| geneid | 10400 |
|---|---|
| ensemblid | ENSG00000133027.18 |
| hgncid | 8830 |
| symbol | PEMT |
| name | phosphatidylethanolamine N-methyltransferase |
| refseq_nuc | NM_148172.3 |
| refseq_prot | NP_680477.1 |
| ensembl_nuc | ENST00000255389.10 |
| ensembl_prot | ENSP00000255389.5 |
| mane_status | MANE Select |
| chr | chr17 |
| start | 17505563 |
| end | 17591708 |
| strand | - |
| ver | v1.2 |
| region | chr17:17505563-17591708 |
| region5000 | chr17:17500563-17596708 |
| regionname0 | PEMT_chr17_17505563_17591708 |
| regionname5000 | PEMT_chr17_17500563_17596708 |
| 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 | 1/0 | 236 | 194 | 57 | 23 | 93 | 2 | 18 | 68 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| a0002 | 0/1 | 236 | 73 | 18 | 22 | 16 | 6 | 10 | 9 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| a0003 | 0/0 | 236 | 59 | 6 | 22 | 18 | 7 | 6 | 17 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| a0004 | 0/0 | 236 | 10 | 4 | 1 | 1 | 1 | 3 | 0 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| a0005 | 0/0 | 236 | 7 | 7 | 0 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| a0006 | 0/0 | 236 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| a0007 | 0/0 | 236 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| a0008 | 0/0 | 236 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| a0009 | 0/0 | 236 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| a0010 | 0/0 | 236 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| 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 | 1/0 | 711 | 194 | 57 | 23 | 93 | 2 | 18 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| c0002 | 0/1 | 711 | 71 | 18 | 22 | 14 | 6 | 10 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| c0003 | 0/0 | 711 | 51 | 6 | 20 | 16 | 6 | 3 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| c0004 | 0/0 | 711 | 8 | 0 | 2 | 2 | 1 | 3 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| c0005 | 0/0 | 711 | 8 | 4 | 0 | 1 | 0 | 3 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| c0006 | 0/0 | 711 | 7 | 7 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| c0007 | 0/0 | 711 | 2 | 0 | 1 | 0 | 1 | 0 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| c0008 | 0/0 | 711 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| c0009 | 0/0 | 711 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| c0010 | 0/0 | 711 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| c0011 | 0/0 | 711 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| c0012 | 0/0 | 711 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| c0013 | 0/0 | 711 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| c0014 | 0/0 | 711 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| 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 | 1/1 | 311 | 344 | 90 | 70 | 128 | 16 | 38 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| t0002 | 0/0 | 311 | 3 | 3 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| t0003 | 0/0 | 311 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| 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 | 3 | 0 | 0 | 0 | 1 | 2 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0002 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0003 | 0/0 | 2 | 0 | 1 | 0 | 1 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0004 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0021 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0022 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0023 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0025 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0027 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0029 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0033 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0034 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0037 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0038 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0040 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0041 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0042 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0043 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0045 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0047 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0049 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0050 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0051 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0056 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0060 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0061 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0063 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0065 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0066 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0078 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0092 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0102 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0104 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0106 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0108 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0109 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0112 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0117 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0119 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0124 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0125 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0126 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0130 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0132 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0133 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0134 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0135 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0136 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0139 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0142 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0144 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0145 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0146 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0147 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0148 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0151 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0154 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0155 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0157 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0165 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0169 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0171 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0173 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0174 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0175 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0176 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0179 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0190 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0191 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0192 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0194 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0196 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0197 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0198 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0199 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0200 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0201 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0203 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0204 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0206 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0208 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0211 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0212 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0213 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0215 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0216 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0217 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0218 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0219 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0220 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0221 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0223 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0224 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0225 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0226 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0227 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0228 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0229 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0230 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0231 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0232 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0233 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0235 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0236 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0237 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0238 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0239 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0240 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0241 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0242 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0243 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0244 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0245 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0246 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0247 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0248 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0249 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0250 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0251 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0252 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0253 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0254 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0255 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0256 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0257 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0258 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0259 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0260 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0261 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0262 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0263 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0264 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0265 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0266 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0267 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0268 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0269 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0270 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0271 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0272 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0273 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0274 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0275 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0276 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0277 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0278 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0279 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0280 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0281 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0282 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0283 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0284 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0285 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0286 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0287 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0288 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0289 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0290 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0291 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0292 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0293 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0294 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0295 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0296 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0297 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0298 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0299 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0300 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0301 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0302 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0303 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0304 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0305 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0306 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0307 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0308 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0309 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0310 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0311 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0312 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0313 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0314 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0315 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0316 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0317 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0318 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0319 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0320 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0321 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0322 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0323 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0324 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0325 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0326 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0327 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0328 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0329 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0330 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0331 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0332 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0333 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0334 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0335 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0336 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0337 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0338 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0339 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0340 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0341 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| g0342 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| 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 | 1/0 | 711 | 194 | 57 | 23 | 93 | 2 | 18 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| a0002c0002 | 0/1 | 711 | 71 | 18 | 22 | 14 | 6 | 10 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| a0002c0009 | 0/0 | 711 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| a0002c0012 | 0/0 | 711 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| a0003c0003 | 0/0 | 711 | 51 | 6 | 20 | 16 | 6 | 3 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| a0003c0004 | 0/0 | 711 | 8 | 0 | 2 | 2 | 1 | 3 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| a0004c0005 | 0/0 | 711 | 8 | 4 | 0 | 1 | 0 | 3 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| a0004c0007 | 0/0 | 711 | 2 | 0 | 1 | 0 | 1 | 0 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| a0005c0006 | 0/0 | 711 | 7 | 7 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| a0006c0008 | 0/0 | 711 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| a0007c0011 | 0/0 | 711 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| a0008c0010 | 0/0 | 711 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| a0009c0013 | 0/0 | 711 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| a0010c0014 | 0/0 | 711 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 1/0 | 1021 | 191 | 54 | 23 | 93 | 2 | 18 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| a0001c0001t0002 | 0/0 | 1021 | 2 | 2 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| a0001c0001t0003 | 0/0 | 1021 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| a0002c0002t0001 | 0/1 | 1021 | 71 | 18 | 22 | 14 | 6 | 10 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| a0002c0009t0001 | 0/0 | 1021 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| a0002c0012t0001 | 0/0 | 1021 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| a0003c0003t0001 | 0/0 | 1021 | 51 | 6 | 20 | 16 | 6 | 3 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| a0003c0004t0001 | 0/0 | 1021 | 8 | 0 | 2 | 2 | 1 | 3 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| a0004c0005t0001 | 0/0 | 1021 | 8 | 4 | 0 | 1 | 0 | 3 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| a0004c0007t0001 | 0/0 | 1021 | 2 | 0 | 1 | 0 | 1 | 0 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| a0005c0006t0001 | 0/0 | 1021 | 6 | 6 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| a0005c0006t0002 | 0/0 | 1021 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| a0006c0008t0001 | 0/0 | 1021 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| a0007c0011t0001 | 0/0 | 1021 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| a0008c0010t0001 | 0/0 | 1021 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| a0009c0013t0001 | 0/0 | 1021 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| a0010c0014t0001 | 0/0 | 1021 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | copy fasta | chr17 | 17500563 | 17596708 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0021 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0037 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0041 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0045 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0047 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0049 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0061 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0078 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0092 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0102 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0104 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0112 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0119 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0142 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0146 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0147 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0151 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0154 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0155 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0157 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0165 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0169 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0171 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0174 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0175 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0176 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0179 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0191 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0196 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0198 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0199 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0204 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0208 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0212 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0215 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0216 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0218 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0220 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0223 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0225 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0230 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0233 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0235 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0239 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0240 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0241 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0242 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0243 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0248 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0249 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0250 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0252 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0256 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0259 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0262 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0265 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0266 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0271 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0273 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0275 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0276 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0277 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0278 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0280 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0281 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0282 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0283 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0285 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0286 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0287 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0288 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0289 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0290 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0291 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0293 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0294 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0295 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0296 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0297 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0298 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0299 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0300 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0302 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0303 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0304 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0305 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0306 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0307 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0309 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0312 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0314 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0316 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0317 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0318 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0319 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0320 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0321 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0323 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0327 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0330 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0331 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0332 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0333 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0334 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0337 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0338 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0339 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0340 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0001g0341 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0002g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0002g0325 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0001c0001t0003g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0004 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0117 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0124 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0125 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0126 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0130 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0132 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0133 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0134 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0136 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0145 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0148 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0173 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0190 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0194 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0197 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0201 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0203 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0219 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0221 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0224 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0226 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0227 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0228 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0229 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0231 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0232 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0236 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0237 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0238 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0244 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0245 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0246 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0247 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0251 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0253 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0254 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0257 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0258 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0260 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0261 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0272 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0274 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0279 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0301 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0313 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0315 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0322 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0324 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0328 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0329 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0335 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0336 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0002t0001g0342 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0009t0001g0308 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0002c0012t0001g0292 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0001 | 0/0 | 3 | 0 | 0 | 0 | 1 | 2 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0002 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0003 | 0/0 | 2 | 0 | 1 | 0 | 1 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0022 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0023 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0027 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0033 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0034 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0038 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0042 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0043 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0050 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0051 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0060 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0065 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0066 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0135 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0139 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0144 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0192 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0217 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0255 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0263 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0264 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0267 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0268 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0269 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0270 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0310 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0003t0001g0311 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0004t0001g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0004t0001g0040 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0004t0001g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0004t0001g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0004t0001g0063 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0004t0001g0108 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0004t0001g0109 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0003c0004t0001g0213 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0004c0005t0001g0025 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0004c0005t0001g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0004c0005t0001g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0004c0005t0001g0056 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0004c0005t0001g0206 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0004c0005t0001g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0004c0005t0001g0211 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0004c0005t0001g0284 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0004c0007t0001g0029 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0004c0007t0001g0106 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0005c0006t0001g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0005c0006t0001g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0005c0006t0001g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0005c0006t0001g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0005c0006t0001g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0005c0006t0001g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0005c0006t0002g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0006c0008t0001g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0007c0011t0001g0326 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0008c0010t0001g0200 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0009c0013t0001g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| a0010c0014t0001g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0001 | t0001 | g0104 | EUR | GBR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG00099 | hp2 | a0002 | c0002 | t0001 | g0136 | EUR | GBR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG00140 | hp1 | a0003 | c0003 | t0001 | g0135 | EUR | GBR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG00140 | hp2 | a0002 | c0002 | t0001 | g0244 | EUR | GBR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG00280 | hp1 | a0002 | c0002 | t0001 | g0246 | EUR | FIN | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG00280 | hp2 | a0003 | c0003 | t0001 | g0038 | EUR | FIN | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG00323 | hp1 | a0002 | c0002 | t0001 | g0125 | EUR | FIN | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG00323 | hp2 | a0003 | c0003 | t0001 | g0033 | EUR | FIN | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG00408 | hp1 | a0001 | c0001 | t0001 | g0299 | EAS | CHS | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG00408 | hp2 | a0001 | c0001 | t0001 | g0262 | EAS | CHS | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG00423 | hp1 | a0001 | c0001 | t0001 | g0286 | EAS | CHS | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG00423 | hp2 | a0001 | c0001 | t0001 | g0101 | EAS | CHS | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG00438 | hp1 | a0001 | c0001 | t0001 | g0317 | EAS | CHS | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG00438 | hp2 | a0001 | c0001 | t0001 | g0180 | EAS | CHS | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG00544 | hp1 | a0004 | c0005 | t0001 | g0052 | EAS | CHS | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG00544 | hp2 | a0002 | c0002 | t0001 | g0167 | EAS | CHS | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG00639 | hp1 | a0002 | c0002 | t0001 | g0126 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG00639 | hp2 | a0003 | c0003 | t0001 | g0050 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG00673 | hp1 | a0001 | c0001 | t0001 | g0305 | EAS | CHS | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG00673 | hp2 | a0001 | c0001 | t0001 | g0113 | EAS | CHS | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG00741 | hp1 | a0001 | c0001 | t0001 | g0179 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG00741 | hp2 | a0002 | c0002 | t0001 | g0132 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01069 | hp1 | a0002 | c0002 | t0001 | g0173 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01069 | hp2 | a0002 | c0002 | t0001 | g0117 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01070 | hp1 | a0001 | c0001 | t0001 | g0239 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01070 | hp2 | a0003 | c0003 | t0001 | g0139 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01071 | hp1 | a0002 | c0002 | t0001 | g0004 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01071 | hp2 | a0001 | c0001 | t0001 | g0243 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01081 | hp1 | a0003 | c0003 | t0001 | g0003 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01081 | hp2 | a0002 | c0002 | t0001 | g0232 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01099 | hp1 | a0001 | c0001 | t0001 | g0112 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01099 | hp2 | a0002 | c0002 | t0001 | g0004 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01106 | hp1 | a0003 | c0003 | t0001 | g0023 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01106 | hp2 | a0001 | c0001 | t0001 | g0271 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01109 | hp1 | a0001 | c0001 | t0001 | g0078 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01109 | hp2 | a0001 | c0001 | t0001 | g0275 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01167 | hp1 | a0002 | c0002 | t0001 | g0237 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01167 | hp2 | a0003 | c0003 | t0001 | g0027 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01168 | hp1 | a0003 | c0003 | t0001 | g0030 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01168 | hp2 | a0002 | c0002 | t0001 | g0231 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01169 | hp1 | a0003 | c0003 | t0001 | g0066 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01169 | hp2 | a0002 | c0002 | t0001 | g0236 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01175 | hp1 | a0003 | c0003 | t0001 | g0042 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01175 | hp2 | a0001 | c0001 | t0001 | g0278 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01192 | hp1 | a0001 | c0001 | t0001 | g0259 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01192 | hp2 | a0003 | c0004 | t0001 | g0054 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01243 | hp1 | a0003 | c0003 | t0001 | g0144 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01243 | hp2 | a0002 | c0002 | t0001 | g0254 | AMR | PUR | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01255 | hp1 | a0003 | c0003 | t0001 | g0065 | AMR | CLM | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01255 | hp2 | a0002 | c0002 | t0001 | g0324 | AMR | CLM | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01256 | hp1 | a0003 | c0003 | t0001 | g0311 | AMR | CLM | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01256 | hp2 | a0002 | c0002 | t0001 | g0130 | AMR | CLM | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01257 | hp1 | a0001 | c0001 | t0001 | g0045 | AMR | CLM | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01257 | hp2 | a0004 | c0007 | t0001 | g0029 | AMR | CLM | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01258 | hp1 | a0001 | c0001 | t0001 | g0049 | AMR | CLM | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01258 | hp2 | a0002 | c0002 | t0001 | g0133 | AMR | CLM | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01261 | hp1 | a0003 | c0004 | t0001 | g0063 | AMR | CLM | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01261 | hp2 | a0001 | c0001 | t0001 | g0252 | AMR | CLM | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01346 | hp1 | a0003 | c0003 | t0001 | g0060 | AMR | CLM | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01346 | hp2 | a0003 | c0003 | t0001 | g0058 | AMR | CLM | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01358 | hp1 | a0009 | c0013 | t0001 | g0055 | AMR | CLM | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01358 | hp2 | a0001 | c0001 | t0001 | g0320 | AMR | CLM | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01361 | hp1 | a0003 | c0003 | t0001 | g0310 | AMR | CLM | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01361 | hp2 | a0003 | c0003 | t0001 | g0039 | AMR | CLM | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01433 | hp1 | a0002 | c0002 | t0001 | g0197 | AMR | CLM | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01433 | hp2 | a0001 | c0001 | t0001 | g0291 | AMR | CLM | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01496 | hp1 | a0002 | c0002 | t0001 | g0272 | AMR | CLM | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01496 | hp2 | a0003 | c0003 | t0001 | g0064 | AMR | CLM | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01515 | hp1 | a0003 | c0003 | t0001 | g0001 | EUR | IBS | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01515 | hp2 | a0002 | c0002 | t0001 | g0261 | EUR | IBS | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01517 | hp1 | a0002 | c0002 | t0001 | g0260 | EUR | IBS | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01517 | hp2 | a0003 | c0003 | t0001 | g0034 | EUR | IBS | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01884 | hp1 | a0001 | c0001 | t0001 | g0165 | AFR | ACB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01884 | hp2 | a0004 | c0005 | t0001 | g0046 | AFR | ACB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01891 | hp1 | a0006 | c0008 | t0001 | g0013 | AFR | ACB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01891 | hp2 | a0001 | c0001 | t0001 | g0199 | AFR | ACB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01928 | hp1 | a0001 | c0001 | t0001 | g0321 | AMR | PEL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01928 | hp2 | a0001 | c0001 | t0001 | g0273 | AMR | PEL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01952 | hp1 | a0002 | c0002 | t0001 | g0238 | AMR | PEL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01952 | hp2 | a0001 | c0001 | t0001 | g0095 | AMR | PEL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01975 | hp1 | a0001 | c0001 | t0001 | g0071 | AMR | PEL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01975 | hp2 | a0001 | c0001 | t0001 | g0068 | AMR | PEL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01978 | hp1 | a0001 | c0001 | t0001 | g0266 | AMR | PEL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01978 | hp2 | a0001 | c0001 | t0001 | g0327 | AMR | PEL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01981 | hp1 | a0001 | c0001 | t0001 | g0021 | AMR | PEL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01981 | hp2 | a0003 | c0003 | t0001 | g0051 | AMR | PEL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01993 | hp1 | a0003 | c0003 | t0001 | g0022 | AMR | PEL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01993 | hp2 | a0002 | c0002 | t0001 | g0313 | AMR | PEL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02004 | hp1 | a0003 | c0003 | t0001 | g0057 | AMR | PEL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02004 | hp2 | a0002 | c0002 | t0001 | g0301 | AMR | PEL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02015 | hp1 | a0001 | c0001 | t0001 | g0214 | EAS | KHV | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02015 | hp2 | a0001 | c0001 | t0001 | g0222 | EAS | KHV | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02040 | hp1 | a0002 | c0002 | t0001 | g0160 | EAS | KHV | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02040 | hp2 | a0002 | c0002 | t0001 | g0257 | EAS | KHV | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02055 | hp1 | a0001 | c0001 | t0002 | g0325 | AFR | ACB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02055 | hp2 | a0003 | c0003 | t0001 | g0192 | AFR | ACB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02071 | hp1 | a0001 | c0001 | t0001 | g0111 | EAS | KHV | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02071 | hp2 | a0001 | c0001 | t0001 | g0070 | EAS | KHV | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02074 | hp1 | a0001 | c0001 | t0001 | g0014 | EAS | KHV | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02074 | hp2 | a0002 | c0012 | t0001 | g0292 | EAS | KHV | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02080 | hp1 | a0001 | c0001 | t0001 | g0107 | EAS | KHV | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02080 | hp2 | a0001 | c0001 | t0001 | g0162 | EAS | KHV | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02083 | hp1 | a0001 | c0001 | t0001 | g0069 | EAS | KHV | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02083 | hp2 | a0001 | c0001 | t0001 | g0182 | EAS | KHV | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02132 | hp1 | a0001 | c0001 | t0001 | g0283 | EAS | KHV | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02132 | hp2 | a0001 | c0001 | t0001 | g0265 | EAS | KHV | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02135 | hp1 | a0001 | c0001 | t0001 | g0100 | EAS | KHV | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02135 | hp2 | a0001 | c0001 | t0001 | g0314 | EAS | KHV | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02145 | hp1 | a0001 | c0001 | t0001 | g0171 | AFR | ACB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02145 | hp2 | a0003 | c0003 | t0001 | g0032 | AFR | ACB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02165 | hp1 | a0002 | c0002 | t0001 | g0245 | EAS | CDX | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02165 | hp2 | a0003 | c0003 | t0001 | g0059 | EAS | CDX | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02257 | hp1 | a0003 | c0003 | t0001 | g0062 | AFR | ACB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02257 | hp2 | a0002 | c0002 | t0001 | g0153 | AFR | ACB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02258 | hp1 | a0001 | c0001 | t0003 | g0005 | AFR | ACB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02258 | hp2 | a0002 | c0002 | t0001 | g0137 | AFR | ACB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02273 | hp1 | a0002 | c0002 | t0001 | g0274 | AMR | PEL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02273 | hp2 | a0001 | c0001 | t0001 | g0020 | AMR | PEL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02280 | hp1 | a0002 | c0002 | t0001 | g0226 | AFR | ACB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02280 | hp2 | a0001 | c0001 | t0001 | g0146 | AFR | ACB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02293 | hp1 | a0007 | c0011 | t0001 | g0326 | AMR | PEL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02293 | hp2 | a0002 | c0002 | t0001 | g0227 | AMR | PEL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02451 | hp1 | a0001 | c0001 | t0001 | g0087 | AFR | ACB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02451 | hp2 | a0001 | c0001 | t0001 | g0072 | AFR | ACB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02523 | hp1 | a0002 | c0002 | t0001 | g0342 | EAS | KHV | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02523 | hp2 | a0001 | c0001 | t0001 | g0218 | EAS | KHV | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02572 | hp1 | a0002 | c0002 | t0001 | g0076 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02572 | hp2 | a0005 | c0006 | t0001 | g0008 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02615 | hp1 | a0001 | c0001 | t0001 | g0073 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02615 | hp2 | a0001 | c0001 | t0001 | g0121 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02622 | hp1 | a0001 | c0001 | t0001 | g0081 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02622 | hp2 | a0001 | c0001 | t0001 | g0169 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02630 | hp1 | a0001 | c0001 | t0001 | g0122 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02630 | hp2 | a0001 | c0001 | t0001 | g0084 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02647 | hp1 | a0001 | c0001 | t0001 | g0141 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02647 | hp2 | a0002 | c0002 | t0001 | g0129 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02683 | hp1 | a0003 | c0003 | t0001 | g0217 | SAS | PJL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02683 | hp2 | a0001 | c0001 | t0001 | g0230 | SAS | PJL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02698 | hp1 | a0004 | c0005 | t0001 | g0025 | SAS | PJL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02698 | hp2 | a0001 | c0001 | t0001 | g0061 | SAS | PJL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02717 | hp1 | a0001 | c0001 | t0001 | g0216 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02717 | hp2 | a0001 | c0001 | t0001 | g0024 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02735 | hp1 | a0004 | c0005 | t0001 | g0056 | SAS | PJL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02735 | hp2 | a0001 | c0001 | t0001 | g0250 | SAS | PJL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02738 | hp1 | a0008 | c0010 | t0001 | g0200 | SAS | PJL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02738 | hp2 | a0002 | c0002 | t0001 | g0134 | SAS | PJL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02809 | hp1 | a0001 | c0001 | t0001 | g0233 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02809 | hp2 | a0001 | c0001 | t0001 | g0119 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02818 | hp1 | a0005 | c0006 | t0001 | g0007 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02818 | hp2 | a0001 | c0001 | t0001 | g0174 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02886 | hp1 | a0001 | c0001 | t0001 | g0176 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02886 | hp2 | a0001 | c0001 | t0001 | g0248 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02895 | hp1 | a0001 | c0001 | t0001 | g0080 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02895 | hp2 | a0002 | c0002 | t0001 | g0131 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02896 | hp1 | a0002 | c0002 | t0001 | g0128 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02896 | hp2 | a0004 | c0005 | t0001 | g0206 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02897 | hp1 | a0004 | c0005 | t0001 | g0207 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02897 | hp2 | a0002 | c0002 | t0001 | g0127 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02922 | hp1 | a0001 | c0001 | t0001 | g0085 | AFR | ESN | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02922 | hp2 | a0001 | c0001 | t0001 | g0204 | AFR | ESN | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02965 | hp1 | a0001 | c0001 | t0001 | g0086 | AFR | ESN | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02965 | hp2 | a0001 | c0001 | t0001 | g0152 | AFR | ESN | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02970 | hp1 | a0002 | c0002 | t0001 | g0203 | AFR | ESN | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02970 | hp2 | a0001 | c0001 | t0001 | g0340 | AFR | ESN | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02976 | hp1 | a0002 | c0002 | t0001 | g0148 | AFR | ESN | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02976 | hp2 | a0002 | c0002 | t0001 | g0140 | AFR | ESN | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03017 | hp1 | a0001 | c0001 | t0001 | g0300 | SAS | PJL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03017 | hp2 | a0001 | c0001 | t0001 | g0332 | SAS | PJL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03041 | hp1 | a0002 | c0002 | t0001 | g0145 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03041 | hp2 | a0001 | c0001 | t0001 | g0191 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03098 | hp1 | a0001 | c0001 | t0001 | g0092 | AFR | MSL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03098 | hp2 | a0002 | c0002 | t0001 | g0150 | AFR | MSL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03130 | hp1 | a0001 | c0001 | t0001 | g0151 | AFR | ESN | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03130 | hp2 | a0001 | c0001 | t0001 | g0083 | AFR | ESN | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03139 | hp1 | a0001 | c0001 | t0001 | g0088 | AFR | ESN | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03139 | hp2 | a0003 | c0003 | t0001 | g0044 | AFR | ESN | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03209 | hp1 | a0001 | c0001 | t0001 | g0118 | AFR | MSL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03209 | hp2 | a0001 | c0001 | t0001 | g0082 | AFR | MSL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03225 | hp1 | a0001 | c0001 | t0001 | g0202 | AFR | MSL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03225 | hp2 | a0002 | c0002 | t0001 | g0201 | AFR | MSL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03239 | hp1 | a0002 | c0002 | t0001 | g0124 | SAS | PJL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03239 | hp2 | a0002 | c0002 | t0001 | g0224 | SAS | PJL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03453 | hp1 | a0004 | c0005 | t0001 | g0284 | AFR | MSL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03453 | hp2 | a0001 | c0001 | t0001 | g0147 | AFR | MSL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03486 | hp1 | a0001 | c0001 | t0001 | g0149 | AFR | MSL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03486 | hp2 | a0001 | c0001 | t0001 | g0256 | AFR | MSL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03490 | hp1 | a0001 | c0001 | t0001 | g0323 | SAS | PJL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03490 | hp2 | a0001 | c0001 | t0001 | g0298 | SAS | PJL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03491 | hp1 | a0003 | c0003 | t0001 | g0001 | SAS | PJL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03491 | hp2 | a0002 | c0002 | t0001 | g0247 | SAS | PJL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03492 | hp1 | a0003 | c0003 | t0001 | g0001 | SAS | PJL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03492 | hp2 | a0001 | c0001 | t0001 | g0319 | SAS | PJL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03516 | hp1 | a0003 | c0003 | t0001 | g0193 | AFR | ESN | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03516 | hp2 | a0001 | c0001 | t0002 | g0075 | AFR | ESN | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03540 | hp1 | a0002 | c0002 | t0001 | g0018 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03540 | hp2 | a0001 | c0001 | t0001 | g0142 | AFR | GWD | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03579 | hp1 | a0001 | c0001 | t0001 | g0079 | AFR | MSL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03579 | hp2 | a0001 | c0001 | t0001 | g0143 | AFR | MSL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03669 | hp1 | a0001 | c0001 | t0001 | g0333 | SAS | PJL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03669 | hp2 | a0002 | c0002 | t0001 | g0258 | SAS | PJL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03688 | hp1 | a0001 | c0001 | t0001 | g0330 | SAS | STU | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03688 | hp2 | a0001 | c0001 | t0001 | g0041 | SAS | STU | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03831 | hp1 | a0001 | c0001 | t0001 | g0037 | SAS | BEB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03831 | hp2 | a0002 | c0002 | t0001 | g0194 | SAS | BEB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03834 | hp1 | a0001 | c0001 | t0001 | g0225 | SAS | BEB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03834 | hp2 | a0001 | c0001 | t0001 | g0047 | SAS | BEB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03942 | hp1 | a0001 | c0001 | t0001 | g0215 | SAS | BEB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03942 | hp2 | a0003 | c0004 | t0001 | g0108 | SAS | BEB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG04115 | hp1 | a0002 | c0002 | t0001 | g0253 | SAS | STU | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG04115 | hp2 | a0002 | c0002 | t0001 | g0322 | SAS | STU | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG04184 | hp1 | a0004 | c0005 | t0001 | g0211 | SAS | BEB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG04184 | hp2 | a0002 | c0002 | t0001 | g0228 | SAS | BEB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG04204 | hp1 | a0001 | c0001 | t0001 | g0102 | SAS | STU | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG04204 | hp2 | a0002 | c0002 | t0001 | g0221 | SAS | STU | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG04228 | hp1 | a0001 | c0001 | t0001 | g0316 | SAS | STU | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG04228 | hp2 | a0003 | c0004 | t0001 | g0213 | SAS | STU | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18522 | hp1 | a0002 | c0002 | t0001 | g0138 | AFR | YRI | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18522 | hp2 | a0001 | c0001 | t0001 | g0091 | AFR | YRI | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18612 | hp1 | a0001 | c0001 | t0001 | g0242 | EAS | CHB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18612 | hp2 | a0001 | c0001 | t0001 | g0093 | EAS | CHB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18747 | hp1 | a0002 | c0002 | t0001 | g0219 | EAS | CHB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18747 | hp2 | a0001 | c0001 | t0001 | g0294 | EAS | CHB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18906 | hp1 | a0005 | c0006 | t0001 | g0010 | AFR | YRI | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18906 | hp2 | a0001 | c0001 | t0001 | g0198 | AFR | YRI | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18939 | hp1 | a0003 | c0003 | t0001 | g0268 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18939 | hp2 | a0001 | c0001 | t0001 | g0096 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18941 | hp1 | a0001 | c0001 | t0001 | g0295 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18941 | hp2 | a0003 | c0003 | t0001 | g0017 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18942 | hp1 | a0001 | c0001 | t0001 | g0277 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18942 | hp2 | a0001 | c0001 | t0001 | g0235 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18943 | hp1 | a0001 | c0001 | t0001 | g0188 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18943 | hp2 | a0001 | c0001 | t0001 | g0170 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18946 | hp1 | a0001 | c0001 | t0001 | g0161 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18946 | hp2 | a0001 | c0001 | t0001 | g0189 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18947 | hp1 | a0002 | c0009 | t0001 | g0308 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18947 | hp2 | a0003 | c0003 | t0001 | g0002 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18948 | hp1 | a0001 | c0001 | t0001 | g0187 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18948 | hp2 | a0003 | c0003 | t0001 | g0067 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18949 | hp1 | a0001 | c0001 | t0001 | g0341 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18949 | hp2 | a0001 | c0001 | t0001 | g0318 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18950 | hp1 | a0001 | c0001 | t0001 | g0156 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18950 | hp2 | a0001 | c0001 | t0001 | g0175 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18952 | hp1 | a0001 | c0001 | t0001 | g0281 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18952 | hp2 | a0001 | c0001 | t0001 | g0209 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18959 | hp1 | a0001 | c0001 | t0001 | g0098 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18959 | hp2 | a0002 | c0002 | t0001 | g0328 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18961 | hp1 | a0001 | c0001 | t0001 | g0099 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18961 | hp2 | a0001 | c0001 | t0001 | g0297 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18964 | hp1 | a0001 | c0001 | t0001 | g0163 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18964 | hp2 | a0003 | c0003 | t0001 | g0002 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18967 | hp1 | a0003 | c0003 | t0001 | g0263 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18967 | hp2 | a0001 | c0001 | t0001 | g0196 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18968 | hp1 | a0001 | c0001 | t0001 | g0296 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18968 | hp2 | a0002 | c0002 | t0001 | g0210 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18969 | hp1 | a0001 | c0001 | t0001 | g0287 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18969 | hp2 | a0001 | c0001 | t0001 | g0164 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18970 | hp1 | a0001 | c0001 | t0001 | g0016 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18970 | hp2 | a0003 | c0003 | t0001 | g0267 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18971 | hp1 | a0001 | c0001 | t0001 | g0240 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18971 | hp2 | a0001 | c0001 | t0001 | g0036 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18973 | hp1 | a0001 | c0001 | t0001 | g0302 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18973 | hp2 | a0002 | c0002 | t0001 | g0158 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18975 | hp1 | a0003 | c0003 | t0001 | g0002 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18975 | hp2 | a0001 | c0001 | t0001 | g0241 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18977 | hp1 | a0001 | c0001 | t0001 | g0185 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18977 | hp2 | a0003 | c0003 | t0001 | g0255 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18979 | hp1 | a0002 | c0002 | t0001 | g0229 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18979 | hp2 | a0003 | c0003 | t0001 | g0264 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18983 | hp1 | a0002 | c0002 | t0001 | g0251 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18983 | hp2 | a0001 | c0001 | t0001 | g0303 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18984 | hp1 | a0001 | c0001 | t0001 | g0280 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18984 | hp2 | a0001 | c0001 | t0001 | g0114 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18985 | hp1 | a0003 | c0003 | t0001 | g0031 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18985 | hp2 | a0001 | c0001 | t0001 | g0178 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18986 | hp1 | a0003 | c0004 | t0001 | g0053 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18986 | hp2 | a0002 | c0002 | t0001 | g0279 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18990 | hp1 | a0001 | c0001 | t0001 | g0183 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18990 | hp2 | a0001 | c0001 | t0001 | g0285 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18994 | hp1 | a0001 | c0001 | t0001 | g0195 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18994 | hp2 | a0001 | c0001 | t0001 | g0212 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18995 | hp1 | a0001 | c0001 | t0001 | g0338 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18995 | hp2 | a0001 | c0001 | t0001 | g0166 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18997 | hp1 | a0001 | c0001 | t0001 | g0288 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18997 | hp2 | a0001 | c0001 | t0001 | g0026 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18998 | hp1 | a0001 | c0001 | t0001 | g0184 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18998 | hp2 | a0001 | c0001 | t0001 | g0159 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19002 | hp1 | a0001 | c0001 | t0001 | g0293 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19002 | hp2 | a0001 | c0001 | t0001 | g0115 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19004 | hp1 | a0001 | c0001 | t0001 | g0220 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19004 | hp2 | a0003 | c0003 | t0001 | g0035 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19005 | hp1 | a0003 | c0003 | t0001 | g0270 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19005 | hp2 | a0001 | c0001 | t0001 | g0307 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19009 | hp1 | a0001 | c0001 | t0001 | g0331 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19009 | hp2 | a0001 | c0001 | t0001 | g0177 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19011 | hp1 | a0003 | c0004 | t0001 | g0015 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19011 | hp2 | a0001 | c0001 | t0001 | g0181 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19030 | hp1 | a0001 | c0001 | t0001 | g0077 | AFR | LWK | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19030 | hp2 | a0001 | c0001 | t0001 | g0339 | AFR | LWK | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19043 | hp1 | a0001 | c0001 | t0001 | g0123 | AFR | LWK | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19043 | hp2 | a0002 | c0002 | t0001 | g0116 | AFR | LWK | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19057 | hp1 | a0001 | c0001 | t0001 | g0094 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19057 | hp2 | a0001 | c0001 | t0001 | g0276 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19064 | hp1 | a0001 | c0001 | t0001 | g0282 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19064 | hp2 | a0001 | c0001 | t0001 | g0334 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19068 | hp1 | a0001 | c0001 | t0001 | g0312 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19068 | hp2 | a0001 | c0001 | t0001 | g0168 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19074 | hp1 | a0002 | c0002 | t0001 | g0329 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19074 | hp2 | a0001 | c0001 | t0001 | g0097 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19075 | hp1 | a0001 | c0001 | t0001 | g0110 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19075 | hp2 | a0001 | c0001 | t0001 | g0290 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19079 | hp1 | a0001 | c0001 | t0001 | g0186 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19079 | hp2 | a0003 | c0003 | t0001 | g0234 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19087 | hp1 | a0001 | c0001 | t0001 | g0172 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19087 | hp2 | a0001 | c0001 | t0001 | g0306 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19088 | hp1 | a0001 | c0001 | t0001 | g0337 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19088 | hp2 | a0003 | c0003 | t0001 | g0269 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19090 | hp1 | a0001 | c0001 | t0001 | g0249 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19090 | hp2 | a0001 | c0001 | t0001 | g0028 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19091 | hp1 | a0001 | c0001 | t0001 | g0105 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19091 | hp2 | a0002 | c0002 | t0001 | g0315 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19240 | hp1 | a0001 | c0001 | t0001 | g0157 | AFR | YRI | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA19240 | hp2 | a0001 | c0001 | t0001 | g0089 | AFR | YRI | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA20129 | hp1 | a0005 | c0006 | t0001 | g0009 | AFR | ASW | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA20129 | hp2 | a0001 | c0001 | t0001 | g0019 | AFR | ASW | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA20752 | hp1 | a0001 | c0001 | t0001 | g0289 | EUR | TSI | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA20752 | hp2 | a0004 | c0007 | t0001 | g0106 | EUR | TSI | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA20805 | hp1 | a0003 | c0004 | t0001 | g0040 | EUR | TSI | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA20805 | hp2 | a0003 | c0003 | t0001 | g0003 | EUR | TSI | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA20905 | hp1 | a0003 | c0004 | t0001 | g0109 | SAS | GIH | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA20905 | hp2 | a0001 | c0001 | t0001 | g0223 | SAS | GIH | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01123 | hp1 | a0003 | c0003 | t0001 | g0043 | AMR | CLM | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG01123 | hp2 | a0002 | c0002 | t0001 | g0335 | AMR | CLM | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02486 | hp1 | a0001 | c0001 | t0001 | g0208 | AFR | ACB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02486 | hp2 | a0005 | c0006 | t0001 | g0012 | AFR | ACB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02559 | hp1 | a0001 | c0001 | t0001 | g0154 | AFR | ACB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG02559 | hp2 | a0001 | c0001 | t0001 | g0090 | AFR | ACB | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03471 | hp1 | a0001 | c0001 | t0001 | g0074 | AFR | MSL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG03471 | hp2 | a0005 | c0006 | t0001 | g0011 | AFR | MSL | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG06807 | hp1 | a0005 | c0006 | t0002 | g0006 | AFR | USA | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| HG06807 | hp2 | a0001 | c0001 | t0001 | g0155 | AFR | USA | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18955 | hp1 | a0001 | c0001 | t0001 | g0103 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA18955 | hp2 | a0001 | c0001 | t0001 | g0309 | EAS | JPT | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA20300 | hp1 | a0003 | c0003 | t0001 | g0205 | AFR | USA | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA20300 | hp2 | a0002 | c0002 | t0001 | g0336 | AFR | USA | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA21309 | hp1 | a0001 | c0001 | t0001 | g0120 | AFR | LWK | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| NA21309 | hp2 | a0010 | c0014 | t0001 | g0048 | AFR | LWK | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| homoSapiens_chm13v2 | hp1 | a0002 | c0002 | t0001 | g0190 | REF | REF | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| homoSapiens_grch38 | hp1 | a0001 | c0001 | t0001 | g0304 | REF | REF | PEMT_chr17_17500563_17596708 | PEMT | chr17 | 17500563 | 17596708 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr17:17506246
|
C | T | 4 | a0002a0003a0006others(1): Show | 134 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(131): Show |
missense_variant | MODERATE | c.634G>A | p.Val212Met | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 6/7 | 716/1021 | 634/711 | 212/236 | chr17 | 17506246 | ||
| chr17:17509507
|
C | T | 1 | a0008 | 1 | HG02738.hp1 | missense_variant | MODERATE | c.505G>A | p.Val169Met | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/7 | 587/1021 | 505/711 | 169/236 | chr17 | 17509507 | ||
| chr17:17512649
|
G | A | 1 | a0007 | 1 | HG02293.hp1 | missense_variant | MODERATE | c.326C>T | p.Thr109Met | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/7 | 408/1021 | 326/711 | 109/236 | chr17 | 17512649 | ||
| chr17:17522317
|
C | T | 2 | a0003a0004 | 69 | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(66): Show |
missense_variant | MODERATE | c.283G>A | p.Val95Ile | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/7 | 365/1021 | 283/711 | 95/236 | chr17 | 17522317 | ||
| chr17:17577006
|
G | A | 2 | a0009a0010 | 2 | HG01358.hp1 NA21309.hp2 |
missense_variant | MODERATE | c.118C>T | p.Arg40Trp | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/7 | 200/1021 | 118/711 | 40/236 | chr17 | 17577006 | ||
| chr17:17591595
|
A | G | 2 | a0005a0006 | 8 | HG01891.hp1 HG02486.hp2 HG02572.hp2 others(5): Show |
missense_variant | MODERATE | c.32T>C | p.Val11Ala | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/7 | 114/1021 | 32/711 | 11/236 | chr17 | 17591595 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr17:17512579
|
C | T | 3 | a0002c0009a0003c0004a0004c0007 | 11 | HG01192.hp2 HG01257.hp2 HG01261.hp1 others(8): Show |
synonymous_variant | LOW | c.396G>A | p.Ala132Ala | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/7 | 478/1021 | 396/711 | 132/236 | chr17 | 17512579 | ||
| chr17:17577003
|
G | A | 1 | a0002c0012 | 1 | HG02074.hp2 | synonymous_variant | LOW | c.121C>T | p.Leu41Leu | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/7 | 203/1021 | 121/711 | 41/236 | chr17 | 17577003 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr17:17505718
|
C | A | 2 | a0001c0001t0002a0005c0006t0002 | 3 | HG02055.hp1 HG03516.hp2 HG06807.hp1 |
3_prime_UTR_variant | MODIFIER | c.*73G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 7/7 | 73 | chr17 | 17505718 | |||||
| chr17:17591640
|
C | T | 1 | a0001c0001t0003 | 1 | HG02258.hp1 | 5_prime_UTR_variant | MODIFIER | c.-14G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/7 | 14 | chr17 | 17591640 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr17:17506016
|
C | T | 2 | a0001c0001t0001g0120a0001c0001t0003g0005 | 2 | HG02258.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.654-168G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 6/6 | chr17 | 17506016 | ||||||
| chr17:17506042
|
G | C | 1 | a0001c0001t0001g0290 | 1 | NA19075.hp2 | intron_variant | MODIFIER | c.653+185C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 6/6 | chr17 | 17506042 | ||||||
| chr17:17506043
|
C | T | 1 | a0001c0001t0001g0290 | 1 | NA19075.hp2 | intron_variant | MODIFIER | c.653+184G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 6/6 | chr17 | 17506043 | ||||||
| chr17:17506087
|
G | A | 123 | a0001c0001t0001g0277a0001c0001t0001g0281a0001c0001t0001g0302others(120): Show | 129 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(126): Show |
intron_variant | MODIFIER | c.653+140C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 6/6 | chr17 | 17506087 | ||||||
| chr17:17506369
|
C | T | 48 | a0001c0001t0001g0024a0001c0001t0001g0069a0001c0001t0001g0103others(45): Show | 48 | HG00423.hp1 HG00438.hp2 HG01099.hp1 others(45): Show |
intron_variant | MODIFIER | c.579-68G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17506369 | ||||||
| chr17:17506395
|
T | A | 139 | a0001c0001t0001g0082a0001c0001t0001g0088a0001c0001t0001g0091others(136): Show | 145 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(142): Show |
intron_variant | MODIFIER | c.579-94A>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17506395 | ||||||
| chr17:17506484
|
G | C | 2 | a0001c0001t0001g0318a0001c0001t0001g0338 | 2 | NA18949.hp2 NA18995.hp1 |
intron_variant | MODIFIER | c.579-183C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17506484 | ||||||
| chr17:17506590
|
C | T | 3 | a0001c0001t0001g0091a0001c0001t0001g0092a0001c0001t0001g0191 | 3 | HG03041.hp2 HG03098.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.579-289G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17506590 | ||||||
| chr17:17506623
|
G | A | 5 | a0001c0001t0001g0082a0001c0001t0001g0088a0001c0001t0001g0091others(2): Show | 5 | HG03041.hp2 HG03098.hp1 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.579-322C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17506623 | ||||||
| chr17:17506663
|
GAGGAGAT others(8): Show |
G | 1 | a0001c0001t0001g0290 | 1 | NA19075.hp2 | intron_variant | MODIFIER | c.579-377_579-363del others(15): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17506663 | ||||||
| chr17:17506739
|
A | G | 260 | a0001c0001t0001g0024a0001c0001t0001g0036a0001c0001t0001g0037others(257): Show | 266 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(263): Show |
intron_variant | MODIFIER | c.579-438T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17506739 | ||||||
| chr17:17506999
|
C | T | 1 | a0002c0002t0001g0150 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.579-698G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17506999 | ||||||
| chr17:17507048
|
C | T | 1 | a0003c0003t0001g0310 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.579-747G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17507048 | ||||||
| chr17:17507055
|
C | G | 3 | a0001c0001t0002g0075a0001c0001t0002g0325a0005c0006t0002g0006 | 3 | HG02055.hp1 HG03516.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.579-754G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17507055 | ||||||
| chr17:17507155
|
A | G | 5 | a0001c0001t0001g0074a0001c0001t0001g0079a0001c0001t0001g0089others(2): Show | 5 | HG02559.hp2 HG02615.hp2 HG03471.hp1 others(2): Show |
intron_variant | MODIFIER | c.579-854T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17507155 | ||||||
| chr17:17507193
|
T | C | 22 | a0001c0001t0001g0078a0001c0001t0001g0082a0001c0001t0001g0088others(19): Show | 22 | HG01109.hp1 HG02055.hp1 HG02258.hp1 others(19): Show |
intron_variant | MODIFIER | c.579-892A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17507193 | ||||||
| chr17:17507208
|
A | G | 19 | a0001c0001t0001g0078a0001c0001t0001g0082a0001c0001t0001g0088others(16): Show | 19 | HG01109.hp1 HG02258.hp1 HG02258.hp2 others(16): Show |
intron_variant | MODIFIER | c.579-907T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17507208 | ||||||
| chr17:17507279
|
C | T | 2 | a0001c0001t0001g0222a0001c0001t0001g0225 | 2 | HG02015.hp2 HG03834.hp1 |
intron_variant | MODIFIER | c.579-978G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17507279 | ||||||
| chr17:17507373
|
G | A | 1 | a0001c0001t0001g0111 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.579-1072C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17507373 | ||||||
| chr17:17507374
|
C | T | 1 | a0001c0001t0001g0111 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.579-1073G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17507374 | ||||||
| chr17:17507603
|
A | T | 1 | a0001c0001t0001g0110 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.579-1302T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17507603 | ||||||
| chr17:17507660
|
G | A | 1 | a0001c0001t0001g0091 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.579-1359C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17507660 | ||||||
| chr17:17507716
|
A | G | 31 | a0001c0001t0001g0036a0001c0001t0001g0037a0001c0001t0001g0041others(28): Show | 31 | HG00099.hp1 HG00423.hp2 HG00544.hp1 others(28): Show |
intron_variant | MODIFIER | c.579-1415T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17507716 | ||||||
| chr17:17507732
|
A | AG | 341 | a0001c0001t0001g0014a0001c0001t0001g0016a0001c0001t0001g0019others(338): Show | 347 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(344): Show |
intron_variant | MODIFIER | c.579-1432dupC | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17507732 | ||||||
| chr17:17507742
|
C | T | 4 | a0005c0006t0001g0009a0005c0006t0001g0010a0005c0006t0001g0011others(1): Show | 4 | HG02486.hp2 HG03471.hp2 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.579-1441G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17507742 | ||||||
| chr17:17507764
|
C | G | 4 | a0005c0006t0001g0009a0005c0006t0001g0010a0005c0006t0001g0011others(1): Show | 4 | HG02486.hp2 HG03471.hp2 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.579-1463G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17507764 | ||||||
| chr17:17507792
|
T | C | 1 | a0001c0001t0001g0290 | 1 | NA19075.hp2 | intron_variant | MODIFIER | c.579-1491A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17507792 | ||||||
| chr17:17507872
|
C | T | 1 | a0002c0002t0001g0124 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.578+1562G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17507872 | ||||||
| chr17:17507897
|
C | T | 120 | a0001c0001t0001g0105a0001c0001t0001g0215a0002c0002t0001g0004others(117): Show | 126 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(123): Show |
intron_variant | MODIFIER | c.578+1537G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17507897 | ||||||
| chr17:17507907
|
G | A | 2 | a0001c0001t0001g0120a0001c0001t0003g0005 | 2 | HG02258.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.578+1527C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17507907 | ||||||
| chr17:17507953
|
T | C | 4 | a0001c0001t0001g0157a0001c0001t0001g0171a0001c0001t0001g0198others(1): Show | 4 | HG01891.hp2 HG02145.hp1 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.578+1481A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17507953 | ||||||
| chr17:17508032
|
C | T | 1 | a0001c0001t0001g0314 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.578+1402G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17508032 | ||||||
| chr17:17508051
|
G | C | 5 | a0001c0001t0001g0091a0001c0001t0001g0092a0001c0001t0001g0191others(2): Show | 5 | HG00741.hp2 HG01433.hp1 HG03041.hp2 others(2): Show |
intron_variant | MODIFIER | c.578+1383C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17508051 | ||||||
| chr17:17508102
|
C | T | 1 | a0001c0001t0001g0165 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.578+1332G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17508102 | ||||||
| chr17:17508188
|
C | G | 2 | a0001c0001t0001g0082a0001c0001t0001g0088 | 2 | HG03139.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.578+1246G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17508188 | ||||||
| chr17:17508207
|
G | T | 2 | a0001c0001t0001g0096a0002c0002t0001g0238 | 2 | HG01952.hp1 NA18939.hp2 |
intron_variant | MODIFIER | c.578+1227C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17508207 | ||||||
| chr17:17508275
|
TG | T | 9 | a0001c0001t0001g0078a0001c0001t0001g0120a0001c0001t0001g0141others(6): Show | 9 | HG01109.hp1 HG02258.hp1 HG02486.hp2 others(6): Show |
intron_variant | MODIFIER | c.578+1158delC | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17508275 | ||||||
| chr17:17508363
|
G | A | 1 | a0001c0001t0001g0084 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.578+1071C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17508363 | ||||||
| chr17:17508402
|
C | G | 1 | a0001c0001t0001g0019 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.578+1032G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17508402 | ||||||
| chr17:17508470
|
G | A | 2 | a0001c0001t0001g0082a0001c0001t0001g0088 | 2 | HG03139.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.578+964C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17508470 | ||||||
| chr17:17508471
|
G | A | 1 | a0008c0010t0001g0200 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.578+963C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17508471 | ||||||
| chr17:17508577
|
A | C | 2 | a0001c0001t0001g0082a0001c0001t0001g0088 | 2 | HG03139.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.578+857T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17508577 | ||||||
| chr17:17508664
|
T | C | 2 | a0002c0002t0001g0126a0002c0002t0001g0136 | 2 | HG00099.hp2 HG00639.hp1 |
intron_variant | MODIFIER | c.578+770A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17508664 | ||||||
| chr17:17508718
|
G | C | 261 | a0001c0001t0001g0024a0001c0001t0001g0036a0001c0001t0001g0037others(258): Show | 267 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(264): Show |
intron_variant | MODIFIER | c.578+716C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17508718 | ||||||
| chr17:17508893
|
C | T | 4 | a0005c0006t0001g0009a0005c0006t0001g0010a0005c0006t0001g0011others(1): Show | 4 | HG02486.hp2 HG03471.hp2 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.578+541G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17508893 | ||||||
| chr17:17508966
|
C | T | 2 | a0004c0005t0001g0206a0004c0005t0001g0207 | 2 | HG02896.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.578+468G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17508966 | ||||||
| chr17:17509133
|
C | T | 1 | a0001c0001t0001g0069 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.578+301G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17509133 | ||||||
| chr17:17509243
|
T | G | 2 | a0001c0001t0001g0082a0001c0001t0001g0088 | 2 | HG03139.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.578+191A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 5/6 | chr17 | 17509243 | ||||||
| chr17:17509573
|
C | T | 2 | a0001c0001t0001g0141a0003c0003t0001g0217 | 2 | HG02647.hp1 HG02683.hp1 |
intron_variant | MODIFIER | c.467-28G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17509573 | ||||||
| chr17:17509635
|
G | A | 3 | a0001c0001t0001g0091a0001c0001t0001g0092a0001c0001t0001g0191 | 3 | HG03041.hp2 HG03098.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.467-90C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17509635 | ||||||
| chr17:17509699
|
T | G | 3 | a0002c0002t0001g0221a0002c0002t0001g0257a0004c0005t0001g0211 | 3 | HG02040.hp2 HG04184.hp1 HG04204.hp2 |
intron_variant | MODIFIER | c.467-154A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17509699 | ||||||
| chr17:17509733
|
G | A | 10 | a0001c0001t0001g0107a0001c0001t0001g0113a0001c0001t0001g0114others(7): Show | 10 | HG00673.hp2 HG02015.hp1 HG02080.hp1 others(7): Show |
intron_variant | MODIFIER | c.467-188C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17509733 | ||||||
| chr17:17509766
|
C | T | 8 | a0001c0001t0001g0047a0001c0001t0001g0102a0001c0001t0001g0176others(5): Show | 8 | HG02886.hp1 HG02970.hp2 HG03017.hp2 others(5): Show |
intron_variant | MODIFIER | c.467-221G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17509766 | ||||||
| chr17:17509862
|
C | T | 2 | a0002c0002t0001g0232a0002c0002t0001g0335 | 2 | HG01081.hp2 HG01123.hp2 |
intron_variant | MODIFIER | c.467-317G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17509862 | ||||||
| chr17:17509893
|
C | T | 4 | a0005c0006t0001g0009a0005c0006t0001g0010a0005c0006t0001g0011others(1): Show | 4 | HG02486.hp2 HG03471.hp2 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.467-348G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17509893 | ||||||
| chr17:17509895
|
C | G | 2 | a0004c0005t0001g0206a0004c0005t0001g0207 | 2 | HG02896.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.467-350G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17509895 | ||||||
| chr17:17509980
|
C | G | 1 | a0003c0003t0001g0311 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.467-435G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17509980 | ||||||
| chr17:17509997
|
C | T | 53 | a0001c0001t0001g0024a0001c0001t0001g0069a0001c0001t0001g0077others(50): Show | 53 | HG00423.hp1 HG00438.hp2 HG01099.hp1 others(50): Show |
intron_variant | MODIFIER | c.467-452G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17509997 | ||||||
| chr17:17510136
|
C | T | 6 | a0001c0001t0001g0078a0001c0001t0001g0157a0001c0001t0001g0171others(3): Show | 6 | HG01109.hp1 HG01891.hp2 HG02145.hp1 others(3): Show |
intron_variant | MODIFIER | c.467-591G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17510136 | ||||||
| chr17:17510212
|
A | G | 1 | a0001c0001t0002g0075 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.467-667T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17510212 | ||||||
| chr17:17510235
|
G | A | 1 | a0003c0003t0001g0023 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.467-690C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17510235 | ||||||
| chr17:17510342
|
C | T | 1 | a0002c0002t0001g0138 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.467-797G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17510342 | ||||||
| chr17:17510501
|
A | G | 3 | a0001c0001t0001g0082a0001c0001t0001g0088a0001c0001t0001g0141 | 3 | HG02647.hp1 HG03139.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.467-956T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17510501 | ||||||
| chr17:17510557
|
C | T | 4 | a0005c0006t0001g0009a0005c0006t0001g0010a0005c0006t0001g0011others(1): Show | 4 | HG02486.hp2 HG03471.hp2 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.467-1012G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17510557 | ||||||
| chr17:17510651
|
T | C | 13 | a0001c0001t0001g0091a0001c0001t0001g0154a0001c0001t0001g0202others(10): Show | 14 | HG01069.hp1 HG01071.hp1 HG01099.hp2 others(11): Show |
intron_variant | MODIFIER | c.467-1106A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17510651 | ||||||
| chr17:17510655
|
G | A | 1 | a0001c0001t0001g0141 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.467-1110C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17510655 | ||||||
| chr17:17510656
|
C | T | 1 | a0002c0002t0001g0138 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.467-1111G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17510656 | ||||||
| chr17:17510681
|
G | A | 2 | a0001c0001t0001g0078a0001c0001t0001g0208 | 2 | HG01109.hp1 HG02486.hp1 |
intron_variant | MODIFIER | c.467-1136C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17510681 | ||||||
| chr17:17510819
|
C | T | 1 | a0003c0003t0001g0217 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.467-1274G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17510819 | ||||||
| chr17:17510969
|
T | G | 13 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0074others(10): Show | 13 | HG02258.hp2 HG02451.hp2 HG02559.hp2 others(10): Show |
intron_variant | MODIFIER | c.467-1424A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17510969 | ||||||
| chr17:17511280
|
T | C | 332 | a0001c0001t0001g0014a0001c0001t0001g0016a0001c0001t0001g0019others(329): Show | 338 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(335): Show |
intron_variant | MODIFIER | c.466+1229A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17511280 | ||||||
| chr17:17511525
|
A | T | 4 | a0001c0001t0001g0141a0001c0001t0001g0152a0004c0005t0001g0206others(1): Show | 4 | HG02647.hp1 HG02896.hp2 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.466+984T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17511525 | ||||||
| chr17:17511681
|
G | A | 5 | a0001c0001t0001g0340a0005c0006t0001g0009a0005c0006t0001g0010others(2): Show | 5 | HG02486.hp2 HG02970.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.466+828C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17511681 | ||||||
| chr17:17511743
|
G | C | 1 | a0001c0001t0001g0186 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.466+766C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17511743 | ||||||
| chr17:17511903
|
T | C | 71 | a0002c0002t0001g0117a0002c0002t0001g0124a0002c0002t0001g0125others(68): Show | 76 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(73): Show |
intron_variant | MODIFIER | c.466+606A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17511903 | ||||||
| chr17:17511920
|
A | G | 1 | a0002c0002t0001g0197 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.466+589T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17511920 | ||||||
| chr17:17512037
|
G | A | 3 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0184 | 3 | HG02451.hp2 HG02615.hp1 NA18998.hp1 |
intron_variant | MODIFIER | c.466+472C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17512037 | ||||||
| chr17:17512046
|
C | T | 1 | a0001c0001t0001g0120 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.466+463G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17512046 | ||||||
| chr17:17512074
|
G | A | 4 | a0001c0001t0001g0141a0001c0001t0001g0152a0004c0005t0001g0206others(1): Show | 4 | HG02647.hp1 HG02896.hp2 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.466+435C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17512074 | ||||||
| chr17:17512412
|
C | T | 1 | a0001c0001t0003g0005 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.466+97G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 4/6 | chr17 | 17512412 | ||||||
| chr17:17512799
|
G | C | 4 | a0001c0001t0001g0157a0001c0001t0001g0171a0001c0001t0001g0198others(1): Show | 4 | HG01891.hp2 HG02145.hp1 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.321-145C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17512799 | ||||||
| chr17:17512900
|
C | T | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0082others(1): Show | 4 | HG02451.hp2 HG02615.hp1 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.321-246G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17512900 | ||||||
| chr17:17512993
|
A | G | 3 | a0001c0001t0001g0028a0001c0001t0001g0262a0001c0001t0001g0334 | 3 | HG00408.hp2 NA19064.hp2 NA19090.hp2 |
intron_variant | MODIFIER | c.321-339T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17512993 | ||||||
| chr17:17513372
|
G | A | 1 | a0001c0001t0001g0218 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.321-718C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17513372 | ||||||
| chr17:17513464
|
G | A | 1 | a0001c0001t0001g0294 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.321-810C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17513464 | ||||||
| chr17:17513569
|
C | T | 1 | a0002c0002t0001g0018 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.321-915G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17513569 | ||||||
| chr17:17513714
|
G | A | 2 | a0004c0005t0001g0206a0004c0005t0001g0207 | 2 | HG02896.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.321-1060C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17513714 | ||||||
| chr17:17513777
|
G | T | 1 | a0002c0002t0001g0342 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.321-1123C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17513777 | ||||||
| chr17:17513855
|
T | A | 84 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0082others(81): Show | 89 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(86): Show |
intron_variant | MODIFIER | c.321-1201A>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17513855 | ||||||
| chr17:17513912
|
C | A | 1 | a0001c0001t0001g0291 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.321-1258G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17513912 | ||||||
| chr17:17514107
|
A | C | 1 | a0001c0001t0001g0209 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.321-1453T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17514107 | ||||||
| chr17:17514209
|
C | T | 1 | a0002c0002t0001g0076 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.321-1555G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17514209 | ||||||
| chr17:17514280
|
G | A | 9 | a0001c0001t0001g0077a0001c0001t0001g0080a0001c0001t0001g0081others(6): Show | 9 | HG02451.hp1 HG02622.hp1 HG02622.hp2 others(6): Show |
intron_variant | MODIFIER | c.321-1626C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17514280 | ||||||
| chr17:17514292
|
G | A | 1 | a0003c0004t0001g0063 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.321-1638C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17514292 | ||||||
| chr17:17514494
|
C | T | 16 | a0003c0003t0001g0001a0003c0003t0001g0003a0003c0003t0001g0027others(13): Show | 19 | HG00323.hp2 HG00639.hp2 HG01081.hp1 others(16): Show |
intron_variant | MODIFIER | c.321-1840G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17514494 | ||||||
| chr17:17514518
|
C | T | 4 | a0001c0001t0001g0091a0001c0001t0001g0092a0001c0001t0001g0165others(1): Show | 4 | HG01884.hp1 HG03041.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.321-1864G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17514518 | ||||||
| chr17:17514805
|
G | A | 1 | a0003c0003t0001g0067 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.321-2151C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17514805 | ||||||
| chr17:17514984
|
A | T | 4 | a0001c0001t0001g0141a0001c0001t0001g0152a0004c0005t0001g0206others(1): Show | 4 | HG02647.hp1 HG02896.hp2 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.321-2330T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17514984 | ||||||
| chr17:17514990
|
C | A | 1 | a0003c0004t0001g0015 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.321-2336G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17514990 | ||||||
| chr17:17514990
|
C | T | 1 | a0001c0001t0001g0250 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.321-2336G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17514990 | ||||||
| chr17:17515070
|
G | C | 1 | a0001c0001t0001g0209 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.321-2416C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17515070 | ||||||
| chr17:17515118
|
C | G | 9 | a0001c0001t0001g0141a0001c0001t0001g0152a0001c0001t0001g0340others(6): Show | 9 | HG02486.hp2 HG02647.hp1 HG02896.hp2 others(6): Show |
intron_variant | MODIFIER | c.321-2464G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17515118 | ||||||
| chr17:17515118
|
C | T | 9 | a0001c0001t0001g0157a0001c0001t0001g0171a0001c0001t0001g0198others(6): Show | 9 | HG01192.hp1 HG01891.hp2 HG02145.hp1 others(6): Show |
intron_variant | MODIFIER | c.321-2464G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17515118 | ||||||
| chr17:17515130
|
C | T | 3 | a0001c0001t0001g0092a0001c0001t0001g0165a0001c0001t0001g0191 | 3 | HG01884.hp1 HG03041.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.321-2476G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17515130 | ||||||
| chr17:17515187
|
A | G | 1 | a0001c0001t0001g0275 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.321-2533T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17515187 | ||||||
| chr17:17515280
|
A | G | 209 | a0001c0001t0001g0024a0001c0001t0001g0036a0001c0001t0001g0037others(206): Show | 214 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(211): Show |
intron_variant | MODIFIER | c.321-2626T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17515280 | ||||||
| chr17:17515421
|
C | A | 10 | a0001c0001t0001g0107a0001c0001t0001g0111a0001c0001t0001g0113others(7): Show | 10 | HG00673.hp2 HG02071.hp1 HG02080.hp1 others(7): Show |
intron_variant | MODIFIER | c.321-2767G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17515421 | ||||||
| chr17:17515538
|
G | A | 4 | a0001c0001t0001g0091a0001c0001t0001g0092a0001c0001t0001g0165others(1): Show | 4 | HG01884.hp1 HG03041.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.321-2884C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17515538 | ||||||
| chr17:17515876
|
C | T | 1 | a0002c0002t0001g0148 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.321-3222G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17515876 | ||||||
| chr17:17515907
|
G | A | 1 | a0001c0001t0001g0314 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.321-3253C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17515907 | ||||||
| chr17:17516024
|
G | C | 199 | a0001c0001t0001g0024a0001c0001t0001g0036a0001c0001t0001g0037others(196): Show | 204 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(201): Show |
intron_variant | MODIFIER | c.321-3370C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17516024 | ||||||
| chr17:17516567
|
C | T | 4 | a0001c0001t0001g0091a0001c0001t0001g0092a0001c0001t0001g0165others(1): Show | 4 | HG01884.hp1 HG03041.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.321-3913G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17516567 | ||||||
| chr17:17516615
|
C | A | 5 | a0001c0001t0001g0340a0005c0006t0001g0009a0005c0006t0001g0010others(2): Show | 5 | HG02486.hp2 HG02970.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.321-3961G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17516615 | ||||||
| chr17:17516837
|
T | C | 207 | a0001c0001t0001g0024a0001c0001t0001g0036a0001c0001t0001g0037others(204): Show | 212 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(209): Show |
intron_variant | MODIFIER | c.321-4183A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17516837 | ||||||
| chr17:17516847
|
C | T | 2 | a0001c0001t0003g0005a0006c0008t0001g0013 | 2 | HG01891.hp1 HG02258.hp1 |
intron_variant | MODIFIER | c.321-4193G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17516847 | ||||||
| chr17:17516880
|
C | A | 4 | a0001c0001t0001g0141a0001c0001t0001g0152a0004c0005t0001g0206others(1): Show | 4 | HG02647.hp1 HG02896.hp2 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.321-4226G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17516880 | ||||||
| chr17:17516885
|
G | A | 49 | a0002c0002t0001g0158a0002c0002t0001g0194a0003c0003t0001g0001others(46): Show | 54 | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(51): Show |
intron_variant | MODIFIER | c.321-4231C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17516885 | ||||||
| chr17:17516903
|
C | T | 1 | a0001c0001t0001g0120 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.321-4249G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17516903 | ||||||
| chr17:17516904
|
T | G | 207 | a0001c0001t0001g0024a0001c0001t0001g0036a0001c0001t0001g0037others(204): Show | 212 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(209): Show |
intron_variant | MODIFIER | c.321-4250A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17516904 | ||||||
| chr17:17516920
|
G | A | 1 | a0001c0001t0001g0120 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.321-4266C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17516920 | ||||||
| chr17:17516975
|
T | C | 6 | a0001c0001t0001g0154a0001c0001t0001g0340a0005c0006t0001g0009others(3): Show | 6 | HG02486.hp2 HG02559.hp1 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.321-4321A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17516975 | ||||||
| chr17:17517155
|
C | T | 1 | a0001c0001t0001g0120 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.321-4501G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17517155 | ||||||
| chr17:17517479
|
C | T | 69 | a0002c0002t0001g0117a0002c0002t0001g0124a0002c0002t0001g0125others(66): Show | 74 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(71): Show |
intron_variant | MODIFIER | c.320+4801G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17517479 | ||||||
| chr17:17517608
|
C | A | 4 | a0001c0001t0001g0091a0001c0001t0001g0092a0001c0001t0001g0165others(1): Show | 4 | HG01884.hp1 HG03041.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.320+4672G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17517608 | ||||||
| chr17:17517873
|
G | C | 143 | a0001c0001t0001g0036a0001c0001t0001g0041a0001c0001t0001g0047others(140): Show | 148 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(145): Show |
intron_variant | MODIFIER | c.320+4407C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17517873 | ||||||
| chr17:17518137
|
G | A | 21 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0074others(18): Show | 21 | HG01884.hp1 HG02258.hp2 HG02451.hp2 others(18): Show |
intron_variant | MODIFIER | c.320+4143C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17518137 | ||||||
| chr17:17518164
|
C | T | 5 | a0003c0003t0001g0139a0003c0003t0001g0192a0003c0003t0001g0193others(2): Show | 5 | HG01070.hp2 HG02055.hp2 HG03453.hp1 others(2): Show |
intron_variant | MODIFIER | c.320+4116G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17518164 | ||||||
| chr17:17518258
|
G | A | 341 | a0001c0001t0001g0014a0001c0001t0001g0016a0001c0001t0001g0019others(338): Show | 347 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(344): Show |
intron_variant | MODIFIER | c.320+4022C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17518258 | ||||||
| chr17:17518282
|
C | T | 1 | a0001c0001t0001g0112 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.320+3998G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17518282 | ||||||
| chr17:17518484
|
C | T | 13 | a0001c0001t0001g0157a0001c0001t0001g0171a0001c0001t0001g0198others(10): Show | 13 | HG01433.hp1 HG01884.hp2 HG01891.hp2 others(10): Show |
intron_variant | MODIFIER | c.320+3796G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17518484 | ||||||
| chr17:17518661
|
C | T | 3 | a0003c0003t0001g0192a0003c0003t0001g0193a0003c0003t0001g0205 | 3 | HG02055.hp2 HG03516.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.320+3619G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17518661 | ||||||
| chr17:17518729
|
T | C | 1 | a0002c0002t0001g0138 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.320+3551A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17518729 | ||||||
| chr17:17518768
|
C | T | 1 | a0001c0001t0001g0072 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.320+3512G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17518768 | ||||||
| chr17:17518817
|
G | A | 1 | a0002c0002t0001g0138 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.320+3463C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17518817 | ||||||
| chr17:17519039
|
A | G | 3 | a0001c0001t0001g0072a0002c0002t0001g0129a0002c0002t0001g0132 | 3 | HG00741.hp2 HG02451.hp2 HG02647.hp2 |
intron_variant | MODIFIER | c.320+3241T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17519039 | ||||||
| chr17:17519040
|
C | T | 85 | a0001c0001t0001g0091a0001c0001t0001g0092a0001c0001t0001g0141others(82): Show | 90 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(87): Show |
intron_variant | MODIFIER | c.320+3240G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17519040 | ||||||
| chr17:17519082
|
T | G | 50 | a0001c0001t0001g0024a0001c0001t0001g0069a0001c0001t0001g0072others(47): Show | 50 | HG00544.hp2 HG01891.hp1 HG01978.hp1 others(47): Show |
intron_variant | MODIFIER | c.320+3198A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17519082 | ||||||
| chr17:17519106
|
C | T | 2 | a0002c0002t0001g0279a0002c0012t0001g0292 | 2 | HG02074.hp2 NA18986.hp2 |
intron_variant | MODIFIER | c.320+3174G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17519106 | ||||||
| chr17:17519183
|
C | A | 2 | a0002c0002t0001g0130a0002c0002t0001g0133 | 2 | HG01256.hp2 HG01258.hp2 |
intron_variant | MODIFIER | c.320+3097G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17519183 | ||||||
| chr17:17519184
|
G | A | 12 | a0001c0001t0001g0047a0001c0001t0001g0102a0001c0001t0001g0120others(9): Show | 12 | HG02055.hp1 HG03017.hp2 HG03516.hp2 others(9): Show |
intron_variant | MODIFIER | c.320+3096C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17519184 | ||||||
| chr17:17519252
|
G | T | 1 | a0002c0002t0001g0221 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.320+3028C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17519252 | ||||||
| chr17:17519253
|
G | C | 1 | a0002c0002t0001g0219 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.320+3027C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17519253 | ||||||
| chr17:17519294
|
A | G | 61 | a0001c0001t0001g0024a0001c0001t0001g0069a0001c0001t0001g0072others(58): Show | 61 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(58): Show |
intron_variant | MODIFIER | c.320+2986T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17519294 | ||||||
| chr17:17519395
|
G | A | 1 | a0002c0002t0001g0221 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.320+2885C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17519395 | ||||||
| chr17:17519454
|
T | G | 165 | a0001c0001t0001g0024a0001c0001t0001g0036a0001c0001t0001g0037others(162): Show | 170 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(167): Show |
intron_variant | MODIFIER | c.320+2826A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17519454 | ||||||
| chr17:17519550
|
G | C | 1 | a0001c0001t0001g0103 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.320+2730C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17519550 | ||||||
| chr17:17519604
|
C | A | 4 | a0001c0001t0001g0091a0001c0001t0001g0092a0001c0001t0001g0165others(1): Show | 4 | HG01884.hp1 HG01884.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.320+2676G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17519604 | ||||||
| chr17:17519673
|
G | T | 3 | a0001c0001t0001g0091a0001c0001t0001g0092a0001c0001t0001g0165 | 3 | HG01884.hp1 HG03098.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.320+2607C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17519673 | ||||||
| chr17:17519831
|
C | T | 3 | a0001c0001t0001g0091a0001c0001t0001g0092a0001c0001t0001g0165 | 3 | HG01884.hp1 HG03098.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.320+2449G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17519831 | ||||||
| chr17:17519969
|
T | G | 31 | a0001c0001t0001g0024a0001c0001t0001g0069a0001c0001t0001g0151others(28): Show | 31 | HG00438.hp2 HG00544.hp2 HG01978.hp1 others(28): Show |
intron_variant | MODIFIER | c.320+2311A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17519969 | ||||||
| chr17:17520342
|
G | A | 1 | a0001c0001t0001g0092 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.320+1938C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17520342 | ||||||
| chr17:17520359
|
T | C | 1 | a0001c0001t0001g0069 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.320+1921A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17520359 | ||||||
| chr17:17520382
|
T | A | 2 | a0003c0003t0001g0038a0003c0003t0001g0065 | 2 | HG00280.hp2 HG01255.hp1 |
intron_variant | MODIFIER | c.320+1898A>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17520382 | ||||||
| chr17:17520566
|
C | A | 6 | a0001c0001t0001g0107a0001c0001t0001g0111a0001c0001t0001g0113others(3): Show | 6 | HG00673.hp2 HG02071.hp1 HG02080.hp1 others(3): Show |
intron_variant | MODIFIER | c.320+1714G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17520566 | ||||||
| chr17:17520583
|
T | A | 8 | a0001c0001t0001g0047a0001c0001t0001g0102a0001c0001t0001g0120others(5): Show | 8 | HG03017.hp2 HG03669.hp1 HG03834.hp2 others(5): Show |
intron_variant | MODIFIER | c.320+1697A>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17520583 | ||||||
| chr17:17520594
|
C | A | 2 | a0001c0001t0001g0082a0001c0001t0001g0088 | 2 | HG03139.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.320+1686G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17520594 | ||||||
| chr17:17520676
|
T | A | 1 | a0001c0001t0001g0300 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.320+1604A>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17520676 | ||||||
| chr17:17520733
|
C | T | 8 | a0001c0001t0001g0047a0001c0001t0001g0102a0001c0001t0001g0120others(5): Show | 8 | HG03017.hp2 HG03669.hp1 HG03834.hp2 others(5): Show |
intron_variant | MODIFIER | c.320+1547G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17520733 | ||||||
| chr17:17520989
|
C | T | 20 | a0001c0001t0001g0118a0001c0001t0001g0119a0001c0001t0001g0123others(17): Show | 20 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(17): Show |
intron_variant | MODIFIER | c.320+1291G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17520989 | ||||||
| chr17:17521019
|
G | A | 257 | a0001c0001t0001g0024a0001c0001t0001g0036a0001c0001t0001g0037others(254): Show | 263 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(260): Show |
intron_variant | MODIFIER | c.320+1261C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17521019 | ||||||
| chr17:17521185
|
G | C | 88 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(85): Show | 93 | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(90): Show |
intron_variant | MODIFIER | c.320+1095C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17521185 | ||||||
| chr17:17521246
|
T | C | 5 | a0001c0001t0001g0073a0001c0001t0001g0091a0001c0001t0001g0152others(2): Show | 5 | HG02559.hp1 HG02615.hp1 HG02965.hp2 others(2): Show |
intron_variant | MODIFIER | c.320+1034A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17521246 | ||||||
| chr17:17521261
|
C | T | 1 | a0001c0001t0001g0026 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.320+1019G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17521261 | ||||||
| chr17:17521290
|
G | A | 2 | a0001c0001t0001g0152a0002c0002t0001g0138 | 2 | HG02965.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.320+990C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17521290 | ||||||
| chr17:17521427
|
C | A | 1 | a0001c0001t0001g0072 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.320+853G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17521427 | ||||||
| chr17:17521560
|
C | CT | 6 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0091others(3): Show | 6 | HG02451.hp2 HG02559.hp1 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.320+719dupA | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17521560 | ||||||
| chr17:17521564
|
TA | T | 6 | a0001c0001t0001g0115a0001c0001t0001g0218a0001c0001t0001g0298others(3): Show | 6 | HG01070.hp2 HG01168.hp2 HG02523.hp2 others(3): Show |
intron_variant | MODIFIER | c.320+715delT | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17521564 | ||||||
| chr17:17521565
|
A | T | 331 | a0001c0001t0001g0014a0001c0001t0001g0016a0001c0001t0001g0019others(328): Show | 337 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(334): Show |
intron_variant | MODIFIER | c.320+715T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17521565 | ||||||
| chr17:17521566
|
A | T | 22 | a0001c0001t0001g0047a0001c0001t0001g0102a0001c0001t0001g0115others(19): Show | 22 | HG01070.hp2 HG01168.hp2 HG01433.hp1 others(19): Show |
intron_variant | MODIFIER | c.320+714T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17521566 | ||||||
| chr17:17521620
|
A | G | 1 | a0001c0001t0001g0112 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.320+660T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17521620 | ||||||
| chr17:17521688
|
T | C | 204 | a0001c0001t0001g0024a0001c0001t0001g0036a0001c0001t0001g0037others(201): Show | 209 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(206): Show |
intron_variant | MODIFIER | c.320+592A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17521688 | ||||||
| chr17:17521755
|
C | T | 25 | a0001c0001t0001g0092a0001c0001t0001g0118a0001c0001t0001g0119others(22): Show | 25 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(22): Show |
intron_variant | MODIFIER | c.320+525G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17521755 | ||||||
| chr17:17521804
|
T | C | 1 | a0002c0002t0001g0329 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.320+476A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17521804 | ||||||
| chr17:17521953
|
C | T | 1 | a0001c0001t0001g0198 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.320+327G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17521953 | ||||||
| chr17:17521965
|
C | T | 26 | a0001c0001t0001g0092a0001c0001t0001g0118a0001c0001t0001g0119others(23): Show | 26 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(23): Show |
intron_variant | MODIFIER | c.320+315G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17521965 | ||||||
| chr17:17522116
|
C | T | 3 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0091 | 3 | HG02451.hp2 HG02615.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.320+164G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17522116 | ||||||
| chr17:17522203
|
A | G | 34 | a0001c0001t0001g0024a0001c0001t0001g0069a0001c0001t0001g0121others(31): Show | 34 | HG00438.hp2 HG00544.hp2 HG01884.hp1 others(31): Show |
intron_variant | MODIFIER | c.320+77T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17522203 | ||||||
| chr17:17522226
|
G | A | 2 | a0001c0001t0001g0186a0005c0006t0001g0011 | 2 | HG03471.hp2 NA19079.hp1 |
intron_variant | MODIFIER | c.320+54C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 3/6 | chr17 | 17522226 | ||||||
| chr17:17522544
|
C | T | 59 | a0001c0001t0001g0036a0001c0001t0001g0037a0001c0001t0001g0041others(56): Show | 59 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(56): Show |
intron_variant | MODIFIER | c.205-149G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17522544 | ||||||
| chr17:17522695
|
T | C | 203 | a0001c0001t0001g0024a0001c0001t0001g0036a0001c0001t0001g0037others(200): Show | 208 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(205): Show |
intron_variant | MODIFIER | c.205-300A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17522695 | ||||||
| chr17:17522813
|
T | A | 124 | a0001c0001t0001g0036a0001c0001t0001g0037a0001c0001t0001g0041others(121): Show | 129 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(126): Show |
intron_variant | MODIFIER | c.205-418A>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17522813 | ||||||
| chr17:17522889
|
C | CT | 59 | a0001c0001t0001g0036a0001c0001t0001g0037a0001c0001t0001g0041others(56): Show | 59 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(56): Show |
intron_variant | MODIFIER | c.205-495_205-494ins others(1): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17522889 | ||||||
| chr17:17522916
|
A | G | 2 | a0002c0002t0001g0229a0002c0002t0001g0315 | 2 | NA18979.hp1 NA19091.hp2 |
intron_variant | MODIFIER | c.205-521T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17522916 | ||||||
| chr17:17523048
|
G | A | 1 | a0001c0001t0001g0081 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.205-653C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17523048 | ||||||
| chr17:17523219
|
T | C | 1 | a0001c0001t0001g0295 | 1 | NA18941.hp1 | intron_variant | MODIFIER | c.205-824A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17523219 | ||||||
| chr17:17523331
|
C | T | 7 | a0001c0001t0001g0047a0001c0001t0001g0102a0001c0001t0001g0120others(4): Show | 7 | HG03017.hp2 HG03669.hp1 HG03834.hp2 others(4): Show |
intron_variant | MODIFIER | c.205-936G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17523331 | ||||||
| chr17:17523343
|
C | G | 1 | a0001c0001t0001g0037 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.205-948G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17523343 | ||||||
| chr17:17523508
|
A | C | 1 | a0001c0001t0001g0290 | 1 | NA19075.hp2 | intron_variant | MODIFIER | c.205-1113T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17523508 | ||||||
| chr17:17523509
|
G | A | 1 | a0001c0001t0001g0290 | 1 | NA19075.hp2 | intron_variant | MODIFIER | c.205-1114C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17523509 | ||||||
| chr17:17523568
|
C | T | 16 | a0001c0001t0001g0074a0001c0001t0001g0077a0001c0001t0001g0079others(13): Show | 16 | HG02257.hp2 HG02451.hp1 HG02559.hp2 others(13): Show |
intron_variant | MODIFIER | c.205-1173G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17523568 | ||||||
| chr17:17523690
|
A | T | 62 | a0001c0001t0001g0036a0001c0001t0001g0037a0001c0001t0001g0041others(59): Show | 62 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(59): Show |
intron_variant | MODIFIER | c.205-1295T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17523690 | ||||||
| chr17:17523777
|
C | T | 2 | a0001c0001t0001g0016a0001c0001t0001g0189 | 2 | NA18946.hp2 NA18970.hp1 |
intron_variant | MODIFIER | c.205-1382G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17523777 | ||||||
| chr17:17523837
|
A | C | 1 | a0001c0001t0001g0089 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.205-1442T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17523837 | ||||||
| chr17:17523864
|
A | G | 1 | a0001c0001t0001g0152 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.205-1469T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17523864 | ||||||
| chr17:17523910
|
C | T | 1 | a0001c0001t0001g0296 | 1 | NA18968.hp1 | intron_variant | MODIFIER | c.205-1515G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17523910 | ||||||
| chr17:17523955
|
G | A | 21 | a0001c0001t0001g0074a0001c0001t0001g0077a0001c0001t0001g0079others(18): Show | 21 | HG02257.hp2 HG02258.hp1 HG02451.hp1 others(18): Show |
intron_variant | MODIFIER | c.205-1560C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17523955 | ||||||
| chr17:17523961
|
C | T | 1 | a0002c0002t0001g0018 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.205-1566G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17523961 | ||||||
| chr17:17523988
|
C | T | 1 | a0001c0001t0001g0302 | 1 | NA18973.hp1 | intron_variant | MODIFIER | c.205-1593G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17523988 | ||||||
| chr17:17524178
|
G | A | 57 | a0001c0001t0001g0036a0001c0001t0001g0037a0001c0001t0001g0041others(54): Show | 57 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(54): Show |
intron_variant | MODIFIER | c.205-1783C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17524178 | ||||||
| chr17:17524226
|
G | A | 1 | a0001c0001t0001g0147 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.205-1831C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17524226 | ||||||
| chr17:17524246
|
C | T | 1 | a0002c0002t0001g0224 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.205-1851G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17524246 | ||||||
| chr17:17524284
|
C | T | 1 | a0002c0002t0001g0018 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.205-1889G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17524284 | ||||||
| chr17:17524522
|
G | A | 11 | a0001c0001t0001g0102a0001c0001t0001g0120a0001c0001t0001g0157others(8): Show | 11 | HG01433.hp1 HG01891.hp2 HG02145.hp1 others(8): Show |
intron_variant | MODIFIER | c.205-2127C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17524522 | ||||||
| chr17:17524600
|
CA | C | 192 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(189): Show | 197 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(194): Show |
intron_variant | MODIFIER | c.205-2206delT | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17524600 | ||||||
| chr17:17524612
|
A | T | 16 | a0001c0001t0001g0222a0001c0001t0001g0225a0001c0001t0001g0250others(13): Show | 16 | HG01256.hp2 HG01258.hp2 HG01952.hp1 others(13): Show |
intron_variant | MODIFIER | c.205-2217T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17524612 | ||||||
| chr17:17524613
|
A | T | 16 | a0001c0001t0001g0102a0001c0001t0001g0120a0001c0001t0001g0121others(13): Show | 16 | HG02074.hp2 HG02135.hp2 HG02572.hp2 others(13): Show |
intron_variant | MODIFIER | c.205-2218T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17524613 | ||||||
| chr17:17524672
|
C | T | 5 | a0001c0001t0001g0157a0001c0001t0001g0171a0001c0001t0001g0198others(2): Show | 5 | HG01433.hp1 HG01891.hp2 HG02145.hp1 others(2): Show |
intron_variant | MODIFIER | c.205-2277G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17524672 | ||||||
| chr17:17524894
|
G | C | 57 | a0001c0001t0001g0036a0001c0001t0001g0037a0001c0001t0001g0041others(54): Show | 57 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(54): Show |
intron_variant | MODIFIER | c.205-2499C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17524894 | ||||||
| chr17:17524911
|
C | A | 1 | a0001c0001t0001g0141 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.205-2516G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17524911 | ||||||
| chr17:17524912
|
A | G | 12 | a0001c0001t0001g0102a0001c0001t0001g0120a0001c0001t0001g0121others(9): Show | 12 | HG01433.hp1 HG01891.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.205-2517T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17524912 | ||||||
| chr17:17524964
|
C | T | 67 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(64): Show | 72 | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(69): Show |
intron_variant | MODIFIER | c.205-2569G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17524964 | ||||||
| chr17:17524999
|
C | T | 4 | a0001c0001t0001g0074a0001c0001t0001g0079a0001c0001t0001g0089others(1): Show | 4 | HG02559.hp2 HG03471.hp1 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.205-2604G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17524999 | ||||||
| chr17:17525184
|
C | G | 1 | a0001c0001t0001g0155 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.205-2789G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17525184 | ||||||
| chr17:17525316
|
G | A | 1 | a0002c0002t0001g0018 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.205-2921C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17525316 | ||||||
| chr17:17525351
|
G | A | 14 | a0001c0001t0001g0014a0001c0001t0001g0070a0001c0001t0001g0183others(11): Show | 14 | HG00423.hp1 HG01496.hp1 HG02071.hp2 others(11): Show |
intron_variant | MODIFIER | c.205-2956C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17525351 | ||||||
| chr17:17525411
|
C | A | 1 | a0003c0004t0001g0108 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.205-3016G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17525411 | ||||||
| chr17:17525537
|
G | A | 26 | a0001c0001t0001g0092a0001c0001t0001g0118a0001c0001t0001g0119others(23): Show | 26 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(23): Show |
intron_variant | MODIFIER | c.205-3142C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17525537 | ||||||
| chr17:17525660
|
C | T | 1 | a0002c0009t0001g0308 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.205-3265G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17525660 | ||||||
| chr17:17525949
|
G | A | 2 | a0002c0002t0001g0238a0002c0002t0001g0301 | 2 | HG01952.hp1 HG02004.hp2 |
intron_variant | MODIFIER | c.205-3554C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17525949 | ||||||
| chr17:17525980
|
C | G | 2 | a0001c0001t0001g0082a0001c0001t0001g0088 | 2 | HG03139.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.205-3585G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17525980 | ||||||
| chr17:17525997
|
CAACA | C | 201 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(198): Show | 206 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(203): Show |
intron_variant | MODIFIER | c.205-3606_205-3603d others(6): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17525997 | ||||||
| chr17:17526157
|
A | G | 57 | a0001c0001t0001g0036a0001c0001t0001g0037a0001c0001t0001g0041others(54): Show | 57 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(54): Show |
intron_variant | MODIFIER | c.205-3762T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17526157 | ||||||
| chr17:17526285
|
T | C | 1 | a0001c0001t0001g0114 | 1 | NA18984.hp2 | intron_variant | MODIFIER | c.205-3890A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17526285 | ||||||
| chr17:17526386
|
C | T | 1 | a0002c0002t0001g0328 | 1 | NA18959.hp2 | intron_variant | MODIFIER | c.205-3991G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17526386 | ||||||
| chr17:17526406
|
C | A | 1 | a0001c0001t0001g0262 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.205-4011G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17526406 | ||||||
| chr17:17526442
|
C | G | 4 | a0001c0001t0001g0141a0002c0002t0001g0076a0002c0002t0001g0137others(1): Show | 4 | HG02258.hp2 HG02572.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.205-4047G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17526442 | ||||||
| chr17:17526454
|
C | T | 1 | a0001c0001t0001g0309 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.205-4059G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17526454 | ||||||
| chr17:17526461
|
C | T | 5 | a0002c0002t0001g0226a0002c0002t0001g0231a0002c0002t0001g0232others(2): Show | 5 | HG01081.hp2 HG01123.hp2 HG01168.hp2 others(2): Show |
intron_variant | MODIFIER | c.205-4066G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17526461 | ||||||
| chr17:17526613
|
G | A | 201 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(198): Show | 206 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(203): Show |
intron_variant | MODIFIER | c.205-4218C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17526613 | ||||||
| chr17:17526771
|
T | A | 24 | a0001c0001t0001g0118a0001c0001t0001g0119a0001c0001t0001g0123others(21): Show | 24 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(21): Show |
intron_variant | MODIFIER | c.205-4376A>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17526771 | ||||||
| chr17:17526958
|
C | G | 1 | a0002c0002t0001g0167 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.205-4563G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17526958 | ||||||
| chr17:17527059
|
C | T | 24 | a0001c0001t0001g0118a0001c0001t0001g0119a0001c0001t0001g0123others(21): Show | 24 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(21): Show |
intron_variant | MODIFIER | c.205-4664G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17527059 | ||||||
| chr17:17527098
|
C | T | 6 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0091others(3): Show | 6 | HG02451.hp2 HG02559.hp1 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.205-4703G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17527098 | ||||||
| chr17:17527162
|
C | T | 1 | a0005c0006t0002g0006 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.205-4767G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17527162 | ||||||
| chr17:17527199
|
G | A | 21 | a0001c0001t0001g0074a0001c0001t0001g0077a0001c0001t0001g0079others(18): Show | 21 | HG02257.hp2 HG02258.hp1 HG02451.hp1 others(18): Show |
intron_variant | MODIFIER | c.205-4804C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17527199 | ||||||
| chr17:17527279
|
C | T | 1 | a0002c0002t0001g0018 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.205-4884G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17527279 | ||||||
| chr17:17527280
|
G | A | 11 | a0001c0001t0001g0078a0001c0001t0001g0122a0001c0001t0001g0208others(8): Show | 11 | HG00741.hp2 HG01109.hp1 HG02486.hp1 others(8): Show |
intron_variant | MODIFIER | c.205-4885C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17527280 | ||||||
| chr17:17527300
|
G | C | 57 | a0001c0001t0001g0036a0001c0001t0001g0037a0001c0001t0001g0041others(54): Show | 57 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(54): Show |
intron_variant | MODIFIER | c.205-4905C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17527300 | ||||||
| chr17:17527335
|
T | C | 219 | a0001c0001t0001g0016a0001c0001t0001g0019a0001c0001t0001g0020others(216): Show | 225 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(222): Show |
intron_variant | MODIFIER | c.205-4940A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17527335 | ||||||
| chr17:17527346
|
T | A | 1 | a0001c0001t0001g0177 | 1 | NA19009.hp2 | intron_variant | MODIFIER | c.205-4951A>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17527346 | ||||||
| chr17:17527441
|
G | A | 2 | a0001c0001t0001g0152a0002c0002t0001g0138 | 2 | HG02965.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.205-5046C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17527441 | ||||||
| chr17:17527453
|
G | A | 54 | a0001c0001t0001g0036a0001c0001t0001g0037a0001c0001t0001g0041others(51): Show | 54 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(51): Show |
intron_variant | MODIFIER | c.205-5058C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17527453 | ||||||
| chr17:17527494
|
T | C | 1 | a0002c0002t0001g0076 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.205-5099A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17527494 | ||||||
| chr17:17527577
|
A | AC | 91 | a0001c0001t0001g0024a0001c0001t0001g0069a0001c0001t0001g0072others(88): Show | 91 | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(88): Show |
intron_variant | MODIFIER | c.205-5183dupG | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17527577 | ||||||
| chr17:17527742
|
C | T | 29 | a0001c0001t0001g0069a0001c0001t0001g0151a0001c0001t0001g0156others(26): Show | 29 | HG00408.hp2 HG00544.hp2 HG01978.hp1 others(26): Show |
intron_variant | MODIFIER | c.205-5347G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17527742 | ||||||
| chr17:17527782
|
C | T | 1 | a0001c0001t0001g0330 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.205-5387G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17527782 | ||||||
| chr17:17527786
|
G | A | 2 | a0001c0001t0001g0028a0001c0001t0001g0334 | 2 | NA19064.hp2 NA19090.hp2 |
intron_variant | MODIFIER | c.205-5391C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17527786 | ||||||
| chr17:17527787
|
G | A | 2 | a0001c0001t0001g0028a0001c0001t0001g0334 | 2 | NA19064.hp2 NA19090.hp2 |
intron_variant | MODIFIER | c.205-5392C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17527787 | ||||||
| chr17:17527817
|
A | G | 3 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0091 | 3 | HG02451.hp2 HG02615.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.205-5422T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17527817 | ||||||
| chr17:17527818
|
C | A | 5 | a0001c0001t0001g0157a0001c0001t0001g0171a0001c0001t0001g0198others(2): Show | 5 | HG01433.hp1 HG01891.hp2 HG02145.hp1 others(2): Show |
intron_variant | MODIFIER | c.205-5423G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17527818 | ||||||
| chr17:17527894
|
C | A | 23 | a0001c0001t0001g0092a0001c0001t0001g0118a0001c0001t0001g0119others(20): Show | 23 | HG00099.hp2 HG00639.hp1 HG01069.hp2 others(20): Show |
intron_variant | MODIFIER | c.205-5499G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17527894 | ||||||
| chr17:17527912
|
A | C | 5 | a0001c0001t0001g0276a0001c0001t0001g0280a0001c0001t0001g0297others(2): Show | 5 | NA18949.hp1 NA18961.hp2 NA18984.hp1 others(2): Show |
intron_variant | MODIFIER | c.205-5517T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17527912 | ||||||
| chr17:17527978
|
C | T | 1 | a0001c0001t0001g0235 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.205-5583G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17527978 | ||||||
| chr17:17527987
|
C | G | 2 | a0009c0013t0001g0055a0010c0014t0001g0048 | 2 | HG01358.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.205-5592G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17527987 | ||||||
| chr17:17528006
|
A | G | 5 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0091others(2): Show | 5 | HG02451.hp2 HG02559.hp1 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.205-5611T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17528006 | ||||||
| chr17:17528213
|
C | T | 16 | a0001c0001t0001g0016a0001c0001t0001g0105a0001c0001t0001g0172others(13): Show | 16 | HG00438.hp2 HG00741.hp1 HG02083.hp2 others(13): Show |
intron_variant | MODIFIER | c.205-5818G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17528213 | ||||||
| chr17:17528218
|
G | A | 1 | a0001c0001t0001g0068 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.205-5823C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17528218 | ||||||
| chr17:17528273
|
G | T | 5 | a0001c0001t0001g0151a0002c0002t0001g0201a0002c0002t0001g0203others(2): Show | 5 | HG02572.hp2 HG02818.hp1 HG02970.hp1 others(2): Show |
intron_variant | MODIFIER | c.205-5878C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17528273 | ||||||
| chr17:17528357
|
G | C | 55 | a0001c0001t0001g0028a0001c0001t0001g0036a0001c0001t0001g0037others(52): Show | 55 | HG00099.hp1 HG00423.hp2 HG00544.hp2 others(52): Show |
intron_variant | MODIFIER | c.205-5962C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17528357 | ||||||
| chr17:17528412
|
G | A | 1 | a0001c0001t0001g0278 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.205-6017C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17528412 | ||||||
| chr17:17528541
|
A | G | 2 | a0002c0002t0001g0129a0002c0002t0001g0132 | 2 | HG00741.hp2 HG02647.hp2 |
intron_variant | MODIFIER | c.205-6146T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17528541 | ||||||
| chr17:17528622
|
C | T | 1 | a0001c0001t0001g0250 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.205-6227G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17528622 | ||||||
| chr17:17528671
|
T | A | 1 | a0001c0001t0001g0312 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.205-6276A>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17528671 | ||||||
| chr17:17528784
|
T | C | 216 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(213): Show | 221 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(218): Show |
intron_variant | MODIFIER | c.205-6389A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17528784 | ||||||
| chr17:17528785
|
G | A | 1 | a0002c0002t0001g0228 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.205-6390C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17528785 | ||||||
| chr17:17528906
|
G | A | 26 | a0001c0001t0001g0041a0001c0001t0001g0061a0001c0001t0001g0093others(23): Show | 26 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(23): Show |
intron_variant | MODIFIER | c.205-6511C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17528906 | ||||||
| chr17:17528961
|
T | C | 22 | a0001c0001t0001g0024a0001c0001t0001g0069a0001c0001t0001g0151others(19): Show | 22 | HG00544.hp2 HG01884.hp1 HG02040.hp1 others(19): Show |
intron_variant | MODIFIER | c.205-6566A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17528961 | ||||||
| chr17:17529021
|
C | T | 1 | a0001c0001t0001g0152 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.205-6626G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17529021 | ||||||
| chr17:17529142
|
C | T | 55 | a0001c0001t0001g0102a0001c0001t0001g0118a0001c0001t0001g0119others(52): Show | 55 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(52): Show |
intron_variant | MODIFIER | c.205-6747G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17529142 | ||||||
| chr17:17529230
|
C | T | 1 | a0004c0005t0001g0046 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.205-6835G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17529230 | ||||||
| chr17:17529277
|
C | T | 3 | a0002c0002t0001g0076a0002c0002t0001g0137a0002c0002t0001g0148 | 3 | HG02258.hp2 HG02572.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.205-6882G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17529277 | ||||||
| chr17:17529429
|
C | T | 9 | a0001c0001t0001g0102a0001c0001t0001g0175a0001c0001t0001g0176others(6): Show | 9 | HG02055.hp2 HG02886.hp1 HG03017.hp2 others(6): Show |
intron_variant | MODIFIER | c.205-7034G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17529429 | ||||||
| chr17:17529430
|
G | A | 122 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(119): Show | 127 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(124): Show |
intron_variant | MODIFIER | c.205-7035C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17529430 | ||||||
| chr17:17529460
|
A | T | 1 | a0001c0001t0001g0168 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.205-7065T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17529460 | ||||||
| chr17:17529605
|
G | A | 55 | a0001c0001t0001g0102a0001c0001t0001g0118a0001c0001t0001g0119others(52): Show | 55 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(52): Show |
intron_variant | MODIFIER | c.205-7210C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17529605 | ||||||
| chr17:17529648
|
G | T | 2 | a0001c0001t0001g0016a0001c0001t0001g0189 | 2 | NA18946.hp2 NA18970.hp1 |
intron_variant | MODIFIER | c.205-7253C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17529648 | ||||||
| chr17:17529901
|
A | T | 22 | a0001c0001t0001g0024a0001c0001t0001g0069a0001c0001t0001g0151others(19): Show | 22 | HG00544.hp2 HG01884.hp1 HG02040.hp1 others(19): Show |
intron_variant | MODIFIER | c.205-7506T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17529901 | ||||||
| chr17:17530188
|
G | A | 1 | a0001c0001t0001g0154 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.205-7793C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17530188 | ||||||
| chr17:17530277
|
C | G | 55 | a0001c0001t0001g0102a0001c0001t0001g0118a0001c0001t0001g0119others(52): Show | 55 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(52): Show |
intron_variant | MODIFIER | c.205-7882G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17530277 | ||||||
| chr17:17530332
|
C | T | 1 | a0002c0002t0001g0153 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.205-7937G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17530332 | ||||||
| chr17:17530427
|
G | A | 2 | a0009c0013t0001g0055a0010c0014t0001g0048 | 2 | HG01358.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.205-8032C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17530427 | ||||||
| chr17:17530462
|
T | C | 1 | a0001c0001t0001g0296 | 1 | NA18968.hp1 | intron_variant | MODIFIER | c.205-8067A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17530462 | ||||||
| chr17:17530463
|
C | T | 122 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(119): Show | 127 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(124): Show |
intron_variant | MODIFIER | c.205-8068G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17530463 | ||||||
| chr17:17530568
|
T | A | 2 | a0005c0006t0001g0007a0005c0006t0001g0008 | 2 | HG02572.hp2 HG02818.hp1 |
intron_variant | MODIFIER | c.205-8173A>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17530568 | ||||||
| chr17:17530623
|
C | T | 9 | a0001c0001t0001g0102a0001c0001t0001g0175a0001c0001t0001g0176others(6): Show | 9 | HG02055.hp2 HG02886.hp1 HG03017.hp2 others(6): Show |
intron_variant | MODIFIER | c.205-8228G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17530623 | ||||||
| chr17:17530645
|
A | C | 55 | a0001c0001t0001g0102a0001c0001t0001g0118a0001c0001t0001g0119others(52): Show | 55 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(52): Show |
intron_variant | MODIFIER | c.205-8250T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17530645 | ||||||
| chr17:17530775
|
A | G | 2 | a0001c0001t0001g0319a0001c0001t0001g0323 | 2 | HG03490.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.205-8380T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17530775 | ||||||
| chr17:17530787
|
C | T | 1 | a0001c0001t0001g0318 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.205-8392G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17530787 | ||||||
| chr17:17530827
|
G | A | 55 | a0001c0001t0001g0102a0001c0001t0001g0118a0001c0001t0001g0119others(52): Show | 55 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(52): Show |
intron_variant | MODIFIER | c.205-8432C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17530827 | ||||||
| chr17:17530900
|
G | T | 55 | a0001c0001t0001g0102a0001c0001t0001g0118a0001c0001t0001g0119others(52): Show | 55 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(52): Show |
intron_variant | MODIFIER | c.205-8505C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17530900 | ||||||
| chr17:17530904
|
G | A | 86 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(83): Show | 91 | HG00280.hp2 HG00323.hp2 HG00408.hp2 others(88): Show |
intron_variant | MODIFIER | c.205-8509C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17530904 | ||||||
| chr17:17531038
|
G | A | 55 | a0001c0001t0001g0102a0001c0001t0001g0118a0001c0001t0001g0119others(52): Show | 55 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(52): Show |
intron_variant | MODIFIER | c.205-8643C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17531038 | ||||||
| chr17:17531042
|
C | CA | 21 | a0001c0001t0001g0028a0001c0001t0001g0047a0001c0001t0001g0081others(18): Show | 21 | HG01109.hp2 HG01175.hp1 HG01433.hp2 others(18): Show |
intron_variant | MODIFIER | c.205-8648dupT | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17531042 | ||||||
| chr17:17531042
|
CA | C | 38 | a0001c0001t0001g0024a0001c0001t0001g0069a0001c0001t0001g0103others(35): Show | 39 | HG01069.hp1 HG01071.hp1 HG01099.hp2 others(36): Show |
intron_variant | MODIFIER | c.205-8648delT | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17531042 | ||||||
| chr17:17531229
|
C | T | 1 | a0001c0001t0001g0338 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.205-8834G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17531229 | ||||||
| chr17:17531336
|
GT | G | 55 | a0001c0001t0001g0102a0001c0001t0001g0118a0001c0001t0001g0119others(52): Show | 55 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(52): Show |
intron_variant | MODIFIER | c.205-8942delA | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17531336 | ||||||
| chr17:17531566
|
G | A | 2 | a0001c0001t0001g0091a0001c0001t0001g0174 | 2 | HG02818.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.205-9171C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17531566 | ||||||
| chr17:17531621
|
C | CA | 13 | a0001c0001t0001g0168a0001c0001t0001g0188a0001c0001t0001g0215others(10): Show | 13 | HG00280.hp1 HG01175.hp2 HG01192.hp1 others(10): Show |
intron_variant | MODIFIER | c.205-9227dupT | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17531621 | ||||||
| chr17:17531621
|
CA | C | 13 | a0001c0001t0001g0028a0001c0001t0001g0078a0001c0001t0001g0090others(10): Show | 13 | HG01109.hp1 HG01358.hp1 HG01517.hp2 others(10): Show |
intron_variant | MODIFIER | c.205-9227delT | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17531621 | ||||||
| chr17:17531621
|
CAA | C | 98 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(95): Show | 103 | HG00280.hp2 HG00323.hp2 HG00408.hp2 others(100): Show |
intron_variant | MODIFIER | c.205-9228_205-9227d others(4): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17531621 | ||||||
| chr17:17531621
|
CAAA | C | 40 | a0001c0001t0001g0024a0001c0001t0001g0069a0001c0001t0001g0086others(37): Show | 40 | HG00544.hp2 HG00673.hp2 HG01099.hp1 others(37): Show |
intron_variant | MODIFIER | c.205-9229_205-9227d others(5): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17531621 | ||||||
| chr17:17531621
|
CAAAAA | C | 50 | a0001c0001t0001g0102a0001c0001t0001g0118a0001c0001t0001g0120others(47): Show | 50 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(47): Show |
intron_variant | MODIFIER | c.205-9231_205-9227d others(7): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17531621 | ||||||
| chr17:17531696
|
A | T | 22 | a0001c0001t0001g0024a0001c0001t0001g0069a0001c0001t0001g0151others(19): Show | 22 | HG00544.hp2 HG01884.hp1 HG02040.hp1 others(19): Show |
intron_variant | MODIFIER | c.205-9301T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17531696 | ||||||
| chr17:17531737
|
A | T | 2 | a0001c0001t0001g0041a0001c0001t0001g0061 | 2 | HG02698.hp2 HG03688.hp2 |
intron_variant | MODIFIER | c.205-9342T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17531737 | ||||||
| chr17:17531739
|
C | T | 1 | a0002c0002t0001g0140 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.205-9344G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17531739 | ||||||
| chr17:17531757
|
C | T | 69 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(66): Show | 74 | HG00280.hp2 HG00323.hp2 HG00408.hp2 others(71): Show |
intron_variant | MODIFIER | c.205-9362G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17531757 | ||||||
| chr17:17531804
|
T | C | 2 | a0009c0013t0001g0055a0010c0014t0001g0048 | 2 | HG01358.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.205-9409A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17531804 | ||||||
| chr17:17531865
|
G | C | 55 | a0001c0001t0001g0102a0001c0001t0001g0118a0001c0001t0001g0119others(52): Show | 55 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(52): Show |
intron_variant | MODIFIER | c.205-9470C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17531865 | ||||||
| chr17:17532397
|
G | T | 1 | a0001c0001t0001g0152 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.205-10002C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17532397 | ||||||
| chr17:17532601
|
G | A | 3 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0092 | 3 | HG02451.hp2 HG02615.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.205-10206C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17532601 | ||||||
| chr17:17532717
|
A | T | 5 | a0001c0001t0001g0151a0001c0001t0001g0175a0001c0001t0001g0177others(2): Show | 5 | HG02572.hp2 HG02818.hp1 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.205-10322T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17532717 | ||||||
| chr17:17532798
|
C | T | 1 | a0001c0001t0001g0069 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.205-10403G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17532798 | ||||||
| chr17:17532821
|
A | T | 1 | a0003c0003t0001g0135 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.205-10426T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17532821 | ||||||
| chr17:17532849
|
G | A | 1 | a0002c0002t0001g0138 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.205-10454C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17532849 | ||||||
| chr17:17532987
|
A | G | 1 | a0001c0001t0001g0188 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.205-10592T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17532987 | ||||||
| chr17:17533137
|
C | T | 55 | a0001c0001t0001g0102a0001c0001t0001g0118a0001c0001t0001g0119others(52): Show | 55 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(52): Show |
intron_variant | MODIFIER | c.205-10742G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17533137 | ||||||
| chr17:17533394
|
T | C | 29 | a0001c0001t0001g0041a0001c0001t0001g0061a0001c0001t0001g0093others(26): Show | 29 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(26): Show |
intron_variant | MODIFIER | c.205-10999A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17533394 | ||||||
| chr17:17533587
|
AG | A | 3 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0092 | 3 | HG02451.hp2 HG02615.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.205-11193delC | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17533587 | ||||||
| chr17:17533734
|
CT | C | 194 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(191): Show | 199 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(196): Show |
intron_variant | MODIFIER | c.205-11340delA | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17533734 | ||||||
| chr17:17533736
|
T | C | 1 | a0001c0001t0001g0281 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.205-11341A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17533736 | ||||||
| chr17:17533780
|
G | T | 1 | a0005c0006t0002g0006 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.205-11385C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17533780 | ||||||
| chr17:17533983
|
C | T | 55 | a0001c0001t0001g0102a0001c0001t0001g0118a0001c0001t0001g0119others(52): Show | 55 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(52): Show |
intron_variant | MODIFIER | c.205-11588G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17533983 | ||||||
| chr17:17534106
|
G | A | 2 | a0001c0001t0001g0337a0001c0001t0001g0338 | 2 | NA18995.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.205-11711C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17534106 | ||||||
| chr17:17534128
|
G | A | 1 | a0001c0001t0001g0152 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.205-11733C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17534128 | ||||||
| chr17:17534667
|
A | G | 1 | a0001c0001t0001g0072 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.205-12272T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17534667 | ||||||
| chr17:17534717
|
C | T | 206 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(203): Show | 211 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(208): Show |
intron_variant | MODIFIER | c.205-12322G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17534717 | ||||||
| chr17:17534771
|
T | C | 206 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(203): Show | 211 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(208): Show |
intron_variant | MODIFIER | c.205-12376A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17534771 | ||||||
| chr17:17534804
|
C | T | 55 | a0001c0001t0001g0102a0001c0001t0001g0118a0001c0001t0001g0119others(52): Show | 55 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(52): Show |
intron_variant | MODIFIER | c.205-12409G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17534804 | ||||||
| chr17:17534823
|
T | C | 22 | a0001c0001t0001g0024a0001c0001t0001g0069a0001c0001t0001g0151others(19): Show | 22 | HG00544.hp2 HG01884.hp1 HG02040.hp1 others(19): Show |
intron_variant | MODIFIER | c.205-12428A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17534823 | ||||||
| chr17:17534895
|
C | CTATTT | 4 | a0002c0002t0001g0124a0002c0002t0001g0138a0002c0009t0001g0308others(1): Show | 4 | HG01243.hp1 HG03239.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.205-12505_205-1250 others(9): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17534895 | ||||||
| chr17:17534895
|
C | CTATTTTA others(3): Show |
1 | a0001c0001t0001g0300 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.205-12510_205-1250 others(14): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17534895 | ||||||
| chr17:17534895
|
CTATTT | C | 90 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(87): Show | 95 | HG00280.hp2 HG00323.hp2 HG00408.hp2 others(92): Show |
intron_variant | MODIFIER | c.205-12505_205-1250 others(9): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17534895 | ||||||
| chr17:17534895
|
CTATTTTA others(3): Show |
C | 36 | a0001c0001t0001g0041a0001c0001t0001g0061a0001c0001t0001g0093others(33): Show | 36 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(33): Show |
intron_variant | MODIFIER | c.205-12510_205-1250 others(14): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17534895 | ||||||
| chr17:17534895
|
CTATTTTA others(8): Show |
C | 23 | a0001c0001t0001g0024a0001c0001t0001g0069a0001c0001t0001g0151others(20): Show | 23 | HG00544.hp2 HG01884.hp1 HG02040.hp1 others(20): Show |
intron_variant | MODIFIER | c.205-12515_205-1250 others(19): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17534895 | ||||||
| chr17:17535004
|
G | A | 145 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(142): Show | 150 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(147): Show |
intron_variant | MODIFIER | c.205-12609C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17535004 | ||||||
| chr17:17535084
|
T | C | 2 | a0009c0013t0001g0055a0010c0014t0001g0048 | 2 | HG01358.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.205-12689A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17535084 | ||||||
| chr17:17535198
|
C | T | 6 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0092others(3): Show | 6 | HG01358.hp1 HG01884.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.205-12803G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17535198 | ||||||
| chr17:17535374
|
T | C | 5 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0092others(2): Show | 5 | HG01358.hp1 HG02451.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.205-12979A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17535374 | ||||||
| chr17:17535567
|
GA | G | 55 | a0001c0001t0001g0102a0001c0001t0001g0118a0001c0001t0001g0119others(52): Show | 55 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(52): Show |
intron_variant | MODIFIER | c.205-13173delT | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17535567 | ||||||
| chr17:17535567
|
GAA | G | 143 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(140): Show | 148 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(145): Show |
intron_variant | MODIFIER | c.205-13174_205-1317 others(6): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17535567 | ||||||
| chr17:17535713
|
G | A | 1 | a0001c0001t0001g0339 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.205-13318C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17535713 | ||||||
| chr17:17535937
|
C | T | 2 | a0001c0001t0001g0218a0001c0001t0001g0220 | 2 | HG02523.hp2 NA19004.hp1 |
intron_variant | MODIFIER | c.205-13542G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17535937 | ||||||
| chr17:17535962
|
T | A | 1 | a0001c0001t0001g0314 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.205-13567A>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17535962 | ||||||
| chr17:17535963
|
C | A | 1 | a0001c0001t0001g0314 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.205-13568G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17535963 | ||||||
| chr17:17536003
|
C | T | 2 | a0001c0001t0001g0072a0001c0001t0001g0073 | 2 | HG02451.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.205-13608G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17536003 | ||||||
| chr17:17536024
|
G | A | 5 | a0001c0001t0001g0045a0001c0001t0001g0049a0001c0001t0001g0275others(2): Show | 5 | HG01109.hp2 HG01256.hp1 HG01257.hp1 others(2): Show |
intron_variant | MODIFIER | c.205-13629C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17536024 | ||||||
| chr17:17536144
|
C | T | 146 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(143): Show | 151 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(148): Show |
intron_variant | MODIFIER | c.205-13749G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17536144 | ||||||
| chr17:17536351
|
A | G | 1 | a0005c0006t0002g0006 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.205-13956T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17536351 | ||||||
| chr17:17536479
|
C | T | 122 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(119): Show | 127 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(124): Show |
intron_variant | MODIFIER | c.205-14084G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17536479 | ||||||
| chr17:17536481
|
G | A | 1 | a0002c0002t0001g0018 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.205-14086C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17536481 | ||||||
| chr17:17536573
|
C | T | 1 | a0003c0003t0001g0144 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.205-14178G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17536573 | ||||||
| chr17:17536574
|
G | A | 2 | a0003c0003t0001g0067a0004c0005t0001g0025 | 2 | HG02698.hp1 NA18948.hp2 |
intron_variant | MODIFIER | c.205-14179C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17536574 | ||||||
| chr17:17536792
|
C | T | 1 | a0001c0001t0001g0179 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.205-14397G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17536792 | ||||||
| chr17:17536877
|
G | A | 1 | a0001c0001t0001g0026 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.205-14482C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17536877 | ||||||
| chr17:17537202
|
G | A | 146 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(143): Show | 151 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(148): Show |
intron_variant | MODIFIER | c.205-14807C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17537202 | ||||||
| chr17:17537230
|
G | A | 3 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0092 | 3 | HG02451.hp2 HG02615.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.205-14835C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17537230 | ||||||
| chr17:17537281
|
A | C | 146 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(143): Show | 151 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(148): Show |
intron_variant | MODIFIER | c.205-14886T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17537281 | ||||||
| chr17:17537446
|
C | T | 1 | a0002c0002t0001g0129 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.205-15051G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17537446 | ||||||
| chr17:17537496
|
C | T | 1 | a0001c0001t0001g0092 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.205-15101G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17537496 | ||||||
| chr17:17537509
|
C | T | 55 | a0001c0001t0001g0102a0001c0001t0001g0118a0001c0001t0001g0119others(52): Show | 55 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(52): Show |
intron_variant | MODIFIER | c.205-15114G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17537509 | ||||||
| chr17:17537515
|
G | A | 3 | a0001c0001t0001g0082a0001c0001t0001g0088a0002c0002t0001g0153 | 3 | HG02257.hp2 HG03139.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.205-15120C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17537515 | ||||||
| chr17:17537601
|
G | T | 11 | a0001c0001t0001g0102a0001c0001t0001g0175a0001c0001t0001g0176others(8): Show | 11 | HG02055.hp2 HG02886.hp1 HG02896.hp2 others(8): Show |
intron_variant | MODIFIER | c.205-15206C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17537601 | ||||||
| chr17:17537777
|
G | A | 5 | a0001c0001t0001g0277a0001c0001t0001g0281a0001c0001t0001g0288others(2): Show | 5 | NA18942.hp1 NA18952.hp1 NA18973.hp1 others(2): Show |
intron_variant | MODIFIER | c.205-15382C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17537777 | ||||||
| chr17:17538045
|
C | A | 146 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(143): Show | 151 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(148): Show |
intron_variant | MODIFIER | c.205-15650G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17538045 | ||||||
| chr17:17538055
|
C | G | 146 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(143): Show | 151 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(148): Show |
intron_variant | MODIFIER | c.205-15660G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17538055 | ||||||
| chr17:17538380
|
C | T | 1 | a0001c0001t0001g0152 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.205-15985G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17538380 | ||||||
| chr17:17538527
|
C | G | 1 | a0006c0008t0001g0013 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.205-16132G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17538527 | ||||||
| chr17:17538563
|
GA | G | 143 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(140): Show | 148 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(145): Show |
intron_variant | MODIFIER | c.205-16169delT | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17538563 | ||||||
| chr17:17538806
|
G | C | 18 | a0001c0001t0001g0102a0001c0001t0001g0120a0001c0001t0001g0121others(15): Show | 18 | HG01433.hp1 HG01891.hp2 HG02055.hp2 others(15): Show |
intron_variant | MODIFIER | c.205-16411C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17538806 | ||||||
| chr17:17539056
|
C | G | 1 | a0006c0008t0001g0013 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.205-16661G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17539056 | ||||||
| chr17:17539169
|
T | C | 2 | a0003c0004t0001g0040a0003c0004t0001g0054 | 2 | HG01192.hp2 NA20805.hp1 |
intron_variant | MODIFIER | c.205-16774A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17539169 | ||||||
| chr17:17539776
|
A | G | 208 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(205): Show | 214 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(211): Show |
intron_variant | MODIFIER | c.205-17381T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17539776 | ||||||
| chr17:17539999
|
G | C | 1 | a0002c0002t0001g0116 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.205-17604C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17539999 | ||||||
| chr17:17540084
|
A | C | 2 | a0002c0002t0001g0160a0002c0002t0001g0167 | 2 | HG00544.hp2 HG02040.hp1 |
intron_variant | MODIFIER | c.205-17689T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17540084 | ||||||
| chr17:17540091
|
G | A | 2 | a0001c0001t0001g0295a0002c0009t0001g0308 | 2 | NA18941.hp1 NA18947.hp1 |
intron_variant | MODIFIER | c.205-17696C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17540091 | ||||||
| chr17:17540218
|
C | T | 1 | a0003c0003t0001g0043 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.205-17823G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17540218 | ||||||
| chr17:17540261
|
C | A | 1 | a0001c0001t0001g0121 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.205-17866G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17540261 | ||||||
| chr17:17540286
|
C | T | 1 | a0002c0002t0001g0153 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.205-17891G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17540286 | ||||||
| chr17:17540385
|
C | T | 2 | a0009c0013t0001g0055a0010c0014t0001g0048 | 2 | HG01358.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.205-17990G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17540385 | ||||||
| chr17:17540438
|
A | G | 5 | a0002c0002t0001g0226a0002c0002t0001g0231a0002c0002t0001g0232others(2): Show | 5 | HG01081.hp2 HG01123.hp2 HG01168.hp2 others(2): Show |
intron_variant | MODIFIER | c.205-18043T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17540438 | ||||||
| chr17:17540471
|
G | A | 5 | a0001c0001t0001g0107a0001c0001t0001g0111a0001c0001t0001g0113others(2): Show | 5 | HG00673.hp2 HG02071.hp1 HG02080.hp1 others(2): Show |
intron_variant | MODIFIER | c.205-18076C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17540471 | ||||||
| chr17:17540570
|
G | A | 1 | a0002c0002t0001g0138 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.205-18175C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17540570 | ||||||
| chr17:17540776
|
C | T | 2 | a0001c0001t0001g0091a0001c0001t0001g0174 | 2 | HG02818.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.205-18381G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17540776 | ||||||
| chr17:17540789
|
G | A | 1 | a0001c0001t0001g0259 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.205-18394C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17540789 | ||||||
| chr17:17540962
|
T | C | 5 | a0001c0001t0001g0122a0002c0002t0001g0127a0002c0002t0001g0128others(2): Show | 5 | HG01070.hp2 HG02630.hp1 HG02895.hp2 others(2): Show |
intron_variant | MODIFIER | c.205-18567A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17540962 | ||||||
| chr17:17540963
|
T | G | 55 | a0001c0001t0001g0102a0001c0001t0001g0118a0001c0001t0001g0119others(52): Show | 55 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(52): Show |
intron_variant | MODIFIER | c.205-18568A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17540963 | ||||||
| chr17:17541009
|
C | T | 1 | a0001c0001t0001g0084 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.205-18614G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17541009 | ||||||
| chr17:17541035
|
C | A | 146 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(143): Show | 151 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(148): Show |
intron_variant | MODIFIER | c.205-18640G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17541035 | ||||||
| chr17:17541052
|
A | G | 55 | a0001c0001t0001g0102a0001c0001t0001g0118a0001c0001t0001g0119others(52): Show | 55 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(52): Show |
intron_variant | MODIFIER | c.205-18657T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17541052 | ||||||
| chr17:17541055
|
G | A | 122 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(119): Show | 127 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(124): Show |
intron_variant | MODIFIER | c.205-18660C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17541055 | ||||||
| chr17:17541188
|
G | A | 3 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0092 | 3 | HG02451.hp2 HG02615.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.205-18793C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17541188 | ||||||
| chr17:17541270
|
G | T | 146 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(143): Show | 151 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(148): Show |
intron_variant | MODIFIER | c.205-18875C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17541270 | ||||||
| chr17:17541324
|
C | T | 22 | a0001c0001t0001g0069a0001c0001t0001g0151a0001c0001t0001g0155others(19): Show | 22 | HG00544.hp2 HG01884.hp1 HG02040.hp1 others(19): Show |
intron_variant | MODIFIER | c.205-18929G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17541324 | ||||||
| chr17:17541411
|
G | C | 1 | a0002c0002t0001g0018 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.205-19016C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17541411 | ||||||
| chr17:17541424
|
G | C | 1 | a0003c0004t0001g0053 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.205-19029C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17541424 | ||||||
| chr17:17541471
|
C | T | 1 | a0002c0012t0001g0292 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.205-19076G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17541471 | ||||||
| chr17:17541476
|
G | T | 55 | a0001c0001t0001g0102a0001c0001t0001g0118a0001c0001t0001g0119others(52): Show | 55 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(52): Show |
intron_variant | MODIFIER | c.205-19081C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17541476 | ||||||
| chr17:17541560
|
G | A | 146 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(143): Show | 151 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(148): Show |
intron_variant | MODIFIER | c.205-19165C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17541560 | ||||||
| chr17:17541985
|
C | A | 2 | a0009c0013t0001g0055a0010c0014t0001g0048 | 2 | HG01358.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.205-19590G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17541985 | ||||||
| chr17:17542223
|
T | C | 146 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(143): Show | 151 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(148): Show |
intron_variant | MODIFIER | c.205-19828A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17542223 | ||||||
| chr17:17542224
|
A | G | 146 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(143): Show | 151 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(148): Show |
intron_variant | MODIFIER | c.205-19829T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17542224 | ||||||
| chr17:17542227
|
C | T | 146 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(143): Show | 151 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(148): Show |
intron_variant | MODIFIER | c.205-19832G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17542227 | ||||||
| chr17:17542232
|
C | T | 146 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(143): Show | 151 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(148): Show |
intron_variant | MODIFIER | c.205-19837G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17542232 | ||||||
| chr17:17542233
|
A | G | 146 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(143): Show | 151 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(148): Show |
intron_variant | MODIFIER | c.205-19838T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17542233 | ||||||
| chr17:17542237
|
TC | T | 146 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(143): Show | 151 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(148): Show |
intron_variant | MODIFIER | c.205-19843delG | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17542237 | ||||||
| chr17:17542245
|
A | T | 146 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(143): Show | 151 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(148): Show |
intron_variant | MODIFIER | c.205-19850T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17542245 | ||||||
| chr17:17542272
|
C | T | 1 | a0001c0001t0001g0316 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.205-19877G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17542272 | ||||||
| chr17:17542308
|
C | T | 1 | a0002c0002t0001g0224 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.205-19913G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17542308 | ||||||
| chr17:17542344
|
G | T | 2 | a0001c0001t0001g0028a0001c0001t0001g0037 | 2 | HG03831.hp1 NA19090.hp2 |
intron_variant | MODIFIER | c.205-19949C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17542344 | ||||||
| chr17:17542366
|
G | T | 146 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(143): Show | 151 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(148): Show |
intron_variant | MODIFIER | c.205-19971C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17542366 | ||||||
| chr17:17542776
|
G | T | 1 | a0001c0001t0001g0340 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.205-20381C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17542776 | ||||||
| chr17:17542789
|
T | C | 208 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(205): Show | 214 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(211): Show |
intron_variant | MODIFIER | c.205-20394A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17542789 | ||||||
| chr17:17542908
|
C | T | 2 | a0002c0002t0001g0260a0002c0002t0001g0261 | 2 | HG01515.hp2 HG01517.hp1 |
intron_variant | MODIFIER | c.205-20513G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17542908 | ||||||
| chr17:17542940
|
G | A | 1 | a0001c0001t0001g0028 | 1 | NA19090.hp2 | intron_variant | MODIFIER | c.205-20545C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17542940 | ||||||
| chr17:17543008
|
G | A | 2 | a0004c0005t0001g0206a0004c0005t0001g0207 | 2 | HG02896.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.205-20613C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17543008 | ||||||
| chr17:17543118
|
G | A | 1 | a0001c0001t0001g0230 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.205-20723C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17543118 | ||||||
| chr17:17543170
|
G | A | 6 | a0001c0001t0001g0152a0001c0001t0001g0157a0001c0001t0001g0171others(3): Show | 6 | HG01433.hp1 HG01891.hp2 HG02145.hp1 others(3): Show |
intron_variant | MODIFIER | c.205-20775C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17543170 | ||||||
| chr17:17543313
|
C | T | 1 | a0002c0002t0001g0257 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.205-20918G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17543313 | ||||||
| chr17:17543452
|
C | T | 1 | a0001c0001t0001g0110 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.205-21057G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17543452 | ||||||
| chr17:17543626
|
G | A | 57 | a0001c0001t0001g0102a0001c0001t0001g0118a0001c0001t0001g0119others(54): Show | 58 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(55): Show |
intron_variant | MODIFIER | c.205-21231C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17543626 | ||||||
| chr17:17543824
|
G | A | 187 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(184): Show | 193 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(190): Show |
intron_variant | MODIFIER | c.205-21429C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17543824 | ||||||
| chr17:17544064
|
T | C | 2 | a0002c0002t0001g0126a0002c0002t0001g0136 | 2 | HG00099.hp2 HG00639.hp1 |
intron_variant | MODIFIER | c.205-21669A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17544064 | ||||||
| chr17:17544236
|
C | T | 2 | a0002c0002t0001g0236a0002c0002t0001g0237 | 2 | HG01167.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.205-21841G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17544236 | ||||||
| chr17:17544284
|
CT | C | 54 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0092others(51): Show | 54 | HG00140.hp2 HG00280.hp1 HG01069.hp2 others(51): Show |
intron_variant | MODIFIER | c.205-21890delA | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17544284 | ||||||
| chr17:17544545
|
G | T | 203 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(200): Show | 208 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(205): Show |
intron_variant | MODIFIER | c.205-22150C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17544545 | ||||||
| chr17:17544848
|
G | T | 1 | a0001c0001t0001g0289 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.205-22453C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17544848 | ||||||
| chr17:17545000
|
C | T | 1 | a0002c0002t0001g0322 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.205-22605G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17545000 | ||||||
| chr17:17545001
|
G | A | 4 | a0005c0006t0001g0009a0005c0006t0001g0010a0005c0006t0001g0011others(1): Show | 4 | HG02486.hp2 HG03471.hp2 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.205-22606C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17545001 | ||||||
| chr17:17545265
|
C | T | 1 | a0002c0002t0001g0137 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.205-22870G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17545265 | ||||||
| chr17:17545275
|
C | T | 16 | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0001g0095others(13): Show | 16 | HG00099.hp1 HG00423.hp2 HG01952.hp2 others(13): Show |
intron_variant | MODIFIER | c.205-22880G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17545275 | ||||||
| chr17:17545280
|
C | T | 27 | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0001g0095others(24): Show | 27 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(24): Show |
intron_variant | MODIFIER | c.205-22885G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17545280 | ||||||
| chr17:17545296
|
C | A | 13 | a0001c0001t0001g0074a0001c0001t0001g0077a0001c0001t0001g0078others(10): Show | 13 | HG01109.hp1 HG02451.hp1 HG02559.hp2 others(10): Show |
intron_variant | MODIFIER | c.205-22901G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17545296 | ||||||
| chr17:17545377
|
A | G | 127 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(124): Show | 132 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(129): Show |
intron_variant | MODIFIER | c.205-22982T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17545377 | ||||||
| chr17:17545428
|
G | T | 23 | a0001c0001t0001g0024a0001c0001t0001g0069a0001c0001t0001g0151others(20): Show | 23 | HG00544.hp2 HG01884.hp1 HG02040.hp1 others(20): Show |
intron_variant | MODIFIER | c.205-23033C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17545428 | ||||||
| chr17:17545581
|
A | T | 5 | a0001c0001t0001g0156a0001c0001t0001g0161a0001c0001t0001g0166others(2): Show | 5 | NA18946.hp1 NA18950.hp1 NA18995.hp2 others(2): Show |
intron_variant | MODIFIER | c.205-23186T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17545581 | ||||||
| chr17:17545715
|
T | C | 2 | a0003c0003t0001g0033a0003c0003t0001g0034 | 2 | HG00323.hp2 HG01517.hp2 |
intron_variant | MODIFIER | c.205-23320A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17545715 | ||||||
| chr17:17545820
|
T | G | 33 | a0001c0001t0001g0024a0001c0001t0001g0069a0001c0001t0001g0102others(30): Show | 33 | HG00544.hp2 HG01099.hp1 HG01884.hp1 others(30): Show |
intron_variant | MODIFIER | c.205-23425A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17545820 | ||||||
| chr17:17546073
|
T | C | 1 | a0003c0003t0001g0051 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.205-23678A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17546073 | ||||||
| chr17:17546186
|
G | A | 3 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0092 | 3 | HG02451.hp2 HG02615.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.205-23791C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17546186 | ||||||
| chr17:17546238
|
A | G | 3 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0092 | 3 | HG02451.hp2 HG02615.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.205-23843T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17546238 | ||||||
| chr17:17546271
|
C | T | 1 | a0001c0001t0001g0152 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.205-23876G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17546271 | ||||||
| chr17:17546603
|
G | T | 10 | a0002c0002t0001g0117a0002c0002t0001g0124a0002c0002t0001g0125others(7): Show | 10 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(7): Show |
intron_variant | MODIFIER | c.205-24208C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17546603 | ||||||
| chr17:17546879
|
C | T | 3 | a0001c0001t0002g0075a0001c0001t0002g0325a0005c0006t0002g0006 | 3 | HG02055.hp1 HG03516.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.205-24484G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17546879 | ||||||
| chr17:17547000
|
G | A | 2 | a0001c0001t0001g0218a0001c0001t0001g0220 | 2 | HG02523.hp2 NA19004.hp1 |
intron_variant | MODIFIER | c.205-24605C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17547000 | ||||||
| chr17:17547005
|
C | T | 2 | a0001c0001t0001g0164a0001c0001t0001g0170 | 2 | NA18943.hp2 NA18969.hp2 |
intron_variant | MODIFIER | c.205-24610G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17547005 | ||||||
| chr17:17547131
|
A | G | 341 | a0001c0001t0001g0014a0001c0001t0001g0016a0001c0001t0001g0019others(338): Show | 347 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(344): Show |
intron_variant | MODIFIER | c.205-24736T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17547131 | ||||||
| chr17:17547426
|
C | T | 5 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0092others(2): Show | 5 | HG01358.hp1 HG02451.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.205-25031G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17547426 | ||||||
| chr17:17547657
|
CTCCTCCT others(20): Show |
C | 6 | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0001g0101others(3): Show | 6 | HG00423.hp2 NA18612.hp2 NA18952.hp2 others(3): Show |
intron_variant | MODIFIER | c.205-25289_205-2526 others(31): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17547657 | ||||||
| chr17:17547687
|
C | T | 1 | a0001c0001t0001g0152 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.205-25292G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17547687 | ||||||
| chr17:17548073
|
C | G | 2 | a0001c0001t0001g0164a0001c0001t0001g0170 | 2 | NA18943.hp2 NA18969.hp2 |
intron_variant | MODIFIER | c.205-25678G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17548073 | ||||||
| chr17:17548488
|
A | G | 1 | a0002c0002t0001g0201 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.205-26093T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17548488 | ||||||
| chr17:17548534
|
G | A | 1 | a0001c0001t0001g0235 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.205-26139C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17548534 | ||||||
| chr17:17548534
|
G | C | 1 | a0004c0005t0001g0046 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.205-26139C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17548534 | ||||||
| chr17:17548592
|
A | G | 1 | a0001c0001t0001g0092 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.205-26197T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17548592 | ||||||
| chr17:17548611
|
C | T | 1 | a0001c0001t0001g0110 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.205-26216G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17548611 | ||||||
| chr17:17548699
|
C | A | 1 | a0001c0001t0001g0037 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.205-26304G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17548699 | ||||||
| chr17:17549178
|
A | C | 1 | a0001c0001t0001g0152 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.205-26783T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17549178 | ||||||
| chr17:17549198
|
G | A | 144 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(141): Show | 149 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(146): Show |
intron_variant | MODIFIER | c.205-26803C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17549198 | ||||||
| chr17:17549317
|
G | A | 27 | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0001g0095others(24): Show | 27 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(24): Show |
intron_variant | MODIFIER | c.205-26922C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17549317 | ||||||
| chr17:17549451
|
G | A | 1 | a0002c0002t0001g0153 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.205-27056C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17549451 | ||||||
| chr17:17549498
|
G | A | 1 | a0003c0004t0001g0040 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.205-27103C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17549498 | ||||||
| chr17:17549753
|
C | T | 122 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(119): Show | 127 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(124): Show |
intron_variant | MODIFIER | c.204+27167G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17549753 | ||||||
| chr17:17549818
|
G | A | 1 | a0002c0002t0001g0238 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.204+27102C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17549818 | ||||||
| chr17:17549858
|
G | A | 1 | a0001c0001t0001g0169 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.204+27062C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17549858 | ||||||
| chr17:17549958
|
G | C | 1 | a0001c0001t0001g0156 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.204+26962C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17549958 | ||||||
| chr17:17550039
|
G | A | 1 | a0002c0002t0001g0227 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.204+26881C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17550039 | ||||||
| chr17:17550068
|
T | G | 1 | a0001c0001t0001g0152 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.204+26852A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17550068 | ||||||
| chr17:17550175
|
C | A | 1 | a0003c0003t0001g0267 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.204+26745G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17550175 | ||||||
| chr17:17550183
|
C | T | 6 | a0001c0001t0001g0107a0001c0001t0001g0110a0001c0001t0001g0111others(3): Show | 6 | HG00673.hp2 HG02071.hp1 HG02080.hp1 others(3): Show |
intron_variant | MODIFIER | c.204+26737G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17550183 | ||||||
| chr17:17550213
|
G | A | 1 | a0002c0002t0001g0219 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.204+26707C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17550213 | ||||||
| chr17:17550225
|
C | G | 1 | a0001c0001t0001g0092 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.204+26695G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17550225 | ||||||
| chr17:17550420
|
G | A | 1 | a0002c0002t0001g0274 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.204+26500C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17550420 | ||||||
| chr17:17550615
|
T | C | 12 | a0001c0001t0001g0214a0001c0001t0001g0235a0001c0001t0001g0262others(9): Show | 14 | HG00408.hp2 HG01978.hp1 HG02015.hp1 others(11): Show |
intron_variant | MODIFIER | c.204+26305A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17550615 | ||||||
| chr17:17550674
|
C | T | 26 | a0001c0001t0001g0069a0001c0001t0001g0151a0001c0001t0001g0155others(23): Show | 26 | HG00544.hp2 HG01884.hp1 HG02040.hp1 others(23): Show |
intron_variant | MODIFIER | c.204+26246G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17550674 | ||||||
| chr17:17550777
|
G | C | 1 | a0002c0002t0001g0328 | 1 | NA18959.hp2 | intron_variant | MODIFIER | c.204+26143C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17550777 | ||||||
| chr17:17550878
|
A | G | 5 | a0001c0001t0001g0045a0001c0001t0001g0049a0001c0001t0001g0291others(2): Show | 5 | HG01106.hp1 HG01257.hp1 HG01258.hp1 others(2): Show |
intron_variant | MODIFIER | c.204+26042T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17550878 | ||||||
| chr17:17551166
|
A | G | 1 | a0002c0002t0001g0228 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.204+25754T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17551166 | ||||||
| chr17:17551314
|
C | T | 27 | a0001c0001t0001g0069a0001c0001t0001g0151a0001c0001t0001g0155others(24): Show | 27 | HG00544.hp2 HG01884.hp1 HG02040.hp1 others(24): Show |
intron_variant | MODIFIER | c.204+25606G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17551314 | ||||||
| chr17:17551451
|
G | T | 22 | a0001c0001t0001g0120a0001c0001t0001g0121a0001c0001t0001g0157others(19): Show | 23 | HG01069.hp1 HG01071.hp1 HG01099.hp2 others(20): Show |
intron_variant | MODIFIER | c.204+25469C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17551451 | ||||||
| chr17:17551495
|
C | T | 1 | a0001c0001t0001g0151 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.204+25425G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17551495 | ||||||
| chr17:17551569
|
C | T | 27 | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0001g0095others(24): Show | 27 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(24): Show |
intron_variant | MODIFIER | c.204+25351G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17551569 | ||||||
| chr17:17551582
|
C | G | 15 | a0001c0001t0001g0074a0001c0001t0001g0077a0001c0001t0001g0078others(12): Show | 15 | HG01109.hp1 HG02451.hp1 HG02559.hp2 others(12): Show |
intron_variant | MODIFIER | c.204+25338G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17551582 | ||||||
| chr17:17551623
|
G | T | 1 | a0001c0001t0001g0024 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.204+25297C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17551623 | ||||||
| chr17:17551717
|
T | C | 5 | a0001c0001t0001g0157a0001c0001t0001g0171a0001c0001t0001g0198others(2): Show | 5 | HG01433.hp1 HG01891.hp2 HG02145.hp1 others(2): Show |
intron_variant | MODIFIER | c.204+25203A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17551717 | ||||||
| chr17:17551724
|
G | C | 20 | a0001c0001t0001g0120a0001c0001t0001g0121a0001c0001t0001g0157others(17): Show | 21 | HG01069.hp1 HG01071.hp1 HG01099.hp2 others(18): Show |
intron_variant | MODIFIER | c.204+25196C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17551724 | ||||||
| chr17:17551736
|
C | T | 4 | a0001c0001t0001g0320a0001c0001t0001g0321a0002c0002t0001g0324others(1): Show | 4 | HG01255.hp2 HG01358.hp2 HG01928.hp1 others(1): Show |
intron_variant | MODIFIER | c.204+25184G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17551736 | ||||||
| chr17:17551863
|
G | A | 1 | a0006c0008t0001g0013 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.204+25057C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17551863 | ||||||
| chr17:17551878
|
G | A | 82 | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0001g0095others(79): Show | 83 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(80): Show |
intron_variant | MODIFIER | c.204+25042C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17551878 | ||||||
| chr17:17551882
|
C | T | 33 | a0001c0001t0001g0118a0001c0001t0001g0119a0001c0001t0001g0122others(30): Show | 33 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(30): Show |
intron_variant | MODIFIER | c.204+25038G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17551882 | ||||||
| chr17:17552030
|
C | T | 1 | a0001c0001t0001g0156 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.204+24890G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17552030 | ||||||
| chr17:17552060
|
G | C | 15 | a0001c0001t0001g0074a0001c0001t0001g0077a0001c0001t0001g0078others(12): Show | 15 | HG01109.hp1 HG02451.hp1 HG02559.hp2 others(12): Show |
intron_variant | MODIFIER | c.204+24860C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17552060 | ||||||
| chr17:17552119
|
T | G | 1 | a0003c0004t0001g0109 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.204+24801A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17552119 | ||||||
| chr17:17552150
|
A | G | 33 | a0001c0001t0001g0118a0001c0001t0001g0119a0001c0001t0001g0122others(30): Show | 33 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(30): Show |
intron_variant | MODIFIER | c.204+24770T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17552150 | ||||||
| chr17:17552155
|
T | C | 27 | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0001g0095others(24): Show | 27 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(24): Show |
intron_variant | MODIFIER | c.204+24765A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17552155 | ||||||
| chr17:17552290
|
C | A | 1 | a0001c0001t0001g0080 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.204+24630G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17552290 | ||||||
| chr17:17552321
|
A | G | 1 | a0001c0001t0001g0259 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.204+24599T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17552321 | ||||||
| chr17:17552375
|
G | C | 1 | a0001c0001t0001g0028 | 1 | NA19090.hp2 | intron_variant | MODIFIER | c.204+24545C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17552375 | ||||||
| chr17:17552404
|
C | T | 1 | a0005c0006t0001g0007 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.204+24516G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17552404 | ||||||
| chr17:17552413
|
T | G | 1 | a0002c0002t0001g0018 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.204+24507A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17552413 | ||||||
| chr17:17552417
|
C | A | 1 | a0006c0008t0001g0013 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.204+24503G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17552417 | ||||||
| chr17:17552464
|
A | T | 27 | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0001g0095others(24): Show | 27 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(24): Show |
intron_variant | MODIFIER | c.204+24456T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17552464 | ||||||
| chr17:17552557
|
T | G | 27 | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0001g0095others(24): Show | 27 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(24): Show |
intron_variant | MODIFIER | c.204+24363A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17552557 | ||||||
| chr17:17552601
|
G | A | 9 | a0001c0001t0002g0075a0001c0001t0002g0325a0001c0001t0003g0005others(6): Show | 9 | HG01891.hp1 HG02055.hp1 HG02258.hp1 others(6): Show |
intron_variant | MODIFIER | c.204+24319C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17552601 | ||||||
| chr17:17552654
|
C | T | 1 | a0001c0001t0001g0103 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.204+24266G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17552654 | ||||||
| chr17:17552742
|
G | A | 1 | a0001c0001t0001g0275 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.204+24178C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17552742 | ||||||
| chr17:17552792
|
T | C | 1 | a0001c0001t0001g0223 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.204+24128A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17552792 | ||||||
| chr17:17552826
|
C | A | 27 | a0001c0001t0001g0069a0001c0001t0001g0151a0001c0001t0001g0155others(24): Show | 27 | HG00544.hp2 HG01884.hp1 HG02040.hp1 others(24): Show |
intron_variant | MODIFIER | c.204+24094G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17552826 | ||||||
| chr17:17552862
|
G | A | 3 | a0003c0003t0001g0022a0003c0003t0001g0038a0003c0003t0001g0065 | 3 | HG00280.hp2 HG01255.hp1 HG01993.hp1 |
intron_variant | MODIFIER | c.204+24058C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17552862 | ||||||
| chr17:17552976
|
C | T | 27 | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0001g0095others(24): Show | 27 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(24): Show |
intron_variant | MODIFIER | c.204+23944G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17552976 | ||||||
| chr17:17553120
|
G | T | 1 | a0002c0002t0001g0324 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.204+23800C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17553120 | ||||||
| chr17:17553170
|
C | T | 3 | a0001c0001t0001g0082a0001c0001t0001g0088a0002c0002t0001g0153 | 3 | HG02257.hp2 HG03139.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.204+23750G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17553170 | ||||||
| chr17:17553215
|
A | G | 2 | a0009c0013t0001g0055a0010c0014t0001g0048 | 2 | HG01358.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.204+23705T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17553215 | ||||||
| chr17:17553290
|
G | A | 27 | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0001g0095others(24): Show | 27 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(24): Show |
intron_variant | MODIFIER | c.204+23630C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17553290 | ||||||
| chr17:17553329
|
G | A | 27 | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0001g0095others(24): Show | 27 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(24): Show |
intron_variant | MODIFIER | c.204+23591C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17553329 | ||||||
| chr17:17553341
|
C | T | 1 | a0002c0002t0001g0136 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.204+23579G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17553341 | ||||||
| chr17:17553432
|
G | A | 33 | a0001c0001t0001g0118a0001c0001t0001g0119a0001c0001t0001g0122others(30): Show | 33 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(30): Show |
intron_variant | MODIFIER | c.204+23488C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17553432 | ||||||
| chr17:17553471
|
C | T | 11 | a0001c0001t0002g0075a0001c0001t0002g0325a0001c0001t0003g0005others(8): Show | 11 | HG01358.hp1 HG01891.hp1 HG02055.hp1 others(8): Show |
intron_variant | MODIFIER | c.204+23449G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17553471 | ||||||
| chr17:17553650
|
T | A | 2 | a0002c0002t0001g0129a0002c0002t0001g0132 | 2 | HG00741.hp2 HG02647.hp2 |
intron_variant | MODIFIER | c.204+23270A>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17553650 | ||||||
| chr17:17553664
|
G | A | 1 | a0004c0005t0001g0211 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.204+23256C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17553664 | ||||||
| chr17:17553814
|
C | T | 3 | a0001c0001t0001g0082a0001c0001t0001g0088a0002c0002t0001g0153 | 3 | HG02257.hp2 HG03139.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.204+23106G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17553814 | ||||||
| chr17:17553885
|
G | A | 1 | a0001c0001t0001g0105 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.204+23035C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17553885 | ||||||
| chr17:17553904
|
G | A | 11 | a0001c0001t0002g0075a0001c0001t0002g0325a0001c0001t0003g0005others(8): Show | 11 | HG01358.hp1 HG01891.hp1 HG02055.hp1 others(8): Show |
intron_variant | MODIFIER | c.204+23016C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17553904 | ||||||
| chr17:17553907
|
C | T | 27 | a0001c0001t0001g0069a0001c0001t0001g0151a0001c0001t0001g0155others(24): Show | 27 | HG00544.hp2 HG01884.hp1 HG02040.hp1 others(24): Show |
intron_variant | MODIFIER | c.204+23013G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17553907 | ||||||
| chr17:17553913
|
C | G | 34 | a0001c0001t0001g0118a0001c0001t0001g0119a0001c0001t0001g0122others(31): Show | 34 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(31): Show |
intron_variant | MODIFIER | c.204+23007G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17553913 | ||||||
| chr17:17554139
|
G | A | 1 | a0001c0001t0001g0061 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.204+22781C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17554139 | ||||||
| chr17:17554154
|
CTGTTTCT others(15): Show |
C | 1 | a0001c0001t0001g0110 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.204+22744_204+2276 others(26): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17554154 | ||||||
| chr17:17554219
|
G | A | 1 | a0002c0002t0001g0018 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.204+22701C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17554219 | ||||||
| chr17:17554260
|
G | A | 1 | a0005c0006t0001g0008 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.204+22660C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17554260 | ||||||
| chr17:17554301
|
T | G | 3 | a0001c0001t0001g0281a0001c0001t0001g0288a0002c0002t0001g0315 | 3 | NA18952.hp1 NA18997.hp1 NA19091.hp2 |
intron_variant | MODIFIER | c.204+22619A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17554301 | ||||||
| chr17:17554326
|
G | T | 1 | a0002c0002t0001g0116 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.204+22594C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17554326 | ||||||
| chr17:17554348
|
C | T | 9 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0080others(6): Show | 9 | HG01109.hp1 HG02451.hp1 HG02622.hp1 others(6): Show |
intron_variant | MODIFIER | c.204+22572G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17554348 | ||||||
| chr17:17554354
|
T | A | 11 | a0001c0001t0002g0075a0001c0001t0002g0325a0001c0001t0003g0005others(8): Show | 11 | HG01358.hp1 HG01891.hp1 HG02055.hp1 others(8): Show |
intron_variant | MODIFIER | c.204+22566A>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17554354 | ||||||
| chr17:17554397
|
C | T | 1 | a0001c0001t0001g0340 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.204+22523G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17554397 | ||||||
| chr17:17554440
|
A | G | 3 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0092 | 3 | HG02451.hp2 HG02615.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.204+22480T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17554440 | ||||||
| chr17:17554454
|
G | A | 34 | a0001c0001t0001g0118a0001c0001t0001g0119a0001c0001t0001g0122others(31): Show | 34 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(31): Show |
intron_variant | MODIFIER | c.204+22466C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17554454 | ||||||
| chr17:17554540
|
C | T | 2 | a0002c0002t0001g0004a0002c0002t0001g0173 | 3 | HG01069.hp1 HG01071.hp1 HG01099.hp2 |
intron_variant | MODIFIER | c.204+22380G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17554540 | ||||||
| chr17:17554546
|
C | T | 1 | a0001c0001t0001g0273 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.204+22374G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17554546 | ||||||
| chr17:17554569
|
G | C | 1 | a0004c0005t0001g0046 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.204+22351C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17554569 | ||||||
| chr17:17554600
|
A | T | 2 | a0001c0001t0001g0072a0001c0001t0001g0073 | 2 | HG02451.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.204+22320T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17554600 | ||||||
| chr17:17554661
|
GCT | G | 20 | a0001c0001t0001g0120a0001c0001t0001g0121a0001c0001t0001g0157others(17): Show | 21 | HG01069.hp1 HG01071.hp1 HG01099.hp2 others(18): Show |
intron_variant | MODIFIER | c.204+22257_204+2225 others(6): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17554661 | ||||||
| chr17:17554708
|
C | T | 3 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0092 | 3 | HG02451.hp2 HG02615.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.204+22212G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17554708 | ||||||
| chr17:17554709
|
G | A | 9 | a0001c0001t0001g0118a0001c0001t0001g0119a0001c0001t0001g0123others(6): Show | 9 | HG02280.hp2 HG02809.hp2 HG03041.hp1 others(6): Show |
intron_variant | MODIFIER | c.204+22211C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17554709 | ||||||
| chr17:17554765
|
G | A | 1 | a0002c0002t0001g0238 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.204+22155C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17554765 | ||||||
| chr17:17554905
|
C | T | 1 | a0001c0001t0001g0103 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.204+22015G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17554905 | ||||||
| chr17:17554910
|
C | T | 1 | a0003c0003t0001g0043 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.204+22010G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17554910 | ||||||
| chr17:17554912
|
G | A | 1 | a0001c0001t0001g0092 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.204+22008C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17554912 | ||||||
| chr17:17554922
|
T | A | 3 | a0002c0002t0001g0127a0002c0002t0001g0128a0002c0002t0001g0131 | 3 | HG02895.hp2 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.204+21998A>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17554922 | ||||||
| chr17:17555039
|
A | G | 56 | a0001c0001t0001g0118a0001c0001t0001g0119a0001c0001t0001g0120others(53): Show | 57 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(54): Show |
intron_variant | MODIFIER | c.204+21881T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17555039 | ||||||
| chr17:17555214
|
C | T | 2 | a0002c0002t0001g0238a0002c0002t0001g0251 | 2 | HG01952.hp1 NA18983.hp1 |
intron_variant | MODIFIER | c.204+21706G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17555214 | ||||||
| chr17:17555218
|
G | A | 1 | a0003c0004t0001g0015 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.204+21702C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17555218 | ||||||
| chr17:17555321
|
G | A | 27 | a0001c0001t0001g0069a0001c0001t0001g0151a0001c0001t0001g0155others(24): Show | 27 | HG00544.hp2 HG01884.hp1 HG02040.hp1 others(24): Show |
intron_variant | MODIFIER | c.204+21599C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17555321 | ||||||
| chr17:17555332
|
G | A | 2 | a0001c0001t0001g0094a0001c0001t0001g0101 | 2 | HG00423.hp2 NA19057.hp1 |
intron_variant | MODIFIER | c.204+21588C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17555332 | ||||||
| chr17:17555340
|
G | A | 2 | a0003c0003t0001g0030a0003c0003t0001g0066 | 2 | HG01168.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.204+21580C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17555340 | ||||||
| chr17:17555387
|
C | A | 1 | a0001c0001t0001g0340 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.204+21533G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17555387 | ||||||
| chr17:17555389
|
C | A | 27 | a0001c0001t0001g0069a0001c0001t0001g0151a0001c0001t0001g0155others(24): Show | 27 | HG00544.hp2 HG01884.hp1 HG02040.hp1 others(24): Show |
intron_variant | MODIFIER | c.204+21531G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17555389 | ||||||
| chr17:17555490
|
A | G | 1 | a0001c0001t0001g0122 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.204+21430T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17555490 | ||||||
| chr17:17555537
|
C | G | 2 | a0002c0002t0001g0236a0002c0002t0001g0237 | 2 | HG01167.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.204+21383G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17555537 | ||||||
| chr17:17555651
|
T | C | 20 | a0001c0001t0001g0120a0001c0001t0001g0121a0001c0001t0001g0157others(17): Show | 21 | HG01069.hp1 HG01071.hp1 HG01099.hp2 others(18): Show |
intron_variant | MODIFIER | c.204+21269A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17555651 | ||||||
| chr17:17555700
|
A | T | 5 | a0001c0001t0001g0216a0001c0001t0001g0233a0001c0001t0001g0248others(2): Show | 5 | HG01192.hp1 HG02717.hp1 HG02809.hp1 others(2): Show |
intron_variant | MODIFIER | c.204+21220T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17555700 | ||||||
| chr17:17555721
|
C | G | 202 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(199): Show | 208 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(205): Show |
intron_variant | MODIFIER | c.204+21199G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17555721 | ||||||
| chr17:17555786
|
G | C | 2 | a0001c0001t0001g0337a0001c0001t0001g0338 | 2 | NA18995.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.204+21134C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17555786 | ||||||
| chr17:17555790
|
C | T | 1 | a0001c0001t0001g0091 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.204+21130G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17555790 | ||||||
| chr17:17555818
|
T | G | 1 | a0001c0001t0001g0250 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.204+21102A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17555818 | ||||||
| chr17:17556101
|
G | A | 27 | a0001c0001t0001g0069a0001c0001t0001g0151a0001c0001t0001g0155others(24): Show | 27 | HG00544.hp2 HG01884.hp1 HG02040.hp1 others(24): Show |
intron_variant | MODIFIER | c.204+20819C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17556101 | ||||||
| chr17:17556108
|
C | T | 1 | a0002c0002t0001g0244 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.204+20812G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17556108 | ||||||
| chr17:17556185
|
A | G | 1 | a0002c0002t0001g0018 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.204+20735T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17556185 | ||||||
| chr17:17556202
|
C | T | 1 | a0002c0002t0001g0194 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.204+20718G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17556202 | ||||||
| chr17:17556226
|
C | G | 2 | a0009c0013t0001g0055a0010c0014t0001g0048 | 2 | HG01358.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.204+20694G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17556226 | ||||||
| chr17:17556306
|
T | C | 47 | a0001c0001t0001g0118a0001c0001t0001g0119a0001c0001t0001g0122others(44): Show | 47 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(44): Show |
intron_variant | MODIFIER | c.204+20614A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17556306 | ||||||
| chr17:17556340
|
G | A | 202 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(199): Show | 208 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(205): Show |
intron_variant | MODIFIER | c.204+20580C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17556340 | ||||||
| chr17:17556378
|
CT | C | 213 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(210): Show | 219 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
intron_variant | MODIFIER | c.204+20541delA | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17556378 | ||||||
| chr17:17556413
|
G | A | 11 | a0001c0001t0002g0075a0001c0001t0002g0325a0001c0001t0003g0005others(8): Show | 11 | HG01358.hp1 HG01891.hp1 HG02055.hp1 others(8): Show |
intron_variant | MODIFIER | c.204+20507C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17556413 | ||||||
| chr17:17556460
|
G | A | 1 | a0001c0001t0001g0091 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.204+20460C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17556460 | ||||||
| chr17:17556499
|
G | A | 1 | a0001c0001t0001g0317 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.204+20421C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17556499 | ||||||
| chr17:17556866
|
T | C | 213 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(210): Show | 219 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
intron_variant | MODIFIER | c.204+20054A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17556866 | ||||||
| chr17:17557226
|
C | T | 3 | a0001c0001t0001g0239a0001c0001t0001g0243a0001c0001t0001g0252 | 3 | HG01070.hp1 HG01071.hp2 HG01261.hp2 |
intron_variant | MODIFIER | c.204+19694G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17557226 | ||||||
| chr17:17557229
|
C | T | 20 | a0001c0001t0001g0120a0001c0001t0001g0121a0001c0001t0001g0157others(17): Show | 21 | HG01069.hp1 HG01071.hp1 HG01099.hp2 others(18): Show |
intron_variant | MODIFIER | c.204+19691G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17557229 | ||||||
| chr17:17557360
|
G | A | 70 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(67): Show | 75 | HG00280.hp2 HG00323.hp2 HG00408.hp2 others(72): Show |
intron_variant | MODIFIER | c.204+19560C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17557360 | ||||||
| chr17:17557478
|
C | T | 214 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(211): Show | 220 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(217): Show |
intron_variant | MODIFIER | c.204+19442G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17557478 | ||||||
| chr17:17557501
|
C | T | 1 | a0009c0013t0001g0055 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.204+19419G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17557501 | ||||||
| chr17:17557518
|
G | A | 1 | a0001c0001t0001g0026 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.204+19402C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17557518 | ||||||
| chr17:17557612
|
T | C | 47 | a0001c0001t0001g0118a0001c0001t0001g0119a0001c0001t0001g0122others(44): Show | 47 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(44): Show |
intron_variant | MODIFIER | c.204+19308A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17557612 | ||||||
| chr17:17557702
|
A | G | 3 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0092 | 3 | HG02451.hp2 HG02615.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.204+19218T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17557702 | ||||||
| chr17:17557801
|
C | T | 1 | a0001c0001t0001g0092 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.204+19119G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17557801 | ||||||
| chr17:17557872
|
G | T | 27 | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0001g0095others(24): Show | 27 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(24): Show |
intron_variant | MODIFIER | c.204+19048C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17557872 | ||||||
| chr17:17558041
|
G | A | 1 | a0002c0002t0001g0138 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.204+18879C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17558041 | ||||||
| chr17:17558121
|
C | T | 6 | a0001c0001t0001g0122a0002c0002t0001g0127a0002c0002t0001g0128others(3): Show | 6 | HG01070.hp2 HG02630.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.204+18799G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17558121 | ||||||
| chr17:17558189
|
A | AAC | 28 | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0001g0095others(25): Show | 28 | HG00099.hp1 HG00423.hp2 HG01358.hp1 others(25): Show |
intron_variant | MODIFIER | c.204+18729_204+1873 others(6): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17558189 | ||||||
| chr17:17558189
|
A | AACAC | 13 | a0001c0001t0001g0107a0001c0001t0001g0110a0001c0001t0001g0111others(10): Show | 13 | HG00673.hp2 HG01099.hp1 HG02071.hp1 others(10): Show |
intron_variant | MODIFIER | c.204+18727_204+1873 others(8): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17558189 | ||||||
| chr17:17558508
|
CA | C | 186 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(183): Show | 192 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(189): Show |
intron_variant | MODIFIER | c.204+18411delT | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17558508 | ||||||
| chr17:17558514
|
A | C | 77 | a0001c0001t0001g0069a0001c0001t0001g0093a0001c0001t0001g0094others(74): Show | 77 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(74): Show |
intron_variant | MODIFIER | c.204+18406T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17558514 | ||||||
| chr17:17558681
|
C | T | 2 | a0001c0001t0001g0082a0001c0001t0001g0088 | 2 | HG03139.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.204+18239G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17558681 | ||||||
| chr17:17558682
|
G | A | 4 | a0001c0001t0001g0069a0001c0001t0001g0072a0001c0001t0001g0073others(1): Show | 4 | HG02083.hp1 HG02451.hp2 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.204+18238C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17558682 | ||||||
| chr17:17558682
|
G | GA | 82 | a0001c0001t0001g0082a0001c0001t0001g0088a0001c0001t0001g0102others(79): Show | 83 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(80): Show |
intron_variant | MODIFIER | c.204+18237dupT | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17558682 | ||||||
| chr17:17558682
|
G | GAA | 19 | a0001c0001t0001g0120a0001c0001t0001g0149a0001c0001t0001g0151others(16): Show | 19 | HG01358.hp1 HG01891.hp1 HG02258.hp1 others(16): Show |
intron_variant | MODIFIER | c.204+18236_204+1823 others(6): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17558682 | ||||||
| chr17:17558682
|
GA | G | 41 | a0001c0001t0001g0209a0001c0001t0001g0218a0001c0001t0001g0220others(38): Show | 41 | HG00140.hp2 HG00280.hp1 HG01070.hp1 others(38): Show |
intron_variant | MODIFIER | c.204+18237delT | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17558682 | ||||||
| chr17:17558695
|
A | C | 1 | a0003c0003t0001g0059 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.204+18225T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17558695 | ||||||
| chr17:17558700
|
C | A | 1 | a0002c0002t0001g0313 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.204+18220G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17558700 | ||||||
| chr17:17558700
|
CAAAA | C | 64 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(61): Show | 69 | HG00280.hp2 HG00323.hp2 HG00408.hp2 others(66): Show |
intron_variant | MODIFIER | c.204+18216_204+1821 others(8): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17558700 | ||||||
| chr17:17558704
|
A | C | 6 | a0003c0003t0001g0017a0003c0003t0001g0032a0003c0003t0001g0035others(3): Show | 6 | HG02145.hp2 HG04184.hp1 HG04228.hp2 others(3): Show |
intron_variant | MODIFIER | c.204+18216T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17558704 | ||||||
| chr17:17558790
|
T | C | 3 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0092 | 3 | HG02451.hp2 HG02615.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.204+18130A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17558790 | ||||||
| chr17:17558790
|
T | G | 1 | a0001c0001t0001g0340 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.204+18130A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17558790 | ||||||
| chr17:17558834
|
G | T | 27 | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0001g0095others(24): Show | 27 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(24): Show |
intron_variant | MODIFIER | c.204+18086C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17558834 | ||||||
| chr17:17558835
|
C | A | 33 | a0001c0001t0001g0118a0001c0001t0001g0119a0001c0001t0001g0122others(30): Show | 33 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(30): Show |
intron_variant | MODIFIER | c.204+18085G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17558835 | ||||||
| chr17:17558871
|
G | C | 1 | a0001c0001t0001g0014 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.204+18049C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17558871 | ||||||
| chr17:17558875
|
A | G | 1 | a0002c0002t0001g0342 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.204+18045T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17558875 | ||||||
| chr17:17558895
|
T | G | 27 | a0001c0001t0001g0069a0001c0001t0001g0151a0001c0001t0001g0155others(24): Show | 27 | HG00544.hp2 HG01884.hp1 HG02040.hp1 others(24): Show |
intron_variant | MODIFIER | c.204+18025A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17558895 | ||||||
| chr17:17558977
|
C | T | 1 | a0001c0001t0001g0340 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.204+17943G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17558977 | ||||||
| chr17:17559072
|
C | T | 1 | a0001c0001t0001g0165 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.204+17848G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17559072 | ||||||
| chr17:17559192
|
T | C | 47 | a0001c0001t0001g0118a0001c0001t0001g0119a0001c0001t0001g0122others(44): Show | 47 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(44): Show |
intron_variant | MODIFIER | c.204+17728A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17559192 | ||||||
| chr17:17559259
|
G | C | 3 | a0001c0001t0001g0222a0001c0001t0001g0225a0002c0002t0001g0219 | 3 | HG02015.hp2 HG03834.hp1 NA18747.hp1 |
intron_variant | MODIFIER | c.204+17661C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17559259 | ||||||
| chr17:17559306
|
G | A | 193 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(190): Show | 198 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(195): Show |
intron_variant | MODIFIER | c.204+17614C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17559306 | ||||||
| chr17:17559316
|
C | G | 36 | a0001c0001t0001g0118a0001c0001t0001g0119a0001c0001t0001g0122others(33): Show | 36 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(33): Show |
intron_variant | MODIFIER | c.204+17604G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17559316 | ||||||
| chr17:17559361
|
G | A | 3 | a0001c0001t0001g0096a0001c0001t0001g0098a0001c0001t0001g0099 | 3 | NA18939.hp2 NA18959.hp1 NA18961.hp1 |
intron_variant | MODIFIER | c.204+17559C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17559361 | ||||||
| chr17:17559378
|
G | A | 15 | a0001c0001t0001g0016a0001c0001t0001g0105a0001c0001t0001g0178others(12): Show | 15 | HG00438.hp2 HG00741.hp1 HG02083.hp2 others(12): Show |
intron_variant | MODIFIER | c.204+17542C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17559378 | ||||||
| chr17:17559448
|
C | T | 20 | a0001c0001t0001g0120a0001c0001t0001g0121a0001c0001t0001g0157others(17): Show | 21 | HG01069.hp1 HG01071.hp1 HG01099.hp2 others(18): Show |
intron_variant | MODIFIER | c.204+17472G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17559448 | ||||||
| chr17:17559463
|
G | A | 6 | a0001c0001t0001g0074a0001c0001t0001g0079a0001c0001t0001g0089others(3): Show | 6 | HG02559.hp2 HG02572.hp1 HG03471.hp1 others(3): Show |
intron_variant | MODIFIER | c.204+17457C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17559463 | ||||||
| chr17:17559576
|
G | A | 1 | a0001c0001t0001g0316 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.204+17344C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17559576 | ||||||
| chr17:17559884
|
G | A | 3 | a0001c0001t0001g0321a0002c0002t0001g0324a0007c0011t0001g0326 | 3 | HG01255.hp2 HG01928.hp1 HG02293.hp1 |
intron_variant | MODIFIER | c.204+17036C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17559884 | ||||||
| chr17:17559886
|
C | A | 11 | a0001c0001t0002g0075a0001c0001t0002g0325a0001c0001t0003g0005others(8): Show | 11 | HG01358.hp1 HG01891.hp1 HG02055.hp1 others(8): Show |
intron_variant | MODIFIER | c.204+17034G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17559886 | ||||||
| chr17:17560020
|
C | T | 2 | a0001c0001t0001g0041a0001c0001t0001g0061 | 2 | HG02698.hp2 HG03688.hp2 |
intron_variant | MODIFIER | c.204+16900G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17560020 | ||||||
| chr17:17560021
|
A | G | 153 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(150): Show | 158 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(155): Show |
intron_variant | MODIFIER | c.204+16899T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17560021 | ||||||
| chr17:17560050
|
G | C | 1 | a0001c0001t0001g0091 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.204+16870C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17560050 | ||||||
| chr17:17560078
|
T | C | 1 | a0001c0001t0001g0091 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.204+16842A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17560078 | ||||||
| chr17:17560105
|
C | A | 33 | a0001c0001t0001g0118a0001c0001t0001g0119a0001c0001t0001g0122others(30): Show | 33 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(30): Show |
intron_variant | MODIFIER | c.204+16815G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17560105 | ||||||
| chr17:17560115
|
T | G | 9 | a0001c0001t0001g0120a0001c0001t0001g0121a0001c0001t0001g0157others(6): Show | 9 | HG01433.hp1 HG01891.hp2 HG02145.hp1 others(6): Show |
intron_variant | MODIFIER | c.204+16805A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17560115 | ||||||
| chr17:17560166
|
G | C | 27 | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0001g0095others(24): Show | 27 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(24): Show |
intron_variant | MODIFIER | c.204+16754C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17560166 | ||||||
| chr17:17560470
|
G | A | 22 | a0001c0001t0001g0120a0001c0001t0001g0121a0001c0001t0001g0157others(19): Show | 23 | HG01069.hp1 HG01071.hp1 HG01099.hp2 others(20): Show |
intron_variant | MODIFIER | c.204+16450C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17560470 | ||||||
| chr17:17560485
|
C | G | 210 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(207): Show | 216 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(213): Show |
intron_variant | MODIFIER | c.204+16435G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17560485 | ||||||
| chr17:17560512
|
G | A | 1 | a0001c0001t0001g0092 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.204+16408C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17560512 | ||||||
| chr17:17560570
|
G | A | 27 | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0001g0095others(24): Show | 27 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(24): Show |
intron_variant | MODIFIER | c.204+16350C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17560570 | ||||||
| chr17:17560716
|
G | A | 2 | a0001c0001t0001g0165a0001c0001t0001g0191 | 2 | HG01884.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.204+16204C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17560716 | ||||||
| chr17:17560763
|
A | G | 21 | a0001c0001t0001g0045a0001c0001t0001g0049a0003c0003t0001g0001others(18): Show | 24 | HG00323.hp2 HG00639.hp2 HG01081.hp1 others(21): Show |
intron_variant | MODIFIER | c.204+16157T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17560763 | ||||||
| chr17:17560822
|
G | A | 1 | a0001c0001t0001g0184 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.204+16098C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17560822 | ||||||
| chr17:17560864
|
C | T | 2 | a0009c0013t0001g0055a0010c0014t0001g0048 | 2 | HG01358.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.204+16056G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17560864 | ||||||
| chr17:17560917
|
C | T | 4 | a0001c0001t0001g0045a0001c0001t0001g0049a0003c0003t0001g0023others(1): Show | 4 | HG01106.hp1 HG01257.hp1 HG01258.hp1 others(1): Show |
intron_variant | MODIFIER | c.204+16003G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17560917 | ||||||
| chr17:17561072
|
C | T | 3 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0092 | 3 | HG02451.hp2 HG02615.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.204+15848G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17561072 | ||||||
| chr17:17561091
|
A | C | 1 | a0002c0002t0001g0238 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.204+15829T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17561091 | ||||||
| chr17:17561155
|
G | A | 1 | a0001c0001t0001g0291 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.204+15765C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17561155 | ||||||
| chr17:17561507
|
C | T | 1 | a0001c0001t0001g0070 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.204+15413G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17561507 | ||||||
| chr17:17561514
|
G | A | 120 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(117): Show | 125 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(122): Show |
intron_variant | MODIFIER | c.204+15406C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17561514 | ||||||
| chr17:17561528
|
G | A | 2 | a0001c0001t0001g0164a0001c0001t0001g0170 | 2 | NA18943.hp2 NA18969.hp2 |
intron_variant | MODIFIER | c.204+15392C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17561528 | ||||||
| chr17:17561539
|
C | T | 1 | a0001c0001t0001g0170 | 1 | NA18943.hp2 | intron_variant | MODIFIER | c.204+15381G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17561539 | ||||||
| chr17:17561678
|
A | G | 3 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0092 | 3 | HG02451.hp2 HG02615.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.204+15242T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17561678 | ||||||
| chr17:17561705
|
C | T | 3 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0092 | 3 | HG02451.hp2 HG02615.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.204+15215G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17561705 | ||||||
| chr17:17561874
|
A | G | 1 | a0001c0001t0001g0152 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.204+15046T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17561874 | ||||||
| chr17:17561894
|
C | G | 1 | a0003c0004t0001g0109 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.204+15026G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17561894 | ||||||
| chr17:17561966
|
C | T | 42 | a0001c0001t0001g0215a0001c0001t0001g0218a0001c0001t0001g0220others(39): Show | 42 | HG00140.hp2 HG00280.hp1 HG01070.hp1 others(39): Show |
intron_variant | MODIFIER | c.204+14954G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17561966 | ||||||
| chr17:17561998
|
C | T | 5 | a0001c0001t0003g0005a0005c0006t0001g0009a0005c0006t0001g0010others(2): Show | 5 | HG02258.hp1 HG02486.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.204+14922G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17561998 | ||||||
| chr17:17562109
|
T | G | 20 | a0001c0001t0001g0120a0001c0001t0001g0121a0001c0001t0001g0157others(17): Show | 21 | HG01069.hp1 HG01071.hp1 HG01099.hp2 others(18): Show |
intron_variant | MODIFIER | c.204+14811A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17562109 | ||||||
| chr17:17562144
|
G | A | 116 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(113): Show | 121 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(118): Show |
intron_variant | MODIFIER | c.204+14776C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17562144 | ||||||
| chr17:17562240
|
C | T | 31 | a0001c0001t0001g0120a0001c0001t0001g0121a0001c0001t0001g0157others(28): Show | 32 | HG01069.hp1 HG01071.hp1 HG01099.hp2 others(29): Show |
intron_variant | MODIFIER | c.204+14680G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17562240 | ||||||
| chr17:17562257
|
A | G | 1 | a0004c0005t0001g0046 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.204+14663T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17562257 | ||||||
| chr17:17562369
|
G | A | 1 | a0001c0001t0001g0078 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.204+14551C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17562369 | ||||||
| chr17:17562503
|
G | A | 2 | a0001c0001t0001g0082a0001c0001t0001g0088 | 2 | HG03139.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.204+14417C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17562503 | ||||||
| chr17:17562651
|
T | C | 2 | a0002c0002t0001g0201a0002c0002t0001g0203 | 2 | HG02970.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.204+14269A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17562651 | ||||||
| chr17:17562660
|
T | G | 2 | a0001c0001t0001g0113a0001c0001t0001g0114 | 2 | HG00673.hp2 NA18984.hp2 |
intron_variant | MODIFIER | c.204+14260A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17562660 | ||||||
| chr17:17562684
|
T | C | 214 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(211): Show | 220 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(217): Show |
intron_variant | MODIFIER | c.204+14236A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17562684 | ||||||
| chr17:17562685
|
G | A | 3 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0092 | 3 | HG02451.hp2 HG02615.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.204+14235C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17562685 | ||||||
| chr17:17562738
|
G | A | 33 | a0001c0001t0001g0118a0001c0001t0001g0119a0001c0001t0001g0122others(30): Show | 33 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(30): Show |
intron_variant | MODIFIER | c.204+14182C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17562738 | ||||||
| chr17:17562833
|
C | T | 1 | a0002c0002t0001g0124 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.204+14087G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17562833 | ||||||
| chr17:17562880
|
C | T | 1 | a0003c0003t0001g0051 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.204+14040G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17562880 | ||||||
| chr17:17562954
|
CA | C | 34 | a0001c0001t0001g0118a0001c0001t0001g0119a0001c0001t0001g0122others(31): Show | 34 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(31): Show |
intron_variant | MODIFIER | c.204+13965delT | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17562954 | ||||||
| chr17:17563100
|
T | C | 27 | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0001g0095others(24): Show | 27 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(24): Show |
intron_variant | MODIFIER | c.204+13820A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17563100 | ||||||
| chr17:17563173
|
T | C | 1 | a0003c0003t0001g0051 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.204+13747A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17563173 | ||||||
| chr17:17563258
|
C | A | 33 | a0001c0001t0001g0118a0001c0001t0001g0119a0001c0001t0001g0122others(30): Show | 33 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(30): Show |
intron_variant | MODIFIER | c.204+13662G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17563258 | ||||||
| chr17:17563423
|
A | G | 60 | a0001c0001t0001g0069a0001c0001t0001g0120a0001c0001t0001g0121others(57): Show | 61 | HG00544.hp2 HG01069.hp1 HG01071.hp1 others(58): Show |
intron_variant | MODIFIER | c.204+13497T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17563423 | ||||||
| chr17:17563603
|
G | A | 1 | a0002c0002t0001g0226 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.204+13317C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17563603 | ||||||
| chr17:17563677
|
A | G | 214 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(211): Show | 220 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(217): Show |
intron_variant | MODIFIER | c.204+13243T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17563677 | ||||||
| chr17:17563697
|
C | T | 1 | a0001c0001t0001g0340 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.204+13223G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17563697 | ||||||
| chr17:17563703
|
T | C | 57 | a0001c0001t0001g0069a0001c0001t0001g0120a0001c0001t0001g0121others(54): Show | 58 | HG00544.hp2 HG01069.hp1 HG01071.hp1 others(55): Show |
intron_variant | MODIFIER | c.204+13217A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17563703 | ||||||
| chr17:17563730
|
G | A | 1 | a0002c0002t0001g0018 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.204+13190C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17563730 | ||||||
| chr17:17563740
|
C | T | 1 | a0001c0001t0001g0152 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.204+13180G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17563740 | ||||||
| chr17:17563783
|
A | C | 1 | a0006c0008t0001g0013 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.204+13137T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17563783 | ||||||
| chr17:17563834
|
C | A | 1 | a0001c0001t0001g0334 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.204+13086G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17563834 | ||||||
| chr17:17563968
|
G | C | 58 | a0001c0001t0001g0069a0001c0001t0001g0120a0001c0001t0001g0121others(55): Show | 59 | HG00544.hp2 HG01069.hp1 HG01071.hp1 others(56): Show |
intron_variant | MODIFIER | c.204+12952C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17563968 | ||||||
| chr17:17564043
|
CT | C | 89 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(86): Show | 94 | HG00280.hp2 HG00323.hp2 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.204+12876delA | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17564043 | ||||||
| chr17:17564144
|
C | T | 1 | a0001c0001t0001g0340 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.204+12776G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17564144 | ||||||
| chr17:17564166
|
C | T | 27 | a0001c0001t0001g0069a0001c0001t0001g0151a0001c0001t0001g0155others(24): Show | 27 | HG00544.hp2 HG01884.hp1 HG02040.hp1 others(24): Show |
intron_variant | MODIFIER | c.204+12754G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17564166 | ||||||
| chr17:17564187
|
G | A | 117 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(114): Show | 122 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(119): Show |
intron_variant | MODIFIER | c.204+12733C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17564187 | ||||||
| chr17:17564194
|
C | A | 1 | a0002c0012t0001g0292 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.204+12726G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17564194 | ||||||
| chr17:17564195
|
G | A | 1 | a0001c0001t0001g0282 | 1 | NA19064.hp1 | intron_variant | MODIFIER | c.204+12725C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17564195 | ||||||
| chr17:17564312
|
G | C | 1 | a0002c0002t0001g0342 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.204+12608C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17564312 | ||||||
| chr17:17564373
|
G | GC | 120 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(117): Show | 125 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(122): Show |
intron_variant | MODIFIER | c.204+12546dupG | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17564373 | ||||||
| chr17:17564469
|
C | T | 120 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(117): Show | 125 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(122): Show |
intron_variant | MODIFIER | c.204+12451G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17564469 | ||||||
| chr17:17564654
|
C | T | 58 | a0001c0001t0001g0069a0001c0001t0001g0120a0001c0001t0001g0121others(55): Show | 59 | HG00544.hp2 HG01069.hp1 HG01071.hp1 others(56): Show |
intron_variant | MODIFIER | c.204+12266G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17564654 | ||||||
| chr17:17564717
|
G | A | 1 | a0003c0004t0001g0109 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.204+12203C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17564717 | ||||||
| chr17:17564827
|
C | G | 58 | a0001c0001t0001g0069a0001c0001t0001g0120a0001c0001t0001g0121others(55): Show | 59 | HG00544.hp2 HG01069.hp1 HG01071.hp1 others(56): Show |
intron_variant | MODIFIER | c.204+12093G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17564827 | ||||||
| chr17:17565107
|
G | A | 1 | a0001c0001t0001g0100 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.204+11813C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17565107 | ||||||
| chr17:17565327
|
C | G | 58 | a0001c0001t0001g0069a0001c0001t0001g0120a0001c0001t0001g0121others(55): Show | 59 | HG00544.hp2 HG01069.hp1 HG01071.hp1 others(56): Show |
intron_variant | MODIFIER | c.204+11593G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17565327 | ||||||
| chr17:17565550
|
G | A | 1 | a0009c0013t0001g0055 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.204+11370C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17565550 | ||||||
| chr17:17565568
|
G | T | 5 | a0001c0001t0003g0005a0005c0006t0001g0009a0005c0006t0001g0010others(2): Show | 5 | HG02258.hp1 HG02486.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.204+11352C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17565568 | ||||||
| chr17:17565732
|
C | T | 2 | a0001c0001t0001g0248a0001c0001t0001g0256 | 2 | HG02886.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.204+11188G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17565732 | ||||||
| chr17:17566005
|
C | G | 58 | a0001c0001t0001g0069a0001c0001t0001g0120a0001c0001t0001g0121others(55): Show | 59 | HG00544.hp2 HG01069.hp1 HG01071.hp1 others(56): Show |
intron_variant | MODIFIER | c.204+10915G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17566005 | ||||||
| chr17:17566141
|
C | T | 57 | a0001c0001t0001g0069a0001c0001t0001g0120a0001c0001t0001g0121others(54): Show | 58 | HG00544.hp2 HG01069.hp1 HG01071.hp1 others(55): Show |
intron_variant | MODIFIER | c.204+10779G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17566141 | ||||||
| chr17:17566162
|
G | A | 1 | a0001c0001t0001g0280 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.204+10758C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17566162 | ||||||
| chr17:17566185
|
G | A | 1 | a0001c0001t0001g0174 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.204+10735C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17566185 | ||||||
| chr17:17566604
|
C | T | 21 | a0001c0001t0001g0122a0002c0002t0001g0116a0002c0002t0001g0117others(18): Show | 21 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(18): Show |
intron_variant | MODIFIER | c.204+10316G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17566604 | ||||||
| chr17:17566754
|
G | C | 4 | a0001c0001t0001g0271a0001c0001t0001g0273a0002c0002t0001g0272others(1): Show | 4 | HG01106.hp2 HG01496.hp1 HG01928.hp2 others(1): Show |
intron_variant | MODIFIER | c.204+10166C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17566754 | ||||||
| chr17:17566786
|
G | A | 1 | a0002c0002t0001g0190 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.204+10134C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17566786 | ||||||
| chr17:17566790
|
C | T | 20 | a0001c0001t0001g0120a0001c0001t0001g0121a0001c0001t0001g0157others(17): Show | 21 | HG01069.hp1 HG01071.hp1 HG01099.hp2 others(18): Show |
intron_variant | MODIFIER | c.204+10130G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17566790 | ||||||
| chr17:17566990
|
C | A | 3 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0092 | 3 | HG02451.hp2 HG02615.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.204+9930G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17566990 | ||||||
| chr17:17567058
|
T | C | 3 | a0001c0001t0001g0222a0001c0001t0001g0225a0002c0002t0001g0219 | 3 | HG02015.hp2 HG03834.hp1 NA18747.hp1 |
intron_variant | MODIFIER | c.204+9862A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17567058 | ||||||
| chr17:17567089
|
G | C | 3 | a0001c0001t0001g0222a0001c0001t0001g0225a0002c0002t0001g0219 | 3 | HG02015.hp2 HG03834.hp1 NA18747.hp1 |
intron_variant | MODIFIER | c.204+9831C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17567089 | ||||||
| chr17:17567185
|
C | T | 3 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0092 | 3 | HG02451.hp2 HG02615.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.204+9735G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17567185 | ||||||
| chr17:17567212
|
C | T | 36 | a0001c0001t0001g0118a0001c0001t0001g0119a0001c0001t0001g0122others(33): Show | 36 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(33): Show |
intron_variant | MODIFIER | c.204+9708G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17567212 | ||||||
| chr17:17567290
|
C | T | 20 | a0001c0001t0001g0120a0001c0001t0001g0121a0001c0001t0001g0157others(17): Show | 21 | HG01069.hp1 HG01071.hp1 HG01099.hp2 others(18): Show |
intron_variant | MODIFIER | c.204+9630G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17567290 | ||||||
| chr17:17567295
|
C | T | 120 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(117): Show | 125 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(122): Show |
intron_variant | MODIFIER | c.204+9625G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17567295 | ||||||
| chr17:17567380
|
A | C | 1 | a0001c0001t0001g0152 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.204+9540T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17567380 | ||||||
| chr17:17567394
|
A | G | 120 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(117): Show | 125 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(122): Show |
intron_variant | MODIFIER | c.204+9526T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17567394 | ||||||
| chr17:17567405
|
T | C | 214 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(211): Show | 220 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(217): Show |
intron_variant | MODIFIER | c.204+9515A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17567405 | ||||||
| chr17:17567586
|
C | G | 1 | a0001c0001t0001g0340 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.204+9334G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17567586 | ||||||
| chr17:17567685
|
G | C | 3 | a0001c0001t0002g0075a0001c0001t0002g0325a0005c0006t0002g0006 | 3 | HG02055.hp1 HG03516.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.204+9235C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17567685 | ||||||
| chr17:17567830
|
G | A | 5 | a0001c0001t0001g0216a0001c0001t0001g0233a0001c0001t0001g0248others(2): Show | 5 | HG01192.hp1 HG02717.hp1 HG02809.hp1 others(2): Show |
intron_variant | MODIFIER | c.204+9090C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17567830 | ||||||
| chr17:17567861
|
G | A | 117 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(114): Show | 122 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(119): Show |
intron_variant | MODIFIER | c.204+9059C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17567861 | ||||||
| chr17:17567888
|
C | T | 2 | a0002c0002t0001g0158a0002c0002t0001g0194 | 2 | HG03831.hp2 NA18973.hp2 |
intron_variant | MODIFIER | c.204+9032G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17567888 | ||||||
| chr17:17567922
|
C | A | 1 | a0001c0001t0003g0005 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.204+8998G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17567922 | ||||||
| chr17:17567970
|
T | A | 1 | a0001c0001t0001g0119 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.204+8950A>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17567970 | ||||||
| chr17:17568059
|
C | A | 214 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(211): Show | 220 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(217): Show |
intron_variant | MODIFIER | c.204+8861G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17568059 | ||||||
| chr17:17568060
|
T | TAC | 35 | a0001c0001t0001g0118a0001c0001t0001g0119a0001c0001t0001g0122others(32): Show | 35 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(32): Show |
intron_variant | MODIFIER | c.204+8858_204+8859d others(4): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17568060 | ||||||
| chr17:17568460
|
C | T | 2 | a0002c0002t0001g0137a0002c0002t0001g0140 | 2 | HG02258.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.204+8460G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17568460 | ||||||
| chr17:17568607
|
G | A | 27 | a0001c0001t0001g0069a0001c0001t0001g0151a0001c0001t0001g0155others(24): Show | 27 | HG00544.hp2 HG01884.hp1 HG02040.hp1 others(24): Show |
intron_variant | MODIFIER | c.204+8313C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17568607 | ||||||
| chr17:17568683
|
G | A | 3 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0092 | 3 | HG02451.hp2 HG02615.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.204+8237C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17568683 | ||||||
| chr17:17568762
|
G | A | 20 | a0001c0001t0001g0120a0001c0001t0001g0121a0001c0001t0001g0157others(17): Show | 21 | HG01069.hp1 HG01071.hp1 HG01099.hp2 others(18): Show |
intron_variant | MODIFIER | c.204+8158C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17568762 | ||||||
| chr17:17568861
|
G | A | 1 | a0001c0001t0001g0047 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.204+8059C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17568861 | ||||||
| chr17:17569133
|
C | A | 5 | a0001c0001t0001g0074a0001c0001t0001g0079a0001c0001t0001g0089others(2): Show | 5 | HG02559.hp2 HG02572.hp1 HG03471.hp1 others(2): Show |
intron_variant | MODIFIER | c.204+7787G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17569133 | ||||||
| chr17:17569196
|
C | G | 2 | a0001c0001t0001g0102a0008c0010t0001g0200 | 2 | HG02738.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.204+7724G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17569196 | ||||||
| chr17:17569204
|
G | A | 1 | a0001c0001t0001g0209 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.204+7716C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17569204 | ||||||
| chr17:17569224
|
G | A | 1 | a0001c0001t0001g0152 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.204+7696C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17569224 | ||||||
| chr17:17569255
|
G | A | 1 | a0001c0001t0001g0340 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.204+7665C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17569255 | ||||||
| chr17:17569299
|
T | C | 214 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(211): Show | 220 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(217): Show |
intron_variant | MODIFIER | c.204+7621A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17569299 | ||||||
| chr17:17569462
|
C | T | 2 | a0003c0004t0001g0040a0003c0004t0001g0054 | 2 | HG01192.hp2 NA20805.hp1 |
intron_variant | MODIFIER | c.204+7458G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17569462 | ||||||
| chr17:17569579
|
G | A | 27 | a0001c0001t0001g0069a0001c0001t0001g0151a0001c0001t0001g0155others(24): Show | 27 | HG00544.hp2 HG01884.hp1 HG02040.hp1 others(24): Show |
intron_variant | MODIFIER | c.204+7341C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17569579 | ||||||
| chr17:17569608
|
T | G | 1 | a0001c0001t0001g0340 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.204+7312A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17569608 | ||||||
| chr17:17569698
|
T | C | 3 | a0001c0001t0001g0096a0001c0001t0001g0098a0001c0001t0001g0099 | 3 | NA18939.hp2 NA18959.hp1 NA18961.hp1 |
intron_variant | MODIFIER | c.204+7222A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17569698 | ||||||
| chr17:17569700
|
C | T | 16 | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0001g0095others(13): Show | 16 | HG00099.hp1 HG00423.hp2 HG01952.hp2 others(13): Show |
intron_variant | MODIFIER | c.204+7220G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17569700 | ||||||
| chr17:17569891
|
G | A | 1 | a0001c0001t0001g0097 | 1 | NA19074.hp2 | intron_variant | MODIFIER | c.204+7029C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17569891 | ||||||
| chr17:17570109
|
G | A | 1 | a0001c0001t0001g0189 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.204+6811C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17570109 | ||||||
| chr17:17570232
|
T | C | 1 | a0002c0002t0001g0160 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.204+6688A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17570232 | ||||||
| chr17:17570539
|
C | T | 117 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(114): Show | 122 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(119): Show |
intron_variant | MODIFIER | c.204+6381G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17570539 | ||||||
| chr17:17570815
|
C | T | 2 | a0001c0001t0002g0075a0002c0012t0001g0292 | 2 | HG02074.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.204+6105G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17570815 | ||||||
| chr17:17570829
|
C | T | 214 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(211): Show | 220 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(217): Show |
intron_variant | MODIFIER | c.204+6091G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17570829 | ||||||
| chr17:17570840
|
A | G | 214 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(211): Show | 220 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(217): Show |
intron_variant | MODIFIER | c.204+6080T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17570840 | ||||||
| chr17:17570890
|
C | G | 156 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(153): Show | 161 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(158): Show |
intron_variant | MODIFIER | c.204+6030G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17570890 | ||||||
| chr17:17570921
|
G | C | 1 | a0001c0001t0001g0151 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.204+5999C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17570921 | ||||||
| chr17:17570993
|
G | A | 27 | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0001g0095others(24): Show | 27 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(24): Show |
intron_variant | MODIFIER | c.204+5927C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17570993 | ||||||
| chr17:17571023
|
T | C | 2 | a0002c0002t0001g0201a0002c0002t0001g0203 | 2 | HG02970.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.204+5897A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17571023 | ||||||
| chr17:17571164
|
G | A | 1 | a0001c0001t0001g0102 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.204+5756C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17571164 | ||||||
| chr17:17571390
|
A | G | 1 | a0001c0001t0001g0151 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.204+5530T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17571390 | ||||||
| chr17:17571522
|
G | A | 14 | a0001c0001t0001g0016a0001c0001t0001g0105a0001c0001t0001g0178others(11): Show | 14 | HG00438.hp2 HG00741.hp1 HG02083.hp2 others(11): Show |
intron_variant | MODIFIER | c.204+5398C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17571522 | ||||||
| chr17:17571711
|
G | GT | 131 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(128): Show | 136 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(133): Show |
intron_variant | MODIFIER | c.204+5208dupA | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17571711 | ||||||
| chr17:17571711
|
G | GTT | 30 | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0001g0095others(27): Show | 30 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(27): Show |
intron_variant | MODIFIER | c.204+5207_204+5208d others(4): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17571711 | ||||||
| chr17:17571720
|
T | C | 3 | a0001c0001t0001g0156a0001c0001t0001g0161a0001c0001t0001g0168 | 3 | NA18946.hp1 NA18950.hp1 NA19068.hp2 |
intron_variant | MODIFIER | c.204+5200A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17571720 | ||||||
| chr17:17571793
|
C | T | 58 | a0001c0001t0001g0069a0001c0001t0001g0120a0001c0001t0001g0121others(55): Show | 59 | HG00544.hp2 HG01069.hp1 HG01071.hp1 others(56): Show |
intron_variant | MODIFIER | c.204+5127G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17571793 | ||||||
| chr17:17571798
|
C | G | 1 | a0002c0002t0001g0117 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.204+5122G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17571798 | ||||||
| chr17:17572036
|
T | G | 117 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(114): Show | 122 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(119): Show |
intron_variant | MODIFIER | c.204+4884A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17572036 | ||||||
| chr17:17572154
|
A | G | 156 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(153): Show | 161 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(158): Show |
intron_variant | MODIFIER | c.204+4766T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17572154 | ||||||
| chr17:17572253
|
T | C | 214 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(211): Show | 220 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(217): Show |
intron_variant | MODIFIER | c.204+4667A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17572253 | ||||||
| chr17:17572397
|
C | T | 1 | a0002c0002t0001g0272 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.204+4523G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17572397 | ||||||
| chr17:17572458
|
G | A | 1 | a0002c0002t0001g0148 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.204+4462C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17572458 | ||||||
| chr17:17572540
|
C | T | 1 | a0002c0002t0001g0153 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.204+4380G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17572540 | ||||||
| chr17:17572566
|
A | G | 58 | a0001c0001t0001g0069a0001c0001t0001g0120a0001c0001t0001g0121others(55): Show | 59 | HG00544.hp2 HG01069.hp1 HG01071.hp1 others(56): Show |
intron_variant | MODIFIER | c.204+4354T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17572566 | ||||||
| chr17:17572584
|
G | A | 1 | a0001c0001t0001g0169 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.204+4336C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17572584 | ||||||
| chr17:17572707
|
G | A | 211 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(208): Show | 217 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(214): Show |
intron_variant | MODIFIER | c.204+4213C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17572707 | ||||||
| chr17:17572717
|
T | A | 58 | a0001c0001t0001g0069a0001c0001t0001g0120a0001c0001t0001g0121others(55): Show | 59 | HG00544.hp2 HG01069.hp1 HG01071.hp1 others(56): Show |
intron_variant | MODIFIER | c.204+4203A>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17572717 | ||||||
| chr17:17572927
|
G | A | 1 | a0002c0002t0001g0125 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.204+3993C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17572927 | ||||||
| chr17:17572958
|
G | A | 1 | a0001c0001t0001g0169 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.204+3962C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17572958 | ||||||
| chr17:17573001
|
C | T | 1 | a0001c0001t0001g0097 | 1 | NA19074.hp2 | intron_variant | MODIFIER | c.204+3919G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17573001 | ||||||
| chr17:17573031
|
A | G | 20 | a0001c0001t0001g0120a0001c0001t0001g0121a0001c0001t0001g0157others(17): Show | 21 | HG01069.hp1 HG01071.hp1 HG01099.hp2 others(18): Show |
intron_variant | MODIFIER | c.204+3889T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17573031 | ||||||
| chr17:17573066
|
G | A | 89 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(86): Show | 94 | HG00280.hp2 HG00323.hp2 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.204+3854C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17573066 | ||||||
| chr17:17573108
|
G | C | 1 | a0001c0001t0001g0102 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.204+3812C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17573108 | ||||||
| chr17:17573153
|
C | T | 2 | a0001c0001t0001g0164a0001c0001t0001g0170 | 2 | NA18943.hp2 NA18969.hp2 |
intron_variant | MODIFIER | c.204+3767G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17573153 | ||||||
| chr17:17573251
|
G | A | 1 | a0002c0002t0001g0226 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.204+3669C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17573251 | ||||||
| chr17:17573273
|
T | C | 1 | a0002c0002t0001g0274 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.204+3647A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17573273 | ||||||
| chr17:17573344
|
G | A | 1 | a0001c0001t0001g0291 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.204+3576C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17573344 | ||||||
| chr17:17573404
|
T | C | 1 | a0001c0001t0001g0188 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.204+3516A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17573404 | ||||||
| chr17:17573466
|
C | CA | 7 | a0001c0001t0001g0047a0001c0001t0001g0072a0001c0001t0001g0073others(4): Show | 7 | HG02004.hp1 HG02451.hp2 HG02615.hp1 others(4): Show |
intron_variant | MODIFIER | c.204+3453dupT | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17573466 | ||||||
| chr17:17573466
|
CA | C | 9 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0068others(6): Show | 9 | HG01169.hp2 HG01256.hp1 HG01517.hp1 others(6): Show |
intron_variant | MODIFIER | c.204+3453delT | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17573466 | ||||||
| chr17:17573477
|
A | G | 36 | a0001c0001t0001g0118a0001c0001t0001g0119a0001c0001t0001g0122others(33): Show | 36 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(33): Show |
intron_variant | MODIFIER | c.204+3443T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17573477 | ||||||
| chr17:17573600
|
T | C | 120 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(117): Show | 125 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(122): Show |
intron_variant | MODIFIER | c.204+3320A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17573600 | ||||||
| chr17:17573602
|
T | G | 1 | a0003c0003t0001g0268 | 1 | NA18939.hp1 | intron_variant | MODIFIER | c.204+3318A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17573602 | ||||||
| chr17:17573622
|
A | C | 1 | a0001c0001t0001g0339 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.204+3298T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17573622 | ||||||
| chr17:17573942
|
C | T | 1 | a0001c0001t0001g0081 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.204+2978G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17573942 | ||||||
| chr17:17574070
|
T | C | 214 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(211): Show | 220 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(217): Show |
intron_variant | MODIFIER | c.204+2850A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17574070 | ||||||
| chr17:17574149
|
A | G | 3 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0092 | 3 | HG02451.hp2 HG02615.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.204+2771T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17574149 | ||||||
| chr17:17574209
|
C | T | 1 | a0002c0002t0001g0272 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.204+2711G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17574209 | ||||||
| chr17:17574211
|
A | G | 1 | a0001c0001t0002g0325 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.204+2709T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17574211 | ||||||
| chr17:17574244
|
C | CA | 59 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0105others(56): Show | 59 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(56): Show |
intron_variant | MODIFIER | c.204+2675dupT | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17574244 | ||||||
| chr17:17574244
|
C | CAA | 8 | a0001c0001t0001g0142a0002c0002t0001g0124a0002c0002t0001g0128others(5): Show | 8 | HG01070.hp2 HG01258.hp2 HG02738.hp2 others(5): Show |
intron_variant | MODIFIER | c.204+2674_204+2675d others(4): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17574244 | ||||||
| chr17:17574244
|
CA | C | 30 | a0001c0001t0001g0069a0001c0001t0001g0151a0001c0001t0001g0155others(27): Show | 30 | HG00544.hp2 HG01884.hp1 HG01891.hp1 others(27): Show |
intron_variant | MODIFIER | c.204+2675delT | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17574244 | ||||||
| chr17:17574253
|
A | C | 2 | a0001c0001t0001g0072a0001c0001t0001g0073 | 2 | HG02451.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.204+2667T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17574253 | ||||||
| chr17:17574265
|
A | AAC | 27 | a0001c0001t0001g0021a0001c0001t0001g0028a0001c0001t0001g0077others(24): Show | 27 | HG00544.hp1 HG01106.hp1 HG01109.hp1 others(24): Show |
intron_variant | MODIFIER | c.204+2654_204+2655i others(4): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17574265 | ||||||
| chr17:17574265
|
A | AC | 73 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0024others(70): Show | 78 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(75): Show |
intron_variant | MODIFIER | c.204+2654dupG | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17574265 | ||||||
| chr17:17574265
|
A | C | 14 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0092others(11): Show | 14 | HG00673.hp2 HG01099.hp1 HG02071.hp1 others(11): Show |
intron_variant | MODIFIER | c.204+2655T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17574265 | ||||||
| chr17:17574315
|
C | CT | 15 | a0001c0001t0001g0028a0001c0001t0001g0041a0001c0001t0001g0291others(12): Show | 15 | HG00323.hp1 HG01433.hp2 HG02165.hp2 others(12): Show |
intron_variant | MODIFIER | c.204+2604dupA | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17574315 | ||||||
| chr17:17574315
|
C | CTT | 31 | a0001c0001t0001g0118a0001c0001t0001g0119a0001c0001t0001g0122others(28): Show | 31 | HG00099.hp2 HG00140.hp1 HG00639.hp1 others(28): Show |
intron_variant | MODIFIER | c.204+2603_204+2604d others(4): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17574315 | ||||||
| chr17:17574315
|
CT | C | 26 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0074others(23): Show | 26 | HG01109.hp1 HG01192.hp2 HG02257.hp2 others(23): Show |
intron_variant | MODIFIER | c.204+2604delA | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17574315 | ||||||
| chr17:17574315
|
CTT | C | 27 | a0001c0001t0001g0091a0001c0001t0001g0093a0001c0001t0001g0095others(24): Show | 27 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(24): Show |
intron_variant | MODIFIER | c.204+2603_204+2604d others(4): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17574315 | ||||||
| chr17:17574336
|
T | A | 1 | a0001c0001t0001g0235 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.204+2584A>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17574336 | ||||||
| chr17:17574438
|
G | C | 1 | a0001c0001t0001g0288 | 1 | NA18997.hp1 | intron_variant | MODIFIER | c.204+2482C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17574438 | ||||||
| chr17:17574439
|
C | G | 1 | a0001c0001t0001g0288 | 1 | NA18997.hp1 | intron_variant | MODIFIER | c.204+2481G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17574439 | ||||||
| chr17:17574533
|
C | T | 120 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(117): Show | 125 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(122): Show |
intron_variant | MODIFIER | c.204+2387G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17574533 | ||||||
| chr17:17574771
|
A | G | 1 | a0001c0001t0001g0115 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.204+2149T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17574771 | ||||||
| chr17:17574868
|
A | G | 3 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0092 | 3 | HG02451.hp2 HG02615.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.204+2052T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17574868 | ||||||
| chr17:17574876
|
C | G | 1 | a0001c0001t0001g0288 | 1 | NA18997.hp1 | intron_variant | MODIFIER | c.204+2044G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17574876 | ||||||
| chr17:17574876
|
C | T | 27 | a0001c0001t0001g0069a0001c0001t0001g0151a0001c0001t0001g0155others(24): Show | 27 | HG00544.hp2 HG01884.hp1 HG02040.hp1 others(24): Show |
intron_variant | MODIFIER | c.204+2044G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17574876 | ||||||
| chr17:17574877
|
G | C | 1 | a0001c0001t0001g0288 | 1 | NA18997.hp1 | intron_variant | MODIFIER | c.204+2043C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17574877 | ||||||
| chr17:17574881
|
G | C | 27 | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0001g0095others(24): Show | 27 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(24): Show |
intron_variant | MODIFIER | c.204+2039C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17574881 | ||||||
| chr17:17575038
|
T | C | 157 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(154): Show | 162 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(159): Show |
intron_variant | MODIFIER | c.204+1882A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17575038 | ||||||
| chr17:17575076
|
C | T | 119 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(116): Show | 124 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(121): Show |
intron_variant | MODIFIER | c.204+1844G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17575076 | ||||||
| chr17:17575119
|
T | A | 16 | a0001c0001t0001g0215a0001c0001t0001g0223a0002c0002t0001g0226others(13): Show | 16 | HG00140.hp2 HG00280.hp1 HG01081.hp2 others(13): Show |
intron_variant | MODIFIER | c.204+1801A>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17575119 | ||||||
| chr17:17575363
|
G | A | 1 | a0001c0001t0001g0110 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.204+1557C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17575363 | ||||||
| chr17:17575419
|
T | C | 2 | a0001c0001t0001g0072a0001c0001t0001g0073 | 2 | HG02451.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.204+1501A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17575419 | ||||||
| chr17:17575461
|
C | A | 89 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(86): Show | 94 | HG00280.hp2 HG00323.hp2 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.204+1459G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17575461 | ||||||
| chr17:17575474
|
C | T | 1 | a0001c0001t0001g0081 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.204+1446G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17575474 | ||||||
| chr17:17575564
|
T | G | 215 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(212): Show | 221 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(218): Show |
intron_variant | MODIFIER | c.204+1356A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17575564 | ||||||
| chr17:17575603
|
C | T | 151 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(148): Show | 156 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(153): Show |
intron_variant | MODIFIER | c.204+1317G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17575603 | ||||||
| chr17:17575621
|
G | A | 28 | a0001c0001t0001g0121a0001c0001t0001g0157a0001c0001t0001g0171others(25): Show | 29 | HG00438.hp1 HG01069.hp1 HG01071.hp1 others(26): Show |
intron_variant | MODIFIER | c.204+1299C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17575621 | ||||||
| chr17:17575714
|
C | T | 12 | a0001c0001t0001g0118a0001c0001t0001g0119a0001c0001t0001g0123others(9): Show | 12 | HG02258.hp2 HG02280.hp2 HG02647.hp1 others(9): Show |
intron_variant | MODIFIER | c.204+1206G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17575714 | ||||||
| chr17:17575970
|
A | T | 1 | a0002c0002t0001g0227 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.204+950T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17575970 | ||||||
| chr17:17576043
|
G | T | 1 | a0002c0002t0001g0226 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.204+877C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17576043 | ||||||
| chr17:17576085
|
CCCCAGGA others(30): Show |
C | 1 | a0001c0001t0001g0156 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.204+798_204+834del others(37): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17576085 | ||||||
| chr17:17576211
|
A | G | 42 | a0001c0001t0001g0074a0001c0001t0001g0077a0001c0001t0001g0078others(39): Show | 42 | HG01109.hp1 HG01433.hp1 HG01891.hp1 others(39): Show |
intron_variant | MODIFIER | c.204+709T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17576211 | ||||||
| chr17:17576321
|
G | GCCCGGGC others(11): Show |
3 | a0002c0002t0001g0127a0002c0002t0001g0128a0002c0002t0001g0131 | 3 | HG02895.hp2 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.204+581_204+598dup others(18): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17576321 | ||||||
| chr17:17576369
|
G | A | 1 | a0001c0001t0001g0278 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.204+551C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17576369 | ||||||
| chr17:17576550
|
A | T | 3 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0092 | 3 | HG02451.hp2 HG02615.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.204+370T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17576550 | ||||||
| chr17:17576557
|
C | A | 4 | a0001c0001t0001g0202a0001c0001t0001g0204a0002c0002t0001g0201others(1): Show | 4 | HG02922.hp2 HG02970.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.204+363G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17576557 | ||||||
| chr17:17576620
|
C | G | 2 | a0001c0001t0001g0082a0001c0001t0001g0088 | 2 | HG03139.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.204+300G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17576620 | ||||||
| chr17:17576706
|
C | G | 3 | a0001c0001t0001g0045a0001c0001t0001g0049a0003c0003t0001g0023 | 3 | HG01106.hp1 HG01257.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.204+214G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17576706 | ||||||
| chr17:17576873
|
A | G | 101 | a0001c0001t0001g0069a0001c0001t0001g0072a0001c0001t0001g0073others(98): Show | 102 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(99): Show |
intron_variant | MODIFIER | c.204+47T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17576873 | ||||||
| chr17:17576881
|
A | G | 211 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(208): Show | 217 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(214): Show |
intron_variant | MODIFIER | c.204+39T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17576881 | ||||||
| chr17:17576912
|
T | C | 1 | a0003c0003t0001g0058 | 1 | HG01346.hp2 | splice_region_variant&intron_variant | LOW | c.204+8A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | 17576912 | ||||||
| chr17:17577148
|
G | A | 2 | a0005c0006t0001g0007a0005c0006t0001g0008 | 2 | HG02572.hp2 HG02818.hp1 |
intron_variant | MODIFIER | c.97-121C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17577148 | ||||||
| chr17:17577160
|
T | C | 33 | a0001c0001t0001g0118a0001c0001t0001g0119a0001c0001t0001g0122others(30): Show | 33 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(30): Show |
intron_variant | MODIFIER | c.97-133A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17577160 | ||||||
| chr17:17577243
|
G | A | 1 | a0001c0001t0001g0111 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.97-216C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17577243 | ||||||
| chr17:17577289
|
C | T | 1 | a0001c0001t0001g0169 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.97-262G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17577289 | ||||||
| chr17:17577368
|
G | T | 1 | a0002c0002t0001g0137 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.97-341C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17577368 | ||||||
| chr17:17577444
|
T | C | 8 | a0001c0001t0001g0122a0002c0002t0001g0116a0002c0002t0001g0127others(5): Show | 8 | HG01070.hp2 HG02630.hp1 HG02895.hp2 others(5): Show |
intron_variant | MODIFIER | c.97-417A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17577444 | ||||||
| chr17:17577523
|
A | G | 6 | a0005c0006t0001g0007a0005c0006t0001g0008a0005c0006t0001g0009others(3): Show | 6 | HG02486.hp2 HG02572.hp2 HG02818.hp1 others(3): Show |
intron_variant | MODIFIER | c.97-496T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17577523 | ||||||
| chr17:17577668
|
G | GA | 16 | a0001c0001t0001g0074a0001c0001t0001g0077a0001c0001t0001g0078others(13): Show | 16 | HG01109.hp1 HG02055.hp2 HG02451.hp1 others(13): Show |
intron_variant | MODIFIER | c.97-642dupT | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17577668 | ||||||
| chr17:17577712
|
T | G | 2 | a0001c0001t0001g0072a0001c0001t0001g0073 | 2 | HG02451.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.97-685A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17577712 | ||||||
| chr17:17577755
|
T | C | 2 | a0009c0013t0001g0055a0010c0014t0001g0048 | 2 | HG01358.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.97-728A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17577755 | ||||||
| chr17:17578003
|
T | C | 115 | a0001c0001t0001g0069a0001c0001t0001g0072a0001c0001t0001g0073others(112): Show | 116 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(113): Show |
intron_variant | MODIFIER | c.97-976A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17578003 | ||||||
| chr17:17578011
|
C | T | 1 | a0003c0003t0001g0310 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.97-984G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17578011 | ||||||
| chr17:17578016
|
C | CA | 10 | a0001c0001t0001g0068a0001c0001t0001g0100a0001c0001t0001g0212others(7): Show | 10 | HG01975.hp2 HG02135.hp1 HG02738.hp1 others(7): Show |
intron_variant | MODIFIER | c.97-990dupT | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17578016 | ||||||
| chr17:17578016
|
CA | C | 49 | a0001c0001t0001g0118a0001c0001t0001g0119a0001c0001t0001g0122others(46): Show | 49 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(46): Show |
intron_variant | MODIFIER | c.97-990delT | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17578016 | ||||||
| chr17:17578039
|
G | A | 1 | a0001c0001t0001g0309 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.97-1012C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17578039 | ||||||
| chr17:17578039
|
G | T | 49 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0118others(46): Show | 49 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(46): Show |
intron_variant | MODIFIER | c.97-1012C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17578039 | ||||||
| chr17:17578344
|
T | C | 2 | a0001c0001t0001g0072a0001c0001t0001g0073 | 2 | HG02451.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.97-1317A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17578344 | ||||||
| chr17:17578431
|
C | T | 2 | a0001c0001t0001g0091a0002c0002t0001g0018 | 2 | HG03540.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.97-1404G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17578431 | ||||||
| chr17:17578503
|
T | C | 1 | a0001c0001t0001g0340 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.97-1476A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17578503 | ||||||
| chr17:17578539
|
T | C | 10 | a0001c0001t0001g0026a0001c0001t0001g0047a0001c0001t0001g0288others(7): Show | 10 | HG01192.hp2 HG01257.hp2 HG01346.hp2 others(7): Show |
intron_variant | MODIFIER | c.97-1512A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17578539 | ||||||
| chr17:17578711
|
T | C | 69 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0074others(66): Show | 69 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(66): Show |
intron_variant | MODIFIER | c.97-1684A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17578711 | ||||||
| chr17:17578738
|
T | C | 1 | a0006c0008t0001g0013 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.97-1711A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17578738 | ||||||
| chr17:17578830
|
G | A | 2 | a0001c0001t0001g0072a0001c0001t0001g0073 | 2 | HG02451.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.97-1803C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17578830 | ||||||
| chr17:17578849
|
C | A | 9 | a0001c0001t0003g0005a0005c0006t0001g0007a0005c0006t0001g0008others(6): Show | 9 | HG01891.hp1 HG02258.hp1 HG02486.hp2 others(6): Show |
intron_variant | MODIFIER | c.97-1822G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17578849 | ||||||
| chr17:17578859
|
T | C | 2 | a0001c0001t0001g0072a0001c0001t0001g0073 | 2 | HG02451.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.97-1832A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17578859 | ||||||
| chr17:17578896
|
G | A | 2 | a0001c0001t0001g0072a0001c0001t0001g0073 | 2 | HG02451.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.97-1869C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17578896 | ||||||
| chr17:17578932
|
A | C | 1 | a0002c0002t0001g0126 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.97-1905T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17578932 | ||||||
| chr17:17578941
|
A | T | 3 | a0001c0001t0001g0082a0001c0001t0001g0088a0001c0001t0001g0174 | 3 | HG02818.hp2 HG03139.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.97-1914T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17578941 | ||||||
| chr17:17579088
|
G | C | 1 | a0001c0001t0001g0085 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.97-2061C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17579088 | ||||||
| chr17:17579090
|
G | A | 20 | a0001c0001t0001g0074a0001c0001t0001g0077a0001c0001t0001g0078others(17): Show | 20 | HG01109.hp1 HG02055.hp1 HG02257.hp2 others(17): Show |
intron_variant | MODIFIER | c.97-2063C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17579090 | ||||||
| chr17:17579120
|
G | T | 43 | a0001c0001t0001g0069a0001c0001t0001g0120a0001c0001t0001g0121others(40): Show | 44 | HG00544.hp2 HG01069.hp1 HG01071.hp1 others(41): Show |
intron_variant | MODIFIER | c.97-2093C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17579120 | ||||||
| chr17:17579136
|
G | T | 1 | a0001c0001t0001g0092 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.97-2109C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17579136 | ||||||
| chr17:17579176
|
C | T | 3 | a0001c0001t0001g0152a0001c0001t0002g0075a0001c0001t0002g0325 | 3 | HG02055.hp1 HG02965.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.97-2149G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17579176 | ||||||
| chr17:17579249
|
G | A | 1 | a0002c0002t0001g0322 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.97-2222C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17579249 | ||||||
| chr17:17579304
|
C | T | 2 | a0001c0001t0001g0071a0001c0001t0001g0327 | 2 | HG01975.hp1 HG01978.hp2 |
intron_variant | MODIFIER | c.97-2277G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17579304 | ||||||
| chr17:17579399
|
C | T | 1 | a0001c0001t0001g0028 | 1 | NA19090.hp2 | intron_variant | MODIFIER | c.97-2372G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17579399 | ||||||
| chr17:17579413
|
C | T | 27 | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0001g0095others(24): Show | 27 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(24): Show |
intron_variant | MODIFIER | c.97-2386G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17579413 | ||||||
| chr17:17579452
|
C | T | 46 | a0001c0001t0001g0118a0001c0001t0001g0119a0001c0001t0001g0122others(43): Show | 46 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(43): Show |
intron_variant | MODIFIER | c.97-2425G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17579452 | ||||||
| chr17:17579779
|
T | C | 1 | a0001c0001t0001g0154 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.97-2752A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17579779 | ||||||
| chr17:17579983
|
G | A | 21 | a0001c0001t0001g0122a0002c0002t0001g0116a0002c0002t0001g0117others(18): Show | 21 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(18): Show |
intron_variant | MODIFIER | c.97-2956C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17579983 | ||||||
| chr17:17580010
|
C | T | 1 | a0001c0001t0001g0298 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.97-2983G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17580010 | ||||||
| chr17:17580238
|
G | A | 2 | a0001c0001t0001g0072a0001c0001t0001g0073 | 2 | HG02451.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.97-3211C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17580238 | ||||||
| chr17:17580624
|
A | G | 1 | a0002c0002t0001g0274 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.97-3597T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17580624 | ||||||
| chr17:17580773
|
C | T | 2 | a0009c0013t0001g0055a0010c0014t0001g0048 | 2 | HG01358.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.97-3746G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17580773 | ||||||
| chr17:17580784
|
T | A | 2 | a0001c0001t0001g0072a0001c0001t0001g0073 | 2 | HG02451.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.97-3757A>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17580784 | ||||||
| chr17:17580906
|
G | A | 1 | a0006c0008t0001g0013 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.97-3879C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17580906 | ||||||
| chr17:17580921
|
C | T | 1 | a0001c0001t0003g0005 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.97-3894G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17580921 | ||||||
| chr17:17581227
|
G | A | 1 | a0001c0001t0003g0005 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.97-4200C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17581227 | ||||||
| chr17:17581308
|
C | T | 2 | a0001c0001t0001g0072a0001c0001t0001g0073 | 2 | HG02451.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.97-4281G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17581308 | ||||||
| chr17:17581340
|
C | T | 46 | a0001c0001t0001g0118a0001c0001t0001g0119a0001c0001t0001g0122others(43): Show | 46 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(43): Show |
intron_variant | MODIFIER | c.97-4313G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17581340 | ||||||
| chr17:17581374
|
C | G | 22 | a0001c0001t0001g0074a0001c0001t0001g0077a0001c0001t0001g0078others(19): Show | 22 | HG01109.hp1 HG02055.hp1 HG02257.hp2 others(19): Show |
intron_variant | MODIFIER | c.97-4347G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17581374 | ||||||
| chr17:17581405
|
G | A | 42 | a0001c0001t0001g0069a0001c0001t0001g0120a0001c0001t0001g0121others(39): Show | 43 | HG00544.hp2 HG01069.hp1 HG01071.hp1 others(40): Show |
intron_variant | MODIFIER | c.97-4378C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17581405 | ||||||
| chr17:17581463
|
T | TAAAAATG others(2091): Show |
1 | a0001c0001t0001g0041 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.97-4437_97-4436ins others(2098): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17581463 | ||||||
| chr17:17581497
|
G | C | 2 | a0009c0013t0001g0055a0010c0014t0001g0048 | 2 | HG01358.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.97-4470C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17581497 | ||||||
| chr17:17581611
|
AC | A | 20 | a0001c0001t0001g0074a0001c0001t0001g0077a0001c0001t0001g0078others(17): Show | 20 | HG01109.hp1 HG02055.hp1 HG02257.hp2 others(17): Show |
intron_variant | MODIFIER | c.97-4585delG | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17581611 | ||||||
| chr17:17581620
|
A | G | 33 | a0001c0001t0001g0118a0001c0001t0001g0119a0001c0001t0001g0122others(30): Show | 33 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(30): Show |
intron_variant | MODIFIER | c.97-4593T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17581620 | ||||||
| chr17:17581727
|
A | G | 14 | a0001c0001t0001g0074a0001c0001t0001g0077a0001c0001t0001g0078others(11): Show | 14 | HG01109.hp1 HG02451.hp1 HG02559.hp2 others(11): Show |
intron_variant | MODIFIER | c.97-4700T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17581727 | ||||||
| chr17:17581827
|
G | A | 1 | a0001c0001t0001g0214 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.97-4800C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17581827 | ||||||
| chr17:17581860
|
T | C | 2 | a0001c0001t0001g0283a0001c0001t0001g0294 | 2 | HG02132.hp1 NA18747.hp2 |
intron_variant | MODIFIER | c.97-4833A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17581860 | ||||||
| chr17:17581948
|
A | C | 1 | a0002c0002t0001g0136 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.97-4921T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17581948 | ||||||
| chr17:17582068
|
G | A | 2 | a0001c0001t0001g0164a0001c0001t0001g0170 | 2 | NA18943.hp2 NA18969.hp2 |
intron_variant | MODIFIER | c.97-5041C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17582068 | ||||||
| chr17:17582270
|
G | A | 16 | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0001g0095others(13): Show | 16 | HG00099.hp1 HG00423.hp2 HG01952.hp2 others(13): Show |
intron_variant | MODIFIER | c.97-5243C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17582270 | ||||||
| chr17:17582291
|
G | T | 2 | a0001c0001t0001g0202a0001c0001t0001g0204 | 2 | HG02922.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.97-5264C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17582291 | ||||||
| chr17:17582323
|
C | T | 1 | a0001c0001t0001g0095 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.97-5296G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17582323 | ||||||
| chr17:17582357
|
G | A | 2 | a0001c0001t0001g0072a0001c0001t0001g0073 | 2 | HG02451.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.97-5330C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17582357 | ||||||
| chr17:17582409
|
C | T | 20 | a0001c0001t0001g0074a0001c0001t0001g0077a0001c0001t0001g0078others(17): Show | 20 | HG01109.hp1 HG02055.hp1 HG02257.hp2 others(17): Show |
intron_variant | MODIFIER | c.97-5382G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17582409 | ||||||
| chr17:17582518
|
G | T | 4 | a0001c0001t0001g0202a0001c0001t0001g0204a0002c0002t0001g0201others(1): Show | 4 | HG02922.hp2 HG02970.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.97-5491C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17582518 | ||||||
| chr17:17582805
|
C | T | 1 | a0001c0001t0001g0340 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.97-5778G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17582805 | ||||||
| chr17:17582862
|
G | C | 20 | a0001c0001t0001g0074a0001c0001t0001g0077a0001c0001t0001g0078others(17): Show | 20 | HG01109.hp1 HG02055.hp1 HG02257.hp2 others(17): Show |
intron_variant | MODIFIER | c.97-5835C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17582862 | ||||||
| chr17:17582979
|
T | C | 4 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(1): Show | 4 | HG01975.hp2 HG01981.hp1 HG02273.hp2 others(1): Show |
intron_variant | MODIFIER | c.97-5952A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17582979 | ||||||
| chr17:17583010
|
C | T | 1 | a0006c0008t0001g0013 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.97-5983G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17583010 | ||||||
| chr17:17583061
|
CA | C | 9 | a0001c0001t0001g0225a0001c0001t0001g0250a0001c0001t0001g0309others(6): Show | 9 | HG01167.hp2 HG01168.hp1 HG01256.hp2 others(6): Show |
intron_variant | MODIFIER | c.97-6035delT | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17583061 | ||||||
| chr17:17583205
|
C | G | 70 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(67): Show | 75 | HG00280.hp2 HG00323.hp2 HG00408.hp2 others(72): Show |
intron_variant | MODIFIER | c.97-6178G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17583205 | ||||||
| chr17:17583480
|
A | T | 4 | a0001c0001t0001g0202a0001c0001t0001g0204a0002c0002t0001g0201others(1): Show | 4 | HG02922.hp2 HG02970.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.97-6453T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17583480 | ||||||
| chr17:17583644
|
A | G | 1 | a0001c0001t0001g0154 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.97-6617T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17583644 | ||||||
| chr17:17583698
|
G | A | 1 | a0001c0001t0001g0340 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.97-6671C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17583698 | ||||||
| chr17:17583793
|
C | T | 1 | a0001c0001t0003g0005 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.97-6766G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17583793 | ||||||
| chr17:17583923
|
AG | A | 3 | a0001c0001t0001g0152a0001c0001t0002g0075a0001c0001t0002g0325 | 3 | HG02055.hp1 HG02965.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.97-6897delC | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17583923 | ||||||
| chr17:17584034
|
G | A | 3 | a0001c0001t0001g0097a0001c0001t0001g0337a0001c0001t0001g0338 | 3 | NA18995.hp1 NA19074.hp2 NA19088.hp1 |
intron_variant | MODIFIER | c.97-7007C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17584034 | ||||||
| chr17:17584100
|
C | T | 1 | a0001c0001t0001g0165 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.97-7073G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17584100 | ||||||
| chr17:17584104
|
G | A | 9 | a0001c0001t0001g0276a0001c0001t0001g0280a0001c0001t0001g0287others(6): Show | 9 | NA18941.hp1 NA18947.hp1 NA18949.hp2 others(6): Show |
intron_variant | MODIFIER | c.97-7077C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17584104 | ||||||
| chr17:17584126
|
C | T | 70 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(67): Show | 75 | HG00280.hp2 HG00323.hp2 HG00408.hp2 others(72): Show |
intron_variant | MODIFIER | c.97-7099G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17584126 | ||||||
| chr17:17584252
|
C | T | 1 | a0001c0001t0001g0318 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.97-7225G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17584252 | ||||||
| chr17:17584262
|
C | T | 27 | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0001g0095others(24): Show | 27 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(24): Show |
intron_variant | MODIFIER | c.97-7235G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17584262 | ||||||
| chr17:17584322
|
G | A | 1 | a0001c0001t0001g0340 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.96+7209C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17584322 | ||||||
| chr17:17584361
|
G | A | 1 | a0001c0001t0001g0091 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.96+7170C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17584361 | ||||||
| chr17:17584381
|
G | A | 5 | a0001c0001t0001g0216a0001c0001t0001g0233a0001c0001t0001g0248others(2): Show | 5 | HG01192.hp1 HG02717.hp1 HG02809.hp1 others(2): Show |
intron_variant | MODIFIER | c.96+7150C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17584381 | ||||||
| chr17:17584405
|
T | C | 43 | a0001c0001t0001g0069a0001c0001t0001g0120a0001c0001t0001g0121others(40): Show | 44 | HG00544.hp2 HG01069.hp1 HG01071.hp1 others(41): Show |
intron_variant | MODIFIER | c.96+7126A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17584405 | ||||||
| chr17:17584441
|
G | A | 1 | a0001c0001t0003g0005 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.96+7090C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17584441 | ||||||
| chr17:17584635
|
T | G | 1 | a0002c0002t0001g0140 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.96+6896A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17584635 | ||||||
| chr17:17584735
|
C | T | 1 | a0001c0001t0001g0154 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.96+6796G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17584735 | ||||||
| chr17:17584789
|
A | G | 1 | a0001c0001t0001g0100 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.96+6742T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17584789 | ||||||
| chr17:17584810
|
C | T | 1 | a0001c0001t0001g0014 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.96+6721G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17584810 | ||||||
| chr17:17584912
|
T | C | 1 | a0001c0001t0001g0164 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.96+6619A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17584912 | ||||||
| chr17:17584919
|
G | A | 1 | a0001c0001t0003g0005 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.96+6612C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17584919 | ||||||
| chr17:17585188
|
A | T | 8 | a0005c0006t0001g0007a0005c0006t0001g0008a0005c0006t0001g0009others(5): Show | 8 | HG01891.hp1 HG02486.hp2 HG02572.hp2 others(5): Show |
intron_variant | MODIFIER | c.96+6343T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17585188 | ||||||
| chr17:17585253
|
G | A | 1 | a0001c0001t0001g0092 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.96+6278C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17585253 | ||||||
| chr17:17585307
|
C | G | 21 | a0001c0001t0001g0074a0001c0001t0001g0077a0001c0001t0001g0078others(18): Show | 21 | HG01109.hp1 HG02055.hp1 HG02257.hp2 others(18): Show |
intron_variant | MODIFIER | c.96+6224G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17585307 | ||||||
| chr17:17585445
|
T | C | 1 | a0003c0003t0001g0044 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.96+6086A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17585445 | ||||||
| chr17:17585501
|
G | A | 2 | a0001c0001t0001g0072a0001c0001t0001g0073 | 2 | HG02451.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.96+6030C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17585501 | ||||||
| chr17:17585513
|
A | G | 1 | a0001c0001t0001g0092 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.96+6018T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17585513 | ||||||
| chr17:17585554
|
C | T | 1 | a0003c0003t0001g0217 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.96+5977G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17585554 | ||||||
| chr17:17585781
|
A | C | 8 | a0005c0006t0001g0007a0005c0006t0001g0008a0005c0006t0001g0009others(5): Show | 8 | HG01891.hp1 HG02486.hp2 HG02572.hp2 others(5): Show |
intron_variant | MODIFIER | c.96+5750T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17585781 | ||||||
| chr17:17585837
|
C | T | 4 | a0001c0001t0001g0275a0001c0001t0001g0289a0003c0003t0001g0310others(1): Show | 4 | HG01109.hp2 HG01256.hp1 HG01361.hp1 others(1): Show |
intron_variant | MODIFIER | c.96+5694G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17585837 | ||||||
| chr17:17585932
|
A | G | 1 | a0004c0005t0001g0284 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.96+5599T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17585932 | ||||||
| chr17:17585944
|
G | A | 1 | a0001c0001t0001g0316 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.96+5587C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17585944 | ||||||
| chr17:17585991
|
G | A | 1 | a0003c0004t0001g0015 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.96+5540C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17585991 | ||||||
| chr17:17585992
|
A | G | 1 | a0003c0004t0001g0015 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.96+5539T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17585992 | ||||||
| chr17:17586061
|
C | T | 1 | a0004c0007t0001g0029 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.96+5470G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586061 | ||||||
| chr17:17586069
|
C | T | 5 | a0001c0001t0001g0275a0001c0001t0001g0289a0003c0003t0001g0310others(2): Show | 5 | HG01109.hp2 HG01256.hp1 HG01361.hp1 others(2): Show |
intron_variant | MODIFIER | c.96+5462G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586069 | ||||||
| chr17:17586082
|
C | CA | 12 | a0001c0001t0001g0045a0001c0001t0001g0168a0001c0001t0001g0195others(9): Show | 12 | HG00140.hp1 HG01175.hp1 HG01257.hp1 others(9): Show |
intron_variant | MODIFIER | c.96+5448dupT | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586082 | ||||||
| chr17:17586082
|
CA | C | 6 | a0001c0001t0001g0072a0001c0001t0001g0178a0001c0001t0001g0186others(3): Show | 6 | HG02451.hp2 NA18948.hp1 NA18984.hp1 others(3): Show |
intron_variant | MODIFIER | c.96+5448delT | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586082 | ||||||
| chr17:17586136
|
A | C | 1 | a0003c0004t0001g0015 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.96+5395T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586136 | ||||||
| chr17:17586154
|
AAAAG | A | 21 | a0001c0001t0001g0074a0001c0001t0001g0077a0001c0001t0001g0078others(18): Show | 21 | HG01109.hp1 HG02055.hp1 HG02257.hp2 others(18): Show |
intron_variant | MODIFIER | c.96+5373_96+5376del others(4): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586154 | ||||||
| chr17:17586189
|
A | G | 1 | a0003c0004t0001g0015 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.96+5342T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586189 | ||||||
| chr17:17586193
|
G | A | 1 | a0003c0004t0001g0015 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.96+5338C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586193 | ||||||
| chr17:17586197
|
G | A | 2 | a0001c0001t0001g0092a0003c0004t0001g0015 | 2 | HG03098.hp1 NA19011.hp1 |
intron_variant | MODIFIER | c.96+5334C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586197 | ||||||
| chr17:17586197
|
GGAAAGAA others(19): Show |
G | 1 | a0006c0008t0001g0013 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.96+5308_96+5333del others(26): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586197 | ||||||
| chr17:17586197
|
GGAAAGAA others(23): Show |
G | 1 | a0005c0006t0001g0011 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.96+5304_96+5333del others(30): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586197 | ||||||
| chr17:17586197
|
GGAAAGAA others(27): Show |
G | 2 | a0005c0006t0001g0009a0005c0006t0001g0010 | 2 | NA18906.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.96+5300_96+5333del others(34): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586197 | ||||||
| chr17:17586197
|
GGAAAGAA others(35): Show |
G | 1 | a0005c0006t0002g0006 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.96+5292_96+5333del others(42): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586197 | ||||||
| chr17:17586197
|
GGAAAGAA others(43): Show |
G | 2 | a0005c0006t0001g0007a0005c0006t0001g0008 | 2 | HG02572.hp2 HG02818.hp1 |
intron_variant | MODIFIER | c.96+5284_96+5333del others(50): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586197 | ||||||
| chr17:17586201
|
A | G | 21 | a0001c0001t0001g0074a0001c0001t0001g0077a0001c0001t0001g0078others(18): Show | 21 | HG01109.hp1 HG02055.hp1 HG02257.hp2 others(18): Show |
intron_variant | MODIFIER | c.96+5330T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586201 | ||||||
| chr17:17586207
|
A | C | 1 | a0001c0001t0001g0028 | 1 | NA19090.hp2 | intron_variant | MODIFIER | c.96+5324T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586207 | ||||||
| chr17:17586208
|
AAGAAAGA others(5): Show |
A | 1 | a0001c0001t0001g0073 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.96+5311_96+5322del others(12): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586208 | ||||||
| chr17:17586210
|
G | A | 1 | a0001c0001t0001g0072 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.96+5321C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586210 | ||||||
| chr17:17586212
|
A | C | 43 | a0001c0001t0001g0069a0001c0001t0001g0120a0001c0001t0001g0121others(40): Show | 44 | HG00544.hp2 HG01069.hp1 HG01071.hp1 others(41): Show |
intron_variant | MODIFIER | c.96+5319T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586212 | ||||||
| chr17:17586212
|
A | G | 1 | a0001c0001t0001g0072 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.96+5319T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586212 | ||||||
| chr17:17586214
|
G | A | 3 | a0001c0001t0001g0072a0001c0001t0001g0092a0002c0002t0001g0224 | 3 | HG02451.hp2 HG03098.hp1 HG03239.hp2 |
intron_variant | MODIFIER | c.96+5317C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586214 | ||||||
| chr17:17586216
|
A | AAAAG | 29 | a0001c0001t0001g0016a0001c0001t0001g0071a0001c0001t0001g0185others(26): Show | 29 | HG00323.hp1 HG01081.hp2 HG01123.hp2 others(26): Show |
intron_variant | MODIFIER | c.96+5311_96+5314dup others(4): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586216 | ||||||
| chr17:17586216
|
A | AAAAGAAA others(1): Show |
20 | a0001c0001t0001g0101a0001c0001t0001g0181a0001c0001t0001g0182others(17): Show | 20 | HG00423.hp1 HG00423.hp2 HG01106.hp2 others(17): Show |
intron_variant | MODIFIER | c.96+5307_96+5314dup others(8): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586216 | ||||||
| chr17:17586216
|
A | AAAAGAAA others(5): Show |
12 | a0001c0001t0001g0196a0001c0001t0001g0202a0001c0001t0001g0218others(9): Show | 12 | HG02132.hp1 HG02523.hp1 HG02523.hp2 others(9): Show |
intron_variant | MODIFIER | c.96+5303_96+5314dup others(12): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586216 | ||||||
| chr17:17586216
|
A | AAAAGAAA others(13): Show |
1 | a0001c0001t0001g0180 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.96+5295_96+5314dup others(20): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586216 | ||||||
| chr17:17586216
|
A | AGAAAGAA others(10): Show |
1 | a0002c0002t0001g0279 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.96+5314_96+5315ins others(17): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586216 | ||||||
| chr17:17586216
|
A | G | 24 | a0001c0001t0001g0072a0001c0001t0001g0074a0001c0001t0001g0077others(21): Show | 24 | HG01109.hp1 HG02055.hp1 HG02257.hp2 others(21): Show |
intron_variant | MODIFIER | c.96+5315T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586216 | ||||||
| chr17:17586216
|
AAAAG | A | 26 | a0001c0001t0001g0014a0001c0001t0001g0070a0001c0001t0001g0104others(23): Show | 26 | HG00099.hp1 HG01243.hp2 HG01256.hp1 others(23): Show |
intron_variant | MODIFIER | c.96+5311_96+5314del others(4): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586216 | ||||||
| chr17:17586216
|
AAAAGAAA others(1): Show |
A | 6 | a0001c0001t0001g0259a0001c0001t0001g0330a0001c0001t0001g0331others(3): Show | 8 | HG01192.hp1 HG01515.hp1 HG02040.hp2 others(5): Show |
intron_variant | MODIFIER | c.96+5307_96+5314del others(8): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586216 | ||||||
| chr17:17586216
|
AAAAGAAA others(5): Show |
A | 1 | a0001c0001t0001g0317 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.96+5303_96+5314del others(12): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586216 | ||||||
| chr17:17586216
|
AAAAGAAA others(9): Show |
A | 1 | a0001c0001t0001g0154 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.96+5299_96+5314del others(16): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586216 | ||||||
| chr17:17586249
|
AAAGAAAG others(24): Show |
A | 1 | a0005c0006t0001g0012 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.96+5251_96+5281del others(31): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586249 | ||||||
| chr17:17586256
|
GAAAGAAA others(29): Show |
G | 1 | a0001c0001t0001g0149 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.96+5239_96+5274del others(36): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586256 | ||||||
| chr17:17586260
|
GAAAGAAA others(25): Show |
G | 1 | a0002c0002t0001g0148 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.96+5239_96+5270del others(32): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586260 | ||||||
| chr17:17586264
|
G | T | 1 | a0003c0003t0001g0217 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.96+5267C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586264 | ||||||
| chr17:17586264
|
GAAAGAAA others(18): Show |
G | 1 | a0001c0001t0001g0112 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.96+5242_96+5266del others(25): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586264 | ||||||
| chr17:17586264
|
GAAAGAAA others(21): Show |
G | 4 | a0001c0001t0001g0119a0001c0001t0001g0146a0001c0001t0001g0147others(1): Show | 4 | HG02280.hp2 HG02809.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.96+5239_96+5266del others(28): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586264 | ||||||
| chr17:17586264
|
GAAAGAAA others(23): Show |
G | 1 | a0002c0002t0001g0153 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.96+5237_96+5266del others(30): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586264 | ||||||
| chr17:17586267
|
A | G | 1 | a0003c0004t0001g0015 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.96+5264T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586267 | ||||||
| chr17:17586268
|
G | A | 1 | a0003c0004t0001g0015 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.96+5263C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586268 | ||||||
| chr17:17586268
|
GAAAGAAA others(17): Show |
G | 2 | a0001c0001t0001g0143a0003c0003t0001g0144 | 2 | HG01243.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.96+5239_96+5262del others(24): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586268 | ||||||
| chr17:17586268
|
GAAAGAAA others(19): Show |
G | 1 | a0002c0002t0001g0076 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.96+5237_96+5262del others(26): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586268 | ||||||
| chr17:17586270
|
AAGAAAGA others(7): Show |
A | 1 | a0001c0001t0003g0005 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.96+5247_96+5260del others(14): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586270 | ||||||
| chr17:17586272
|
GAAAGAAA others(13): Show |
G | 1 | a0001c0001t0001g0142 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.96+5239_96+5258del others(20): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586272 | ||||||
| chr17:17586272
|
GAAAGAAA others(14): Show |
G | 1 | a0001c0001t0001g0123 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.96+5238_96+5258del others(21): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586272 | ||||||
| chr17:17586272
|
GAAAGAAA others(15): Show |
G | 5 | a0001c0001t0001g0074a0001c0001t0001g0077a0001c0001t0001g0078others(2): Show | 5 | HG01109.hp1 HG02895.hp1 HG03471.hp1 others(2): Show |
intron_variant | MODIFIER | c.96+5237_96+5258del others(22): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586272 | ||||||
| chr17:17586273
|
AAAGAAAG others(8): Show |
A | 2 | a0002c0002t0001g0260a0002c0002t0001g0261 | 2 | HG01515.hp2 HG01517.hp1 |
intron_variant | MODIFIER | c.96+5243_96+5257del others(15): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586273 | ||||||
| chr17:17586274
|
AAGAAAGA others(3): Show |
A | 1 | a0003c0004t0001g0063 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.96+5247_96+5256del others(10): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586274 | ||||||
| chr17:17586276
|
GAAAGAAA others(6): Show |
G | 1 | a0001c0001t0001g0111 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.96+5242_96+5254del others(13): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586276 | ||||||
| chr17:17586276
|
GAAAGAAA others(9): Show |
G | 3 | a0001c0001t0001g0118a0001c0001t0001g0141a0001c0001t0001g0151 | 3 | HG02647.hp1 HG03130.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.96+5239_96+5254del others(16): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586276 | ||||||
| chr17:17586276
|
GAAAGAAA others(11): Show |
G | 1 | a0001c0001t0001g0089 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.96+5237_96+5254del others(18): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586276 | ||||||
| chr17:17586280
|
GAAAGAAA others(3): Show |
G | 4 | a0001c0001t0001g0169a0001c0001t0001g0176a0001c0001t0001g0333others(1): Show | 4 | HG02055.hp2 HG02622.hp2 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.96+5241_96+5250del others(10): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586280 | ||||||
| chr17:17586280
|
GAAAGAAA others(5): Show |
G | 2 | a0001c0001t0001g0204a0002c0002t0001g0117 | 2 | HG01069.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.96+5239_96+5250del others(12): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586280 | ||||||
| chr17:17586280
|
GAAAGAAA others(7): Show |
G | 1 | a0001c0001t0002g0075 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.96+5237_96+5250del others(14): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586280 | ||||||
| chr17:17586281
|
AAAG | A | 5 | a0001c0001t0001g0061a0001c0001t0001g0266a0003c0003t0001g0059others(2): Show | 5 | HG01346.hp1 HG01978.hp1 HG02165.hp2 others(2): Show |
intron_variant | MODIFIER | c.96+5247_96+5249del others(3): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586281 | ||||||
| chr17:17586283
|
AG | A | 7 | a0003c0003t0001g0269a0003c0003t0001g0270a0005c0006t0001g0007others(4): Show | 7 | HG01891.hp1 HG02572.hp2 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.96+5247delC | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586283 | ||||||
| chr17:17586284
|
G | A | 3 | a0005c0006t0001g0010a0005c0006t0001g0011a0005c0006t0001g0012 | 3 | HG02486.hp2 HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.96+5247C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586284 | ||||||
| chr17:17586284
|
G | GAA | 4 | a0003c0003t0001g0002a0003c0003t0001g0062a0003c0003t0001g0267others(1): Show | 6 | HG02257.hp1 NA18939.hp1 NA18947.hp2 others(3): Show |
intron_variant | MODIFIER | c.96+5245_96+5246dup others(2): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586284 | ||||||
| chr17:17586284
|
GAAAGA | G | 7 | a0001c0001t0001g0100a0001c0001t0001g0107a0001c0001t0001g0110others(4): Show | 7 | HG01175.hp2 HG02080.hp1 HG02135.hp1 others(4): Show |
intron_variant | MODIFIER | c.96+5242_96+5246del others(5): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586284 | ||||||
| chr17:17586284
|
GAAAGAA | G | 6 | a0001c0001t0001g0156a0001c0001t0001g0165a0001c0001t0001g0166others(3): Show | 6 | HG00544.hp2 HG01884.hp1 NA18950.hp1 others(3): Show |
intron_variant | MODIFIER | c.96+5241_96+5246del others(6): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586284 | ||||||
| chr17:17586284
|
GAAAGAAA others(1): Show |
G | 6 | a0002c0002t0001g0136a0002c0002t0001g0137a0002c0002t0001g0138others(3): Show | 6 | HG00099.hp2 HG01070.hp2 HG02258.hp2 others(3): Show |
intron_variant | MODIFIER | c.96+5239_96+5246del others(8): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586284 | ||||||
| chr17:17586284
|
GAAAGAAA others(3): Show |
G | 5 | a0001c0001t0001g0081a0001c0001t0001g0082a0001c0001t0001g0090others(2): Show | 5 | HG02055.hp1 HG02559.hp2 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.96+5237_96+5246del others(10): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586284 | ||||||
| chr17:17586287
|
AG | A | 4 | a0001c0001t0001g0047a0003c0004t0001g0213a0004c0005t0001g0046others(1): Show | 4 | HG01884.hp2 HG03834.hp2 HG04228.hp2 others(1): Show |
intron_variant | MODIFIER | c.96+5243delC | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586287 | ||||||
| chr17:17586288
|
G | A | 40 | a0001c0001t0001g0049a0001c0001t0001g0061a0001c0001t0001g0262others(37): Show | 44 | HG00408.hp2 HG00544.hp1 HG00639.hp2 others(41): Show |
intron_variant | MODIFIER | c.96+5243C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586288 | ||||||
| chr17:17586288
|
G | GAAA | 7 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0045others(4): Show | 7 | HG01123.hp1 HG01169.hp1 HG01257.hp1 others(4): Show |
intron_variant | MODIFIER | c.96+5240_96+5242dup others(3): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586288 | ||||||
| chr17:17586288
|
G | GAAAGAAA others(5): Show |
1 | a0004c0005t0001g0211 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.96+5242_96+5243ins others(12): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586288 | ||||||
| chr17:17586288
|
G | GAAAGAAA others(6): Show |
1 | a0001c0001t0001g0265 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.96+5242_96+5243ins others(13): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586288 | ||||||
| chr17:17586288
|
GA | G | 8 | a0001c0001t0001g0094a0001c0001t0001g0098a0001c0001t0001g0099others(5): Show | 8 | HG00741.hp1 HG02738.hp1 NA18942.hp1 others(5): Show |
intron_variant | MODIFIER | c.96+5242delT | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586288 | ||||||
| chr17:17586288
|
GAA | G | 10 | a0001c0001t0001g0069a0001c0001t0001g0083a0001c0001t0001g0084others(7): Show | 10 | HG01891.hp2 HG02080.hp2 HG02083.hp1 others(7): Show |
intron_variant | MODIFIER | c.96+5241_96+5242del others(2): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586288 | ||||||
| chr17:17586288
|
GAAAA | G | 7 | a0002c0002t0001g0130a0002c0002t0001g0131a0002c0002t0001g0132others(4): Show | 7 | HG00140.hp1 HG00741.hp2 HG01256.hp2 others(4): Show |
intron_variant | MODIFIER | c.96+5239_96+5242del others(4): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586288 | ||||||
| chr17:17586289
|
A | AAAG | 13 | a0001c0001t0001g0093a0001c0001t0001g0095a0001c0001t0001g0096others(10): Show | 13 | HG01109.hp2 HG01952.hp2 HG02015.hp1 others(10): Show |
intron_variant | MODIFIER | c.96+5241_96+5242ins others(3): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586289 | ||||||
| chr17:17586289
|
A | AAAGAAAG others(4): Show |
1 | a0001c0001t0001g0026 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.96+5241_96+5242ins others(11): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586289 | ||||||
| chr17:17586289
|
A | AAAGAAAG others(8): Show |
1 | a0001c0001t0001g0177 | 1 | NA19009.hp2 | intron_variant | MODIFIER | c.96+5241_96+5242ins others(15): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586289 | ||||||
| chr17:17586289
|
A | G | 2 | a0001c0001t0001g0072a0001c0001t0001g0073 | 2 | HG02451.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.96+5242T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586289 | ||||||
| chr17:17586290
|
A | AAG | 8 | a0001c0001t0001g0085a0001c0001t0001g0159a0001c0001t0001g0161others(5): Show | 8 | HG01433.hp1 HG02040.hp1 HG02896.hp2 others(5): Show |
intron_variant | MODIFIER | c.96+5240_96+5241ins others(2): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586290 | ||||||
| chr17:17586290
|
A | AAGAAAGA others(3): Show |
7 | a0001c0001t0001g0120a0001c0001t0001g0157a0001c0001t0001g0174others(4): Show | 7 | HG02486.hp1 HG02818.hp2 NA18973.hp2 others(4): Show |
intron_variant | MODIFIER | c.96+5240_96+5241ins others(10): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586290 | ||||||
| chr17:17586290
|
A | AAGAAAGA others(7): Show |
1 | a0002c0002t0001g0328 | 1 | NA18959.hp2 | intron_variant | MODIFIER | c.96+5240_96+5241ins others(14): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586290 | ||||||
| chr17:17586291
|
A | AG | 2 | a0002c0002t0001g0004a0002c0002t0001g0194 | 3 | HG01071.hp1 HG01099.hp2 HG03831.hp2 |
intron_variant | MODIFIER | c.96+5239_96+5240ins others(1): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586291 | ||||||
| chr17:17586291
|
A | AGAAAGAA others(10): Show |
1 | a0001c0001t0001g0155 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.96+5239_96+5240ins others(17): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586291 | ||||||
| chr17:17586292
|
A | G | 11 | a0001c0001t0001g0202a0001c0001t0001g0271a0001c0001t0001g0273others(8): Show | 11 | HG00323.hp1 HG00639.hp1 HG01106.hp2 others(8): Show |
intron_variant | MODIFIER | c.96+5239T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586292 | ||||||
| chr17:17586293
|
A | G | 1 | a0001c0001t0001g0122 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.96+5238T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586293 | ||||||
| chr17:17586294
|
A | G | 4 | a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0085others(1): Show | 4 | HG02630.hp2 HG02922.hp1 HG02965.hp2 others(1): Show |
intron_variant | MODIFIER | c.96+5237T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586294 | ||||||
| chr17:17586346
|
C | A | 1 | a0001c0001t0001g0092 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.96+5185G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586346 | ||||||
| chr17:17586373
|
T | C | 21 | a0001c0001t0001g0074a0001c0001t0001g0077a0001c0001t0001g0078others(18): Show | 21 | HG01109.hp1 HG02055.hp1 HG02257.hp2 others(18): Show |
intron_variant | MODIFIER | c.96+5158A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586373 | ||||||
| chr17:17586546
|
G | A | 1 | a0001c0001t0001g0154 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.96+4985C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586546 | ||||||
| chr17:17586579
|
G | C | 1 | a0001c0001t0001g0174 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.96+4952C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586579 | ||||||
| chr17:17586666
|
G | T | 1 | a0002c0002t0001g0201 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.96+4865C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586666 | ||||||
| chr17:17586754
|
G | A | 8 | a0001c0001t0001g0175a0001c0001t0001g0176a0001c0001t0001g0177others(5): Show | 8 | HG02055.hp2 HG02886.hp1 HG03017.hp2 others(5): Show |
intron_variant | MODIFIER | c.96+4777C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586754 | ||||||
| chr17:17586844
|
T | C | 2 | a0001c0001t0001g0089a0001c0001t0001g0090 | 2 | HG02559.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.96+4687A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586844 | ||||||
| chr17:17586864
|
G | A | 21 | a0001c0001t0001g0074a0001c0001t0001g0077a0001c0001t0001g0078others(18): Show | 21 | HG01109.hp1 HG02055.hp1 HG02257.hp2 others(18): Show |
intron_variant | MODIFIER | c.96+4667C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586864 | ||||||
| chr17:17586876
|
G | A | 1 | a0006c0008t0001g0013 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.96+4655C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586876 | ||||||
| chr17:17586913
|
G | A | 2 | a0001c0001t0001g0072a0001c0001t0001g0073 | 2 | HG02451.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.96+4618C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586913 | ||||||
| chr17:17586997
|
C | G | 1 | a0004c0005t0001g0025 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.96+4534G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17586997 | ||||||
| chr17:17587069
|
T | A | 1 | a0003c0004t0001g0015 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.96+4462A>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17587069 | ||||||
| chr17:17587175
|
C | T | 240 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(237): Show | 246 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(243): Show |
intron_variant | MODIFIER | c.96+4356G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17587175 | ||||||
| chr17:17587424
|
C | T | 2 | a0001c0001t0001g0072a0001c0001t0001g0073 | 2 | HG02451.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.96+4107G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17587424 | ||||||
| chr17:17587541
|
T | C | 1 | a0001c0001t0001g0341 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.96+3990A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17587541 | ||||||
| chr17:17587730
|
C | T | 1 | a0001c0001t0001g0156 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.96+3801G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17587730 | ||||||
| chr17:17587826
|
G | A | 21 | a0001c0001t0001g0074a0001c0001t0001g0077a0001c0001t0001g0078others(18): Show | 21 | HG01109.hp1 HG02055.hp1 HG02257.hp2 others(18): Show |
intron_variant | MODIFIER | c.96+3705C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17587826 | ||||||
| chr17:17587940
|
A | C | 1 | a0001c0001t0001g0024 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.96+3591T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17587940 | ||||||
| chr17:17587974
|
C | T | 1 | a0001c0001t0001g0091 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.96+3557G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17587974 | ||||||
| chr17:17588023
|
G | A | 1 | a0005c0006t0002g0006 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.96+3508C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17588023 | ||||||
| chr17:17588114
|
C | T | 2 | a0001c0001t0001g0072a0001c0001t0001g0073 | 2 | HG02451.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.96+3417G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17588114 | ||||||
| chr17:17588174
|
T | C | 2 | a0001c0001t0001g0072a0001c0001t0001g0073 | 2 | HG02451.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.96+3357A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17588174 | ||||||
| chr17:17588522
|
C | G | 59 | a0001c0001t0001g0074a0001c0001t0001g0077a0001c0001t0001g0078others(56): Show | 59 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(56): Show |
intron_variant | MODIFIER | c.96+3009G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17588522 | ||||||
| chr17:17588614
|
G | A | 1 | a0005c0006t0002g0006 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.96+2917C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17588614 | ||||||
| chr17:17588688
|
A | G | 60 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(57): Show | 63 | HG00280.hp2 HG00323.hp2 HG00544.hp1 others(60): Show |
intron_variant | MODIFIER | c.96+2843T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17588688 | ||||||
| chr17:17588746
|
A | G | 60 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(57): Show | 63 | HG00280.hp2 HG00323.hp2 HG00544.hp1 others(60): Show |
intron_variant | MODIFIER | c.96+2785T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17588746 | ||||||
| chr17:17588763
|
G | T | 58 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(55): Show | 61 | HG00280.hp2 HG00323.hp2 HG00544.hp1 others(58): Show |
intron_variant | MODIFIER | c.96+2768C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17588763 | ||||||
| chr17:17588841
|
G | A | 1 | a0001c0001t0001g0318 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.96+2690C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17588841 | ||||||
| chr17:17588902
|
G | A | 6 | a0001c0001t0001g0202a0001c0001t0001g0204a0002c0002t0001g0201others(3): Show | 6 | HG01891.hp1 HG02922.hp2 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.96+2629C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17588902 | ||||||
| chr17:17589018
|
T | G | 9 | a0001c0001t0001g0151a0005c0006t0001g0007a0005c0006t0001g0008others(6): Show | 9 | HG01891.hp1 HG02486.hp2 HG02572.hp2 others(6): Show |
intron_variant | MODIFIER | c.96+2513A>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17589018 | ||||||
| chr17:17589021
|
C | T | 1 | a0001c0001t0001g0340 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.96+2510G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17589021 | ||||||
| chr17:17589022
|
G | A | 8 | a0001c0001t0001g0319a0001c0001t0001g0320a0001c0001t0001g0321others(5): Show | 8 | HG01255.hp2 HG01358.hp2 HG01928.hp1 others(5): Show |
intron_variant | MODIFIER | c.96+2509C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17589022 | ||||||
| chr17:17589053
|
G | C | 22 | a0001c0001t0001g0074a0001c0001t0001g0077a0001c0001t0001g0078others(19): Show | 22 | HG01109.hp1 HG02055.hp1 HG02257.hp2 others(19): Show |
intron_variant | MODIFIER | c.96+2478C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17589053 | ||||||
| chr17:17589117
|
C | T | 1 | a0001c0001t0001g0212 | 1 | NA18994.hp2 | intron_variant | MODIFIER | c.96+2414G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17589117 | ||||||
| chr17:17589138
|
T | C | 1 | a0007c0011t0001g0326 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.96+2393A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17589138 | ||||||
| chr17:17589190
|
G | A | 2 | a0001c0001t0001g0071a0001c0001t0001g0327 | 2 | HG01975.hp1 HG01978.hp2 |
intron_variant | MODIFIER | c.96+2341C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17589190 | ||||||
| chr17:17589190
|
G | C | 1 | a0001c0001t0001g0115 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.96+2341C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17589190 | ||||||
| chr17:17589216
|
C | T | 1 | a0001c0001t0001g0155 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.96+2315G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17589216 | ||||||
| chr17:17589234
|
T | A | 1 | a0003c0004t0001g0015 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.96+2297A>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17589234 | ||||||
| chr17:17589272
|
A | AT | 83 | a0001c0001t0001g0024a0001c0001t0001g0026a0001c0001t0001g0028others(80): Show | 86 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(83): Show |
intron_variant | MODIFIER | c.96+2258dupA | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17589272 | ||||||
| chr17:17589272
|
A | ATT | 51 | a0001c0001t0001g0016a0001c0001t0001g0069a0001c0001t0001g0118others(48): Show | 52 | HG00438.hp2 HG00544.hp2 HG00741.hp1 others(49): Show |
intron_variant | MODIFIER | c.96+2257_96+2258dup others(2): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17589272 | ||||||
| chr17:17589272
|
AT | A | 52 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(49): Show | 52 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(49): Show |
intron_variant | MODIFIER | c.96+2258delA | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17589272 | ||||||
| chr17:17589291
|
T | A | 13 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0107others(10): Show | 13 | HG00673.hp2 HG01099.hp1 HG02071.hp1 others(10): Show |
intron_variant | MODIFIER | c.96+2240A>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17589291 | ||||||
| chr17:17589291
|
TA | T | 4 | a0001c0001t0001g0202a0001c0001t0001g0204a0002c0002t0001g0201others(1): Show | 4 | HG02922.hp2 HG02970.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.96+2239delT | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17589291 | ||||||
| chr17:17589292
|
A | T | 152 | a0001c0001t0001g0016a0001c0001t0001g0024a0001c0001t0001g0026others(149): Show | 156 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(153): Show |
intron_variant | MODIFIER | c.96+2239T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17589292 | ||||||
| chr17:17589293
|
A | T | 2 | a0002c0002t0001g0116a0003c0004t0001g0015 | 2 | NA19011.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.96+2238T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17589293 | ||||||
| chr17:17589340
|
G | A | 31 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(28): Show | 31 | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(28): Show |
intron_variant | MODIFIER | c.96+2191C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17589340 | ||||||
| chr17:17589732
|
A | C | 1 | a0003c0003t0001g0022 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.96+1799T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17589732 | ||||||
| chr17:17589772
|
T | C | 157 | a0001c0001t0001g0016a0001c0001t0001g0024a0001c0001t0001g0026others(154): Show | 161 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(158): Show |
intron_variant | MODIFIER | c.96+1759A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17589772 | ||||||
| chr17:17589958
|
G | A | 140 | a0001c0001t0001g0016a0001c0001t0001g0024a0001c0001t0001g0026others(137): Show | 144 | HG00280.hp2 HG00323.hp2 HG00438.hp2 others(141): Show |
intron_variant | MODIFIER | c.96+1573C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17589958 | ||||||
| chr17:17589991
|
G | C | 20 | a0001c0001t0001g0074a0001c0001t0001g0077a0001c0001t0001g0078others(17): Show | 20 | HG01109.hp1 HG01433.hp1 HG01891.hp2 others(17): Show |
intron_variant | MODIFIER | c.96+1540C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17589991 | ||||||
| chr17:17590040
|
G | GC | 13 | a0001c0001t0001g0202a0001c0001t0001g0204a0002c0002t0001g0201others(10): Show | 13 | HG01891.hp1 HG02486.hp2 HG02572.hp2 others(10): Show |
intron_variant | MODIFIER | c.96+1490dupG | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17590040 | ||||||
| chr17:17590045
|
C | A | 1 | a0001c0001t0001g0334 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.96+1486G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17590045 | ||||||
| chr17:17590081
|
G | A | 1 | a0002c0002t0001g0335 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.96+1450C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17590081 | ||||||
| chr17:17590159
|
T | A | 1 | a0003c0003t0001g0205 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.96+1372A>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17590159 | ||||||
| chr17:17590285
|
C | T | 1 | a0005c0006t0002g0006 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.96+1246G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17590285 | ||||||
| chr17:17590345
|
G | C | 1 | a0002c0002t0001g0336 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.96+1186C>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17590345 | ||||||
| chr17:17590421
|
G | A | 3 | a0001c0001t0001g0208a0004c0005t0001g0206a0004c0005t0001g0207 | 3 | HG02486.hp1 HG02896.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.96+1110C>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17590421 | ||||||
| chr17:17590496
|
A | G | 208 | a0001c0001t0001g0016a0001c0001t0001g0019a0001c0001t0001g0020others(205): Show | 212 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(209): Show |
intron_variant | MODIFIER | c.96+1035T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17590496 | ||||||
| chr17:17590513
|
A | ACT | 19 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0074others(16): Show | 19 | HG01109.hp1 HG02451.hp1 HG02451.hp2 others(16): Show |
intron_variant | MODIFIER | c.96+1016_96+1017dup others(2): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17590513 | ||||||
| chr17:17590678
|
C | G | 1 | a0003c0003t0001g0017 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.96+853G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17590678 | ||||||
| chr17:17590687
|
T | A | 1 | a0003c0004t0001g0015 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.96+844A>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17590687 | ||||||
| chr17:17590701
|
C | T | 207 | a0001c0001t0001g0016a0001c0001t0001g0019a0001c0001t0001g0020others(204): Show | 211 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(208): Show |
intron_variant | MODIFIER | c.96+830G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17590701 | ||||||
| chr17:17590714
|
T | C | 2 | a0001c0001t0001g0337a0001c0001t0001g0338 | 2 | NA18995.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.96+817A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17590714 | ||||||
| chr17:17590828
|
A | G | 1 | a0001c0001t0001g0071 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.96+703T>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17590828 | ||||||
| chr17:17590954
|
G | T | 1 | a0001c0001t0001g0070 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.96+577C>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17590954 | ||||||
| chr17:17591114
|
A | T | 1 | a0001c0001t0001g0069 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.96+417T>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17591114 | ||||||
| chr17:17591158
|
T | C | 1 | a0001c0001t0001g0339 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.96+373A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17591158 | ||||||
| chr17:17591188
|
C | A | 1 | a0003c0004t0001g0015 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.96+343G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17591188 | ||||||
| chr17:17591231
|
GACA | G | 55 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(52): Show | 58 | HG00280.hp2 HG00323.hp2 HG00544.hp1 others(55): Show |
intron_variant | MODIFIER | c.96+297_96+299delTG others(1): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17591231 | ||||||
| chr17:17591244
|
T | A | 8 | a0005c0006t0001g0007a0005c0006t0001g0008a0005c0006t0001g0009others(5): Show | 8 | HG01891.hp1 HG02486.hp2 HG02572.hp2 others(5): Show |
intron_variant | MODIFIER | c.96+287A>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17591244 | ||||||
| chr17:17591270
|
A | C | 1 | a0001c0001t0001g0016 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.96+261T>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17591270 | ||||||
| chr17:17591354
|
C | G | 1 | a0003c0004t0001g0015 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.96+177G>C | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17591354 | ||||||
| chr17:17591370
|
C | T | 1 | a0001c0001t0001g0014 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.96+161G>A | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17591370 | ||||||
| chr17:17591391
|
C | A | 1 | a0001c0001t0001g0340 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.96+140G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17591391 | ||||||
| chr17:17591420
|
T | C | 1 | a0001c0001t0001g0341 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.96+111A>G | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17591420 | ||||||
| chr17:17591481
|
C | A | 1 | a0002c0002t0001g0342 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.96+50G>T | PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | 17591481 |