Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| geneid | 101059953 |
|---|---|
| ensemblid | ENSG00000214940.9 |
| hgncid | 41983 |
| symbol | NPIPA8 |
| name | nuclear pore complex interacting protein family member A8 |
| refseq_nuc | NM_001282511.3 |
| refseq_prot | NP_001269440.1 |
| ensembl_nuc | ENST00000525596.6 |
| ensembl_prot | ENSP00000435325.1 |
| mane_status | MANE Select |
| chr | chr16 |
| start | 18317919 |
| end | 18336736 |
| strand | - |
| ver | v1.2 |
| region | chr16:18317919-18336736 |
| region5000 | chr16:18312919-18341736 |
| regionname0 | NPIPA8_chr16_18317919_18336736 |
| regionname5000 | NPIPA8_chr16_18312919_18341736 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/0 | 369 | 26 | 7 | 4 | 14 | 1 | 0 | 8 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| a0002 | 0/0 | 369 | 6 | 0 | 1 | 5 | 0 | 0 | 5 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| a0003 | 0/0 | 369 | 3 | 0 | 1 | 2 | 0 | 0 | 1 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| a0004 | 0/0 | 369 | 2 | 0 | 0 | 2 | 0 | 0 | 1 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| a0005 | 0/0 | 369 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| a0006 | 0/0 | 369 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| a0007 | 0/0 | 369 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| chapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 0/0 | 1110 | 16 | 1 | 4 | 10 | 1 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| c0002 | 0/0 | 1110 | 9 | 5 | 0 | 4 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| c0003 | 0/0 | 1110 | 3 | 0 | 1 | 2 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| c0004 | 0/0 | 1110 | 3 | 0 | 0 | 3 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| c0005 | 0/0 | 1110 | 2 | 0 | 1 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| c0006 | 0/0 | 1110 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| c0007 | 0/0 | 1110 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| c0008 | 0/0 | 1110 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| c0009 | 0/0 | 1110 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| c0010 | 0/0 | 1110 | 1 | 0 | 0 | 0 | 1 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| c0011 | 0/0 | 1110 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| c0012 | 0/0 | 1110 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| thapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 0/0 | 479 | 26 | 5 | 4 | 16 | 1 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| t0002 | 0/0 | 479 | 4 | 1 | 1 | 2 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| t0003 | 0/0 | 479 | 2 | 0 | 0 | 2 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| t0004 | 0/0 | 460 | 1 | 0 | 1 | 0 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| t0005 | 0/0 | 460 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| t0006 | 0/0 | 478 | 1 | 0 | 0 | 0 | 1 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| t0007 | 0/0 | 478 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| t0008 | 0/0 | 479 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| t0009 | 0/0 | 479 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| t0010 | 0/0 | 479 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| t0011 | 0/0 | 479 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| ghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| g0008 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| g0018 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| g0023 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| g0024 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| g0037 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| achapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 1110 | 16 | 1 | 4 | 10 | 1 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| a0001c0002 | 0/0 | 1110 | 9 | 5 | 0 | 4 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| a0001c0011 | 0/0 | 1110 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| a0002c0004 | 0/0 | 1110 | 3 | 0 | 0 | 3 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| a0002c0005 | 0/0 | 1110 | 2 | 0 | 1 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| a0002c0008 | 0/0 | 1110 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| a0003c0003 | 0/0 | 1110 | 3 | 0 | 1 | 2 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| a0004c0006 | 0/0 | 1110 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| a0004c0012 | 0/0 | 1110 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| a0005c0009 | 0/0 | 1110 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| a0006c0007 | 0/0 | 1110 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| a0007c0010 | 0/0 | 1110 | 1 | 0 | 0 | 0 | 1 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 1588 | 15 | 1 | 4 | 9 | 1 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| a0001c0001t0009 | 0/0 | 1588 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| a0001c0002t0001 | 0/0 | 1588 | 8 | 4 | 0 | 4 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| a0001c0002t0002 | 0/0 | 1588 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| a0001c0011t0010 | 0/0 | 1588 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| a0002c0004t0001 | 0/0 | 1588 | 3 | 0 | 0 | 3 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| a0002c0005t0004 | 0/0 | 1569 | 1 | 0 | 1 | 0 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| a0002c0005t0005 | 0/0 | 1569 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| a0002c0008t0007 | 0/0 | 1587 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| a0003c0003t0002 | 0/0 | 1588 | 3 | 0 | 1 | 2 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| a0004c0006t0003 | 0/0 | 1588 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| a0004c0012t0011 | 0/0 | 1588 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| a0005c0009t0008 | 0/0 | 1588 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| a0006c0007t0003 | 0/0 | 1588 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| a0007c0010t0006 | 0/0 | 1587 | 1 | 0 | 0 | 0 | 1 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | copy fasta | chr16 | 18312919 | 18341736 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| a0001c0001t0001g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| a0001c0001t0001g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| a0001c0001t0001g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| a0001c0001t0001g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| a0001c0001t0001g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| a0001c0001t0001g0018 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| a0001c0001t0001g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| a0001c0001t0001g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| a0001c0001t0001g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| a0001c0001t0001g0023 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| a0001c0001t0001g0024 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| a0001c0001t0001g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| a0001c0001t0001g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| a0001c0001t0009g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| a0001c0002t0001g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| a0001c0002t0001g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| a0001c0002t0001g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| a0001c0002t0001g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| a0001c0002t0001g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| a0001c0002t0001g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| a0001c0002t0001g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| a0001c0002t0001g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| a0001c0002t0002g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| a0001c0011t0010g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| a0002c0004t0001g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| a0002c0004t0001g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| a0002c0004t0001g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| a0002c0005t0004g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| a0002c0005t0005g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| a0002c0008t0007g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| a0003c0003t0002g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| a0003c0003t0002g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| a0003c0003t0002g0008 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| a0004c0006t0003g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| a0004c0012t0011g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| a0005c0009t0008g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| a0006c0007t0003g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| a0007c0010t0006g0037 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00558 | hp1 | a0001 | c0001 | t0001 | g0017 | EAS | CHS | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| HG00558 | hp2 | a0003 | c0003 | t0002 | g0007 | EAS | CHS | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| HG00609 | hp1 | a0001 | c0001 | t0001 | g0020 | EAS | CHS | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| HG00609 | hp2 | a0004 | c0006 | t0003 | g0039 | EAS | CHS | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| HG00639 | hp1 | a0001 | c0001 | t0001 | g0030 | AMR | PUR | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| HG00639 | hp2 | a0002 | c0005 | t0004 | g0032 | AMR | PUR | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| HG01071 | hp1 | a0001 | c0001 | t0001 | g0018 | AMR | PUR | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| HG01071 | hp2 | a0001 | c0001 | t0001 | g0025 | AMR | PUR | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| HG01517 | hp1 | a0001 | c0001 | t0001 | g0024 | EUR | IBS | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| HG01517 | hp2 | a0007 | c0010 | t0006 | g0037 | EUR | IBS | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| HG01884 | hp1 | a0001 | c0002 | t0001 | g0029 | AFR | ACB | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| HG01884 | hp2 | a0005 | c0009 | t0008 | g0009 | AFR | ACB | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| HG02155 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | CDX | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| HG02155 | hp2 | a0001 | c0001 | t0009 | g0013 | EAS | CDX | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| HG02165 | hp1 | a0001 | c0002 | t0001 | g0003 | EAS | CDX | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| HG02165 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | CDX | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| HG02273 | hp1 | a0001 | c0001 | t0001 | g0023 | AMR | PEL | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| HG02273 | hp2 | a0003 | c0003 | t0002 | g0008 | AMR | PEL | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| HG02896 | hp1 | a0001 | c0002 | t0001 | g0034 | AFR | GWD | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| HG02896 | hp2 | a0001 | c0011 | t0010 | g0004 | AFR | GWD | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| NA18950 | hp1 | a0002 | c0004 | t0001 | g0036 | EAS | JPT | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| NA18950 | hp2 | a0003 | c0003 | t0002 | g0006 | EAS | JPT | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| NA18978 | hp1 | a0001 | c0002 | t0001 | g0026 | EAS | JPT | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| NA18978 | hp2 | a0001 | c0001 | t0001 | g0016 | EAS | JPT | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| NA18980 | hp1 | a0002 | c0004 | t0001 | g0027 | EAS | JPT | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| NA18980 | hp2 | a0001 | c0001 | t0001 | g0015 | EAS | JPT | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| NA18982 | hp1 | a0006 | c0007 | t0003 | g0038 | EAS | JPT | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| NA18982 | hp2 | a0004 | c0012 | t0011 | g0012 | EAS | JPT | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| NA19010 | hp1 | a0002 | c0004 | t0001 | g0031 | EAS | JPT | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| NA19010 | hp2 | a0002 | c0005 | t0005 | g0033 | EAS | JPT | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| NA19012 | hp1 | a0001 | c0001 | t0001 | g0011 | EAS | JPT | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| NA19012 | hp2 | a0001 | c0001 | t0001 | g0021 | EAS | JPT | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| NA19064 | hp1 | a0001 | c0001 | t0001 | g0022 | EAS | JPT | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| NA19064 | hp2 | a0001 | c0002 | t0001 | g0014 | EAS | JPT | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| NA19084 | hp1 | a0001 | c0002 | t0001 | g0019 | EAS | JPT | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| NA19084 | hp2 | a0002 | c0008 | t0007 | g0010 | EAS | JPT | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| HG02109 | hp1 | a0001 | c0002 | t0002 | g0028 | AFR | ACB | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| HG02109 | hp2 | a0001 | c0002 | t0001 | g0002 | AFR | ACB | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| HG02559 | hp1 | a0001 | c0001 | t0001 | g0005 | AFR | ACB | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| HG02559 | hp2 | a0001 | c0002 | t0001 | g0035 | AFR | ACB | NPIPA8_chr16_18312919_18341736 | NPIPA8 | chr16 | 18312919 | 18341736 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr16:18317921
|
A | T | 1 | a0007 | 1 | HG01517.hp2 | splice_region_variant | LOW | c.*47T>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 10/10 | chr16 | 18317921 | ||||||
| chr16:18318003
|
A | C | 1 | a0007 | 1 | HG01517.hp2 | missense_variant | MODERATE | c.1075T>G | p.Phe359Val | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 10/10 | 1504/1588 | 1075/1110 | 359/369 | chr16 | 18318003 | ||
| chr16:18321084
|
C | T | 3 | a0002a0003a0007 | 10 | HG00558.hp2 HG00639.hp2 HG01517.hp2 others(7): Show |
missense_variant | MODERATE | c.478G>A | p.Glu160Lys | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 7/10 | 907/1588 | 478/1110 | 160/369 | chr16 | 18321084 | ||
| chr16:18321090
|
T | C | 4 | a0002a0003a0006others(1): Show | 11 | HG00558.hp2 HG00639.hp2 HG01517.hp2 others(8): Show |
missense_variant | MODERATE | c.472A>G | p.Arg158Gly | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 7/10 | 901/1588 | 472/1110 | 158/369 | chr16 | 18321090 | ||
| chr16:18324414
|
G | A | 3 | a0002a0005a0007 | 8 | HG00639.hp2 HG01517.hp2 HG01884.hp2 others(5): Show |
missense_variant | MODERATE | c.277C>T | p.Arg93Cys | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 5/10 | 706/1588 | 277/1110 | 93/369 | chr16 | 18324414 | ||
| chr16:18324473
|
G | C | 1 | a0007 | 1 | HG01517.hp2 | missense_variant | MODERATE | c.218C>G | p.Pro73Arg | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 5/10 | 647/1588 | 218/1110 | 73/369 | chr16 | 18324473 | ||
| chr16:18332619
|
G | T | 5 | a0002a0004a0005others(2): Show | 11 | HG00609.hp2 HG00639.hp2 HG01517.hp2 others(8): Show |
missense_variant | MODERATE | c.44C>A | p.Thr15Lys | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/10 | 473/1588 | 44/1110 | 15/369 | chr16 | 18332619 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr16:18318004
|
G | A | 1 | a0007c0010 | 1 | HG01517.hp2 | synonymous_variant | LOW | c.1074C>T | p.Pro358Pro | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 10/10 | 1503/1588 | 1074/1110 | 358/369 | chr16 | 18318004 | ||
| chr16:18318025
|
A | G | 2 | a0002c0008a0007c0010 | 2 | HG01517.hp2 NA19084.hp2 |
synonymous_variant | LOW | c.1053T>C | p.Pro351Pro | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 10/10 | 1482/1588 | 1053/1110 | 351/369 | chr16 | 18318025 | ||
| chr16:18319976
|
C | A | 3 | a0001c0001a0004c0006a0006c0007 | 18 | HG00558.hp1 HG00609.hp1 HG00609.hp2 others(15): Show |
synonymous_variant | LOW | c.570G>T | p.Ala190Ala | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 8/10 | 999/1588 | 570/1110 | 190/369 | chr16 | 18319976 | ||
| chr16:18321097
|
A | G | 2 | a0002c0008a0007c0010 | 2 | HG01517.hp2 NA19084.hp2 |
synonymous_variant | LOW | c.465T>C | p.Arg155Arg | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 7/10 | 894/1588 | 465/1110 | 155/369 | chr16 | 18321097 | ||
| chr16:18324472
|
T | C | 3 | a0002c0005a0002c0008a0005c0009 | 4 | HG00639.hp2 HG01884.hp2 NA19010.hp2 others(1): Show |
synonymous_variant | LOW | c.219A>G | p.Pro73Pro | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 5/10 | 648/1588 | 219/1110 | 73/369 | chr16 | 18324472 | ||
| chr16:18324478
|
G | A | 1 | a0001c0011 | 1 | HG02896.hp2 | synonymous_variant | LOW | c.213C>T | p.Ile71Ile | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 5/10 | 642/1588 | 213/1110 | 71/369 | chr16 | 18324478 | ||
| chr16:18332630
|
G | A | 2 | a0002c0004a0004c0012 | 4 | NA18950.hp1 NA18980.hp1 NA18982.hp2 others(1): Show |
synonymous_variant | LOW | c.33C>T | p.Ser11Ser | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/10 | 462/1588 | 33/1110 | 11/369 | chr16 | 18332630 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr16:18332673
|
C | T | 3 | a0002c0008t0007a0005c0009t0008a0007c0010t0006 | 3 | HG01517.hp2 HG01884.hp2 NA19084.hp2 |
5_prime_UTR_variant | MODIFIER | c.-11G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/10 | 11 | chr16 | 18332673 | |||||
| chr16:18334745
|
C | T | 2 | a0002c0005t0004a0002c0005t0005 | 2 | HG00639.hp2 NA19010.hp2 |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-104G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/10 | chr16 | 18334745 | ||||||
| chr16:18334779
|
T | C | 1 | a0001c0011t0010 | 1 | HG02896.hp2 | 5_prime_UTR_variant | MODIFIER | c.-138A>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/10 | 2117 | chr16 | 18334779 | |||||
| chr16:18334779
|
T | G | 2 | a0002c0005t0004a0002c0005t0005 | 2 | HG00639.hp2 NA19010.hp2 |
5_prime_UTR_variant | MODIFIER | c.-138A>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/10 | 2117 | chr16 | 18334779 | |||||
| chr16:18334784
|
G | T | 2 | a0002c0005t0004a0002c0005t0005 | 2 | HG00639.hp2 NA19010.hp2 |
5_prime_UTR_variant | MODIFIER | c.-143C>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/10 | 2122 | chr16 | 18334784 | |||||
| chr16:18334807
|
GCAGGACC others(12): Show |
G | 2 | a0002c0005t0004a0002c0005t0005 | 2 | HG00639.hp2 NA19010.hp2 |
5_prime_UTR_variant | MODIFIER | c.-185_-167delGGCTGG others(13): Show |
NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/10 | 2146 | chr16 | 18334807 | |||||
| chr16:18334824
|
GC | G | 2 | a0002c0008t0007a0007c0010t0006 | 2 | HG01517.hp2 NA19084.hp2 |
5_prime_UTR_variant | MODIFIER | c.-184delG | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/10 | 2163 | chr16 | 18334824 | |||||
| chr16:18334867
|
G | T | 1 | a0001c0001t0009 | 1 | HG02155.hp2 | 5_prime_UTR_variant | MODIFIER | c.-226C>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/10 | 2205 | chr16 | 18334867 | |||||
| chr16:18334899
|
C | T | 2 | a0002c0005t0004a0002c0005t0005 | 2 | HG00639.hp2 NA19010.hp2 |
5_prime_UTR_variant | MODIFIER | c.-258G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/10 | 2237 | chr16 | 18334899 | |||||
| chr16:18334919
|
T | C | 1 | a0002c0005t0005 | 1 | NA19010.hp2 | 5_prime_UTR_variant | MODIFIER | c.-278A>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/10 | 2257 | chr16 | 18334919 | |||||
| chr16:18334919
|
T | G | 1 | a0002c0005t0004 | 1 | HG00639.hp2 | 5_prime_UTR_variant | MODIFIER | c.-278A>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/10 | 2257 | chr16 | 18334919 | |||||
| chr16:18334931
|
A | G | 9 | a0001c0002t0002a0002c0005t0004a0002c0005t0005others(6): Show | 11 | HG00558.hp2 HG00609.hp2 HG00639.hp2 others(8): Show |
5_prime_UTR_variant | MODIFIER | c.-290T>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/10 | 2269 | chr16 | 18334931 | |||||
| chr16:18334938
|
G | A | 1 | a0004c0012t0011 | 1 | NA18982.hp2 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-297C>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/10 | chr16 | 18334938 | ||||||
| chr16:18334954
|
A | G | 4 | a0002c0005t0004a0002c0005t0005a0004c0006t0003others(1): Show | 4 | HG00609.hp2 HG00639.hp2 NA18982.hp1 others(1): Show |
5_prime_UTR_variant | MODIFIER | c.-313T>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/10 | 2292 | chr16 | 18334954 | |||||
| chr16:18336651
|
G | A | 2 | a0004c0006t0003a0006c0007t0003 | 2 | HG00609.hp2 NA18982.hp1 |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-344C>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/10 | chr16 | 18336651 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr16:18318638
|
T | C | 2 | a0002c0008t0007g0010a0007c0010t0006g0037 | 2 | HG01517.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.643-203A>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 9/9 | chr16 | 18318638 | ||||||
| chr16:18318743
|
G | A | 1 | a0003c0003t0002g0006 | 1 | NA18950.hp2 | intron_variant | MODIFIER | c.643-308C>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 9/9 | chr16 | 18318743 | ||||||
| chr16:18319360
|
G | GT | 2 | a0002c0008t0007g0010a0007c0010t0006g0037 | 2 | HG01517.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.642+434dupA | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 9/9 | chr16 | 18319360 | ||||||
| chr16:18319402
|
C | T | 1 | a0005c0009t0008g0009 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.642+393G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 9/9 | chr16 | 18319402 | ||||||
| chr16:18319567
|
G | A | 1 | a0001c0002t0001g0029 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.642+228C>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 9/9 | chr16 | 18319567 | ||||||
| chr16:18319638
|
A | G | 6 | a0002c0008t0007g0010a0003c0003t0002g0006a0003c0003t0002g0007others(3): Show | 6 | HG00558.hp2 HG01517.hp2 HG01884.hp2 others(3): Show |
intron_variant | MODIFIER | c.642+157T>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 9/9 | chr16 | 18319638 | ||||||
| chr16:18319722
|
G | A | 1 | a0001c0001t0001g0030 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.642+73C>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 9/9 | chr16 | 18319722 | ||||||
| chr16:18320264
|
T | G | 2 | a0002c0008t0007g0010a0007c0010t0006g0037 | 2 | HG01517.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.546-264A>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 7/9 | chr16 | 18320264 | ||||||
| chr16:18320291
|
C | T | 1 | a0004c0006t0003g0039 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.546-291G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 7/9 | chr16 | 18320291 | ||||||
| chr16:18320300
|
T | G | 2 | a0002c0008t0007g0010a0007c0010t0006g0037 | 2 | HG01517.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.546-300A>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 7/9 | chr16 | 18320300 | ||||||
| chr16:18320367
|
G | A | 2 | a0002c0008t0007g0010a0007c0010t0006g0037 | 2 | HG01517.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.546-367C>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 7/9 | chr16 | 18320367 | ||||||
| chr16:18320466
|
A | C | 2 | a0003c0003t0002g0006a0003c0003t0002g0007 | 2 | HG00558.hp2 NA18950.hp2 |
intron_variant | MODIFIER | c.546-466T>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 7/9 | chr16 | 18320466 | ||||||
| chr16:18320522
|
C | A | 1 | a0007c0010t0006g0037 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.545+495G>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 7/9 | chr16 | 18320522 | ||||||
| chr16:18321163
|
A | C | 23 | a0001c0001t0001g0005a0001c0001t0001g0011a0001c0001t0001g0015others(20): Show | 23 | HG00558.hp2 HG00609.hp2 HG00639.hp1 others(20): Show |
intron_variant | MODIFIER | c.438-39T>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18321163 | ||||||
| chr16:18321201
|
CTG | C | 7 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(4): Show | 7 | HG00639.hp2 HG01517.hp2 NA18950.hp1 others(4): Show |
intron_variant | MODIFIER | c.438-79_438-78delCA | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18321201 | ||||||
| chr16:18321261
|
T | C | 7 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(4): Show | 7 | HG00639.hp2 HG01517.hp2 NA18950.hp1 others(4): Show |
intron_variant | MODIFIER | c.438-137A>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18321261 | ||||||
| chr16:18321267
|
G | A | 6 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(3): Show | 6 | HG00639.hp2 HG01517.hp2 NA18950.hp1 others(3): Show |
intron_variant | MODIFIER | c.438-143C>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18321267 | ||||||
| chr16:18321292
|
A | AC | 7 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(4): Show | 7 | HG00639.hp2 HG01517.hp2 NA18950.hp1 others(4): Show |
intron_variant | MODIFIER | c.438-169_438-168ins others(1): Show |
NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18321292 | ||||||
| chr16:18321293
|
T | A | 7 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(4): Show | 7 | HG00639.hp2 HG01517.hp2 NA18950.hp1 others(4): Show |
intron_variant | MODIFIER | c.438-169A>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18321293 | ||||||
| chr16:18321434
|
G | T | 1 | a0001c0011t0010g0004 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.438-310C>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18321434 | ||||||
| chr16:18321550
|
C | T | 2 | a0002c0008t0007g0010a0007c0010t0006g0037 | 2 | HG01517.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.438-426G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18321550 | ||||||
| chr16:18321782
|
G | A | 8 | a0001c0002t0001g0029a0002c0004t0001g0027a0002c0004t0001g0031others(5): Show | 8 | HG00639.hp2 HG01517.hp2 HG01884.hp1 others(5): Show |
intron_variant | MODIFIER | c.438-658C>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18321782 | ||||||
| chr16:18321854
|
A | C | 1 | a0001c0001t0001g0016 | 1 | NA18978.hp2 | intron_variant | MODIFIER | c.438-730T>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18321854 | ||||||
| chr16:18321854
|
A | G | 8 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(5): Show | 8 | HG00639.hp2 HG01517.hp2 NA18950.hp1 others(5): Show |
intron_variant | MODIFIER | c.438-730T>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18321854 | ||||||
| chr16:18322023
|
A | T | 5 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(2): Show | 5 | HG00639.hp2 NA18950.hp1 NA18980.hp1 others(2): Show |
intron_variant | MODIFIER | c.438-899T>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18322023 | ||||||
| chr16:18322036
|
A | C | 3 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036 | 3 | NA18950.hp1 NA18980.hp1 NA19010.hp1 |
intron_variant | MODIFIER | c.438-912T>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18322036 | ||||||
| chr16:18322108
|
A | T | 7 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(4): Show | 7 | HG00639.hp2 HG01517.hp2 NA18950.hp1 others(4): Show |
intron_variant | MODIFIER | c.438-984T>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18322108 | ||||||
| chr16:18322206
|
T | G | 6 | a0001c0001t0001g0030a0002c0004t0001g0027a0002c0004t0001g0031others(3): Show | 6 | HG00639.hp1 HG00639.hp2 NA18950.hp1 others(3): Show |
intron_variant | MODIFIER | c.438-1082A>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18322206 | ||||||
| chr16:18322263
|
A | G | 1 | a0005c0009t0008g0009 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.438-1139T>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18322263 | ||||||
| chr16:18322359
|
A | C | 8 | a0001c0002t0001g0002a0001c0002t0001g0003a0001c0011t0010g0004others(5): Show | 8 | HG00639.hp2 HG01517.hp2 HG02109.hp2 others(5): Show |
intron_variant | MODIFIER | c.438-1235T>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18322359 | ||||||
| chr16:18322677
|
T | C | 2 | a0001c0002t0001g0002a0001c0011t0010g0004 | 2 | HG02109.hp2 HG02896.hp2 |
intron_variant | MODIFIER | c.437+1414A>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18322677 | ||||||
| chr16:18322911
|
C | T | 7 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(4): Show | 7 | HG00639.hp2 HG01517.hp2 NA18950.hp1 others(4): Show |
intron_variant | MODIFIER | c.437+1180G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18322911 | ||||||
| chr16:18323022
|
C | T | 5 | a0001c0001t0001g0005a0001c0001t0001g0011a0001c0001t0001g0015others(2): Show | 5 | HG00609.hp2 HG02559.hp1 NA18980.hp2 others(2): Show |
intron_variant | MODIFIER | c.437+1069G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18323022 | ||||||
| chr16:18323101
|
C | T | 7 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(4): Show | 7 | HG00639.hp2 HG01517.hp2 NA18950.hp1 others(4): Show |
intron_variant | MODIFIER | c.437+990G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18323101 | ||||||
| chr16:18323108
|
G | A | 1 | a0004c0012t0011g0012 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.437+983C>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18323108 | ||||||
| chr16:18323114
|
G | T | 7 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(4): Show | 7 | HG00639.hp2 HG01517.hp2 NA18950.hp1 others(4): Show |
intron_variant | MODIFIER | c.437+977C>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18323114 | ||||||
| chr16:18323171
|
C | T | 5 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(2): Show | 5 | HG00639.hp2 NA18950.hp1 NA18980.hp1 others(2): Show |
intron_variant | MODIFIER | c.437+920G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18323171 | ||||||
| chr16:18323278
|
A | G | 7 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(4): Show | 7 | HG00639.hp2 HG01517.hp2 NA18950.hp1 others(4): Show |
intron_variant | MODIFIER | c.437+813T>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18323278 | ||||||
| chr16:18323305
|
C | T | 7 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(4): Show | 7 | HG00639.hp2 HG01517.hp2 NA18950.hp1 others(4): Show |
intron_variant | MODIFIER | c.437+786G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18323305 | ||||||
| chr16:18323337
|
C | T | 7 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(4): Show | 7 | HG00639.hp2 HG01517.hp2 NA18950.hp1 others(4): Show |
intron_variant | MODIFIER | c.437+754G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18323337 | ||||||
| chr16:18323338
|
G | A | 1 | a0001c0002t0001g0003 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.437+753C>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18323338 | ||||||
| chr16:18323342
|
C | CA | 6 | a0001c0001t0001g0024a0001c0001t0001g0030a0001c0002t0001g0029others(3): Show | 6 | HG00609.hp2 HG00639.hp1 HG01517.hp1 others(3): Show |
intron_variant | MODIFIER | c.437+748dupT | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18323342 | ||||||
| chr16:18323342
|
C | CAA | 7 | a0001c0002t0001g0002a0001c0002t0001g0003a0001c0002t0001g0035others(4): Show | 7 | HG00558.hp2 HG01884.hp2 HG02109.hp2 others(4): Show |
intron_variant | MODIFIER | c.437+747_437+748dup others(2): Show |
NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18323342 | ||||||
| chr16:18323342
|
CA | C | 4 | a0002c0004t0001g0027a0002c0004t0001g0036a0002c0005t0004g0032others(1): Show | 4 | HG00639.hp2 HG01517.hp2 NA18950.hp1 others(1): Show |
intron_variant | MODIFIER | c.437+748delT | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18323342 | ||||||
| chr16:18323381
|
C | T | 7 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(4): Show | 7 | HG00639.hp2 HG01517.hp2 NA18950.hp1 others(4): Show |
intron_variant | MODIFIER | c.437+710G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18323381 | ||||||
| chr16:18323382
|
G | A | 2 | a0001c0001t0001g0011a0006c0007t0003g0038 | 2 | NA18982.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.437+709C>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18323382 | ||||||
| chr16:18323416
|
T | C | 7 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(4): Show | 7 | HG00639.hp2 HG01517.hp2 NA18950.hp1 others(4): Show |
intron_variant | MODIFIER | c.437+675A>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18323416 | ||||||
| chr16:18323417
|
G | A | 6 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(3): Show | 6 | HG00639.hp2 HG01517.hp2 NA18950.hp1 others(3): Show |
intron_variant | MODIFIER | c.437+674C>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18323417 | ||||||
| chr16:18323466
|
T | C | 1 | a0001c0011t0010g0004 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.437+625A>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18323466 | ||||||
| chr16:18323474
|
C | T | 7 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(4): Show | 7 | HG00639.hp2 HG01517.hp2 NA18950.hp1 others(4): Show |
intron_variant | MODIFIER | c.437+617G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18323474 | ||||||
| chr16:18323518
|
TA | T | 5 | a0001c0002t0001g0002a0001c0002t0001g0003a0001c0002t0001g0019others(2): Show | 5 | HG02109.hp2 HG02165.hp1 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.437+572delT | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18323518 | ||||||
| chr16:18323536
|
GGCTGGGT | G | 5 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(2): Show | 5 | HG00639.hp2 NA18950.hp1 NA18980.hp1 others(2): Show |
intron_variant | MODIFIER | c.437+548_437+554del others(7): Show |
NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18323536 | ||||||
| chr16:18323538
|
CTGGGTG | C | 2 | a0002c0008t0007g0010a0007c0010t0006g0037 | 2 | HG01517.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.437+547_437+552del others(6): Show |
NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18323538 | ||||||
| chr16:18323544
|
G | C | 5 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(2): Show | 5 | HG00639.hp2 NA18950.hp1 NA18980.hp1 others(2): Show |
intron_variant | MODIFIER | c.437+547C>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18323544 | ||||||
| chr16:18323563
|
G | A | 5 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(2): Show | 5 | HG00639.hp2 NA18950.hp1 NA18980.hp1 others(2): Show |
intron_variant | MODIFIER | c.437+528C>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18323563 | ||||||
| chr16:18323622
|
C | T | 1 | a0004c0012t0011g0012 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.437+469G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18323622 | ||||||
| chr16:18323627
|
T | C | 7 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(4): Show | 7 | HG00639.hp2 HG01517.hp2 NA18950.hp1 others(4): Show |
intron_variant | MODIFIER | c.437+464A>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18323627 | ||||||
| chr16:18323631
|
C | T | 7 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(4): Show | 7 | HG00639.hp2 HG01517.hp2 NA18950.hp1 others(4): Show |
intron_variant | MODIFIER | c.437+460G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18323631 | ||||||
| chr16:18323642
|
T | C | 1 | a0001c0002t0001g0029 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.437+449A>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18323642 | ||||||
| chr16:18323656
|
A | C | 7 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(4): Show | 7 | HG00639.hp2 HG01517.hp2 NA18950.hp1 others(4): Show |
intron_variant | MODIFIER | c.437+435T>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18323656 | ||||||
| chr16:18323686
|
A | G | 8 | a0001c0002t0001g0002a0002c0004t0001g0027a0002c0004t0001g0031others(5): Show | 8 | HG00639.hp2 HG01517.hp2 HG02109.hp2 others(5): Show |
intron_variant | MODIFIER | c.437+405T>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18323686 | ||||||
| chr16:18323686
|
A | T | 3 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0020 | 3 | HG00558.hp1 HG00609.hp1 NA18978.hp2 |
intron_variant | MODIFIER | c.437+405T>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18323686 | ||||||
| chr16:18323763
|
T | C | 7 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(4): Show | 7 | HG00639.hp2 HG01517.hp2 NA18950.hp1 others(4): Show |
intron_variant | MODIFIER | c.437+328A>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18323763 | ||||||
| chr16:18323780
|
A | C | 7 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(4): Show | 7 | HG00639.hp2 HG01517.hp2 NA18950.hp1 others(4): Show |
intron_variant | MODIFIER | c.437+311T>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18323780 | ||||||
| chr16:18323784
|
G | A | 7 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(4): Show | 7 | HG00639.hp2 HG01517.hp2 NA18950.hp1 others(4): Show |
intron_variant | MODIFIER | c.437+307C>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18323784 | ||||||
| chr16:18323786
|
A | G | 7 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(4): Show | 7 | HG00639.hp2 HG01517.hp2 NA18950.hp1 others(4): Show |
intron_variant | MODIFIER | c.437+305T>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18323786 | ||||||
| chr16:18323809
|
C | T | 7 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(4): Show | 7 | HG00639.hp2 HG01517.hp2 NA18950.hp1 others(4): Show |
intron_variant | MODIFIER | c.437+282G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18323809 | ||||||
| chr16:18323814
|
C | T | 7 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(4): Show | 7 | HG00639.hp2 HG01517.hp2 NA18950.hp1 others(4): Show |
intron_variant | MODIFIER | c.437+277G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18323814 | ||||||
| chr16:18323819
|
G | GGAAAAAA others(3): Show |
1 | a0004c0012t0011g0012 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.437+271_437+272ins others(10): Show |
NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18323819 | ||||||
| chr16:18323819
|
GAAAAAAA others(1): Show |
G | 7 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(4): Show | 7 | HG00639.hp2 HG01517.hp2 NA18950.hp1 others(4): Show |
intron_variant | MODIFIER | c.437+264_437+271del others(8): Show |
NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18323819 | ||||||
| chr16:18323819
|
GAAAAAAA others(4): Show |
G | 1 | a0001c0002t0001g0029 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.437+261_437+271del others(11): Show |
NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18323819 | ||||||
| chr16:18323841
|
A | G | 2 | a0002c0008t0007g0010a0007c0010t0006g0037 | 2 | HG01517.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.437+250T>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18323841 | ||||||
| chr16:18323843
|
A | G | 7 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(4): Show | 7 | HG00639.hp2 HG01517.hp2 NA18950.hp1 others(4): Show |
intron_variant | MODIFIER | c.437+248T>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18323843 | ||||||
| chr16:18323845
|
A | G | 7 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(4): Show | 7 | HG00639.hp2 HG01517.hp2 NA18950.hp1 others(4): Show |
intron_variant | MODIFIER | c.437+246T>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18323845 | ||||||
| chr16:18323847
|
A | AAAAAAAA others(3): Show |
1 | a0003c0003t0002g0006 | 1 | NA18950.hp2 | intron_variant | MODIFIER | c.437+243_437+244ins others(10): Show |
NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18323847 | ||||||
| chr16:18323847
|
A | G | 13 | a0001c0002t0001g0002a0001c0002t0001g0003a0001c0002t0001g0034others(10): Show | 13 | HG00639.hp2 HG01517.hp2 HG01884.hp2 others(10): Show |
intron_variant | MODIFIER | c.437+244T>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18323847 | ||||||
| chr16:18323966
|
A | G | 7 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(4): Show | 7 | HG00639.hp2 HG01517.hp2 NA18950.hp1 others(4): Show |
intron_variant | MODIFIER | c.437+125T>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 6/9 | chr16 | 18323966 | ||||||
| chr16:18324275
|
T | C | 8 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(5): Show | 8 | HG00639.hp2 HG01517.hp2 HG01884.hp2 others(5): Show |
intron_variant | MODIFIER | c.293-40A>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 5/9 | chr16 | 18324275 | ||||||
| chr16:18324280
|
T | C | 8 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(5): Show | 8 | HG00639.hp2 HG01517.hp2 HG01884.hp2 others(5): Show |
intron_variant | MODIFIER | c.293-45A>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 5/9 | chr16 | 18324280 | ||||||
| chr16:18324573
|
G | A | 2 | a0002c0008t0007g0010a0007c0010t0006g0037 | 2 | HG01517.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.193-75C>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18324573 | ||||||
| chr16:18324578
|
A | AG | 8 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(5): Show | 8 | HG00639.hp2 HG01517.hp2 HG01884.hp2 others(5): Show |
intron_variant | MODIFIER | c.193-81dupC | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18324578 | ||||||
| chr16:18324602
|
G | C | 19 | a0001c0001t0001g0030a0001c0002t0001g0002a0001c0002t0001g0003others(16): Show | 19 | HG00558.hp2 HG00639.hp1 HG00639.hp2 others(16): Show |
intron_variant | MODIFIER | c.193-104C>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18324602 | ||||||
| chr16:18324634
|
G | A | 8 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(5): Show | 8 | HG00639.hp2 HG01517.hp2 HG01884.hp2 others(5): Show |
intron_variant | MODIFIER | c.193-136C>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18324634 | ||||||
| chr16:18324735
|
C | T | 8 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(5): Show | 8 | HG00639.hp2 HG01517.hp2 HG01884.hp2 others(5): Show |
intron_variant | MODIFIER | c.193-237G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18324735 | ||||||
| chr16:18324740
|
T | G | 8 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(5): Show | 8 | HG00639.hp2 HG01517.hp2 HG01884.hp2 others(5): Show |
intron_variant | MODIFIER | c.193-242A>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18324740 | ||||||
| chr16:18324755
|
G | A | 1 | a0002c0004t0001g0036 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.193-257C>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18324755 | ||||||
| chr16:18324782
|
C | T | 8 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(5): Show | 8 | HG00639.hp2 HG01517.hp2 HG01884.hp2 others(5): Show |
intron_variant | MODIFIER | c.193-284G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18324782 | ||||||
| chr16:18324800
|
T | TCA | 3 | a0001c0001t0001g0024a0001c0002t0002g0028a0003c0003t0002g0007 | 3 | HG00558.hp2 HG01517.hp1 HG02109.hp1 |
intron_variant | MODIFIER | c.193-304_193-303dup others(2): Show |
NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18324800 | ||||||
| chr16:18324800
|
TCA | T | 4 | a0001c0002t0001g0035a0001c0011t0010g0004a0003c0003t0002g0006others(1): Show | 4 | HG02273.hp2 HG02559.hp2 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.193-304_193-303del others(2): Show |
NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18324800 | ||||||
| chr16:18324800
|
TCACACA | T | 3 | a0001c0002t0001g0002a0001c0002t0001g0003a0004c0012t0011g0012 | 3 | HG02109.hp2 HG02165.hp1 NA18982.hp2 |
intron_variant | MODIFIER | c.193-308_193-303del others(6): Show |
NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18324800 | ||||||
| chr16:18324828
|
ACACAC | A | 2 | a0002c0008t0007g0010a0007c0010t0006g0037 | 2 | HG01517.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.193-335_193-331del others(5): Show |
NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18324828 | ||||||
| chr16:18324835
|
C | CA | 4 | a0002c0004t0001g0031a0002c0004t0001g0036a0002c0005t0004g0032others(1): Show | 4 | HG00639.hp2 NA18950.hp1 NA19010.hp1 others(1): Show |
intron_variant | MODIFIER | c.193-338dupT | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18324835 | ||||||
| chr16:18324839
|
CA | C | 3 | a0002c0008t0007g0010a0005c0009t0008g0009a0007c0010t0006g0037 | 3 | HG01517.hp2 HG01884.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.193-342delT | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18324839 | ||||||
| chr16:18324840
|
A | AC | 5 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(2): Show | 5 | HG00639.hp2 NA18950.hp1 NA18980.hp1 others(2): Show |
intron_variant | MODIFIER | c.193-343_193-342ins others(1): Show |
NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18324840 | ||||||
| chr16:18324862
|
G | T | 8 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(5): Show | 8 | HG00639.hp2 HG01517.hp2 HG01884.hp2 others(5): Show |
intron_variant | MODIFIER | c.193-364C>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18324862 | ||||||
| chr16:18324887
|
T | C | 8 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(5): Show | 8 | HG00639.hp2 HG01517.hp2 HG01884.hp2 others(5): Show |
intron_variant | MODIFIER | c.193-389A>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18324887 | ||||||
| chr16:18324914
|
A | C | 11 | a0001c0001t0001g0030a0001c0002t0001g0002a0001c0002t0001g0003others(8): Show | 11 | HG00558.hp2 HG00639.hp1 HG01884.hp1 others(8): Show |
intron_variant | MODIFIER | c.193-416T>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18324914 | ||||||
| chr16:18324924
|
C | T | 2 | a0001c0002t0001g0034a0001c0002t0001g0035 | 2 | HG02559.hp2 HG02896.hp1 |
intron_variant | MODIFIER | c.193-426G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18324924 | ||||||
| chr16:18324979
|
T | A | 8 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(5): Show | 8 | HG00639.hp2 HG01517.hp2 HG01884.hp2 others(5): Show |
intron_variant | MODIFIER | c.193-481A>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18324979 | ||||||
| chr16:18325027
|
G | A | 1 | a0001c0001t0001g0017 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.193-529C>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18325027 | ||||||
| chr16:18325028
|
C | G | 8 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(5): Show | 8 | HG00639.hp2 HG01517.hp2 HG01884.hp2 others(5): Show |
intron_variant | MODIFIER | c.193-530G>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18325028 | ||||||
| chr16:18325056
|
T | C | 8 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(5): Show | 8 | HG00639.hp2 HG01517.hp2 HG01884.hp2 others(5): Show |
intron_variant | MODIFIER | c.193-558A>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18325056 | ||||||
| chr16:18325076
|
G | T | 8 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(5): Show | 8 | HG00639.hp2 HG01517.hp2 HG01884.hp2 others(5): Show |
intron_variant | MODIFIER | c.193-578C>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18325076 | ||||||
| chr16:18325107
|
C | A | 7 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(4): Show | 7 | HG00639.hp2 HG01517.hp2 HG01884.hp2 others(4): Show |
intron_variant | MODIFIER | c.193-609G>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18325107 | ||||||
| chr16:18325134
|
CA | C | 7 | a0001c0002t0001g0003a0001c0002t0001g0034a0001c0011t0010g0004others(4): Show | 7 | HG00558.hp2 HG02165.hp1 HG02273.hp2 others(4): Show |
intron_variant | MODIFIER | c.193-637delT | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18325134 | ||||||
| chr16:18325165
|
T | G | 8 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(5): Show | 8 | HG00639.hp2 HG01517.hp2 HG01884.hp2 others(5): Show |
intron_variant | MODIFIER | c.193-667A>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18325165 | ||||||
| chr16:18325233
|
G | C | 1 | a0004c0012t0011g0012 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.193-735C>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18325233 | ||||||
| chr16:18325237
|
T | C | 7 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(4): Show | 7 | HG00639.hp2 HG01517.hp2 HG01884.hp2 others(4): Show |
intron_variant | MODIFIER | c.193-739A>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18325237 | ||||||
| chr16:18325302
|
G | A | 1 | a0001c0011t0010g0004 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.193-804C>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18325302 | ||||||
| chr16:18325304
|
C | G | 7 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(4): Show | 7 | HG00639.hp2 HG01517.hp2 HG01884.hp2 others(4): Show |
intron_variant | MODIFIER | c.193-806G>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18325304 | ||||||
| chr16:18325310
|
C | T | 1 | a0001c0002t0001g0029 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.193-812G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18325310 | ||||||
| chr16:18325328
|
G | C | 3 | a0002c0008t0007g0010a0005c0009t0008g0009a0007c0010t0006g0037 | 3 | HG01517.hp2 HG01884.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.193-830C>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18325328 | ||||||
| chr16:18325361
|
G | A | 7 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(4): Show | 7 | HG00639.hp2 HG01517.hp2 HG01884.hp2 others(4): Show |
intron_variant | MODIFIER | c.193-863C>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18325361 | ||||||
| chr16:18325372
|
G | T | 7 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(4): Show | 7 | HG00639.hp2 HG01517.hp2 HG01884.hp2 others(4): Show |
intron_variant | MODIFIER | c.193-874C>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18325372 | ||||||
| chr16:18325428
|
T | C | 10 | a0001c0001t0009g0013a0001c0002t0001g0003a0002c0004t0001g0027others(7): Show | 10 | HG00639.hp2 HG01517.hp2 HG01884.hp2 others(7): Show |
intron_variant | MODIFIER | c.193-930A>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18325428 | ||||||
| chr16:18325433
|
C | CA | 4 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0030others(1): Show | 4 | HG00639.hp1 HG01517.hp1 NA19010.hp2 others(1): Show |
intron_variant | MODIFIER | c.193-936dupT | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18325433 | ||||||
| chr16:18325433
|
CA | C | 5 | a0001c0001t0001g0005a0001c0011t0010g0004a0003c0003t0002g0006others(2): Show | 5 | HG00558.hp2 HG02559.hp1 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.193-936delT | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18325433 | ||||||
| chr16:18325433
|
CAAA | C | 5 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(2): Show | 5 | HG00639.hp2 HG01884.hp2 NA18950.hp1 others(2): Show |
intron_variant | MODIFIER | c.193-938_193-936del others(3): Show |
NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18325433 | ||||||
| chr16:18325569
|
GTAAT | G | 4 | a0001c0002t0001g0002a0001c0002t0001g0034a0001c0002t0001g0035others(1): Show | 4 | HG02109.hp2 HG02559.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.193-1075_193-1072d others(6): Show |
NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18325569 | ||||||
| chr16:18325730
|
C | T | 3 | a0002c0008t0007g0010a0005c0009t0008g0009a0007c0010t0006g0037 | 3 | HG01517.hp2 HG01884.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.193-1232G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18325730 | ||||||
| chr16:18326087
|
G | A | 3 | a0002c0008t0007g0010a0005c0009t0008g0009a0007c0010t0006g0037 | 3 | HG01517.hp2 HG01884.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.193-1589C>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18326087 | ||||||
| chr16:18326406
|
T | C | 1 | a0006c0007t0003g0038 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.192+1708A>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18326406 | ||||||
| chr16:18326517
|
G | T | 3 | a0002c0008t0007g0010a0005c0009t0008g0009a0007c0010t0006g0037 | 3 | HG01517.hp2 HG01884.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.192+1597C>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18326517 | ||||||
| chr16:18326572
|
T | C | 3 | a0002c0008t0007g0010a0005c0009t0008g0009a0007c0010t0006g0037 | 3 | HG01517.hp2 HG01884.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.192+1542A>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18326572 | ||||||
| chr16:18326619
|
A | G | 3 | a0002c0008t0007g0010a0005c0009t0008g0009a0007c0010t0006g0037 | 3 | HG01517.hp2 HG01884.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.192+1495T>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18326619 | ||||||
| chr16:18327177
|
T | C | 3 | a0002c0008t0007g0010a0005c0009t0008g0009a0007c0010t0006g0037 | 3 | HG01517.hp2 HG01884.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.192+937A>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18327177 | ||||||
| chr16:18327228
|
A | G | 3 | a0002c0008t0007g0010a0005c0009t0008g0009a0007c0010t0006g0037 | 3 | HG01517.hp2 HG01884.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.192+886T>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18327228 | ||||||
| chr16:18327250
|
G | C | 4 | a0001c0001t0001g0022a0001c0002t0001g0026a0002c0005t0004g0032others(1): Show | 4 | HG00639.hp2 NA18978.hp1 NA18982.hp1 others(1): Show |
intron_variant | MODIFIER | c.192+864C>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18327250 | ||||||
| chr16:18327305
|
A | T | 3 | a0002c0008t0007g0010a0005c0009t0008g0009a0007c0010t0006g0037 | 3 | HG01517.hp2 HG01884.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.192+809T>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18327305 | ||||||
| chr16:18327565
|
C | A | 3 | a0002c0008t0007g0010a0005c0009t0008g0009a0007c0010t0006g0037 | 3 | HG01517.hp2 HG01884.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.192+549G>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18327565 | ||||||
| chr16:18327568
|
C | T | 2 | a0001c0002t0001g0034a0001c0002t0001g0035 | 2 | HG02559.hp2 HG02896.hp1 |
intron_variant | MODIFIER | c.192+546G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18327568 | ||||||
| chr16:18327603
|
A | C | 3 | a0002c0008t0007g0010a0005c0009t0008g0009a0007c0010t0006g0037 | 3 | HG01517.hp2 HG01884.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.192+511T>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18327603 | ||||||
| chr16:18327812
|
T | C | 3 | a0002c0008t0007g0010a0005c0009t0008g0009a0007c0010t0006g0037 | 3 | HG01517.hp2 HG01884.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.192+302A>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18327812 | ||||||
| chr16:18327837
|
C | T | 4 | a0001c0011t0010g0004a0002c0008t0007g0010a0005c0009t0008g0009others(1): Show | 4 | HG01517.hp2 HG01884.hp2 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.192+277G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18327837 | ||||||
| chr16:18327842
|
T | C | 3 | a0002c0008t0007g0010a0005c0009t0008g0009a0007c0010t0006g0037 | 3 | HG01517.hp2 HG01884.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.192+272A>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18327842 | ||||||
| chr16:18327991
|
T | A | 1 | a0001c0002t0001g0002 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.192+123A>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18327991 | ||||||
| chr16:18328058
|
A | C | 1 | a0001c0002t0001g0002 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.192+56T>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4/9 | chr16 | 18328058 | ||||||
| chr16:18328595
|
A | ATT | 3 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036 | 3 | NA18950.hp1 NA18980.hp1 NA19010.hp1 |
intron_variant | MODIFIER | c.64-355_64-354dupAA | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18328595 | ||||||
| chr16:18328595
|
A | T | 1 | a0001c0002t0001g0002 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.64-353T>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18328595 | ||||||
| chr16:18328595
|
AT | A | 4 | a0001c0002t0001g0035a0002c0005t0004g0032a0005c0009t0008g0009others(1): Show | 4 | HG00639.hp2 HG01517.hp2 HG01884.hp2 others(1): Show |
intron_variant | MODIFIER | c.64-354delA | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18328595 | ||||||
| chr16:18328597
|
T | A | 2 | a0005c0009t0008g0009a0007c0010t0006g0037 | 2 | HG01517.hp2 HG01884.hp2 |
intron_variant | MODIFIER | c.64-355A>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18328597 | ||||||
| chr16:18328639
|
G | A | 2 | a0002c0008t0007g0010a0007c0010t0006g0037 | 2 | HG01517.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.64-397C>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18328639 | ||||||
| chr16:18328688
|
C | T | 2 | a0002c0008t0007g0010a0007c0010t0006g0037 | 2 | HG01517.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.64-446G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18328688 | ||||||
| chr16:18328761
|
G | A | 1 | a0001c0001t0001g0030 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.64-519C>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18328761 | ||||||
| chr16:18329158
|
G | A | 1 | a0004c0012t0011g0012 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.64-916C>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18329158 | ||||||
| chr16:18329464
|
T | G | 1 | a0002c0008t0007g0010 | 1 | NA19084.hp2 | intron_variant | MODIFIER | c.64-1222A>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18329464 | ||||||
| chr16:18329465
|
G | T | 1 | a0002c0008t0007g0010 | 1 | NA19084.hp2 | intron_variant | MODIFIER | c.64-1223C>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18329465 | ||||||
| chr16:18329600
|
C | G | 3 | a0002c0008t0007g0010a0005c0009t0008g0009a0007c0010t0006g0037 | 3 | HG01517.hp2 HG01884.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.64-1358G>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18329600 | ||||||
| chr16:18329607
|
G | T | 3 | a0002c0005t0004g0032a0002c0005t0005g0033a0006c0007t0003g0038 | 3 | HG00639.hp2 NA18982.hp1 NA19010.hp2 |
intron_variant | MODIFIER | c.64-1365C>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18329607 | ||||||
| chr16:18329681
|
T | C | 20 | a0001c0001t0001g0030a0001c0002t0001g0002a0001c0002t0001g0003others(17): Show | 20 | HG00558.hp2 HG00609.hp2 HG00639.hp1 others(17): Show |
intron_variant | MODIFIER | c.64-1439A>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18329681 | ||||||
| chr16:18329783
|
T | TA | 5 | a0002c0005t0004g0032a0002c0005t0005g0033a0004c0006t0003g0039others(2): Show | 5 | HG00609.hp2 HG00639.hp2 HG01517.hp2 others(2): Show |
intron_variant | MODIFIER | c.64-1542dupT | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18329783 | ||||||
| chr16:18329783
|
TA | T | 7 | a0001c0002t0001g0002a0002c0004t0001g0027a0002c0004t0001g0031others(4): Show | 7 | HG00558.hp2 HG02109.hp2 HG02273.hp2 others(4): Show |
intron_variant | MODIFIER | c.64-1542delT | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18329783 | ||||||
| chr16:18330017
|
C | T | 3 | a0003c0003t0002g0006a0003c0003t0002g0007a0003c0003t0002g0008 | 3 | HG00558.hp2 HG02273.hp2 NA18950.hp2 |
intron_variant | MODIFIER | c.64-1775G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18330017 | ||||||
| chr16:18330144
|
C | CA | 14 | a0001c0001t0001g0015a0001c0001t0001g0018a0001c0001t0001g0023others(11): Show | 14 | HG01071.hp1 HG01517.hp1 HG01884.hp2 others(11): Show |
intron_variant | MODIFIER | c.64-1903dupT | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18330144 | ||||||
| chr16:18330144
|
C | CAA | 5 | a0001c0001t0001g0025a0001c0002t0001g0002a0002c0005t0004g0032others(2): Show | 5 | HG00609.hp2 HG00639.hp2 HG01071.hp2 others(2): Show |
intron_variant | MODIFIER | c.64-1904_64-1903dup others(2): Show |
NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18330144 | ||||||
| chr16:18330144
|
C | CAAAA | 5 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(2): Show | 5 | NA18950.hp1 NA18980.hp1 NA18982.hp2 others(2): Show |
intron_variant | MODIFIER | c.64-1906_64-1903dup others(4): Show |
NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18330144 | ||||||
| chr16:18330577
|
C | G | 23 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0020others(20): Show | 23 | HG00558.hp1 HG00558.hp2 HG00609.hp1 others(20): Show |
intron_variant | MODIFIER | c.63+2023G>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18330577 | ||||||
| chr16:18330669
|
T | C | 16 | a0001c0002t0001g0002a0001c0002t0001g0003a0001c0002t0001g0019others(13): Show | 16 | HG00558.hp2 HG01517.hp2 HG01884.hp2 others(13): Show |
intron_variant | MODIFIER | c.63+1931A>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18330669 | ||||||
| chr16:18330703
|
A | G | 1 | a0001c0002t0001g0019 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.63+1897T>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18330703 | ||||||
| chr16:18330740
|
T | G | 10 | a0001c0001t0001g0018a0001c0001t0001g0023a0001c0001t0001g0024others(7): Show | 10 | HG00609.hp2 HG00639.hp2 HG01071.hp1 others(7): Show |
intron_variant | MODIFIER | c.63+1860A>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18330740 | ||||||
| chr16:18330926
|
T | C | 1 | a0005c0009t0008g0009 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.63+1674A>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18330926 | ||||||
| chr16:18330937
|
T | A | 3 | a0002c0008t0007g0010a0005c0009t0008g0009a0007c0010t0006g0037 | 3 | HG01517.hp2 HG01884.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.63+1663A>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18330937 | ||||||
| chr16:18330998
|
C | T | 1 | a0001c0001t0001g0018 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.63+1602G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18330998 | ||||||
| chr16:18331076
|
C | T | 1 | a0005c0009t0008g0009 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.63+1524G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18331076 | ||||||
| chr16:18331112
|
C | G | 4 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(1): Show | 4 | NA18950.hp1 NA18980.hp1 NA18982.hp2 others(1): Show |
intron_variant | MODIFIER | c.63+1488G>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18331112 | ||||||
| chr16:18331135
|
T | C | 12 | a0001c0002t0001g0002a0001c0002t0001g0003a0001c0002t0001g0034others(9): Show | 12 | HG00609.hp2 HG00639.hp2 HG01517.hp2 others(9): Show |
intron_variant | MODIFIER | c.63+1465A>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18331135 | ||||||
| chr16:18331162
|
A | T | 1 | a0001c0002t0001g0002 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.63+1438T>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18331162 | ||||||
| chr16:18331163
|
C | A | 1 | a0001c0002t0001g0002 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.63+1437G>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18331163 | ||||||
| chr16:18331164
|
A | C | 2 | a0001c0002t0001g0002a0001c0002t0002g0028 | 2 | HG02109.hp1 HG02109.hp2 |
intron_variant | MODIFIER | c.63+1436T>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18331164 | ||||||
| chr16:18331167
|
AAGTAGCC others(29): Show |
A | 7 | a0002c0005t0004g0032a0002c0005t0005g0033a0002c0008t0007g0010others(4): Show | 7 | HG00609.hp2 HG00639.hp2 HG01517.hp2 others(4): Show |
intron_variant | MODIFIER | c.63+1397_63+1432del others(36): Show |
NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18331167 | ||||||
| chr16:18331169
|
G | T | 4 | a0001c0002t0001g0002a0001c0002t0001g0003a0001c0002t0001g0034others(1): Show | 4 | HG02109.hp2 HG02165.hp1 HG02559.hp2 others(1): Show |
intron_variant | MODIFIER | c.63+1431C>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18331169 | ||||||
| chr16:18331212
|
G | T | 3 | a0002c0008t0007g0010a0005c0009t0008g0009a0007c0010t0006g0037 | 3 | HG01517.hp2 HG01884.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.63+1388C>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18331212 | ||||||
| chr16:18331217
|
G | T | 7 | a0002c0005t0004g0032a0002c0005t0005g0033a0002c0008t0007g0010others(4): Show | 7 | HG00609.hp2 HG00639.hp2 HG01517.hp2 others(4): Show |
intron_variant | MODIFIER | c.63+1383C>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18331217 | ||||||
| chr16:18331230
|
A | G | 7 | a0002c0005t0004g0032a0002c0005t0005g0033a0002c0008t0007g0010others(4): Show | 7 | HG00609.hp2 HG00639.hp2 HG01517.hp2 others(4): Show |
intron_variant | MODIFIER | c.63+1370T>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18331230 | ||||||
| chr16:18331252
|
A | C | 4 | a0002c0005t0004g0032a0002c0005t0005g0033a0004c0006t0003g0039others(1): Show | 4 | HG00609.hp2 HG00639.hp2 NA18982.hp1 others(1): Show |
intron_variant | MODIFIER | c.63+1348T>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18331252 | ||||||
| chr16:18331255
|
T | G | 1 | a0006c0007t0003g0038 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.63+1345A>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18331255 | ||||||
| chr16:18331320
|
A | G | 7 | a0002c0005t0004g0032a0002c0005t0005g0033a0002c0008t0007g0010others(4): Show | 7 | HG00609.hp2 HG00639.hp2 HG01517.hp2 others(4): Show |
intron_variant | MODIFIER | c.63+1280T>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18331320 | ||||||
| chr16:18331326
|
G | A | 7 | a0002c0005t0004g0032a0002c0005t0005g0033a0002c0008t0007g0010others(4): Show | 7 | HG00609.hp2 HG00639.hp2 HG01517.hp2 others(4): Show |
intron_variant | MODIFIER | c.63+1274C>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18331326 | ||||||
| chr16:18331339
|
T | TTAA | 2 | a0002c0005t0004g0032a0006c0007t0003g0038 | 2 | HG00639.hp2 NA18982.hp1 |
intron_variant | MODIFIER | c.63+1260_63+1261ins others(3): Show |
NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18331339 | ||||||
| chr16:18331339
|
T | TTAAA | 2 | a0002c0008t0007g0010a0004c0006t0003g0039 | 2 | HG00609.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.63+1260_63+1261ins others(4): Show |
NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18331339 | ||||||
| chr16:18331339
|
T | TTAAAAAA others(15): Show |
1 | a0005c0009t0008g0009 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.63+1260_63+1261ins others(22): Show |
NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18331339 | ||||||
| chr16:18331346
|
C | A | 7 | a0002c0005t0004g0032a0002c0005t0005g0033a0002c0008t0007g0010others(4): Show | 7 | HG00609.hp2 HG00639.hp2 HG01517.hp2 others(4): Show |
intron_variant | MODIFIER | c.63+1254G>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18331346 | ||||||
| chr16:18331350
|
C | A | 7 | a0002c0005t0004g0032a0002c0005t0005g0033a0002c0008t0007g0010others(4): Show | 7 | HG00609.hp2 HG00639.hp2 HG01517.hp2 others(4): Show |
intron_variant | MODIFIER | c.63+1250G>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18331350 | ||||||
| chr16:18331354
|
C | A | 7 | a0002c0005t0004g0032a0002c0005t0005g0033a0002c0008t0007g0010others(4): Show | 7 | HG00609.hp2 HG00639.hp2 HG01517.hp2 others(4): Show |
intron_variant | MODIFIER | c.63+1246G>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18331354 | ||||||
| chr16:18331387
|
C | G | 4 | a0002c0005t0004g0032a0002c0005t0005g0033a0004c0006t0003g0039others(1): Show | 4 | HG00609.hp2 HG00639.hp2 NA18982.hp1 others(1): Show |
intron_variant | MODIFIER | c.63+1213G>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18331387 | ||||||
| chr16:18331415
|
G | A | 1 | a0001c0011t0010g0004 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.63+1185C>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18331415 | ||||||
| chr16:18331422
|
C | T | 7 | a0002c0005t0004g0032a0002c0005t0005g0033a0002c0008t0007g0010others(4): Show | 7 | HG00609.hp2 HG00639.hp2 HG01517.hp2 others(4): Show |
intron_variant | MODIFIER | c.63+1178G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18331422 | ||||||
| chr16:18331427
|
G | A | 7 | a0002c0005t0004g0032a0002c0005t0005g0033a0002c0008t0007g0010others(4): Show | 7 | HG00609.hp2 HG00639.hp2 HG01517.hp2 others(4): Show |
intron_variant | MODIFIER | c.63+1173C>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18331427 | ||||||
| chr16:18331442
|
A | G | 9 | a0002c0004t0001g0027a0002c0005t0004g0032a0002c0005t0005g0033others(6): Show | 9 | HG00609.hp2 HG00639.hp2 HG01517.hp2 others(6): Show |
intron_variant | MODIFIER | c.63+1158T>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18331442 | ||||||
| chr16:18331444
|
A | G | 9 | a0002c0004t0001g0027a0002c0005t0004g0032a0002c0005t0005g0033others(6): Show | 9 | HG00609.hp2 HG00639.hp2 HG01517.hp2 others(6): Show |
intron_variant | MODIFIER | c.63+1156T>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18331444 | ||||||
| chr16:18331446
|
C | G | 9 | a0002c0004t0001g0027a0002c0005t0004g0032a0002c0005t0005g0033others(6): Show | 9 | HG00609.hp2 HG00639.hp2 HG01517.hp2 others(6): Show |
intron_variant | MODIFIER | c.63+1154G>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18331446 | ||||||
| chr16:18331642
|
A | G | 3 | a0002c0008t0007g0010a0005c0009t0008g0009a0007c0010t0006g0037 | 3 | HG01517.hp2 HG01884.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.63+958T>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18331642 | ||||||
| chr16:18331763
|
C | G | 1 | a0005c0009t0008g0009 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.63+837G>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18331763 | ||||||
| chr16:18331881
|
G | A | 1 | a0001c0001t0001g0025 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.63+719C>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18331881 | ||||||
| chr16:18331910
|
G | A | 3 | a0002c0008t0007g0010a0005c0009t0008g0009a0007c0010t0006g0037 | 3 | HG01517.hp2 HG01884.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.63+690C>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18331910 | ||||||
| chr16:18331914
|
T | G | 3 | a0002c0008t0007g0010a0005c0009t0008g0009a0007c0010t0006g0037 | 3 | HG01517.hp2 HG01884.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.63+686A>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18331914 | ||||||
| chr16:18331919
|
C | T | 3 | a0002c0008t0007g0010a0005c0009t0008g0009a0007c0010t0006g0037 | 3 | HG01517.hp2 HG01884.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.63+681G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18331919 | ||||||
| chr16:18331920
|
A | G | 3 | a0002c0008t0007g0010a0005c0009t0008g0009a0007c0010t0006g0037 | 3 | HG01517.hp2 HG01884.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.63+680T>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18331920 | ||||||
| chr16:18331982
|
G | C | 9 | a0001c0001t0001g0016a0001c0011t0010g0004a0002c0005t0004g0032others(6): Show | 9 | HG00558.hp2 HG00609.hp2 HG00639.hp2 others(6): Show |
intron_variant | MODIFIER | c.63+618C>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18331982 | ||||||
| chr16:18331992
|
T | TGGGGAGG others(5): Show |
1 | a0006c0007t0003g0038 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.63+596_63+607dupCT others(10): Show |
NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18331992 | ||||||
| chr16:18332018
|
G | GAGGGGGA others(5): Show |
1 | a0004c0006t0003g0039 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.63+570_63+581dupTC others(10): Show |
NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18332018 | ||||||
| chr16:18332020
|
G | A | 5 | a0001c0011t0010g0004a0002c0008t0007g0010a0005c0009t0008g0009others(2): Show | 5 | HG01517.hp2 HG01884.hp2 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.63+580C>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18332020 | ||||||
| chr16:18332020
|
G | GGGGGAGG others(4): Show |
3 | a0001c0001t0001g0016a0002c0005t0004g0032a0002c0005t0005g0033 | 3 | HG00639.hp2 NA18978.hp2 NA19010.hp2 |
intron_variant | MODIFIER | c.63+569_63+579dupTT others(9): Show |
NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18332020 | ||||||
| chr16:18332197
|
G | C | 3 | a0002c0008t0007g0010a0005c0009t0008g0009a0007c0010t0006g0037 | 3 | HG01517.hp2 HG01884.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.63+403C>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18332197 | ||||||
| chr16:18332232
|
AGAG | A | 11 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(8): Show | 11 | HG00609.hp2 HG00639.hp2 HG01517.hp2 others(8): Show |
intron_variant | MODIFIER | c.63+365_63+367delCT others(1): Show |
NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18332232 | ||||||
| chr16:18332399
|
A | T | 4 | a0002c0005t0004g0032a0002c0005t0005g0033a0003c0003t0002g0007others(1): Show | 4 | HG00558.hp2 HG00639.hp2 NA18982.hp1 others(1): Show |
intron_variant | MODIFIER | c.63+201T>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18332399 | ||||||
| chr16:18332459
|
C | T | 8 | a0001c0001t0001g0030a0002c0005t0004g0032a0002c0005t0005g0033others(5): Show | 8 | HG00609.hp2 HG00639.hp1 HG00639.hp2 others(5): Show |
intron_variant | MODIFIER | c.63+141G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18332459 | ||||||
| chr16:18332501
|
C | T | 11 | a0002c0004t0001g0027a0002c0004t0001g0031a0002c0004t0001g0036others(8): Show | 11 | HG00609.hp2 HG00639.hp2 HG01517.hp2 others(8): Show |
intron_variant | MODIFIER | c.63+99G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 3/9 | chr16 | 18332501 | ||||||
| chr16:18332872
|
A | T | 2 | a0004c0006t0003g0039a0006c0007t0003g0038 | 2 | HG00609.hp2 NA18982.hp1 |
intron_variant | MODIFIER | c.-69-141T>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18332872 | ||||||
| chr16:18333086
|
A | T | 1 | a0007c0010t0006g0037 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.-69-355T>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18333086 | ||||||
| chr16:18333087
|
C | T | 1 | a0002c0008t0007g0010 | 1 | NA19084.hp2 | intron_variant | MODIFIER | c.-69-356G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18333087 | ||||||
| chr16:18333116
|
C | T | 2 | a0002c0008t0007g0010a0007c0010t0006g0037 | 2 | HG01517.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.-69-385G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18333116 | ||||||
| chr16:18333122
|
T | C | 8 | a0002c0004t0001g0036a0002c0005t0004g0032a0002c0005t0005g0033others(5): Show | 8 | HG00609.hp2 HG00639.hp2 HG01517.hp2 others(5): Show |
intron_variant | MODIFIER | c.-69-391A>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18333122 | ||||||
| chr16:18333145
|
G | A | 7 | a0002c0005t0004g0032a0002c0005t0005g0033a0002c0008t0007g0010others(4): Show | 7 | HG00609.hp2 HG00639.hp2 HG01517.hp2 others(4): Show |
intron_variant | MODIFIER | c.-69-414C>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18333145 | ||||||
| chr16:18333226
|
A | G | 2 | a0004c0006t0003g0039a0006c0007t0003g0038 | 2 | HG00609.hp2 NA18982.hp1 |
intron_variant | MODIFIER | c.-69-495T>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18333226 | ||||||
| chr16:18333227
|
G | C | 2 | a0004c0006t0003g0039a0006c0007t0003g0038 | 2 | HG00609.hp2 NA18982.hp1 |
intron_variant | MODIFIER | c.-69-496C>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18333227 | ||||||
| chr16:18333252
|
G | A | 2 | a0004c0006t0003g0039a0006c0007t0003g0038 | 2 | HG00609.hp2 NA18982.hp1 |
intron_variant | MODIFIER | c.-69-521C>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18333252 | ||||||
| chr16:18333295
|
A | G | 2 | a0004c0006t0003g0039a0006c0007t0003g0038 | 2 | HG00609.hp2 NA18982.hp1 |
intron_variant | MODIFIER | c.-69-564T>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18333295 | ||||||
| chr16:18333324
|
C | A | 5 | a0002c0005t0004g0032a0002c0005t0005g0033a0003c0003t0002g0006others(2): Show | 5 | HG00558.hp2 HG00639.hp2 HG02273.hp2 others(2): Show |
intron_variant | MODIFIER | c.-69-593G>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18333324 | ||||||
| chr16:18333360
|
C | T | 5 | a0001c0001t0001g0005a0002c0005t0004g0032a0002c0005t0005g0033others(2): Show | 5 | HG00609.hp2 HG00639.hp2 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.-69-629G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18333360 | ||||||
| chr16:18333459
|
G | A | 2 | a0004c0006t0003g0039a0006c0007t0003g0038 | 2 | HG00609.hp2 NA18982.hp1 |
intron_variant | MODIFIER | c.-69-728C>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18333459 | ||||||
| chr16:18333480
|
ACTCT | A | 2 | a0002c0005t0004g0032a0002c0005t0005g0033 | 2 | HG00639.hp2 NA19010.hp2 |
intron_variant | MODIFIER | c.-69-753_-69-750del others(4): Show |
NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18333480 | ||||||
| chr16:18333573
|
T | C | 1 | a0005c0009t0008g0009 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-69-842A>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18333573 | ||||||
| chr16:18333587
|
G | A | 2 | a0004c0006t0003g0039a0006c0007t0003g0038 | 2 | HG00609.hp2 NA18982.hp1 |
intron_variant | MODIFIER | c.-69-856C>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18333587 | ||||||
| chr16:18333632
|
A | G | 3 | a0002c0005t0004g0032a0002c0005t0005g0033a0004c0012t0011g0012 | 3 | HG00639.hp2 NA18982.hp2 NA19010.hp2 |
intron_variant | MODIFIER | c.-69-901T>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18333632 | ||||||
| chr16:18333653
|
CAG | C | 2 | a0002c0008t0007g0010a0007c0010t0006g0037 | 2 | HG01517.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.-69-924_-69-923del others(2): Show |
NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18333653 | ||||||
| chr16:18333664
|
G | T | 1 | a0001c0001t0001g0017 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.-69-933C>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18333664 | ||||||
| chr16:18333714
|
A | G | 8 | a0001c0002t0001g0035a0002c0005t0004g0032a0002c0005t0005g0033others(5): Show | 8 | HG00609.hp2 HG00639.hp2 HG01517.hp2 others(5): Show |
intron_variant | MODIFIER | c.-69-983T>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18333714 | ||||||
| chr16:18333768
|
C | G | 1 | a0006c0007t0003g0038 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.-70+943G>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18333768 | ||||||
| chr16:18333792
|
C | T | 3 | a0002c0008t0007g0010a0005c0009t0008g0009a0007c0010t0006g0037 | 3 | HG01517.hp2 HG01884.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.-70+919G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18333792 | ||||||
| chr16:18333798
|
T | C | 2 | a0004c0006t0003g0039a0006c0007t0003g0038 | 2 | HG00609.hp2 NA18982.hp1 |
intron_variant | MODIFIER | c.-70+913A>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18333798 | ||||||
| chr16:18333809
|
A | G | 8 | a0001c0011t0010g0004a0002c0005t0004g0032a0002c0005t0005g0033others(5): Show | 8 | HG00609.hp2 HG00639.hp2 HG01517.hp2 others(5): Show |
intron_variant | MODIFIER | c.-70+902T>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18333809 | ||||||
| chr16:18333813
|
G | C | 3 | a0003c0003t0002g0006a0003c0003t0002g0007a0003c0003t0002g0008 | 3 | HG00558.hp2 HG02273.hp2 NA18950.hp2 |
intron_variant | MODIFIER | c.-70+898C>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18333813 | ||||||
| chr16:18333891
|
A | G | 7 | a0002c0005t0004g0032a0002c0005t0005g0033a0002c0008t0007g0010others(4): Show | 7 | HG00609.hp2 HG00639.hp2 HG01517.hp2 others(4): Show |
intron_variant | MODIFIER | c.-70+820T>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18333891 | ||||||
| chr16:18333913
|
A | G | 7 | a0002c0005t0004g0032a0002c0005t0005g0033a0002c0008t0007g0010others(4): Show | 7 | HG00609.hp2 HG00639.hp2 HG01517.hp2 others(4): Show |
intron_variant | MODIFIER | c.-70+798T>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18333913 | ||||||
| chr16:18333923
|
G | A | 3 | a0002c0008t0007g0010a0005c0009t0008g0009a0007c0010t0006g0037 | 3 | HG01517.hp2 HG01884.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.-70+788C>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18333923 | ||||||
| chr16:18333951
|
TACAA | T | 2 | a0004c0006t0003g0039a0006c0007t0003g0038 | 2 | HG00609.hp2 NA18982.hp1 |
intron_variant | MODIFIER | c.-70+756_-70+759del others(4): Show |
NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18333951 | ||||||
| chr16:18333972
|
A | G | 4 | a0002c0005t0004g0032a0002c0005t0005g0033a0004c0006t0003g0039others(1): Show | 4 | HG00609.hp2 HG00639.hp2 NA18982.hp1 others(1): Show |
intron_variant | MODIFIER | c.-70+739T>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18333972 | ||||||
| chr16:18333982
|
C | G | 2 | a0004c0006t0003g0039a0006c0007t0003g0038 | 2 | HG00609.hp2 NA18982.hp1 |
intron_variant | MODIFIER | c.-70+729G>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18333982 | ||||||
| chr16:18333999
|
A | T | 2 | a0004c0006t0003g0039a0006c0007t0003g0038 | 2 | HG00609.hp2 NA18982.hp1 |
intron_variant | MODIFIER | c.-70+712T>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18333999 | ||||||
| chr16:18334056
|
C | T | 1 | a0002c0005t0004g0032 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.-70+655G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18334056 | ||||||
| chr16:18334059
|
G | A | 1 | a0005c0009t0008g0009 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-70+652C>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18334059 | ||||||
| chr16:18334098
|
C | T | 2 | a0001c0002t0001g0002a0001c0002t0001g0003 | 2 | HG02109.hp2 HG02165.hp1 |
intron_variant | MODIFIER | c.-70+613G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18334098 | ||||||
| chr16:18334134
|
C | A | 3 | a0002c0008t0007g0010a0005c0009t0008g0009a0007c0010t0006g0037 | 3 | HG01517.hp2 HG01884.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.-70+577G>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18334134 | ||||||
| chr16:18334196
|
T | C | 2 | a0004c0006t0003g0039a0006c0007t0003g0038 | 2 | HG00609.hp2 NA18982.hp1 |
intron_variant | MODIFIER | c.-70+515A>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18334196 | ||||||
| chr16:18334239
|
C | T | 3 | a0001c0011t0010g0004a0002c0005t0004g0032a0002c0005t0005g0033 | 3 | HG00639.hp2 HG02896.hp2 NA19010.hp2 |
intron_variant | MODIFIER | c.-70+472G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18334239 | ||||||
| chr16:18334263
|
C | T | 3 | a0002c0008t0007g0010a0005c0009t0008g0009a0007c0010t0006g0037 | 3 | HG01517.hp2 HG01884.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.-70+448G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18334263 | ||||||
| chr16:18334319
|
C | CA | 5 | a0001c0001t0009g0013a0001c0002t0001g0002a0001c0002t0001g0003others(2): Show | 5 | HG01884.hp1 HG02109.hp2 HG02155.hp2 others(2): Show |
intron_variant | MODIFIER | c.-70+391dupT | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18334319 | ||||||
| chr16:18334319
|
CA | C | 5 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0030others(2): Show | 5 | HG00639.hp1 HG02896.hp2 NA18978.hp2 others(2): Show |
intron_variant | MODIFIER | c.-70+391delT | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18334319 | ||||||
| chr16:18334344
|
GC | G | 2 | a0001c0002t0001g0002a0007c0010t0006g0037 | 2 | HG01517.hp2 HG02109.hp2 |
intron_variant | MODIFIER | c.-70+366delG | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18334344 | ||||||
| chr16:18334370
|
TA | T | 2 | a0001c0002t0001g0002a0002c0005t0005g0033 | 2 | HG02109.hp2 NA19010.hp2 |
intron_variant | MODIFIER | c.-70+340delT | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18334370 | ||||||
| chr16:18334398
|
T | C | 3 | a0002c0005t0004g0032a0002c0005t0005g0033a0005c0009t0008g0009 | 3 | HG00639.hp2 HG01884.hp2 NA19010.hp2 |
intron_variant | MODIFIER | c.-70+313A>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18334398 | ||||||
| chr16:18334399
|
G | A | 1 | a0002c0005t0004g0032 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.-70+312C>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18334399 | ||||||
| chr16:18334402
|
C | T | 1 | a0001c0002t0001g0014 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.-70+309G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18334402 | ||||||
| chr16:18334403
|
C | T | 3 | a0003c0003t0002g0006a0003c0003t0002g0007a0003c0003t0002g0008 | 3 | HG00558.hp2 HG02273.hp2 NA18950.hp2 |
intron_variant | MODIFIER | c.-70+308G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18334403 | ||||||
| chr16:18334473
|
G | A | 1 | a0001c0002t0002g0028 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.-70+238C>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18334473 | ||||||
| chr16:18334518
|
G | C | 1 | a0006c0007t0003g0038 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.-70+193C>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18334518 | ||||||
| chr16:18334595
|
C | G | 5 | a0002c0005t0004g0032a0002c0005t0005g0033a0002c0008t0007g0010others(2): Show | 5 | HG00639.hp2 HG01517.hp2 HG01884.hp2 others(2): Show |
intron_variant | MODIFIER | c.-70+116G>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18334595 | ||||||
| chr16:18334632
|
G | A | 1 | a0002c0004t0001g0027 | 1 | NA18980.hp1 | intron_variant | MODIFIER | c.-70+79C>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18334632 | ||||||
| chr16:18334635
|
C | G | 1 | a0004c0006t0003g0039 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.-70+76G>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18334635 | ||||||
| chr16:18334657
|
T | C | 1 | a0005c0009t0008g0009 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-70+54A>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/9 | chr16 | 18334657 | ||||||
| chr16:18334977
|
G | A | 2 | a0002c0005t0004g0032a0002c0005t0005g0033 | 2 | HG00639.hp2 NA19010.hp2 |
intron_variant | MODIFIER | c.-326-10C>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18334977 | ||||||
| chr16:18334979
|
C | G | 2 | a0002c0005t0004g0032a0002c0005t0005g0033 | 2 | HG00639.hp2 NA19010.hp2 |
intron_variant | MODIFIER | c.-326-12G>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18334979 | ||||||
| chr16:18334997
|
G | A | 1 | a0002c0005t0005g0033 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.-326-30C>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18334997 | ||||||
| chr16:18335020
|
A | C | 3 | a0001c0001t0001g0030a0004c0006t0003g0039a0006c0007t0003g0038 | 3 | HG00609.hp2 HG00639.hp1 NA18982.hp1 |
intron_variant | MODIFIER | c.-326-53T>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18335020 | ||||||
| chr16:18335021
|
G | T | 3 | a0001c0001t0001g0030a0004c0006t0003g0039a0006c0007t0003g0038 | 3 | HG00609.hp2 HG00639.hp1 NA18982.hp1 |
intron_variant | MODIFIER | c.-326-54C>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18335021 | ||||||
| chr16:18335071
|
A | G | 4 | a0002c0005t0004g0032a0002c0005t0005g0033a0004c0006t0003g0039others(1): Show | 4 | HG00609.hp2 HG00639.hp2 NA18982.hp1 others(1): Show |
intron_variant | MODIFIER | c.-326-104T>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18335071 | ||||||
| chr16:18335081
|
C | T | 1 | a0002c0005t0005g0033 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.-326-114G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18335081 | ||||||
| chr16:18335082
|
C | T | 1 | a0001c0002t0002g0028 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.-326-115G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18335082 | ||||||
| chr16:18335092
|
G | A | 2 | a0002c0005t0004g0032a0002c0005t0005g0033 | 2 | HG00639.hp2 NA19010.hp2 |
intron_variant | MODIFIER | c.-326-125C>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18335092 | ||||||
| chr16:18335139
|
A | G | 3 | a0001c0001t0001g0030a0004c0006t0003g0039a0006c0007t0003g0038 | 3 | HG00609.hp2 HG00639.hp1 NA18982.hp1 |
intron_variant | MODIFIER | c.-326-172T>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18335139 | ||||||
| chr16:18335153
|
A | G | 1 | a0002c0005t0005g0033 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.-326-186T>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18335153 | ||||||
| chr16:18335192
|
G | A | 5 | a0001c0002t0002g0028a0002c0005t0004g0032a0002c0005t0005g0033others(2): Show | 5 | HG00639.hp2 HG01517.hp2 HG01884.hp2 others(2): Show |
intron_variant | MODIFIER | c.-326-225C>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18335192 | ||||||
| chr16:18335192
|
G | C | 2 | a0004c0006t0003g0039a0006c0007t0003g0038 | 2 | HG00609.hp2 NA18982.hp1 |
intron_variant | MODIFIER | c.-326-225C>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18335192 | ||||||
| chr16:18335199
|
AT | A | 4 | a0001c0002t0002g0028a0001c0011t0010g0004a0002c0008t0007g0010others(1): Show | 4 | HG01884.hp2 HG02109.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.-326-233delA | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18335199 | ||||||
| chr16:18335211
|
T | C | 2 | a0004c0006t0003g0039a0006c0007t0003g0038 | 2 | HG00609.hp2 NA18982.hp1 |
intron_variant | MODIFIER | c.-326-244A>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18335211 | ||||||
| chr16:18335213
|
TTTA | T | 4 | a0002c0005t0004g0032a0002c0005t0005g0033a0004c0006t0003g0039others(1): Show | 4 | HG00609.hp2 HG00639.hp2 NA18982.hp1 others(1): Show |
intron_variant | MODIFIER | c.-326-249_-326-247d others(5): Show |
NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18335213 | ||||||
| chr16:18335245
|
A | T | 5 | a0001c0002t0001g0002a0002c0005t0004g0032a0002c0005t0005g0033others(2): Show | 5 | HG00609.hp2 HG00639.hp2 HG02109.hp2 others(2): Show |
intron_variant | MODIFIER | c.-326-278T>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18335245 | ||||||
| chr16:18335301
|
G | A | 1 | a0001c0001t0001g0011 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.-326-334C>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18335301 | ||||||
| chr16:18335304
|
T | TGTCC | 2 | a0002c0005t0004g0032a0002c0005t0005g0033 | 2 | HG00639.hp2 NA19010.hp2 |
intron_variant | MODIFIER | c.-326-341_-326-338d others(6): Show |
NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18335304 | ||||||
| chr16:18335321
|
C | T | 2 | a0002c0005t0004g0032a0002c0005t0005g0033 | 2 | HG00639.hp2 NA19010.hp2 |
intron_variant | MODIFIER | c.-326-354G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18335321 | ||||||
| chr16:18335323
|
G | T | 2 | a0002c0005t0004g0032a0002c0005t0005g0033 | 2 | HG00639.hp2 NA19010.hp2 |
intron_variant | MODIFIER | c.-326-356C>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18335323 | ||||||
| chr16:18335363
|
A | G | 2 | a0004c0006t0003g0039a0006c0007t0003g0038 | 2 | HG00609.hp2 NA18982.hp1 |
intron_variant | MODIFIER | c.-326-396T>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18335363 | ||||||
| chr16:18335422
|
A | C | 1 | a0002c0008t0007g0010 | 1 | NA19084.hp2 | intron_variant | MODIFIER | c.-326-455T>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18335422 | ||||||
| chr16:18335431
|
C | A | 2 | a0004c0006t0003g0039a0006c0007t0003g0038 | 2 | HG00609.hp2 NA18982.hp1 |
intron_variant | MODIFIER | c.-326-464G>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18335431 | ||||||
| chr16:18335472
|
T | G | 3 | a0001c0002t0001g0026a0001c0002t0001g0029a0001c0002t0001g0035 | 3 | HG01884.hp1 HG02559.hp2 NA18978.hp1 |
intron_variant | MODIFIER | c.-326-505A>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18335472 | ||||||
| chr16:18335492
|
G | A | 3 | a0001c0001t0001g0005a0002c0005t0004g0032a0002c0005t0005g0033 | 3 | HG00639.hp2 HG02559.hp1 NA19010.hp2 |
intron_variant | MODIFIER | c.-326-525C>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18335492 | ||||||
| chr16:18335496
|
G | A | 7 | a0001c0011t0010g0004a0002c0004t0001g0027a0002c0004t0001g0036others(4): Show | 7 | HG00558.hp2 HG01884.hp2 HG02896.hp2 others(4): Show |
intron_variant | MODIFIER | c.-326-529C>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18335496 | ||||||
| chr16:18335501
|
T | A | 6 | a0001c0001t0001g0030a0001c0002t0001g0002a0001c0002t0001g0003others(3): Show | 6 | HG00609.hp2 HG00639.hp1 HG02109.hp2 others(3): Show |
intron_variant | MODIFIER | c.-326-534A>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18335501 | ||||||
| chr16:18335522
|
T | A | 17 | a0001c0001t0001g0005a0001c0001t0001g0030a0001c0002t0001g0002others(14): Show | 17 | HG00558.hp2 HG00609.hp2 HG00639.hp1 others(14): Show |
intron_variant | MODIFIER | c.-326-555A>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18335522 | ||||||
| chr16:18335589
|
G | A | 2 | a0001c0001t0001g0005a0003c0003t0002g0006 | 2 | HG02559.hp1 NA18950.hp2 |
intron_variant | MODIFIER | c.-326-622C>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18335589 | ||||||
| chr16:18335800
|
C | T | 4 | a0002c0005t0004g0032a0002c0005t0005g0033a0004c0006t0003g0039others(1): Show | 4 | HG00609.hp2 HG00639.hp2 NA18982.hp1 others(1): Show |
intron_variant | MODIFIER | c.-326-833G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18335800 | ||||||
| chr16:18335801
|
A | G | 4 | a0002c0005t0004g0032a0002c0005t0005g0033a0004c0006t0003g0039others(1): Show | 4 | HG00609.hp2 HG00639.hp2 NA18982.hp1 others(1): Show |
intron_variant | MODIFIER | c.-327+833T>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18335801 | ||||||
| chr16:18335802
|
A | G | 2 | a0002c0005t0004g0032a0002c0005t0005g0033 | 2 | HG00639.hp2 NA19010.hp2 |
intron_variant | MODIFIER | c.-327+832T>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18335802 | ||||||
| chr16:18335818
|
A | AT | 3 | a0001c0002t0001g0034a0001c0002t0001g0035a0002c0005t0004g0032 | 3 | HG00639.hp2 HG02559.hp2 HG02896.hp1 |
intron_variant | MODIFIER | c.-327+815dupA | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18335818 | ||||||
| chr16:18335828
|
TC | T | 3 | a0001c0001t0001g0011a0001c0002t0001g0002a0006c0007t0003g0038 | 3 | HG02109.hp2 NA18982.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.-327+805delG | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18335828 | ||||||
| chr16:18335829
|
C | T | 3 | a0002c0005t0004g0032a0002c0005t0005g0033a0004c0006t0003g0039 | 3 | HG00609.hp2 HG00639.hp2 NA19010.hp2 |
intron_variant | MODIFIER | c.-327+805G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18335829 | ||||||
| chr16:18335843
|
T | C | 6 | a0001c0002t0001g0035a0002c0005t0004g0032a0002c0005t0005g0033others(3): Show | 6 | HG00558.hp2 HG00639.hp2 HG02273.hp2 others(3): Show |
intron_variant | MODIFIER | c.-327+791A>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18335843 | ||||||
| chr16:18335857
|
A | G | 10 | a0001c0001t0001g0011a0001c0002t0001g0002a0002c0004t0001g0036others(7): Show | 10 | HG00609.hp2 HG00639.hp2 HG01517.hp2 others(7): Show |
intron_variant | MODIFIER | c.-327+777T>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18335857 | ||||||
| chr16:18335928
|
C | T | 1 | a0002c0008t0007g0010 | 1 | NA19084.hp2 | intron_variant | MODIFIER | c.-327+706G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18335928 | ||||||
| chr16:18335929
|
T | C | 1 | a0002c0008t0007g0010 | 1 | NA19084.hp2 | intron_variant | MODIFIER | c.-327+705A>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18335929 | ||||||
| chr16:18335930
|
C | T | 1 | a0002c0008t0007g0010 | 1 | NA19084.hp2 | intron_variant | MODIFIER | c.-327+704G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18335930 | ||||||
| chr16:18335985
|
TAA | T | 3 | a0002c0005t0004g0032a0002c0005t0005g0033a0005c0009t0008g0009 | 3 | HG00639.hp2 HG01884.hp2 NA19010.hp2 |
intron_variant | MODIFIER | c.-327+647_-327+648d others(4): Show |
NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18335985 | ||||||
| chr16:18336010
|
C | T | 2 | a0002c0005t0004g0032a0002c0005t0005g0033 | 2 | HG00639.hp2 NA19010.hp2 |
intron_variant | MODIFIER | c.-327+624G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18336010 | ||||||
| chr16:18336011
|
A | G | 7 | a0002c0005t0004g0032a0002c0005t0005g0033a0003c0003t0002g0006others(4): Show | 7 | HG00558.hp2 HG00609.hp2 HG00639.hp2 others(4): Show |
intron_variant | MODIFIER | c.-327+623T>C | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18336011 | ||||||
| chr16:18336060
|
G | C | 1 | a0004c0006t0003g0039 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.-327+574C>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18336060 | ||||||
| chr16:18336069
|
G | A | 1 | a0002c0004t0001g0036 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.-327+565C>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18336069 | ||||||
| chr16:18336102
|
G | A | 2 | a0002c0005t0004g0032a0002c0005t0005g0033 | 2 | HG00639.hp2 NA19010.hp2 |
intron_variant | MODIFIER | c.-327+532C>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18336102 | ||||||
| chr16:18336120
|
C | T | 2 | a0004c0006t0003g0039a0006c0007t0003g0038 | 2 | HG00609.hp2 NA18982.hp1 |
intron_variant | MODIFIER | c.-327+514G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18336120 | ||||||
| chr16:18336145
|
G | T | 2 | a0004c0006t0003g0039a0006c0007t0003g0038 | 2 | HG00609.hp2 NA18982.hp1 |
intron_variant | MODIFIER | c.-327+489C>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18336145 | ||||||
| chr16:18336204
|
G | A | 2 | a0001c0002t0001g0034a0001c0002t0001g0035 | 2 | HG02559.hp2 HG02896.hp1 |
intron_variant | MODIFIER | c.-327+430C>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18336204 | ||||||
| chr16:18336227
|
C | T | 2 | a0004c0006t0003g0039a0006c0007t0003g0038 | 2 | HG00609.hp2 NA18982.hp1 |
intron_variant | MODIFIER | c.-327+407G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18336227 | ||||||
| chr16:18336247
|
C | T | 1 | a0003c0003t0002g0007 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.-327+387G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18336247 | ||||||
| chr16:18336252
|
C | T | 1 | a0003c0003t0002g0006 | 1 | NA18950.hp2 | intron_variant | MODIFIER | c.-327+382G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18336252 | ||||||
| chr16:18336305
|
T | C | 2 | a0004c0006t0003g0039a0006c0007t0003g0038 | 2 | HG00609.hp2 NA18982.hp1 |
intron_variant | MODIFIER | c.-327+329A>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18336305 | ||||||
| chr16:18336313
|
G | T | 1 | a0001c0001t0001g0005 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.-327+321C>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18336313 | ||||||
| chr16:18336329
|
G | A | 1 | a0002c0004t0001g0036 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.-327+305C>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18336329 | ||||||
| chr16:18336381
|
G | A | 1 | a0007c0010t0006g0037 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.-327+253C>T | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18336381 | ||||||
| chr16:18336424
|
C | T | 1 | a0001c0011t0010g0004 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.-327+210G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18336424 | ||||||
| chr16:18336437
|
C | T | 2 | a0001c0002t0001g0002a0001c0002t0001g0003 | 2 | HG02109.hp2 HG02165.hp1 |
intron_variant | MODIFIER | c.-327+197G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18336437 | ||||||
| chr16:18336569
|
C | T | 2 | a0004c0006t0003g0039a0006c0007t0003g0038 | 2 | HG00609.hp2 NA18982.hp1 |
intron_variant | MODIFIER | c.-327+65G>A | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18336569 | ||||||
| chr16:18336613
|
G | C | 2 | a0004c0006t0003g0039a0006c0007t0003g0038 | 2 | HG00609.hp2 NA18982.hp1 |
intron_variant | MODIFIER | c.-327+21C>G | NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 1/9 | chr16 | 18336613 |