c0010 | 0/0 | 2760 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| c0011 | 0/0 | 2760 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| c0012 | 0/0 | 2760 | 1 | 0 | 0 | 1 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| c0013 | 0/0 | 2760 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| c0014 | 0/0 | 2760 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| 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 | 429 | 44 | 28 | 3 | 13 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| t0002 | 0/0 | 429 | 26 | 13 | 3 | 10 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| t0003 | 0/0 | 429 | 10 | 10 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| t0004 | 0/0 | 425 | 2 | 1 | 1 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| t0005 | 0/0 | 429 | 1 | 0 | 1 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| t0006 | 0/0 | 429 | 1 | 0 | 0 | 1 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| 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 | 13 | 7 | 2 | 4 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| g0002 | 0/0 | 8 | 0 | 1 | 7 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| g0003 | 0/0 | 7 | 7 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| g0004 | 0/0 | 5 | 5 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| g0005 | 0/0 | 3 | 2 | 1 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| g0006 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| g0007 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| g0008 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| g0009 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| g0010 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| g0011 | 0/0 | 2 | 1 | 1 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| g0012 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| g0036 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| g0040 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| 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 | 2760 | 36 | 22 | 4 | 10 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| a0001c0002 | 0/0 | 2760 | 28 | 14 | 3 | 11 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| a0001c0004 | 0/0 | 2760 | 2 | 2 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| a0001c0005 | 0/0 | 2760 | 2 | 1 | 1 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| a0001c0006 | 0/0 | 2760 | 2 | 2 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| a0001c0011 | 0/0 | 2760 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| a0001c0012 | 0/0 | 2760 | 1 | 0 | 0 | 1 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| a0001c0013 | 0/0 | 2760 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| a0002c0003 | 0/0 | 2760 | 5 | 5 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| a0003c0007 | 0/0 | 2760 | 2 | 2 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| a0004c0008 | 0/0 | 2760 | 1 | 0 | 0 | 1 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| a0005c0014 | 0/0 | 2760 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| a0006c0010 | 0/0 | 2760 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| a0007c0009 | 0/0 | 2760 | 1 | 0 | 0 | 1 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 3188 | 35 | 22 | 3 | 10 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| a0001c0001t0005 | 0/0 | 3188 | 1 | 0 | 1 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| a0001c0002t0002 | 0/0 | 3188 | 19 | 6 | 3 | 10 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| a0001c0002t0003 | 0/0 | 3188 | 8 | 8 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| a0001c0002t0006 | 0/0 | 3188 | 1 | 0 | 0 | 1 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| a0001c0004t0003 | 0/0 | 3188 | 2 | 2 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| a0001c0005t0004 | 0/0 | 3184 | 2 | 1 | 1 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| a0001c0006t0001 | 0/0 | 3188 | 2 | 2 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| a0001c0011t0001 | 0/0 | 3188 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| a0001c0012t0001 | 0/0 | 3188 | 1 | 0 | 0 | 1 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| a0001c0013t0001 | 0/0 | 3188 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| a0002c0003t0002 | 0/0 | 3188 | 5 | 5 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| a0003c0007t0002 | 0/0 | 3188 | 2 | 2 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| a0004c0008t0001 | 0/0 | 3188 | 1 | 0 | 0 | 1 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| a0005c0014t0001 | 0/0 | 3188 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| a0006c0010t0001 | 0/0 | 3188 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| a0007c0009t0001 | 0/0 | 3188 | 1 | 0 | 0 | 1 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | copy fasta | chr21 | 44102399 | 44136181 |
| 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 | 12 | 7 | 2 | 3 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| a0001c0001t0001g0004 | 0/0 | 5 | 5 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| a0001c0001t0001g0005 | 0/0 | 3 | 2 | 1 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| a0001c0001t0001g0008 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| a0001c0001t0001g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| a0001c0001t0001g0010 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| a0001c0001t0001g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| a0001c0001t0001g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| a0001c0001t0001g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| a0001c0001t0001g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| a0001c0001t0001g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| a0001c0001t0001g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| a0001c0001t0001g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| a0001c0001t0001g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| a0001c0001t0001g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| a0001c0001t0001g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| a0001c0001t0005g0012 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| a0001c0002t0002g0002 | 0/0 | 7 | 0 | 1 | 6 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| a0001c0002t0002g0003 | 0/0 | 4 | 4 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| a0001c0002t0002g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| a0001c0002t0002g0036 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| a0001c0002t0002g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| a0001c0002t0002g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| a0001c0002t0002g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| a0001c0002t0002g0040 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| a0001c0002t0002g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| a0001c0002t0002g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| a0001c0002t0003g0006 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| a0001c0002t0003g0007 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| a0001c0002t0003g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| a0001c0002t0003g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| a0001c0002t0006g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| a0001c0004t0003g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| a0001c0004t0003g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| a0001c0005t0004g0011 | 0/0 | 2 | 1 | 1 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| a0001c0006t0001g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| a0001c0006t0001g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| a0001c0011t0001g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| a0001c0012t0001g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| a0001c0013t0001g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| a0002c0003t0002g0003 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| a0002c0003t0002g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| a0002c0003t0002g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| a0003c0007t0002g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| a0003c0007t0002g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| a0004c0008t0001g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| a0005c0014t0001g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| a0006c0010t0001g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| a0007c0009t0001g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG01081 | hp1 | a0001 | c0001 | t0001 | g0005 | AMR | PUR | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG01081 | hp2 | a0001 | c0005 | t0004 | g0011 | AMR | PUR | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG01358 | hp1 | a0001 | c0001 | t0005 | g0012 | AMR | CLM | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG01358 | hp2 | a0001 | c0002 | t0002 | g0036 | AMR | CLM | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG01884 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG01884 | hp2 | a0003 | c0007 | t0002 | g0018 | AFR | ACB | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG01891 | hp1 | a0001 | c0001 | t0001 | g0008 | AFR | ACB | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG01891 | hp2 | a0001 | c0002 | t0002 | g0003 | AFR | ACB | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG02055 | hp1 | a0001 | c0002 | t0003 | g0006 | AFR | ACB | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG02055 | hp2 | a0003 | c0007 | t0002 | g0017 | AFR | ACB | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG02148 | hp1 | a0001 | c0002 | t0002 | g0002 | AMR | PEL | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG02148 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG02155 | hp1 | a0001 | c0002 | t0002 | g0043 | EAS | CDX | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG02155 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | CDX | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG02257 | hp1 | a0002 | c0003 | t0002 | g0034 | AFR | ACB | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG02257 | hp2 | a0001 | c0001 | t0001 | g0023 | AFR | ACB | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG02280 | hp1 | a0001 | c0001 | t0001 | g0004 | AFR | ACB | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG02280 | hp2 | a0001 | c0002 | t0003 | g0006 | AFR | ACB | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG02300 | hp1 | a0001 | c0002 | t0002 | g0040 | AMR | PEL | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG02300 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG02615 | hp1 | a0001 | c0002 | t0003 | g0007 | AFR | GWD | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG02615 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG02622 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG02622 | hp2 | a0006 | c0010 | t0001 | g0014 | AFR | GWD | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG02630 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG02630 | hp2 | a0001 | c0001 | t0001 | g0022 | AFR | GWD | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG02717 | hp1 | a0001 | c0002 | t0003 | g0028 | AFR | GWD | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG02717 | hp2 | a0001 | c0006 | t0001 | g0035 | AFR | GWD | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG02723 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG02723 | hp2 | a0001 | c0006 | t0001 | g0021 | AFR | GWD | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG02809 | hp1 | a0002 | c0003 | t0002 | g0003 | AFR | GWD | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG02809 | hp2 | a0001 | c0001 | t0001 | g0005 | AFR | GWD | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG02886 | hp1 | a0001 | c0001 | t0001 | g0041 | AFR | GWD | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG02886 | hp2 | a0005 | c0014 | t0001 | g0045 | AFR | GWD | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG02922 | hp1 | a0002 | c0003 | t0002 | g0003 | AFR | ESN | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG02922 | hp2 | a0001 | c0001 | t0001 | g0004 | AFR | ESN | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG02976 | hp1 | a0002 | c0003 | t0002 | g0030 | AFR | ESN | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG02976 | hp2 | a0001 | c0013 | t0001 | g0027 | AFR | ESN | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG03130 | hp1 | a0001 | c0001 | t0001 | g0019 | AFR | ESN | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG03130 | hp2 | a0001 | c0001 | t0001 | g0008 | AFR | ESN | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG03139 | hp1 | a0001 | c0002 | t0003 | g0029 | AFR | ESN | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG03139 | hp2 | a0001 | c0011 | t0001 | g0044 | AFR | ESN | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG03195 | hp1 | a0001 | c0001 | t0001 | g0020 | AFR | ESN | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG03195 | hp2 | a0001 | c0001 | t0001 | g0004 | AFR | ESN | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG03209 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | MSL | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG03209 | hp2 | a0001 | c0005 | t0004 | g0011 | AFR | MSL | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG03453 | hp1 | a0001 | c0001 | t0001 | g0004 | AFR | MSL | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG03453 | hp2 | a0001 | c0002 | t0002 | g0003 | AFR | MSL | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG03516 | hp1 | a0001 | c0002 | t0002 | g0042 | AFR | ESN | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG03516 | hp2 | a0001 | c0002 | t0002 | g0003 | AFR | ESN | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG03540 | hp1 | a0001 | c0004 | t0003 | g0032 | AFR | GWD | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG03540 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| NA18612 | hp1 | a0001 | c0002 | t0002 | g0002 | EAS | CHB | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| NA18612 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | CHB | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| NA18941 | hp1 | a0001 | c0001 | t0001 | g0024 | EAS | JPT | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| NA18941 | hp2 | a0001 | c0002 | t0002 | g0002 | EAS | JPT | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| NA18970 | hp1 | a0001 | c0001 | t0001 | g0010 | EAS | JPT | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| NA18970 | hp2 | a0001 | c0002 | t0002 | g0002 | EAS | JPT | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| NA18974 | hp1 | a0001 | c0002 | t0002 | g0038 | EAS | JPT | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| NA18974 | hp2 | a0007 | c0009 | t0001 | g0009 | EAS | JPT | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| NA18982 | hp1 | a0001 | c0002 | t0002 | g0037 | EAS | JPT | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| NA18982 | hp2 | a0001 | c0001 | t0001 | g0010 | EAS | JPT | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| NA19003 | hp1 | a0001 | c0012 | t0001 | g0001 | EAS | JPT | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| NA19003 | hp2 | a0001 | c0001 | t0001 | g0016 | EAS | JPT | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| NA19009 | hp1 | a0001 | c0002 | t0002 | g0039 | EAS | JPT | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| NA19009 | hp2 | a0001 | c0002 | t0002 | g0002 | EAS | JPT | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| NA19043 | hp1 | a0001 | c0004 | t0003 | g0033 | AFR | LWK | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| NA19043 | hp2 | a0001 | c0001 | t0001 | g0004 | AFR | LWK | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| NA19058 | hp1 | a0001 | c0002 | t0002 | g0002 | EAS | JPT | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| NA19058 | hp2 | a0004 | c0008 | t0001 | g0015 | EAS | JPT | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| NA19078 | hp1 | a0001 | c0001 | t0001 | g0013 | EAS | JPT | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| NA19078 | hp2 | a0001 | c0002 | t0006 | g0002 | EAS | JPT | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| NA19085 | hp1 | a0001 | c0002 | t0002 | g0002 | EAS | JPT | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| NA19085 | hp2 | a0001 | c0001 | t0001 | g0009 | EAS | JPT | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| NA19087 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| NA19087 | hp2 | a0001 | c0001 | t0001 | g0026 | EAS | JPT | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG02559 | hp1 | a0001 | c0001 | t0001 | g0005 | AFR | ACB | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG02559 | hp2 | a0001 | c0002 | t0003 | g0007 | AFR | ACB | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG03471 | hp1 | a0001 | c0002 | t0002 | g0003 | AFR | MSL | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG03471 | hp2 | a0001 | c0002 | t0003 | g0007 | AFR | MSL | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG06807 | hp1 | a0001 | c0002 | t0002 | g0031 | AFR | USA | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| HG06807 | hp2 | a0001 | c0002 | t0003 | g0006 | AFR | USA | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| NA21309 | hp1 | a0001 | c0001 | t0001 | g0025 | AFR | LWK | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| NA21309 | hp2 | a0002 | c0003 | t0002 | g0003 | AFR | LWK | PWP2_chr21_44102399_44136181 | PWP2 | chr21 | 44102399 | 44136181 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr21:44109012
|
G | A | 1 | a0004 | 1 | NA19058.hp2 | missense_variant | MODERATE | c.47G>A | p.Arg16Gln | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 2/21 | 65/3188 | 47/2760 | 16/919 | chr21 | 44109012 | ||
| chr21:44115800
|
G | A | 1 | a0002 | 5 | HG02257.hp1 HG02809.hp1 HG02922.hp1 others(2): Show |
missense_variant | MODERATE | c.716G>A | p.Arg239Gln | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 7/21 | 734/3188 | 716/2760 | 239/919 | chr21 | 44115800 | ||
| chr21:44118804
|
C | T | 1 | a0005 | 1 | HG02886.hp2 | missense_variant | MODERATE | c.1022C>T | p.Ser341Leu | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 9/21 | 1040/3188 | 1022/2760 | 341/919 | chr21 | 44118804 | ||
| chr21:44122260
|
A | G | 1 | a0006 | 1 | HG02622.hp2 | missense_variant | MODERATE | c.1720A>G | p.Asn574Asp | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 14/21 | 1738/3188 | 1720/2760 | 574/919 | chr21 | 44122260 | ||
| chr21:44122312
|
G | A | 1 | a0007 | 1 | NA18974.hp2 | missense_variant | MODERATE | c.1772G>A | p.Arg591Lys | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 14/21 | 1790/3188 | 1772/2760 | 591/919 | chr21 | 44122312 | ||
| chr21:44128556
|
G | A | 1 | a0003 | 2 | HG01884.hp2 HG02055.hp2 |
missense_variant | MODERATE | c.2515G>A | p.Gly839Arg | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 20/21 | 2533/3188 | 2515/2760 | 839/919 | chr21 | 44128556 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr21:44114195
|
G | A | 1 | a0001c0004 | 2 | HG03540.hp1 NA19043.hp1 |
synonymous_variant | LOW | c.243G>A | p.Leu81Leu | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 4/21 | 261/3188 | 243/2760 | 81/919 | chr21 | 44114195 | ||
| chr21:44114757
|
G | A | 1 | a0001c0005 | 2 | HG01081.hp2 HG03209.hp2 |
synonymous_variant | LOW | c.459G>A | p.Thr153Thr | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 5/21 | 477/3188 | 459/2760 | 153/919 | chr21 | 44114757 | ||
| chr21:44118766
|
T | C | 1 | a0001c0006 | 2 | HG02717.hp2 HG02723.hp2 |
synonymous_variant | LOW | c.984T>C | p.Ile328Ile | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 9/21 | 1002/3188 | 984/2760 | 328/919 | chr21 | 44118766 | ||
| chr21:44119499
|
C | T | 1 | a0001c0013 | 1 | HG02976.hp2 | synonymous_variant | LOW | c.1164C>T | p.Ile388Ile | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 10/21 | 1182/3188 | 1164/2760 | 388/919 | chr21 | 44119499 | ||
| chr21:44119517
|
C | T | 1 | a0001c0012 | 1 | NA19003.hp1 | synonymous_variant | LOW | c.1182C>T | p.Asp394Asp | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 10/21 | 1200/3188 | 1182/2760 | 394/919 | chr21 | 44119517 | ||
| chr21:44120966
|
C | T | 1 | a0001c0011 | 1 | HG03139.hp2 | synonymous_variant | LOW | c.1500C>T | p.His500His | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 13/21 | 1518/3188 | 1500/2760 | 500/919 | chr21 | 44120966 | ||
| chr21:44124713
|
T | C | 6 | a0001c0002a0001c0004a0001c0005others(3): Show | 40 | HG01081.hp2 HG01358.hp2 HG01884.hp2 others(37): Show |
synonymous_variant | LOW | c.1951T>C | p.Leu651Leu | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 15/21 | 1969/3188 | 1951/2760 | 651/919 | chr21 | 44124713 | ||
| chr21:44128032
|
C | A | 4 | a0001c0002a0001c0004a0001c0005others(1): Show | 37 | HG01081.hp2 HG01358.hp2 HG01891.hp2 others(34): Show |
synonymous_variant | LOW | c.2241C>A | p.Pro747Pro | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 18/21 | 2259/3188 | 2241/2760 | 747/919 | chr21 | 44128032 | ||
| chr21:44128335
|
G | A | 1 | a0003c0007 | 2 | HG01884.hp2 HG02055.hp2 |
synonymous_variant | LOW | c.2448G>A | p.Leu816Leu | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 19/21 | 2466/3188 | 2448/2760 | 816/919 | chr21 | 44128335 | ||
| chr21:44128350
|
C | T | 1 | a0001c0005 | 2 | HG01081.hp2 HG03209.hp2 |
synonymous_variant | LOW | c.2463C>T | p.Leu821Leu | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 19/21 | 2481/3188 | 2463/2760 | 821/919 | chr21 | 44128350 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr21:44130994
|
C | G | 1 | a0001c0002t0006 | 1 | NA19078.hp2 | 3_prime_UTR_variant | MODIFIER | c.*223C>G | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 21/21 | 223 | chr21 | 44130994 | |||||
| chr21:44130994
|
C | T | 6 | a0001c0002t0002a0001c0002t0003a0001c0004t0003others(3): Show | 38 | HG01081.hp2 HG01358.hp2 HG01884.hp2 others(35): Show |
3_prime_UTR_variant | MODIFIER | c.*223C>T | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 21/21 | 223 | chr21 | 44130994 | |||||
| chr21:44131030
|
G | A | 1 | a0001c0001t0005 | 1 | HG01358.hp1 | 3_prime_UTR_variant | MODIFIER | c.*259G>A | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 21/21 | 259 | chr21 | 44131030 | |||||
| chr21:44131096
|
TAAAG | T | 1 | a0001c0005t0004 | 2 | HG01081.hp2 HG03209.hp2 |
3_prime_UTR_variant | MODIFIER | c.*328_*331delAGAA | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 21/21 | 328 | INFO_REALIGN_3_PRIME | chr21 | 44131096 | ||||
| chr21:44131151
|
T | C | 2 | a0001c0002t0003a0001c0004t0003 | 10 | HG02055.hp1 HG02280.hp2 HG02559.hp2 others(7): Show |
3_prime_UTR_variant | MODIFIER | c.*380T>C | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 21/21 | 380 | chr21 | 44131151 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr21:44107579
|
G | A | 1 | a0001c0001t0005g0012 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.18+145G>A | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 1/20 | chr21 | 44107579 | ||||||
| chr21:44107847
|
G | T | 1 | a0005c0014t0001g0045 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.18+413G>T | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 1/20 | chr21 | 44107847 | ||||||
| chr21:44108015
|
T | C | 2 | a0001c0001t0001g0013a0006c0010t0001g0014 | 2 | HG02622.hp2 NA19078.hp1 |
intron_variant | MODIFIER | c.18+581T>C | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 1/20 | chr21 | 44108015 | ||||||
| chr21:44108228
|
C | A | 1 | a0004c0008t0001g0015 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.19-756C>A | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 1/20 | chr21 | 44108228 | ||||||
| chr21:44108461
|
C | A | 1 | a0001c0001t0001g0016 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.19-523C>A | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 1/20 | chr21 | 44108461 | ||||||
| chr21:44108803
|
C | T | 2 | a0001c0011t0001g0044a0005c0014t0001g0045 | 2 | HG02886.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.19-181C>T | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 1/20 | chr21 | 44108803 | ||||||
| chr21:44108965
|
A | T | 1 | a0001c0002t0002g0043 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.19-19A>T | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 1/20 | chr21 | 44108965 | ||||||
| chr21:44109164
|
A | G | 1 | a0005c0014t0001g0045 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.131+68A>G | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 2/20 | chr21 | 44109164 | ||||||
| chr21:44109234
|
C | G | 1 | a0006c0010t0001g0014 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.131+138C>G | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 2/20 | chr21 | 44109234 | ||||||
| chr21:44109616
|
C | T | 1 | a0001c0002t0002g0042 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.131+520C>T | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 2/20 | chr21 | 44109616 | ||||||
| chr21:44109968
|
A | G | 1 | a0001c0001t0001g0041 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.131+872A>G | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 2/20 | chr21 | 44109968 | ||||||
| chr21:44110783
|
A | G | 1 | a0001c0002t0002g0042 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.131+1687A>G | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 2/20 | chr21 | 44110783 | ||||||
| chr21:44110978
|
A | G | 1 | a0006c0010t0001g0014 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.131+1882A>G | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 2/20 | chr21 | 44110978 | ||||||
| chr21:44111309
|
C | T | 1 | a0001c0002t0002g0040 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.131+2213C>T | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 2/20 | chr21 | 44111309 | ||||||
| chr21:44111472
|
T | A | 1 | a0004c0008t0001g0015 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.132-2281T>A | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 2/20 | chr21 | 44111472 | ||||||
| chr21:44111533
|
A | G | 1 | a0001c0001t0001g0004 | 5 | HG02280.hp1 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.132-2220A>G | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 2/20 | chr21 | 44111533 | ||||||
| chr21:44111656
|
A | T | 1 | a0001c0002t0002g0043 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.132-2097A>T | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 2/20 | chr21 | 44111656 | ||||||
| chr21:44112022
|
G | A | 1 | a0006c0010t0001g0014 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.132-1731G>A | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 2/20 | chr21 | 44112022 | ||||||
| chr21:44112041
|
T | G | 1 | a0005c0014t0001g0045 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.132-1712T>G | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 2/20 | chr21 | 44112041 | ||||||
| chr21:44112094
|
A | G | 1 | a0006c0010t0001g0014 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.132-1659A>G | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 2/20 | chr21 | 44112094 | ||||||
| chr21:44112192
|
A | G | 8 | a0001c0002t0002g0002a0001c0002t0002g0036a0001c0002t0002g0037others(5): Show | 14 | HG01358.hp2 HG02148.hp1 HG02155.hp1 others(11): Show |
intron_variant | MODIFIER | c.132-1561A>G | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 2/20 | chr21 | 44112192 | ||||||
| chr21:44112405
|
A | C | 1 | a0001c0006t0001g0035 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.132-1348A>C | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 2/20 | chr21 | 44112405 | ||||||
| chr21:44112520
|
C | T | 21 | a0001c0002t0002g0002a0001c0002t0002g0003a0001c0002t0002g0031others(18): Show | 37 | HG01081.hp2 HG01358.hp2 HG01891.hp2 others(34): Show |
intron_variant | MODIFIER | c.132-1233C>T | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 2/20 | chr21 | 44112520 | ||||||
| chr21:44112606
|
C | T | 1 | a0001c0013t0001g0027 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.132-1147C>T | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 2/20 | chr21 | 44112606 | ||||||
| chr21:44112648
|
T | G | 23 | a0001c0002t0002g0002a0001c0002t0002g0003a0001c0002t0002g0031others(20): Show | 39 | HG01081.hp2 HG01358.hp2 HG01884.hp2 others(36): Show |
intron_variant | MODIFIER | c.132-1105T>G | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 2/20 | chr21 | 44112648 | ||||||
| chr21:44113052
|
C | T | 1 | a0001c0013t0001g0027 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.132-701C>T | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 2/20 | chr21 | 44113052 | ||||||
| chr21:44113107
|
G | A | 1 | a0001c0005t0004g0011 | 2 | HG01081.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.132-646G>A | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 2/20 | chr21 | 44113107 | ||||||
| chr21:44113153
|
G | A | 49 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(46): Show | 84 | HG01081.hp1 HG01081.hp2 HG01358.hp1 others(81): Show |
intron_variant | MODIFIER | c.132-600G>A | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 2/20 | chr21 | 44113153 | ||||||
| chr21:44113423
|
G | A | 1 | a0001c0001t0001g0019 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.132-330G>A | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 2/20 | chr21 | 44113423 | ||||||
| chr21:44113598
|
G | A | 1 | a0001c0001t0001g0019 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.132-155G>A | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 2/20 | chr21 | 44113598 | ||||||
| chr21:44114151
|
C | T | 1 | a0005c0014t0001g0045 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.227-28C>T | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 3/20 | chr21 | 44114151 | ||||||
| chr21:44114299
|
G | A | 3 | a0001c0002t0003g0006a0001c0002t0003g0028a0001c0002t0003g0029 | 5 | HG02055.hp1 HG02280.hp2 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.326+21G>A | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 4/20 | chr21 | 44114299 | ||||||
| chr21:44114586
|
T | G | 1 | a0001c0001t0001g0020 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.327-39T>G | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 4/20 | chr21 | 44114586 | ||||||
| chr21:44114826
|
A | G | 1 | a0001c0001t0001g0010 | 2 | NA18970.hp1 NA18982.hp2 |
intron_variant | MODIFIER | c.470+58A>G | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 5/20 | chr21 | 44114826 | ||||||
| chr21:44114933
|
T | C | 1 | a0006c0010t0001g0014 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.470+165T>C | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 5/20 | chr21 | 44114933 | ||||||
| chr21:44114997
|
TC | T | 21 | a0001c0002t0002g0002a0001c0002t0002g0003a0001c0002t0002g0031others(18): Show | 37 | HG01081.hp2 HG01358.hp2 HG01891.hp2 others(34): Show |
intron_variant | MODIFIER | c.470+232delC | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr21 | 44114997 | |||||
| chr21:44115121
|
G | T | 18 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0008others(15): Show | 35 | HG01358.hp1 HG01884.hp1 HG01891.hp1 others(32): Show |
intron_variant | MODIFIER | c.471-143G>T | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 5/20 | chr21 | 44115121 | ||||||
| chr21:44115554
|
C | G | 1 | a0001c0001t0001g0019 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.607-137C>G | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 6/20 | chr21 | 44115554 | ||||||
| chr21:44115629
|
C | T | 8 | a0001c0002t0002g0002a0001c0002t0002g0036a0001c0002t0002g0037others(5): Show | 14 | HG01358.hp2 HG02148.hp1 HG02155.hp1 others(11): Show |
intron_variant | MODIFIER | c.607-62C>T | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 6/20 | chr21 | 44115629 | ||||||
| chr21:44115668
|
T | C | 1 | a0001c0001t0001g0019 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.607-23T>C | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 6/20 | chr21 | 44115668 | ||||||
| chr21:44116204
|
G | A | 1 | a0001c0011t0001g0044 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.836+284G>A | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 7/20 | chr21 | 44116204 | ||||||
| chr21:44116208
|
C | T | 3 | a0001c0002t0002g0038a0001c0002t0002g0039a0001c0002t0002g0042 | 3 | HG03516.hp1 NA18974.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.836+288C>T | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 7/20 | chr21 | 44116208 | ||||||
| chr21:44116329
|
A | G | 1 | a0002c0003t0002g0034 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.836+409A>G | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 7/20 | chr21 | 44116329 | ||||||
| chr21:44116355
|
G | A | 1 | a0001c0002t0002g0036 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.836+435G>A | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 7/20 | chr21 | 44116355 | ||||||
| chr21:44116601
|
TG | T | 49 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(46): Show | 84 | HG01081.hp1 HG01081.hp2 HG01358.hp1 others(81): Show |
intron_variant | MODIFIER | c.836+687delG | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr21 | 44116601 | |||||
| chr21:44116799
|
G | C | 1 | a0001c0001t0001g0019 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.836+879G>C | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 7/20 | chr21 | 44116799 | ||||||
| chr21:44116856
|
G | A | 21 | a0001c0002t0002g0002a0001c0002t0002g0003a0001c0002t0002g0031others(18): Show | 37 | HG01081.hp2 HG01358.hp2 HG01891.hp2 others(34): Show |
intron_variant | MODIFIER | c.836+936G>A | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 7/20 | chr21 | 44116856 | ||||||
| chr21:44116891
|
C | T | 1 | a0001c0002t0002g0037 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.837-929C>T | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 7/20 | chr21 | 44116891 | ||||||
| chr21:44117172
|
T | C | 1 | a0006c0010t0001g0014 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.837-648T>C | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 7/20 | chr21 | 44117172 | ||||||
| chr21:44118003
|
C | T | 1 | a0001c0001t0001g0019 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.980+40C>T | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 8/20 | chr21 | 44118003 | ||||||
| chr21:44118037
|
G | A | 1 | a0003c0007t0002g0017 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.980+74G>A | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 8/20 | chr21 | 44118037 | ||||||
| chr21:44118448
|
G | A | 1 | a0005c0014t0001g0045 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.981-315G>A | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 8/20 | chr21 | 44118448 | ||||||
| chr21:44118477
|
A | C | 1 | a0001c0005t0004g0011 | 2 | HG01081.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.981-286A>C | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 8/20 | chr21 | 44118477 | ||||||
| chr21:44118505
|
G | T | 1 | a0001c0004t0003g0033 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.981-258G>T | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 8/20 | chr21 | 44118505 | ||||||
| chr21:44118844
|
C | A | 2 | a0001c0006t0001g0021a0001c0006t0001g0035 | 2 | HG02717.hp2 HG02723.hp2 |
intron_variant | MODIFIER | c.1051+11C>A | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 9/20 | chr21 | 44118844 | ||||||
| chr21:44118901
|
A | T | 6 | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0026others(3): Show | 7 | HG02717.hp2 HG02723.hp2 NA18970.hp1 others(4): Show |
intron_variant | MODIFIER | c.1051+68A>T | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 9/20 | chr21 | 44118901 | ||||||
| chr21:44119009
|
G | C | 14 | a0001c0002t0002g0002a0001c0002t0002g0003a0001c0002t0002g0031others(11): Show | 25 | HG01358.hp2 HG01891.hp2 HG02148.hp1 others(22): Show |
intron_variant | MODIFIER | c.1051+176G>C | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 9/20 | chr21 | 44119009 | ||||||
| chr21:44119235
|
G | A | 1 | a0002c0003t0002g0034 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.1052-152G>A | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 9/20 | chr21 | 44119235 | ||||||
| chr21:44119357
|
C | T | 1 | a0001c0002t0003g0029 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.1052-30C>T | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 9/20 | chr21 | 44119357 | ||||||
| chr21:44119639
|
A | G | 1 | a0001c0002t0003g0029 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.1188+116A>G | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 10/20 | chr21 | 44119639 | ||||||
| chr21:44119653
|
C | T | 2 | a0003c0007t0002g0017a0003c0007t0002g0018 | 2 | HG01884.hp2 HG02055.hp2 |
intron_variant | MODIFIER | c.1188+130C>T | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 10/20 | chr21 | 44119653 | ||||||
| chr21:44119767
|
C | T | 13 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(10): Show | 25 | HG01358.hp1 HG01884.hp1 HG02148.hp2 others(22): Show |
intron_variant | MODIFIER | c.1188+244C>T | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 10/20 | chr21 | 44119767 | ||||||
| chr21:44119813
|
C | T | 1 | a0006c0010t0001g0014 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.1188+290C>T | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 10/20 | chr21 | 44119813 | ||||||
| chr21:44119984
|
C | G | 1 | a0001c0005t0004g0011 | 2 | HG01081.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.1189-364C>G | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 10/20 | chr21 | 44119984 | ||||||
| chr21:44120138
|
T | C | 1 | a0001c0006t0001g0021 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1189-210T>C | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 10/20 | chr21 | 44120138 | ||||||
| chr21:44120152
|
T | G | 2 | a0003c0007t0002g0017a0003c0007t0002g0018 | 2 | HG01884.hp2 HG02055.hp2 |
intron_variant | MODIFIER | c.1189-196T>G | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 10/20 | chr21 | 44120152 | ||||||
| chr21:44120222
|
G | A | 12 | a0001c0002t0002g0002a0001c0002t0002g0003a0001c0002t0002g0036others(9): Show | 23 | HG01358.hp2 HG01891.hp2 HG02148.hp1 others(20): Show |
intron_variant | MODIFIER | c.1189-126G>A | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 10/20 | chr21 | 44120222 | ||||||
| chr21:44120262
|
G | A | 24 | a0001c0002t0002g0002a0001c0002t0002g0003a0001c0002t0002g0031others(21): Show | 40 | HG01081.hp2 HG01358.hp2 HG01884.hp2 others(37): Show |
intron_variant | MODIFIER | c.1189-86G>A | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 10/20 | chr21 | 44120262 | ||||||
| chr21:44120298
|
C | T | 1 | a0001c0001t0001g0023 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1189-50C>T | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 10/20 | chr21 | 44120298 | ||||||
| chr21:44121273
|
G | A | 21 | a0001c0002t0002g0002a0001c0002t0002g0003a0001c0002t0002g0031others(18): Show | 37 | HG01081.hp2 HG01358.hp2 HG01891.hp2 others(34): Show |
intron_variant | MODIFIER | c.1636+171G>A | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 13/20 | chr21 | 44121273 | ||||||
| chr21:44121637
|
G | A | 13 | a0001c0002t0002g0002a0001c0002t0002g0003a0001c0002t0002g0036others(10): Show | 24 | HG01358.hp2 HG01891.hp2 HG02148.hp1 others(21): Show |
intron_variant | MODIFIER | c.1636+535G>A | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 13/20 | chr21 | 44121637 | ||||||
| chr21:44121937
|
G | A | 1 | a0001c0001t0001g0022 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1637-240G>A | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 13/20 | chr21 | 44121937 | ||||||
| chr21:44121992
|
T | G | 1 | a0001c0001t0001g0022 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1637-185T>G | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 13/20 | chr21 | 44121992 | ||||||
| chr21:44123139
|
A | C | 1 | a0006c0010t0001g0014 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.1817+782A>C | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 14/20 | chr21 | 44123139 | ||||||
| chr21:44123237
|
A | AG | 49 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(46): Show | 84 | HG01081.hp1 HG01081.hp2 HG01358.hp1 others(81): Show |
intron_variant | MODIFIER | c.1817+880_1817+881i others(3): Show |
PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 14/20 | chr21 | 44123237 | ||||||
| chr21:44123251
|
A | G | 49 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(46): Show | 84 | HG01081.hp1 HG01081.hp2 HG01358.hp1 others(81): Show |
intron_variant | MODIFIER | c.1817+894A>G | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 14/20 | chr21 | 44123251 | ||||||
| chr21:44123267
|
A | G | 49 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(46): Show | 84 | HG01081.hp1 HG01081.hp2 HG01358.hp1 others(81): Show |
intron_variant | MODIFIER | c.1817+910A>G | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 14/20 | chr21 | 44123267 | ||||||
| chr21:44123692
|
G | C | 1 | a0001c0006t0001g0021 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1818-888G>C | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 14/20 | chr21 | 44123692 | ||||||
| chr21:44124068
|
T | A | 1 | a0001c0013t0001g0027 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.1818-512T>A | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 14/20 | chr21 | 44124068 | ||||||
| chr21:44124444
|
A | G | 1 | a0003c0007t0002g0018 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.1818-136A>G | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 14/20 | chr21 | 44124444 | ||||||
| chr21:44124905
|
A | G | 27 | a0001c0001t0001g0019a0001c0002t0002g0002a0001c0002t0002g0003others(24): Show | 43 | HG01081.hp2 HG01358.hp2 HG01884.hp2 others(40): Show |
intron_variant | MODIFIER | c.1965+178A>G | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 15/20 | chr21 | 44124905 | ||||||
| chr21:44125040
|
G | A | 1 | a0001c0001t0001g0019 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1965+313G>A | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 15/20 | chr21 | 44125040 | ||||||
| chr21:44125111
|
C | T | 1 | a0001c0001t0001g0019 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1965+384C>T | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 15/20 | chr21 | 44125111 | ||||||
| chr21:44125250
|
C | T | 1 | a0001c0001t0001g0019 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1965+523C>T | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 15/20 | chr21 | 44125250 | ||||||
| chr21:44125452
|
C | T | 1 | a0001c0002t0002g0042 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.1966-559C>T | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 15/20 | chr21 | 44125452 | ||||||
| chr21:44125726
|
T | C | 1 | a0003c0007t0002g0018 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.1966-285T>C | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 15/20 | chr21 | 44125726 | ||||||
| chr21:44125827
|
C | A | 1 | a0001c0002t0003g0028 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1966-184C>A | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 15/20 | chr21 | 44125827 | ||||||
| chr21:44125942
|
A | G | 1 | a0001c0001t0001g0019 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1966-69A>G | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 15/20 | chr21 | 44125942 | ||||||
| chr21:44126697
|
G | A | 2 | a0001c0004t0003g0032a0001c0004t0003g0033 | 2 | HG03540.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.2075-203G>A | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 16/20 | chr21 | 44126697 | ||||||
| chr21:44127317
|
G | T | 1 | a0001c0011t0001g0044 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.2140+352G>T | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 17/20 | chr21 | 44127317 | ||||||
| chr21:44127721
|
T | C | 1 | a0006c0010t0001g0014 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.2141-211T>C | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 17/20 | chr21 | 44127721 | ||||||
| chr21:44127819
|
C | G | 2 | a0003c0007t0002g0017a0003c0007t0002g0018 | 2 | HG01884.hp2 HG02055.hp2 |
intron_variant | MODIFIER | c.2141-113C>G | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 17/20 | chr21 | 44127819 | ||||||
| chr21:44127855
|
TA | T | 21 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0008others(18): Show | 38 | HG01358.hp1 HG01884.hp1 HG01891.hp1 others(35): Show |
intron_variant | MODIFIER | c.2141-62delA | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr21 | 44127855 | |||||
| chr21:44128175
|
C | T | 1 | a0003c0007t0002g0017 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.2359+25C>T | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 18/20 | chr21 | 44128175 | ||||||
| chr21:44128796
|
G | C | 1 | a0006c0010t0001g0014 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.2585+170G>C | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 20/20 | chr21 | 44128796 | ||||||
| chr21:44128817
|
C | T | 1 | a0001c0005t0004g0011 | 2 | HG01081.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.2585+191C>T | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 20/20 | chr21 | 44128817 | ||||||
| chr21:44128868
|
C | T | 1 | a0001c0001t0001g0013 | 1 | NA19078.hp1 | intron_variant | MODIFIER | c.2585+242C>T | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 20/20 | chr21 | 44128868 | ||||||
| chr21:44128870
|
C | T | 1 | a0001c0001t0001g0010 | 2 | NA18970.hp1 NA18982.hp2 |
intron_variant | MODIFIER | c.2585+244C>T | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 20/20 | chr21 | 44128870 | ||||||
| chr21:44128915
|
C | T | 1 | a0006c0010t0001g0014 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.2585+289C>T | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 20/20 | chr21 | 44128915 | ||||||
| chr21:44129106
|
T | C | 1 | a0006c0010t0001g0014 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.2585+480T>C | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 20/20 | chr21 | 44129106 | ||||||
| chr21:44129111
|
C | T | 1 | a0005c0014t0001g0045 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.2585+485C>T | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 20/20 | chr21 | 44129111 | ||||||
| chr21:44129331
|
T | C | 1 | a0001c0001t0001g0026 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.2585+705T>C | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 20/20 | chr21 | 44129331 | ||||||
| chr21:44129551
|
T | C | 1 | a0003c0007t0002g0017 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.2585+925T>C | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 20/20 | chr21 | 44129551 | ||||||
| chr21:44129992
|
T | C | 1 | a0006c0010t0001g0014 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.2586-605T>C | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 20/20 | chr21 | 44129992 | ||||||
| chr21:44130033
|
A | G | 1 | a0001c0001t0001g0022 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.2586-564A>G | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 20/20 | chr21 | 44130033 | ||||||
| chr21:44130396
|
G | C | 1 | a0001c0001t0001g0025 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.2586-201G>C | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 20/20 | chr21 | 44130396 | ||||||
| chr21:44130484
|
C | T | 1 | a0001c0002t0002g0039 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.2586-113C>T | PWP2 | ENSG00000241945.8 | transcript | ENST00000291576.12 | protein_coding | 20/20 | chr21 | 44130484 |