Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 55187 |
| ensemblid | ENSG00000048707.15 |
| hgncid | 23595 |
| symbol | VPS13D |
| name | vacuolar protein sorting 13 homolog D |
| refseq_nuc | NM_015378.4 |
| refseq_prot | NP_056193.2 |
| ensembl_nuc | ENST00000620676.6 |
| ensembl_prot | ENSP00000478104.1 |
| mane_status | MANE Select |
| chr | chr1 |
| start | 12230030 |
| end | 12512047 |
| strand | + |
| ver | v1.2 |
| region | chr1:12230030-12512047 |
| region5000 | chr1:12225030-12517047 |
| regionname0 | VPS13D_chr1_12230030_12512047 |
| regionname5000 | VPS13D_chr1_12225030_12517047 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 4388 | 122 | 32 | 27 | 43 | 0 | 18 | 30 | VPS13D_chr1_12225030_12517047 | VPS13D | MLEGL others(4383): Show |
chr1 | 12225030 | 12517047 |
| a0002 | 0/0 | 4388 | 10 | 1 | 2 | 5 | 0 | 2 | 4 | VPS13D_chr1_12225030_12517047 | VPS13D | MLEGL others(4383): Show |
chr1 | 12225030 | 12517047 |
| a0003 | 0/0 | 4388 | 5 | 4 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | MLEGL others(4383): Show |
chr1 | 12225030 | 12517047 |
| a0004 | 0/0 | 4388 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | MLEGL others(4383): Show |
chr1 | 12225030 | 12517047 |
| a0005 | 0/0 | 4388 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | MLEGL others(4383): Show |
chr1 | 12225030 | 12517047 |
| a0006 | 0/0 | 4388 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | MLEGL others(4383): Show |
chr1 | 12225030 | 12517047 |
| a0007 | 0/0 | 4388 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | MLEGL others(4383): Show |
chr1 | 12225030 | 12517047 |
| a0008 | 0/0 | 4388 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | MLEGL others(4383): Show |
chr1 | 12225030 | 12517047 |
| a0009 | 0/0 | 4388 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | MLEGL others(4383): Show |
chr1 | 12225030 | 12517047 |
| a0010 | 0/0 | 4388 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | MLEGL others(4383): Show |
chr1 | 12225030 | 12517047 |
| a0011 | 0/0 | 4388 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | MLEGL others(4383): Show |
chr1 | 12225030 | 12517047 |
| a0012 | 0/0 | 4388 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | MLEGL others(4383): Show |
chr1 | 12225030 | 12517047 |
| a0013 | 0/0 | 4388 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | MLEGL others(4383): Show |
chr1 | 12225030 | 12517047 |
| a0014 | 0/0 | 4388 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | MLEGL others(4383): Show |
chr1 | 12225030 | 12517047 |
| a0015 | 0/0 | 4388 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | MLEGL others(4383): Show |
chr1 | 12225030 | 12517047 |
| a0016 | 0/0 | 4388 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | MLEGL others(4383): Show |
chr1 | 12225030 | 12517047 |
| a0017 | 0/0 | 4388 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | MLEGL others(4383): Show |
chr1 | 12225030 | 12517047 |
| a0018 | 0/0 | 4388 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | MLEGL others(4383): Show |
chr1 | 12225030 | 12517047 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/1 | 13164 | 59 | 14 | 13 | 22 | 0 | 9 | VPS13D_chr1_12225030_12517047 | VPS13D | ATGTT others(13159): Show |
chr1 | 12225030 | 12517047 | ||
| a0001c0002 | 1/0 | 13164 | 22 | 3 | 2 | 12 | 0 | 4 | VPS13D_chr1_12225030_12517047 | VPS13D | ATGTT others(13159): Show |
chr1 | 12225030 | 12517047 | ||
| a0001c0003 | 0/0 | 13164 | 12 | 3 | 3 | 6 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | ATGTT others(13159): Show |
chr1 | 12225030 | 12517047 | ||
| a0001c0005 | 0/0 | 13164 | 6 | 4 | 0 | 0 | 0 | 2 | VPS13D_chr1_12225030_12517047 | VPS13D | ATGTT others(13159): Show |
chr1 | 12225030 | 12517047 | ||
| a0001c0006 | 0/0 | 13164 | 6 | 0 | 3 | 1 | 0 | 2 | VPS13D_chr1_12225030_12517047 | VPS13D | ATGTT others(13159): Show |
chr1 | 12225030 | 12517047 | ||
| a0001c0008 | 0/0 | 13164 | 5 | 0 | 3 | 1 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | ATGTT others(13159): Show |
chr1 | 12225030 | 12517047 | ||
| a0001c0009 | 0/0 | 13164 | 3 | 2 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | ATGTT others(13159): Show |
chr1 | 12225030 | 12517047 | ||
| a0001c0011 | 0/0 | 13164 | 2 | 2 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | ATGTT others(13159): Show |
chr1 | 12225030 | 12517047 | ||
| a0001c0012 | 0/0 | 13164 | 2 | 1 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | ATGTT others(13159): Show |
chr1 | 12225030 | 12517047 | ||
| a0001c0013 | 0/0 | 13164 | 2 | 2 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | ATGTT others(13159): Show |
chr1 | 12225030 | 12517047 | ||
| a0001c0014 | 0/0 | 13164 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | ATGTT others(13159): Show |
chr1 | 12225030 | 12517047 | ||
| a0001c0021 | 0/0 | 13164 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | ATGTT others(13159): Show |
chr1 | 12225030 | 12517047 | ||
| a0001c0024 | 0/0 | 13164 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | ATGTT others(13159): Show |
chr1 | 12225030 | 12517047 | ||
| a0002c0004 | 0/0 | 13164 | 9 | 1 | 2 | 5 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | ATGTT others(13159): Show |
chr1 | 12225030 | 12517047 | ||
| a0002c0032 | 0/0 | 13164 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | ATGTT others(13159): Show |
chr1 | 12225030 | 12517047 | ||
| a0003c0007 | 0/0 | 13164 | 5 | 4 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | ATGTT others(13159): Show |
chr1 | 12225030 | 12517047 | ||
| a0004c0030 | 0/0 | 13164 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | ATGTT others(13159): Show |
chr1 | 12225030 | 12517047 | ||
| a0004c0031 | 0/0 | 13164 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | ATGTT others(13159): Show |
chr1 | 12225030 | 12517047 | ||
| a0005c0010 | 0/0 | 13164 | 2 | 2 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | ATGTT others(13159): Show |
chr1 | 12225030 | 12517047 | ||
| a0006c0025 | 0/0 | 13164 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | ATGTT others(13159): Show |
chr1 | 12225030 | 12517047 | ||
| a0007c0029 | 0/0 | 13164 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | ATGTT others(13159): Show |
chr1 | 12225030 | 12517047 | ||
| a0008c0026 | 0/0 | 13164 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | ATGTT others(13159): Show |
chr1 | 12225030 | 12517047 | ||
| a0009c0022 | 0/0 | 13164 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | ATGTT others(13159): Show |
chr1 | 12225030 | 12517047 | ||
| a0010c0017 | 0/0 | 13164 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | ATGTT others(13159): Show |
chr1 | 12225030 | 12517047 | ||
| a0011c0023 | 0/0 | 13164 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | ATGTT others(13159): Show |
chr1 | 12225030 | 12517047 | ||
| a0012c0028 | 0/0 | 13164 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | ATGTT others(13159): Show |
chr1 | 12225030 | 12517047 | ||
| a0013c0027 | 0/0 | 13164 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | ATGTT others(13159): Show |
chr1 | 12225030 | 12517047 | ||
| a0014c0020 | 0/0 | 13164 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | ATGTT others(13159): Show |
chr1 | 12225030 | 12517047 | ||
| a0015c0016 | 0/0 | 13164 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | ATGTT others(13159): Show |
chr1 | 12225030 | 12517047 | ||
| a0016c0018 | 0/0 | 13164 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | ATGTT others(13159): Show |
chr1 | 12225030 | 12517047 | ||
| a0017c0019 | 0/0 | 13164 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | ATGTT others(13159): Show |
chr1 | 12225030 | 12517047 | ||
| a0018c0015 | 0/0 | 13164 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | ATGTT others(13159): Show |
chr1 | 12225030 | 12517047 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/1 | 16357 | 32 | 7 | 6 | 13 | 0 | 5 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0001c0001t0002 | 0/0 | 16357 | 7 | 1 | 0 | 4 | 0 | 2 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0001c0001t0004 | 0/0 | 16357 | 5 | 2 | 0 | 2 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0001c0001t0006 | 0/0 | 16357 | 5 | 0 | 3 | 2 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0001c0001t0009 | 0/0 | 16357 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0001c0001t0010 | 0/0 | 16357 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0001c0001t0011 | 0/0 | 16357 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0001c0001t0012 | 0/0 | 16357 | 2 | 0 | 2 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0001c0001t0015 | 0/0 | 16357 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0001c0001t0016 | 0/0 | 16355 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16350): Show |
chr1 | 12225030 | 12517047 |
| a0001c0001t0019 | 0/0 | 16357 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0001c0001t0020 | 0/0 | 16357 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0001c0001t0021 | 0/0 | 16357 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0001c0002t0001 | 1/0 | 16357 | 5 | 0 | 2 | 0 | 0 | 2 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0001c0002t0002 | 0/0 | 16357 | 8 | 0 | 0 | 6 | 0 | 2 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0001c0002t0004 | 0/0 | 16357 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0001c0002t0007 | 0/0 | 16357 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0001c0002t0008 | 0/0 | 16357 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0001c0002t0009 | 0/0 | 16357 | 4 | 0 | 0 | 4 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0001c0002t0015 | 0/0 | 16357 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0001c0002t0027 | 0/0 | 16357 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0001c0003t0001 | 0/0 | 16357 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0001c0003t0002 | 0/0 | 16357 | 3 | 1 | 0 | 2 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0001c0003t0005 | 0/0 | 16357 | 6 | 0 | 3 | 3 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0001c0003t0016 | 0/0 | 16355 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16350): Show |
chr1 | 12225030 | 12517047 |
| a0001c0003t0017 | 0/0 | 16357 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0001c0005t0001 | 0/0 | 16357 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0001c0005t0002 | 0/0 | 16357 | 3 | 3 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0001c0005t0004 | 0/0 | 16357 | 2 | 1 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0001c0006t0003 | 0/0 | 16357 | 4 | 0 | 3 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0001c0006t0010 | 0/0 | 16357 | 2 | 0 | 0 | 0 | 0 | 2 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0001c0008t0003 | 0/0 | 16357 | 5 | 0 | 3 | 1 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0001c0009t0004 | 0/0 | 16357 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0001c0009t0008 | 0/0 | 16357 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0001c0009t0022 | 0/0 | 16357 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0001c0011t0011 | 0/0 | 16357 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0001c0011t0018 | 0/0 | 16357 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0001c0012t0002 | 0/0 | 16357 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0001c0012t0008 | 0/0 | 16357 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0001c0013t0001 | 0/0 | 16357 | 2 | 2 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0001c0014t0012 | 0/0 | 16357 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0001c0021t0013 | 0/0 | 16355 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16350): Show |
chr1 | 12225030 | 12517047 |
| a0001c0024t0001 | 0/0 | 16357 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0002c0004t0001 | 0/0 | 16357 | 8 | 1 | 2 | 4 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0002c0004t0025 | 0/0 | 16357 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0002c0032t0001 | 0/0 | 16357 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0003c0007t0007 | 0/0 | 16357 | 5 | 4 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0004c0030t0014 | 0/0 | 16357 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0004c0031t0014 | 0/0 | 16357 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0005c0010t0008 | 0/0 | 16357 | 2 | 2 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0006c0025t0003 | 0/0 | 16357 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0007c0029t0011 | 0/0 | 16357 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0008c0026t0006 | 0/0 | 16357 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0009c0022t0002 | 0/0 | 16357 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0010c0017t0001 | 0/0 | 16357 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0011c0023t0002 | 0/0 | 16357 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0012c0028t0013 | 0/0 | 16355 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16350): Show |
chr1 | 12225030 | 12517047 |
| a0013c0027t0001 | 0/0 | 16357 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0014c0020t0023 | 0/0 | 16357 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0015c0016t0026 | 0/0 | 16355 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16350): Show |
chr1 | 12225030 | 12517047 |
| a0016c0018t0001 | 0/0 | 16357 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0017c0019t0001 | 0/0 | 16357 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16352): Show |
chr1 | 12225030 | 12517047 |
| a0018c0015t0024 | 0/0 | 16355 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | CTGAG others(16350): Show |
chr1 | 12225030 | 12517047 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0001g0020 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0001g0022 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0001g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0001g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0001g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0001g0085 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0001g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0001g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0001g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0001g0091 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0001g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0001g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0001g0098 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0001g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0001g0104 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0001g0106 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0001g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0001g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0001g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0001g0112 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0001g0113 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0001g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0001g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0001g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0001g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0001g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0001g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0001g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0001g0145 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0001g0146 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0001g0147 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0002g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0002g0038 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0002g0042 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0002g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0002g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0002g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0002g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0004g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0004g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0004g0136 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0004g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0004g0148 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0006g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0006g0130 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0006g0131 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0006g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0006g0138 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0009g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0010g0120 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0011g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0012g0119 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0012g0121 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0015g0069 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0016g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0019g0102 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0020g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0021g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0002t0001g0006 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0002t0001g0089 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0002t0001g0099 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0002t0001g0100 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0002t0001g0115 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0002t0002g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0002t0002g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0002t0002g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0002t0002g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0002t0002g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0002t0002g0040 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0002t0002g0041 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0002t0002g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0002t0004g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0002t0007g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0002t0008g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0002t0009g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0002t0009g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0002t0009g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0002t0009g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0002t0015g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0002t0027g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0003t0001g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0003t0002g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0003t0002g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0003t0002g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0003t0005g0048 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0003t0005g0049 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0003t0005g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0003t0005g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0003t0005g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0003t0005g0053 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0003t0016g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0003t0017g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0005t0001g0132 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0005t0002g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0005t0002g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0005t0002g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0005t0004g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0005t0004g0111 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0006t0003g0004 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0006t0003g0007 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0006t0003g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0006t0003g0013 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0006t0010g0003 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0006t0010g0010 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0008t0003g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0008t0003g0008 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0008t0003g0011 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0008t0003g0012 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0008t0003g0079 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0009t0004g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0009t0008g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0009t0022g0076 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0011t0011g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0011t0018g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0012t0002g0074 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0012t0008g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0013t0001g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0013t0001g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0014t0012g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0021t0013g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0024t0001g0127 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0002c0004t0001g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0002c0004t0001g0090 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0002c0004t0001g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0002c0004t0001g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0002c0004t0001g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0002c0004t0001g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0002c0004t0001g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0002c0004t0001g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0002c0004t0025g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0002c0032t0001g0021 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0003c0007t0007g0150 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0003c0007t0007g0151 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0003c0007t0007g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0003c0007t0007g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0003c0007t0007g0154 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0004c0030t0014g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0004c0031t0014g0142 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0005c0010t0008g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0005c0010t0008g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0006c0025t0003g0005 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0007c0029t0011g0144 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0008c0026t0006g0128 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0009c0022t0002g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0010c0017t0001g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0011c0023t0002g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0012c0028t0013g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0013c0027t0001g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0014c0020t0023g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0015c0016t0026g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0016c0018t0001g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0017c0019t0001g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0018c0015t0024g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00408 | hp1 | a0001 | c0014 | t0012 | g0075 | EAS | CHS | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG00408 | hp2 | a0001 | c0001 | t0009 | g0027 | EAS | CHS | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG00438 | hp1 | a0001 | c0001 | t0006 | g0129 | EAS | CHS | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG00438 | hp2 | a0001 | c0002 | t0009 | g0014 | EAS | CHS | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG01071 | hp1 | a0002 | c0004 | t0001 | g0094 | AMR | PUR | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG01071 | hp2 | a0001 | c0001 | t0019 | g0102 | AMR | PUR | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG01099 | hp1 | a0002 | c0004 | t0001 | g0095 | AMR | PUR | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG01099 | hp2 | a0001 | c0006 | t0003 | g0004 | AMR | PUR | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG01106 | hp1 | a0001 | c0001 | t0015 | g0069 | AMR | PUR | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG01106 | hp2 | a0001 | c0001 | t0001 | g0085 | AMR | PUR | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG01109 | hp1 | a0003 | c0007 | t0007 | g0150 | AMR | PUR | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG01109 | hp2 | a0001 | c0001 | t0001 | g0104 | AMR | PUR | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG01243 | hp1 | a0001 | c0008 | t0003 | g0011 | AMR | PUR | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG01243 | hp2 | a0001 | c0012 | t0002 | g0074 | AMR | PUR | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG01255 | hp1 | a0001 | c0002 | t0001 | g0100 | AMR | CLM | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG01255 | hp2 | a0001 | c0009 | t0022 | g0076 | AMR | CLM | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG01256 | hp1 | a0001 | c0003 | t0005 | g0053 | AMR | CLM | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG01256 | hp2 | a0001 | c0001 | t0012 | g0119 | AMR | CLM | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG01346 | hp1 | a0001 | c0003 | t0005 | g0048 | AMR | CLM | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG01346 | hp2 | a0001 | c0006 | t0003 | g0007 | AMR | CLM | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG01361 | hp1 | a0001 | c0008 | t0003 | g0012 | AMR | CLM | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG01361 | hp2 | a0001 | c0001 | t0006 | g0138 | AMR | CLM | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG01433 | hp1 | a0001 | c0001 | t0001 | g0022 | AMR | CLM | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG01433 | hp2 | a0006 | c0025 | t0003 | g0005 | AMR | CLM | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG01884 | hp1 | a0003 | c0007 | t0007 | g0153 | AFR | ACB | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG01884 | hp2 | a0001 | c0005 | t0004 | g0060 | AFR | ACB | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG01891 | hp1 | a0001 | c0001 | t0001 | g0023 | AFR | ACB | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG01891 | hp2 | a0007 | c0029 | t0011 | g0144 | AFR | ACB | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG01928 | hp1 | a0001 | c0008 | t0003 | g0008 | AMR | PEL | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG01928 | hp2 | a0008 | c0026 | t0006 | g0128 | AMR | PEL | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG01943 | hp1 | a0001 | c0002 | t0001 | g0006 | AMR | PEL | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG01943 | hp2 | a0001 | c0001 | t0001 | g0113 | AMR | PEL | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG01993 | hp1 | a0001 | c0006 | t0003 | g0013 | AMR | PEL | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG01993 | hp2 | a0001 | c0001 | t0006 | g0131 | AMR | PEL | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02004 | hp1 | a0001 | c0001 | t0012 | g0121 | AMR | PEL | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02004 | hp2 | a0001 | c0001 | t0006 | g0130 | AMR | PEL | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02056 | hp1 | a0009 | c0022 | t0002 | g0033 | EAS | KHV | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02056 | hp2 | a0002 | c0004 | t0001 | g0096 | EAS | KHV | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02071 | hp1 | a0010 | c0017 | t0001 | g0083 | EAS | KHV | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02071 | hp2 | a0001 | c0002 | t0008 | g0044 | EAS | KHV | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02083 | hp1 | a0001 | c0001 | t0001 | g0116 | EAS | KHV | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02083 | hp2 | a0001 | c0001 | t0002 | g0072 | EAS | KHV | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02132 | hp1 | a0001 | c0001 | t0001 | g0084 | EAS | KHV | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02132 | hp2 | a0001 | c0008 | t0003 | g0002 | EAS | KHV | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02165 | hp1 | a0001 | c0002 | t0002 | g0045 | EAS | CDX | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02165 | hp2 | a0001 | c0001 | t0001 | g0114 | EAS | CDX | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02273 | hp1 | a0001 | c0003 | t0005 | g0049 | AMR | PEL | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02273 | hp2 | a0001 | c0001 | t0001 | g0112 | AMR | PEL | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02300 | hp1 | a0001 | c0024 | t0001 | g0127 | AMR | PEL | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02300 | hp2 | a0001 | c0001 | t0001 | g0106 | AMR | PEL | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02523 | hp1 | a0001 | c0002 | t0002 | g0039 | EAS | KHV | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02523 | hp2 | a0001 | c0001 | t0001 | g0125 | EAS | KHV | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02572 | hp1 | a0001 | c0001 | t0021 | g0122 | AFR | GWD | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02572 | hp2 | a0001 | c0005 | t0002 | g0059 | AFR | GWD | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02622 | hp1 | a0003 | c0007 | t0007 | g0151 | AFR | GWD | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02622 | hp2 | a0001 | c0002 | t0007 | g0066 | AFR | GWD | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02683 | hp1 | a0002 | c0004 | t0001 | g0090 | SAS | PJL | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02683 | hp2 | a0001 | c0005 | t0004 | g0111 | SAS | PJL | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02698 | hp1 | a0001 | c0006 | t0010 | g0003 | SAS | PJL | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02698 | hp2 | a0001 | c0001 | t0001 | g0091 | SAS | PJL | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02717 | hp1 | a0004 | c0030 | t0014 | g0143 | AFR | GWD | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02717 | hp2 | a0001 | c0001 | t0020 | g0078 | AFR | GWD | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02735 | hp1 | a0001 | c0001 | t0002 | g0038 | SAS | PJL | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02735 | hp2 | a0002 | c0032 | t0001 | g0021 | SAS | PJL | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02738 | hp1 | a0001 | c0005 | t0001 | g0132 | SAS | PJL | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02738 | hp2 | a0001 | c0001 | t0004 | g0136 | SAS | PJL | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02809 | hp1 | a0001 | c0005 | t0002 | g0068 | AFR | GWD | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02809 | hp2 | a0005 | c0010 | t0008 | g0070 | AFR | GWD | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02895 | hp1 | a0001 | c0011 | t0011 | g0016 | AFR | GWD | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02895 | hp2 | a0001 | c0001 | t0002 | g0140 | AFR | GWD | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02965 | hp1 | a0001 | c0001 | t0001 | g0037 | AFR | ESN | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02965 | hp2 | a0001 | c0003 | t0001 | g0058 | AFR | ESN | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02970 | hp1 | a0001 | c0001 | t0016 | g0032 | AFR | ESN | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02970 | hp2 | a0001 | c0001 | t0004 | g0082 | AFR | ESN | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02976 | hp1 | a0003 | c0007 | t0007 | g0152 | AFR | ESN | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02976 | hp2 | a0001 | c0001 | t0001 | g0108 | AFR | ESN | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG03017 | hp1 | a0001 | c0001 | t0002 | g0042 | SAS | PJL | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG03017 | hp2 | a0001 | c0001 | t0001 | g0146 | SAS | PJL | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG03098 | hp1 | a0002 | c0004 | t0001 | g0103 | AFR | MSL | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG03098 | hp2 | a0001 | c0002 | t0004 | g0047 | AFR | MSL | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG03130 | hp1 | a0003 | c0007 | t0007 | g0154 | AFR | ESN | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG03130 | hp2 | a0001 | c0001 | t0001 | g0088 | AFR | ESN | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG03195 | hp1 | a0001 | c0013 | t0001 | g0065 | AFR | ESN | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG03195 | hp2 | a0004 | c0031 | t0014 | g0142 | AFR | ESN | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG03225 | hp1 | a0001 | c0011 | t0018 | g0015 | AFR | MSL | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG03225 | hp2 | a0011 | c0023 | t0002 | g0036 | AFR | MSL | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG03486 | hp1 | a0012 | c0028 | t0013 | g0141 | AFR | MSL | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG03486 | hp2 | a0001 | c0001 | t0001 | g0123 | AFR | MSL | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG03491 | hp1 | a0001 | c0001 | t0001 | g0147 | SAS | PJL | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG03491 | hp2 | a0001 | c0002 | t0002 | g0041 | SAS | PJL | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG03492 | hp1 | a0001 | c0002 | t0002 | g0040 | SAS | PJL | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG03492 | hp2 | a0001 | c0001 | t0010 | g0120 | SAS | PJL | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG03516 | hp1 | a0001 | c0013 | t0001 | g0073 | AFR | ESN | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG03516 | hp2 | a0001 | c0002 | t0015 | g0057 | AFR | ESN | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG03540 | hp1 | a0013 | c0027 | t0001 | g0105 | AFR | GWD | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG03540 | hp2 | a0001 | c0021 | t0013 | g0046 | AFR | GWD | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG03579 | hp1 | a0001 | c0009 | t0004 | g0018 | AFR | MSL | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG03579 | hp2 | a0001 | c0003 | t0002 | g0061 | AFR | MSL | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG04115 | hp1 | a0001 | c0008 | t0003 | g0079 | SAS | STU | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG04115 | hp2 | a0001 | c0002 | t0001 | g0089 | SAS | STU | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG04204 | hp1 | a0001 | c0001 | t0001 | g0098 | SAS | STU | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG04204 | hp2 | a0001 | c0006 | t0010 | g0010 | SAS | STU | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA18522 | hp1 | a0001 | c0012 | t0008 | g0067 | AFR | YRI | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA18522 | hp2 | a0001 | c0001 | t0004 | g0148 | AFR | YRI | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA18906 | hp1 | a0001 | c0003 | t0016 | g0063 | AFR | YRI | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA18906 | hp2 | a0015 | c0016 | t0026 | g0149 | AFR | YRI | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA18943 | hp1 | a0002 | c0004 | t0001 | g0081 | EAS | JPT | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA18943 | hp2 | a0001 | c0002 | t0009 | g0030 | EAS | JPT | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA18947 | hp1 | a0001 | c0006 | t0003 | g0009 | EAS | JPT | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA18947 | hp2 | a0002 | c0004 | t0025 | g0118 | EAS | JPT | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA18951 | hp1 | a0001 | c0003 | t0002 | g0056 | EAS | JPT | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA18951 | hp2 | a0002 | c0004 | t0001 | g0135 | EAS | JPT | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA18959 | hp1 | a0001 | c0001 | t0001 | g0101 | EAS | JPT | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA18959 | hp2 | a0001 | c0001 | t0002 | g0043 | EAS | JPT | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA18968 | hp1 | a0016 | c0018 | t0001 | g0080 | EAS | JPT | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA18968 | hp2 | a0001 | c0001 | t0002 | g0034 | EAS | JPT | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA18971 | hp1 | a0001 | c0001 | t0001 | g0110 | EAS | JPT | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA18971 | hp2 | a0001 | c0003 | t0005 | g0051 | EAS | JPT | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA18974 | hp1 | a0001 | c0002 | t0002 | g0035 | EAS | JPT | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA18974 | hp2 | a0001 | c0001 | t0006 | g0137 | EAS | JPT | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA18977 | hp1 | a0001 | c0003 | t0017 | g0054 | EAS | JPT | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA18977 | hp2 | a0001 | c0001 | t0004 | g0139 | EAS | JPT | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA19000 | hp1 | a0002 | c0004 | t0001 | g0133 | EAS | JPT | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA19000 | hp2 | a0001 | c0002 | t0009 | g0025 | EAS | JPT | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA19001 | hp1 | a0001 | c0001 | t0002 | g0064 | EAS | JPT | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA19001 | hp2 | a0001 | c0001 | t0001 | g0134 | EAS | JPT | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA19010 | hp1 | a0001 | c0001 | t0001 | g0086 | EAS | JPT | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA19010 | hp2 | a0001 | c0003 | t0005 | g0050 | EAS | JPT | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA19012 | hp1 | a0001 | c0001 | t0001 | g0117 | EAS | JPT | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA19012 | hp2 | a0001 | c0002 | t0002 | g0024 | EAS | JPT | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA19043 | hp1 | a0005 | c0010 | t0008 | g0071 | AFR | LWK | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA19043 | hp2 | a0001 | c0001 | t0011 | g0107 | AFR | LWK | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA19057 | hp1 | a0001 | c0002 | t0027 | g0031 | EAS | JPT | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA19057 | hp2 | a0001 | c0001 | t0004 | g0126 | EAS | JPT | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA19063 | hp1 | a0001 | c0002 | t0009 | g0026 | EAS | JPT | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA19063 | hp2 | a0001 | c0001 | t0001 | g0109 | EAS | JPT | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA19066 | hp1 | a0001 | c0003 | t0005 | g0052 | EAS | JPT | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA19066 | hp2 | a0017 | c0019 | t0001 | g0093 | EAS | JPT | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA19068 | hp1 | a0001 | c0002 | t0002 | g0029 | EAS | JPT | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA19068 | hp2 | a0001 | c0001 | t0001 | g0097 | EAS | JPT | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA19070 | hp1 | a0001 | c0001 | t0001 | g0092 | EAS | JPT | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA19070 | hp2 | a0001 | c0003 | t0002 | g0055 | EAS | JPT | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA19079 | hp1 | a0001 | c0002 | t0002 | g0028 | EAS | JPT | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA19079 | hp2 | a0001 | c0001 | t0001 | g0087 | EAS | JPT | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA19240 | hp1 | a0001 | c0001 | t0001 | g0124 | AFR | YRI | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA19240 | hp2 | a0018 | c0015 | t0024 | g0001 | AFR | YRI | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA20905 | hp1 | a0001 | c0001 | t0001 | g0145 | SAS | GIH | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA20905 | hp2 | a0001 | c0002 | t0001 | g0099 | SAS | GIH | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02486 | hp1 | a0001 | c0001 | t0001 | g0019 | AFR | ACB | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02486 | hp2 | a0001 | c0005 | t0002 | g0062 | AFR | ACB | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG06807 | hp1 | a0001 | c0009 | t0008 | g0017 | AFR | USA | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG06807 | hp2 | a0014 | c0020 | t0023 | g0077 | AFR | USA | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| homoSapiens | chm13v2 | a0001 | c0001 | t0001 | g0020 | REF | REF | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| homoSapiens | grch38p0 | a0001 | c0002 | t0001 | g0115 | REF | REF | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| view | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:12249306 | G | C | 1 | a0018 | 1 | NA19240.hp2 | missense_variant | MODERATE | c.531G>C | p.Lys177Asn | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 6/70 | 698/16357 | 531/13167 | 177/4388 | chr1 | 12249306 | |||
| chr1:12256336 | G | A | 2 | a0003 a0015 |
6 | HG01109.hp1 HG01884.hp1 HG02622.hp1 others(3): Show |
missense_variant | MODERATE | c.673G>A | p.Ala225Thr | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 8/70 | 840/16357 | 673/13167 | 225/4388 | chr1 | 12256336 | |||
| chr1:12257970 | A | G | 1 | a0005 | 2 | HG02809.hp2 NA19043.hp1 |
missense_variant | MODERATE | c.977A>G | p.Asn326Ser | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 10/70 | 1144/16357 | 977/13167 | 326/4388 | chr1 | 12257970 | |||
| chr1:12258000 | G | A | 1 | a0010 | 1 | HG02071.hp1 | missense_variant | MODERATE | c.1007G>A | p.Arg336His | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 10/70 | 1174/16357 | 1007/13167 | 336/4388 | chr1 | 12258000 | |||
| chr1:12260696 | G | A | 1 | a0016 | 1 | NA18968.hp1 | missense_variant | MODERATE | c.1114G>A | p.Glu372Lys | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 11/70 | 1281/16357 | 1114/13167 | 372/4388 | chr1 | 12260696 | |||
| chr1:12268757 | C | T | 1 | a0015 | 1 | NA18906.hp2 | missense_variant | MODERATE | c.1853C>T | p.Ala618Val | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 16/70 | 2020/16357 | 1853/13167 | 618/4388 | chr1 | 12268757 | |||
| chr1:12276077 | G | A | 1 | a0017 | 1 | NA19066.hp2 | missense_variant | MODERATE | c.2489G>A | p.Arg830Gln | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 19/70 | 2656/16357 | 2489/13167 | 830/4388 | chr1 | 12276077 | |||
| chr1:12276760 | C | G | 3 | a0004 a0007 a0012 |
4 | HG01891.hp2 HG02717.hp1 HG03195.hp2 others(1): Show |
missense_variant | MODERATE | c.3172C>G | p.Leu1058Val | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 19/70 | 3339/16357 | 3172/13167 | 1058/4388 | chr1 | 12276760 | |||
| chr1:12277757 | G | A | 1 | a0012 | 1 | HG03486.hp1 | missense_variant | MODERATE | c.4169G>A | p.Arg1390Gln | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 19/70 | 4336/16357 | 4169/13167 | 1390/4388 | chr1 | 12277757 | |||
| chr1:12279562 | A | T | 2 | a0002 a0017 |
11 | HG01071.hp1 HG01099.hp1 HG02056.hp2 others(8): Show |
missense_variant | MODERATE | c.4514A>T | p.Glu1505Val | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 20/70 | 4681/16357 | 4514/13167 | 1505/4388 | chr1 | 12279562 | |||
| chr1:12282874 | A | T | 1 | a0013 | 1 | HG03540.hp1 | missense_variant | MODERATE | c.4772A>T | p.Asn1591Ile | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/70 | 4939/16357 | 4772/13167 | 1591/4388 | chr1 | 12282874 | |||
| chr1:12283372 | A | T | 1 | a0014 | 1 | HG06807.hp2 | missense_variant | MODERATE | c.5270A>T | p.Asp1757Val | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/70 | 5437/16357 | 5270/13167 | 1757/4388 | chr1 | 12283372 | |||
| chr1:12283390 | C | A | 1 | a0009 | 1 | HG02056.hp1 | missense_variant | MODERATE | c.5288C>A | p.Pro1763His | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/70 | 5455/16357 | 5288/13167 | 1763/4388 | chr1 | 12283390 | |||
| chr1:12288263 | A | T | 1 | a0008 | 1 | HG01928.hp2 | missense_variant | MODERATE | c.5675A>T | p.Glu1892Val | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 22/70 | 5842/16357 | 5675/13167 | 1892/4388 | chr1 | 12288263 | |||
| chr1:12348973 | A | G | 1 | a0006 | 1 | HG01433.hp2 | missense_variant&splice_region_variant | MODERATE | c.9220A>G | p.Lys3074Glu | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 45/70 | 9387/16357 | 9220/13167 | 3074/4388 | chr1 | 12348973 | |||
| chr1:12355961 | T | C | 1 | a0011 | 1 | HG03225.hp2 | missense_variant | MODERATE | c.9742T>C | p.Tyr3248His | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 48/70 | 9909/16357 | 9742/13167 | 3248/4388 | chr1 | 12355961 | |||
| chr1:12507073 | C | G | 2 | a0004 a0012 |
3 | HG02717.hp1 HG03195.hp2 HG03486.hp1 |
missense_variant | MODERATE | c.13015C>G | p.Pro4339Ala | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 69/70 | 13182/16357 | 13015/13167 | 4339/4388 | chr1 | 12507073 |
| view | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:12244253 | T | C | 1 | a0001c0014 | 1 | HG00408.hp1 | synonymous_variant | LOW | c.183T>C | p.Ile61Ile | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 4/70 | 350/16357 | 183/13167 | 61/4388 | chr1 | 12244253 | |||
| chr1:12257064 | A | G | 1 | a0002c0032 | 1 | HG02735.hp2 | synonymous_variant | LOW | c.918A>G | p.Lys306Lys | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 9/70 | 1085/16357 | 918/13167 | 306/4388 | chr1 | 12257064 | |||
| chr1:12257968 | T | C | 1 | a0005c0010 | 2 | HG02809.hp2 NA19043.hp1 |
synonymous_variant | LOW | c.975T>C | p.Ala325Ala | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 10/70 | 1142/16357 | 975/13167 | 325/4388 | chr1 | 12257968 | |||
| chr1:12273030 | C | T | 5 | a0004c0030 a0004c0031 a0007c0029 others(2): Show |
5 | HG01891.hp2 HG02717.hp1 HG03195.hp2 others(2): Show |
synonymous_variant | LOW | c.2131C>T | p.Leu711Leu | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 18/70 | 2298/16357 | 2131/13167 | 711/4388 | chr1 | 12273030 | |||
| chr1:12276090 | T | C | 6 | a0001c0009 a0004c0030 a0004c0031 others(3): Show |
8 | HG01255.hp2 HG01891.hp2 HG02717.hp1 others(5): Show |
synonymous_variant | LOW | c.2502T>C | p.Asn834Asn | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 19/70 | 2669/16357 | 2502/13167 | 834/4388 | chr1 | 12276090 | |||
| chr1:12277254 | T | C | 1 | a0001c0021 | 1 | HG03540.hp2 | synonymous_variant | LOW | c.3666T>C | p.Leu1222Leu | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 19/70 | 3833/16357 | 3666/13167 | 1222/4388 | chr1 | 12277254 | |||
| chr1:12277879 | C | T | 5 | a0004c0030 a0004c0031 a0007c0029 others(2): Show |
5 | HG01891.hp2 HG02717.hp1 HG03195.hp2 others(2): Show |
synonymous_variant | LOW | c.4291C>T | p.Leu1431Leu | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 19/70 | 4458/16357 | 4291/13167 | 1431/4388 | chr1 | 12277879 | |||
| chr1:12277959 | C | T | 5 | a0004c0030 a0004c0031 a0007c0029 others(2): Show |
5 | HG01891.hp2 HG02717.hp1 HG03195.hp2 others(2): Show |
synonymous_variant | LOW | c.4371C>T | p.Ser1457Ser | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 19/70 | 4538/16357 | 4371/13167 | 1457/4388 | chr1 | 12277959 | |||
| chr1:12322694 | C | T | 3 | a0001c0006 a0001c0008 a0006c0025 |
12 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(9): Show |
synonymous_variant | LOW | c.7863C>T | p.Arg2621Arg | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 34/70 | 8030/16357 | 7863/13167 | 2621/4388 | chr1 | 12322694 | |||
| chr1:12327709 | C | T | 1 | a0001c0013 | 2 | HG03195.hp1 HG03516.hp1 |
synonymous_variant | LOW | c.8052C>T | p.Ser2684Ser | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 36/70 | 8219/16357 | 8052/13167 | 2684/4388 | chr1 | 12327709 | |||
| chr1:12329896 | T | C | 2 | a0001c0009 a0014c0020 |
4 | HG01255.hp2 HG03579.hp1 HG06807.hp1 others(1): Show |
synonymous_variant | LOW | c.8265T>C | p.Asp2755Asp | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 37/70 | 8432/16357 | 8265/13167 | 2755/4388 | chr1 | 12329896 | |||
| chr1:12333278 | G | A | 4 | a0001c0011 a0003c0007 a0007c0029 others(1): Show |
9 | HG01109.hp1 HG01884.hp1 HG01891.hp2 others(6): Show |
synonymous_variant | LOW | c.8340G>A | p.Gln2780Gln | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 38/70 | 8507/16357 | 8340/13167 | 2780/4388 | chr1 | 12333278 | |||
| chr1:12341811 | A | C | 24 | a0001c0001 a0001c0003 a0001c0008 others(21): Show |
113 | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(110): Show |
synonymous_variant | LOW | c.8658A>C | p.Pro2886Pro | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 41/70 | 8825/16357 | 8658/13167 | 2886/4388 | chr1 | 12341811 | |||
| chr1:12362802 | A | G | 1 | a0001c0024 | 1 | HG02300.hp1 | synonymous_variant | LOW | c.10224A>G | p.Lys3408Lys | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 51/70 | 10391/16357 | 10224/13167 | 3408/4388 | chr1 | 12362802 | |||
| chr1:12369556 | C | T | 3 | a0001c0003 a0001c0005 a0011c0023 |
19 | HG01256.hp1 HG01346.hp1 HG01884.hp2 others(16): Show |
synonymous_variant | LOW | c.10662C>T | p.Asp3554Asp | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 54/70 | 10829/16357 | 10662/13167 | 3554/4388 | chr1 | 12369556 | |||
| chr1:12400267 | C | A | 1 | a0001c0012 | 2 | HG01243.hp2 NA18522.hp1 |
synonymous_variant | LOW | c.11721C>A | p.Gly3907Gly | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 61/70 | 11888/16357 | 11721/13167 | 3907/4388 | chr1 | 12400267 |
| view | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:12230053 | T | C | 2 | a0001c0003t0005 a0001c0003t0017 |
7 | HG01256.hp1 HG01346.hp1 HG02273.hp1 others(4): Show |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-144T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 1/70 | chr1 | 12230053 | |||||||
| chr1:12230088 | C | G | 23 | a0001c0001t0002 a0001c0001t0009 a0001c0001t0015 others(20): Show |
53 | HG00408.hp2 HG00438.hp2 HG01106.hp1 others(50): Show |
5_prime_UTR_variant | MODIFIER | c.-109C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 1/70 | 4179 | chr1 | 12230088 | ||||||
| chr1:12509036 | T | C | 10 | a0001c0001t0010 a0001c0006t0003 a0001c0006t0010 others(7): Show |
18 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(15): Show |
3_prime_UTR_variant | MODIFIER | c.*12T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 70/70 | 12 | chr1 | 12509036 | ||||||
| chr1:12509075 | G | A | 2 | a0001c0001t0010 a0001c0006t0010 |
3 | HG02698.hp1 HG03492.hp2 HG04204.hp2 |
3_prime_UTR_variant | MODIFIER | c.*51G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 70/70 | 51 | chr1 | 12509075 | ||||||
| chr1:12509190 | G | A | 1 | a0001c0011t0018 | 1 | HG03225.hp1 | 3_prime_UTR_variant | MODIFIER | c.*166G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 70/70 | 166 | chr1 | 12509190 | ||||||
| chr1:12509304 | C | T | 3 | a0001c0001t0012 a0001c0014t0012 a0002c0004t0025 |
4 | HG00408.hp1 HG01256.hp2 HG02004.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*280C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 70/70 | 280 | chr1 | 12509304 | ||||||
| chr1:12509580 | C | T | 3 | a0001c0001t0016 a0001c0003t0016 a0018c0015t0024 |
3 | HG02970.hp1 NA18906.hp1 NA19240.hp2 |
3_prime_UTR_variant | MODIFIER | c.*556C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 70/70 | 556 | chr1 | 12509580 | ||||||
| chr1:12509621 | G | A | 1 | a0001c0001t0019 | 1 | HG01071.hp2 | 3_prime_UTR_variant | MODIFIER | c.*597G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 70/70 | 597 | chr1 | 12509621 | ||||||
| chr1:12509735 | A | T | 37 | a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 others(34): Show |
79 | HG00408.hp2 HG00438.hp2 HG01099.hp2 others(76): Show |
3_prime_UTR_variant | MODIFIER | c.*711A>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 70/70 | 711 | chr1 | 12509735 | ||||||
| chr1:12509819 | G | A | 5 | a0001c0001t0010 a0001c0006t0003 a0001c0006t0010 others(2): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
3_prime_UTR_variant | MODIFIER | c.*795G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 70/70 | 795 | chr1 | 12509819 | ||||||
| chr1:12509825 | A | G | 1 | a0001c0001t0021 | 1 | HG02572.hp1 | 3_prime_UTR_variant | MODIFIER | c.*801A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 70/70 | 801 | chr1 | 12509825 | ||||||
| chr1:12509867 | A | G | 5 | a0001c0001t0010 a0001c0006t0003 a0001c0006t0010 others(2): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
3_prime_UTR_variant | MODIFIER | c.*843A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 70/70 | 843 | chr1 | 12509867 | ||||||
| chr1:12509900 | A | G | 5 | a0001c0001t0010 a0001c0006t0003 a0001c0006t0010 others(2): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
3_prime_UTR_variant | MODIFIER | c.*876A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 70/70 | 876 | chr1 | 12509900 | ||||||
| chr1:12510023 | G | T | 2 | a0001c0001t0009 a0001c0002t0009 |
5 | HG00408.hp2 HG00438.hp2 NA18943.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*999G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 70/70 | 999 | chr1 | 12510023 | ||||||
| chr1:12510149 | G | A | 5 | a0001c0021t0013 a0004c0030t0014 a0004c0031t0014 others(2): Show |
5 | HG02717.hp1 HG03195.hp2 HG03486.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*1125G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 70/70 | 1125 | chr1 | 12510149 | ||||||
| chr1:12510164 | A | G | 5 | a0001c0001t0010 a0001c0006t0003 a0001c0006t0010 others(2): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
3_prime_UTR_variant | MODIFIER | c.*1140A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 70/70 | 1140 | chr1 | 12510164 | ||||||
| chr1:12510171 | T | A | 2 | a0001c0001t0012 a0001c0014t0012 |
3 | HG00408.hp1 HG01256.hp2 HG02004.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1147T>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 70/70 | 1147 | chr1 | 12510171 | ||||||
| chr1:12510172 | C | A | 2 | a0001c0001t0012 a0001c0014t0012 |
3 | HG00408.hp1 HG01256.hp2 HG02004.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1148C>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 70/70 | 1148 | chr1 | 12510172 | ||||||
| chr1:12510290 | G | A | 1 | a0001c0009t0022 | 1 | HG01255.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1266G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 70/70 | 1266 | chr1 | 12510290 | ||||||
| chr1:12510492 | C | G | 3 | a0001c0001t0006 a0001c0002t0027 a0008c0026t0006 |
7 | HG00438.hp1 HG01361.hp2 HG01928.hp2 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*1468C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 70/70 | 1468 | chr1 | 12510492 | ||||||
| chr1:12510523 | GTC | G | 3 | a0001c0001t0016 a0001c0003t0016 a0018c0015t0024 |
3 | HG02970.hp1 NA18906.hp1 NA19240.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1501_*1502delCT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 70/70 | 1501 | INFO_REALIGN_3_PRIME | chr1 | 12510523 | |||||
| chr1:12510525 | C | CTG | 9 | a0001c0001t0001 a0001c0001t0012 a0001c0002t0007 others(6): Show |
15 | HG00408.hp1 HG01109.hp1 HG01256.hp2 others(12): Show |
3_prime_UTR_variant | MODIFIER | c.*1530_*1531dupTG | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 70/70 | 1532 | INFO_REALIGN_3_PRIME | chr1 | 12510525 | |||||
| chr1:12510525 | C | CTGTG | 5 | a0001c0001t0011 a0001c0006t0003 a0001c0006t0010 others(2): Show |
5 | HG02132.hp2 HG03225.hp1 HG04204.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*1528_*1531dupTGTG | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 70/70 | 1532 | INFO_REALIGN_3_PRIME | chr1 | 12510525 | |||||
| chr1:12510525 | C | CTGTGTG | 4 | a0001c0001t0004 a0001c0001t0010 a0001c0008t0003 others(1): Show |
7 | HG01243.hp1 HG01243.hp2 HG01361.hp1 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*1526_*1531dupTGTG others(2): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 70/70 | 1532 | INFO_REALIGN_3_PRIME | chr1 | 12510525 | |||||
| chr1:12510525 | C | CTGTGTGT others(1): Show |
2 | a0001c0006t0003 a0006c0025t0003 |
4 | HG01099.hp2 HG01346.hp2 HG01433.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*1524_*1531dupTGTG others(4): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 70/70 | 1532 | INFO_REALIGN_3_PRIME | chr1 | 12510525 | |||||
| chr1:12510525 | CTG | C | 8 | a0001c0001t0001 a0001c0001t0015 a0001c0002t0001 others(5): Show |
12 | HG01106.hp1 HG01109.hp2 HG01928.hp2 others(9): Show |
3_prime_UTR_variant | MODIFIER | c.*1530_*1531delTG | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 70/70 | 1530 | INFO_REALIGN_3_PRIME | chr1 | 12510525 | |||||
| chr1:12510525 | CTGTG | C | 7 | a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 others(4): Show |
22 | HG00408.hp2 HG00438.hp2 HG02056.hp1 others(19): Show |
3_prime_UTR_variant | MODIFIER | c.*1528_*1531delTGTG | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 70/70 | 1528 | INFO_REALIGN_3_PRIME | chr1 | 12510525 | |||||
| chr1:12510531 | G | C | 1 | a0001c0001t0020 | 1 | HG02717.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1507G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 70/70 | 1507 | chr1 | 12510531 | ||||||
| chr1:12510552 | T | C | 1 | a0002c0004t0025 | 1 | NA18947.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1528T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 70/70 | 1528 | chr1 | 12510552 | ||||||
| chr1:12510554 | T | C | 2 | a0001c0003t0002 a0001c0009t0004 |
3 | HG03579.hp1 NA18951.hp1 NA19070.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1530T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 70/70 | 1530 | chr1 | 12510554 | ||||||
| chr1:12510554 | T | TGC | 2 | a0001c0013t0001 a0005c0010t0008 |
4 | HG02809.hp2 HG03195.hp1 HG03516.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*1542_*1543dupCG | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 70/70 | 1544 | INFO_REALIGN_3_PRIME | chr1 | 12510554 | |||||
| chr1:12510556 | C | T | 7 | a0001c0001t0004 a0001c0001t0010 a0001c0005t0004 others(4): Show |
14 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(11): Show |
3_prime_UTR_variant | MODIFIER | c.*1532C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 70/70 | 1532 | chr1 | 12510556 | ||||||
| chr1:12510566 | C | T | 2 | a0001c0001t0015 a0001c0002t0015 |
2 | HG01106.hp1 HG03516.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1542C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 70/70 | 1542 | chr1 | 12510566 | ||||||
| chr1:12510566 | CGT | C | 3 | a0001c0021t0013 a0012c0028t0013 a0015c0016t0026 |
3 | HG03486.hp1 HG03540.hp2 NA18906.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1544_*1545delTG | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 70/70 | 1544 | INFO_REALIGN_3_PRIME | chr1 | 12510566 | |||||
| chr1:12510568 | T | C | 7 | a0001c0001t0010 a0001c0006t0003 a0001c0006t0010 others(4): Show |
15 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(12): Show |
3_prime_UTR_variant | MODIFIER | c.*1544T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 70/70 | 1544 | chr1 | 12510568 | ||||||
| chr1:12510973 | A | G | 1 | a0014c0020t0023 | 1 | HG06807.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1949A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 70/70 | 1949 | chr1 | 12510973 | ||||||
| chr1:12511587 | G | A | 6 | a0001c0001t0011 a0001c0002t0007 a0001c0011t0011 others(3): Show |
10 | HG01109.hp1 HG01884.hp1 HG01891.hp2 others(7): Show |
3_prime_UTR_variant | MODIFIER | c.*2563G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 70/70 | 2563 | chr1 | 12511587 | ||||||
| chr1:12511592 | A | C | 3 | a0001c0001t0016 a0001c0003t0016 a0018c0015t0024 |
3 | HG02970.hp1 NA18906.hp1 NA19240.hp2 |
3_prime_UTR_variant | MODIFIER | c.*2568A>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 70/70 | 2568 | chr1 | 12511592 | ||||||
| chr1:12511942 | A | G | 2 | a0001c0001t0012 a0001c0014t0012 |
3 | HG00408.hp1 HG01256.hp2 HG02004.hp1 |
3_prime_UTR_variant | MODIFIER | c.*2918A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 70/70 | 2918 | chr1 | 12511942 | ||||||
| chr1:12511951 | T | G | 1 | a0014c0020t0023 | 1 | HG06807.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2927T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 70/70 | 2927 | chr1 | 12511951 |
| view | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:12230130 | G | T | 6 | a0003c0007t0007g0150 a0003c0007t0007g0151 a0003c0007t0007g0152 others(3): Show |
6 | HG01109.hp1 HG01884.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.-77+10G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 1/69 | chr1 | 12230130 | |||||||
| chr1:12230767 | C | T | 1 | a0001c0001t0004g0148 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.-77+647C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 1/69 | chr1 | 12230767 | |||||||
| chr1:12230775 | C | T | 2 | a0001c0001t0001g0146 a0001c0001t0001g0147 |
2 | HG03017.hp2 HG03491.hp1 |
intron_variant | MODIFIER | c.-77+655C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 1/69 | chr1 | 12230775 | |||||||
| chr1:12230792 | C | G | 1 | a0001c0001t0001g0145 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.-77+672C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 1/69 | chr1 | 12230792 | |||||||
| chr1:12230877 | C | G | 4 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0007c0029t0011g0144 others(1): Show |
4 | HG01891.hp2 HG02717.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.-77+757C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 1/69 | chr1 | 12230877 | |||||||
| chr1:12230949 | C | T | 1 | a0001c0001t0002g0140 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.-77+829C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 1/69 | chr1 | 12230949 | |||||||
| chr1:12231073 | T | C | 17 | a0001c0002t0001g0006 a0001c0006t0003g0004 a0001c0006t0003g0007 others(14): Show |
17 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(14): Show |
intron_variant | MODIFIER | c.-77+953T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 1/69 | chr1 | 12231073 | |||||||
| chr1:12231121 | T | G | 1 | a0001c0002t0009g0014 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.-77+1001T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 1/69 | chr1 | 12231121 | |||||||
| chr1:12231277 | T | G | 9 | a0001c0001t0004g0148 a0001c0009t0004g0018 a0001c0009t0008g0017 others(6): Show |
9 | HG01891.hp2 HG02717.hp1 HG02895.hp1 others(6): Show |
intron_variant | MODIFIER | c.-77+1157T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 1/69 | chr1 | 12231277 | |||||||
| chr1:12231765 | G | A | 4 | a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 others(1): Show |
4 | HG01433.hp1 HG01891.hp1 HG02486.hp1 others(1): Show |
intron_variant | MODIFIER | c.-77+1645G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 1/69 | chr1 | 12231765 | |||||||
| chr1:12231836 | A | T | 1 | a0001c0001t0004g0139 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.-77+1716A>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 1/69 | chr1 | 12231836 | |||||||
| chr1:12231922 | C | T | 1 | a0003c0007t0007g0154 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.-77+1802C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 1/69 | chr1 | 12231922 | |||||||
| chr1:12232055 | T | A | 4 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0007c0029t0011g0144 others(1): Show |
4 | HG01891.hp2 HG02717.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.-77+1935T>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 1/69 | chr1 | 12232055 | |||||||
| chr1:12232154 | G | GA | 59 | a0001c0001t0001g0037 a0001c0001t0002g0034 a0001c0001t0002g0038 others(56): Show |
59 | HG00408.hp2 HG01106.hp1 HG01109.hp1 others(56): Show |
intron_variant | MODIFIER | c.-76-2028dupA | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 1/69 | INFO_REALIGN_3_PRIME | chr1 | 12232154 | ||||||
| chr1:12232217 | G | A | 1 | a0001c0014t0012g0075 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.-76-1974G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 1/69 | chr1 | 12232217 | |||||||
| chr1:12232414 | G | A | 5 | a0001c0001t0004g0148 a0001c0009t0004g0018 a0001c0009t0008g0017 others(2): Show |
5 | HG01255.hp2 HG03579.hp1 HG06807.hp1 others(2): Show |
intron_variant | MODIFIER | c.-76-1777G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 1/69 | chr1 | 12232414 | |||||||
| chr1:12232637 | C | CT | 41 | a0001c0001t0001g0134 a0001c0001t0002g0064 a0001c0001t0004g0136 others(38): Show |
41 | HG01099.hp2 HG01109.hp1 HG01256.hp1 others(38): Show |
intron_variant | MODIFIER | c.-76-1529dupT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 1/69 | INFO_REALIGN_3_PRIME | chr1 | 12232637 | ||||||
| chr1:12232637 | C | CTT | 12 | a0001c0001t0002g0072 a0001c0001t0002g0140 a0001c0001t0015g0069 others(9): Show |
12 | HG01106.hp1 HG01243.hp1 HG01243.hp2 others(9): Show |
intron_variant | MODIFIER | c.-76-1530_-76-1529d others(4): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 1/69 | INFO_REALIGN_3_PRIME | chr1 | 12232637 | ||||||
| chr1:12232900 | A | G | 1 | a0015c0016t0026g0149 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.-76-1291A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 1/69 | chr1 | 12232900 | |||||||
| chr1:12233028 | T | G | 1 | a0018c0015t0024g0001 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.-76-1163T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 1/69 | chr1 | 12233028 | |||||||
| chr1:12233329 | A | G | 8 | a0001c0001t0004g0126 a0001c0001t0006g0129 a0001c0001t0006g0130 others(5): Show |
8 | HG00438.hp1 HG01361.hp2 HG01928.hp2 others(5): Show |
intron_variant | MODIFIER | c.-76-862A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 1/69 | chr1 | 12233329 | |||||||
| chr1:12233555 | G | A | 2 | a0001c0001t0001g0019 a0002c0032t0001g0021 |
2 | HG02486.hp1 HG02735.hp2 |
intron_variant | MODIFIER | c.-76-636G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 1/69 | chr1 | 12233555 | |||||||
| chr1:12233887 | AAAT | A | 9 | a0001c0002t0007g0066 a0001c0012t0002g0074 a0001c0012t0008g0067 others(6): Show |
9 | HG01109.hp1 HG01243.hp2 HG01884.hp1 others(6): Show |
intron_variant | MODIFIER | c.-76-302_-76-300del others(3): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 1/69 | INFO_REALIGN_3_PRIME | chr1 | 12233887 | ||||||
| chr1:12233940 | T | C | 72 | a0001c0001t0001g0037 a0001c0001t0002g0034 a0001c0001t0002g0038 others(69): Show |
72 | HG00408.hp2 HG00438.hp2 HG01099.hp2 others(69): Show |
intron_variant | MODIFIER | c.-76-251T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 1/69 | chr1 | 12233940 | |||||||
| chr1:12233972 | C | T | 1 | a0018c0015t0024g0001 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.-76-219C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 1/69 | chr1 | 12233972 | |||||||
| chr1:12235071 | G | A | 3 | a0001c0006t0010g0003 a0001c0006t0010g0010 a0001c0008t0003g0002 |
3 | HG02132.hp2 HG02698.hp1 HG04204.hp2 |
intron_variant | MODIFIER | c.97+708G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 2/69 | chr1 | 12235071 | |||||||
| chr1:12235131 | T | C | 5 | a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 others(2): Show |
5 | HG01433.hp1 HG01891.hp1 HG02486.hp1 others(2): Show |
intron_variant | MODIFIER | c.97+768T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 2/69 | chr1 | 12235131 | |||||||
| chr1:12235239 | C | T | 2 | a0001c0013t0001g0065 a0001c0013t0001g0073 |
2 | HG03195.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.97+876C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 2/69 | chr1 | 12235239 | |||||||
| chr1:12235260 | C | T | 12 | a0001c0002t0001g0006 a0001c0006t0003g0004 a0001c0006t0003g0007 others(9): Show |
12 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.97+897C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 2/69 | chr1 | 12235260 | |||||||
| chr1:12235660 | C | T | 1 | a0001c0001t0001g0125 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.97+1297C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 2/69 | chr1 | 12235660 | |||||||
| chr1:12235852 | G | A | 12 | a0001c0002t0001g0006 a0001c0006t0003g0004 a0001c0006t0003g0007 others(9): Show |
12 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.97+1489G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 2/69 | chr1 | 12235852 | |||||||
| chr1:12235940 | A | G | 3 | a0001c0002t0004g0047 a0001c0021t0013g0046 a0018c0015t0024g0001 |
3 | HG03098.hp2 HG03540.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.97+1577A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 2/69 | chr1 | 12235940 | |||||||
| chr1:12236175 | C | A | 79 | a0001c0001t0001g0037 a0001c0001t0002g0034 a0001c0001t0002g0038 others(76): Show |
79 | HG00408.hp2 HG00438.hp2 HG01099.hp2 others(76): Show |
intron_variant | MODIFIER | c.97+1812C>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 2/69 | chr1 | 12236175 | |||||||
| chr1:12236369 | T | C | 46 | a0001c0001t0001g0037 a0001c0001t0002g0034 a0001c0001t0002g0038 others(43): Show |
46 | HG00408.hp2 HG00438.hp2 HG01106.hp1 others(43): Show |
intron_variant | MODIFIER | c.97+2006T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 2/69 | chr1 | 12236369 | |||||||
| chr1:12236375 | T | C | 18 | a0001c0001t0004g0148 a0001c0001t0020g0078 a0001c0002t0004g0047 others(15): Show |
18 | HG01109.hp1 HG01884.hp1 HG01891.hp2 others(15): Show |
intron_variant | MODIFIER | c.97+2012T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 2/69 | chr1 | 12236375 | |||||||
| chr1:12236424 | A | G | 3 | a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0021g0122 |
3 | HG02572.hp1 HG03486.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.97+2061A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 2/69 | chr1 | 12236424 | |||||||
| chr1:12236742 | A | G | 1 | a0001c0009t0004g0018 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.97+2379A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 2/69 | chr1 | 12236742 | |||||||
| chr1:12236760 | G | A | 1 | a0001c0001t0021g0122 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.97+2397G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 2/69 | chr1 | 12236760 | |||||||
| chr1:12237095 | G | A | 11 | a0001c0001t0004g0148 a0001c0009t0004g0018 a0001c0009t0008g0017 others(8): Show |
11 | HG01255.hp2 HG01891.hp2 HG02717.hp1 others(8): Show |
intron_variant | MODIFIER | c.97+2732G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 2/69 | chr1 | 12237095 | |||||||
| chr1:12237147 | G | GTA | 26 | a0001c0001t0004g0148 a0001c0002t0001g0006 a0001c0006t0003g0004 others(23): Show |
26 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(23): Show |
intron_variant | MODIFIER | c.97+2792_97+2793dup others(2): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 2/69 | INFO_REALIGN_3_PRIME | chr1 | 12237147 | ||||||
| chr1:12237326 | CA | C | 48 | a0001c0001t0001g0037 a0001c0001t0002g0034 a0001c0001t0002g0038 others(45): Show |
48 | HG01106.hp1 HG01109.hp1 HG01243.hp2 others(45): Show |
intron_variant | MODIFIER | c.97+2980delA | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 2/69 | INFO_REALIGN_3_PRIME | chr1 | 12237326 | ||||||
| chr1:12237326 | CAA | C | 26 | a0001c0001t0004g0148 a0001c0002t0001g0006 a0001c0006t0003g0004 others(23): Show |
26 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(23): Show |
intron_variant | MODIFIER | c.97+2979_97+2980del others(2): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 2/69 | INFO_REALIGN_3_PRIME | chr1 | 12237326 | ||||||
| chr1:12237362 | G | A | 1 | a0001c0009t0022g0076 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.97+2999G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 2/69 | chr1 | 12237362 | |||||||
| chr1:12237556 | C | T | 1 | a0001c0001t0002g0043 | 1 | NA18959.hp2 | intron_variant | MODIFIER | c.97+3193C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 2/69 | chr1 | 12237556 | |||||||
| chr1:12237893 | C | T | 1 | a0001c0006t0003g0009 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.97+3530C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 2/69 | chr1 | 12237893 | |||||||
| chr1:12237974 | G | C | 7 | a0001c0003t0005g0048 a0001c0003t0005g0049 a0001c0003t0005g0050 others(4): Show |
7 | HG01256.hp1 HG01346.hp1 HG02273.hp1 others(4): Show |
intron_variant | MODIFIER | c.97+3611G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 2/69 | chr1 | 12237974 | |||||||
| chr1:12238360 | C | T | 4 | a0001c0001t0010g0120 a0001c0001t0012g0119 a0001c0001t0012g0121 others(1): Show |
4 | HG00408.hp1 HG01256.hp2 HG02004.hp1 others(1): Show |
intron_variant | MODIFIER | c.97+3997C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 2/69 | chr1 | 12238360 | |||||||
| chr1:12238412 | T | C | 2 | a0001c0021t0013g0046 a0018c0015t0024g0001 |
2 | HG03540.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.97+4049T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 2/69 | chr1 | 12238412 | |||||||
| chr1:12238510 | T | C | 10 | a0001c0003t0002g0055 a0001c0003t0002g0056 a0001c0003t0005g0048 others(7): Show |
10 | HG01256.hp1 HG01346.hp1 HG02273.hp1 others(7): Show |
intron_variant | MODIFIER | c.98-4003T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 2/69 | chr1 | 12238510 | |||||||
| chr1:12238511 | T | C | 20 | a0001c0001t0015g0069 a0001c0002t0004g0047 a0001c0002t0015g0057 others(17): Show |
20 | HG01106.hp1 HG01256.hp1 HG01346.hp1 others(17): Show |
intron_variant | MODIFIER | c.98-4002T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 2/69 | chr1 | 12238511 | |||||||
| chr1:12238632 | C | CT | 24 | a0001c0001t0004g0148 a0001c0001t0006g0138 a0001c0002t0001g0006 others(21): Show |
24 | HG01243.hp1 HG01243.hp2 HG01346.hp2 others(21): Show |
intron_variant | MODIFIER | c.98-3864dupT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 2/69 | INFO_REALIGN_3_PRIME | chr1 | 12238632 | ||||||
| chr1:12238706 | C | T | 2 | a0001c0001t0001g0146 a0001c0001t0001g0147 |
2 | HG03017.hp2 HG03491.hp1 |
intron_variant | MODIFIER | c.98-3807C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 2/69 | chr1 | 12238706 | |||||||
| chr1:12238801 | G | A | 22 | a0001c0001t0004g0148 a0001c0002t0001g0006 a0001c0006t0003g0004 others(19): Show |
22 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(19): Show |
intron_variant | MODIFIER | c.98-3712G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 2/69 | chr1 | 12238801 | |||||||
| chr1:12239394 | C | T | 2 | a0001c0001t0001g0145 a0001c0009t0022g0076 |
2 | HG01255.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.98-3119C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 2/69 | chr1 | 12239394 | |||||||
| chr1:12239417 | G | A | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.98-3096G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 2/69 | chr1 | 12239417 | |||||||
| chr1:12239419 | G | A | 1 | a0001c0001t0002g0043 | 1 | NA18959.hp2 | intron_variant | MODIFIER | c.98-3094G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 2/69 | chr1 | 12239419 | |||||||
| chr1:12239786 | T | G | 1 | a0016c0018t0001g0080 | 1 | NA18968.hp1 | intron_variant | MODIFIER | c.98-2727T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 2/69 | chr1 | 12239786 | |||||||
| chr1:12239947 | A | G | 11 | a0001c0001t0001g0145 a0001c0001t0004g0148 a0001c0002t0004g0047 others(8): Show |
11 | HG01255.hp2 HG01891.hp2 HG02717.hp1 others(8): Show |
intron_variant | MODIFIER | c.98-2566A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 2/69 | chr1 | 12239947 | |||||||
| chr1:12240016 | A | G | 1 | a0001c0002t0004g0047 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.98-2497A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 2/69 | chr1 | 12240016 | |||||||
| chr1:12240049 | G | A | 13 | a0001c0002t0001g0006 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.98-2464G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 2/69 | chr1 | 12240049 | |||||||
| chr1:12240136 | A | C | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.98-2377A>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 2/69 | chr1 | 12240136 | |||||||
| chr1:12240147 | C | T | 1 | a0001c0001t0004g0136 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.98-2366C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 2/69 | chr1 | 12240147 | |||||||
| chr1:12240488 | G | A | 1 | a0001c0009t0004g0018 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.98-2025G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 2/69 | chr1 | 12240488 | |||||||
| chr1:12240595 | C | CA | 48 | a0001c0001t0001g0019 a0001c0001t0001g0037 a0001c0001t0001g0084 others(45): Show |
48 | HG00408.hp2 HG00438.hp2 HG01106.hp1 others(45): Show |
intron_variant | MODIFIER | c.98-1895dupA | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 2/69 | INFO_REALIGN_3_PRIME | chr1 | 12240595 | ||||||
| chr1:12240595 | C | CAA | 9 | a0001c0001t0002g0034 a0001c0001t0002g0043 a0001c0001t0002g0064 others(6): Show |
9 | HG02056.hp1 HG02970.hp1 HG03516.hp2 others(6): Show |
intron_variant | MODIFIER | c.98-1896_98-1895dup others(2): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 2/69 | INFO_REALIGN_3_PRIME | chr1 | 12240595 | ||||||
| chr1:12240595 | CAAA | C | 22 | a0001c0001t0004g0148 a0001c0002t0001g0006 a0001c0006t0003g0004 others(19): Show |
22 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(19): Show |
intron_variant | MODIFIER | c.98-1897_98-1895del others(3): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 2/69 | INFO_REALIGN_3_PRIME | chr1 | 12240595 | ||||||
| chr1:12240706 | C | T | 4 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0007c0029t0011g0144 others(1): Show |
4 | HG01891.hp2 HG02717.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.98-1807C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 2/69 | chr1 | 12240706 | |||||||
| chr1:12240867 | A | T | 1 | a0001c0006t0003g0013 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.98-1646A>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 2/69 | chr1 | 12240867 | |||||||
| chr1:12242015 | C | A | 24 | a0001c0001t0004g0148 a0001c0002t0001g0006 a0001c0006t0003g0004 others(21): Show |
24 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(21): Show |
intron_variant | MODIFIER | c.98-498C>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 2/69 | chr1 | 12242015 | |||||||
| chr1:12242086 | G | T | 13 | a0001c0002t0001g0006 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.98-427G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 2/69 | chr1 | 12242086 | |||||||
| chr1:12242164 | A | T | 1 | a0002c0004t0025g0118 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.98-349A>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 2/69 | chr1 | 12242164 | |||||||
| chr1:12242169 | T | G | 2 | a0001c0011t0011g0016 a0001c0011t0018g0015 |
2 | HG02895.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.98-344T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 2/69 | chr1 | 12242169 | |||||||
| chr1:12242283 | G | A | 1 | a0001c0008t0003g0079 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.98-230G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 2/69 | chr1 | 12242283 | |||||||
| chr1:12242330 | G | A | 22 | a0001c0001t0004g0148 a0001c0002t0001g0006 a0001c0006t0003g0004 others(19): Show |
22 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(19): Show |
intron_variant | MODIFIER | c.98-183G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 2/69 | chr1 | 12242330 | |||||||
| chr1:12242644 | G | C | 1 | a0018c0015t0024g0001 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.175+54G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 3/69 | chr1 | 12242644 | |||||||
| chr1:12242958 | C | T | 7 | a0001c0001t0004g0148 a0001c0009t0004g0018 a0001c0009t0008g0017 others(4): Show |
7 | HG01255.hp2 HG02895.hp1 HG03225.hp1 others(4): Show |
intron_variant | MODIFIER | c.175+368C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 3/69 | chr1 | 12242958 | |||||||
| chr1:12243231 | G | A | 136 | a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 others(133): Show |
136 | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(133): Show |
intron_variant | MODIFIER | c.175+641G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 3/69 | chr1 | 12243231 | |||||||
| chr1:12243549 | T | C | 1 | a0001c0009t0008g0017 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.176-697T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 3/69 | chr1 | 12243549 | |||||||
| chr1:12243865 | C | T | 1 | a0018c0015t0024g0001 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.176-381C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 3/69 | chr1 | 12243865 | |||||||
| chr1:12243944 | C | A | 1 | a0018c0015t0024g0001 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.176-302C>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 3/69 | chr1 | 12243944 | |||||||
| chr1:12243952 | A | T | 4 | a0001c0001t0001g0086 a0001c0001t0001g0117 a0001c0001t0001g0134 others(1): Show |
4 | NA18968.hp1 NA19001.hp2 NA19010.hp1 others(1): Show |
intron_variant | MODIFIER | c.176-294A>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 3/69 | chr1 | 12243952 | |||||||
| chr1:12244017 | G | A | 7 | a0001c0003t0005g0048 a0001c0003t0005g0049 a0001c0003t0005g0050 others(4): Show |
7 | HG01256.hp1 HG01346.hp1 HG02273.hp1 others(4): Show |
intron_variant | MODIFIER | c.176-229G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 3/69 | chr1 | 12244017 | |||||||
| chr1:12244024 | C | T | 6 | a0003c0007t0007g0150 a0003c0007t0007g0151 a0003c0007t0007g0152 others(3): Show |
6 | HG01109.hp1 HG01884.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.176-222C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 3/69 | chr1 | 12244024 | |||||||
| chr1:12244042 | T | C | 1 | a0018c0015t0024g0001 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.176-204T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 3/69 | chr1 | 12244042 | |||||||
| chr1:12245229 | G | A | 88 | a0001c0001t0001g0037 a0001c0001t0002g0034 a0001c0001t0002g0038 others(85): Show |
88 | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(85): Show |
intron_variant | MODIFIER | c.447+612G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 5/69 | chr1 | 12245229 | |||||||
| chr1:12245328 | C | T | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.447+711C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 5/69 | chr1 | 12245328 | |||||||
| chr1:12245467 | T | A | 4 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0007c0029t0011g0144 others(1): Show |
4 | HG01891.hp2 HG02717.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.447+850T>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 5/69 | chr1 | 12245467 | |||||||
| chr1:12245588 | G | A | 1 | a0001c0005t0001g0132 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.447+971G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 5/69 | chr1 | 12245588 | |||||||
| chr1:12245636 | A | T | 3 | a0001c0001t0001g0108 a0001c0001t0004g0082 a0001c0001t0011g0107 |
3 | HG02970.hp2 HG02976.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.447+1019A>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 5/69 | chr1 | 12245636 | |||||||
| chr1:12245706 | G | A | 1 | a0001c0001t0006g0137 | 1 | NA18974.hp2 | intron_variant | MODIFIER | c.447+1089G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 5/69 | chr1 | 12245706 | |||||||
| chr1:12245731 | T | TA | 9 | a0001c0001t0004g0148 a0001c0009t0004g0018 a0001c0009t0008g0017 others(6): Show |
9 | HG01255.hp2 HG02895.hp1 HG03225.hp1 others(6): Show |
intron_variant | MODIFIER | c.447+1124dupA | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 5/69 | INFO_REALIGN_3_PRIME | chr1 | 12245731 | ||||||
| chr1:12245739 | A | T | 5 | a0001c0001t0004g0136 a0004c0030t0014g0143 a0004c0031t0014g0142 others(2): Show |
5 | HG01891.hp2 HG02717.hp1 HG02738.hp2 others(2): Show |
intron_variant | MODIFIER | c.447+1122A>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 5/69 | chr1 | 12245739 | |||||||
| chr1:12246138 | G | A | 4 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0007c0029t0011g0144 others(1): Show |
4 | HG01891.hp2 HG02717.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.447+1521G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 5/69 | chr1 | 12246138 | |||||||
| chr1:12246267 | A | G | 1 | a0001c0002t0004g0047 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.447+1650A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 5/69 | chr1 | 12246267 | |||||||
| chr1:12246407 | C | G | 1 | a0002c0004t0025g0118 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.447+1790C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 5/69 | chr1 | 12246407 | |||||||
| chr1:12246463 | C | T | 17 | a0001c0002t0001g0006 a0001c0006t0003g0004 a0001c0006t0003g0007 others(14): Show |
17 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(14): Show |
intron_variant | MODIFIER | c.447+1846C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 5/69 | chr1 | 12246463 | |||||||
| chr1:12246557 | T | C | 26 | a0001c0001t0004g0148 a0001c0002t0001g0006 a0001c0006t0003g0004 others(23): Show |
26 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(23): Show |
intron_variant | MODIFIER | c.447+1940T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 5/69 | chr1 | 12246557 | |||||||
| chr1:12246677 | T | G | 83 | a0001c0001t0001g0037 a0001c0001t0002g0034 a0001c0001t0002g0038 others(80): Show |
83 | HG00408.hp2 HG00438.hp2 HG01099.hp2 others(80): Show |
intron_variant | MODIFIER | c.447+2060T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 5/69 | chr1 | 12246677 | |||||||
| chr1:12246730 | C | G | 2 | a0001c0021t0013g0046 a0018c0015t0024g0001 |
2 | HG03540.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.447+2113C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 5/69 | chr1 | 12246730 | |||||||
| chr1:12246794 | T | C | 2 | a0001c0001t0001g0109 a0001c0001t0001g0110 |
2 | NA18971.hp1 NA19063.hp2 |
intron_variant | MODIFIER | c.447+2177T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 5/69 | chr1 | 12246794 | |||||||
| chr1:12246840 | C | T | 7 | a0001c0001t0004g0148 a0001c0009t0004g0018 a0001c0009t0008g0017 others(4): Show |
7 | HG01255.hp2 HG02895.hp1 HG03225.hp1 others(4): Show |
intron_variant | MODIFIER | c.447+2223C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 5/69 | chr1 | 12246840 | |||||||
| chr1:12246856 | C | G | 1 | a0001c0009t0022g0076 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.447+2239C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 5/69 | chr1 | 12246856 | |||||||
| chr1:12246909 | T | G | 3 | a0001c0002t0007g0066 a0001c0012t0002g0074 a0001c0012t0008g0067 |
3 | HG01243.hp2 HG02622.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.447+2292T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 5/69 | chr1 | 12246909 | |||||||
| chr1:12247016 | TG | T | 6 | a0003c0007t0007g0150 a0003c0007t0007g0151 a0003c0007t0007g0152 others(3): Show |
6 | HG01109.hp1 HG01884.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.448-2203delG | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 5/69 | INFO_REALIGN_3_PRIME | chr1 | 12247016 | ||||||
| chr1:12247191 | G | A | 1 | a0001c0002t0004g0047 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.448-2032G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 5/69 | chr1 | 12247191 | |||||||
| chr1:12247425 | A | G | 3 | a0001c0001t0002g0042 a0001c0002t0002g0040 a0001c0002t0002g0041 |
3 | HG03017.hp1 HG03491.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.448-1798A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 5/69 | chr1 | 12247425 | |||||||
| chr1:12247492 | A | T | 14 | a0001c0001t0001g0124 a0001c0002t0001g0006 a0001c0006t0003g0004 others(11): Show |
14 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(11): Show |
intron_variant | MODIFIER | c.448-1731A>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 5/69 | chr1 | 12247492 | |||||||
| chr1:12247500 | C | A | 1 | a0001c0024t0001g0127 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.448-1723C>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 5/69 | chr1 | 12247500 | |||||||
| chr1:12247521 | A | C | 2 | a0001c0021t0013g0046 a0018c0015t0024g0001 |
2 | HG03540.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.448-1702A>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 5/69 | chr1 | 12247521 | |||||||
| chr1:12247663 | C | CT | 13 | a0001c0002t0001g0006 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.448-1552dupT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 5/69 | INFO_REALIGN_3_PRIME | chr1 | 12247663 | ||||||
| chr1:12247703 | A | AT | 17 | a0001c0001t0001g0106 a0001c0001t0001g0116 a0001c0001t0001g0134 others(14): Show |
17 | HG00408.hp1 HG01255.hp2 HG01256.hp1 others(14): Show |
intron_variant | MODIFIER | c.448-1502dupT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 5/69 | INFO_REALIGN_3_PRIME | chr1 | 12247703 | ||||||
| chr1:12247727 | G | A | 4 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0007c0029t0011g0144 others(1): Show |
4 | HG01891.hp2 HG02717.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.448-1496G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 5/69 | chr1 | 12247727 | |||||||
| chr1:12247750 | C | T | 8 | a0001c0001t0004g0148 a0001c0009t0004g0018 a0001c0009t0008g0017 others(5): Show |
8 | HG01255.hp2 HG02895.hp1 HG03225.hp1 others(5): Show |
intron_variant | MODIFIER | c.448-1473C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 5/69 | chr1 | 12247750 | |||||||
| chr1:12247772 | C | T | 8 | a0001c0001t0004g0148 a0001c0009t0004g0018 a0001c0009t0008g0017 others(5): Show |
8 | HG01255.hp2 HG02895.hp1 HG03225.hp1 others(5): Show |
intron_variant | MODIFIER | c.448-1451C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 5/69 | chr1 | 12247772 | |||||||
| chr1:12247811 | C | T | 22 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(19): Show |
22 | HG00408.hp2 HG00438.hp2 HG02056.hp1 others(19): Show |
intron_variant | MODIFIER | c.448-1412C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 5/69 | chr1 | 12247811 | |||||||
| chr1:12247866 | G | A | 4 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0007c0029t0011g0144 others(1): Show |
4 | HG01891.hp2 HG02717.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.448-1357G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 5/69 | chr1 | 12247866 | |||||||
| chr1:12247896 | T | C | 1 | a0001c0001t0001g0087 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.448-1327T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 5/69 | chr1 | 12247896 | |||||||
| chr1:12247919 | G | T | 1 | a0001c0001t0001g0116 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.448-1304G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 5/69 | chr1 | 12247919 | |||||||
| chr1:12247948 | C | T | 1 | a0013c0027t0001g0105 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.448-1275C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 5/69 | chr1 | 12247948 | |||||||
| chr1:12248249 | A | G | 1 | a0001c0001t0004g0148 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.448-974A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 5/69 | chr1 | 12248249 | |||||||
| chr1:12248325 | G | GTTA | 3 | a0001c0001t0001g0088 a0001c0001t0001g0146 a0001c0001t0001g0147 |
3 | HG03017.hp2 HG03130.hp2 HG03491.hp1 |
intron_variant | MODIFIER | c.448-874_448-872dup others(3): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 5/69 | INFO_REALIGN_3_PRIME | chr1 | 12248325 | ||||||
| chr1:12248325 | GTTATTAT others(2): Show |
G | 13 | a0001c0002t0001g0006 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.448-880_448-872del others(9): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 5/69 | INFO_REALIGN_3_PRIME | chr1 | 12248325 | ||||||
| chr1:12248392 | G | C | 2 | a0001c0021t0013g0046 a0018c0015t0024g0001 |
2 | HG03540.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.448-831G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 5/69 | chr1 | 12248392 | |||||||
| chr1:12248452 | C | T | 1 | a0001c0009t0004g0018 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.448-771C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 5/69 | chr1 | 12248452 | |||||||
| chr1:12248625 | A | G | 1 | a0001c0001t0001g0104 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.448-598A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 5/69 | chr1 | 12248625 | |||||||
| chr1:12248739 | T | C | 1 | a0001c0001t0001g0087 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.448-484T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 5/69 | chr1 | 12248739 | |||||||
| chr1:12248854 | CT | C | 26 | a0001c0001t0004g0148 a0001c0002t0001g0006 a0001c0006t0003g0004 others(23): Show |
26 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(23): Show |
intron_variant | MODIFIER | c.448-361delT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 5/69 | INFO_REALIGN_3_PRIME | chr1 | 12248854 | ||||||
| chr1:12248935 | A | G | 2 | a0001c0021t0013g0046 a0018c0015t0024g0001 |
2 | HG03540.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.448-288A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 5/69 | chr1 | 12248935 | |||||||
| chr1:12249436 | A | G | 1 | a0014c0020t0023g0077 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.564+97A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 6/69 | chr1 | 12249436 | |||||||
| chr1:12249654 | T | C | 4 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0007c0029t0011g0144 others(1): Show |
4 | HG01891.hp2 HG02717.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.564+315T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 6/69 | chr1 | 12249654 | |||||||
| chr1:12249857 | A | T | 7 | a0001c0001t0004g0148 a0001c0009t0004g0018 a0001c0009t0008g0017 others(4): Show |
7 | HG01255.hp2 HG02895.hp1 HG03225.hp1 others(4): Show |
intron_variant | MODIFIER | c.564+518A>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 6/69 | chr1 | 12249857 | |||||||
| chr1:12249867 | A | G | 7 | a0001c0001t0004g0148 a0001c0009t0004g0018 a0001c0009t0008g0017 others(4): Show |
7 | HG01255.hp2 HG02895.hp1 HG03225.hp1 others(4): Show |
intron_variant | MODIFIER | c.564+528A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 6/69 | chr1 | 12249867 | |||||||
| chr1:12250165 | A | G | 17 | a0001c0002t0001g0006 a0001c0006t0003g0004 a0001c0006t0003g0007 others(14): Show |
17 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(14): Show |
intron_variant | MODIFIER | c.564+826A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 6/69 | chr1 | 12250165 | |||||||
| chr1:12250211 | T | A | 7 | a0001c0001t0004g0148 a0001c0009t0004g0018 a0001c0009t0008g0017 others(4): Show |
7 | HG01255.hp2 HG02895.hp1 HG03225.hp1 others(4): Show |
intron_variant | MODIFIER | c.564+872T>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 6/69 | chr1 | 12250211 | |||||||
| chr1:12250243 | AGAGGTCA others(2): Show |
A | 13 | a0001c0002t0001g0006 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.564+908_564+916del others(9): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 6/69 | INFO_REALIGN_3_PRIME | chr1 | 12250243 | ||||||
| chr1:12250284 | A | G | 1 | a0018c0015t0024g0001 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.564+945A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 6/69 | chr1 | 12250284 | |||||||
| chr1:12250394 | A | G | 1 | a0001c0009t0022g0076 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.564+1055A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 6/69 | chr1 | 12250394 | |||||||
| chr1:12250417 | C | G | 1 | a0018c0015t0024g0001 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.564+1078C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 6/69 | chr1 | 12250417 | |||||||
| chr1:12250535 | C | T | 1 | a0013c0027t0001g0105 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.564+1196C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 6/69 | chr1 | 12250535 | |||||||
| chr1:12250565 | C | CAT | 24 | a0001c0001t0004g0148 a0001c0002t0001g0006 a0001c0006t0003g0004 others(21): Show |
24 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(21): Show |
intron_variant | MODIFIER | c.564+1226_564+1227i others(4): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 6/69 | chr1 | 12250565 | |||||||
| chr1:12250612 | A | G | 10 | a0001c0003t0002g0055 a0001c0003t0002g0056 a0001c0003t0005g0048 others(7): Show |
10 | HG01256.hp1 HG01346.hp1 HG02273.hp1 others(7): Show |
intron_variant | MODIFIER | c.564+1273A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 6/69 | chr1 | 12250612 | |||||||
| chr1:12250717 | C | T | 1 | a0001c0009t0008g0017 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.564+1378C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 6/69 | chr1 | 12250717 | |||||||
| chr1:12250850 | AGCCATGC others(78): Show |
A | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.564+1768_564+1852d others(87): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 6/69 | INFO_REALIGN_3_PRIME | chr1 | 12250850 | ||||||
| chr1:12250918 | G | A | 1 | a0018c0015t0024g0001 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.564+1579G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 6/69 | chr1 | 12250918 | |||||||
| chr1:12251244 | C | G | 4 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0007c0029t0011g0144 others(1): Show |
4 | HG01891.hp2 HG02717.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.564+1905C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 6/69 | chr1 | 12251244 | |||||||
| chr1:12251387 | C | T | 2 | a0001c0001t0001g0125 a0001c0001t0004g0139 |
2 | HG02523.hp2 NA18977.hp2 |
intron_variant | MODIFIER | c.564+2048C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 6/69 | chr1 | 12251387 | |||||||
| chr1:12251540 | A | G | 1 | a0015c0016t0026g0149 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.565-2182A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 6/69 | chr1 | 12251540 | |||||||
| chr1:12251868 | C | T | 1 | a0002c0004t0001g0103 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.565-1854C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 6/69 | chr1 | 12251868 | |||||||
| chr1:12251906 | G | C | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.565-1816G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 6/69 | chr1 | 12251906 | |||||||
| chr1:12251989 | G | A | 28 | a0001c0001t0001g0037 a0001c0001t0002g0034 a0001c0001t0002g0038 others(25): Show |
28 | HG00408.hp2 HG00438.hp2 HG02056.hp1 others(25): Show |
intron_variant | MODIFIER | c.565-1733G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 6/69 | chr1 | 12251989 | |||||||
| chr1:12252032 | G | T | 1 | a0001c0001t0004g0082 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.565-1690G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 6/69 | chr1 | 12252032 | |||||||
| chr1:12252041 | G | A | 2 | a0001c0001t0001g0123 a0001c0001t0001g0124 |
2 | HG03486.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.565-1681G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 6/69 | chr1 | 12252041 | |||||||
| chr1:12252198 | G | A | 17 | a0001c0002t0001g0006 a0001c0006t0003g0004 a0001c0006t0003g0007 others(14): Show |
17 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(14): Show |
intron_variant | MODIFIER | c.565-1524G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 6/69 | chr1 | 12252198 | |||||||
| chr1:12252428 | A | G | 17 | a0001c0002t0001g0006 a0001c0006t0003g0004 a0001c0006t0003g0007 others(14): Show |
17 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(14): Show |
intron_variant | MODIFIER | c.565-1294A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 6/69 | chr1 | 12252428 | |||||||
| chr1:12252491 | G | T | 13 | a0001c0002t0001g0006 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.565-1231G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 6/69 | chr1 | 12252491 | |||||||
| chr1:12252537 | C | T | 1 | a0001c0001t0001g0117 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.565-1185C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 6/69 | chr1 | 12252537 | |||||||
| chr1:12252543 | G | A | 1 | a0001c0002t0001g0089 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.565-1179G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 6/69 | chr1 | 12252543 | |||||||
| chr1:12252772 | C | CA | 7 | a0001c0013t0001g0065 a0001c0013t0001g0073 a0002c0004t0001g0133 others(4): Show |
7 | HG01109.hp1 HG01884.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.565-935dupA | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 6/69 | INFO_REALIGN_3_PRIME | chr1 | 12252772 | ||||||
| chr1:12252872 | T | A | 1 | a0001c0001t0001g0134 | 1 | NA19001.hp2 | intron_variant | MODIFIER | c.565-850T>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 6/69 | chr1 | 12252872 | |||||||
| chr1:12252928 | A | G | 24 | a0001c0001t0004g0148 a0001c0002t0001g0006 a0001c0006t0003g0004 others(21): Show |
24 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(21): Show |
intron_variant | MODIFIER | c.565-794A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 6/69 | chr1 | 12252928 | |||||||
| chr1:12253133 | G | A | 1 | a0011c0023t0002g0036 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.565-589G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 6/69 | chr1 | 12253133 | |||||||
| chr1:12253158 | CA | C | 22 | a0001c0002t0001g0006 a0001c0006t0003g0007 a0001c0006t0003g0009 others(19): Show |
22 | HG01109.hp1 HG01243.hp1 HG01346.hp2 others(19): Show |
intron_variant | MODIFIER | c.565-547delA | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 6/69 | INFO_REALIGN_3_PRIME | chr1 | 12253158 | ||||||
| chr1:12253218 | T | G | 24 | a0001c0001t0004g0148 a0001c0002t0001g0006 a0001c0006t0003g0004 others(21): Show |
24 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(21): Show |
intron_variant | MODIFIER | c.565-504T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 6/69 | chr1 | 12253218 | |||||||
| chr1:12253279 | C | T | 26 | a0001c0001t0004g0148 a0001c0002t0001g0006 a0001c0006t0003g0004 others(23): Show |
26 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(23): Show |
intron_variant | MODIFIER | c.565-443C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 6/69 | chr1 | 12253279 | |||||||
| chr1:12253399 | C | T | 1 | a0001c0001t0004g0136 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.565-323C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 6/69 | chr1 | 12253399 | |||||||
| chr1:12253402 | C | T | 1 | a0003c0007t0007g0154 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.565-320C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 6/69 | chr1 | 12253402 | |||||||
| chr1:12253584 | A | G | 13 | a0001c0002t0001g0006 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.565-138A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 6/69 | chr1 | 12253584 | |||||||
| chr1:12254170 | C | T | 1 | a0001c0001t0019g0102 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.669+344C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 7/69 | chr1 | 12254170 | |||||||
| chr1:12254192 | A | T | 7 | a0001c0001t0004g0148 a0001c0009t0004g0018 a0001c0009t0008g0017 others(4): Show |
7 | HG01255.hp2 HG02895.hp1 HG03225.hp1 others(4): Show |
intron_variant | MODIFIER | c.669+366A>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 7/69 | chr1 | 12254192 | |||||||
| chr1:12254241 | C | G | 7 | a0001c0001t0004g0148 a0001c0009t0004g0018 a0001c0009t0008g0017 others(4): Show |
7 | HG01255.hp2 HG02895.hp1 HG03225.hp1 others(4): Show |
intron_variant | MODIFIER | c.669+415C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 7/69 | chr1 | 12254241 | |||||||
| chr1:12254502 | A | C | 3 | a0001c0001t0004g0148 a0001c0009t0004g0018 a0001c0009t0008g0017 |
3 | HG03579.hp1 HG06807.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.669+676A>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 7/69 | chr1 | 12254502 | |||||||
| chr1:12254513 | C | CT | 55 | a0001c0001t0001g0019 a0001c0001t0001g0037 a0001c0001t0001g0085 others(52): Show |
55 | HG00408.hp2 HG00438.hp2 HG01106.hp1 others(52): Show |
intron_variant | MODIFIER | c.669+715dupT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 7/69 | INFO_REALIGN_3_PRIME | chr1 | 12254513 | ||||||
| chr1:12254513 | C | CTT | 5 | a0001c0001t0002g0064 a0001c0001t0021g0122 a0001c0002t0009g0025 others(2): Show |
5 | HG01255.hp2 HG02486.hp2 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.669+714_669+715dup others(2): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 7/69 | INFO_REALIGN_3_PRIME | chr1 | 12254513 | ||||||
| chr1:12254513 | CTTTTTTT others(4): Show |
C | 9 | a0001c0002t0007g0066 a0001c0012t0002g0074 a0001c0012t0008g0067 others(6): Show |
9 | HG01109.hp1 HG01243.hp2 HG01884.hp1 others(6): Show |
intron_variant | MODIFIER | c.669+705_669+715del others(11): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 7/69 | INFO_REALIGN_3_PRIME | chr1 | 12254513 | ||||||
| chr1:12254721 | G | A | 1 | a0003c0007t0007g0150 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.669+895G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 7/69 | chr1 | 12254721 | |||||||
| chr1:12254739 | G | A | 2 | a0001c0002t0002g0040 a0001c0002t0002g0041 |
2 | HG03491.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.669+913G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 7/69 | chr1 | 12254739 | |||||||
| chr1:12254747 | C | T | 1 | a0001c0001t0004g0148 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.669+921C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 7/69 | chr1 | 12254747 | |||||||
| chr1:12254821 | C | A | 48 | a0001c0001t0001g0037 a0001c0001t0002g0034 a0001c0001t0002g0038 others(45): Show |
48 | HG00408.hp2 HG00438.hp2 HG01106.hp1 others(45): Show |
intron_variant | MODIFIER | c.669+995C>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 7/69 | chr1 | 12254821 | |||||||
| chr1:12254839 | T | C | 4 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0007c0029t0011g0144 others(1): Show |
4 | HG01891.hp2 HG02717.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.669+1013T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 7/69 | chr1 | 12254839 | |||||||
| chr1:12254907 | G | A | 1 | a0001c0001t0004g0148 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.669+1081G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 7/69 | chr1 | 12254907 | |||||||
| chr1:12254942 | G | T | 1 | a0001c0001t0015g0069 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.669+1116G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 7/69 | chr1 | 12254942 | |||||||
| chr1:12255038 | C | T | 1 | a0001c0006t0010g0010 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.669+1212C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 7/69 | chr1 | 12255038 | |||||||
| chr1:12255102 | C | T | 11 | a0001c0001t0004g0148 a0001c0009t0004g0018 a0001c0009t0008g0017 others(8): Show |
11 | HG01255.hp2 HG01891.hp2 HG02717.hp1 others(8): Show |
intron_variant | MODIFIER | c.670-1231C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 7/69 | chr1 | 12255102 | |||||||
| chr1:12255614 | T | C | 24 | a0001c0001t0004g0148 a0001c0002t0001g0006 a0001c0006t0003g0004 others(21): Show |
24 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(21): Show |
intron_variant | MODIFIER | c.670-719T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 7/69 | chr1 | 12255614 | |||||||
| chr1:12255756 | G | T | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.670-577G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 7/69 | chr1 | 12255756 | |||||||
| chr1:12255827 | G | A | 1 | a0001c0001t0001g0104 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.670-506G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 7/69 | chr1 | 12255827 | |||||||
| chr1:12255884 | G | A | 3 | a0001c0001t0004g0148 a0001c0009t0004g0018 a0001c0009t0008g0017 |
3 | HG03579.hp1 HG06807.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.670-449G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 7/69 | chr1 | 12255884 | |||||||
| chr1:12256022 | A | G | 5 | a0001c0001t0004g0148 a0001c0009t0004g0018 a0001c0009t0008g0017 others(2): Show |
5 | HG01255.hp2 HG03579.hp1 HG06807.hp1 others(2): Show |
intron_variant | MODIFIER | c.670-311A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 7/69 | chr1 | 12256022 | |||||||
| chr1:12256214 | C | T | 1 | a0018c0015t0024g0001 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.670-119C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 7/69 | chr1 | 12256214 | |||||||
| chr1:12256314 | G | T | 7 | a0001c0001t0004g0148 a0001c0009t0004g0018 a0001c0009t0008g0017 others(4): Show |
7 | HG01255.hp2 HG02895.hp1 HG03225.hp1 others(4): Show |
intron_variant | MODIFIER | c.670-19G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 7/69 | chr1 | 12256314 | |||||||
| chr1:12256527 | A | G | 24 | a0001c0001t0004g0148 a0001c0002t0001g0006 a0001c0006t0003g0004 others(21): Show |
24 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(21): Show |
intron_variant | MODIFIER | c.840+24A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 8/69 | chr1 | 12256527 | |||||||
| chr1:12256690 | G | GT | 12 | a0001c0001t0001g0088 a0001c0001t0002g0140 a0001c0001t0004g0082 others(9): Show |
12 | HG01891.hp2 HG02717.hp1 HG02809.hp2 others(9): Show |
intron_variant | MODIFIER | c.840+207dupT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 8/69 | INFO_REALIGN_3_PRIME | chr1 | 12256690 | ||||||
| chr1:12256690 | G | GTT | 5 | a0001c0001t0004g0148 a0001c0009t0004g0018 a0001c0009t0022g0076 others(2): Show |
5 | HG01255.hp2 HG02895.hp1 HG03225.hp1 others(2): Show |
intron_variant | MODIFIER | c.840+206_840+207dup others(2): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 8/69 | INFO_REALIGN_3_PRIME | chr1 | 12256690 | ||||||
| chr1:12256794 | G | A | 2 | a0001c0009t0022g0076 a0014c0020t0023g0077 |
2 | HG01255.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.841-193G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 8/69 | chr1 | 12256794 | |||||||
| chr1:12257235 | T | C | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.941+148T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 9/69 | chr1 | 12257235 | |||||||
| chr1:12257778 | T | TG | 88 | a0001c0001t0001g0037 a0001c0001t0002g0034 a0001c0001t0002g0038 others(85): Show |
88 | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(85): Show |
intron_variant | MODIFIER | c.942-155dupG | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 9/69 | INFO_REALIGN_3_PRIME | chr1 | 12257778 | ||||||
| chr1:12257812 | T | C | 1 | a0001c0003t0001g0058 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.942-123T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 9/69 | chr1 | 12257812 | |||||||
| chr1:12258331 | G | A | 1 | a0013c0027t0001g0105 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.1110+228G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 10/69 | chr1 | 12258331 | |||||||
| chr1:12258870 | A | G | 1 | a0018c0015t0024g0001 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.1110+767A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 10/69 | chr1 | 12258870 | |||||||
| chr1:12259042 | C | CT | 5 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0007c0029t0011g0144 others(2): Show |
5 | HG01891.hp2 HG02717.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.1110+941dupT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 10/69 | INFO_REALIGN_3_PRIME | chr1 | 12259042 | ||||||
| chr1:12259045 | C | T | 23 | a0001c0001t0004g0148 a0001c0002t0001g0006 a0001c0006t0003g0004 others(20): Show |
23 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(20): Show |
intron_variant | MODIFIER | c.1110+942C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 10/69 | chr1 | 12259045 | |||||||
| chr1:12259048 | T | C | 1 | a0001c0003t0005g0048 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.1110+945T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 10/69 | chr1 | 12259048 | |||||||
| chr1:12259119 | C | A | 5 | a0001c0001t0004g0148 a0001c0009t0004g0018 a0001c0009t0008g0017 others(2): Show |
5 | HG01255.hp2 HG03579.hp1 HG06807.hp1 others(2): Show |
intron_variant | MODIFIER | c.1110+1016C>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 10/69 | chr1 | 12259119 | |||||||
| chr1:12259134 | T | C | 25 | a0001c0001t0004g0148 a0001c0002t0001g0006 a0001c0002t0004g0047 others(22): Show |
25 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(22): Show |
intron_variant | MODIFIER | c.1110+1031T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 10/69 | chr1 | 12259134 | |||||||
| chr1:12259187 | C | T | 2 | a0001c0002t0001g0099 a0001c0002t0001g0100 |
2 | HG01255.hp1 NA20905.hp2 |
intron_variant | MODIFIER | c.1110+1084C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 10/69 | chr1 | 12259187 | |||||||
| chr1:12259188 | C | T | 5 | a0001c0001t0004g0148 a0001c0009t0004g0018 a0001c0009t0008g0017 others(2): Show |
5 | HG01255.hp2 HG03579.hp1 HG06807.hp1 others(2): Show |
intron_variant | MODIFIER | c.1110+1085C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 10/69 | chr1 | 12259188 | |||||||
| chr1:12259303 | C | G | 3 | a0001c0001t0004g0148 a0001c0009t0004g0018 a0001c0009t0008g0017 |
3 | HG03579.hp1 HG06807.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.1110+1200C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 10/69 | chr1 | 12259303 | |||||||
| chr1:12259313 | C | CT | 19 | a0001c0001t0001g0037 a0001c0002t0001g0006 a0001c0003t0005g0052 others(16): Show |
19 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(16): Show |
intron_variant | MODIFIER | c.1110+1215dupT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 10/69 | INFO_REALIGN_3_PRIME | chr1 | 12259313 | ||||||
| chr1:12259319 | A | T | 84 | a0001c0001t0001g0037 a0001c0001t0002g0034 a0001c0001t0002g0038 others(81): Show |
84 | HG00408.hp2 HG00438.hp2 HG01099.hp2 others(81): Show |
intron_variant | MODIFIER | c.1110+1216A>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 10/69 | chr1 | 12259319 | |||||||
| chr1:12259452 | C | T | 1 | a0001c0008t0003g0002 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.1111-1241C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 10/69 | chr1 | 12259452 | |||||||
| chr1:12259542 | A | G | 10 | a0001c0011t0011g0016 a0001c0011t0018g0015 a0001c0013t0001g0065 others(7): Show |
10 | HG01109.hp1 HG01884.hp1 HG02622.hp1 others(7): Show |
intron_variant | MODIFIER | c.1111-1151A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 10/69 | chr1 | 12259542 | |||||||
| chr1:12259675 | G | A | 3 | a0001c0001t0016g0032 a0005c0010t0008g0070 a0005c0010t0008g0071 |
3 | HG02809.hp2 HG02970.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.1111-1018G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 10/69 | chr1 | 12259675 | |||||||
| chr1:12259937 | G | T | 83 | a0001c0001t0001g0037 a0001c0001t0002g0034 a0001c0001t0002g0038 others(80): Show |
83 | HG00408.hp2 HG00438.hp2 HG01099.hp2 others(80): Show |
intron_variant | MODIFIER | c.1111-756G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 10/69 | chr1 | 12259937 | |||||||
| chr1:12259977 | A | C | 3 | a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0002t0001g0089 |
3 | HG03017.hp2 HG03491.hp1 HG04115.hp2 |
intron_variant | MODIFIER | c.1111-716A>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 10/69 | chr1 | 12259977 | |||||||
| chr1:12260015 | C | CTT | 13 | a0001c0002t0001g0006 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.1111-651_1111-650d others(4): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 10/69 | INFO_REALIGN_3_PRIME | chr1 | 12260015 | ||||||
| chr1:12260015 | C | CTTT | 5 | a0001c0006t0003g0009 a0001c0008t0003g0008 a0001c0008t0003g0012 others(2): Show |
5 | HG01361.hp1 HG01928.hp1 HG04115.hp1 others(2): Show |
intron_variant | MODIFIER | c.1111-652_1111-650d others(5): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 10/69 | INFO_REALIGN_3_PRIME | chr1 | 12260015 | ||||||
| chr1:12260015 | CT | C | 51 | a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0084 others(48): Show |
51 | HG00438.hp1 HG01071.hp1 HG01071.hp2 others(48): Show |
intron_variant | MODIFIER | c.1111-650delT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 10/69 | INFO_REALIGN_3_PRIME | chr1 | 12260015 | ||||||
| chr1:12260015 | CTTTTTTT others(6): Show |
C | 56 | a0001c0001t0001g0037 a0001c0001t0002g0034 a0001c0001t0002g0038 others(53): Show |
56 | HG00408.hp2 HG00438.hp2 HG01109.hp1 others(53): Show |
intron_variant | MODIFIER | c.1111-662_1111-650d others(15): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 10/69 | INFO_REALIGN_3_PRIME | chr1 | 12260015 | ||||||
| chr1:12260015 | CTTTTTTT others(7): Show |
C | 4 | a0001c0001t0002g0042 a0001c0001t0015g0069 a0001c0002t0004g0047 others(1): Show |
4 | HG01106.hp1 HG03017.hp1 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.1111-663_1111-650d others(16): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 10/69 | INFO_REALIGN_3_PRIME | chr1 | 12260015 | ||||||
| chr1:12260087 | G | A | 13 | a0001c0002t0001g0006 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.1111-606G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 10/69 | chr1 | 12260087 | |||||||
| chr1:12260216 | G | A | 10 | a0001c0001t0004g0148 a0001c0009t0004g0018 a0001c0009t0008g0017 others(7): Show |
10 | HG01255.hp2 HG01891.hp2 HG02717.hp1 others(7): Show |
intron_variant | MODIFIER | c.1111-477G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 10/69 | chr1 | 12260216 | |||||||
| chr1:12260533 | A | T | 1 | a0015c0016t0026g0149 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1111-160A>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 10/69 | chr1 | 12260533 | |||||||
| chr1:12260892 | T | G | 10 | a0001c0001t0004g0148 a0001c0009t0004g0018 a0001c0009t0008g0017 others(7): Show |
10 | HG01255.hp2 HG01891.hp2 HG02717.hp1 others(7): Show |
intron_variant | MODIFIER | c.1213-56T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 11/69 | chr1 | 12260892 | |||||||
| chr1:12261190 | G | T | 3 | a0001c0001t0001g0106 a0001c0002t0001g0099 a0001c0002t0001g0100 |
3 | HG01255.hp1 HG02300.hp2 NA20905.hp2 |
intron_variant | MODIFIER | c.1414+41G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 12/69 | chr1 | 12261190 | |||||||
| chr1:12261511 | A | G | 2 | a0001c0001t0001g0146 a0001c0001t0001g0147 |
2 | HG03017.hp2 HG03491.hp1 |
intron_variant | MODIFIER | c.1414+362A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 12/69 | chr1 | 12261511 | |||||||
| chr1:12261561 | C | T | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.1415-340C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 12/69 | chr1 | 12261561 | |||||||
| chr1:12262183 | C | A | 2 | a0001c0001t0001g0108 a0001c0001t0011g0107 |
2 | HG02976.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.1594+103C>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 13/69 | chr1 | 12262183 | |||||||
| chr1:12262576 | T | C | 1 | a0009c0022t0002g0033 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.1594+496T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 13/69 | chr1 | 12262576 | |||||||
| chr1:12262707 | C | CT | 5 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0007c0029t0011g0144 others(2): Show |
5 | HG01891.hp2 HG02717.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.1594+641dupT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 13/69 | INFO_REALIGN_3_PRIME | chr1 | 12262707 | ||||||
| chr1:12262711 | T | C | 1 | a0001c0001t0001g0023 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.1594+631T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 13/69 | chr1 | 12262711 | |||||||
| chr1:12262806 | C | T | 13 | a0001c0002t0001g0006 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.1594+726C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 13/69 | chr1 | 12262806 | |||||||
| chr1:12263144 | C | T | 12 | a0001c0001t0004g0148 a0001c0009t0004g0018 a0001c0009t0008g0017 others(9): Show |
12 | HG01255.hp2 HG01891.hp2 HG02717.hp1 others(9): Show |
intron_variant | MODIFIER | c.1594+1064C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 13/69 | chr1 | 12263144 | |||||||
| chr1:12263200 | C | T | 24 | a0001c0001t0001g0037 a0001c0001t0002g0034 a0001c0001t0002g0038 others(21): Show |
24 | HG00408.hp2 HG00438.hp2 HG02056.hp1 others(21): Show |
intron_variant | MODIFIER | c.1594+1120C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 13/69 | chr1 | 12263200 | |||||||
| chr1:12263550 | G | A | 2 | a0001c0001t0002g0043 a0001c0001t0002g0072 |
2 | HG02083.hp2 NA18959.hp2 |
intron_variant | MODIFIER | c.1594+1470G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 13/69 | chr1 | 12263550 | |||||||
| chr1:12263797 | A | G | 7 | a0001c0001t0004g0148 a0001c0009t0004g0018 a0001c0009t0008g0017 others(4): Show |
7 | HG01255.hp2 HG02895.hp1 HG03225.hp1 others(4): Show |
intron_variant | MODIFIER | c.1594+1717A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 13/69 | chr1 | 12263797 | |||||||
| chr1:12263822 | T | G | 1 | a0001c0001t0001g0086 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.1594+1742T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 13/69 | chr1 | 12263822 | |||||||
| chr1:12264179 | C | T | 1 | a0001c0003t0005g0051 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.1594+2099C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 13/69 | chr1 | 12264179 | |||||||
| chr1:12264361 | G | A | 1 | a0002c0004t0001g0090 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.1594+2281G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 13/69 | chr1 | 12264361 | |||||||
| chr1:12264518 | A | G | 1 | a0001c0001t0002g0140 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.1595-2363A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 13/69 | chr1 | 12264518 | |||||||
| chr1:12264678 | C | T | 1 | a0001c0003t0001g0058 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1595-2203C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 13/69 | chr1 | 12264678 | |||||||
| chr1:12264715 | A | G | 25 | a0001c0001t0004g0148 a0001c0002t0001g0006 a0001c0006t0003g0004 others(22): Show |
25 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(22): Show |
intron_variant | MODIFIER | c.1595-2166A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 13/69 | chr1 | 12264715 | |||||||
| chr1:12265089 | A | G | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.1595-1792A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 13/69 | chr1 | 12265089 | |||||||
| chr1:12265147 | T | C | 17 | a0001c0003t0001g0058 a0001c0003t0002g0055 a0001c0003t0002g0056 others(14): Show |
17 | HG01256.hp1 HG01346.hp1 HG01884.hp2 others(14): Show |
intron_variant | MODIFIER | c.1595-1734T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 13/69 | chr1 | 12265147 | |||||||
| chr1:12265176 | C | T | 2 | a0001c0001t0015g0069 a0001c0002t0015g0057 |
2 | HG01106.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.1595-1705C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 13/69 | chr1 | 12265176 | |||||||
| chr1:12265958 | C | T | 1 | a0001c0005t0001g0132 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.1595-923C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 13/69 | chr1 | 12265958 | |||||||
| chr1:12266286 | G | A | 1 | a0001c0002t0001g0089 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1595-595G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 13/69 | chr1 | 12266286 | |||||||
| chr1:12266312 | A | G | 1 | a0001c0001t0002g0140 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.1595-569A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 13/69 | chr1 | 12266312 | |||||||
| chr1:12266475 | C | G | 13 | a0001c0002t0001g0006 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.1595-406C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 13/69 | chr1 | 12266475 | |||||||
| chr1:12266709 | A | G | 4 | a0001c0001t0001g0086 a0001c0001t0001g0117 a0001c0001t0001g0134 others(1): Show |
4 | NA18968.hp1 NA19001.hp2 NA19010.hp1 others(1): Show |
intron_variant | MODIFIER | c.1595-172A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 13/69 | chr1 | 12266709 | |||||||
| chr1:12266805 | T | A | 5 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0007c0029t0011g0144 others(2): Show |
5 | HG01891.hp2 HG02717.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.1595-76T>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 13/69 | chr1 | 12266805 | |||||||
| chr1:12267027 | G | A | 1 | a0002c0004t0001g0103 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1725+16G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 14/69 | chr1 | 12267027 | |||||||
| chr1:12267160 | G | A | 5 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0007c0029t0011g0144 others(2): Show |
5 | HG01891.hp2 HG02717.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.1725+149G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 14/69 | chr1 | 12267160 | |||||||
| chr1:12267182 | G | T | 3 | a0001c0002t0007g0066 a0001c0012t0002g0074 a0001c0012t0008g0067 |
3 | HG01243.hp2 HG02622.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.1725+171G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 14/69 | chr1 | 12267182 | |||||||
| chr1:12267219 | G | C | 25 | a0001c0001t0004g0148 a0001c0002t0001g0006 a0001c0006t0003g0004 others(22): Show |
25 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(22): Show |
intron_variant | MODIFIER | c.1725+208G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 14/69 | chr1 | 12267219 | |||||||
| chr1:12267224 | A | G | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.1725+213A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 14/69 | chr1 | 12267224 | |||||||
| chr1:12267307 | G | A | 1 | a0001c0009t0004g0018 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.1725+296G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 14/69 | chr1 | 12267307 | |||||||
| chr1:12267724 | A | C | 2 | a0001c0011t0011g0016 a0001c0011t0018g0015 |
2 | HG02895.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1726-121A>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 14/69 | chr1 | 12267724 | |||||||
| chr1:12267945 | T | A | 13 | a0001c0002t0001g0006 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.1801+25T>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 15/69 | chr1 | 12267945 | |||||||
| chr1:12267993 | G | A | 1 | a0001c0001t0001g0091 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.1801+73G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 15/69 | chr1 | 12267993 | |||||||
| chr1:12268249 | C | CT | 32 | a0001c0001t0004g0148 a0001c0001t0015g0069 a0001c0002t0002g0035 others(29): Show |
32 | HG01106.hp1 HG01255.hp2 HG01256.hp1 others(29): Show |
intron_variant | MODIFIER | c.1801+350dupT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 15/69 | INFO_REALIGN_3_PRIME | chr1 | 12268249 | ||||||
| chr1:12268293 | G | C | 28 | a0001c0001t0001g0037 a0001c0001t0002g0034 a0001c0001t0002g0038 others(25): Show |
28 | HG00408.hp2 HG00438.hp2 HG02056.hp1 others(25): Show |
intron_variant | MODIFIER | c.1801+373G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 15/69 | chr1 | 12268293 | |||||||
| chr1:12268305 | A | G | 25 | a0001c0001t0004g0148 a0001c0002t0001g0006 a0001c0006t0003g0004 others(22): Show |
25 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(22): Show |
intron_variant | MODIFIER | c.1801+385A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 15/69 | chr1 | 12268305 | |||||||
| chr1:12268347 | G | T | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.1802-359G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 15/69 | chr1 | 12268347 | |||||||
| chr1:12268349 | A | G | 4 | a0003c0007t0007g0150 a0003c0007t0007g0151 a0003c0007t0007g0152 others(1): Show |
4 | HG01109.hp1 HG01884.hp1 HG02622.hp1 others(1): Show |
intron_variant | MODIFIER | c.1802-357A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 15/69 | chr1 | 12268349 | |||||||
| chr1:12268670 | C | T | 6 | a0003c0007t0007g0150 a0003c0007t0007g0151 a0003c0007t0007g0152 others(3): Show |
6 | HG01109.hp1 HG01884.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.1802-36C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 15/69 | chr1 | 12268670 | |||||||
| chr1:12269004 | A | G | 1 | a0001c0001t0001g0088 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.1972+128A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 16/69 | chr1 | 12269004 | |||||||
| chr1:12269238 | C | T | 11 | a0002c0004t0001g0081 a0002c0004t0001g0090 a0002c0004t0001g0094 others(8): Show |
11 | HG01071.hp1 HG01099.hp1 HG02056.hp2 others(8): Show |
intron_variant | MODIFIER | c.1972+362C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 16/69 | chr1 | 12269238 | |||||||
| chr1:12269454 | A | G | 23 | a0001c0001t0004g0148 a0001c0002t0001g0006 a0001c0006t0003g0004 others(20): Show |
23 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(20): Show |
intron_variant | MODIFIER | c.1972+578A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 16/69 | chr1 | 12269454 | |||||||
| chr1:12269724 | T | C | 13 | a0001c0002t0001g0006 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.1972+848T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 16/69 | chr1 | 12269724 | |||||||
| chr1:12270366 | G | A | 1 | a0001c0001t0010g0120 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.1973-628G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 16/69 | chr1 | 12270366 | |||||||
| chr1:12270382 | C | T | 1 | a0001c0009t0004g0018 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.1973-612C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 16/69 | chr1 | 12270382 | |||||||
| chr1:12270454 | AAAG | A | 28 | a0001c0001t0001g0037 a0001c0001t0002g0034 a0001c0001t0002g0038 others(25): Show |
28 | HG00408.hp2 HG00438.hp2 HG02056.hp1 others(25): Show |
intron_variant | MODIFIER | c.1973-529_1973-527d others(5): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 16/69 | INFO_REALIGN_3_PRIME | chr1 | 12270454 | ||||||
| chr1:12270620 | T | TC | 7 | a0001c0001t0004g0148 a0001c0009t0004g0018 a0001c0009t0008g0017 others(4): Show |
7 | HG01255.hp2 HG02895.hp1 HG03225.hp1 others(4): Show |
intron_variant | MODIFIER | c.1973-368dupC | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 16/69 | INFO_REALIGN_3_PRIME | chr1 | 12270620 | ||||||
| chr1:12270822 | C | T | 1 | a0001c0001t0002g0038 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.1973-172C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 16/69 | chr1 | 12270822 | |||||||
| chr1:12271558 | G | A | 88 | a0001c0001t0001g0037 a0001c0001t0002g0034 a0001c0001t0002g0038 others(85): Show |
88 | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(85): Show |
intron_variant | MODIFIER | c.2103+434G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 17/69 | chr1 | 12271558 | |||||||
| chr1:12271579 | G | T | 1 | a0001c0003t0005g0053 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.2103+455G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 17/69 | chr1 | 12271579 | |||||||
| chr1:12271896 | C | T | 4 | a0003c0007t0007g0150 a0003c0007t0007g0151 a0003c0007t0007g0152 others(1): Show |
4 | HG01109.hp1 HG01884.hp1 HG02622.hp1 others(1): Show |
intron_variant | MODIFIER | c.2103+772C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 17/69 | chr1 | 12271896 | |||||||
| chr1:12271906 | G | C | 3 | a0001c0002t0007g0066 a0001c0012t0002g0074 a0001c0012t0008g0067 |
3 | HG01243.hp2 HG02622.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.2103+782G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 17/69 | chr1 | 12271906 | |||||||
| chr1:12271954 | A | G | 25 | a0001c0001t0004g0148 a0001c0002t0001g0006 a0001c0006t0003g0004 others(22): Show |
25 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(22): Show |
intron_variant | MODIFIER | c.2103+830A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 17/69 | chr1 | 12271954 | |||||||
| chr1:12272013 | G | A | 13 | a0001c0002t0001g0006 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.2103+889G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 17/69 | chr1 | 12272013 | |||||||
| chr1:12272392 | G | GGT | 37 | a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 others(34): Show |
37 | HG01071.hp2 HG01099.hp2 HG01106.hp1 others(34): Show |
intron_variant | MODIFIER | c.2104-574_2104-573d others(4): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 17/69 | INFO_REALIGN_3_PRIME | chr1 | 12272392 | ||||||
| chr1:12272392 | G | GGTGT | 4 | a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0008t0003g0079 others(1): Show |
4 | HG02735.hp2 HG03486.hp2 HG04115.hp1 others(1): Show |
intron_variant | MODIFIER | c.2104-576_2104-573d others(6): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 17/69 | INFO_REALIGN_3_PRIME | chr1 | 12272392 | ||||||
| chr1:12272392 | G | GGTGTGTG others(9): Show |
1 | a0001c0002t0004g0047 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.2104-588_2104-573d others(18): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 17/69 | INFO_REALIGN_3_PRIME | chr1 | 12272392 | ||||||
| chr1:12272392 | GGT | G | 40 | a0001c0001t0001g0019 a0001c0001t0002g0140 a0001c0001t0004g0126 others(37): Show |
40 | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(37): Show |
intron_variant | MODIFIER | c.2104-574_2104-573d others(4): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 17/69 | INFO_REALIGN_3_PRIME | chr1 | 12272392 | ||||||
| chr1:12272392 | GGTGT | G | 21 | a0001c0001t0001g0037 a0001c0001t0002g0034 a0001c0001t0002g0038 others(18): Show |
21 | HG00438.hp2 HG02056.hp1 HG02071.hp2 others(18): Show |
intron_variant | MODIFIER | c.2104-576_2104-573d others(6): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 17/69 | INFO_REALIGN_3_PRIME | chr1 | 12272392 | ||||||
| chr1:12272392 | GGTGTGTG others(5): Show |
G | 1 | a0001c0003t0016g0063 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.2104-584_2104-573d others(14): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 17/69 | INFO_REALIGN_3_PRIME | chr1 | 12272392 | ||||||
| chr1:12272394 | T | G | 2 | a0001c0003t0002g0055 a0001c0003t0002g0056 |
2 | NA18951.hp1 NA19070.hp2 |
intron_variant | MODIFIER | c.2104-609T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 17/69 | chr1 | 12272394 | |||||||
| chr1:12272430 | T | TG | 2 | a0002c0004t0001g0133 a0010c0017t0001g0083 |
2 | HG02071.hp1 NA19000.hp1 |
intron_variant | MODIFIER | c.2104-573_2104-572i others(3): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 17/69 | chr1 | 12272430 | |||||||
| chr1:12272449 | AATTAGT | A | 5 | a0001c0001t0006g0130 a0001c0001t0010g0120 a0001c0001t0012g0119 others(2): Show |
5 | HG00408.hp1 HG01256.hp2 HG02004.hp1 others(2): Show |
intron_variant | MODIFIER | c.2104-550_2104-545d others(8): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 17/69 | INFO_REALIGN_3_PRIME | chr1 | 12272449 | ||||||
| chr1:12272899 | A | G | 1 | a0001c0002t0001g0006 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.2104-104A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 17/69 | chr1 | 12272899 | |||||||
| chr1:12272946 | A | G | 5 | a0001c0001t0004g0148 a0001c0009t0004g0018 a0001c0009t0008g0017 others(2): Show |
5 | HG02895.hp1 HG03225.hp1 HG03579.hp1 others(2): Show |
intron_variant | MODIFIER | c.2104-57A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 17/69 | chr1 | 12272946 | |||||||
| chr1:12273330 | T | C | 5 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0007c0029t0011g0144 others(2): Show |
5 | HG01891.hp2 HG02717.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.2236+195T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 18/69 | chr1 | 12273330 | |||||||
| chr1:12274366 | G | A | 2 | a0001c0001t0015g0069 a0001c0002t0015g0057 |
2 | HG01106.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.2236+1231G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 18/69 | chr1 | 12274366 | |||||||
| chr1:12274508 | C | T | 1 | a0001c0006t0003g0007 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.2237-1317C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 18/69 | chr1 | 12274508 | |||||||
| chr1:12274547 | A | G | 7 | a0001c0001t0004g0148 a0001c0009t0004g0018 a0001c0009t0008g0017 others(4): Show |
7 | HG01255.hp2 HG02895.hp1 HG03225.hp1 others(4): Show |
intron_variant | MODIFIER | c.2237-1278A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 18/69 | chr1 | 12274547 | |||||||
| chr1:12274794 | A | G | 3 | a0001c0002t0007g0066 a0001c0012t0002g0074 a0001c0012t0008g0067 |
3 | HG01243.hp2 HG02622.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.2237-1031A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 18/69 | chr1 | 12274794 | |||||||
| chr1:12274936 | T | G | 2 | a0001c0001t0001g0146 a0001c0001t0001g0147 |
2 | HG03017.hp2 HG03491.hp1 |
intron_variant | MODIFIER | c.2237-889T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 18/69 | chr1 | 12274936 | |||||||
| chr1:12274941 | A | G | 22 | a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 others(19): Show |
22 | HG01071.hp1 HG01099.hp1 HG01255.hp1 others(19): Show |
intron_variant | MODIFIER | c.2237-884A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 18/69 | chr1 | 12274941 | |||||||
| chr1:12275036 | T | A | 2 | a0001c0002t0004g0047 a0001c0021t0013g0046 |
2 | HG03098.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.2237-789T>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 18/69 | chr1 | 12275036 | |||||||
| chr1:12275178 | C | T | 1 | a0001c0001t0004g0148 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.2237-647C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 18/69 | chr1 | 12275178 | |||||||
| chr1:12275284 | A | G | 135 | a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 others(132): Show |
135 | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(132): Show |
intron_variant | MODIFIER | c.2237-541A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 18/69 | chr1 | 12275284 | |||||||
| chr1:12275329 | C | T | 2 | a0001c0001t0001g0037 a0011c0023t0002g0036 |
2 | HG02965.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.2237-496C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 18/69 | chr1 | 12275329 | |||||||
| chr1:12275369 | C | G | 1 | a0014c0020t0023g0077 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.2237-456C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 18/69 | chr1 | 12275369 | |||||||
| chr1:12275509 | T | C | 1 | a0013c0027t0001g0105 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.2237-316T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 18/69 | chr1 | 12275509 | |||||||
| chr1:12275538 | G | C | 1 | a0014c0020t0023g0077 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.2237-287G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 18/69 | chr1 | 12275538 | |||||||
| chr1:12278236 | A | G | 1 | a0003c0007t0007g0154 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.4450+198A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 19/69 | chr1 | 12278236 | |||||||
| chr1:12278419 | C | T | 1 | a0001c0003t0005g0053 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.4450+381C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 19/69 | chr1 | 12278419 | |||||||
| chr1:12278432 | G | A | 2 | a0001c0001t0001g0112 a0001c0001t0001g0113 |
2 | HG01943.hp2 HG02273.hp2 |
intron_variant | MODIFIER | c.4450+394G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 19/69 | chr1 | 12278432 | |||||||
| chr1:12278669 | T | G | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.4450+631T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 19/69 | chr1 | 12278669 | |||||||
| chr1:12278683 | A | G | 2 | a0001c0009t0022g0076 a0014c0020t0023g0077 |
2 | HG01255.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.4450+645A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 19/69 | chr1 | 12278683 | |||||||
| chr1:12278908 | G | A | 5 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0007c0029t0011g0144 others(2): Show |
5 | HG01891.hp2 HG02717.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.4451-591G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 19/69 | chr1 | 12278908 | |||||||
| chr1:12279358 | T | C | 1 | a0002c0004t0001g0133 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.4451-141T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 19/69 | chr1 | 12279358 | |||||||
| chr1:12280031 | G | T | 2 | a0001c0001t0002g0043 a0001c0001t0002g0072 |
2 | HG02083.hp2 NA18959.hp2 |
intron_variant | MODIFIER | c.4602+381G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 20/69 | chr1 | 12280031 | |||||||
| chr1:12280032 | G | T | 2 | a0001c0001t0002g0043 a0001c0001t0002g0072 |
2 | HG02083.hp2 NA18959.hp2 |
intron_variant | MODIFIER | c.4602+382G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 20/69 | chr1 | 12280032 | |||||||
| chr1:12280047 | CAG | C | 24 | a0001c0001t0001g0037 a0001c0001t0002g0034 a0001c0001t0002g0038 others(21): Show |
24 | HG00408.hp2 HG00438.hp2 HG02056.hp1 others(21): Show |
intron_variant | MODIFIER | c.4602+401_4602+402d others(4): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 20/69 | INFO_REALIGN_3_PRIME | chr1 | 12280047 | ||||||
| chr1:12280290 | C | G | 1 | a0001c0009t0022g0076 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.4602+640C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 20/69 | chr1 | 12280290 | |||||||
| chr1:12280500 | C | CT | 17 | a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0002t0002g0024 others(14): Show |
17 | HG00408.hp1 HG01099.hp2 HG01243.hp1 others(14): Show |
intron_variant | MODIFIER | c.4602+868dupT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 20/69 | INFO_REALIGN_3_PRIME | chr1 | 12280500 | ||||||
| chr1:12280531 | C | G | 1 | a0003c0007t0007g0154 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.4602+881C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 20/69 | chr1 | 12280531 | |||||||
| chr1:12280538 | C | G | 22 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(19): Show |
22 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(19): Show |
intron_variant | MODIFIER | c.4602+888C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 20/69 | chr1 | 12280538 | |||||||
| chr1:12280786 | G | A | 1 | a0001c0014t0012g0075 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.4602+1136G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 20/69 | chr1 | 12280786 | |||||||
| chr1:12280933 | ATAATT | A | 4 | a0001c0009t0004g0018 a0001c0009t0008g0017 a0001c0009t0022g0076 others(1): Show |
4 | HG01255.hp2 HG03579.hp1 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.4602+1290_4602+129 others(9): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 20/69 | INFO_REALIGN_3_PRIME | chr1 | 12280933 | ||||||
| chr1:12280991 | A | G | 11 | a0002c0004t0001g0081 a0002c0004t0001g0090 a0002c0004t0001g0094 others(8): Show |
11 | HG01071.hp1 HG01099.hp1 HG02056.hp2 others(8): Show |
intron_variant | MODIFIER | c.4602+1341A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 20/69 | chr1 | 12280991 | |||||||
| chr1:12281180 | G | C | 1 | a0001c0001t0011g0107 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.4603-1525G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 20/69 | chr1 | 12281180 | |||||||
| chr1:12281232 | C | T | 9 | a0001c0002t0007g0066 a0001c0012t0002g0074 a0001c0012t0008g0067 others(6): Show |
9 | HG01109.hp1 HG01243.hp2 HG01884.hp1 others(6): Show |
intron_variant | MODIFIER | c.4603-1473C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 20/69 | chr1 | 12281232 | |||||||
| chr1:12281342 | G | A | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.4603-1363G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 20/69 | chr1 | 12281342 | |||||||
| chr1:12281471 | T | C | 22 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(19): Show |
22 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(19): Show |
intron_variant | MODIFIER | c.4603-1234T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 20/69 | chr1 | 12281471 | |||||||
| chr1:12281522 | T | C | 1 | a0008c0026t0006g0128 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.4603-1183T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 20/69 | chr1 | 12281522 | |||||||
| chr1:12281650 | T | C | 5 | a0001c0009t0004g0018 a0001c0009t0008g0017 a0001c0009t0022g0076 others(2): Show |
5 | HG01255.hp2 HG03540.hp2 HG03579.hp1 others(2): Show |
intron_variant | MODIFIER | c.4603-1055T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 20/69 | chr1 | 12281650 | |||||||
| chr1:12281701 | C | T | 9 | a0001c0002t0007g0066 a0001c0012t0002g0074 a0001c0012t0008g0067 others(6): Show |
9 | HG01109.hp1 HG01243.hp2 HG01884.hp1 others(6): Show |
intron_variant | MODIFIER | c.4603-1004C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 20/69 | chr1 | 12281701 | |||||||
| chr1:12281766 | A | G | 1 | a0014c0020t0023g0077 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.4603-939A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 20/69 | chr1 | 12281766 | |||||||
| chr1:12281966 | T | C | 77 | a0001c0001t0001g0037 a0001c0001t0002g0034 a0001c0001t0002g0038 others(74): Show |
77 | HG00408.hp2 HG00438.hp2 HG01099.hp2 others(74): Show |
intron_variant | MODIFIER | c.4603-739T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 20/69 | chr1 | 12281966 | |||||||
| chr1:12282127 | G | A | 22 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(19): Show |
22 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(19): Show |
intron_variant | MODIFIER | c.4603-578G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 20/69 | chr1 | 12282127 | |||||||
| chr1:12282258 | A | T | 4 | a0001c0009t0004g0018 a0001c0009t0008g0017 a0001c0009t0022g0076 others(1): Show |
4 | HG01255.hp2 HG03579.hp1 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.4603-447A>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 20/69 | chr1 | 12282258 | |||||||
| chr1:12282312 | T | A | 82 | a0001c0001t0001g0037 a0001c0001t0002g0034 a0001c0001t0002g0038 others(79): Show |
82 | HG00408.hp2 HG00438.hp2 HG01099.hp2 others(79): Show |
intron_variant | MODIFIER | c.4603-393T>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 20/69 | chr1 | 12282312 | |||||||
| chr1:12282381 | C | G | 1 | a0002c0004t0001g0096 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.4603-324C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 20/69 | chr1 | 12282381 | |||||||
| chr1:12282492 | G | A | 5 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0007c0029t0011g0144 others(2): Show |
5 | HG01891.hp2 HG02717.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.4603-213G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 20/69 | chr1 | 12282492 | |||||||
| chr1:12282542 | T | G | 84 | a0001c0001t0001g0037 a0001c0001t0002g0034 a0001c0001t0002g0038 others(81): Show |
84 | HG00408.hp2 HG00438.hp2 HG01099.hp2 others(81): Show |
intron_variant | MODIFIER | c.4603-163T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 20/69 | chr1 | 12282542 | |||||||
| chr1:12282624 | G | A | 22 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(19): Show |
22 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(19): Show |
intron_variant | MODIFIER | c.4603-81G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 20/69 | chr1 | 12282624 | |||||||
| chr1:12282696 | T | A | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.4603-9T>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 20/69 | chr1 | 12282696 | |||||||
| chr1:12284175 | A | C | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.5634+439A>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | chr1 | 12284175 | |||||||
| chr1:12284208 | G | A | 4 | a0001c0009t0004g0018 a0001c0009t0008g0017 a0001c0009t0022g0076 others(1): Show |
4 | HG01255.hp2 HG03579.hp1 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.5634+472G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | chr1 | 12284208 | |||||||
| chr1:12284467 | T | C | 12 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(9): Show |
12 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.5634+731T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | chr1 | 12284467 | |||||||
| chr1:12284574 | G | A | 12 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(9): Show |
12 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.5634+838G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | chr1 | 12284574 | |||||||
| chr1:12284652 | A | G | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.5634+916A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | chr1 | 12284652 | |||||||
| chr1:12284691 | T | C | 12 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(9): Show |
12 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.5634+955T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | chr1 | 12284691 | |||||||
| chr1:12285209 | A | G | 12 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(9): Show |
12 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.5634+1473A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | chr1 | 12285209 | |||||||
| chr1:12285266 | G | GTATT | 2 | a0003c0007t0007g0154 a0013c0027t0001g0105 |
2 | HG03130.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.5634+1560_5634+156 others(8): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | INFO_REALIGN_3_PRIME | chr1 | 12285266 | ||||||
| chr1:12285266 | GTATTTAT others(5): Show |
G | 1 | a0001c0002t0004g0047 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.5634+1552_5634+156 others(16): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | INFO_REALIGN_3_PRIME | chr1 | 12285266 | ||||||
| chr1:12285270 | T | G | 1 | a0001c0001t0011g0107 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.5634+1534T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | chr1 | 12285270 | |||||||
| chr1:12285288 | A | ATTTAT | 2 | a0001c0009t0004g0018 a0001c0009t0008g0017 |
2 | HG03579.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.5634+1555_5634+155 others(9): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | INFO_REALIGN_3_PRIME | chr1 | 12285288 | ||||||
| chr1:12285292 | A | T | 8 | a0001c0001t0001g0125 a0001c0001t0002g0140 a0001c0001t0021g0122 others(5): Show |
8 | HG02523.hp2 HG02572.hp1 HG02895.hp2 others(5): Show |
intron_variant | MODIFIER | c.5634+1556A>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | chr1 | 12285292 | |||||||
| chr1:12285293 | T | A | 1 | a0001c0003t0016g0063 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.5634+1557T>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | chr1 | 12285293 | |||||||
| chr1:12285296 | A | T | 87 | a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0084 others(84): Show |
87 | HG00408.hp2 HG00438.hp2 HG01099.hp1 others(84): Show |
intron_variant | MODIFIER | c.5634+1560A>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | chr1 | 12285296 | |||||||
| chr1:12285297 | T | A | 2 | a0001c0003t0002g0055 a0001c0003t0002g0056 |
2 | NA18951.hp1 NA19070.hp2 |
intron_variant | MODIFIER | c.5634+1561T>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | chr1 | 12285297 | |||||||
| chr1:12285303 | T | A | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.5634+1567T>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | chr1 | 12285303 | |||||||
| chr1:12285394 | A | G | 84 | a0001c0001t0001g0037 a0001c0001t0002g0034 a0001c0001t0002g0038 others(81): Show |
84 | HG00408.hp2 HG00438.hp2 HG01099.hp2 others(81): Show |
intron_variant | MODIFIER | c.5634+1658A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | chr1 | 12285394 | |||||||
| chr1:12285429 | T | C | 2 | a0001c0009t0022g0076 a0014c0020t0023g0077 |
2 | HG01255.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.5634+1693T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | chr1 | 12285429 | |||||||
| chr1:12285521 | C | T | 1 | a0001c0001t0004g0148 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.5634+1785C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | chr1 | 12285521 | |||||||
| chr1:12285582 | G | A | 1 | a0001c0001t0001g0088 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.5634+1846G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | chr1 | 12285582 | |||||||
| chr1:12285696 | A | G | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.5634+1960A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | chr1 | 12285696 | |||||||
| chr1:12285796 | A | G | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.5634+2060A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | chr1 | 12285796 | |||||||
| chr1:12285929 | C | CTTCCT | 7 | a0001c0001t0001g0091 a0001c0001t0001g0146 a0001c0001t0001g0147 others(4): Show |
7 | HG01255.hp2 HG02698.hp2 HG03017.hp2 others(4): Show |
intron_variant | MODIFIER | c.5635-2233_5635-222 others(9): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | INFO_REALIGN_3_PRIME | chr1 | 12285929 | ||||||
| chr1:12285929 | C | CTTCCTTT others(3): Show |
4 | a0001c0006t0010g0003 a0001c0006t0010g0010 a0012c0028t0013g0141 others(1): Show |
4 | HG02698.hp1 HG03486.hp1 HG04204.hp2 others(1): Show |
intron_variant | MODIFIER | c.5635-2238_5635-222 others(14): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | INFO_REALIGN_3_PRIME | chr1 | 12285929 | ||||||
| chr1:12285929 | C | CTTCCTTT others(8): Show |
3 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0007c0029t0011g0144 |
3 | HG01891.hp2 HG02717.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.5635-2243_5635-222 others(19): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | INFO_REALIGN_3_PRIME | chr1 | 12285929 | ||||||
| chr1:12285929 | CTTCCT | C | 16 | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0114 others(13): Show |
16 | HG00438.hp1 HG01099.hp1 HG01433.hp1 others(13): Show |
intron_variant | MODIFIER | c.5635-2233_5635-222 others(9): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | INFO_REALIGN_3_PRIME | chr1 | 12285929 | ||||||
| chr1:12285929 | CTTCCTTT others(3): Show |
C | 23 | a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 others(20): Show |
23 | HG01071.hp1 HG01106.hp2 HG01943.hp2 others(20): Show |
intron_variant | MODIFIER | c.5635-2238_5635-222 others(14): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | INFO_REALIGN_3_PRIME | chr1 | 12285929 | ||||||
| chr1:12285929 | CTTCCTTT others(8): Show |
C | 7 | a0001c0001t0001g0123 a0001c0001t0001g0145 a0001c0001t0006g0130 others(4): Show |
7 | HG00408.hp1 HG02004.hp1 HG02004.hp2 others(4): Show |
intron_variant | MODIFIER | c.5635-2243_5635-222 others(19): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | INFO_REALIGN_3_PRIME | chr1 | 12285929 | ||||||
| chr1:12285929 | CTTCCTTT others(13): Show |
C | 3 | a0001c0001t0001g0037 a0001c0001t0012g0119 a0011c0023t0002g0036 |
3 | HG01256.hp2 HG02965.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.5634+2239_5635-222 others(24): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | INFO_REALIGN_3_PRIME | chr1 | 12285929 | ||||||
| chr1:12285929 | CTTCCTTT others(18): Show |
C | 2 | a0001c0011t0011g0016 a0001c0011t0018g0015 |
2 | HG02895.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.5634+2234_5635-222 others(29): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | INFO_REALIGN_3_PRIME | chr1 | 12285929 | ||||||
| chr1:12285960 | TTCCTTTC others(28): Show |
T | 1 | a0001c0002t0004g0047 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.5634+2229_5635-222 others(39): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | INFO_REALIGN_3_PRIME | chr1 | 12285960 | ||||||
| chr1:12285965 | TTCCTTTC others(23): Show |
T | 2 | a0001c0001t0015g0069 a0001c0002t0015g0057 |
2 | HG01106.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.5634+2234_5635-222 others(34): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | INFO_REALIGN_3_PRIME | chr1 | 12285965 | ||||||
| chr1:12285970 | T | TTCCTCTC others(23): Show |
1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.5634+2238_5634+223 others(34): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | INFO_REALIGN_3_PRIME | chr1 | 12285970 | ||||||
| chr1:12285975 | T | C | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.5634+2239T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | chr1 | 12285975 | |||||||
| chr1:12285975 | TTCCTTTC others(13): Show |
T | 3 | a0001c0003t0001g0058 a0001c0003t0005g0050 a0001c0003t0016g0063 |
3 | HG02965.hp2 NA18906.hp1 NA19010.hp2 |
intron_variant | MODIFIER | c.5635-2243_5635-222 others(24): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | INFO_REALIGN_3_PRIME | chr1 | 12285975 | ||||||
| chr1:12285980 | T | C | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.5635-2243T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | chr1 | 12285980 | |||||||
| chr1:12285980 | TTCCTTTC others(8): Show |
T | 32 | a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0064 others(29): Show |
32 | HG00408.hp2 HG00438.hp2 HG01256.hp1 others(29): Show |
intron_variant | MODIFIER | c.5635-2238_5635-222 others(19): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | INFO_REALIGN_3_PRIME | chr1 | 12285980 | ||||||
| chr1:12285985 | T | C | 6 | a0001c0001t0001g0022 a0001c0001t0004g0082 a0001c0001t0020g0078 others(3): Show |
6 | HG01433.hp1 HG02717.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.5635-2238T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | chr1 | 12285985 | |||||||
| chr1:12285985 | TTCCTTTC others(3): Show |
T | 8 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0016g0032 others(5): Show |
8 | HG01099.hp2 HG01346.hp2 HG01993.hp1 others(5): Show |
intron_variant | MODIFIER | c.5635-2233_5635-222 others(14): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | INFO_REALIGN_3_PRIME | chr1 | 12285985 | ||||||
| chr1:12285990 | T | C | 32 | a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 others(29): Show |
32 | HG00408.hp1 HG01071.hp1 HG01099.hp1 others(29): Show |
intron_variant | MODIFIER | c.5635-2233T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | chr1 | 12285990 | |||||||
| chr1:12285990 | T | TTCCTC | 8 | a0001c0001t0004g0126 a0001c0001t0019g0102 a0001c0002t0001g0099 others(5): Show |
8 | HG01071.hp2 HG01243.hp2 HG01255.hp1 others(5): Show |
intron_variant | MODIFIER | c.5635-2202_5635-219 others(9): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | INFO_REALIGN_3_PRIME | chr1 | 12285990 | ||||||
| chr1:12285990 | T | TTCCTCTC others(3): Show |
4 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0007c0029t0011g0144 others(1): Show |
4 | HG01891.hp2 HG02717.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.5635-2207_5635-219 others(14): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | INFO_REALIGN_3_PRIME | chr1 | 12285990 | ||||||
| chr1:12285990 | TTCCTC | T | 16 | a0001c0001t0002g0140 a0001c0005t0002g0068 a0001c0006t0003g0009 others(13): Show |
16 | HG01243.hp1 HG01255.hp2 HG01361.hp1 others(13): Show |
intron_variant | MODIFIER | c.5635-2202_5635-219 others(9): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | INFO_REALIGN_3_PRIME | chr1 | 12285990 | ||||||
| chr1:12286232 | C | T | 5 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0007c0029t0011g0144 others(2): Show |
5 | HG01891.hp2 HG02717.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.5635-1991C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | chr1 | 12286232 | |||||||
| chr1:12286319 | C | T | 1 | a0002c0032t0001g0021 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.5635-1904C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | chr1 | 12286319 | |||||||
| chr1:12286341 | G | C | 13 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.5635-1882G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | chr1 | 12286341 | |||||||
| chr1:12286439 | G | A | 1 | a0001c0009t0022g0076 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.5635-1784G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | chr1 | 12286439 | |||||||
| chr1:12286543 | T | C | 12 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(9): Show |
12 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.5635-1680T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | chr1 | 12286543 | |||||||
| chr1:12286651 | AG | A | 2 | a0001c0009t0004g0018 a0001c0009t0008g0017 |
2 | HG03579.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.5635-1571delG | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | chr1 | 12286651 | |||||||
| chr1:12286878 | T | C | 5 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0007c0029t0011g0144 others(2): Show |
5 | HG01891.hp2 HG02717.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.5635-1345T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | chr1 | 12286878 | |||||||
| chr1:12286900 | A | G | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.5635-1323A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | chr1 | 12286900 | |||||||
| chr1:12287281 | G | A | 84 | a0001c0001t0001g0037 a0001c0001t0002g0034 a0001c0001t0002g0038 others(81): Show |
84 | HG00408.hp2 HG00438.hp2 HG01099.hp2 others(81): Show |
intron_variant | MODIFIER | c.5635-942G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | chr1 | 12287281 | |||||||
| chr1:12287330 | T | C | 82 | a0001c0001t0001g0037 a0001c0001t0002g0034 a0001c0001t0002g0038 others(79): Show |
82 | HG00408.hp2 HG00438.hp2 HG01099.hp2 others(79): Show |
intron_variant | MODIFIER | c.5635-893T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | chr1 | 12287330 | |||||||
| chr1:12287331 | T | C | 82 | a0001c0001t0001g0037 a0001c0001t0002g0034 a0001c0001t0002g0038 others(79): Show |
82 | HG00408.hp2 HG00438.hp2 HG01099.hp2 others(79): Show |
intron_variant | MODIFIER | c.5635-892T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | chr1 | 12287331 | |||||||
| chr1:12287492 | A | G | 1 | a0001c0005t0004g0060 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.5635-731A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | chr1 | 12287492 | |||||||
| chr1:12287943 | T | A | 1 | a0001c0001t0004g0148 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.5635-280T>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | chr1 | 12287943 | |||||||
| chr1:12288323 | G | T | 3 | a0001c0002t0007g0066 a0001c0012t0002g0074 a0001c0012t0008g0067 |
3 | HG01243.hp2 HG02622.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.5725+10G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 22/69 | chr1 | 12288323 | |||||||
| chr1:12288584 | A | C | 13 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.5725+271A>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 22/69 | chr1 | 12288584 | |||||||
| chr1:12288644 | C | CT | 4 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0007c0029t0011g0144 others(1): Show |
4 | HG01891.hp2 HG02717.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.5725+339dupT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 22/69 | INFO_REALIGN_3_PRIME | chr1 | 12288644 | ||||||
| chr1:12288655 | T | C | 1 | a0003c0007t0007g0150 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.5725+342T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 22/69 | chr1 | 12288655 | |||||||
| chr1:12288797 | G | A | 1 | a0001c0002t0008g0044 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.5725+484G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 22/69 | chr1 | 12288797 | |||||||
| chr1:12289057 | T | G | 82 | a0001c0001t0001g0037 a0001c0001t0002g0034 a0001c0001t0002g0038 others(79): Show |
82 | HG00408.hp2 HG00438.hp2 HG01099.hp2 others(79): Show |
intron_variant | MODIFIER | c.5725+744T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 22/69 | chr1 | 12289057 | |||||||
| chr1:12289229 | T | A | 12 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(9): Show |
12 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.5725+916T>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 22/69 | chr1 | 12289229 | |||||||
| chr1:12289313 | A | G | 1 | a0003c0007t0007g0154 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.5725+1000A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 22/69 | chr1 | 12289313 | |||||||
| chr1:12289469 | A | T | 1 | a0015c0016t0026g0149 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.5725+1156A>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 22/69 | chr1 | 12289469 | |||||||
| chr1:12289563 | C | CT | 13 | a0001c0002t0007g0066 a0001c0011t0011g0016 a0001c0011t0018g0015 others(10): Show |
13 | HG01109.hp1 HG01243.hp2 HG01884.hp1 others(10): Show |
intron_variant | MODIFIER | c.5725+1264dupT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 22/69 | INFO_REALIGN_3_PRIME | chr1 | 12289563 | ||||||
| chr1:12289920 | A | T | 1 | a0001c0001t0019g0102 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.5726-1078A>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 22/69 | chr1 | 12289920 | |||||||
| chr1:12290019 | C | T | 2 | a0001c0001t0002g0043 a0001c0001t0002g0072 |
2 | HG02083.hp2 NA18959.hp2 |
intron_variant | MODIFIER | c.5726-979C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 22/69 | chr1 | 12290019 | |||||||
| chr1:12290614 | C | G | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.5726-384C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 22/69 | chr1 | 12290614 | |||||||
| chr1:12290617 | C | T | 2 | a0001c0001t0001g0109 a0001c0001t0001g0110 |
2 | NA18971.hp1 NA19063.hp2 |
intron_variant | MODIFIER | c.5726-381C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 22/69 | chr1 | 12290617 | |||||||
| chr1:12290716 | C | CT | 2 | a0001c0013t0001g0065 a0001c0013t0001g0073 |
2 | HG03195.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.5726-281dupT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 22/69 | INFO_REALIGN_3_PRIME | chr1 | 12290716 | ||||||
| chr1:12290721 | T | TA | 7 | a0001c0001t0001g0088 a0001c0001t0002g0064 a0004c0030t0014g0143 others(4): Show |
7 | HG01891.hp2 HG02717.hp1 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.5726-261dupA | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 22/69 | INFO_REALIGN_3_PRIME | chr1 | 12290721 | ||||||
| chr1:12290737 | AT | A | 2 | a0001c0009t0004g0018 a0001c0009t0008g0017 |
2 | HG03579.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.5726-260delT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 22/69 | chr1 | 12290737 | |||||||
| chr1:12291214 | T | A | 1 | a0001c0003t0016g0063 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.5852+90T>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 23/69 | chr1 | 12291214 | |||||||
| chr1:12291376 | C | G | 1 | a0001c0001t0001g0145 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.5852+252C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 23/69 | chr1 | 12291376 | |||||||
| chr1:12292202 | T | C | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.5852+1078T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 23/69 | chr1 | 12292202 | |||||||
| chr1:12292262 | C | CA | 81 | a0001c0001t0001g0023 a0001c0001t0001g0037 a0001c0001t0001g0084 others(78): Show |
81 | HG00408.hp1 HG00438.hp1 HG00438.hp2 others(78): Show |
intron_variant | MODIFIER | c.5852+1162dupA | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 23/69 | INFO_REALIGN_3_PRIME | chr1 | 12292262 | ||||||
| chr1:12292262 | C | CAA | 14 | a0001c0006t0003g0007 a0001c0006t0003g0009 a0001c0006t0003g0013 others(11): Show |
14 | HG01346.hp2 HG01361.hp1 HG01433.hp2 others(11): Show |
intron_variant | MODIFIER | c.5852+1161_5852+116 others(6): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 23/69 | INFO_REALIGN_3_PRIME | chr1 | 12292262 | ||||||
| chr1:12292331 | CT | C | 8 | a0001c0009t0004g0018 a0001c0009t0008g0017 a0001c0009t0022g0076 others(5): Show |
8 | HG01255.hp2 HG02717.hp1 HG03195.hp2 others(5): Show |
intron_variant | MODIFIER | c.5853-1183delT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 23/69 | INFO_REALIGN_3_PRIME | chr1 | 12292331 | ||||||
| chr1:12292435 | C | CT | 32 | a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0124 others(29): Show |
32 | HG00408.hp1 HG00438.hp1 HG01099.hp2 others(29): Show |
intron_variant | MODIFIER | c.5853-1067dupT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 23/69 | INFO_REALIGN_3_PRIME | chr1 | 12292435 | ||||||
| chr1:12292435 | C | CTT | 11 | a0001c0003t0002g0055 a0001c0003t0002g0056 a0001c0003t0005g0049 others(8): Show |
11 | HG01256.hp1 HG01433.hp2 HG02273.hp1 others(8): Show |
intron_variant | MODIFIER | c.5853-1068_5853-106 others(6): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 23/69 | INFO_REALIGN_3_PRIME | chr1 | 12292435 | ||||||
| chr1:12292465 | G | A | 13 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.5853-1059G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 23/69 | chr1 | 12292465 | |||||||
| chr1:12292675 | G | C | 2 | a0001c0013t0001g0065 a0001c0013t0001g0073 |
2 | HG03195.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.5853-849G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 23/69 | chr1 | 12292675 | |||||||
| chr1:12292813 | G | A | 1 | a0001c0001t0001g0113 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.5853-711G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 23/69 | chr1 | 12292813 | |||||||
| chr1:12293815 | T | C | 2 | a0001c0009t0022g0076 a0014c0020t0023g0077 |
2 | HG01255.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.6033+111T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 24/69 | chr1 | 12293815 | |||||||
| chr1:12293816 | G | A | 1 | a0001c0009t0022g0076 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.6033+112G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 24/69 | chr1 | 12293816 | |||||||
| chr1:12294058 | C | T | 1 | a0004c0030t0014g0143 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.6033+354C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 24/69 | chr1 | 12294058 | |||||||
| chr1:12294118 | C | G | 8 | a0001c0009t0004g0018 a0001c0009t0008g0017 a0001c0009t0022g0076 others(5): Show |
8 | HG01255.hp2 HG02717.hp1 HG03195.hp2 others(5): Show |
intron_variant | MODIFIER | c.6033+414C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 24/69 | chr1 | 12294118 | |||||||
| chr1:12294250 | C | T | 4 | a0003c0007t0007g0150 a0003c0007t0007g0151 a0003c0007t0007g0152 others(1): Show |
4 | HG01109.hp1 HG01884.hp1 HG02622.hp1 others(1): Show |
intron_variant | MODIFIER | c.6033+546C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 24/69 | chr1 | 12294250 | |||||||
| chr1:12294386 | C | T | 2 | a0001c0011t0011g0016 a0001c0011t0018g0015 |
2 | HG02895.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.6033+682C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 24/69 | chr1 | 12294386 | |||||||
| chr1:12294535 | C | T | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.6033+831C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 24/69 | chr1 | 12294535 | |||||||
| chr1:12294641 | C | T | 1 | a0007c0029t0011g0144 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.6033+937C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 24/69 | chr1 | 12294641 | |||||||
| chr1:12294927 | T | A | 1 | a0001c0002t0004g0047 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.6033+1223T>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 24/69 | chr1 | 12294927 | |||||||
| chr1:12294949 | G | A | 2 | a0001c0009t0004g0018 a0001c0009t0008g0017 |
2 | HG03579.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.6033+1245G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 24/69 | chr1 | 12294949 | |||||||
| chr1:12295076 | GC | G | 2 | a0001c0011t0011g0016 a0001c0011t0018g0015 |
2 | HG02895.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.6033+1374delC | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 24/69 | INFO_REALIGN_3_PRIME | chr1 | 12295076 | ||||||
| chr1:12295078 | CG | C | 34 | a0001c0001t0001g0037 a0001c0001t0002g0034 a0001c0001t0002g0038 others(31): Show |
34 | HG00408.hp2 HG00438.hp2 HG01109.hp1 others(31): Show |
intron_variant | MODIFIER | c.6033+1377delG | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 24/69 | INFO_REALIGN_3_PRIME | chr1 | 12295078 | ||||||
| chr1:12295079 | G | T | 2 | a0001c0011t0011g0016 a0001c0011t0018g0015 |
2 | HG02895.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.6033+1375G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 24/69 | chr1 | 12295079 | |||||||
| chr1:12295119 | G | A | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.6033+1415G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 24/69 | chr1 | 12295119 | |||||||
| chr1:12295222 | C | CA | 24 | a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 others(21): Show |
24 | HG01106.hp2 HG01109.hp1 HG01891.hp2 others(21): Show |
intron_variant | MODIFIER | c.6033+1536dupA | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 24/69 | INFO_REALIGN_3_PRIME | chr1 | 12295222 | ||||||
| chr1:12295222 | C | CAA | 5 | a0001c0001t0001g0086 a0001c0001t0004g0139 a0003c0007t0007g0151 others(2): Show |
5 | HG01884.hp1 HG02622.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.6033+1535_6033+153 others(6): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 24/69 | INFO_REALIGN_3_PRIME | chr1 | 12295222 | ||||||
| chr1:12295222 | CA | C | 36 | a0001c0001t0015g0069 a0001c0002t0004g0047 a0001c0002t0015g0057 others(33): Show |
36 | HG01099.hp2 HG01106.hp1 HG01243.hp1 others(33): Show |
intron_variant | MODIFIER | c.6033+1536delA | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 24/69 | INFO_REALIGN_3_PRIME | chr1 | 12295222 | ||||||
| chr1:12295236 | A | AC | 4 | a0001c0005t0001g0132 a0001c0005t0004g0111 a0001c0009t0022g0076 others(1): Show |
4 | HG01255.hp2 HG02683.hp2 HG02738.hp1 others(1): Show |
intron_variant | MODIFIER | c.6033+1532_6033+153 others(5): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 24/69 | chr1 | 12295236 | |||||||
| chr1:12295236 | A | C | 38 | a0001c0001t0015g0069 a0001c0002t0004g0047 a0001c0002t0015g0057 others(35): Show |
38 | HG01099.hp2 HG01106.hp1 HG01243.hp1 others(35): Show |
intron_variant | MODIFIER | c.6033+1532A>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 24/69 | chr1 | 12295236 | |||||||
| chr1:12295269 | T | C | 1 | a0001c0001t0002g0043 | 1 | NA18959.hp2 | intron_variant | MODIFIER | c.6033+1565T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 24/69 | chr1 | 12295269 | |||||||
| chr1:12295352 | T | C | 12 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(9): Show |
12 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.6033+1648T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 24/69 | chr1 | 12295352 | |||||||
| chr1:12295437 | T | C | 83 | a0001c0001t0001g0037 a0001c0001t0002g0034 a0001c0001t0002g0038 others(80): Show |
83 | HG00408.hp2 HG00438.hp2 HG01099.hp2 others(80): Show |
intron_variant | MODIFIER | c.6033+1733T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 24/69 | chr1 | 12295437 | |||||||
| chr1:12295907 | C | T | 1 | a0014c0020t0023g0077 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.6033+2203C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 24/69 | chr1 | 12295907 | |||||||
| chr1:12296213 | G | A | 1 | a0001c0002t0002g0035 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.6033+2509G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 24/69 | chr1 | 12296213 | |||||||
| chr1:12296833 | A | G | 1 | a0001c0002t0015g0057 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.6034-2369A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 24/69 | chr1 | 12296833 | |||||||
| chr1:12297329 | C | T | 1 | a0001c0002t0002g0039 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.6034-1873C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 24/69 | chr1 | 12297329 | |||||||
| chr1:12297330 | A | G | 1 | a0001c0001t0004g0126 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.6034-1872A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 24/69 | chr1 | 12297330 | |||||||
| chr1:12297451 | G | A | 2 | a0001c0003t0001g0058 a0001c0003t0016g0063 |
2 | HG02965.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.6034-1751G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 24/69 | chr1 | 12297451 | |||||||
| chr1:12297484 | T | G | 1 | a0001c0012t0008g0067 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.6034-1718T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 24/69 | chr1 | 12297484 | |||||||
| chr1:12298194 | C | T | 1 | a0015c0016t0026g0149 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.6034-1008C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 24/69 | chr1 | 12298194 | |||||||
| chr1:12298850 | TC | T | 4 | a0001c0009t0004g0018 a0001c0009t0008g0017 a0001c0009t0022g0076 others(1): Show |
4 | HG01255.hp2 HG03579.hp1 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.6034-351delC | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 24/69 | chr1 | 12298850 | |||||||
| chr1:12299118 | C | G | 2 | a0001c0009t0022g0076 a0014c0020t0023g0077 |
2 | HG01255.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.6034-84C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 24/69 | chr1 | 12299118 | |||||||
| chr1:12299618 | G | A | 3 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 |
3 | HG02717.hp1 HG03195.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.6216+234G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 25/69 | chr1 | 12299618 | |||||||
| chr1:12299774 | G | A | 1 | a0001c0001t0020g0078 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.6216+390G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 25/69 | chr1 | 12299774 | |||||||
| chr1:12299815 | C | T | 8 | a0001c0009t0004g0018 a0001c0009t0008g0017 a0001c0009t0022g0076 others(5): Show |
8 | HG01255.hp2 HG02717.hp1 HG03195.hp2 others(5): Show |
intron_variant | MODIFIER | c.6216+431C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 25/69 | chr1 | 12299815 | |||||||
| chr1:12299821 | T | C | 1 | a0001c0001t0001g0116 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.6216+437T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 25/69 | chr1 | 12299821 | |||||||
| chr1:12300003 | T | G | 3 | a0001c0002t0007g0066 a0001c0012t0002g0074 a0001c0012t0008g0067 |
3 | HG01243.hp2 HG02622.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.6216+619T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 25/69 | chr1 | 12300003 | |||||||
| chr1:12300008 | G | A | 2 | a0001c0001t0001g0037 a0011c0023t0002g0036 |
2 | HG02965.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.6216+624G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 25/69 | chr1 | 12300008 | |||||||
| chr1:12300207 | C | CT | 140 | a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 others(137): Show |
140 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(137): Show |
intron_variant | MODIFIER | c.6216+841dupT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 25/69 | INFO_REALIGN_3_PRIME | chr1 | 12300207 | ||||||
| chr1:12300207 | C | CTT | 9 | a0001c0001t0001g0117 a0001c0001t0002g0064 a0001c0002t0001g0089 others(6): Show |
9 | HG00408.hp1 HG02071.hp1 HG02132.hp2 others(6): Show |
intron_variant | MODIFIER | c.6216+840_6216+841d others(4): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 25/69 | INFO_REALIGN_3_PRIME | chr1 | 12300207 | ||||||
| chr1:12300328 | C | T | 1 | a0007c0029t0011g0144 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.6216+944C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 25/69 | chr1 | 12300328 | |||||||
| chr1:12300714 | A | C | 7 | a0001c0009t0004g0018 a0001c0009t0008g0017 a0001c0009t0022g0076 others(4): Show |
7 | HG01255.hp2 HG02717.hp1 HG03486.hp1 others(4): Show |
intron_variant | MODIFIER | c.6216+1330A>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 25/69 | chr1 | 12300714 | |||||||
| chr1:12301069 | G | A | 2 | a0001c0009t0004g0018 a0001c0009t0008g0017 |
2 | HG03579.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.6216+1685G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 25/69 | chr1 | 12301069 | |||||||
| chr1:12301312 | C | G | 1 | a0001c0001t0002g0034 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.6216+1928C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 25/69 | chr1 | 12301312 | |||||||
| chr1:12301413 | C | T | 7 | a0003c0007t0007g0150 a0003c0007t0007g0151 a0003c0007t0007g0152 others(4): Show |
7 | HG01109.hp1 HG01884.hp1 HG01891.hp2 others(4): Show |
intron_variant | MODIFIER | c.6216+2029C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 25/69 | chr1 | 12301413 | |||||||
| chr1:12301504 | G | A | 12 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(9): Show |
12 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.6216+2120G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 25/69 | chr1 | 12301504 | |||||||
| chr1:12301564 | T | C | 2 | a0001c0002t0002g0040 a0001c0002t0002g0041 |
2 | HG03491.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.6216+2180T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 25/69 | chr1 | 12301564 | |||||||
| chr1:12301719 | G | A | 2 | a0005c0010t0008g0070 a0005c0010t0008g0071 |
2 | HG02809.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.6216+2335G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 25/69 | chr1 | 12301719 | |||||||
| chr1:12301749 | C | T | 2 | a0001c0001t0001g0112 a0001c0001t0001g0113 |
2 | HG01943.hp2 HG02273.hp2 |
intron_variant | MODIFIER | c.6216+2365C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 25/69 | chr1 | 12301749 | |||||||
| chr1:12302567 | G | C | 1 | a0018c0015t0024g0001 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.6217-1939G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 25/69 | chr1 | 12302567 | |||||||
| chr1:12302832 | CT | C | 21 | a0001c0001t0004g0126 a0001c0001t0012g0119 a0001c0006t0003g0004 others(18): Show |
21 | HG01071.hp1 HG01099.hp1 HG01099.hp2 others(18): Show |
intron_variant | MODIFIER | c.6217-1655delT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 25/69 | INFO_REALIGN_3_PRIME | chr1 | 12302832 | ||||||
| chr1:12303202 | C | T | 1 | a0001c0001t0004g0082 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.6217-1304C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 25/69 | chr1 | 12303202 | |||||||
| chr1:12303388 | T | C | 1 | a0001c0001t0020g0078 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.6217-1118T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 25/69 | chr1 | 12303388 | |||||||
| chr1:12303754 | C | T | 49 | a0001c0001t0001g0037 a0001c0001t0002g0034 a0001c0001t0002g0038 others(46): Show |
49 | HG00408.hp2 HG00438.hp2 HG01106.hp1 others(46): Show |
intron_variant | MODIFIER | c.6217-752C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 25/69 | chr1 | 12303754 | |||||||
| chr1:12303803 | G | C | 12 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(9): Show |
12 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.6217-703G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 25/69 | chr1 | 12303803 | |||||||
| chr1:12303996 | T | C | 1 | a0001c0001t0001g0088 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.6217-510T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 25/69 | chr1 | 12303996 | |||||||
| chr1:12304207 | A | G | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.6217-299A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 25/69 | chr1 | 12304207 | |||||||
| chr1:12305033 | T | C | 1 | a0001c0024t0001g0127 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.6439+305T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 26/69 | chr1 | 12305033 | |||||||
| chr1:12305093 | T | TA | 13 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.6439+367dupA | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 26/69 | INFO_REALIGN_3_PRIME | chr1 | 12305093 | ||||||
| chr1:12305270 | T | C | 1 | a0018c0015t0024g0001 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.6439+542T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 26/69 | chr1 | 12305270 | |||||||
| chr1:12305305 | C | G | 1 | a0002c0004t0001g0103 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.6439+577C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 26/69 | chr1 | 12305305 | |||||||
| chr1:12305579 | C | T | 1 | a0001c0001t0004g0148 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.6439+851C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 26/69 | chr1 | 12305579 | |||||||
| chr1:12305733 | A | G | 1 | a0001c0003t0001g0058 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.6439+1005A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 26/69 | chr1 | 12305733 | |||||||
| chr1:12305968 | CTATTTTT others(5): Show |
C | 13 | a0001c0002t0008g0044 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.6439+1260_6439+127 others(16): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 26/69 | INFO_REALIGN_3_PRIME | chr1 | 12305968 | ||||||
| chr1:12306008 | G | A | 1 | a0001c0006t0003g0007 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.6439+1280G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 26/69 | chr1 | 12306008 | |||||||
| chr1:12306015 | A | G | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.6439+1287A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 26/69 | chr1 | 12306015 | |||||||
| chr1:12306108 | C | T | 49 | a0001c0001t0001g0037 a0001c0001t0002g0034 a0001c0001t0002g0038 others(46): Show |
49 | HG00408.hp2 HG00438.hp2 HG01106.hp1 others(46): Show |
intron_variant | MODIFIER | c.6439+1380C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 26/69 | chr1 | 12306108 | |||||||
| chr1:12306367 | A | G | 1 | a0001c0001t0001g0088 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.6439+1639A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 26/69 | chr1 | 12306367 | |||||||
| chr1:12306389 | C | T | 12 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(9): Show |
12 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.6439+1661C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 26/69 | chr1 | 12306389 | |||||||
| chr1:12306433 | C | T | 1 | a0001c0001t0004g0136 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.6439+1705C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 26/69 | chr1 | 12306433 | |||||||
| chr1:12306451 | G | A | 2 | a0001c0009t0022g0076 a0014c0020t0023g0077 |
2 | HG01255.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.6439+1723G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 26/69 | chr1 | 12306451 | |||||||
| chr1:12306653 | A | G | 2 | a0001c0009t0004g0018 a0001c0009t0008g0017 |
2 | HG03579.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.6440-1778A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 26/69 | chr1 | 12306653 | |||||||
| chr1:12306755 | C | T | 1 | a0001c0009t0022g0076 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.6440-1676C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 26/69 | chr1 | 12306755 | |||||||
| chr1:12306794 | C | G | 1 | a0001c0001t0001g0098 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.6440-1637C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 26/69 | chr1 | 12306794 | |||||||
| chr1:12307086 | A | G | 1 | a0001c0001t0010g0120 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.6440-1345A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 26/69 | chr1 | 12307086 | |||||||
| chr1:12307109 | A | C | 21 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(18): Show |
21 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(18): Show |
intron_variant | MODIFIER | c.6440-1322A>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 26/69 | chr1 | 12307109 | |||||||
| chr1:12307724 | T | C | 2 | a0004c0030t0014g0143 a0004c0031t0014g0142 |
2 | HG02717.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.6440-707T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 26/69 | chr1 | 12307724 | |||||||
| chr1:12307781 | C | T | 8 | a0001c0002t0002g0045 a0001c0009t0008g0017 a0001c0009t0022g0076 others(5): Show |
8 | HG01255.hp2 HG02165.hp1 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.6440-650C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 26/69 | chr1 | 12307781 | |||||||
| chr1:12307868 | A | G | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.6440-563A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 26/69 | chr1 | 12307868 | |||||||
| chr1:12308138 | G | C | 12 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(9): Show |
12 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.6440-293G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 26/69 | chr1 | 12308138 | |||||||
| chr1:12308279 | A | C | 4 | a0001c0001t0010g0120 a0001c0001t0012g0119 a0001c0001t0012g0121 others(1): Show |
4 | HG00408.hp1 HG01256.hp2 HG02004.hp1 others(1): Show |
intron_variant | MODIFIER | c.6440-152A>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 26/69 | chr1 | 12308279 | |||||||
| chr1:12308648 | G | GT | 7 | a0001c0009t0008g0017 a0001c0009t0022g0076 a0004c0030t0014g0143 others(4): Show |
7 | HG01255.hp2 HG02717.hp1 HG03195.hp2 others(4): Show |
intron_variant | MODIFIER | c.6650+22dupT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 27/69 | INFO_REALIGN_3_PRIME | chr1 | 12308648 | ||||||
| chr1:12308730 | A | G | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.6650+89A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 27/69 | chr1 | 12308730 | |||||||
| chr1:12308745 | G | A | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.6650+104G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 27/69 | chr1 | 12308745 | |||||||
| chr1:12308787 | G | C | 1 | a0014c0020t0023g0077 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.6650+146G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 27/69 | chr1 | 12308787 | |||||||
| chr1:12308878 | C | T | 1 | a0001c0009t0008g0017 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.6650+237C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 27/69 | chr1 | 12308878 | |||||||
| chr1:12309131 | T | A | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.6650+490T>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 27/69 | chr1 | 12309131 | |||||||
| chr1:12309212 | CT | C | 6 | a0001c0001t0001g0101 a0001c0001t0001g0108 a0001c0001t0001g0114 others(3): Show |
6 | HG01993.hp2 HG02083.hp1 HG02165.hp2 others(3): Show |
intron_variant | MODIFIER | c.6650+588delT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 27/69 | INFO_REALIGN_3_PRIME | chr1 | 12309212 | ||||||
| chr1:12309470 | G | A | 5 | a0001c0001t0001g0106 a0001c0001t0006g0130 a0001c0001t0006g0131 others(2): Show |
5 | HG01361.hp2 HG01928.hp2 HG01993.hp2 others(2): Show |
intron_variant | MODIFIER | c.6650+829G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 27/69 | chr1 | 12309470 | |||||||
| chr1:12309732 | A | G | 1 | a0001c0001t0001g0085 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.6650+1091A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 27/69 | chr1 | 12309732 | |||||||
| chr1:12309761 | C | CA | 59 | a0001c0001t0001g0037 a0001c0001t0002g0034 a0001c0001t0002g0042 others(56): Show |
59 | HG00408.hp2 HG00438.hp2 HG01106.hp1 others(56): Show |
intron_variant | MODIFIER | c.6650+1137dupA | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 27/69 | INFO_REALIGN_3_PRIME | chr1 | 12309761 | ||||||
| chr1:12309761 | CA | C | 8 | a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0004g0139 others(5): Show |
8 | HG01943.hp1 HG02004.hp2 HG02976.hp2 others(5): Show |
intron_variant | MODIFIER | c.6650+1137delA | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 27/69 | INFO_REALIGN_3_PRIME | chr1 | 12309761 | ||||||
| chr1:12309938 | T | G | 3 | a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0021g0122 |
3 | HG02572.hp1 HG03486.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.6650+1297T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 27/69 | chr1 | 12309938 | |||||||
| chr1:12310101 | C | A | 20 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(17): Show |
20 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(17): Show |
intron_variant | MODIFIER | c.6651-1353C>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 27/69 | chr1 | 12310101 | |||||||
| chr1:12310149 | A | G | 4 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 others(1): Show |
4 | HG02717.hp1 HG03195.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.6651-1305A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 27/69 | chr1 | 12310149 | |||||||
| chr1:12310235 | G | GCA | 9 | a0001c0009t0004g0018 a0001c0009t0008g0017 a0001c0009t0022g0076 others(6): Show |
9 | HG01255.hp2 HG02717.hp1 HG03195.hp2 others(6): Show |
intron_variant | MODIFIER | c.6651-1212_6651-121 others(6): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 27/69 | INFO_REALIGN_3_PRIME | chr1 | 12310235 | ||||||
| chr1:12310354 | T | C | 12 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(9): Show |
12 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.6651-1100T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 27/69 | chr1 | 12310354 | |||||||
| chr1:12310424 | A | G | 1 | a0001c0001t0001g0037 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.6651-1030A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 27/69 | chr1 | 12310424 | |||||||
| chr1:12310476 | A | G | 1 | a0001c0001t0011g0107 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.6651-978A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 27/69 | chr1 | 12310476 | |||||||
| chr1:12310769 | C | CTCCT | 8 | a0001c0003t0002g0055 a0001c0003t0002g0056 a0001c0006t0010g0003 others(5): Show |
8 | HG01243.hp1 HG01361.hp1 HG01928.hp1 others(5): Show |
intron_variant | MODIFIER | c.6651-661_6651-658d others(6): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 27/69 | INFO_REALIGN_3_PRIME | chr1 | 12310769 | ||||||
| chr1:12310793 | TTCCC | T | 7 | a0001c0009t0008g0017 a0001c0021t0013g0046 a0004c0030t0014g0143 others(4): Show |
7 | HG02717.hp1 HG03195.hp2 HG03486.hp1 others(4): Show |
intron_variant | MODIFIER | c.6651-637_6651-634d others(6): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 27/69 | INFO_REALIGN_3_PRIME | chr1 | 12310793 | ||||||
| chr1:12310797 | C | T | 12 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(9): Show |
12 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.6651-657C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 27/69 | chr1 | 12310797 | |||||||
| chr1:12310801 | C | T | 12 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(9): Show |
12 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.6651-653C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 27/69 | chr1 | 12310801 | |||||||
| chr1:12310805 | C | T | 12 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(9): Show |
12 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.6651-649C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 27/69 | chr1 | 12310805 | |||||||
| chr1:12310809 | C | T | 12 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(9): Show |
12 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.6651-645C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 27/69 | chr1 | 12310809 | |||||||
| chr1:12310813 | C | CTCCTTCC others(13): Show |
1 | a0001c0009t0022g0076 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.6651-638_6651-637i others(22): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 27/69 | INFO_REALIGN_3_PRIME | chr1 | 12310813 | ||||||
| chr1:12310813 | C | T | 11 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0013 others(8): Show |
11 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(8): Show |
intron_variant | MODIFIER | c.6651-641C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 27/69 | chr1 | 12310813 | |||||||
| chr1:12310817 | C | T | 3 | a0001c0006t0003g0004 a0001c0006t0003g0013 a0006c0025t0003g0005 |
3 | HG01099.hp2 HG01433.hp2 HG01993.hp1 |
intron_variant | MODIFIER | c.6651-637C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 27/69 | chr1 | 12310817 | |||||||
| chr1:12310821 | T | C | 9 | a0001c0001t0019g0102 a0001c0006t0003g0007 a0001c0006t0010g0003 others(6): Show |
9 | HG01071.hp2 HG01243.hp1 HG01346.hp2 others(6): Show |
intron_variant | MODIFIER | c.6651-633T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 27/69 | chr1 | 12310821 | |||||||
| chr1:12310824 | C | T | 1 | a0005c0010t0008g0071 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.6651-630C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 27/69 | chr1 | 12310824 | |||||||
| chr1:12310825 | C | T | 1 | a0001c0001t0020g0078 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.6651-629C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 27/69 | chr1 | 12310825 | |||||||
| chr1:12310829 | T | C | 12 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(9): Show |
12 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.6651-625T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 27/69 | chr1 | 12310829 | |||||||
| chr1:12310833 | T | C | 15 | a0001c0001t0001g0145 a0001c0001t0020g0078 a0001c0006t0003g0004 others(12): Show |
15 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(12): Show |
intron_variant | MODIFIER | c.6651-621T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 27/69 | chr1 | 12310833 | |||||||
| chr1:12310837 | T | C | 3 | a0001c0006t0003g0004 a0001c0006t0003g0013 a0006c0025t0003g0005 |
3 | HG01099.hp2 HG01433.hp2 HG01993.hp1 |
intron_variant | MODIFIER | c.6651-617T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 27/69 | chr1 | 12310837 | |||||||
| chr1:12310849 | C | T | 11 | a0001c0001t0001g0145 a0001c0001t0020g0078 a0001c0006t0003g0007 others(8): Show |
11 | HG01243.hp1 HG01346.hp2 HG01361.hp1 others(8): Show |
intron_variant | MODIFIER | c.6651-605C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 27/69 | chr1 | 12310849 | |||||||
| chr1:12310857 | T | C | 14 | a0001c0001t0001g0145 a0001c0001t0004g0148 a0001c0001t0020g0078 others(11): Show |
14 | HG00408.hp1 HG01243.hp1 HG01255.hp2 others(11): Show |
intron_variant | MODIFIER | c.6651-597T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 27/69 | chr1 | 12310857 | |||||||
| chr1:12310857 | T | TTCCTTCC others(1): Show |
21 | a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0097 others(18): Show |
21 | HG00438.hp1 HG01071.hp2 HG01109.hp2 others(18): Show |
intron_variant | MODIFIER | c.6651-545_6651-538d others(10): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 27/69 | INFO_REALIGN_3_PRIME | chr1 | 12310857 | ||||||
| chr1:12310857 | T | TTCCTTCC others(9): Show |
1 | a0001c0001t0001g0092 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.6651-553_6651-538d others(18): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 27/69 | INFO_REALIGN_3_PRIME | chr1 | 12310857 | ||||||
| chr1:12310857 | TTCCTTCC others(1): Show |
T | 7 | a0001c0001t0012g0119 a0001c0001t0012g0121 a0001c0001t0015g0069 others(4): Show |
7 | HG01106.hp1 HG01256.hp2 HG02004.hp1 others(4): Show |
intron_variant | MODIFIER | c.6651-545_6651-538d others(10): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 27/69 | INFO_REALIGN_3_PRIME | chr1 | 12310857 | ||||||
| chr1:12310873 | C | T | 9 | a0001c0006t0003g0007 a0001c0006t0003g0009 a0001c0006t0010g0003 others(6): Show |
9 | HG01243.hp1 HG01346.hp2 HG01361.hp1 others(6): Show |
intron_variant | MODIFIER | c.6651-581C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 27/69 | chr1 | 12310873 | |||||||
| chr1:12310881 | C | T | 3 | a0001c0006t0003g0004 a0001c0006t0003g0013 a0006c0025t0003g0005 |
3 | HG01099.hp2 HG01433.hp2 HG01993.hp1 |
intron_variant | MODIFIER | c.6651-573C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 27/69 | chr1 | 12310881 | |||||||
| chr1:12310909 | T | C | 65 | a0001c0001t0001g0037 a0001c0001t0002g0034 a0001c0001t0002g0038 others(62): Show |
65 | HG00408.hp2 HG00438.hp2 HG01106.hp1 others(62): Show |
intron_variant | MODIFIER | c.6651-545T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 27/69 | chr1 | 12310909 | |||||||
| chr1:12310912 | C | CCTCCCTC others(1): Show |
16 | a0001c0002t0007g0066 a0001c0006t0003g0004 a0001c0006t0003g0013 others(13): Show |
16 | HG01099.hp2 HG01109.hp1 HG01243.hp2 others(13): Show |
intron_variant | MODIFIER | c.6651-526_6651-519d others(10): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 27/69 | INFO_REALIGN_3_PRIME | chr1 | 12310912 | ||||||
| chr1:12310912 | C | T | 65 | a0001c0001t0001g0037 a0001c0001t0002g0034 a0001c0001t0002g0038 others(62): Show |
65 | HG00408.hp2 HG00438.hp2 HG01106.hp1 others(62): Show |
intron_variant | MODIFIER | c.6651-542C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 27/69 | chr1 | 12310912 | |||||||
| chr1:12311157 | C | A | 3 | a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0101 |
3 | NA18959.hp1 NA19068.hp2 NA19070.hp1 |
intron_variant | MODIFIER | c.6651-297C>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 27/69 | chr1 | 12311157 | |||||||
| chr1:12311225 | G | A | 1 | a0001c0001t0001g0116 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.6651-229G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 27/69 | chr1 | 12311225 | |||||||
| chr1:12311285 | A | G | 2 | a0001c0002t0002g0040 a0001c0002t0002g0041 |
2 | HG03491.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.6651-169A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 27/69 | chr1 | 12311285 | |||||||
| chr1:12311376 | C | G | 1 | a0001c0001t0001g0116 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.6651-78C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 27/69 | chr1 | 12311376 | |||||||
| chr1:12311389 | C | T | 1 | a0003c0007t0007g0151 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.6651-65C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 27/69 | chr1 | 12311389 | |||||||
| chr1:12311750 | G | A | 4 | a0001c0002t0002g0028 a0001c0009t0008g0017 a0001c0009t0022g0076 others(1): Show |
4 | HG01255.hp2 HG06807.hp1 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.6823-63G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 28/69 | chr1 | 12311750 | |||||||
| chr1:12312006 | G | A | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.6935+81G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 29/69 | chr1 | 12312006 | |||||||
| chr1:12312156 | G | A | 1 | a0001c0009t0008g0017 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.6935+231G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 29/69 | chr1 | 12312156 | |||||||
| chr1:12312225 | T | C | 20 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(17): Show |
20 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(17): Show |
intron_variant | MODIFIER | c.6935+300T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 29/69 | chr1 | 12312225 | |||||||
| chr1:12312274 | C | A | 20 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(17): Show |
20 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(17): Show |
intron_variant | MODIFIER | c.6935+349C>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 29/69 | chr1 | 12312274 | |||||||
| chr1:12312316 | G | A | 1 | a0001c0002t0009g0026 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.6935+391G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 29/69 | chr1 | 12312316 | |||||||
| chr1:12312540 | T | G | 84 | a0001c0001t0001g0037 a0001c0001t0002g0034 a0001c0001t0002g0038 others(81): Show |
84 | HG00408.hp2 HG00438.hp2 HG01099.hp2 others(81): Show |
intron_variant | MODIFIER | c.6935+615T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 29/69 | chr1 | 12312540 | |||||||
| chr1:12312619 | G | A | 4 | a0001c0001t0010g0120 a0001c0001t0012g0119 a0001c0001t0012g0121 others(1): Show |
4 | HG00408.hp1 HG01256.hp2 HG02004.hp1 others(1): Show |
intron_variant | MODIFIER | c.6935+694G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 29/69 | chr1 | 12312619 | |||||||
| chr1:12312755 | C | T | 3 | a0003c0007t0007g0151 a0003c0007t0007g0152 a0003c0007t0007g0153 |
3 | HG01884.hp1 HG02622.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.6935+830C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 29/69 | chr1 | 12312755 | |||||||
| chr1:12312948 | C | CAGTGTAA others(7): Show |
1 | a0001c0001t0001g0110 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.6935+1025_6935+103 others(18): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 29/69 | INFO_REALIGN_3_PRIME | chr1 | 12312948 | ||||||
| chr1:12313022 | A | G | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.6936-1093A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 29/69 | chr1 | 12313022 | |||||||
| chr1:12313291 | ATTC | A | 2 | a0001c0003t0001g0058 a0001c0003t0016g0063 |
2 | HG02965.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.6936-821_6936-819d others(5): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 29/69 | INFO_REALIGN_3_PRIME | chr1 | 12313291 | ||||||
| chr1:12313299 | C | CT | 18 | a0001c0001t0001g0022 a0001c0001t0001g0108 a0001c0001t0001g0134 others(15): Show |
18 | HG01243.hp2 HG01361.hp2 HG01433.hp1 others(15): Show |
intron_variant | MODIFIER | c.6936-790dupT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 29/69 | INFO_REALIGN_3_PRIME | chr1 | 12313299 | ||||||
| chr1:12313299 | CT | C | 8 | a0001c0001t0001g0114 a0001c0001t0002g0140 a0001c0002t0002g0029 others(5): Show |
8 | HG02165.hp2 HG02698.hp1 HG02735.hp2 others(5): Show |
intron_variant | MODIFIER | c.6936-790delT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 29/69 | INFO_REALIGN_3_PRIME | chr1 | 12313299 | ||||||
| chr1:12313440 | C | T | 4 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 others(1): Show |
4 | HG02717.hp1 HG03195.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.6936-675C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 29/69 | chr1 | 12313440 | |||||||
| chr1:12313545 | G | A | 4 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 others(1): Show |
4 | HG02717.hp1 HG03195.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.6936-570G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 29/69 | chr1 | 12313545 | |||||||
| chr1:12313771 | T | C | 1 | a0001c0002t0008g0044 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.6936-344T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 29/69 | chr1 | 12313771 | |||||||
| chr1:12313961 | T | C | 1 | a0001c0002t0002g0045 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.6936-154T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 29/69 | chr1 | 12313961 | |||||||
| chr1:12314005 | A | T | 49 | a0001c0001t0001g0037 a0001c0001t0002g0034 a0001c0001t0002g0038 others(46): Show |
49 | HG00408.hp2 HG00438.hp2 HG01106.hp1 others(46): Show |
intron_variant | MODIFIER | c.6936-110A>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 29/69 | chr1 | 12314005 | |||||||
| chr1:12314020 | A | G | 1 | a0001c0003t0002g0061 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.6936-95A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 29/69 | chr1 | 12314020 | |||||||
| chr1:12315529 | A | G | 1 | a0001c0001t0020g0078 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.7148+1202A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 30/69 | chr1 | 12315529 | |||||||
| chr1:12315549 | C | T | 1 | a0003c0007t0007g0154 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.7148+1222C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 30/69 | chr1 | 12315549 | |||||||
| chr1:12315725 | A | G | 49 | a0001c0001t0001g0037 a0001c0001t0002g0034 a0001c0001t0002g0038 others(46): Show |
49 | HG00408.hp2 HG00438.hp2 HG01106.hp1 others(46): Show |
intron_variant | MODIFIER | c.7148+1398A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 30/69 | chr1 | 12315725 | |||||||
| chr1:12315839 | C | T | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.7148+1512C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 30/69 | chr1 | 12315839 | |||||||
| chr1:12315879 | C | T | 12 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(9): Show |
12 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.7148+1552C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 30/69 | chr1 | 12315879 | |||||||
| chr1:12315880 | G | T | 3 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 |
3 | HG02717.hp1 HG03195.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.7148+1553G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 30/69 | chr1 | 12315880 | |||||||
| chr1:12315902 | C | T | 61 | a0001c0001t0001g0037 a0001c0001t0002g0034 a0001c0001t0002g0038 others(58): Show |
61 | HG00408.hp2 HG00438.hp2 HG01106.hp1 others(58): Show |
intron_variant | MODIFIER | c.7148+1575C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 30/69 | chr1 | 12315902 | |||||||
| chr1:12316346 | G | A | 1 | a0001c0006t0010g0003 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.7149-1726G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 30/69 | chr1 | 12316346 | |||||||
| chr1:12316348 | C | T | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.7149-1724C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 30/69 | chr1 | 12316348 | |||||||
| chr1:12316353 | G | T | 1 | a0001c0002t0001g0099 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.7149-1719G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 30/69 | chr1 | 12316353 | |||||||
| chr1:12316519 | A | G | 1 | a0001c0005t0001g0132 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.7149-1553A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 30/69 | chr1 | 12316519 | |||||||
| chr1:12316573 | T | C | 3 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 |
3 | HG02717.hp1 HG03195.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.7149-1499T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 30/69 | chr1 | 12316573 | |||||||
| chr1:12316574 | G | T | 3 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 |
3 | HG02717.hp1 HG03195.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.7149-1498G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 30/69 | chr1 | 12316574 | |||||||
| chr1:12316722 | T | G | 21 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(18): Show |
21 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(18): Show |
intron_variant | MODIFIER | c.7149-1350T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 30/69 | chr1 | 12316722 | |||||||
| chr1:12317399 | G | T | 4 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 others(1): Show |
4 | HG02717.hp1 HG03195.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.7149-673G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 30/69 | chr1 | 12317399 | |||||||
| chr1:12317448 | G | A | 1 | a0001c0003t0002g0061 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.7149-624G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 30/69 | chr1 | 12317448 | |||||||
| chr1:12317524 | C | T | 1 | a0001c0001t0004g0148 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.7149-548C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 30/69 | chr1 | 12317524 | |||||||
| chr1:12317586 | A | T | 3 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0009c0022t0002g0033 |
3 | HG02056.hp1 HG02735.hp1 NA18968.hp2 |
intron_variant | MODIFIER | c.7149-486A>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 30/69 | chr1 | 12317586 | |||||||
| chr1:12317650 | C | T | 2 | a0001c0001t0001g0037 a0011c0023t0002g0036 |
2 | HG02965.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.7149-422C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 30/69 | chr1 | 12317650 | |||||||
| chr1:12317700 | G | T | 2 | a0001c0009t0004g0018 a0001c0009t0008g0017 |
2 | HG03579.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.7149-372G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 30/69 | chr1 | 12317700 | |||||||
| chr1:12318000 | G | A | 11 | a0001c0003t0002g0055 a0001c0003t0002g0056 a0001c0003t0005g0048 others(8): Show |
11 | HG01256.hp1 HG01346.hp1 HG02273.hp1 others(8): Show |
intron_variant | MODIFIER | c.7149-72G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 30/69 | chr1 | 12318000 | |||||||
| chr1:12318403 | A | G | 2 | a0001c0009t0004g0018 a0001c0009t0008g0017 |
2 | HG03579.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.7414+66A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 31/69 | chr1 | 12318403 | |||||||
| chr1:12318591 | G | A | 12 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(9): Show |
12 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.7414+254G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 31/69 | chr1 | 12318591 | |||||||
| chr1:12318679 | G | C | 1 | a0001c0001t0004g0136 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.7414+342G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 31/69 | chr1 | 12318679 | |||||||
| chr1:12318695 | C | T | 1 | a0001c0001t0001g0134 | 1 | NA19001.hp2 | intron_variant | MODIFIER | c.7414+358C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 31/69 | chr1 | 12318695 | |||||||
| chr1:12318755 | A | G | 4 | a0001c0006t0003g0009 a0001c0006t0010g0003 a0001c0006t0010g0010 others(1): Show |
4 | HG02132.hp2 HG02698.hp1 HG04204.hp2 others(1): Show |
intron_variant | MODIFIER | c.7414+418A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 31/69 | chr1 | 12318755 | |||||||
| chr1:12319113 | T | C | 1 | a0001c0001t0002g0043 | 1 | NA18959.hp2 | intron_variant | MODIFIER | c.7415-384T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 31/69 | chr1 | 12319113 | |||||||
| chr1:12319304 | C | T | 1 | a0001c0001t0001g0104 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.7415-193C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 31/69 | chr1 | 12319304 | |||||||
| chr1:12319732 | A | C | 21 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(18): Show |
21 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(18): Show |
intron_variant | MODIFIER | c.7548+102A>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 32/69 | chr1 | 12319732 | |||||||
| chr1:12319757 | C | G | 4 | a0001c0009t0004g0018 a0001c0009t0008g0017 a0001c0009t0022g0076 others(1): Show |
4 | HG01255.hp2 HG03579.hp1 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.7548+127C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 32/69 | chr1 | 12319757 | |||||||
| chr1:12319831 | A | G | 4 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 others(1): Show |
4 | HG02717.hp1 HG03195.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.7548+201A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 32/69 | chr1 | 12319831 | |||||||
| chr1:12319924 | G | A | 11 | a0002c0004t0001g0081 a0002c0004t0001g0090 a0002c0004t0001g0094 others(8): Show |
11 | HG01071.hp1 HG01099.hp1 HG02056.hp2 others(8): Show |
intron_variant | MODIFIER | c.7548+294G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 32/69 | chr1 | 12319924 | |||||||
| chr1:12320195 | A | G | 1 | a0008c0026t0006g0128 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.7548+565A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 32/69 | chr1 | 12320195 | |||||||
| chr1:12320196 | T | A | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.7548+566T>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 32/69 | chr1 | 12320196 | |||||||
| chr1:12320286 | C | A | 4 | a0001c0001t0010g0120 a0001c0001t0012g0119 a0001c0001t0012g0121 others(1): Show |
4 | HG00408.hp1 HG01256.hp2 HG02004.hp1 others(1): Show |
intron_variant | MODIFIER | c.7548+656C>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 32/69 | chr1 | 12320286 | |||||||
| chr1:12320292 | G | T | 1 | a0001c0009t0022g0076 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.7548+662G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 32/69 | chr1 | 12320292 | |||||||
| chr1:12320304 | G | A | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.7548+674G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 32/69 | chr1 | 12320304 | |||||||
| chr1:12320381 | C | T | 148 | a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 others(145): Show |
148 | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(145): Show |
intron_variant | MODIFIER | c.7548+751C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 32/69 | chr1 | 12320381 | |||||||
| chr1:12320461 | C | A | 1 | a0011c0023t0002g0036 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.7548+831C>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 32/69 | chr1 | 12320461 | |||||||
| chr1:12320478 | A | C | 1 | a0005c0010t0008g0070 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.7548+848A>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 32/69 | chr1 | 12320478 | |||||||
| chr1:12320683 | G | T | 12 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(9): Show |
12 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.7548+1053G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 32/69 | chr1 | 12320683 | |||||||
| chr1:12320768 | G | C | 12 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(9): Show |
12 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.7549-1041G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 32/69 | chr1 | 12320768 | |||||||
| chr1:12320774 | T | C | 1 | a0001c0001t0001g0087 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.7549-1035T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 32/69 | chr1 | 12320774 | |||||||
| chr1:12321046 | T | C | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.7549-763T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 32/69 | chr1 | 12321046 | |||||||
| chr1:12321222 | T | C | 1 | a0009c0022t0002g0033 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.7549-587T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 32/69 | chr1 | 12321222 | |||||||
| chr1:12321248 | G | A | 1 | a0016c0018t0001g0080 | 1 | NA18968.hp1 | intron_variant | MODIFIER | c.7549-561G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 32/69 | chr1 | 12321248 | |||||||
| chr1:12321294 | A | G | 2 | a0001c0001t0002g0034 a0009c0022t0002g0033 |
2 | HG02056.hp1 NA18968.hp2 |
intron_variant | MODIFIER | c.7549-515A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 32/69 | chr1 | 12321294 | |||||||
| chr1:12321653 | G | A | 3 | a0001c0009t0008g0017 a0001c0009t0022g0076 a0014c0020t0023g0077 |
3 | HG01255.hp2 HG06807.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.7549-156G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 32/69 | chr1 | 12321653 | |||||||
| chr1:12321739 | C | T | 12 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(9): Show |
12 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.7549-70C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 32/69 | chr1 | 12321739 | |||||||
| chr1:12322129 | G | A | 1 | a0001c0001t0001g0092 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.7704+165G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 33/69 | chr1 | 12322129 | |||||||
| chr1:12322267 | C | T | 2 | a0001c0011t0011g0016 a0001c0011t0018g0015 |
2 | HG02895.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.7705-269C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 33/69 | chr1 | 12322267 | |||||||
| chr1:12322296 | C | G | 82 | a0001c0001t0001g0037 a0001c0001t0002g0034 a0001c0001t0002g0038 others(79): Show |
82 | HG00408.hp2 HG00438.hp2 HG01099.hp2 others(79): Show |
intron_variant | MODIFIER | c.7705-240C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 33/69 | chr1 | 12322296 | |||||||
| chr1:12322470 | G | A | 1 | a0018c0015t0024g0001 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.7705-66G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 33/69 | chr1 | 12322470 | |||||||
| chr1:12322968 | CAG | C | 2 | a0001c0009t0008g0017 a0001c0009t0022g0076 |
2 | HG01255.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.7915+225_7915+226d others(4): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 34/69 | INFO_REALIGN_3_PRIME | chr1 | 12322968 | ||||||
| chr1:12323088 | T | G | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.7915+342T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 34/69 | chr1 | 12323088 | |||||||
| chr1:12323150 | G | A | 3 | a0001c0002t0007g0066 a0001c0012t0002g0074 a0001c0012t0008g0067 |
3 | HG01243.hp2 HG02622.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.7915+404G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 34/69 | chr1 | 12323150 | |||||||
| chr1:12323193 | C | T | 5 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 others(2): Show |
5 | HG02717.hp1 HG03195.hp2 HG03486.hp1 others(2): Show |
intron_variant | MODIFIER | c.7915+447C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 34/69 | chr1 | 12323193 | |||||||
| chr1:12323203 | G | T | 1 | a0001c0009t0008g0017 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.7915+457G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 34/69 | chr1 | 12323203 | |||||||
| chr1:12323331 | C | G | 1 | a0001c0001t0015g0069 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.7916-375C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 34/69 | chr1 | 12323331 | |||||||
| chr1:12323465 | C | T | 1 | a0014c0020t0023g0077 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.7916-241C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 34/69 | chr1 | 12323465 | |||||||
| chr1:12323472 | C | A | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.7916-234C>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 34/69 | chr1 | 12323472 | |||||||
| chr1:12323611 | G | A | 1 | a0001c0002t0002g0045 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.7916-95G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 34/69 | chr1 | 12323611 | |||||||
| chr1:12324244 | A | T | 3 | a0001c0002t0007g0066 a0001c0012t0002g0074 a0001c0012t0008g0067 |
3 | HG01243.hp2 HG02622.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.7990+464A>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 35/69 | chr1 | 12324244 | |||||||
| chr1:12324249 | T | C | 2 | a0001c0011t0011g0016 a0001c0011t0018g0015 |
2 | HG02895.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.7990+469T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 35/69 | chr1 | 12324249 | |||||||
| chr1:12324315 | T | C | 1 | a0001c0003t0001g0058 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.7990+535T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 35/69 | chr1 | 12324315 | |||||||
| chr1:12324395 | T | C | 1 | a0001c0003t0016g0063 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.7990+615T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 35/69 | chr1 | 12324395 | |||||||
| chr1:12324418 | C | T | 2 | a0001c0009t0004g0018 a0001c0009t0008g0017 |
2 | HG03579.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.7990+638C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 35/69 | chr1 | 12324418 | |||||||
| chr1:12324520 | T | C | 1 | a0003c0007t0007g0150 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.7990+740T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 35/69 | chr1 | 12324520 | |||||||
| chr1:12324673 | C | T | 8 | a0001c0009t0004g0018 a0001c0009t0008g0017 a0001c0009t0022g0076 others(5): Show |
8 | HG01255.hp2 HG02717.hp1 HG03195.hp2 others(5): Show |
intron_variant | MODIFIER | c.7990+893C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 35/69 | chr1 | 12324673 | |||||||
| chr1:12324826 | T | C | 1 | a0010c0017t0001g0083 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.7990+1046T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 35/69 | chr1 | 12324826 | |||||||
| chr1:12325107 | A | T | 4 | a0001c0009t0004g0018 a0001c0009t0008g0017 a0001c0009t0022g0076 others(1): Show |
4 | HG01255.hp2 HG03579.hp1 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.7990+1327A>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 35/69 | chr1 | 12325107 | |||||||
| chr1:12325153 | C | T | 2 | a0001c0009t0004g0018 a0001c0009t0008g0017 |
2 | HG03579.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.7990+1373C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 35/69 | chr1 | 12325153 | |||||||
| chr1:12325323 | G | T | 1 | a0001c0009t0022g0076 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.7990+1543G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 35/69 | chr1 | 12325323 | |||||||
| chr1:12325344 | C | T | 1 | a0001c0001t0001g0037 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.7990+1564C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 35/69 | chr1 | 12325344 | |||||||
| chr1:12325509 | T | C | 21 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(18): Show |
21 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(18): Show |
intron_variant | MODIFIER | c.7990+1729T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 35/69 | chr1 | 12325509 | |||||||
| chr1:12325976 | C | CT | 60 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(57): Show |
60 | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(57): Show |
intron_variant | MODIFIER | c.7991-1659dupT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 35/69 | INFO_REALIGN_3_PRIME | chr1 | 12325976 | ||||||
| chr1:12325976 | C | CTT | 22 | a0001c0001t0001g0037 a0001c0006t0003g0004 a0001c0006t0003g0007 others(19): Show |
22 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(19): Show |
intron_variant | MODIFIER | c.7991-1660_7991-165 others(6): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 35/69 | INFO_REALIGN_3_PRIME | chr1 | 12325976 | ||||||
| chr1:12326003 | T | A | 3 | a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0021t0013g0046 |
3 | HG03017.hp2 HG03491.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.7991-1645T>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 35/69 | chr1 | 12326003 | |||||||
| chr1:12326029 | C | T | 1 | a0004c0031t0014g0142 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.7991-1619C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 35/69 | chr1 | 12326029 | |||||||
| chr1:12326280 | C | CT | 79 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(76): Show |
79 | HG00408.hp2 HG01099.hp2 HG01106.hp1 others(76): Show |
intron_variant | MODIFIER | c.7991-1353dupT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 35/69 | INFO_REALIGN_3_PRIME | chr1 | 12326280 | ||||||
| chr1:12326321 | A | AT | 6 | a0001c0001t0001g0087 a0001c0003t0005g0053 a0001c0009t0004g0018 others(3): Show |
6 | HG01256.hp1 HG03540.hp2 HG03579.hp1 others(3): Show |
intron_variant | MODIFIER | c.7991-1306dupT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 35/69 | INFO_REALIGN_3_PRIME | chr1 | 12326321 | ||||||
| chr1:12326321 | A | ATT | 17 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(14): Show |
17 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(14): Show |
intron_variant | MODIFIER | c.7991-1307_7991-130 others(6): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 35/69 | INFO_REALIGN_3_PRIME | chr1 | 12326321 | ||||||
| chr1:12326321 | AT | A | 26 | a0001c0001t0001g0112 a0001c0001t0002g0034 a0001c0001t0002g0038 others(23): Show |
26 | HG00408.hp2 HG00438.hp2 HG01106.hp1 others(23): Show |
intron_variant | MODIFIER | c.7991-1306delT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 35/69 | INFO_REALIGN_3_PRIME | chr1 | 12326321 | ||||||
| chr1:12326485 | C | T | 1 | a0001c0003t0005g0051 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.7991-1163C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 35/69 | chr1 | 12326485 | |||||||
| chr1:12326496 | G | A | 62 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(59): Show |
62 | HG00408.hp2 HG00438.hp2 HG01106.hp1 others(59): Show |
intron_variant | MODIFIER | c.7991-1152G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 35/69 | chr1 | 12326496 | |||||||
| chr1:12326527 | G | A | 2 | a0001c0011t0011g0016 a0001c0011t0018g0015 |
2 | HG02895.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.7991-1121G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 35/69 | chr1 | 12326527 | |||||||
| chr1:12326646 | A | AT | 5 | a0001c0002t0009g0025 a0001c0009t0022g0076 a0002c0004t0001g0133 others(2): Show |
5 | HG01255.hp2 HG02071.hp1 HG06807.hp2 others(2): Show |
intron_variant | MODIFIER | c.7991-988dupT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 35/69 | INFO_REALIGN_3_PRIME | chr1 | 12326646 | ||||||
| chr1:12326646 | AT | A | 12 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(9): Show |
12 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.7991-988delT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 35/69 | INFO_REALIGN_3_PRIME | chr1 | 12326646 | ||||||
| chr1:12326778 | G | A | 3 | a0002c0004t0001g0081 a0002c0004t0001g0133 a0002c0004t0025g0118 |
3 | NA18943.hp1 NA18947.hp2 NA19000.hp1 |
intron_variant | MODIFIER | c.7991-870G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 35/69 | chr1 | 12326778 | |||||||
| chr1:12326820 | T | G | 2 | a0002c0004t0001g0094 a0002c0004t0001g0095 |
2 | HG01071.hp1 HG01099.hp1 |
intron_variant | MODIFIER | c.7991-828T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 35/69 | chr1 | 12326820 | |||||||
| chr1:12326833 | C | T | 1 | a0001c0008t0003g0002 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.7991-815C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 35/69 | chr1 | 12326833 | |||||||
| chr1:12327007 | C | CCT | 2 | a0001c0009t0022g0076 a0014c0020t0023g0077 |
2 | HG01255.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.7991-641_7991-640i others(4): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 35/69 | chr1 | 12327007 | |||||||
| chr1:12327014 | G | T | 81 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(78): Show |
81 | HG00408.hp2 HG00438.hp2 HG01099.hp2 others(78): Show |
intron_variant | MODIFIER | c.7991-634G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 35/69 | chr1 | 12327014 | |||||||
| chr1:12327489 | C | T | 4 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 others(1): Show |
4 | HG02717.hp1 HG03195.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.7991-159C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 35/69 | chr1 | 12327489 | |||||||
| chr1:12327888 | A | G | 1 | a0002c0004t0001g0096 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.8197+34A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 36/69 | chr1 | 12327888 | |||||||
| chr1:12327921 | C | CT | 5 | a0001c0006t0003g0009 a0001c0009t0004g0018 a0001c0009t0008g0017 others(2): Show |
5 | HG01255.hp2 HG03579.hp1 HG06807.hp1 others(2): Show |
intron_variant | MODIFIER | c.8197+78dupT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 36/69 | INFO_REALIGN_3_PRIME | chr1 | 12327921 | ||||||
| chr1:12328043 | G | C | 3 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 |
3 | HG02717.hp1 HG03195.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.8197+189G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 36/69 | chr1 | 12328043 | |||||||
| chr1:12328056 | G | A | 4 | a0001c0009t0004g0018 a0001c0009t0008g0017 a0001c0009t0022g0076 others(1): Show |
4 | HG01255.hp2 HG03579.hp1 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.8197+202G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 36/69 | chr1 | 12328056 | |||||||
| chr1:12328359 | C | CT | 28 | a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 others(25): Show |
28 | HG00438.hp1 HG01071.hp1 HG01071.hp2 others(25): Show |
intron_variant | MODIFIER | c.8197+523dupT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 36/69 | INFO_REALIGN_3_PRIME | chr1 | 12328359 | ||||||
| chr1:12328359 | CT | C | 13 | a0001c0002t0007g0066 a0001c0003t0001g0058 a0001c0011t0011g0016 others(10): Show |
13 | HG01109.hp1 HG01243.hp2 HG01884.hp1 others(10): Show |
intron_variant | MODIFIER | c.8197+523delT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 36/69 | INFO_REALIGN_3_PRIME | chr1 | 12328359 | ||||||
| chr1:12328545 | C | CT | 21 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(18): Show |
21 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(18): Show |
intron_variant | MODIFIER | c.8197+701dupT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 36/69 | INFO_REALIGN_3_PRIME | chr1 | 12328545 | ||||||
| chr1:12328674 | G | A | 1 | a0018c0015t0024g0001 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.8197+820G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 36/69 | chr1 | 12328674 | |||||||
| chr1:12328830 | C | T | 1 | a0002c0004t0001g0095 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.8197+976C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 36/69 | chr1 | 12328830 | |||||||
| chr1:12329175 | C | T | 1 | a0001c0001t0001g0084 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.8198-654C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 36/69 | chr1 | 12329175 | |||||||
| chr1:12329256 | C | T | 1 | a0001c0009t0022g0076 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.8198-573C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 36/69 | chr1 | 12329256 | |||||||
| chr1:12329311 | C | T | 21 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(18): Show |
21 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(18): Show |
intron_variant | MODIFIER | c.8198-518C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 36/69 | chr1 | 12329311 | |||||||
| chr1:12329375 | A | G | 83 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(80): Show |
83 | HG00408.hp2 HG00438.hp2 HG01099.hp2 others(80): Show |
intron_variant | MODIFIER | c.8198-454A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 36/69 | chr1 | 12329375 | |||||||
| chr1:12329464 | G | A | 8 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0013 others(5): Show |
8 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(5): Show |
intron_variant | MODIFIER | c.8198-365G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 36/69 | chr1 | 12329464 | |||||||
| chr1:12329999 | A | G | 1 | a0014c0020t0023g0077 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.8287+81A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 37/69 | chr1 | 12329999 | |||||||
| chr1:12330102 | T | C | 4 | a0001c0009t0004g0018 a0001c0009t0008g0017 a0001c0009t0022g0076 others(1): Show |
4 | HG01255.hp2 HG03579.hp1 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.8287+184T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 37/69 | chr1 | 12330102 | |||||||
| chr1:12330141 | G | T | 12 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(9): Show |
12 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.8287+223G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 37/69 | chr1 | 12330141 | |||||||
| chr1:12330474 | C | G | 1 | a0007c0029t0011g0144 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.8287+556C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 37/69 | chr1 | 12330474 | |||||||
| chr1:12330613 | G | T | 23 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(20): Show |
23 | HG00408.hp2 HG00438.hp2 HG02056.hp1 others(20): Show |
intron_variant | MODIFIER | c.8287+695G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 37/69 | chr1 | 12330613 | |||||||
| chr1:12330667 | A | G | 1 | a0001c0014t0012g0075 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.8287+749A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 37/69 | chr1 | 12330667 | |||||||
| chr1:12330944 | C | G | 4 | a0001c0009t0004g0018 a0001c0009t0008g0017 a0001c0009t0022g0076 others(1): Show |
4 | HG01255.hp2 HG03579.hp1 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.8287+1026C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 37/69 | chr1 | 12330944 | |||||||
| chr1:12330993 | C | T | 1 | a0001c0003t0005g0050 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.8287+1075C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 37/69 | chr1 | 12330993 | |||||||
| chr1:12331414 | T | C | 4 | a0001c0009t0004g0018 a0001c0009t0008g0017 a0001c0009t0022g0076 others(1): Show |
4 | HG01255.hp2 HG03579.hp1 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.8287+1496T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 37/69 | chr1 | 12331414 | |||||||
| chr1:12331604 | C | T | 12 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(9): Show |
12 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.8288-1622C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 37/69 | chr1 | 12331604 | |||||||
| chr1:12331711 | T | TA | 23 | a0001c0001t0001g0123 a0001c0001t0004g0126 a0001c0001t0006g0130 others(20): Show |
23 | HG00408.hp1 HG01099.hp2 HG01255.hp2 others(20): Show |
intron_variant | MODIFIER | c.8288-1491dupA | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 37/69 | INFO_REALIGN_3_PRIME | chr1 | 12331711 | ||||||
| chr1:12331896 | T | C | 21 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(18): Show |
21 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(18): Show |
intron_variant | MODIFIER | c.8288-1330T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 37/69 | chr1 | 12331896 | |||||||
| chr1:12332422 | A | G | 1 | a0011c0023t0002g0036 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.8288-804A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 37/69 | chr1 | 12332422 | |||||||
| chr1:12332546 | T | A | 1 | a0001c0001t0009g0027 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.8288-680T>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 37/69 | chr1 | 12332546 | |||||||
| chr1:12332730 | T | C | 3 | a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0021g0122 |
3 | HG02572.hp1 HG03486.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.8288-496T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 37/69 | chr1 | 12332730 | |||||||
| chr1:12332763 | G | A | 1 | a0001c0001t0002g0043 | 1 | NA18959.hp2 | intron_variant | MODIFIER | c.8288-463G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 37/69 | chr1 | 12332763 | |||||||
| chr1:12332948 | T | C | 8 | a0001c0009t0004g0018 a0001c0009t0008g0017 a0001c0009t0022g0076 others(5): Show |
8 | HG01255.hp2 HG02717.hp1 HG03195.hp2 others(5): Show |
intron_variant | MODIFIER | c.8288-278T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 37/69 | chr1 | 12332948 | |||||||
| chr1:12333405 | C | T | 3 | a0001c0001t0015g0069 a0001c0002t0004g0047 a0001c0002t0015g0057 |
3 | HG01106.hp1 HG03098.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.8428+39C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 38/69 | chr1 | 12333405 | |||||||
| chr1:12333544 | C | T | 1 | a0018c0015t0024g0001 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.8428+178C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 38/69 | chr1 | 12333544 | |||||||
| chr1:12333638 | G | T | 1 | a0001c0006t0003g0004 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.8428+272G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 38/69 | chr1 | 12333638 | |||||||
| chr1:12333753 | A | G | 1 | a0014c0020t0023g0077 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.8428+387A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 38/69 | chr1 | 12333753 | |||||||
| chr1:12334328 | TCTCACAA others(9): Show |
T | 2 | a0001c0003t0001g0058 a0001c0003t0016g0063 |
2 | HG02965.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.8428+982_8428+997d others(18): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 38/69 | INFO_REALIGN_3_PRIME | chr1 | 12334328 | ||||||
| chr1:12334347 | C | T | 1 | a0001c0005t0002g0068 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.8428+981C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 38/69 | chr1 | 12334347 | |||||||
| chr1:12334637 | T | C | 21 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(18): Show |
21 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(18): Show |
intron_variant | MODIFIER | c.8429-1068T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 38/69 | chr1 | 12334637 | |||||||
| chr1:12334802 | T | C | 1 | a0014c0020t0023g0077 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.8429-903T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 38/69 | chr1 | 12334802 | |||||||
| chr1:12334828 | GT | G | 20 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0013 others(17): Show |
20 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(17): Show |
intron_variant | MODIFIER | c.8429-870delT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 38/69 | INFO_REALIGN_3_PRIME | chr1 | 12334828 | ||||||
| chr1:12335082 | T | C | 2 | a0001c0009t0004g0018 a0001c0009t0008g0017 |
2 | HG03579.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.8429-623T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 38/69 | chr1 | 12335082 | |||||||
| chr1:12335356 | C | T | 48 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(45): Show |
48 | HG00408.hp2 HG00438.hp2 HG01106.hp1 others(45): Show |
intron_variant | MODIFIER | c.8429-349C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 38/69 | chr1 | 12335356 | |||||||
| chr1:12335566 | T | C | 83 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(80): Show |
83 | HG00408.hp2 HG00438.hp2 HG01099.hp2 others(80): Show |
intron_variant | MODIFIER | c.8429-139T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 38/69 | chr1 | 12335566 | |||||||
| chr1:12335657 | C | T | 1 | a0001c0005t0004g0111 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.8429-48C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 38/69 | chr1 | 12335657 | |||||||
| chr1:12336070 | C | T | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.8551+243C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 39/69 | chr1 | 12336070 | |||||||
| chr1:12336295 | A | G | 1 | a0002c0004t0001g0081 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.8551+468A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 39/69 | chr1 | 12336295 | |||||||
| chr1:12336355 | A | G | 3 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0009c0022t0002g0033 |
3 | HG02056.hp1 HG02735.hp1 NA18968.hp2 |
intron_variant | MODIFIER | c.8551+528A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 39/69 | chr1 | 12336355 | |||||||
| chr1:12336648 | A | C | 23 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(20): Show |
23 | HG00408.hp2 HG00438.hp2 HG02056.hp1 others(20): Show |
intron_variant | MODIFIER | c.8551+821A>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 39/69 | chr1 | 12336648 | |||||||
| chr1:12336939 | A | C | 1 | a0001c0008t0003g0079 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.8551+1112A>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 39/69 | chr1 | 12336939 | |||||||
| chr1:12337071 | A | G | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.8552-1160A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 39/69 | chr1 | 12337071 | |||||||
| chr1:12337106 | G | C | 1 | a0001c0009t0008g0017 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.8552-1125G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 39/69 | chr1 | 12337106 | |||||||
| chr1:12337902 | A | G | 1 | a0001c0001t0021g0122 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.8552-329A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 39/69 | chr1 | 12337902 | |||||||
| chr1:12337911 | C | T | 1 | a0001c0008t0003g0002 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.8552-320C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 39/69 | chr1 | 12337911 | |||||||
| chr1:12337960 | A | G | 1 | a0001c0003t0005g0053 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.8552-271A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 39/69 | chr1 | 12337960 | |||||||
| chr1:12337988 | G | GA | 16 | a0001c0001t0004g0136 a0001c0001t0012g0119 a0001c0002t0002g0039 others(13): Show |
16 | HG01099.hp2 HG01243.hp1 HG01256.hp2 others(13): Show |
intron_variant | MODIFIER | c.8552-228dupA | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 39/69 | INFO_REALIGN_3_PRIME | chr1 | 12337988 | ||||||
| chr1:12337988 | GA | G | 5 | a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 others(2): Show |
5 | HG01433.hp1 HG01891.hp1 HG02083.hp2 others(2): Show |
intron_variant | MODIFIER | c.8552-228delA | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 39/69 | INFO_REALIGN_3_PRIME | chr1 | 12337988 | ||||||
| chr1:12338356 | T | G | 21 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(18): Show |
21 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(18): Show |
intron_variant | MODIFIER | c.8626+51T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 40/69 | chr1 | 12338356 | |||||||
| chr1:12338547 | A | G | 3 | a0001c0002t0007g0066 a0001c0012t0002g0074 a0001c0012t0008g0067 |
3 | HG01243.hp2 HG02622.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.8626+242A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 40/69 | chr1 | 12338547 | |||||||
| chr1:12338628 | C | T | 1 | a0018c0015t0024g0001 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.8626+323C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 40/69 | chr1 | 12338628 | |||||||
| chr1:12339100 | GT | G | 21 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(18): Show |
21 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(18): Show |
intron_variant | MODIFIER | c.8626+805delT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 40/69 | INFO_REALIGN_3_PRIME | chr1 | 12339100 | ||||||
| chr1:12339118 | A | G | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.8626+813A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 40/69 | chr1 | 12339118 | |||||||
| chr1:12339225 | C | T | 1 | a0014c0020t0023g0077 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.8626+920C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 40/69 | chr1 | 12339225 | |||||||
| chr1:12339294 | A | G | 12 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(9): Show |
12 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.8626+989A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 40/69 | chr1 | 12339294 | |||||||
| chr1:12339342 | T | C | 1 | a0001c0001t0001g0019 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.8626+1037T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 40/69 | chr1 | 12339342 | |||||||
| chr1:12339922 | T | C | 2 | a0001c0012t0002g0074 a0001c0012t0008g0067 |
2 | HG01243.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.8626+1617T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 40/69 | chr1 | 12339922 | |||||||
| chr1:12340011 | A | G | 1 | a0001c0014t0012g0075 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.8626+1706A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 40/69 | chr1 | 12340011 | |||||||
| chr1:12340522 | T | C | 4 | a0001c0009t0004g0018 a0001c0009t0008g0017 a0001c0009t0022g0076 others(1): Show |
4 | HG01255.hp2 HG03579.hp1 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.8627-1258T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 40/69 | chr1 | 12340522 | |||||||
| chr1:12340642 | C | G | 1 | a0001c0001t0004g0082 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.8627-1138C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 40/69 | chr1 | 12340642 | |||||||
| chr1:12341141 | T | C | 2 | a0001c0011t0011g0016 a0001c0011t0018g0015 |
2 | HG02895.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.8627-639T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 40/69 | chr1 | 12341141 | |||||||
| chr1:12341169 | C | G | 4 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 others(1): Show |
4 | HG02717.hp1 HG03195.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.8627-611C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 40/69 | chr1 | 12341169 | |||||||
| chr1:12342057 | A | G | 1 | a0001c0001t0001g0124 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.8732+172A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 41/69 | chr1 | 12342057 | |||||||
| chr1:12342218 | G | T | 56 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(53): Show |
56 | HG00408.hp2 HG00438.hp2 HG01106.hp1 others(53): Show |
intron_variant | MODIFIER | c.8732+333G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 41/69 | chr1 | 12342218 | |||||||
| chr1:12342313 | A | G | 1 | a0001c0002t0009g0026 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.8732+428A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 41/69 | chr1 | 12342313 | |||||||
| chr1:12342474 | A | C | 2 | a0001c0003t0002g0055 a0001c0003t0002g0056 |
2 | NA18951.hp1 NA19070.hp2 |
intron_variant | MODIFIER | c.8733-425A>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 41/69 | chr1 | 12342474 | |||||||
| chr1:12343129 | C | G | 12 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(9): Show |
12 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.8885+78C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 42/69 | chr1 | 12343129 | |||||||
| chr1:12343511 | C | T | 1 | a0018c0015t0024g0001 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.8885+460C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 42/69 | chr1 | 12343511 | |||||||
| chr1:12343589 | G | A | 12 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(9): Show |
12 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.8885+538G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 42/69 | chr1 | 12343589 | |||||||
| chr1:12343626 | C | T | 1 | a0001c0001t0019g0102 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.8885+575C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 42/69 | chr1 | 12343626 | |||||||
| chr1:12343748 | C | T | 1 | a0001c0009t0022g0076 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.8885+697C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 42/69 | chr1 | 12343748 | |||||||
| chr1:12343824 | A | G | 1 | a0016c0018t0001g0080 | 1 | NA18968.hp1 | intron_variant | MODIFIER | c.8885+773A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 42/69 | chr1 | 12343824 | |||||||
| chr1:12343830 | G | T | 2 | a0001c0009t0004g0018 a0001c0009t0008g0017 |
2 | HG03579.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.8885+779G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 42/69 | chr1 | 12343830 | |||||||
| chr1:12344114 | A | G | 3 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 |
3 | HG02717.hp1 HG03195.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.8885+1063A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 42/69 | chr1 | 12344114 | |||||||
| chr1:12344386 | C | T | 1 | a0001c0002t0001g0089 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.8886-988C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 42/69 | chr1 | 12344386 | |||||||
| chr1:12344908 | G | A | 2 | a0001c0001t0002g0043 a0001c0001t0002g0072 |
2 | HG02083.hp2 NA18959.hp2 |
intron_variant | MODIFIER | c.8886-466G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 42/69 | chr1 | 12344908 | |||||||
| chr1:12344919 | C | G | 1 | a0018c0015t0024g0001 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.8886-455C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 42/69 | chr1 | 12344919 | |||||||
| chr1:12344984 | A | G | 26 | a0001c0001t0002g0140 a0001c0001t0015g0069 a0001c0001t0016g0032 others(23): Show |
26 | HG01106.hp1 HG01256.hp1 HG01346.hp1 others(23): Show |
intron_variant | MODIFIER | c.8886-390A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 42/69 | chr1 | 12344984 | |||||||
| chr1:12345007 | A | G | 1 | a0001c0024t0001g0127 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.8886-367A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 42/69 | chr1 | 12345007 | |||||||
| chr1:12345114 | T | C | 82 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(79): Show |
82 | HG00408.hp2 HG00438.hp2 HG01099.hp2 others(79): Show |
intron_variant | MODIFIER | c.8886-260T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 42/69 | chr1 | 12345114 | |||||||
| chr1:12345123 | C | T | 10 | a0001c0002t0007g0066 a0001c0012t0002g0074 a0001c0012t0008g0067 others(7): Show |
10 | HG01109.hp1 HG01243.hp2 HG01884.hp1 others(7): Show |
intron_variant | MODIFIER | c.8886-251C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 42/69 | chr1 | 12345123 | |||||||
| chr1:12345680 | A | G | 2 | a0001c0011t0011g0016 a0001c0011t0018g0015 |
2 | HG02895.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.9021+171A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 43/69 | chr1 | 12345680 | |||||||
| chr1:12345892 | G | C | 1 | a0007c0029t0011g0144 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.9021+383G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 43/69 | chr1 | 12345892 | |||||||
| chr1:12345988 | C | T | 88 | a0001c0001t0001g0037 a0001c0001t0002g0034 a0001c0001t0002g0038 others(85): Show |
88 | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(85): Show |
intron_variant | MODIFIER | c.9021+479C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 43/69 | chr1 | 12345988 | |||||||
| chr1:12346055 | G | C | 4 | a0001c0009t0004g0018 a0001c0009t0008g0017 a0001c0009t0022g0076 others(1): Show |
4 | HG01255.hp2 HG03579.hp1 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.9021+546G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 43/69 | chr1 | 12346055 | |||||||
| chr1:12346061 | A | G | 7 | a0001c0003t0005g0048 a0001c0003t0005g0049 a0001c0003t0005g0050 others(4): Show |
7 | HG01256.hp1 HG01346.hp1 HG02273.hp1 others(4): Show |
intron_variant | MODIFIER | c.9022-544A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 43/69 | chr1 | 12346061 | |||||||
| chr1:12346346 | C | A | 20 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(17): Show |
20 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(17): Show |
intron_variant | MODIFIER | c.9022-259C>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 43/69 | chr1 | 12346346 | |||||||
| chr1:12346477 | A | G | 1 | a0014c0020t0023g0077 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.9022-128A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 43/69 | chr1 | 12346477 | |||||||
| chr1:12346805 | C | G | 1 | a0001c0009t0022g0076 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.9069+153C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 44/69 | chr1 | 12346805 | |||||||
| chr1:12346872 | A | G | 19 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(16): Show |
19 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(16): Show |
intron_variant | MODIFIER | c.9069+220A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 44/69 | chr1 | 12346872 | |||||||
| chr1:12347176 | CT | C | 12 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(9): Show |
12 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.9069+536delT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 44/69 | INFO_REALIGN_3_PRIME | chr1 | 12347176 | ||||||
| chr1:12347224 | G | T | 2 | a0001c0009t0004g0018 a0001c0009t0008g0017 |
2 | HG03579.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.9069+572G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 44/69 | chr1 | 12347224 | |||||||
| chr1:12347331 | C | T | 2 | a0001c0009t0004g0018 a0001c0009t0008g0017 |
2 | HG03579.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.9069+679C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 44/69 | chr1 | 12347331 | |||||||
| chr1:12347376 | T | G | 1 | a0004c0031t0014g0142 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.9069+724T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 44/69 | chr1 | 12347376 | |||||||
| chr1:12347515 | T | C | 2 | a0001c0013t0001g0065 a0001c0013t0001g0073 |
2 | HG03195.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.9069+863T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 44/69 | chr1 | 12347515 | |||||||
| chr1:12347736 | A | T | 2 | a0001c0013t0001g0065 a0001c0013t0001g0073 |
2 | HG03195.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.9069+1084A>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 44/69 | chr1 | 12347736 | |||||||
| chr1:12347939 | C | T | 1 | a0001c0008t0003g0079 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.9070-884C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 44/69 | chr1 | 12347939 | |||||||
| chr1:12348017 | T | C | 12 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(9): Show |
12 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.9070-806T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 44/69 | chr1 | 12348017 | |||||||
| chr1:12348078 | A | G | 3 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 |
3 | HG02717.hp1 HG03195.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.9070-745A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 44/69 | chr1 | 12348078 | |||||||
| chr1:12348372 | C | T | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.9070-451C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 44/69 | chr1 | 12348372 | |||||||
| chr1:12348775 | A | G | 2 | a0001c0001t0001g0108 a0001c0001t0011g0107 |
2 | HG02976.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.9070-48A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 44/69 | chr1 | 12348775 | |||||||
| chr1:12348810 | C | T | 1 | a0010c0017t0001g0083 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.9070-13C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 44/69 | chr1 | 12348810 | |||||||
| chr1:12349546 | G | T | 21 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(18): Show |
21 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(18): Show |
intron_variant | MODIFIER | c.9431+172G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | chr1 | 12349546 | |||||||
| chr1:12349598 | A | G | 1 | a0001c0001t0004g0139 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.9431+224A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | chr1 | 12349598 | |||||||
| chr1:12349743 | T | C | 21 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(18): Show |
21 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(18): Show |
intron_variant | MODIFIER | c.9431+369T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | chr1 | 12349743 | |||||||
| chr1:12349776 | A | G | 1 | a0001c0001t0004g0148 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.9431+402A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | chr1 | 12349776 | |||||||
| chr1:12349817 | G | A | 1 | a0001c0001t0001g0091 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.9431+443G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | chr1 | 12349817 | |||||||
| chr1:12349926 | C | A | 2 | a0001c0009t0004g0018 a0001c0009t0008g0017 |
2 | HG03579.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.9431+552C>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | chr1 | 12349926 | |||||||
| chr1:12350254 | T | C | 1 | a0001c0009t0022g0076 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.9431+880T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | chr1 | 12350254 | |||||||
| chr1:12350310 | A | G | 4 | a0001c0009t0004g0018 a0001c0009t0008g0017 a0001c0009t0022g0076 others(1): Show |
4 | HG01255.hp2 HG03579.hp1 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.9431+936A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | chr1 | 12350310 | |||||||
| chr1:12350630 | T | C | 60 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(57): Show |
60 | HG00408.hp2 HG00438.hp2 HG01106.hp1 others(57): Show |
intron_variant | MODIFIER | c.9431+1256T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | chr1 | 12350630 | |||||||
| chr1:12350739 | A | C | 1 | a0001c0002t0001g0099 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.9431+1365A>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | chr1 | 12350739 | |||||||
| chr1:12350774 | CA | C | 3 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 |
3 | HG02717.hp1 HG03195.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.9431+1401delA | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | chr1 | 12350774 | |||||||
| chr1:12350790 | T | C | 2 | a0001c0009t0004g0018 a0001c0009t0008g0017 |
2 | HG03579.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.9431+1416T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | chr1 | 12350790 | |||||||
| chr1:12350850 | GA | G | 12 | a0001c0001t0002g0064 a0001c0001t0009g0027 a0001c0002t0002g0024 others(9): Show |
12 | HG00408.hp2 HG00438.hp2 HG02165.hp1 others(9): Show |
intron_variant | MODIFIER | c.9431+1483delA | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | INFO_REALIGN_3_PRIME | chr1 | 12350850 | ||||||
| chr1:12350936 | A | T | 1 | a0001c0001t0002g0072 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.9431+1562A>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | chr1 | 12350936 | |||||||
| chr1:12351349 | A | G | 150 | a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 others(147): Show |
150 | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(147): Show |
intron_variant | MODIFIER | c.9431+1975A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | chr1 | 12351349 | |||||||
| chr1:12351580 | G | A | 12 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(9): Show |
12 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.9431+2206G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | chr1 | 12351580 | |||||||
| chr1:12351614 | C | T | 1 | a0002c0004t0001g0103 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.9431+2240C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | chr1 | 12351614 | |||||||
| chr1:12351645 | G | C | 1 | a0003c0007t0007g0152 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.9431+2271G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | chr1 | 12351645 | |||||||
| chr1:12351648 | A | G | 80 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(77): Show |
80 | HG00408.hp2 HG00438.hp2 HG01099.hp2 others(77): Show |
intron_variant | MODIFIER | c.9431+2274A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | chr1 | 12351648 | |||||||
| chr1:12351652 | T | A | 1 | a0003c0007t0007g0152 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.9431+2278T>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | chr1 | 12351652 | |||||||
| chr1:12351654 | T | C | 1 | a0003c0007t0007g0152 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.9431+2280T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | chr1 | 12351654 | |||||||
| chr1:12351655 | G | A | 1 | a0003c0007t0007g0152 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.9431+2281G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | chr1 | 12351655 | |||||||
| chr1:12351656 | A | G | 1 | a0003c0007t0007g0152 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.9431+2282A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | chr1 | 12351656 | |||||||
| chr1:12351660 | T | C | 1 | a0003c0007t0007g0152 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.9431+2286T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | chr1 | 12351660 | |||||||
| chr1:12351669 | G | A | 1 | a0003c0007t0007g0152 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.9431+2295G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | chr1 | 12351669 | |||||||
| chr1:12351672 | G | A | 1 | a0003c0007t0007g0152 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.9431+2298G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | chr1 | 12351672 | |||||||
| chr1:12351694 | T | C | 1 | a0003c0007t0007g0152 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.9432-2280T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | chr1 | 12351694 | |||||||
| chr1:12351695 | G | C | 1 | a0003c0007t0007g0152 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.9432-2279G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | chr1 | 12351695 | |||||||
| chr1:12351732 | C | T | 1 | a0007c0029t0011g0144 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.9432-2242C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | chr1 | 12351732 | |||||||
| chr1:12351733 | A | G | 60 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(57): Show |
60 | HG00408.hp2 HG00438.hp2 HG01106.hp1 others(57): Show |
intron_variant | MODIFIER | c.9432-2241A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | chr1 | 12351733 | |||||||
| chr1:12351949 | A | T | 1 | a0018c0015t0024g0001 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.9432-2025A>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | chr1 | 12351949 | |||||||
| chr1:12352025 | C | T | 1 | a0001c0001t0001g0084 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.9432-1949C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | chr1 | 12352025 | |||||||
| chr1:12352393 | C | G | 1 | a0001c0001t0004g0139 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.9432-1581C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | chr1 | 12352393 | |||||||
| chr1:12352429 | G | A | 2 | a0001c0001t0001g0125 a0001c0001t0004g0139 |
2 | HG02523.hp2 NA18977.hp2 |
intron_variant | MODIFIER | c.9432-1545G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | chr1 | 12352429 | |||||||
| chr1:12352455 | G | C | 1 | a0018c0015t0024g0001 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.9432-1519G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | chr1 | 12352455 | |||||||
| chr1:12352590 | G | A | 12 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(9): Show |
12 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.9432-1384G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | chr1 | 12352590 | |||||||
| chr1:12352704 | C | T | 1 | a0001c0001t0004g0148 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.9432-1270C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | chr1 | 12352704 | |||||||
| chr1:12352742 | T | A | 45 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(42): Show |
45 | HG00408.hp2 HG00438.hp2 HG01106.hp1 others(42): Show |
intron_variant | MODIFIER | c.9432-1232T>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | chr1 | 12352742 | |||||||
| chr1:12352761 | C | T | 1 | a0003c0007t0007g0150 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.9432-1213C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | chr1 | 12352761 | |||||||
| chr1:12352965 | C | CA | 20 | a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0109 others(17): Show |
20 | HG01099.hp1 HG02056.hp2 HG02165.hp2 others(17): Show |
intron_variant | MODIFIER | c.9432-978dupA | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | INFO_REALIGN_3_PRIME | chr1 | 12352965 | ||||||
| chr1:12352965 | C | CAA | 11 | a0001c0001t0001g0023 a0001c0001t0001g0085 a0001c0001t0001g0108 others(8): Show |
11 | HG01071.hp1 HG01071.hp2 HG01106.hp2 others(8): Show |
intron_variant | MODIFIER | c.9432-979_9432-978d others(4): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | INFO_REALIGN_3_PRIME | chr1 | 12352965 | ||||||
| chr1:12352965 | C | CAAA | 17 | a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0145 others(14): Show |
17 | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(14): Show |
intron_variant | MODIFIER | c.9432-980_9432-978d others(5): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | INFO_REALIGN_3_PRIME | chr1 | 12352965 | ||||||
| chr1:12352965 | C | CAAAA | 20 | a0001c0001t0001g0019 a0001c0001t0001g0123 a0001c0001t0004g0126 others(17): Show |
20 | HG00438.hp1 HG01361.hp2 HG01928.hp2 others(17): Show |
intron_variant | MODIFIER | c.9432-981_9432-978d others(6): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | INFO_REALIGN_3_PRIME | chr1 | 12352965 | ||||||
| chr1:12352965 | C | CAAAAA | 8 | a0001c0001t0001g0037 a0001c0001t0001g0097 a0001c0001t0002g0064 others(5): Show |
8 | HG02071.hp2 HG02572.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.9432-982_9432-978d others(7): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | INFO_REALIGN_3_PRIME | chr1 | 12352965 | ||||||
| chr1:12352965 | C | CAAAAAA | 11 | a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0098 others(8): Show |
11 | HG02698.hp2 HG02717.hp1 HG02717.hp2 others(8): Show |
intron_variant | MODIFIER | c.9432-983_9432-978d others(8): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | INFO_REALIGN_3_PRIME | chr1 | 12352965 | ||||||
| chr1:12352965 | C | CAAAAAAA | 5 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0043 others(2): Show |
5 | HG02735.hp1 HG02738.hp2 HG03486.hp1 others(2): Show |
intron_variant | MODIFIER | c.9432-984_9432-978d others(9): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | INFO_REALIGN_3_PRIME | chr1 | 12352965 | ||||||
| chr1:12352965 | C | CAAAAAAA others(3): Show |
1 | a0009c0022t0002g0033 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.9432-987_9432-978d others(12): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | INFO_REALIGN_3_PRIME | chr1 | 12352965 | ||||||
| chr1:12352965 | C | CAAAAAAA others(4): Show |
1 | a0001c0002t0004g0047 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.9432-988_9432-978d others(13): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | INFO_REALIGN_3_PRIME | chr1 | 12352965 | ||||||
| chr1:12352965 | C | CAAAAAAA others(14): Show |
1 | a0001c0001t0002g0140 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.9432-998_9432-978d others(23): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | INFO_REALIGN_3_PRIME | chr1 | 12352965 | ||||||
| chr1:12352965 | CA | C | 12 | a0001c0001t0001g0022 a0001c0003t0002g0055 a0001c0003t0002g0056 others(9): Show |
12 | HG01109.hp1 HG01256.hp1 HG01433.hp1 others(9): Show |
intron_variant | MODIFIER | c.9432-978delA | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | INFO_REALIGN_3_PRIME | chr1 | 12352965 | ||||||
| chr1:12352965 | CAAAAAA | C | 11 | a0001c0006t0003g0004 a0001c0006t0003g0009 a0001c0006t0003g0013 others(8): Show |
11 | HG01099.hp2 HG01243.hp1 HG01361.hp1 others(8): Show |
intron_variant | MODIFIER | c.9432-983_9432-978d others(8): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | INFO_REALIGN_3_PRIME | chr1 | 12352965 | ||||||
| chr1:12352965 | CAAAAAAA others(6): Show |
C | 1 | a0007c0029t0011g0144 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.9432-990_9432-978d others(15): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | INFO_REALIGN_3_PRIME | chr1 | 12352965 | ||||||
| chr1:12352965 | CAAAAAAA others(8): Show |
C | 1 | a0001c0001t0001g0117 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.9432-992_9432-978d others(17): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | INFO_REALIGN_3_PRIME | chr1 | 12352965 | ||||||
| chr1:12352999 | A | G | 1 | a0001c0001t0001g0037 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.9432-975A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | chr1 | 12352999 | |||||||
| chr1:12353084 | C | A | 22 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(19): Show |
22 | HG00408.hp2 HG00438.hp2 HG02056.hp1 others(19): Show |
intron_variant | MODIFIER | c.9432-890C>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | chr1 | 12353084 | |||||||
| chr1:12353113 | CAAG | C | 3 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 |
3 | HG02717.hp1 HG03195.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.9432-859_9432-857d others(5): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | INFO_REALIGN_3_PRIME | chr1 | 12353113 | ||||||
| chr1:12353340 | C | T | 20 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(17): Show |
20 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(17): Show |
intron_variant | MODIFIER | c.9432-634C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | chr1 | 12353340 | |||||||
| chr1:12353532 | C | CA | 18 | a0001c0001t0001g0087 a0001c0001t0001g0123 a0001c0001t0001g0125 others(15): Show |
18 | HG00438.hp1 HG01361.hp2 HG01884.hp2 others(15): Show |
intron_variant | MODIFIER | c.9432-418dupA | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | INFO_REALIGN_3_PRIME | chr1 | 12353532 | ||||||
| chr1:12353532 | C | CAA | 5 | a0001c0001t0001g0088 a0001c0002t0007g0066 a0001c0008t0003g0008 others(2): Show |
5 | HG01928.hp1 HG02622.hp2 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.9432-419_9432-418d others(4): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | INFO_REALIGN_3_PRIME | chr1 | 12353532 | ||||||
| chr1:12353532 | C | CAAA | 14 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0013 others(11): Show |
14 | HG01099.hp2 HG01243.hp1 HG01243.hp2 others(11): Show |
intron_variant | MODIFIER | c.9432-420_9432-418d others(5): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | INFO_REALIGN_3_PRIME | chr1 | 12353532 | ||||||
| chr1:12353675 | GAATATCG others(7): Show |
G | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.9432-296_9432-283d others(16): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | INFO_REALIGN_3_PRIME | chr1 | 12353675 | ||||||
| chr1:12353682 | G | A | 1 | a0018c0015t0024g0001 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.9432-292G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | chr1 | 12353682 | |||||||
| chr1:12353912 | A | G | 2 | a0001c0009t0004g0018 a0001c0009t0008g0017 |
2 | HG03579.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.9432-62A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | chr1 | 12353912 | |||||||
| chr1:12354357 | C | G | 12 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(9): Show |
12 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.9679+136C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 47/69 | chr1 | 12354357 | |||||||
| chr1:12354640 | G | C | 1 | a0001c0001t0001g0097 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.9679+419G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 47/69 | chr1 | 12354640 | |||||||
| chr1:12354745 | C | T | 1 | a0001c0001t0012g0121 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.9679+524C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 47/69 | chr1 | 12354745 | |||||||
| chr1:12354830 | G | A | 1 | a0014c0020t0023g0077 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.9679+609G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 47/69 | chr1 | 12354830 | |||||||
| chr1:12355111 | C | G | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.9680-788C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 47/69 | chr1 | 12355111 | |||||||
| chr1:12355204 | T | TC | 2 | a0001c0011t0011g0016 a0001c0011t0018g0015 |
2 | HG02895.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.9680-694dupC | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 47/69 | INFO_REALIGN_3_PRIME | chr1 | 12355204 | ||||||
| chr1:12355210 | C | G | 1 | a0001c0001t0004g0139 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.9680-689C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 47/69 | chr1 | 12355210 | |||||||
| chr1:12355310 | G | T | 4 | a0001c0005t0002g0059 a0001c0005t0002g0062 a0001c0005t0002g0068 others(1): Show |
4 | HG01884.hp2 HG02486.hp2 HG02572.hp2 others(1): Show |
intron_variant | MODIFIER | c.9680-589G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 47/69 | chr1 | 12355310 | |||||||
| chr1:12355567 | C | G | 1 | a0001c0001t0004g0148 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.9680-332C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 47/69 | chr1 | 12355567 | |||||||
| chr1:12356112 | G | T | 12 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(9): Show |
12 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.9871+22G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 48/69 | chr1 | 12356112 | |||||||
| chr1:12356596 | A | G | 3 | a0001c0002t0007g0066 a0001c0012t0002g0074 a0001c0012t0008g0067 |
3 | HG01243.hp2 HG02622.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.9998+72A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 49/69 | chr1 | 12356596 | |||||||
| chr1:12356602 | G | A | 3 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 |
3 | HG02717.hp1 HG03195.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.9998+78G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 49/69 | chr1 | 12356602 | |||||||
| chr1:12356912 | C | T | 3 | a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0021g0122 |
3 | HG02572.hp1 HG03486.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.9998+388C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 49/69 | chr1 | 12356912 | |||||||
| chr1:12357037 | A | G | 4 | a0001c0009t0004g0018 a0001c0009t0008g0017 a0001c0009t0022g0076 others(1): Show |
4 | HG01255.hp2 HG03579.hp1 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.9998+513A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 49/69 | chr1 | 12357037 | |||||||
| chr1:12357169 | G | T | 12 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(9): Show |
12 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.9998+645G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 49/69 | chr1 | 12357169 | |||||||
| chr1:12357299 | A | G | 12 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(9): Show |
12 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.9998+775A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 49/69 | chr1 | 12357299 | |||||||
| chr1:12357390 | A | G | 2 | a0001c0001t0002g0064 a0001c0002t0002g0035 |
2 | NA18974.hp1 NA19001.hp1 |
intron_variant | MODIFIER | c.9998+866A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 49/69 | chr1 | 12357390 | |||||||
| chr1:12357821 | T | G | 1 | a0001c0001t0020g0078 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.9999-638T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 49/69 | chr1 | 12357821 | |||||||
| chr1:12357877 | G | A | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.9999-582G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 49/69 | chr1 | 12357877 | |||||||
| chr1:12358003 | CA | C | 16 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(13): Show |
16 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(13): Show |
intron_variant | MODIFIER | c.9999-440delA | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 49/69 | INFO_REALIGN_3_PRIME | chr1 | 12358003 | ||||||
| chr1:12358627 | C | T | 2 | a0001c0002t0002g0040 a0001c0002t0002g0041 |
2 | HG03491.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.10141+26C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 50/69 | chr1 | 12358627 | |||||||
| chr1:12358984 | T | C | 4 | a0001c0009t0004g0018 a0001c0009t0008g0017 a0001c0009t0022g0076 others(1): Show |
4 | HG01255.hp2 HG03579.hp1 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.10141+383T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 50/69 | chr1 | 12358984 | |||||||
| chr1:12359171 | A | C | 1 | a0001c0001t0001g0134 | 1 | NA19001.hp2 | intron_variant | MODIFIER | c.10141+570A>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 50/69 | chr1 | 12359171 | |||||||
| chr1:12359803 | A | G | 1 | a0001c0008t0003g0002 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.10141+1202A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 50/69 | chr1 | 12359803 | |||||||
| chr1:12359827 | G | A | 7 | a0001c0003t0005g0048 a0001c0003t0005g0049 a0001c0003t0005g0050 others(4): Show |
7 | HG01256.hp1 HG01346.hp1 HG02273.hp1 others(4): Show |
intron_variant | MODIFIER | c.10141+1226G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 50/69 | chr1 | 12359827 | |||||||
| chr1:12360244 | T | C | 60 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(57): Show |
60 | HG00408.hp2 HG00438.hp2 HG01106.hp1 others(57): Show |
intron_variant | MODIFIER | c.10141+1643T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 50/69 | chr1 | 12360244 | |||||||
| chr1:12360536 | C | T | 1 | a0015c0016t0026g0149 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.10141+1935C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 50/69 | chr1 | 12360536 | |||||||
| chr1:12360953 | A | G | 33 | a0001c0002t0007g0066 a0001c0006t0003g0004 a0001c0006t0003g0007 others(30): Show |
33 | HG01099.hp2 HG01109.hp1 HG01243.hp1 others(30): Show |
intron_variant | MODIFIER | c.10142-1767A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 50/69 | chr1 | 12360953 | |||||||
| chr1:12360972 | T | G | 1 | a0001c0001t0004g0148 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.10142-1748T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 50/69 | chr1 | 12360972 | |||||||
| chr1:12361375 | A | T | 2 | a0001c0001t0001g0087 a0002c0004t0001g0135 |
2 | NA18951.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.10142-1345A>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 50/69 | chr1 | 12361375 | |||||||
| chr1:12361391 | A | ATTTAT | 3 | a0001c0001t0002g0042 a0001c0002t0002g0040 a0001c0002t0002g0041 |
3 | HG03017.hp1 HG03491.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.10142-1326_10142-1 others(11): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 50/69 | INFO_REALIGN_3_PRIME | chr1 | 12361391 | ||||||
| chr1:12361395 | A | AT | 3 | a0001c0001t0002g0043 a0001c0001t0002g0072 a0001c0002t0002g0039 |
3 | HG02083.hp2 HG02523.hp1 NA18959.hp2 |
intron_variant | MODIFIER | c.10142-1322dupT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 50/69 | INFO_REALIGN_3_PRIME | chr1 | 12361395 | ||||||
| chr1:12361395 | A | ATTTAT | 13 | a0001c0002t0007g0066 a0001c0011t0011g0016 a0001c0011t0018g0015 others(10): Show |
13 | HG01109.hp1 HG01243.hp2 HG01884.hp1 others(10): Show |
intron_variant | MODIFIER | c.10142-1322_10142-1 others(11): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 50/69 | INFO_REALIGN_3_PRIME | chr1 | 12361395 | ||||||
| chr1:12361395 | A | ATTTT | 3 | a0001c0001t0015g0069 a0001c0002t0001g0089 a0001c0002t0015g0057 |
3 | HG01106.hp1 HG03516.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.10142-1322_10142-1 others(10): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 50/69 | INFO_REALIGN_3_PRIME | chr1 | 12361395 | ||||||
| chr1:12361396 | T | TTTTA | 16 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0064 others(13): Show |
16 | HG00408.hp2 HG00438.hp2 HG02056.hp1 others(13): Show |
intron_variant | MODIFIER | c.10142-1322_10142-1 others(10): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 50/69 | INFO_REALIGN_3_PRIME | chr1 | 12361396 | ||||||
| chr1:12361399 | A | ATTTT | 7 | a0001c0002t0004g0047 a0001c0003t0005g0050 a0001c0003t0005g0051 others(4): Show |
7 | HG03098.hp2 NA18906.hp1 NA18971.hp2 others(4): Show |
intron_variant | MODIFIER | c.10142-1318_10142-1 others(10): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 50/69 | INFO_REALIGN_3_PRIME | chr1 | 12361399 | ||||||
| chr1:12361399 | A | T | 26 | a0001c0001t0001g0037 a0001c0001t0001g0091 a0001c0001t0002g0034 others(23): Show |
26 | HG00408.hp2 HG00438.hp2 HG01106.hp1 others(23): Show |
intron_variant | MODIFIER | c.10142-1321A>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 50/69 | chr1 | 12361399 | |||||||
| chr1:12361403 | A | ATTTT | 10 | a0001c0003t0001g0058 a0001c0003t0002g0055 a0001c0003t0002g0056 others(7): Show |
10 | HG01256.hp1 HG01346.hp1 HG01884.hp2 others(7): Show |
intron_variant | MODIFIER | c.10142-1310_10142-1 others(10): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 50/69 | INFO_REALIGN_3_PRIME | chr1 | 12361403 | ||||||
| chr1:12361403 | A | T | 96 | a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 others(93): Show |
96 | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(93): Show |
intron_variant | MODIFIER | c.10142-1317A>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 50/69 | chr1 | 12361403 | |||||||
| chr1:12361407 | T | A | 1 | a0001c0001t0004g0082 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.10142-1313T>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 50/69 | chr1 | 12361407 | |||||||
| chr1:12361493 | C | T | 12 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(9): Show |
12 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.10142-1227C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 50/69 | chr1 | 12361493 | |||||||
| chr1:12361890 | A | G | 34 | a0001c0002t0007g0066 a0001c0006t0003g0004 a0001c0006t0003g0007 others(31): Show |
34 | HG01099.hp2 HG01109.hp1 HG01243.hp1 others(31): Show |
intron_variant | MODIFIER | c.10142-830A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 50/69 | chr1 | 12361890 | |||||||
| chr1:12362143 | A | G | 12 | a0001c0002t0007g0066 a0001c0011t0011g0016 a0001c0011t0018g0015 others(9): Show |
12 | HG01109.hp1 HG01884.hp1 HG01891.hp2 others(9): Show |
intron_variant | MODIFIER | c.10142-577A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 50/69 | chr1 | 12362143 | |||||||
| chr1:12362207 | C | A | 12 | a0001c0002t0007g0066 a0001c0012t0002g0074 a0001c0012t0008g0067 others(9): Show |
12 | HG01109.hp1 HG01243.hp2 HG01884.hp1 others(9): Show |
intron_variant | MODIFIER | c.10142-513C>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 50/69 | chr1 | 12362207 | |||||||
| chr1:12362312 | G | A | 1 | a0005c0010t0008g0070 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.10142-408G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 50/69 | chr1 | 12362312 | |||||||
| chr1:12362593 | T | C | 1 | a0001c0014t0012g0075 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.10142-127T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 50/69 | chr1 | 12362593 | |||||||
| chr1:12362930 | G | A | 2 | a0001c0001t0012g0119 a0001c0001t0012g0121 |
2 | HG01256.hp2 HG02004.hp1 |
intron_variant | MODIFIER | c.10272+80G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 51/69 | chr1 | 12362930 | |||||||
| chr1:12363045 | T | C | 1 | a0014c0020t0023g0077 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.10273-27T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 51/69 | chr1 | 12363045 | |||||||
| chr1:12363461 | T | C | 3 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 |
3 | HG02717.hp1 HG03195.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.10448+214T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | chr1 | 12363461 | |||||||
| chr1:12363648 | A | G | 4 | a0001c0009t0004g0018 a0001c0009t0008g0017 a0001c0009t0022g0076 others(1): Show |
4 | HG01255.hp2 HG03579.hp1 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.10448+401A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | chr1 | 12363648 | |||||||
| chr1:12363681 | G | A | 12 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(9): Show |
12 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.10448+434G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | chr1 | 12363681 | |||||||
| chr1:12363838 | A | G | 14 | a0001c0002t0007g0066 a0001c0011t0011g0016 a0001c0011t0018g0015 others(11): Show |
14 | HG01109.hp1 HG01243.hp2 HG01884.hp1 others(11): Show |
intron_variant | MODIFIER | c.10448+591A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | chr1 | 12363838 | |||||||
| chr1:12363865 | A | G | 1 | a0001c0001t0020g0078 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.10448+618A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | chr1 | 12363865 | |||||||
| chr1:12363877 | G | C | 79 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(76): Show |
79 | HG00408.hp2 HG00438.hp2 HG01099.hp2 others(76): Show |
intron_variant | MODIFIER | c.10448+630G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | chr1 | 12363877 | |||||||
| chr1:12363878 | G | A | 12 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(9): Show |
12 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.10448+631G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | chr1 | 12363878 | |||||||
| chr1:12363910 | G | A | 12 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(9): Show |
12 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.10448+663G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | chr1 | 12363910 | |||||||
| chr1:12363930 | C | T | 1 | a0001c0001t0001g0113 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.10448+683C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | chr1 | 12363930 | |||||||
| chr1:12363951 | CA | C | 79 | a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0037 others(76): Show |
79 | HG00408.hp1 HG00438.hp1 HG00438.hp2 others(76): Show |
intron_variant | MODIFIER | c.10448+733delA | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | INFO_REALIGN_3_PRIME | chr1 | 12363951 | ||||||
| chr1:12363951 | CAA | C | 40 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(37): Show |
40 | HG00408.hp2 HG01071.hp1 HG01099.hp1 others(37): Show |
intron_variant | MODIFIER | c.10448+732_10448+73 others(6): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | INFO_REALIGN_3_PRIME | chr1 | 12363951 | ||||||
| chr1:12363951 | CAAAAAAA others(9): Show |
C | 1 | a0007c0029t0011g0144 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.10448+718_10448+73 others(20): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | INFO_REALIGN_3_PRIME | chr1 | 12363951 | ||||||
| chr1:12363978 | A | C | 12 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(9): Show |
12 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.10448+731A>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | chr1 | 12363978 | |||||||
| chr1:12364280 | T | A | 12 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(9): Show |
12 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.10448+1033T>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | chr1 | 12364280 | |||||||
| chr1:12364291 | C | A | 1 | a0001c0001t0016g0032 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.10448+1044C>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | chr1 | 12364291 | |||||||
| chr1:12364460 | G | A | 3 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 |
3 | HG02717.hp1 HG03195.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.10448+1213G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | chr1 | 12364460 | |||||||
| chr1:12364480 | A | G | 2 | a0001c0009t0004g0018 a0001c0009t0008g0017 |
2 | HG03579.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.10448+1233A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | chr1 | 12364480 | |||||||
| chr1:12364583 | A | G | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.10448+1336A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | chr1 | 12364583 | |||||||
| chr1:12364592 | T | C | 1 | a0003c0007t0007g0153 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.10448+1345T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | chr1 | 12364592 | |||||||
| chr1:12364838 | G | T | 3 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 |
3 | HG02717.hp1 HG03195.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.10448+1591G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | chr1 | 12364838 | |||||||
| chr1:12364918 | T | C | 81 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(78): Show |
81 | HG00408.hp2 HG00438.hp2 HG01099.hp2 others(78): Show |
intron_variant | MODIFIER | c.10448+1671T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | chr1 | 12364918 | |||||||
| chr1:12364997 | A | C | 1 | a0002c0004t0001g0096 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.10448+1750A>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | chr1 | 12364997 | |||||||
| chr1:12365006 | T | A | 1 | a0001c0009t0022g0076 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.10448+1759T>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | chr1 | 12365006 | |||||||
| chr1:12365427 | C | T | 1 | a0001c0001t0004g0126 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.10448+2180C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | chr1 | 12365427 | |||||||
| chr1:12365502 | C | T | 46 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(43): Show |
46 | HG00408.hp2 HG00438.hp2 HG01106.hp1 others(43): Show |
intron_variant | MODIFIER | c.10448+2255C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | chr1 | 12365502 | |||||||
| chr1:12365520 | ATG | A | 3 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 |
3 | HG02717.hp1 HG03195.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.10448+2274_10448+2 others(8): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | chr1 | 12365520 | |||||||
| chr1:12365614 | G | A | 1 | a0001c0001t0001g0134 | 1 | NA19001.hp2 | intron_variant | MODIFIER | c.10448+2367G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | chr1 | 12365614 | |||||||
| chr1:12365626 | C | T | 1 | a0014c0020t0023g0077 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.10448+2379C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | chr1 | 12365626 | |||||||
| chr1:12365703 | C | CA | 9 | a0001c0001t0001g0108 a0001c0001t0004g0082 a0001c0001t0011g0107 others(6): Show |
9 | HG01255.hp2 HG02970.hp2 HG02976.hp2 others(6): Show |
intron_variant | MODIFIER | c.10448+2473dupA | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | INFO_REALIGN_3_PRIME | chr1 | 12365703 | ||||||
| chr1:12365703 | C | CAA | 14 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(11): Show |
14 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(11): Show |
intron_variant | MODIFIER | c.10448+2472_10448+2 others(8): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | INFO_REALIGN_3_PRIME | chr1 | 12365703 | ||||||
| chr1:12366179 | G | C | 14 | a0001c0002t0007g0066 a0001c0011t0011g0016 a0001c0011t0018g0015 others(11): Show |
14 | HG01109.hp1 HG01243.hp2 HG01884.hp1 others(11): Show |
intron_variant | MODIFIER | c.10449-2289G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | chr1 | 12366179 | |||||||
| chr1:12366288 | G | T | 1 | a0013c0027t0001g0105 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.10449-2180G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | chr1 | 12366288 | |||||||
| chr1:12366666 | C | T | 58 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(55): Show |
58 | HG00408.hp2 HG00438.hp2 HG01106.hp1 others(55): Show |
intron_variant | MODIFIER | c.10449-1802C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | chr1 | 12366666 | |||||||
| chr1:12366680 | C | G | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.10449-1788C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | chr1 | 12366680 | |||||||
| chr1:12367185 | T | G | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.10449-1283T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | chr1 | 12367185 | |||||||
| chr1:12367284 | A | G | 12 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(9): Show |
12 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.10449-1184A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | chr1 | 12367284 | |||||||
| chr1:12367553 | A | AATTT | 49 | a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0002g0034 others(46): Show |
49 | HG00408.hp2 HG00438.hp2 HG01106.hp1 others(46): Show |
intron_variant | MODIFIER | c.10449-882_10449-87 others(8): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | INFO_REALIGN_3_PRIME | chr1 | 12367553 | ||||||
| chr1:12367553 | A | AATTTATT others(1): Show |
2 | a0001c0001t0020g0078 a0001c0003t0005g0053 |
2 | HG01256.hp1 HG02717.hp2 |
intron_variant | MODIFIER | c.10449-886_10449-87 others(12): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | INFO_REALIGN_3_PRIME | chr1 | 12367553 | ||||||
| chr1:12367553 | A | AATTTATT others(5): Show |
3 | a0001c0009t0004g0018 a0001c0009t0008g0017 a0003c0007t0007g0154 |
3 | HG03130.hp1 HG03579.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.10449-890_10449-87 others(16): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | INFO_REALIGN_3_PRIME | chr1 | 12367553 | ||||||
| chr1:12367553 | A | AATTTATT others(9): Show |
13 | a0001c0006t0003g0009 a0001c0006t0010g0010 a0001c0008t0003g0002 others(10): Show |
13 | HG01243.hp2 HG01884.hp1 HG01891.hp2 others(10): Show |
intron_variant | MODIFIER | c.10449-894_10449-87 others(20): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | INFO_REALIGN_3_PRIME | chr1 | 12367553 | ||||||
| chr1:12367553 | A | AATTTATT others(13): Show |
7 | a0001c0002t0007g0066 a0001c0009t0022g0076 a0003c0007t0007g0150 others(4): Show |
7 | HG01109.hp1 HG01255.hp2 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.10449-898_10449-87 others(24): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | INFO_REALIGN_3_PRIME | chr1 | 12367553 | ||||||
| chr1:12367553 | A | AATTTATT others(17): Show |
1 | a0012c0028t0013g0141 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.10449-902_10449-87 others(28): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | INFO_REALIGN_3_PRIME | chr1 | 12367553 | ||||||
| chr1:12367606 | G | A | 1 | a0001c0001t0004g0148 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.10449-862G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | chr1 | 12367606 | |||||||
| chr1:12367649 | C | T | 1 | a0007c0029t0011g0144 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.10449-819C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | chr1 | 12367649 | |||||||
| chr1:12367666 | C | T | 1 | a0001c0001t0001g0134 | 1 | NA19001.hp2 | intron_variant | MODIFIER | c.10449-802C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | chr1 | 12367666 | |||||||
| chr1:12367794 | A | G | 1 | a0001c0001t0020g0078 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.10449-674A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | chr1 | 12367794 | |||||||
| chr1:12367806 | G | A | 1 | a0001c0001t0001g0116 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.10449-662G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | chr1 | 12367806 | |||||||
| chr1:12367843 | G | A | 1 | a0001c0001t0001g0110 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.10449-625G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | chr1 | 12367843 | |||||||
| chr1:12367866 | C | T | 1 | a0001c0001t0001g0124 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.10449-602C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | chr1 | 12367866 | |||||||
| chr1:12367883 | A | G | 3 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 |
3 | HG02717.hp1 HG03195.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.10449-585A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | chr1 | 12367883 | |||||||
| chr1:12368061 | A | G | 3 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 |
3 | HG02717.hp1 HG03195.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.10449-407A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | chr1 | 12368061 | |||||||
| chr1:12368210 | C | T | 1 | a0001c0001t0002g0140 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.10449-258C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | chr1 | 12368210 | |||||||
| chr1:12368243 | C | T | 1 | a0001c0003t0005g0049 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.10449-225C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | chr1 | 12368243 | |||||||
| chr1:12368933 | A | T | 1 | a0002c0004t0001g0103 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.10572+342A>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 53/69 | chr1 | 12368933 | |||||||
| chr1:12368983 | A | G | 46 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(43): Show |
46 | HG00408.hp2 HG00438.hp2 HG01106.hp1 others(43): Show |
intron_variant | MODIFIER | c.10572+392A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 53/69 | chr1 | 12368983 | |||||||
| chr1:12369025 | C | G | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.10572+434C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 53/69 | chr1 | 12369025 | |||||||
| chr1:12369033 | A | C | 14 | a0001c0002t0007g0066 a0001c0011t0011g0016 a0001c0011t0018g0015 others(11): Show |
14 | HG01109.hp1 HG01243.hp2 HG01884.hp1 others(11): Show |
intron_variant | MODIFIER | c.10573-434A>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 53/69 | chr1 | 12369033 | |||||||
| chr1:12369229 | C | CTG | 6 | a0001c0001t0001g0022 a0001c0001t0002g0140 a0001c0001t0004g0148 others(3): Show |
6 | HG01433.hp1 HG01891.hp2 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.10573-214_10573-21 others(6): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 53/69 | INFO_REALIGN_3_PRIME | chr1 | 12369229 | ||||||
| chr1:12369229 | CTG | C | 12 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(9): Show |
12 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.10573-214_10573-21 others(6): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 53/69 | INFO_REALIGN_3_PRIME | chr1 | 12369229 | ||||||
| chr1:12369229 | CTGTG | C | 4 | a0001c0001t0015g0069 a0001c0002t0004g0047 a0001c0002t0015g0057 others(1): Show |
4 | HG01106.hp1 HG03098.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.10573-216_10573-21 others(8): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 53/69 | INFO_REALIGN_3_PRIME | chr1 | 12369229 | ||||||
| chr1:12369231 | G | C | 2 | a0001c0009t0004g0018 a0001c0009t0008g0017 |
2 | HG03579.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.10573-236G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 53/69 | chr1 | 12369231 | |||||||
| chr1:12370120 | C | T | 1 | a0001c0001t0002g0140 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.10808+418C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 54/69 | chr1 | 12370120 | |||||||
| chr1:12370319 | G | A | 9 | a0002c0004t0001g0081 a0002c0004t0001g0090 a0002c0004t0001g0094 others(6): Show |
9 | HG01071.hp1 HG01099.hp1 HG02056.hp2 others(6): Show |
intron_variant | MODIFIER | c.10808+617G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 54/69 | chr1 | 12370319 | |||||||
| chr1:12370889 | T | C | 2 | a0001c0002t0007g0066 a0003c0007t0007g0150 |
2 | HG01109.hp1 HG02622.hp2 |
intron_variant | MODIFIER | c.10808+1187T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 54/69 | chr1 | 12370889 | |||||||
| chr1:12370983 | T | G | 1 | a0018c0015t0024g0001 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.10808+1281T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 54/69 | chr1 | 12370983 | |||||||
| chr1:12371071 | A | G | 12 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(9): Show |
12 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.10808+1369A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 54/69 | chr1 | 12371071 | |||||||
| chr1:12371083 | T | C | 12 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(9): Show |
12 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.10808+1381T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 54/69 | chr1 | 12371083 | |||||||
| chr1:12371174 | C | T | 2 | a0001c0001t0001g0109 a0001c0001t0001g0110 |
2 | NA18971.hp1 NA19063.hp2 |
intron_variant | MODIFIER | c.10808+1472C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 54/69 | chr1 | 12371174 | |||||||
| chr1:12371390 | CT | C | 14 | a0001c0001t0001g0147 a0001c0006t0003g0004 a0001c0006t0003g0007 others(11): Show |
14 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(11): Show |
intron_variant | MODIFIER | c.10808+1705delT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 54/69 | INFO_REALIGN_3_PRIME | chr1 | 12371390 | ||||||
| chr1:12371414 | G | A | 45 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(42): Show |
45 | HG00408.hp2 HG00438.hp2 HG01106.hp1 others(42): Show |
intron_variant | MODIFIER | c.10808+1712G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 54/69 | chr1 | 12371414 | |||||||
| chr1:12371548 | G | A | 1 | a0002c0004t0001g0090 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.10808+1846G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 54/69 | chr1 | 12371548 | |||||||
| chr1:12371717 | G | A | 2 | a0001c0012t0002g0074 a0001c0012t0008g0067 |
2 | HG01243.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.10808+2015G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 54/69 | chr1 | 12371717 | |||||||
| chr1:12371800 | C | T | 16 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(13): Show |
16 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(13): Show |
intron_variant | MODIFIER | c.10809-1950C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 54/69 | chr1 | 12371800 | |||||||
| chr1:12372021 | T | C | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.10809-1729T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 54/69 | chr1 | 12372021 | |||||||
| chr1:12372331 | G | A | 83 | a0001c0001t0001g0037 a0001c0001t0002g0034 a0001c0001t0002g0038 others(80): Show |
83 | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(80): Show |
intron_variant | MODIFIER | c.10809-1419G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 54/69 | chr1 | 12372331 | |||||||
| chr1:12372483 | G | A | 2 | a0001c0001t0001g0098 a0001c0001t0004g0136 |
2 | HG02738.hp2 HG04204.hp1 |
intron_variant | MODIFIER | c.10809-1267G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 54/69 | chr1 | 12372483 | |||||||
| chr1:12372800 | C | CT | 5 | a0001c0002t0002g0028 a0001c0002t0015g0057 a0001c0011t0018g0015 others(2): Show |
5 | HG03130.hp1 HG03225.hp1 HG03516.hp2 others(2): Show |
intron_variant | MODIFIER | c.10809-931dupT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 54/69 | INFO_REALIGN_3_PRIME | chr1 | 12372800 | ||||||
| chr1:12372800 | CT | C | 5 | a0001c0001t0004g0082 a0001c0009t0004g0018 a0001c0009t0008g0017 others(2): Show |
5 | HG02970.hp2 HG03540.hp2 HG03579.hp1 others(2): Show |
intron_variant | MODIFIER | c.10809-931delT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 54/69 | INFO_REALIGN_3_PRIME | chr1 | 12372800 | ||||||
| chr1:12372800 | CTT | C | 15 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(12): Show |
15 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(12): Show |
intron_variant | MODIFIER | c.10809-932_10809-93 others(6): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 54/69 | INFO_REALIGN_3_PRIME | chr1 | 12372800 | ||||||
| chr1:12373025 | G | A | 12 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(9): Show |
12 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.10809-725G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 54/69 | chr1 | 12373025 | |||||||
| chr1:12373083 | T | A | 1 | a0018c0015t0024g0001 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.10809-667T>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 54/69 | chr1 | 12373083 | |||||||
| chr1:12373095 | G | GT | 31 | a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0084 others(28): Show |
31 | HG01109.hp2 HG01256.hp1 HG01891.hp1 others(28): Show |
intron_variant | MODIFIER | c.10809-628dupT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 54/69 | INFO_REALIGN_3_PRIME | chr1 | 12373095 | ||||||
| chr1:12373095 | G | GTT | 35 | a0001c0001t0001g0037 a0001c0001t0002g0034 a0001c0001t0002g0038 others(32): Show |
35 | HG00408.hp2 HG00438.hp2 HG01106.hp1 others(32): Show |
intron_variant | MODIFIER | c.10809-629_10809-62 others(6): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 54/69 | INFO_REALIGN_3_PRIME | chr1 | 12373095 | ||||||
| chr1:12373095 | G | GTTT | 18 | a0001c0001t0001g0106 a0001c0001t0004g0126 a0001c0001t0006g0130 others(15): Show |
18 | HG01928.hp2 HG01993.hp2 HG02004.hp2 others(15): Show |
intron_variant | MODIFIER | c.10809-630_10809-62 others(7): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 54/69 | INFO_REALIGN_3_PRIME | chr1 | 12373095 | ||||||
| chr1:12373095 | G | GTTTT | 9 | a0001c0001t0006g0129 a0001c0001t0006g0138 a0001c0006t0003g0004 others(6): Show |
9 | HG00438.hp1 HG01099.hp2 HG01243.hp1 others(6): Show |
intron_variant | MODIFIER | c.10809-631_10809-62 others(8): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 54/69 | INFO_REALIGN_3_PRIME | chr1 | 12373095 | ||||||
| chr1:12373095 | G | GTTTTTTT others(3): Show |
1 | a0001c0001t0012g0119 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.10809-637_10809-62 others(14): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 54/69 | INFO_REALIGN_3_PRIME | chr1 | 12373095 | ||||||
| chr1:12373095 | G | GTTTTTTT others(4): Show |
2 | a0001c0001t0012g0121 a0001c0014t0012g0075 |
2 | HG00408.hp1 HG02004.hp1 |
intron_variant | MODIFIER | c.10809-638_10809-62 others(15): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 54/69 | INFO_REALIGN_3_PRIME | chr1 | 12373095 | ||||||
| chr1:12373095 | GTTTTTTT others(6): Show |
G | 3 | a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0021g0122 |
3 | HG02572.hp1 HG03486.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.10809-640_10809-62 others(17): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 54/69 | INFO_REALIGN_3_PRIME | chr1 | 12373095 | ||||||
| chr1:12373243 | C | T | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.10809-507C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 54/69 | chr1 | 12373243 | |||||||
| chr1:12373974 | A | C | 2 | a0002c0004t0001g0094 a0002c0004t0001g0095 |
2 | HG01071.hp1 HG01099.hp1 |
intron_variant | MODIFIER | c.10917+116A>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 55/69 | chr1 | 12373974 | |||||||
| chr1:12374083 | G | A | 1 | a0001c0001t0001g0087 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.10917+225G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 55/69 | chr1 | 12374083 | |||||||
| chr1:12374110 | T | C | 13 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.10917+252T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 55/69 | chr1 | 12374110 | |||||||
| chr1:12374657 | A | G | 4 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 others(1): Show |
4 | HG02717.hp1 HG03195.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.10917+799A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 55/69 | chr1 | 12374657 | |||||||
| chr1:12374724 | A | G | 1 | a0001c0002t0002g0028 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.10917+866A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 55/69 | chr1 | 12374724 | |||||||
| chr1:12374732 | G | A | 3 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 |
3 | HG02717.hp1 HG03195.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.10917+874G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 55/69 | chr1 | 12374732 | |||||||
| chr1:12374833 | G | T | 1 | a0001c0009t0022g0076 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.10917+975G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 55/69 | chr1 | 12374833 | |||||||
| chr1:12375199 | T | C | 1 | a0018c0015t0024g0001 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.10917+1341T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 55/69 | chr1 | 12375199 | |||||||
| chr1:12375419 | A | G | 13 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.10917+1561A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 55/69 | chr1 | 12375419 | |||||||
| chr1:12375591 | C | T | 1 | a0014c0020t0023g0077 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.10917+1733C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 55/69 | chr1 | 12375591 | |||||||
| chr1:12375603 | A | T | 3 | a0001c0001t0012g0119 a0001c0001t0012g0121 a0001c0014t0012g0075 |
3 | HG00408.hp1 HG01256.hp2 HG02004.hp1 |
intron_variant | MODIFIER | c.10917+1745A>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 55/69 | chr1 | 12375603 | |||||||
| chr1:12376190 | A | G | 11 | a0001c0003t0002g0055 a0001c0003t0002g0056 a0001c0003t0005g0048 others(8): Show |
11 | HG01256.hp1 HG01346.hp1 HG02273.hp1 others(8): Show |
intron_variant | MODIFIER | c.10918-2238A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 55/69 | chr1 | 12376190 | |||||||
| chr1:12376200 | T | A | 1 | a0001c0001t0002g0140 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.10918-2228T>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 55/69 | chr1 | 12376200 | |||||||
| chr1:12376212 | G | A | 1 | a0001c0009t0022g0076 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.10918-2216G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 55/69 | chr1 | 12376212 | |||||||
| chr1:12376376 | G | A | 18 | a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0097 others(15): Show |
18 | HG00438.hp1 HG01071.hp2 HG01109.hp2 others(15): Show |
intron_variant | MODIFIER | c.10918-2052G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 55/69 | chr1 | 12376376 | |||||||
| chr1:12376448 | C | A | 1 | a0001c0001t0004g0136 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.10918-1980C>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 55/69 | chr1 | 12376448 | |||||||
| chr1:12376652 | A | G | 2 | a0001c0009t0004g0018 a0001c0009t0008g0017 |
2 | HG03579.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.10918-1776A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 55/69 | chr1 | 12376652 | |||||||
| chr1:12376843 | A | G | 5 | a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 others(2): Show |
5 | HG01433.hp1 HG01891.hp1 HG02486.hp1 others(2): Show |
intron_variant | MODIFIER | c.10918-1585A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 55/69 | chr1 | 12376843 | |||||||
| chr1:12376950 | C | T | 1 | a0001c0001t0001g0104 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.10918-1478C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 55/69 | chr1 | 12376950 | |||||||
| chr1:12376978 | G | A | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.10918-1450G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 55/69 | chr1 | 12376978 | |||||||
| chr1:12377082 | G | C | 1 | a0001c0005t0002g0059 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.10918-1346G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 55/69 | chr1 | 12377082 | |||||||
| chr1:12377121 | G | A | 1 | a0014c0020t0023g0077 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.10918-1307G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 55/69 | chr1 | 12377121 | |||||||
| chr1:12377257 | A | G | 1 | a0001c0009t0022g0076 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.10918-1171A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 55/69 | chr1 | 12377257 | |||||||
| chr1:12377279 | T | G | 1 | a0001c0009t0022g0076 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.10918-1149T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 55/69 | chr1 | 12377279 | |||||||
| chr1:12377351 | C | T | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.10918-1077C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 55/69 | chr1 | 12377351 | |||||||
| chr1:12377634 | A | G | 2 | a0001c0001t0001g0109 a0001c0001t0001g0110 |
2 | NA18971.hp1 NA19063.hp2 |
intron_variant | MODIFIER | c.10918-794A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 55/69 | chr1 | 12377634 | |||||||
| chr1:12377820 | CA | C | 136 | a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 others(133): Show |
136 | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(133): Show |
intron_variant | MODIFIER | c.10918-587delA | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 55/69 | INFO_REALIGN_3_PRIME | chr1 | 12377820 | ||||||
| chr1:12377893 | T | G | 1 | a0001c0001t0001g0109 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.10918-535T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 55/69 | chr1 | 12377893 | |||||||
| chr1:12377942 | T | G | 2 | a0001c0013t0001g0065 a0001c0013t0001g0073 |
2 | HG03195.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.10918-486T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 55/69 | chr1 | 12377942 | |||||||
| chr1:12378061 | G | A | 17 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(14): Show |
17 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(14): Show |
intron_variant | MODIFIER | c.10918-367G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 55/69 | chr1 | 12378061 | |||||||
| chr1:12378632 | C | T | 1 | a0001c0002t0009g0025 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.11081+41C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 56/69 | chr1 | 12378632 | |||||||
| chr1:12378659 | A | C | 22 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(19): Show |
22 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(19): Show |
intron_variant | MODIFIER | c.11081+68A>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 56/69 | chr1 | 12378659 | |||||||
| chr1:12378694 | G | A | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.11081+103G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 56/69 | chr1 | 12378694 | |||||||
| chr1:12379278 | C | T | 1 | a0001c0002t0002g0024 | 1 | NA19012.hp2 | intron_variant | MODIFIER | c.11082-210C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 56/69 | chr1 | 12379278 | |||||||
| chr1:12379830 | A | G | 21 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(18): Show |
21 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(18): Show |
intron_variant | MODIFIER | c.11190+234A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | chr1 | 12379830 | |||||||
| chr1:12379893 | C | T | 1 | a0001c0001t0020g0078 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.11190+297C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | chr1 | 12379893 | |||||||
| chr1:12379917 | C | T | 1 | a0014c0020t0023g0077 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.11190+321C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | chr1 | 12379917 | |||||||
| chr1:12379922 | C | G | 13 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.11190+326C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | chr1 | 12379922 | |||||||
| chr1:12379959 | T | C | 21 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(18): Show |
21 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(18): Show |
intron_variant | MODIFIER | c.11190+363T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | chr1 | 12379959 | |||||||
| chr1:12379962 | A | G | 22 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(19): Show |
22 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(19): Show |
intron_variant | MODIFIER | c.11190+366A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | chr1 | 12379962 | |||||||
| chr1:12379968 | A | T | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.11190+372A>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | chr1 | 12379968 | |||||||
| chr1:12380060 | C | T | 3 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 |
3 | HG02717.hp1 HG03195.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.11190+464C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | chr1 | 12380060 | |||||||
| chr1:12380235 | A | G | 1 | a0005c0010t0008g0071 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.11190+639A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | chr1 | 12380235 | |||||||
| chr1:12380290 | G | T | 3 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 |
3 | HG02717.hp1 HG03195.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.11190+694G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | chr1 | 12380290 | |||||||
| chr1:12380471 | C | CCTCTGTC others(2): Show |
20 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(17): Show |
20 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(17): Show |
intron_variant | MODIFIER | c.11190+878_11190+87 others(13): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | INFO_REALIGN_3_PRIME | chr1 | 12380471 | ||||||
| chr1:12380741 | A | C | 1 | a0001c0001t0020g0078 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.11190+1145A>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | chr1 | 12380741 | |||||||
| chr1:12380866 | T | A | 4 | a0001c0002t0001g0006 a0001c0002t0001g0099 a0001c0002t0001g0100 others(1): Show |
4 | HG01255.hp1 HG01943.hp1 HG02300.hp1 others(1): Show |
intron_variant | MODIFIER | c.11190+1270T>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | chr1 | 12380866 | |||||||
| chr1:12380924 | T | A | 13 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.11190+1328T>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | chr1 | 12380924 | |||||||
| chr1:12381058 | T | A | 1 | a0001c0001t0004g0148 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.11190+1462T>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | chr1 | 12381058 | |||||||
| chr1:12381376 | C | T | 1 | a0001c0001t0002g0064 | 1 | NA19001.hp1 | intron_variant | MODIFIER | c.11191-1600C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | chr1 | 12381376 | |||||||
| chr1:12381912 | C | CTTTCT | 15 | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0101 others(12): Show |
15 | HG01071.hp2 HG01255.hp1 HG01255.hp2 others(12): Show |
intron_variant | MODIFIER | c.11191-1051_11191-1 others(11): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | INFO_REALIGN_3_PRIME | chr1 | 12381912 | ||||||
| chr1:12381921 | CT | C | 5 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(2): Show |
5 | HG01099.hp2 HG01346.hp2 HG01993.hp1 others(2): Show |
intron_variant | MODIFIER | c.11191-1051delT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | INFO_REALIGN_3_PRIME | chr1 | 12381921 | ||||||
| chr1:12381922 | T | TCTTTCTT others(10): Show |
1 | a0001c0001t0002g0034 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.11191-1054_11191-1 others(23): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | chr1 | 12381922 | |||||||
| chr1:12381922 | T | TTTC | 6 | a0001c0006t0003g0009 a0001c0006t0010g0010 a0001c0008t0003g0008 others(3): Show |
6 | HG01243.hp1 HG01361.hp1 HG01433.hp2 others(3): Show |
intron_variant | MODIFIER | c.11191-1052_11191-1 others(9): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | INFO_REALIGN_3_PRIME | chr1 | 12381922 | ||||||
| chr1:12381922 | T | TTTTC | 16 | a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0002g0038 others(13): Show |
16 | HG00438.hp2 HG01099.hp1 HG02083.hp1 others(13): Show |
intron_variant | MODIFIER | c.11191-996_11191-99 others(8): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | INFO_REALIGN_3_PRIME | chr1 | 12381922 | ||||||
| chr1:12381922 | T | TTTTCTTT others(1): Show |
10 | a0001c0001t0001g0092 a0001c0001t0015g0069 a0001c0002t0002g0039 others(7): Show |
10 | HG01106.hp1 HG01884.hp2 HG02056.hp1 others(7): Show |
intron_variant | MODIFIER | c.11191-1000_11191-9 others(13): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | INFO_REALIGN_3_PRIME | chr1 | 12381922 | ||||||
| chr1:12381922 | T | TTTTCTTT others(5): Show |
4 | a0001c0001t0002g0064 a0001c0002t0002g0024 a0001c0002t0004g0047 others(1): Show |
4 | HG03098.hp2 NA18971.hp2 NA19001.hp1 others(1): Show |
intron_variant | MODIFIER | c.11191-1004_11191-9 others(17): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | INFO_REALIGN_3_PRIME | chr1 | 12381922 | ||||||
| chr1:12381922 | T | TTTTCTTT others(9): Show |
2 | a0001c0001t0012g0119 a0001c0003t0005g0053 |
2 | HG01256.hp1 HG01256.hp2 |
intron_variant | MODIFIER | c.11191-1008_11191-9 others(21): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | INFO_REALIGN_3_PRIME | chr1 | 12381922 | ||||||
| chr1:12381922 | T | TTTTCTTT others(2): Show |
8 | a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0004g0126 others(5): Show |
8 | HG00438.hp1 HG01109.hp2 HG02056.hp2 others(5): Show |
intron_variant | MODIFIER | c.11191-1047_11191-1 others(15): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | INFO_REALIGN_3_PRIME | chr1 | 12381922 | ||||||
| chr1:12381922 | T | TTTTCTTT others(6): Show |
3 | a0001c0001t0001g0097 a0002c0004t0001g0090 a0008c0026t0006g0128 |
3 | HG01928.hp2 HG02683.hp1 NA19068.hp2 |
intron_variant | MODIFIER | c.11191-1047_11191-1 others(19): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | INFO_REALIGN_3_PRIME | chr1 | 12381922 | ||||||
| chr1:12381922 | T | TTTTCTTT others(10): Show |
2 | a0001c0003t0005g0052 a0017c0019t0001g0093 |
2 | NA19066.hp1 NA19066.hp2 |
intron_variant | MODIFIER | c.11191-1047_11191-1 others(23): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | INFO_REALIGN_3_PRIME | chr1 | 12381922 | ||||||
| chr1:12381922 | TTTTC | T | 9 | a0001c0001t0001g0125 a0001c0001t0001g0134 a0001c0001t0004g0139 others(6): Show |
9 | HG01109.hp1 HG02071.hp1 HG02523.hp2 others(6): Show |
intron_variant | MODIFIER | c.11191-996_11191-99 others(8): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | INFO_REALIGN_3_PRIME | chr1 | 12381922 | ||||||
| chr1:12381922 | TTTTCTTT others(1): Show |
T | 6 | a0001c0001t0001g0085 a0001c0001t0001g0109 a0001c0001t0001g0110 others(3): Show |
6 | HG01106.hp2 HG02004.hp1 NA18971.hp1 others(3): Show |
intron_variant | MODIFIER | c.11191-1000_11191-9 others(13): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | INFO_REALIGN_3_PRIME | chr1 | 12381922 | ||||||
| chr1:12381922 | TTTTCTTT others(5): Show |
T | 2 | a0001c0014t0012g0075 a0003c0007t0007g0153 |
2 | HG00408.hp1 HG01884.hp1 |
intron_variant | MODIFIER | c.11191-1004_11191-9 others(17): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | INFO_REALIGN_3_PRIME | chr1 | 12381922 | ||||||
| chr1:12381922 | TTTTCTTT others(9): Show |
T | 1 | a0012c0028t0013g0141 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.11191-1008_11191-9 others(21): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | INFO_REALIGN_3_PRIME | chr1 | 12381922 | ||||||
| chr1:12381922 | TTTTCTTT others(13): Show |
T | 2 | a0001c0001t0002g0140 a0003c0007t0007g0151 |
2 | HG02622.hp1 HG02895.hp2 |
intron_variant | MODIFIER | c.11191-1012_11191-9 others(25): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | INFO_REALIGN_3_PRIME | chr1 | 12381922 | ||||||
| chr1:12381922 | TTTTCTTT others(25): Show |
T | 1 | a0003c0007t0007g0152 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.11191-1024_11191-9 others(37): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | INFO_REALIGN_3_PRIME | chr1 | 12381922 | ||||||
| chr1:12381926 | C | CT | 9 | a0001c0001t0001g0019 a0001c0001t0001g0091 a0001c0001t0001g0108 others(6): Show |
9 | HG02300.hp1 HG02486.hp1 HG02698.hp2 others(6): Show |
intron_variant | MODIFIER | c.11191-1047dupT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | INFO_REALIGN_3_PRIME | chr1 | 12381926 | ||||||
| chr1:12381926 | C | T | 1 | a0001c0006t0010g0003 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.11191-1050C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | chr1 | 12381926 | |||||||
| chr1:12381927 | TTTC | T | 4 | a0001c0001t0001g0088 a0001c0001t0001g0124 a0001c0002t0001g0006 others(1): Show |
4 | HG01943.hp1 HG03130.hp2 NA19240.hp1 others(1): Show |
intron_variant | MODIFIER | c.11191-1046_11191-1 others(9): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | INFO_REALIGN_3_PRIME | chr1 | 12381927 | ||||||
| chr1:12381927 | TTTCTTTC | T | 7 | a0001c0001t0001g0037 a0001c0001t0001g0123 a0001c0001t0004g0082 others(4): Show |
7 | HG02965.hp1 HG02970.hp1 HG02970.hp2 others(4): Show |
intron_variant | MODIFIER | c.11191-1046_11191-1 others(13): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | INFO_REALIGN_3_PRIME | chr1 | 12381927 | ||||||
| chr1:12381927 | TTTCTTTC others(4): Show |
T | 1 | a0001c0001t0020g0078 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.11191-1046_11191-1 others(17): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | INFO_REALIGN_3_PRIME | chr1 | 12381927 | ||||||
| chr1:12381928 | T | C | 1 | a0001c0006t0010g0003 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.11191-1048T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | chr1 | 12381928 | |||||||
| chr1:12381968 | TTCTTTCT others(7): Show |
T | 3 | a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0113 |
3 | HG01943.hp2 HG02273.hp2 HG02300.hp2 |
intron_variant | MODIFIER | c.11191-1004_11191-9 others(19): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | INFO_REALIGN_3_PRIME | chr1 | 12381968 | ||||||
| chr1:12381972 | TTCTTTCT others(3): Show |
T | 1 | a0004c0031t0014g0142 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.11191-1000_11191-9 others(15): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | INFO_REALIGN_3_PRIME | chr1 | 12381972 | ||||||
| chr1:12381980 | T | C | 1 | a0001c0001t0004g0139 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.11191-996T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | chr1 | 12381980 | |||||||
| chr1:12381980 | TTC | T | 2 | a0001c0003t0016g0063 a0001c0021t0013g0046 |
2 | HG03540.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.11191-981_11191-98 others(6): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | INFO_REALIGN_3_PRIME | chr1 | 12381980 | ||||||
| chr1:12381982 | C | CTT | 5 | a0001c0006t0003g0009 a0001c0008t0003g0011 a0001c0008t0003g0079 others(2): Show |
5 | HG01243.hp1 HG01255.hp2 HG04115.hp1 others(2): Show |
intron_variant | MODIFIER | c.11191-993_11191-99 others(6): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | INFO_REALIGN_3_PRIME | chr1 | 12381982 | ||||||
| chr1:12381984 | C | T | 3 | a0001c0001t0016g0032 a0005c0010t0008g0070 a0005c0010t0008g0071 |
3 | HG02809.hp2 HG02970.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.11191-992C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | chr1 | 12381984 | |||||||
| chr1:12381986 | C | T | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.11191-990C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | chr1 | 12381986 | |||||||
| chr1:12381993 | T | C | 2 | a0001c0001t0004g0139 a0001c0006t0003g0013 |
2 | HG01993.hp1 NA18977.hp2 |
intron_variant | MODIFIER | c.11191-983T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | chr1 | 12381993 | |||||||
| chr1:12381994 | C | CCT | 9 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(6): Show |
9 | HG01099.hp2 HG01346.hp2 HG01361.hp1 others(6): Show |
intron_variant | MODIFIER | c.11191-982_11191-98 others(6): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | chr1 | 12381994 | |||||||
| chr1:12381994 | C | T | 2 | a0001c0001t0004g0139 a0001c0006t0003g0013 |
2 | HG01993.hp1 NA18977.hp2 |
intron_variant | MODIFIER | c.11191-982C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | chr1 | 12381994 | |||||||
| chr1:12382004 | C | T | 10 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(7): Show |
10 | HG01099.hp2 HG01346.hp2 HG01361.hp1 others(7): Show |
intron_variant | MODIFIER | c.11191-972C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | chr1 | 12382004 | |||||||
| chr1:12382008 | T | C | 10 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(7): Show |
10 | HG01099.hp2 HG01346.hp2 HG01361.hp1 others(7): Show |
intron_variant | MODIFIER | c.11191-968T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | chr1 | 12382008 | |||||||
| chr1:12382008 | T | TCTTC | 5 | a0001c0006t0003g0009 a0001c0008t0003g0011 a0001c0008t0003g0079 others(2): Show |
5 | HG01243.hp1 HG01255.hp2 HG04115.hp1 others(2): Show |
intron_variant | MODIFIER | c.11191-952_11191-94 others(8): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | INFO_REALIGN_3_PRIME | chr1 | 12382008 | ||||||
| chr1:12382033 | C | CTCTT | 3 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 |
3 | HG02717.hp1 HG03195.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.11191-926_11191-92 others(8): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | INFO_REALIGN_3_PRIME | chr1 | 12382033 | ||||||
| chr1:12382066 | T | C | 1 | a0001c0009t0022g0076 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.11191-910T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | chr1 | 12382066 | |||||||
| chr1:12382344 | C | T | 4 | a0001c0001t0004g0136 a0004c0030t0014g0143 a0004c0031t0014g0142 others(1): Show |
4 | HG02717.hp1 HG02738.hp2 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.11191-632C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | chr1 | 12382344 | |||||||
| chr1:12382499 | A | G | 25 | a0001c0001t0010g0120 a0001c0002t0007g0066 a0001c0006t0003g0004 others(22): Show |
25 | HG01099.hp2 HG01243.hp1 HG01243.hp2 others(22): Show |
intron_variant | MODIFIER | c.11191-477A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | chr1 | 12382499 | |||||||
| chr1:12382598 | C | T | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.11191-378C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | chr1 | 12382598 | |||||||
| chr1:12382642 | A | G | 3 | a0001c0001t0012g0119 a0001c0001t0012g0121 a0001c0014t0012g0075 |
3 | HG00408.hp1 HG01256.hp2 HG02004.hp1 |
intron_variant | MODIFIER | c.11191-334A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | chr1 | 12382642 | |||||||
| chr1:12383159 | A | T | 3 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 |
3 | HG02717.hp1 HG03195.hp2 HG03486.hp1 |
splice_region_variant&intron_variant | LOW | c.11370+4A>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 58/69 | chr1 | 12383159 | |||||||
| chr1:12383301 | C | T | 13 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.11370+146C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 58/69 | chr1 | 12383301 | |||||||
| chr1:12383734 | G | A | 1 | a0001c0002t0015g0057 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.11370+579G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 58/69 | chr1 | 12383734 | |||||||
| chr1:12384508 | G | T | 3 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 |
3 | HG02717.hp1 HG03195.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.11371-752G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 58/69 | chr1 | 12384508 | |||||||
| chr1:12385436 | G | C | 1 | a0002c0004t0001g0135 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.11484+63G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 59/69 | chr1 | 12385436 | |||||||
| chr1:12385558 | T | C | 1 | a0002c0004t0001g0081 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.11484+185T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 59/69 | chr1 | 12385558 | |||||||
| chr1:12385563 | AATCAGC | A | 2 | a0001c0001t0001g0108 a0001c0001t0011g0107 |
2 | HG02976.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.11484+193_11484+19 others(10): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 59/69 | INFO_REALIGN_3_PRIME | chr1 | 12385563 | ||||||
| chr1:12386021 | G | A | 13 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.11485-164G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 59/69 | chr1 | 12386021 | |||||||
| chr1:12386550 | C | T | 2 | a0001c0001t0001g0123 a0001c0001t0001g0124 |
2 | HG03486.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.11634+216C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12386550 | |||||||
| chr1:12387211 | C | G | 59 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(56): Show |
59 | HG00408.hp2 HG00438.hp2 HG01106.hp1 others(56): Show |
intron_variant | MODIFIER | c.11634+877C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12387211 | |||||||
| chr1:12387447 | AGGAGACT others(103): Show |
A | 2 | a0001c0001t0001g0091 a0001c0002t0009g0014 |
2 | HG00438.hp2 HG02698.hp2 |
intron_variant | MODIFIER | c.11634+1224_11634+1 others(6): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | INFO_REALIGN_3_PRIME | chr1 | 12387447 | ||||||
| chr1:12387570 | G | A | 4 | a0001c0009t0004g0018 a0001c0009t0008g0017 a0001c0009t0022g0076 others(1): Show |
4 | HG01255.hp2 HG03579.hp1 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.11634+1236G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12387570 | |||||||
| chr1:12387735 | G | C | 1 | a0001c0006t0003g0009 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.11634+1401G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12387735 | |||||||
| chr1:12387817 | A | G | 4 | a0001c0009t0004g0018 a0001c0009t0008g0017 a0001c0009t0022g0076 others(1): Show |
4 | HG01255.hp2 HG03579.hp1 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.11634+1483A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12387817 | |||||||
| chr1:12387885 | A | G | 3 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 |
3 | HG02717.hp1 HG03195.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.11634+1551A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12387885 | |||||||
| chr1:12388270 | G | T | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.11634+1936G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12388270 | |||||||
| chr1:12388343 | G | A | 4 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0013 others(1): Show |
4 | HG01099.hp2 HG01346.hp2 HG01433.hp2 others(1): Show |
intron_variant | MODIFIER | c.11634+2009G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12388343 | |||||||
| chr1:12388391 | G | A | 13 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.11634+2057G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12388391 | |||||||
| chr1:12388467 | G | A | 1 | a0001c0002t0001g0006 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.11634+2133G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12388467 | |||||||
| chr1:12388469 | G | A | 13 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.11634+2135G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12388469 | |||||||
| chr1:12388579 | G | GA | 23 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(20): Show |
23 | HG00408.hp2 HG00438.hp2 HG02056.hp1 others(20): Show |
intron_variant | MODIFIER | c.11634+2259dupA | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | INFO_REALIGN_3_PRIME | chr1 | 12388579 | ||||||
| chr1:12388579 | GA | G | 9 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0013 others(6): Show |
9 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(6): Show |
intron_variant | MODIFIER | c.11634+2259delA | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | INFO_REALIGN_3_PRIME | chr1 | 12388579 | ||||||
| chr1:12388580 | A | G | 1 | a0001c0003t0016g0063 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.11634+2246A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12388580 | |||||||
| chr1:12388828 | C | T | 4 | a0001c0009t0004g0018 a0001c0009t0008g0017 a0001c0009t0022g0076 others(1): Show |
4 | HG01255.hp2 HG03579.hp1 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.11634+2494C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12388828 | |||||||
| chr1:12388876 | C | A | 80 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(77): Show |
80 | HG00408.hp2 HG00438.hp2 HG01099.hp2 others(77): Show |
intron_variant | MODIFIER | c.11634+2542C>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12388876 | |||||||
| chr1:12388902 | A | G | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.11634+2568A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12388902 | |||||||
| chr1:12389227 | G | A | 1 | a0001c0002t0002g0035 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.11634+2893G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12389227 | |||||||
| chr1:12389248 | C | T | 1 | a0001c0009t0022g0076 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.11634+2914C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12389248 | |||||||
| chr1:12389598 | AAAAG | A | 13 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.11634+3270_11634+3 others(10): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | INFO_REALIGN_3_PRIME | chr1 | 12389598 | ||||||
| chr1:12389743 | T | G | 4 | a0001c0009t0004g0018 a0001c0009t0008g0017 a0001c0009t0022g0076 others(1): Show |
4 | HG01255.hp2 HG03579.hp1 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.11634+3409T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12389743 | |||||||
| chr1:12389857 | G | A | 3 | a0001c0001t0015g0069 a0001c0002t0004g0047 a0001c0002t0015g0057 |
3 | HG01106.hp1 HG03098.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.11634+3523G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12389857 | |||||||
| chr1:12389950 | T | G | 1 | a0001c0001t0002g0140 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.11634+3616T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12389950 | |||||||
| chr1:12390022 | G | A | 1 | a0018c0015t0024g0001 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.11634+3688G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12390022 | |||||||
| chr1:12390363 | A | T | 1 | a0001c0005t0001g0132 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.11634+4029A>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12390363 | |||||||
| chr1:12390526 | T | C | 2 | a0001c0001t0001g0125 a0001c0001t0004g0139 |
2 | HG02523.hp2 NA18977.hp2 |
intron_variant | MODIFIER | c.11634+4192T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12390526 | |||||||
| chr1:12390770 | G | T | 86 | a0001c0001t0001g0037 a0001c0001t0002g0034 a0001c0001t0002g0038 others(83): Show |
86 | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(83): Show |
intron_variant | MODIFIER | c.11634+4436G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12390770 | |||||||
| chr1:12391157 | T | C | 1 | a0001c0006t0010g0003 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.11634+4823T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12391157 | |||||||
| chr1:12391364 | C | T | 2 | a0001c0001t0001g0125 a0001c0001t0004g0139 |
2 | HG02523.hp2 NA18977.hp2 |
intron_variant | MODIFIER | c.11634+5030C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12391364 | |||||||
| chr1:12391503 | T | TC | 85 | a0001c0001t0001g0037 a0001c0001t0002g0034 a0001c0001t0002g0038 others(82): Show |
85 | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(82): Show |
intron_variant | MODIFIER | c.11634+5170dupC | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | INFO_REALIGN_3_PRIME | chr1 | 12391503 | ||||||
| chr1:12391532 | G | A | 3 | a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0021g0122 |
3 | HG02572.hp1 HG03486.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.11634+5198G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12391532 | |||||||
| chr1:12391565 | A | G | 3 | a0001c0001t0015g0069 a0001c0002t0004g0047 a0001c0002t0015g0057 |
3 | HG01106.hp1 HG03098.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.11634+5231A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12391565 | |||||||
| chr1:12391656 | C | T | 1 | a0015c0016t0026g0149 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.11634+5322C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12391656 | |||||||
| chr1:12391800 | A | G | 22 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(19): Show |
22 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(19): Show |
intron_variant | MODIFIER | c.11634+5466A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12391800 | |||||||
| chr1:12391930 | G | A | 3 | a0001c0005t0002g0059 a0001c0005t0002g0062 a0001c0005t0004g0060 |
3 | HG01884.hp2 HG02486.hp2 HG02572.hp2 |
intron_variant | MODIFIER | c.11634+5596G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12391930 | |||||||
| chr1:12392061 | C | T | 1 | a0001c0002t0008g0044 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.11634+5727C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12392061 | |||||||
| chr1:12392128 | C | T | 1 | a0001c0001t0001g0037 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.11634+5794C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12392128 | |||||||
| chr1:12392189 | A | G | 1 | a0018c0015t0024g0001 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.11634+5855A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12392189 | |||||||
| chr1:12392219 | C | T | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.11634+5885C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12392219 | |||||||
| chr1:12392545 | TA | T | 67 | a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0002g0034 others(64): Show |
67 | HG00408.hp2 HG00438.hp2 HG01099.hp2 others(64): Show |
intron_variant | MODIFIER | c.11634+6230delA | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | INFO_REALIGN_3_PRIME | chr1 | 12392545 | ||||||
| chr1:12392572 | C | G | 3 | a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0021g0122 |
3 | HG02572.hp1 HG03486.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.11634+6238C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12392572 | |||||||
| chr1:12392936 | T | C | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.11634+6602T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12392936 | |||||||
| chr1:12392942 | G | A | 2 | a0001c0001t0001g0108 a0001c0001t0011g0107 |
2 | HG02976.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.11634+6608G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12392942 | |||||||
| chr1:12393008 | A | C | 21 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(18): Show |
21 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(18): Show |
intron_variant | MODIFIER | c.11634+6674A>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12393008 | |||||||
| chr1:12393380 | A | G | 13 | a0001c0001t0002g0064 a0001c0001t0009g0027 a0001c0002t0002g0024 others(10): Show |
13 | HG00408.hp2 HG00438.hp2 HG02165.hp1 others(10): Show |
intron_variant | MODIFIER | c.11635-6801A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12393380 | |||||||
| chr1:12393410 | A | G | 1 | a0001c0001t0001g0022 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.11635-6771A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12393410 | |||||||
| chr1:12393584 | C | T | 16 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(13): Show |
16 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(13): Show |
intron_variant | MODIFIER | c.11635-6597C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12393584 | |||||||
| chr1:12393981 | A | G | 1 | a0001c0001t0016g0032 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.11635-6200A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12393981 | |||||||
| chr1:12394109 | C | T | 1 | a0001c0001t0002g0140 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.11635-6072C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12394109 | |||||||
| chr1:12394124 | A | G | 3 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 |
3 | HG02717.hp1 HG03195.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.11635-6057A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12394124 | |||||||
| chr1:12394169 | C | T | 1 | a0001c0001t0001g0087 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.11635-6012C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12394169 | |||||||
| chr1:12394196 | T | C | 1 | a0001c0001t0006g0138 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.11635-5985T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12394196 | |||||||
| chr1:12394232 | T | C | 3 | a0001c0002t0007g0066 a0001c0012t0002g0074 a0001c0012t0008g0067 |
3 | HG01243.hp2 HG02622.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.11635-5949T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12394232 | |||||||
| chr1:12394238 | T | C | 1 | a0001c0024t0001g0127 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.11635-5943T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12394238 | |||||||
| chr1:12394328 | C | T | 2 | a0001c0001t0001g0109 a0001c0001t0001g0110 |
2 | NA18971.hp1 NA19063.hp2 |
intron_variant | MODIFIER | c.11635-5853C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12394328 | |||||||
| chr1:12394539 | C | T | 2 | a0001c0001t0001g0037 a0001c0002t0002g0045 |
2 | HG02165.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.11635-5642C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12394539 | |||||||
| chr1:12394844 | A | C | 4 | a0001c0009t0004g0018 a0001c0009t0008g0017 a0001c0009t0022g0076 others(1): Show |
4 | HG01255.hp2 HG03579.hp1 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.11635-5337A>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12394844 | |||||||
| chr1:12395100 | TG | T | 13 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.11635-5076delG | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | INFO_REALIGN_3_PRIME | chr1 | 12395100 | ||||||
| chr1:12395434 | C | T | 1 | a0001c0002t0008g0044 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.11635-4747C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12395434 | |||||||
| chr1:12395487 | T | C | 1 | a0003c0007t0007g0154 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.11635-4694T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12395487 | |||||||
| chr1:12395574 | T | C | 1 | a0014c0020t0023g0077 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.11635-4607T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12395574 | |||||||
| chr1:12395736 | G | C | 13 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.11635-4445G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12395736 | |||||||
| chr1:12395783 | C | T | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.11635-4398C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12395783 | |||||||
| chr1:12395923 | T | C | 1 | a0006c0025t0003g0005 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.11635-4258T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12395923 | |||||||
| chr1:12395996 | G | GAT | 8 | a0001c0001t0001g0023 a0001c0001t0001g0088 a0001c0001t0001g0092 others(5): Show |
8 | HG01891.hp1 HG02083.hp1 HG02523.hp2 others(5): Show |
intron_variant | MODIFIER | c.11635-4153_11635-4 others(8): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | INFO_REALIGN_3_PRIME | chr1 | 12395996 | ||||||
| chr1:12395996 | G | GATAT | 9 | a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0004g0126 others(6): Show |
9 | HG00438.hp1 HG01071.hp2 HG01109.hp2 others(6): Show |
intron_variant | MODIFIER | c.11635-4155_11635-4 others(10): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | INFO_REALIGN_3_PRIME | chr1 | 12395996 | ||||||
| chr1:12395996 | G | GATATAGA others(31): Show |
1 | a0001c0013t0001g0073 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.11635-4180_11635-4 others(44): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | INFO_REALIGN_3_PRIME | chr1 | 12395996 | ||||||
| chr1:12395996 | G | GATATAGA others(41): Show |
1 | a0001c0013t0001g0065 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.11635-4180_11635-4 others(54): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | INFO_REALIGN_3_PRIME | chr1 | 12395996 | ||||||
| chr1:12395996 | G | GATATAT | 5 | a0001c0001t0004g0082 a0002c0004t0001g0081 a0002c0004t0001g0095 others(2): Show |
5 | HG01099.hp1 HG01928.hp2 HG02735.hp2 others(2): Show |
intron_variant | MODIFIER | c.11635-4157_11635-4 others(12): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | INFO_REALIGN_3_PRIME | chr1 | 12395996 | ||||||
| chr1:12395996 | G | GATATATA others(1): Show |
3 | a0001c0014t0012g0075 a0002c0004t0001g0094 a0017c0019t0001g0093 |
3 | HG00408.hp1 HG01071.hp1 NA19066.hp2 |
intron_variant | MODIFIER | c.11635-4159_11635-4 others(14): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | INFO_REALIGN_3_PRIME | chr1 | 12395996 | ||||||
| chr1:12395996 | G | GATATATA others(3): Show |
5 | a0001c0001t0001g0019 a0001c0001t0006g0137 a0001c0012t0002g0074 others(2): Show |
5 | HG01243.hp2 HG02486.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.11635-4161_11635-4 others(16): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | INFO_REALIGN_3_PRIME | chr1 | 12395996 | ||||||
| chr1:12395996 | G | GATATATA others(5): Show |
3 | a0001c0001t0006g0130 a0001c0001t0006g0131 a0001c0001t0012g0119 |
3 | HG01256.hp2 HG01993.hp2 HG02004.hp2 |
intron_variant | MODIFIER | c.11635-4163_11635-4 others(18): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | INFO_REALIGN_3_PRIME | chr1 | 12395996 | ||||||
| chr1:12395996 | G | GATATATA others(7): Show |
2 | a0001c0002t0007g0066 a0002c0004t0025g0118 |
2 | HG02622.hp2 NA18947.hp2 |
intron_variant | MODIFIER | c.11635-4165_11635-4 others(20): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | INFO_REALIGN_3_PRIME | chr1 | 12395996 | ||||||
| chr1:12395996 | G | GATATATA others(9): Show |
1 | a0002c0004t0001g0090 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.11635-4167_11635-4 others(22): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | INFO_REALIGN_3_PRIME | chr1 | 12395996 | ||||||
| chr1:12395996 | G | GATATATA others(11): Show |
2 | a0001c0001t0012g0121 a0001c0001t0021g0122 |
2 | HG02004.hp1 HG02572.hp1 |
intron_variant | MODIFIER | c.11635-4169_11635-4 others(24): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | INFO_REALIGN_3_PRIME | chr1 | 12395996 | ||||||
| chr1:12395996 | GATAT | G | 2 | a0001c0008t0003g0012 a0018c0015t0024g0001 |
2 | HG01361.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.11635-4155_11635-4 others(10): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | INFO_REALIGN_3_PRIME | chr1 | 12395996 | ||||||
| chr1:12395996 | GATATATA others(3): Show |
G | 1 | a0001c0001t0002g0064 | 1 | NA19001.hp1 | intron_variant | MODIFIER | c.11635-4161_11635-4 others(16): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | INFO_REALIGN_3_PRIME | chr1 | 12395996 | ||||||
| chr1:12395996 | GATATATA others(5): Show |
G | 2 | a0001c0001t0001g0123 a0001c0001t0001g0124 |
2 | HG03486.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.11635-4163_11635-4 others(18): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | INFO_REALIGN_3_PRIME | chr1 | 12395996 | ||||||
| chr1:12396025 | A | G | 3 | a0001c0008t0003g0012 a0001c0009t0004g0018 a0001c0009t0008g0017 |
3 | HG01361.hp1 HG03579.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.11635-4156A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12396025 | |||||||
| chr1:12396029 | A | ATATATAT others(35): Show |
2 | a0003c0007t0007g0150 a0003c0007t0007g0152 |
2 | HG01109.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.11635-4152_11635-4 others(48): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12396029 | |||||||
| chr1:12396029 | A | ATATATAT others(37): Show |
1 | a0001c0008t0003g0079 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.11635-4152_11635-4 others(50): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12396029 | |||||||
| chr1:12396029 | A | ATATATAT others(33): Show |
1 | a0001c0003t0002g0056 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.11635-4152_11635-4 others(46): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12396029 | |||||||
| chr1:12396029 | A | ATATATAT others(31): Show |
1 | a0001c0003t0002g0055 | 1 | NA19070.hp2 | intron_variant | MODIFIER | c.11635-4152_11635-4 others(44): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12396029 | |||||||
| chr1:12396029 | A | ATATATAT others(29): Show |
3 | a0001c0001t0002g0140 a0001c0005t0002g0059 a0003c0007t0007g0151 |
3 | HG02572.hp2 HG02622.hp1 HG02895.hp2 |
intron_variant | MODIFIER | c.11635-4152_11635-4 others(42): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12396029 | |||||||
| chr1:12396029 | A | ATATATAT others(27): Show |
1 | a0001c0001t0015g0069 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.11635-4152_11635-4 others(40): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12396029 | |||||||
| chr1:12396029 | A | ATATATAT others(25): Show |
3 | a0001c0002t0002g0045 a0003c0007t0007g0154 a0007c0029t0011g0144 |
3 | HG01891.hp2 HG02165.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.11635-4152_11635-4 others(38): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12396029 | |||||||
| chr1:12396029 | A | ATATATAT others(27): Show |
2 | a0001c0008t0003g0008 a0001c0009t0022g0076 |
2 | HG01255.hp2 HG01928.hp1 |
intron_variant | MODIFIER | c.11635-4152_11635-4 others(40): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12396029 | |||||||
| chr1:12396029 | A | ATATATAT others(23): Show |
5 | a0001c0002t0002g0039 a0001c0002t0008g0044 a0001c0003t0005g0050 others(2): Show |
5 | HG02071.hp2 HG02523.hp1 NA18906.hp1 others(2): Show |
intron_variant | MODIFIER | c.11635-4152_11635-4 others(36): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12396029 | |||||||
| chr1:12396029 | A | ATATATAT others(25): Show |
1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.11635-4152_11635-4 others(38): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12396029 | |||||||
| chr1:12396029 | A | ATATATAT others(21): Show |
2 | a0001c0002t0015g0057 a0001c0003t0005g0052 |
2 | HG03516.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.11635-4152_11635-4 others(34): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12396029 | |||||||
| chr1:12396029 | A | ATATATAT others(23): Show |
2 | a0006c0025t0003g0005 a0014c0020t0023g0077 |
2 | HG01433.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.11635-4152_11635-4 others(36): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12396029 | |||||||
| chr1:12396029 | A | ATATATAT others(19): Show |
1 | a0003c0007t0007g0153 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.11635-4152_11635-4 others(32): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12396029 | |||||||
| chr1:12396029 | A | ATATATAT others(21): Show |
1 | a0001c0008t0003g0011 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.11635-4152_11635-4 others(34): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12396029 | |||||||
| chr1:12396029 | A | ATATATAT others(17): Show |
2 | a0001c0003t0005g0048 a0001c0003t0005g0049 |
2 | HG01346.hp1 HG02273.hp1 |
intron_variant | MODIFIER | c.11635-4152_11635-4 others(30): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12396029 | |||||||
| chr1:12396029 | A | ATATATAT others(19): Show |
1 | a0001c0006t0003g0004 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.11635-4152_11635-4 others(32): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12396029 | |||||||
| chr1:12396029 | A | ATATATAT others(15): Show |
3 | a0001c0001t0002g0038 a0001c0003t0005g0053 a0004c0031t0014g0142 |
3 | HG01256.hp1 HG02735.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.11635-4152_11635-4 others(28): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12396029 | |||||||
| chr1:12396029 | A | ATATATAT others(17): Show |
2 | a0001c0006t0003g0007 a0001c0006t0003g0013 |
2 | HG01346.hp2 HG01993.hp1 |
intron_variant | MODIFIER | c.11635-4152_11635-4 others(30): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12396029 | |||||||
| chr1:12396029 | A | ATATATAT others(13): Show |
4 | a0001c0003t0001g0058 a0001c0011t0011g0016 a0004c0030t0014g0143 others(1): Show |
4 | HG02717.hp1 HG02895.hp1 HG02965.hp2 others(1): Show |
intron_variant | MODIFIER | c.11635-4152_11635-4 others(26): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12396029 | |||||||
| chr1:12396029 | A | ATATATAT others(11): Show |
4 | a0001c0001t0002g0034 a0001c0005t0004g0060 a0001c0011t0018g0015 others(1): Show |
4 | HG01884.hp2 HG03225.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.11635-4152_11635-4 others(24): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12396029 | |||||||
| chr1:12396029 | A | ATATATAT others(9): Show |
5 | a0001c0001t0002g0042 a0001c0002t0002g0040 a0001c0002t0002g0041 others(2): Show |
5 | HG03017.hp1 HG03486.hp1 HG03491.hp2 others(2): Show |
intron_variant | MODIFIER | c.11635-4152_11635-4 others(22): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12396029 | |||||||
| chr1:12396029 | A | ATATATAT others(7): Show |
3 | a0001c0002t0001g0089 a0001c0005t0002g0062 a0001c0005t0002g0068 |
3 | HG02486.hp2 HG02809.hp1 HG04115.hp2 |
intron_variant | MODIFIER | c.11635-4152_11635-4 others(20): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12396029 | |||||||
| chr1:12396029 | A | ATATATAT others(9): Show |
1 | a0001c0006t0010g0010 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.11635-4152_11635-4 others(22): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12396029 | |||||||
| chr1:12396029 | A | ATATATAT others(5): Show |
1 | a0001c0002t0027g0031 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.11635-4152_11635-4 others(18): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12396029 | |||||||
| chr1:12396029 | A | ATATATAT others(7): Show |
1 | a0001c0008t0003g0002 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.11635-4152_11635-4 others(20): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12396029 | |||||||
| chr1:12396029 | A | ATATATAT others(3): Show |
9 | a0001c0001t0002g0043 a0001c0001t0009g0027 a0001c0002t0002g0028 others(6): Show |
9 | HG00408.hp2 HG00438.hp2 HG02738.hp1 others(6): Show |
intron_variant | MODIFIER | c.11635-4152_11635-4 others(16): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12396029 | |||||||
| chr1:12396029 | A | ATATATAT others(5): Show |
2 | a0001c0001t0010g0120 a0001c0006t0003g0009 |
2 | HG03492.hp2 NA18947.hp1 |
intron_variant | MODIFIER | c.11635-4152_11635-4 others(18): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12396029 | |||||||
| chr1:12396029 | A | ATATATAT others(1): Show |
2 | a0001c0002t0002g0024 a0001c0005t0004g0111 |
2 | HG02683.hp2 NA19012.hp2 |
intron_variant | MODIFIER | c.11635-4152_11635-4 others(14): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12396029 | |||||||
| chr1:12396029 | A | ATATATGT others(3): Show |
1 | a0001c0006t0010g0003 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.11635-4152_11635-4 others(16): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12396029 | |||||||
| chr1:12396029 | A | T | 9 | a0001c0001t0002g0064 a0001c0002t0002g0035 a0001c0008t0003g0012 others(6): Show |
9 | HG01361.hp1 HG02056.hp1 HG03195.hp1 others(6): Show |
intron_variant | MODIFIER | c.11635-4152A>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12396029 | |||||||
| chr1:12396783 | A | G | 1 | a0001c0001t0001g0108 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.11635-3398A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12396783 | |||||||
| chr1:12396918 | A | G | 2 | a0001c0013t0001g0065 a0001c0013t0001g0073 |
2 | HG03195.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.11635-3263A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12396918 | |||||||
| chr1:12396934 | T | C | 4 | a0001c0009t0004g0018 a0001c0009t0008g0017 a0001c0009t0022g0076 others(1): Show |
4 | HG01255.hp2 HG03579.hp1 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.11635-3247T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12396934 | |||||||
| chr1:12396991 | T | C | 2 | a0001c0001t0001g0019 a0001c0001t0001g0022 |
2 | HG01433.hp1 HG02486.hp1 |
intron_variant | MODIFIER | c.11635-3190T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12396991 | |||||||
| chr1:12397014 | A | G | 2 | a0002c0004t0001g0090 a0002c0032t0001g0021 |
2 | HG02683.hp1 HG02735.hp2 |
intron_variant | MODIFIER | c.11635-3167A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12397014 | |||||||
| chr1:12397076 | G | A | 1 | a0001c0006t0003g0007 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.11635-3105G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12397076 | |||||||
| chr1:12397079 | G | A | 1 | a0001c0009t0022g0076 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.11635-3102G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12397079 | |||||||
| chr1:12397082 | C | T | 1 | a0001c0001t0001g0037 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.11635-3099C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12397082 | |||||||
| chr1:12397109 | T | G | 13 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.11635-3072T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12397109 | |||||||
| chr1:12397370 | C | T | 2 | a0001c0009t0004g0018 a0001c0009t0008g0017 |
2 | HG03579.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.11635-2811C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12397370 | |||||||
| chr1:12397519 | A | G | 2 | a0001c0001t0001g0123 a0001c0001t0001g0124 |
2 | HG03486.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.11635-2662A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12397519 | |||||||
| chr1:12397902 | A | G | 2 | a0001c0001t0002g0043 a0001c0001t0002g0072 |
2 | HG02083.hp2 NA18959.hp2 |
intron_variant | MODIFIER | c.11635-2279A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12397902 | |||||||
| chr1:12398207 | A | G | 21 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(18): Show |
21 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(18): Show |
intron_variant | MODIFIER | c.11635-1974A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12398207 | |||||||
| chr1:12398343 | A | C | 1 | a0018c0015t0024g0001 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.11635-1838A>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12398343 | |||||||
| chr1:12398515 | C | G | 2 | a0001c0009t0022g0076 a0014c0020t0023g0077 |
2 | HG01255.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.11635-1666C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12398515 | |||||||
| chr1:12398636 | A | G | 1 | a0001c0014t0012g0075 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.11635-1545A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12398636 | |||||||
| chr1:12398740 | G | A | 81 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(78): Show |
81 | HG00408.hp2 HG00438.hp2 HG01099.hp2 others(78): Show |
intron_variant | MODIFIER | c.11635-1441G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12398740 | |||||||
| chr1:12398931 | C | T | 1 | a0001c0001t0001g0134 | 1 | NA19001.hp2 | intron_variant | MODIFIER | c.11635-1250C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12398931 | |||||||
| chr1:12398934 | G | A | 13 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.11635-1247G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12398934 | |||||||
| chr1:12399041 | C | T | 1 | a0002c0004t0025g0118 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.11635-1140C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12399041 | |||||||
| chr1:12399198 | ATTTTTTT others(5): Show |
A | 1 | a0001c0001t0020g0078 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.11635-978_11635-96 others(16): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | INFO_REALIGN_3_PRIME | chr1 | 12399198 | ||||||
| chr1:12399347 | C | T | 2 | a0001c0001t0001g0084 a0001c0001t0001g0114 |
2 | HG02132.hp1 HG02165.hp2 |
intron_variant | MODIFIER | c.11635-834C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12399347 | |||||||
| chr1:12399438 | G | A | 1 | a0001c0001t0001g0116 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.11635-743G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12399438 | |||||||
| chr1:12399444 | C | T | 3 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 |
3 | HG02717.hp1 HG03195.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.11635-737C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12399444 | |||||||
| chr1:12399445 | G | A | 1 | a0001c0001t0001g0106 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.11635-736G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12399445 | |||||||
| chr1:12399676 | G | A | 1 | a0001c0024t0001g0127 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.11635-505G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12399676 | |||||||
| chr1:12399678 | GCATAGTG others(92): Show |
G | 3 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 |
3 | HG02717.hp1 HG03195.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.11635-500_11635-40 others(103): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | INFO_REALIGN_3_PRIME | chr1 | 12399678 | ||||||
| chr1:12399733 | C | T | 1 | a0001c0006t0003g0009 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.11635-448C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12399733 | |||||||
| chr1:12399945 | G | C | 21 | a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 others(18): Show |
21 | HG01071.hp1 HG01099.hp1 HG01255.hp1 others(18): Show |
intron_variant | MODIFIER | c.11635-236G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | 12399945 | |||||||
| chr1:12400466 | T | G | 1 | a0001c0001t0020g0078 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.11784+136T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 61/69 | chr1 | 12400466 | |||||||
| chr1:12400555 | A | C | 1 | a0017c0019t0001g0093 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.11784+225A>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 61/69 | chr1 | 12400555 | |||||||
| chr1:12400610 | T | G | 1 | a0018c0015t0024g0001 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.11784+280T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 61/69 | chr1 | 12400610 | |||||||
| chr1:12400771 | G | A | 3 | a0001c0001t0015g0069 a0001c0002t0004g0047 a0001c0002t0015g0057 |
3 | HG01106.hp1 HG03098.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.11784+441G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 61/69 | chr1 | 12400771 | |||||||
| chr1:12400953 | T | TGC | 4 | a0001c0008t0003g0008 a0001c0008t0003g0011 a0001c0008t0003g0012 others(1): Show |
4 | HG01243.hp1 HG01361.hp1 HG01928.hp1 others(1): Show |
intron_variant | MODIFIER | c.11784+632_11784+63 others(6): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 61/69 | INFO_REALIGN_3_PRIME | chr1 | 12400953 | ||||||
| chr1:12400953 | TGC | T | 24 | a0001c0001t0001g0088 a0001c0001t0001g0106 a0001c0001t0001g0113 others(21): Show |
24 | HG00438.hp2 HG01071.hp1 HG01099.hp1 others(21): Show |
intron_variant | MODIFIER | c.11784+632_11784+63 others(6): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 61/69 | INFO_REALIGN_3_PRIME | chr1 | 12400953 | ||||||
| chr1:12400953 | TGCGC | T | 11 | a0001c0003t0005g0048 a0001c0003t0005g0049 a0001c0005t0002g0059 others(8): Show |
11 | HG01243.hp2 HG01346.hp1 HG01884.hp1 others(8): Show |
intron_variant | MODIFIER | c.11784+630_11784+63 others(8): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 61/69 | INFO_REALIGN_3_PRIME | chr1 | 12400953 | ||||||
| chr1:12400958 | G | GCA | 7 | a0001c0001t0002g0043 a0001c0002t0002g0040 a0001c0002t0002g0041 others(4): Show |
7 | HG01109.hp1 HG03491.hp2 HG03492.hp1 others(4): Show |
intron_variant | MODIFIER | c.11784+629_11784+63 others(6): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 61/69 | INFO_REALIGN_3_PRIME | chr1 | 12400958 | ||||||
| chr1:12400958 | G | GCACA | 3 | a0001c0001t0009g0027 a0001c0002t0002g0028 a0001c0003t0005g0053 |
3 | HG00408.hp2 HG01256.hp1 NA19079.hp1 |
intron_variant | MODIFIER | c.11784+629_11784+63 others(8): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 61/69 | INFO_REALIGN_3_PRIME | chr1 | 12400958 | ||||||
| chr1:12400958 | G | GCACACA | 6 | a0001c0001t0002g0064 a0001c0002t0002g0045 a0001c0002t0007g0066 others(3): Show |
6 | HG02165.hp1 HG02622.hp2 HG02965.hp2 others(3): Show |
intron_variant | MODIFIER | c.11784+629_11784+63 others(10): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 61/69 | INFO_REALIGN_3_PRIME | chr1 | 12400958 | ||||||
| chr1:12400958 | G | GCACACAC others(1): Show |
2 | a0001c0001t0002g0042 a0001c0002t0002g0039 |
2 | HG02523.hp1 HG03017.hp1 |
intron_variant | MODIFIER | c.11784+629_11784+63 others(12): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 61/69 | INFO_REALIGN_3_PRIME | chr1 | 12400958 | ||||||
| chr1:12400958 | GCGCGCAC others(13): Show |
G | 2 | a0001c0002t0002g0029 a0001c0002t0027g0031 |
2 | NA19057.hp1 NA19068.hp1 |
intron_variant | MODIFIER | c.11784+630_11785-62 others(24): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 61/69 | INFO_REALIGN_3_PRIME | chr1 | 12400958 | ||||||
| chr1:12400960 | G | A | 28 | a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0064 others(25): Show |
28 | HG00408.hp2 HG01109.hp1 HG01256.hp1 others(25): Show |
intron_variant | MODIFIER | c.11784+630G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 61/69 | chr1 | 12400960 | |||||||
| chr1:12400960 | G | GCA | 11 | a0001c0001t0001g0023 a0001c0001t0001g0087 a0001c0001t0001g0116 others(8): Show |
11 | HG00408.hp1 HG01255.hp1 HG01256.hp2 others(8): Show |
intron_variant | MODIFIER | c.11784+631_11784+63 others(6): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 61/69 | INFO_REALIGN_3_PRIME | chr1 | 12400960 | ||||||
| chr1:12400960 | G | GCACA | 4 | a0001c0001t0001g0022 a0001c0002t0001g0099 a0002c0004t0001g0090 others(1): Show |
4 | HG01433.hp1 HG02683.hp1 NA19240.hp2 others(1): Show |
intron_variant | MODIFIER | c.11784+631_11784+63 others(8): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 61/69 | INFO_REALIGN_3_PRIME | chr1 | 12400960 | ||||||
| chr1:12400960 | G | GCACACA | 2 | a0001c0001t0001g0108 a0001c0001t0002g0038 |
2 | HG02735.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.11784+631_11784+63 others(10): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 61/69 | INFO_REALIGN_3_PRIME | chr1 | 12400960 | ||||||
| chr1:12400960 | G | GCACACAC others(1): Show |
5 | a0001c0001t0001g0037 a0001c0001t0002g0034 a0001c0001t0011g0107 others(2): Show |
5 | HG02056.hp1 HG02071.hp2 HG02965.hp1 others(2): Show |
intron_variant | MODIFIER | c.11784+631_11784+63 others(12): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 61/69 | INFO_REALIGN_3_PRIME | chr1 | 12400960 | ||||||
| chr1:12400960 | G | GCACACAC others(3): Show |
2 | a0001c0001t0001g0085 a0001c0001t0015g0069 |
2 | HG01106.hp1 HG01106.hp2 |
intron_variant | MODIFIER | c.11784+631_11784+63 others(14): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 61/69 | INFO_REALIGN_3_PRIME | chr1 | 12400960 | ||||||
| chr1:12400960 | GCGCA | G | 12 | a0001c0001t0001g0019 a0001c0001t0001g0091 a0001c0001t0001g0092 others(9): Show |
12 | HG00438.hp1 HG01109.hp2 HG02486.hp1 others(9): Show |
intron_variant | MODIFIER | c.11784+632_11784+63 others(8): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 61/69 | INFO_REALIGN_3_PRIME | chr1 | 12400960 | ||||||
| chr1:12400960 | GCGCACA | G | 3 | a0001c0001t0001g0112 a0001c0001t0020g0078 a0002c0004t0001g0103 |
3 | HG02273.hp2 HG02717.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.11784+632_11784+63 others(10): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 61/69 | INFO_REALIGN_3_PRIME | chr1 | 12400960 | ||||||
| chr1:12400962 | G | A | 69 | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0037 others(66): Show |
69 | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(66): Show |
intron_variant | MODIFIER | c.11784+632G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 61/69 | chr1 | 12400962 | |||||||
| chr1:12400962 | G | GCA | 9 | a0001c0001t0001g0117 a0001c0001t0004g0082 a0001c0006t0003g0004 others(6): Show |
9 | HG01099.hp2 HG01346.hp2 HG01433.hp2 others(6): Show |
intron_variant | MODIFIER | c.11785-605_11785-60 others(6): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 61/69 | INFO_REALIGN_3_PRIME | chr1 | 12400962 | ||||||
| chr1:12400962 | G | GCACACA | 2 | a0001c0002t0001g0006 a0001c0024t0001g0127 |
2 | HG01943.hp1 HG02300.hp1 |
intron_variant | MODIFIER | c.11785-609_11785-60 others(10): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 61/69 | INFO_REALIGN_3_PRIME | chr1 | 12400962 | ||||||
| chr1:12400962 | G | GCACACAC others(1): Show |
2 | a0001c0001t0010g0120 a0001c0008t0003g0002 |
2 | HG02132.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.11785-611_11785-60 others(12): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 61/69 | INFO_REALIGN_3_PRIME | chr1 | 12400962 | ||||||
| chr1:12400962 | G | GCACACAC others(3): Show |
2 | a0001c0006t0003g0009 a0001c0006t0010g0003 |
2 | HG02698.hp1 NA18947.hp1 |
intron_variant | MODIFIER | c.11785-613_11785-60 others(14): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 61/69 | INFO_REALIGN_3_PRIME | chr1 | 12400962 | ||||||
| chr1:12400962 | G | GCACACAC others(5): Show |
1 | a0001c0006t0010g0010 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.11785-615_11785-60 others(16): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 61/69 | INFO_REALIGN_3_PRIME | chr1 | 12400962 | ||||||
| chr1:12400962 | G | GCGCACGC others(5): Show |
1 | a0001c0009t0008g0017 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.11784+633_11784+63 others(16): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 61/69 | INFO_REALIGN_3_PRIME | chr1 | 12400962 | ||||||
| chr1:12400962 | G | GCGCGCAC others(3): Show |
1 | a0014c0020t0023g0077 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.11784+633_11784+63 others(14): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 61/69 | INFO_REALIGN_3_PRIME | chr1 | 12400962 | ||||||
| chr1:12400962 | GCACACAC others(1): Show |
G | 6 | a0001c0001t0006g0130 a0001c0001t0006g0131 a0001c0001t0006g0138 others(3): Show |
6 | HG01361.hp2 HG01928.hp2 HG01993.hp2 others(3): Show |
intron_variant | MODIFIER | c.11785-611_11785-60 others(12): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 61/69 | INFO_REALIGN_3_PRIME | chr1 | 12400962 | ||||||
| chr1:12400962 | GCACACAC others(3): Show |
G | 1 | a0004c0030t0014g0143 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.11785-613_11785-60 others(14): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 61/69 | INFO_REALIGN_3_PRIME | chr1 | 12400962 | ||||||
| chr1:12400964 | A | G | 1 | a0001c0009t0022g0076 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.11784+634A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 61/69 | chr1 | 12400964 | |||||||
| chr1:12400970 | A | G | 1 | a0012c0028t0013g0141 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.11785-638A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 61/69 | chr1 | 12400970 | |||||||
| chr1:12400972 | A | G | 3 | a0001c0021t0013g0046 a0004c0031t0014g0142 a0012c0028t0013g0141 |
3 | HG03195.hp2 HG03486.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.11785-636A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 61/69 | chr1 | 12400972 | |||||||
| chr1:12400974 | A | G | 2 | a0001c0021t0013g0046 a0004c0030t0014g0143 |
2 | HG02717.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.11785-634A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 61/69 | chr1 | 12400974 | |||||||
| chr1:12400976 | A | G | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.11785-632A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 61/69 | chr1 | 12400976 | |||||||
| chr1:12400978 | A | G | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.11785-630A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 61/69 | chr1 | 12400978 | |||||||
| chr1:12401031 | T | C | 3 | a0001c0002t0007g0066 a0001c0012t0002g0074 a0001c0012t0008g0067 |
3 | HG01243.hp2 HG02622.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.11785-577T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 61/69 | chr1 | 12401031 | |||||||
| chr1:12402062 | A | T | 2 | a0001c0012t0002g0074 a0001c0012t0008g0067 |
2 | HG01243.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.11881+358A>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 62/69 | chr1 | 12402062 | |||||||
| chr1:12402073 | C | A | 21 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(18): Show |
21 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(18): Show |
intron_variant | MODIFIER | c.11881+369C>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 62/69 | chr1 | 12402073 | |||||||
| chr1:12402417 | A | T | 1 | a0001c0001t0001g0104 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.11881+713A>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 62/69 | chr1 | 12402417 | |||||||
| chr1:12403020 | A | G | 24 | a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 others(21): Show |
24 | HG00438.hp1 HG01071.hp2 HG01109.hp2 others(21): Show |
intron_variant | MODIFIER | c.11882-805A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 62/69 | chr1 | 12403020 | |||||||
| chr1:12403117 | C | G | 1 | a0001c0001t0001g0019 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.11882-708C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 62/69 | chr1 | 12403117 | |||||||
| chr1:12403142 | G | A | 1 | a0001c0002t0004g0047 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.11882-683G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 62/69 | chr1 | 12403142 | |||||||
| chr1:12403402 | G | A | 1 | a0001c0001t0001g0124 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.11882-423G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 62/69 | chr1 | 12403402 | |||||||
| chr1:12403448 | C | T | 3 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 |
3 | HG02717.hp1 HG03195.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.11882-377C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 62/69 | chr1 | 12403448 | |||||||
| chr1:12403614 | C | CT | 13 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.11882-205dupT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 62/69 | INFO_REALIGN_3_PRIME | chr1 | 12403614 | ||||||
| chr1:12404166 | T | TA | 9 | a0001c0002t0002g0024 a0001c0003t0005g0048 a0001c0003t0005g0049 others(6): Show |
9 | HG01256.hp1 HG01346.hp1 HG02273.hp1 others(6): Show |
intron_variant | MODIFIER | c.12030+209dupA | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | INFO_REALIGN_3_PRIME | chr1 | 12404166 | ||||||
| chr1:12404578 | T | G | 1 | a0018c0015t0024g0001 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.12030+605T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12404578 | |||||||
| chr1:12405046 | A | G | 1 | a0001c0009t0008g0017 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.12030+1073A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12405046 | |||||||
| chr1:12405073 | C | T | 13 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.12030+1100C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12405073 | |||||||
| chr1:12405083 | C | T | 2 | a0001c0001t0001g0108 a0001c0001t0011g0107 |
2 | HG02976.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.12030+1110C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12405083 | |||||||
| chr1:12405094 | C | T | 79 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(76): Show |
79 | HG00408.hp2 HG00438.hp2 HG01099.hp2 others(76): Show |
intron_variant | MODIFIER | c.12030+1121C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12405094 | |||||||
| chr1:12405280 | G | T | 1 | a0002c0004t0001g0095 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.12030+1307G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12405280 | |||||||
| chr1:12405340 | CT | C | 2 | a0001c0001t0001g0108 a0001c0001t0011g0107 |
2 | HG02976.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.12030+1369delT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | INFO_REALIGN_3_PRIME | chr1 | 12405340 | ||||||
| chr1:12405355 | A | G | 13 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.12030+1382A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12405355 | |||||||
| chr1:12405381 | C | A | 8 | a0001c0011t0011g0016 a0003c0007t0007g0150 a0003c0007t0007g0151 others(5): Show |
8 | HG01109.hp1 HG01884.hp1 HG01891.hp2 others(5): Show |
intron_variant | MODIFIER | c.12030+1408C>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12405381 | |||||||
| chr1:12405445 | A | G | 2 | a0002c0004t0001g0090 a0002c0032t0001g0021 |
2 | HG02683.hp1 HG02735.hp2 |
intron_variant | MODIFIER | c.12030+1472A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12405445 | |||||||
| chr1:12405493 | T | C | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.12030+1520T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12405493 | |||||||
| chr1:12405613 | G | A | 18 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0043 others(15): Show |
18 | HG00408.hp2 HG00438.hp2 HG02056.hp1 others(15): Show |
intron_variant | MODIFIER | c.12030+1640G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12405613 | |||||||
| chr1:12405829 | G | A | 2 | a0001c0001t0001g0146 a0001c0001t0001g0147 |
2 | HG03017.hp2 HG03491.hp1 |
intron_variant | MODIFIER | c.12030+1856G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12405829 | |||||||
| chr1:12405874 | C | T | 1 | a0001c0005t0002g0062 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.12030+1901C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12405874 | |||||||
| chr1:12405963 | C | G | 2 | a0001c0003t0002g0055 a0001c0003t0002g0056 |
2 | NA18951.hp1 NA19070.hp2 |
intron_variant | MODIFIER | c.12030+1990C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12405963 | |||||||
| chr1:12406001 | A | C | 1 | a0007c0029t0011g0144 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.12030+2028A>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12406001 | |||||||
| chr1:12406008 | G | A | 3 | a0001c0008t0003g0008 a0001c0008t0003g0011 a0001c0008t0003g0012 |
3 | HG01243.hp1 HG01361.hp1 HG01928.hp1 |
intron_variant | MODIFIER | c.12030+2035G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12406008 | |||||||
| chr1:12406620 | C | T | 1 | a0007c0029t0011g0144 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.12030+2647C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12406620 | |||||||
| chr1:12406702 | C | T | 11 | a0001c0002t0007g0066 a0001c0011t0011g0016 a0001c0012t0002g0074 others(8): Show |
11 | HG01109.hp1 HG01243.hp2 HG01884.hp1 others(8): Show |
intron_variant | MODIFIER | c.12030+2729C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12406702 | |||||||
| chr1:12406861 | G | A | 1 | a0001c0001t0004g0082 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.12030+2888G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12406861 | |||||||
| chr1:12407143 | A | G | 1 | a0014c0020t0023g0077 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.12030+3170A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12407143 | |||||||
| chr1:12407177 | G | T | 4 | a0003c0007t0007g0150 a0003c0007t0007g0151 a0003c0007t0007g0152 others(1): Show |
4 | HG01109.hp1 HG01884.hp1 HG02622.hp1 others(1): Show |
intron_variant | MODIFIER | c.12030+3204G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12407177 | |||||||
| chr1:12407294 | A | G | 1 | a0001c0011t0018g0015 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.12030+3321A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12407294 | |||||||
| chr1:12407567 | C | T | 46 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(43): Show |
46 | HG00408.hp2 HG00438.hp2 HG01106.hp1 others(43): Show |
intron_variant | MODIFIER | c.12030+3594C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12407567 | |||||||
| chr1:12407737 | G | A | 1 | a0001c0001t0001g0084 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.12030+3764G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12407737 | |||||||
| chr1:12407780 | CTA | C | 2 | a0001c0009t0022g0076 a0014c0020t0023g0077 |
2 | HG01255.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.12030+3809_12030+3 others(8): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | INFO_REALIGN_3_PRIME | chr1 | 12407780 | ||||||
| chr1:12407875 | G | C | 2 | a0001c0009t0004g0018 a0001c0009t0008g0017 |
2 | HG03579.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.12030+3902G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12407875 | |||||||
| chr1:12407884 | GC | G | 13 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.12030+3912delC | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12407884 | |||||||
| chr1:12407891 | A | T | 13 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.12030+3918A>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12407891 | |||||||
| chr1:12407925 | C | T | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.12030+3952C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12407925 | |||||||
| chr1:12408066 | C | T | 80 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(77): Show |
80 | HG00408.hp2 HG00438.hp2 HG01099.hp2 others(77): Show |
intron_variant | MODIFIER | c.12030+4093C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12408066 | |||||||
| chr1:12408315 | CAA | C | 5 | a0003c0007t0007g0150 a0003c0007t0007g0151 a0003c0007t0007g0152 others(2): Show |
5 | HG01109.hp1 HG01884.hp1 HG01891.hp2 others(2): Show |
intron_variant | MODIFIER | c.12030+4344_12030+4 others(8): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | INFO_REALIGN_3_PRIME | chr1 | 12408315 | ||||||
| chr1:12409084 | C | CGT | 2 | a0001c0001t0001g0108 a0001c0001t0011g0107 |
2 | HG02976.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.12030+5126_12030+5 others(8): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | INFO_REALIGN_3_PRIME | chr1 | 12409084 | ||||||
| chr1:12409356 | G | A | 2 | a0001c0001t0001g0123 a0001c0001t0001g0124 |
2 | HG03486.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.12030+5383G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12409356 | |||||||
| chr1:12409966 | T | G | 3 | a0001c0001t0012g0119 a0001c0001t0012g0121 a0001c0014t0012g0075 |
3 | HG00408.hp1 HG01256.hp2 HG02004.hp1 |
intron_variant | MODIFIER | c.12031-5121T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12409966 | |||||||
| chr1:12410075 | G | A | 1 | a0001c0001t0001g0134 | 1 | NA19001.hp2 | intron_variant | MODIFIER | c.12031-5012G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12410075 | |||||||
| chr1:12410078 | C | T | 3 | a0003c0007t0007g0151 a0003c0007t0007g0152 a0003c0007t0007g0153 |
3 | HG01884.hp1 HG02622.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.12031-5009C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12410078 | |||||||
| chr1:12410302 | C | T | 2 | a0014c0020t0023g0077 a0017c0019t0001g0093 |
2 | HG06807.hp2 NA19066.hp2 |
intron_variant | MODIFIER | c.12031-4785C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12410302 | |||||||
| chr1:12410655 | T | A | 3 | a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0101 |
3 | NA18959.hp1 NA19068.hp2 NA19070.hp1 |
intron_variant | MODIFIER | c.12031-4432T>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12410655 | |||||||
| chr1:12410839 | T | A | 147 | a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 others(144): Show |
147 | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(144): Show |
intron_variant | MODIFIER | c.12031-4248T>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12410839 | |||||||
| chr1:12411026 | A | G | 1 | a0001c0001t0001g0145 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.12031-4061A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12411026 | |||||||
| chr1:12411080 | C | T | 3 | a0001c0005t0002g0059 a0001c0005t0002g0062 a0001c0005t0004g0060 |
3 | HG01884.hp2 HG02486.hp2 HG02572.hp2 |
intron_variant | MODIFIER | c.12031-4007C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12411080 | |||||||
| chr1:12411172 | G | C | 132 | a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 others(129): Show |
132 | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(129): Show |
intron_variant | MODIFIER | c.12031-3915G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12411172 | |||||||
| chr1:12411392 | G | C | 1 | a0001c0001t0001g0085 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.12031-3695G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12411392 | |||||||
| chr1:12411470 | A | C | 4 | a0001c0009t0004g0018 a0001c0009t0008g0017 a0001c0009t0022g0076 others(1): Show |
4 | HG01255.hp2 HG03579.hp1 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.12031-3617A>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12411470 | |||||||
| chr1:12411616 | C | T | 1 | a0002c0004t0001g0133 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.12031-3471C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12411616 | |||||||
| chr1:12411793 | T | C | 21 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(18): Show |
21 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(18): Show |
intron_variant | MODIFIER | c.12031-3294T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12411793 | |||||||
| chr1:12412013 | G | A | 1 | a0001c0001t0002g0140 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.12031-3074G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12412013 | |||||||
| chr1:12412302 | G | A | 4 | a0001c0001t0006g0130 a0001c0001t0006g0131 a0001c0001t0006g0138 others(1): Show |
4 | HG01361.hp2 HG01928.hp2 HG01993.hp2 others(1): Show |
intron_variant | MODIFIER | c.12031-2785G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12412302 | |||||||
| chr1:12412524 | G | T | 1 | a0001c0001t0004g0082 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.12031-2563G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12412524 | |||||||
| chr1:12412714 | G | T | 25 | a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 others(22): Show |
25 | HG00438.hp1 HG01071.hp2 HG01109.hp2 others(22): Show |
intron_variant | MODIFIER | c.12031-2373G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12412714 | |||||||
| chr1:12412717 | T | A | 13 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.12031-2370T>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12412717 | |||||||
| chr1:12412720 | C | G | 1 | a0001c0001t0001g0101 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.12031-2367C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12412720 | |||||||
| chr1:12412788 | T | C | 5 | a0001c0009t0004g0018 a0001c0009t0008g0017 a0001c0009t0022g0076 others(2): Show |
5 | HG01255.hp2 HG03540.hp2 HG03579.hp1 others(2): Show |
intron_variant | MODIFIER | c.12031-2299T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12412788 | |||||||
| chr1:12412790 | T | C | 3 | a0001c0001t0001g0108 a0001c0001t0004g0082 a0001c0001t0011g0107 |
3 | HG02970.hp2 HG02976.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.12031-2297T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12412790 | |||||||
| chr1:12412860 | A | G | 3 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 |
3 | HG02717.hp1 HG03195.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.12031-2227A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12412860 | |||||||
| chr1:12413165 | G | GT | 13 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.12031-1915dupT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | INFO_REALIGN_3_PRIME | chr1 | 12413165 | ||||||
| chr1:12413173 | G | T | 21 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(18): Show |
21 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(18): Show |
intron_variant | MODIFIER | c.12031-1914G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12413173 | |||||||
| chr1:12413196 | T | G | 1 | a0007c0029t0011g0144 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.12031-1891T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12413196 | |||||||
| chr1:12413320 | T | TA | 16 | a0001c0002t0007g0066 a0001c0003t0002g0055 a0001c0003t0002g0056 others(13): Show |
16 | HG01109.hp1 HG01243.hp2 HG01884.hp1 others(13): Show |
intron_variant | MODIFIER | c.12031-1753dupA | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | INFO_REALIGN_3_PRIME | chr1 | 12413320 | ||||||
| chr1:12413326 | A | T | 1 | a0001c0001t0004g0148 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.12031-1761A>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12413326 | |||||||
| chr1:12413512 | A | C | 1 | a0001c0001t0001g0091 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.12031-1575A>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12413512 | |||||||
| chr1:12413779 | C | CT | 13 | a0001c0001t0010g0120 a0001c0002t0002g0035 a0001c0006t0003g0004 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.12031-1293dupT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | INFO_REALIGN_3_PRIME | chr1 | 12413779 | ||||||
| chr1:12414138 | G | T | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.12031-949G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12414138 | |||||||
| chr1:12414485 | TAATGTTG others(8): Show |
T | 3 | a0001c0001t0012g0119 a0001c0001t0012g0121 a0001c0014t0012g0075 |
3 | HG00408.hp1 HG01256.hp2 HG02004.hp1 |
intron_variant | MODIFIER | c.12031-599_12031-58 others(19): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | INFO_REALIGN_3_PRIME | chr1 | 12414485 | ||||||
| chr1:12414592 | T | C | 4 | a0001c0009t0004g0018 a0001c0009t0008g0017 a0001c0009t0022g0076 others(1): Show |
4 | HG01255.hp2 HG03579.hp1 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.12031-495T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12414592 | |||||||
| chr1:12414691 | G | A | 1 | a0001c0001t0001g0022 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.12031-396G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12414691 | |||||||
| chr1:12414999 | C | T | 1 | a0003c0007t0007g0154 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.12031-88C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 63/69 | chr1 | 12414999 | |||||||
| chr1:12415597 | T | TGAACTTG others(2292): Show |
1 | a0001c0003t0005g0048 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.12165+392_12165+39 others(2303): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 64/69 | INFO_REALIGN_3_PRIME | chr1 | 12415597 | ||||||
| chr1:12415597 | T | TGAACTTG others(2293): Show |
1 | a0001c0003t0005g0049 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.12165+392_12165+39 others(2304): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 64/69 | INFO_REALIGN_3_PRIME | chr1 | 12415597 | ||||||
| chr1:12415597 | T | TGAACTTG others(2293): Show |
6 | a0001c0003t0002g0055 a0001c0003t0002g0056 a0001c0003t0005g0050 others(3): Show |
6 | NA18951.hp1 NA18971.hp2 NA18977.hp1 others(3): Show |
intron_variant | MODIFIER | c.12165+392_12165+39 others(2304): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 64/69 | INFO_REALIGN_3_PRIME | chr1 | 12415597 | ||||||
| chr1:12415597 | T | TGAACTTG others(2293): Show |
1 | a0001c0003t0005g0053 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.12165+392_12165+39 others(2304): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 64/69 | INFO_REALIGN_3_PRIME | chr1 | 12415597 | ||||||
| chr1:12415597 | T | TGAACTTG others(2308): Show |
1 | a0001c0005t0004g0111 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.12165+392_12165+39 others(2319): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 64/69 | INFO_REALIGN_3_PRIME | chr1 | 12415597 | ||||||
| chr1:12415597 | T | TGAACTTG others(2312): Show |
1 | a0001c0005t0001g0132 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.12165+392_12165+39 others(2323): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 64/69 | INFO_REALIGN_3_PRIME | chr1 | 12415597 | ||||||
| chr1:12415668 | A | G | 1 | a0004c0031t0014g0142 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.12165+447A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 64/69 | chr1 | 12415668 | |||||||
| chr1:12415825 | C | T | 3 | a0001c0001t0012g0119 a0001c0001t0012g0121 a0001c0014t0012g0075 |
3 | HG00408.hp1 HG01256.hp2 HG02004.hp1 |
intron_variant | MODIFIER | c.12165+604C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 64/69 | chr1 | 12415825 | |||||||
| chr1:12415894 | A | AG | 80 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(77): Show |
80 | HG00408.hp2 HG00438.hp2 HG01099.hp2 others(77): Show |
intron_variant | MODIFIER | c.12165+677dupG | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 64/69 | INFO_REALIGN_3_PRIME | chr1 | 12415894 | ||||||
| chr1:12416081 | G | A | 23 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(20): Show |
23 | HG00408.hp2 HG00438.hp2 HG02056.hp1 others(20): Show |
intron_variant | MODIFIER | c.12166-579G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 64/69 | chr1 | 12416081 | |||||||
| chr1:12416884 | C | G | 3 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 |
3 | HG02717.hp1 HG03195.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.12333+57C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12416884 | |||||||
| chr1:12416980 | C | T | 1 | a0001c0006t0010g0003 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.12333+153C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12416980 | |||||||
| chr1:12417036 | G | A | 25 | a0001c0001t0010g0120 a0001c0001t0016g0032 a0001c0006t0003g0004 others(22): Show |
25 | HG01099.hp2 HG01109.hp1 HG01243.hp1 others(22): Show |
intron_variant | MODIFIER | c.12333+209G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12417036 | |||||||
| chr1:12417143 | A | G | 1 | a0001c0001t0006g0138 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.12333+316A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12417143 | |||||||
| chr1:12417422 | G | A | 1 | a0001c0024t0001g0127 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.12333+595G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12417422 | |||||||
| chr1:12417427 | G | A | 3 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 |
3 | HG02717.hp1 HG03195.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.12333+600G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12417427 | |||||||
| chr1:12417699 | G | A | 3 | a0001c0001t0015g0069 a0001c0002t0004g0047 a0001c0002t0015g0057 |
3 | HG01106.hp1 HG03098.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.12333+872G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12417699 | |||||||
| chr1:12417778 | A | G | 1 | a0002c0032t0001g0021 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.12333+951A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12417778 | |||||||
| chr1:12417853 | T | C | 27 | a0001c0001t0010g0120 a0001c0001t0016g0032 a0001c0006t0003g0004 others(24): Show |
27 | HG01099.hp2 HG01109.hp1 HG01243.hp1 others(24): Show |
intron_variant | MODIFIER | c.12333+1026T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12417853 | |||||||
| chr1:12417985 | C | T | 1 | a0001c0009t0022g0076 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.12333+1158C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12417985 | |||||||
| chr1:12418432 | G | C | 22 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(19): Show |
22 | HG00408.hp2 HG00438.hp2 HG02056.hp1 others(19): Show |
intron_variant | MODIFIER | c.12333+1605G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12418432 | |||||||
| chr1:12418585 | A | C | 2 | a0001c0009t0004g0018 a0001c0009t0008g0017 |
2 | HG03579.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.12333+1758A>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12418585 | |||||||
| chr1:12418586 | A | G | 1 | a0001c0001t0001g0022 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.12333+1759A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12418586 | |||||||
| chr1:12418910 | G | T | 13 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.12333+2083G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12418910 | |||||||
| chr1:12420136 | A | G | 4 | a0001c0003t0005g0050 a0001c0003t0005g0051 a0001c0003t0005g0052 others(1): Show |
4 | NA18971.hp2 NA18977.hp1 NA19010.hp2 others(1): Show |
intron_variant | MODIFIER | c.12333+3309A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12420136 | |||||||
| chr1:12420193 | C | A | 3 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0009c0022t0002g0033 |
3 | HG02056.hp1 HG02735.hp1 NA18968.hp2 |
intron_variant | MODIFIER | c.12333+3366C>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12420193 | |||||||
| chr1:12420227 | G | T | 3 | a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0113 |
3 | HG01943.hp2 HG02273.hp2 HG02300.hp2 |
intron_variant | MODIFIER | c.12333+3400G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12420227 | |||||||
| chr1:12420256 | G | A | 1 | a0001c0002t0001g0006 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.12333+3429G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12420256 | |||||||
| chr1:12420451 | T | C | 83 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(80): Show |
83 | HG00408.hp2 HG00438.hp2 HG01099.hp2 others(80): Show |
intron_variant | MODIFIER | c.12333+3624T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12420451 | |||||||
| chr1:12420656 | A | T | 2 | a0001c0013t0001g0065 a0001c0013t0001g0073 |
2 | HG03195.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.12333+3829A>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12420656 | |||||||
| chr1:12421030 | A | G | 2 | a0001c0011t0011g0016 a0003c0007t0007g0154 |
2 | HG02895.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.12333+4203A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12421030 | |||||||
| chr1:12421177 | A | G | 1 | a0001c0009t0004g0018 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.12333+4350A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12421177 | |||||||
| chr1:12421323 | T | A | 17 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(14): Show |
17 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(14): Show |
intron_variant | MODIFIER | c.12333+4496T>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12421323 | |||||||
| chr1:12421506 | C | A | 1 | a0001c0009t0008g0017 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.12333+4679C>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12421506 | |||||||
| chr1:12422019 | G | A | 16 | a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0097 others(13): Show |
16 | HG00438.hp1 HG01071.hp2 HG01109.hp2 others(13): Show |
intron_variant | MODIFIER | c.12333+5192G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12422019 | |||||||
| chr1:12422134 | C | T | 2 | a0005c0010t0008g0070 a0005c0010t0008g0071 |
2 | HG02809.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.12333+5307C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12422134 | |||||||
| chr1:12422559 | T | G | 13 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.12333+5732T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12422559 | |||||||
| chr1:12422848 | CT | C | 5 | a0001c0003t0002g0055 a0001c0003t0002g0056 a0003c0007t0007g0151 others(2): Show |
5 | HG01884.hp1 HG02622.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.12333+6038delT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | INFO_REALIGN_3_PRIME | chr1 | 12422848 | ||||||
| chr1:12422959 | G | A | 2 | a0001c0009t0004g0018 a0001c0009t0008g0017 |
2 | HG03579.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.12333+6132G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12422959 | |||||||
| chr1:12423325 | A | G | 5 | a0001c0021t0013g0046 a0004c0030t0014g0143 a0004c0031t0014g0142 others(2): Show |
5 | HG02717.hp1 HG03195.hp2 HG03486.hp1 others(2): Show |
intron_variant | MODIFIER | c.12333+6498A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12423325 | |||||||
| chr1:12423375 | G | A | 17 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(14): Show |
17 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(14): Show |
intron_variant | MODIFIER | c.12333+6548G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12423375 | |||||||
| chr1:12423390 | A | G | 1 | a0001c0001t0004g0148 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.12333+6563A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12423390 | |||||||
| chr1:12423412 | C | G | 1 | a0003c0007t0007g0150 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.12333+6585C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12423412 | |||||||
| chr1:12423437 | G | A | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.12333+6610G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12423437 | |||||||
| chr1:12423624 | T | G | 67 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(64): Show |
67 | HG00408.hp2 HG00438.hp2 HG01106.hp1 others(64): Show |
intron_variant | MODIFIER | c.12333+6797T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12423624 | |||||||
| chr1:12424365 | G | C | 1 | a0001c0002t0001g0099 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.12333+7538G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12424365 | |||||||
| chr1:12424435 | A | G | 1 | a0001c0001t0001g0112 | 1 | HG02273.hp2 | intron_variant | MODIFIER | c.12333+7608A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12424435 | |||||||
| chr1:12424527 | C | T | 2 | a0001c0001t0016g0032 a0018c0015t0024g0001 |
2 | HG02970.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.12333+7700C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12424527 | |||||||
| chr1:12424690 | T | C | 1 | a0001c0005t0001g0132 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.12333+7863T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12424690 | |||||||
| chr1:12424725 | C | T | 3 | a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0113 |
3 | HG01943.hp2 HG02273.hp2 HG02300.hp2 |
intron_variant | MODIFIER | c.12333+7898C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12424725 | |||||||
| chr1:12424727 | G | A | 21 | a0001c0001t0010g0120 a0001c0001t0016g0032 a0001c0006t0003g0004 others(18): Show |
21 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(18): Show |
intron_variant | MODIFIER | c.12333+7900G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12424727 | |||||||
| chr1:12425562 | T | TA | 21 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(18): Show |
21 | HG00408.hp2 HG00438.hp2 HG02056.hp1 others(18): Show |
intron_variant | MODIFIER | c.12333+8750dupA | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | INFO_REALIGN_3_PRIME | chr1 | 12425562 | ||||||
| chr1:12425577 | AT | A | 22 | a0001c0001t0001g0101 a0001c0001t0010g0120 a0001c0006t0003g0004 others(19): Show |
22 | HG01099.hp2 HG01109.hp1 HG01243.hp1 others(19): Show |
intron_variant | MODIFIER | c.12333+8751delT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12425577 | |||||||
| chr1:12425606 | A | G | 6 | a0001c0002t0007g0066 a0001c0021t0013g0046 a0003c0007t0007g0150 others(3): Show |
6 | HG01109.hp1 HG01884.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.12333+8779A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12425606 | |||||||
| chr1:12426266 | T | C | 133 | a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 others(130): Show |
133 | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(130): Show |
intron_variant | MODIFIER | c.12333+9439T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12426266 | |||||||
| chr1:12426739 | G | A | 19 | a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0097 others(16): Show |
19 | HG00438.hp1 HG01071.hp2 HG01109.hp2 others(16): Show |
intron_variant | MODIFIER | c.12333+9912G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12426739 | |||||||
| chr1:12427017 | GAAAT | G | 22 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(19): Show |
22 | HG00408.hp2 HG00438.hp2 HG02056.hp1 others(19): Show |
intron_variant | MODIFIER | c.12333+10211_12333+ others(12): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | INFO_REALIGN_3_PRIME | chr1 | 12427017 | ||||||
| chr1:12427240 | A | ATAT | 4 | a0001c0002t0009g0030 a0001c0011t0018g0015 a0001c0012t0002g0074 others(1): Show |
4 | HG01243.hp2 HG03225.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.12333+10414_12333+ others(11): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | INFO_REALIGN_3_PRIME | chr1 | 12427240 | ||||||
| chr1:12427240 | A | ATATTAT | 3 | a0001c0001t0002g0043 a0001c0001t0002g0072 a0001c0002t0002g0045 |
3 | HG02083.hp2 HG02165.hp1 NA18959.hp2 |
intron_variant | MODIFIER | c.12333+10414_12333+ others(14): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | INFO_REALIGN_3_PRIME | chr1 | 12427240 | ||||||
| chr1:12427240 | ATTT | A | 5 | a0001c0003t0016g0063 a0001c0005t0002g0059 a0001c0005t0002g0062 others(2): Show |
5 | HG01884.hp2 HG02486.hp2 HG02572.hp2 others(2): Show |
intron_variant | MODIFIER | c.12333+10415_12333+ others(11): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | INFO_REALIGN_3_PRIME | chr1 | 12427240 | ||||||
| chr1:12427240 | ATTTTAT | A | 18 | a0001c0001t0004g0082 a0001c0003t0001g0058 a0001c0003t0002g0055 others(15): Show |
18 | HG01256.hp1 HG01346.hp1 HG02273.hp1 others(15): Show |
intron_variant | MODIFIER | c.12333+10415_12333+ others(14): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | INFO_REALIGN_3_PRIME | chr1 | 12427240 | ||||||
| chr1:12427242 | T | A | 32 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(29): Show |
32 | HG00408.hp2 HG00438.hp2 HG01106.hp1 others(29): Show |
intron_variant | MODIFIER | c.12333+10415T>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12427242 | |||||||
| chr1:12427242 | T | TTTA | 17 | a0001c0001t0001g0037 a0001c0001t0001g0091 a0001c0001t0001g0117 others(14): Show |
17 | HG01099.hp2 HG01255.hp1 HG01361.hp1 others(14): Show |
intron_variant | MODIFIER | c.12333+10452_12333+ others(11): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | INFO_REALIGN_3_PRIME | chr1 | 12427242 | ||||||
| chr1:12427242 | T | TTTATTA | 4 | a0001c0001t0004g0148 a0001c0006t0003g0007 a0001c0006t0003g0013 others(1): Show |
4 | HG01243.hp1 HG01346.hp2 HG01993.hp1 others(1): Show |
intron_variant | MODIFIER | c.12333+10449_12333+ others(14): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | INFO_REALIGN_3_PRIME | chr1 | 12427242 | ||||||
| chr1:12427242 | TTTA | T | 5 | a0001c0001t0001g0092 a0001c0001t0001g0101 a0004c0030t0014g0143 others(2): Show |
5 | HG02717.hp1 HG03195.hp2 HG03486.hp1 others(2): Show |
intron_variant | MODIFIER | c.12333+10452_12333+ others(11): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | INFO_REALIGN_3_PRIME | chr1 | 12427242 | ||||||
| chr1:12427242 | TTTATTAT others(2): Show |
T | 5 | a0001c0021t0013g0046 a0003c0007t0007g0150 a0003c0007t0007g0151 others(2): Show |
5 | HG01109.hp1 HG01884.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.12333+10446_12333+ others(17): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | INFO_REALIGN_3_PRIME | chr1 | 12427242 | ||||||
| chr1:12427242 | TTTATTAT others(11): Show |
T | 1 | a0001c0001t0019g0102 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.12333+10437_12333+ others(26): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | INFO_REALIGN_3_PRIME | chr1 | 12427242 | ||||||
| chr1:12427743 | T | A | 1 | a0010c0017t0001g0083 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.12333+10916T>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12427743 | |||||||
| chr1:12427883 | T | A | 13 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.12333+11056T>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12427883 | |||||||
| chr1:12428286 | T | A | 1 | a0001c0005t0002g0068 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.12333+11459T>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12428286 | |||||||
| chr1:12428419 | C | A | 45 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(42): Show |
45 | HG00408.hp2 HG00438.hp2 HG01106.hp1 others(42): Show |
intron_variant | MODIFIER | c.12333+11592C>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12428419 | |||||||
| chr1:12428696 | G | A | 1 | a0002c0004t0001g0081 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.12333+11869G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12428696 | |||||||
| chr1:12429042 | C | T | 1 | a0001c0001t0001g0037 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.12333+12215C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12429042 | |||||||
| chr1:12429290 | C | CT | 6 | a0001c0002t0007g0066 a0001c0021t0013g0046 a0003c0007t0007g0150 others(3): Show |
6 | HG01109.hp1 HG01884.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.12333+12474dupT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | INFO_REALIGN_3_PRIME | chr1 | 12429290 | ||||||
| chr1:12430536 | C | T | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.12333+13709C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12430536 | |||||||
| chr1:12430577 | T | C | 1 | a0001c0002t0002g0039 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.12333+13750T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12430577 | |||||||
| chr1:12430641 | A | G | 1 | a0010c0017t0001g0083 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.12333+13814A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12430641 | |||||||
| chr1:12430800 | G | T | 1 | a0001c0001t0001g0023 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.12333+13973G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12430800 | |||||||
| chr1:12430898 | A | G | 1 | a0001c0001t0001g0117 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.12333+14071A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12430898 | |||||||
| chr1:12431037 | C | T | 1 | a0001c0011t0018g0015 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.12333+14210C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12431037 | |||||||
| chr1:12431144 | A | G | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.12333+14317A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12431144 | |||||||
| chr1:12431179 | A | C | 1 | a0013c0027t0001g0105 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.12333+14352A>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12431179 | |||||||
| chr1:12431657 | C | CTT | 8 | a0001c0002t0007g0066 a0001c0013t0001g0065 a0001c0013t0001g0073 others(5): Show |
8 | HG01109.hp1 HG01884.hp1 HG01891.hp2 others(5): Show |
intron_variant | MODIFIER | c.12333+14832_12333+ others(10): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | INFO_REALIGN_3_PRIME | chr1 | 12431657 | ||||||
| chr1:12432040 | A | G | 1 | a0013c0027t0001g0105 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.12333+15213A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12432040 | |||||||
| chr1:12432169 | G | A | 2 | a0001c0001t0016g0032 a0018c0015t0024g0001 |
2 | HG02970.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.12333+15342G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12432169 | |||||||
| chr1:12432196 | T | A | 1 | a0001c0001t0001g0022 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.12333+15369T>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12432196 | |||||||
| chr1:12432394 | C | CA | 12 | a0001c0001t0006g0138 a0001c0001t0021g0122 a0001c0002t0007g0066 others(9): Show |
12 | HG01109.hp1 HG01361.hp2 HG01884.hp1 others(9): Show |
intron_variant | MODIFIER | c.12333+15582dupA | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | INFO_REALIGN_3_PRIME | chr1 | 12432394 | ||||||
| chr1:12432394 | C | CAA | 12 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0009 others(9): Show |
12 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.12333+15581_12333+ others(10): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | INFO_REALIGN_3_PRIME | chr1 | 12432394 | ||||||
| chr1:12432526 | A | G | 45 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(42): Show |
45 | HG00408.hp2 HG00438.hp2 HG01106.hp1 others(42): Show |
intron_variant | MODIFIER | c.12333+15699A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12432526 | |||||||
| chr1:12432559 | G | A | 6 | a0001c0002t0007g0066 a0001c0021t0013g0046 a0003c0007t0007g0150 others(3): Show |
6 | HG01109.hp1 HG01884.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.12333+15732G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12432559 | |||||||
| chr1:12432713 | G | A | 13 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.12333+15886G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12432713 | |||||||
| chr1:12432784 | G | A | 1 | a0001c0009t0022g0076 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.12333+15957G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12432784 | |||||||
| chr1:12432814 | C | T | 1 | a0001c0011t0018g0015 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.12333+15987C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12432814 | |||||||
| chr1:12433195 | C | T | 1 | a0014c0020t0023g0077 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.12333+16368C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12433195 | |||||||
| chr1:12433258 | G | GAA | 13 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.12333+16442_12333+ others(10): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | INFO_REALIGN_3_PRIME | chr1 | 12433258 | ||||||
| chr1:12433259 | A | G | 2 | a0001c0001t0001g0022 a0001c0001t0001g0037 |
2 | HG01433.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.12333+16432A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12433259 | |||||||
| chr1:12433263 | A | AC | 6 | a0001c0002t0007g0066 a0001c0021t0013g0046 a0003c0007t0007g0150 others(3): Show |
6 | HG01109.hp1 HG01884.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.12333+16436_12333+ others(9): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12433263 | |||||||
| chr1:12433263 | A | C | 1 | a0001c0001t0001g0098 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.12333+16436A>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12433263 | |||||||
| chr1:12433271 | C | A | 1 | a0001c0002t0002g0035 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.12333+16444C>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12433271 | |||||||
| chr1:12433284 | A | C | 4 | a0001c0011t0011g0016 a0003c0007t0007g0154 a0007c0029t0011g0144 others(1): Show |
4 | HG01891.hp2 HG02895.hp1 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.12333+16457A>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12433284 | |||||||
| chr1:12433426 | C | T | 2 | a0001c0001t0016g0032 a0018c0015t0024g0001 |
2 | HG02970.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.12333+16599C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12433426 | |||||||
| chr1:12433526 | C | T | 2 | a0001c0011t0011g0016 a0003c0007t0007g0154 |
2 | HG02895.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.12333+16699C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12433526 | |||||||
| chr1:12433931 | T | TGAGAGAG others(9): Show |
1 | a0004c0031t0014g0142 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.12333+17108_12333+ others(24): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | INFO_REALIGN_3_PRIME | chr1 | 12433931 | ||||||
| chr1:12433931 | T | TGAGAGAG others(11): Show |
1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.12333+17106_12333+ others(26): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | INFO_REALIGN_3_PRIME | chr1 | 12433931 | ||||||
| chr1:12433931 | T | TGAGAGAG others(13): Show |
2 | a0004c0030t0014g0143 a0012c0028t0013g0141 |
2 | HG02717.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.12333+17123_12333+ others(28): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | INFO_REALIGN_3_PRIME | chr1 | 12433931 | ||||||
| chr1:12433931 | T | TGAGAGAG others(19): Show |
1 | a0001c0008t0003g0002 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.12333+17123_12333+ others(34): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | INFO_REALIGN_3_PRIME | chr1 | 12433931 | ||||||
| chr1:12433931 | T | TGAGAGAG others(21): Show |
3 | a0001c0001t0010g0120 a0001c0008t0003g0011 a0001c0008t0003g0012 |
3 | HG01243.hp1 HG01361.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.12333+17123_12333+ others(36): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | INFO_REALIGN_3_PRIME | chr1 | 12433931 | ||||||
| chr1:12433931 | T | TGAGAGAG others(27): Show |
4 | a0001c0006t0003g0007 a0001c0006t0003g0009 a0001c0008t0003g0008 others(1): Show |
4 | HG01346.hp2 HG01928.hp1 HG04115.hp1 others(1): Show |
intron_variant | MODIFIER | c.12333+17123_12333+ others(42): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | INFO_REALIGN_3_PRIME | chr1 | 12433931 | ||||||
| chr1:12433931 | T | TGAGAGAG others(29): Show |
2 | a0001c0006t0003g0013 a0001c0006t0010g0003 |
2 | HG01993.hp1 HG02698.hp1 |
intron_variant | MODIFIER | c.12333+17123_12333+ others(44): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | INFO_REALIGN_3_PRIME | chr1 | 12433931 | ||||||
| chr1:12433931 | T | TGAGAGAG others(31): Show |
1 | a0001c0006t0010g0010 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.12333+17123_12333+ others(46): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | INFO_REALIGN_3_PRIME | chr1 | 12433931 | ||||||
| chr1:12433931 | T | TGAGAGAG others(33): Show |
1 | a0001c0006t0003g0004 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.12333+17123_12333+ others(48): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | INFO_REALIGN_3_PRIME | chr1 | 12433931 | ||||||
| chr1:12433931 | T | TGAGAGAG others(37): Show |
1 | a0006c0025t0003g0005 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.12333+17123_12333+ others(52): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | INFO_REALIGN_3_PRIME | chr1 | 12433931 | ||||||
| chr1:12433931 | TGAGA | T | 22 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(19): Show |
22 | HG00408.hp2 HG00438.hp2 HG02056.hp1 others(19): Show |
intron_variant | MODIFIER | c.12333+17120_12333+ others(12): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | INFO_REALIGN_3_PRIME | chr1 | 12433931 | ||||||
| chr1:12433949 | A | AGAGAGAG others(21): Show |
1 | a0001c0001t0021g0122 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.12333+17123_12333+ others(36): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | INFO_REALIGN_3_PRIME | chr1 | 12433949 | ||||||
| chr1:12433949 | A | AGAGAGAG others(7): Show |
1 | a0014c0020t0023g0077 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.12333+17123_12333+ others(22): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | INFO_REALIGN_3_PRIME | chr1 | 12433949 | ||||||
| chr1:12433949 | A | AGT | 5 | a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0113 others(2): Show |
5 | HG00408.hp1 HG01943.hp2 HG02273.hp2 others(2): Show |
intron_variant | MODIFIER | c.12333+17142_12333+ others(10): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | INFO_REALIGN_3_PRIME | chr1 | 12433949 | ||||||
| chr1:12433951 | T | A | 2 | a0001c0001t0006g0129 a0001c0021t0013g0046 |
2 | HG00438.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.12333+17124T>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12433951 | |||||||
| chr1:12433969 | TG | T | 2 | a0001c0001t0012g0119 a0001c0001t0012g0121 |
2 | HG01256.hp2 HG02004.hp1 |
intron_variant | MODIFIER | c.12333+17144delG | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | INFO_REALIGN_3_PRIME | chr1 | 12433969 | ||||||
| chr1:12433972 | A | T | 2 | a0001c0001t0012g0119 a0001c0001t0012g0121 |
2 | HG01256.hp2 HG02004.hp1 |
intron_variant | MODIFIER | c.12333+17145A>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12433972 | |||||||
| chr1:12433983 | G | C | 1 | a0014c0020t0023g0077 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.12333+17156G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12433983 | |||||||
| chr1:12434188 | C | T | 2 | a0001c0001t0016g0032 a0018c0015t0024g0001 |
2 | HG02970.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.12333+17361C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12434188 | |||||||
| chr1:12434224 | C | T | 1 | a0001c0014t0012g0075 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.12333+17397C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12434224 | |||||||
| chr1:12434777 | A | G | 1 | a0001c0008t0003g0002 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.12333+17950A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12434777 | |||||||
| chr1:12435064 | C | T | 1 | a0001c0003t0001g0058 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.12333+18237C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12435064 | |||||||
| chr1:12435065 | G | A | 4 | a0001c0001t0006g0130 a0001c0001t0006g0131 a0001c0001t0006g0138 others(1): Show |
4 | HG01361.hp2 HG01928.hp2 HG01993.hp2 others(1): Show |
intron_variant | MODIFIER | c.12333+18238G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12435065 | |||||||
| chr1:12435177 | G | A | 1 | a0001c0001t0004g0082 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.12333+18350G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12435177 | |||||||
| chr1:12435334 | G | A | 3 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 |
3 | HG02717.hp1 HG03195.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.12333+18507G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12435334 | |||||||
| chr1:12435411 | T | C | 18 | a0001c0001t0010g0120 a0001c0001t0021g0122 a0001c0006t0003g0004 others(15): Show |
18 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(15): Show |
intron_variant | MODIFIER | c.12333+18584T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12435411 | |||||||
| chr1:12435722 | G | T | 1 | a0013c0027t0001g0105 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.12333+18895G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12435722 | |||||||
| chr1:12435965 | T | C | 85 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(82): Show |
85 | HG00408.hp2 HG00438.hp2 HG01099.hp2 others(82): Show |
intron_variant | MODIFIER | c.12333+19138T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12435965 | |||||||
| chr1:12436111 | A | G | 1 | a0001c0014t0012g0075 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.12333+19284A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12436111 | |||||||
| chr1:12436326 | G | A | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.12333+19499G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12436326 | |||||||
| chr1:12436441 | G | C | 1 | a0017c0019t0001g0093 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.12334-19557G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12436441 | |||||||
| chr1:12436659 | A | G | 1 | a0001c0005t0002g0068 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.12334-19339A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12436659 | |||||||
| chr1:12436661 | T | G | 13 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.12334-19337T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12436661 | |||||||
| chr1:12436691 | G | A | 1 | a0001c0001t0021g0122 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.12334-19307G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12436691 | |||||||
| chr1:12436772 | A | G | 9 | a0001c0002t0007g0066 a0001c0021t0013g0046 a0003c0007t0007g0150 others(6): Show |
9 | HG01109.hp1 HG01884.hp1 HG02622.hp1 others(6): Show |
intron_variant | MODIFIER | c.12334-19226A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12436772 | |||||||
| chr1:12437775 | G | T | 1 | a0002c0004t0001g0095 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.12334-18223G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12437775 | |||||||
| chr1:12437843 | C | T | 2 | a0001c0003t0002g0061 a0011c0023t0002g0036 |
2 | HG03225.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.12334-18155C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12437843 | |||||||
| chr1:12438194 | A | G | 1 | a0001c0005t0001g0132 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.12334-17804A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12438194 | |||||||
| chr1:12438447 | T | C | 23 | a0001c0001t0010g0120 a0001c0001t0021g0122 a0001c0006t0003g0004 others(20): Show |
23 | HG01099.hp2 HG01109.hp1 HG01243.hp1 others(20): Show |
intron_variant | MODIFIER | c.12334-17551T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12438447 | |||||||
| chr1:12438602 | A | G | 1 | a0014c0020t0023g0077 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.12334-17396A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12438602 | |||||||
| chr1:12439044 | C | G | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.12334-16954C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12439044 | |||||||
| chr1:12439081 | A | G | 1 | a0014c0020t0023g0077 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.12334-16917A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12439081 | |||||||
| chr1:12439328 | G | A | 3 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 |
3 | HG02717.hp1 HG03195.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.12334-16670G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12439328 | |||||||
| chr1:12439735 | A | G | 46 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(43): Show |
46 | HG00408.hp2 HG00438.hp2 HG01106.hp1 others(43): Show |
intron_variant | MODIFIER | c.12334-16263A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12439735 | |||||||
| chr1:12440076 | G | C | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.12334-15922G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12440076 | |||||||
| chr1:12440338 | A | G | 1 | a0013c0027t0001g0105 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.12334-15660A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12440338 | |||||||
| chr1:12440522 | C | G | 2 | a0001c0001t0001g0125 a0001c0001t0004g0139 |
2 | HG02523.hp2 NA18977.hp2 |
intron_variant | MODIFIER | c.12334-15476C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12440522 | |||||||
| chr1:12440532 | G | A | 1 | a0001c0024t0001g0127 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.12334-15466G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12440532 | |||||||
| chr1:12440736 | C | T | 2 | a0001c0001t0001g0125 a0001c0001t0004g0139 |
2 | HG02523.hp2 NA18977.hp2 |
intron_variant | MODIFIER | c.12334-15262C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12440736 | |||||||
| chr1:12440784 | GACAATCA others(64): Show |
G | 3 | a0001c0001t0015g0069 a0001c0002t0004g0047 a0001c0002t0015g0057 |
3 | HG01106.hp1 HG03098.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.12334-15210_12334- others(79): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | INFO_REALIGN_3_PRIME | chr1 | 12440784 | ||||||
| chr1:12440786 | C | G | 18 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(15): Show |
18 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(15): Show |
intron_variant | MODIFIER | c.12334-15212C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12440786 | |||||||
| chr1:12440961 | T | A | 1 | a0001c0009t0022g0076 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.12334-15037T>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12440961 | |||||||
| chr1:12441136 | G | A | 1 | a0001c0006t0003g0004 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.12334-14862G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12441136 | |||||||
| chr1:12441347 | G | T | 2 | a0001c0001t0016g0032 a0018c0015t0024g0001 |
2 | HG02970.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.12334-14651G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12441347 | |||||||
| chr1:12441348 | G | T | 2 | a0001c0001t0016g0032 a0018c0015t0024g0001 |
2 | HG02970.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.12334-14650G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12441348 | |||||||
| chr1:12441352 | G | T | 3 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0009c0022t0002g0033 |
3 | HG02056.hp1 HG02735.hp1 NA18968.hp2 |
intron_variant | MODIFIER | c.12334-14646G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12441352 | |||||||
| chr1:12441580 | C | T | 2 | a0001c0009t0004g0018 a0001c0009t0008g0017 |
2 | HG03579.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.12334-14418C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12441580 | |||||||
| chr1:12441920 | A | G | 1 | a0001c0001t0021g0122 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.12334-14078A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12441920 | |||||||
| chr1:12441928 | T | C | 1 | a0007c0029t0011g0144 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.12334-14070T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12441928 | |||||||
| chr1:12441957 | A | G | 1 | a0001c0001t0001g0086 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.12334-14041A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12441957 | |||||||
| chr1:12442585 | C | CT | 41 | a0001c0001t0001g0124 a0001c0001t0004g0082 a0001c0001t0010g0120 others(38): Show |
41 | HG01099.hp2 HG01106.hp1 HG01109.hp1 others(38): Show |
intron_variant | MODIFIER | c.12334-13396dupT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | INFO_REALIGN_3_PRIME | chr1 | 12442585 | ||||||
| chr1:12442585 | CT | C | 5 | a0001c0001t0020g0078 a0001c0002t0015g0057 a0004c0030t0014g0143 others(2): Show |
5 | HG02717.hp1 HG02717.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.12334-13396delT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | INFO_REALIGN_3_PRIME | chr1 | 12442585 | ||||||
| chr1:12442684 | G | A | 1 | a0001c0002t0008g0044 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.12334-13314G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12442684 | |||||||
| chr1:12443197 | A | G | 13 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.12334-12801A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12443197 | |||||||
| chr1:12443437 | T | C | 2 | a0001c0009t0004g0018 a0001c0009t0008g0017 |
2 | HG03579.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.12334-12561T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12443437 | |||||||
| chr1:12443487 | G | A | 1 | a0001c0001t0001g0113 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.12334-12511G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12443487 | |||||||
| chr1:12443878 | T | C | 21 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(18): Show |
21 | HG01099.hp2 HG01109.hp1 HG01243.hp1 others(18): Show |
intron_variant | MODIFIER | c.12334-12120T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12443878 | |||||||
| chr1:12443966 | C | T | 2 | a0001c0009t0004g0018 a0001c0009t0008g0017 |
2 | HG03579.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.12334-12032C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12443966 | |||||||
| chr1:12443994 | C | T | 1 | a0003c0007t0007g0150 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.12334-12004C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12443994 | |||||||
| chr1:12444240 | T | C | 1 | a0001c0009t0022g0076 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.12334-11758T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12444240 | |||||||
| chr1:12445101 | T | C | 22 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(19): Show |
22 | HG01099.hp2 HG01109.hp1 HG01243.hp1 others(19): Show |
intron_variant | MODIFIER | c.12334-10897T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12445101 | |||||||
| chr1:12445141 | C | T | 2 | a0001c0001t0016g0032 a0018c0015t0024g0001 |
2 | HG02970.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.12334-10857C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12445141 | |||||||
| chr1:12445881 | C | T | 3 | a0001c0001t0001g0108 a0001c0012t0002g0074 a0001c0012t0008g0067 |
3 | HG01243.hp2 HG02976.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.12334-10117C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12445881 | |||||||
| chr1:12445978 | A | G | 2 | a0001c0001t0011g0107 a0001c0011t0018g0015 |
2 | HG03225.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.12334-10020A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12445978 | |||||||
| chr1:12446528 | C | T | 1 | a0001c0003t0005g0049 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.12334-9470C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12446528 | |||||||
| chr1:12446904 | A | G | 46 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(43): Show |
46 | HG00408.hp2 HG00438.hp2 HG01106.hp1 others(43): Show |
intron_variant | MODIFIER | c.12334-9094A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12446904 | |||||||
| chr1:12447056 | C | T | 4 | a0001c0011t0011g0016 a0003c0007t0007g0154 a0007c0029t0011g0144 others(1): Show |
4 | HG01891.hp2 HG02895.hp1 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.12334-8942C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12447056 | |||||||
| chr1:12447333 | A | T | 46 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(43): Show |
46 | HG00408.hp2 HG00438.hp2 HG01106.hp1 others(43): Show |
intron_variant | MODIFIER | c.12334-8665A>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12447333 | |||||||
| chr1:12447523 | G | T | 2 | a0001c0009t0004g0018 a0001c0009t0008g0017 |
2 | HG03579.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.12334-8475G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12447523 | |||||||
| chr1:12447707 | A | G | 1 | a0001c0002t0002g0045 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.12334-8291A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12447707 | |||||||
| chr1:12448315 | A | G | 13 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.12334-7683A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12448315 | |||||||
| chr1:12448887 | A | G | 22 | a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 others(19): Show |
22 | HG00438.hp1 HG01071.hp2 HG01109.hp2 others(19): Show |
intron_variant | MODIFIER | c.12334-7111A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12448887 | |||||||
| chr1:12449092 | G | A | 1 | a0001c0005t0002g0068 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.12334-6906G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12449092 | |||||||
| chr1:12449231 | C | T | 1 | a0001c0003t0005g0050 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.12334-6767C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12449231 | |||||||
| chr1:12449439 | C | T | 1 | a0001c0001t0001g0022 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.12334-6559C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12449439 | |||||||
| chr1:12449571 | A | G | 1 | a0007c0029t0011g0144 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.12334-6427A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12449571 | |||||||
| chr1:12450015 | C | T | 1 | a0001c0001t0001g0108 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.12334-5983C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12450015 | |||||||
| chr1:12450376 | A | G | 2 | a0001c0002t0001g0099 a0001c0002t0001g0100 |
2 | HG01255.hp1 NA20905.hp2 |
intron_variant | MODIFIER | c.12334-5622A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12450376 | |||||||
| chr1:12450429 | A | G | 5 | a0001c0001t0006g0129 a0001c0001t0006g0130 a0001c0001t0006g0131 others(2): Show |
5 | HG00438.hp1 HG01361.hp2 HG01928.hp2 others(2): Show |
intron_variant | MODIFIER | c.12334-5569A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12450429 | |||||||
| chr1:12450568 | C | T | 1 | a0001c0001t0020g0078 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.12334-5430C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12450568 | |||||||
| chr1:12450676 | C | T | 1 | a0001c0001t0001g0087 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.12334-5322C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12450676 | |||||||
| chr1:12450840 | C | T | 1 | a0001c0006t0010g0010 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.12334-5158C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12450840 | |||||||
| chr1:12451114 | A | G | 1 | a0001c0001t0001g0104 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.12334-4884A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12451114 | |||||||
| chr1:12451382 | G | A | 1 | a0001c0001t0001g0091 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.12334-4616G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12451382 | |||||||
| chr1:12452146 | C | G | 13 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.12334-3852C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12452146 | |||||||
| chr1:12452270 | A | C | 1 | a0001c0009t0004g0018 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.12334-3728A>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12452270 | |||||||
| chr1:12453322 | C | A | 5 | a0001c0002t0001g0006 a0001c0002t0001g0099 a0001c0002t0001g0100 others(2): Show |
5 | HG01255.hp1 HG01943.hp1 HG02300.hp1 others(2): Show |
intron_variant | MODIFIER | c.12334-2676C>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12453322 | |||||||
| chr1:12453390 | T | C | 8 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0013 others(5): Show |
8 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(5): Show |
intron_variant | MODIFIER | c.12334-2608T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12453390 | |||||||
| chr1:12453673 | T | A | 1 | a0013c0027t0001g0105 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.12334-2325T>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12453673 | |||||||
| chr1:12453710 | C | T | 13 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.12334-2288C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12453710 | |||||||
| chr1:12454551 | T | A | 2 | a0001c0001t0015g0069 a0001c0002t0015g0057 |
2 | HG01106.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.12334-1447T>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12454551 | |||||||
| chr1:12454631 | T | A | 1 | a0001c0001t0002g0034 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.12334-1367T>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12454631 | |||||||
| chr1:12454691 | C | T | 5 | a0001c0021t0013g0046 a0003c0007t0007g0150 a0003c0007t0007g0151 others(2): Show |
5 | HG01109.hp1 HG01884.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.12334-1307C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12454691 | |||||||
| chr1:12455535 | C | T | 3 | a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 |
3 | HG01433.hp1 HG01891.hp1 HG02486.hp1 |
intron_variant | MODIFIER | c.12334-463C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12455535 | |||||||
| chr1:12455570 | CA | C | 17 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(14): Show |
17 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(14): Show |
intron_variant | MODIFIER | c.12334-426delA | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | INFO_REALIGN_3_PRIME | chr1 | 12455570 | ||||||
| chr1:12455657 | G | A | 3 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 |
3 | HG02717.hp1 HG03195.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.12334-341G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12455657 | |||||||
| chr1:12455683 | C | G | 1 | a0001c0005t0002g0068 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.12334-315C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12455683 | |||||||
| chr1:12455801 | C | G | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.12334-197C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12455801 | |||||||
| chr1:12456218 | G | C | 1 | a0001c0006t0003g0007 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.12466+88G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 66/69 | chr1 | 12456218 | |||||||
| chr1:12456232 | G | C | 13 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.12466+102G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 66/69 | chr1 | 12456232 | |||||||
| chr1:12456239 | C | A | 13 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.12466+109C>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 66/69 | chr1 | 12456239 | |||||||
| chr1:12456510 | T | C | 75 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(72): Show |
75 | HG00408.hp2 HG00438.hp2 HG01099.hp2 others(72): Show |
intron_variant | MODIFIER | c.12466+380T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 66/69 | chr1 | 12456510 | |||||||
| chr1:12456636 | CA | C | 74 | a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0037 others(71): Show |
74 | HG00408.hp1 HG00438.hp1 HG01071.hp2 others(71): Show |
intron_variant | MODIFIER | c.12466+530delA | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 66/69 | INFO_REALIGN_3_PRIME | chr1 | 12456636 | ||||||
| chr1:12456636 | CAA | C | 46 | a0001c0001t0001g0109 a0001c0001t0002g0034 a0001c0001t0002g0042 others(43): Show |
46 | HG00408.hp2 HG00438.hp2 HG01256.hp1 others(43): Show |
intron_variant | MODIFIER | c.12466+529_12466+53 others(6): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 66/69 | INFO_REALIGN_3_PRIME | chr1 | 12456636 | ||||||
| chr1:12456636 | CAAAAAAA others(1): Show |
C | 13 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.12466+523_12466+53 others(12): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 66/69 | INFO_REALIGN_3_PRIME | chr1 | 12456636 | ||||||
| chr1:12456636 | CAAAAAAA others(4): Show |
C | 3 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 |
3 | HG02717.hp1 HG03195.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.12466+520_12466+53 others(15): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 66/69 | INFO_REALIGN_3_PRIME | chr1 | 12456636 | ||||||
| chr1:12456636 | CAAAAAAA others(5): Show |
C | 3 | a0002c0004t0001g0094 a0002c0004t0001g0095 a0014c0020t0023g0077 |
3 | HG01071.hp1 HG01099.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.12466+519_12466+53 others(16): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 66/69 | INFO_REALIGN_3_PRIME | chr1 | 12456636 | ||||||
| chr1:12456712 | C | T | 2 | a0001c0001t0001g0146 a0001c0001t0001g0147 |
2 | HG03017.hp2 HG03491.hp1 |
intron_variant | MODIFIER | c.12466+582C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 66/69 | chr1 | 12456712 | |||||||
| chr1:12456775 | G | A | 1 | a0007c0029t0011g0144 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.12466+645G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 66/69 | chr1 | 12456775 | |||||||
| chr1:12457020 | A | G | 3 | a0001c0001t0012g0119 a0001c0001t0012g0121 a0001c0014t0012g0075 |
3 | HG00408.hp1 HG01256.hp2 HG02004.hp1 |
intron_variant | MODIFIER | c.12466+890A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 66/69 | chr1 | 12457020 | |||||||
| chr1:12457078 | G | A | 1 | a0001c0001t0006g0138 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.12466+948G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 66/69 | chr1 | 12457078 | |||||||
| chr1:12457572 | T | C | 1 | a0014c0020t0023g0077 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.12466+1442T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 66/69 | chr1 | 12457572 | |||||||
| chr1:12457585 | A | G | 1 | a0001c0001t0001g0084 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.12466+1455A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 66/69 | chr1 | 12457585 | |||||||
| chr1:12457648 | G | A | 1 | a0001c0003t0016g0063 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.12466+1518G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 66/69 | chr1 | 12457648 | |||||||
| chr1:12457728 | A | G | 10 | a0001c0001t0009g0027 a0001c0002t0002g0024 a0001c0002t0002g0028 others(7): Show |
10 | HG00408.hp2 HG00438.hp2 HG02165.hp1 others(7): Show |
intron_variant | MODIFIER | c.12466+1598A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 66/69 | chr1 | 12457728 | |||||||
| chr1:12457796 | C | T | 1 | a0001c0001t0001g0108 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.12466+1666C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 66/69 | chr1 | 12457796 | |||||||
| chr1:12457819 | T | C | 3 | a0001c0001t0015g0069 a0001c0002t0004g0047 a0001c0002t0015g0057 |
3 | HG01106.hp1 HG03098.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.12466+1689T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 66/69 | chr1 | 12457819 | |||||||
| chr1:12458011 | G | A | 1 | a0001c0006t0003g0009 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.12466+1881G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 66/69 | chr1 | 12458011 | |||||||
| chr1:12458373 | T | C | 2 | a0001c0002t0007g0066 a0001c0012t0002g0074 |
2 | HG01243.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.12467-1828T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 66/69 | chr1 | 12458373 | |||||||
| chr1:12458416 | G | A | 4 | a0001c0003t0005g0050 a0001c0003t0005g0051 a0001c0003t0005g0052 others(1): Show |
4 | NA18971.hp2 NA18977.hp1 NA19010.hp2 others(1): Show |
intron_variant | MODIFIER | c.12467-1785G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 66/69 | chr1 | 12458416 | |||||||
| chr1:12458514 | C | T | 2 | a0001c0001t0016g0032 a0018c0015t0024g0001 |
2 | HG02970.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.12467-1687C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 66/69 | chr1 | 12458514 | |||||||
| chr1:12458707 | G | A | 1 | a0001c0002t0009g0025 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.12467-1494G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 66/69 | chr1 | 12458707 | |||||||
| chr1:12459050 | C | T | 3 | a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0101 |
3 | NA18959.hp1 NA19068.hp2 NA19070.hp1 |
intron_variant | MODIFIER | c.12467-1151C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 66/69 | chr1 | 12459050 | |||||||
| chr1:12459482 | C | CT | 7 | a0001c0001t0002g0064 a0002c0004t0001g0094 a0002c0004t0001g0095 others(4): Show |
7 | HG01071.hp1 HG01099.hp1 HG02717.hp1 others(4): Show |
intron_variant | MODIFIER | c.12467-702dupT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 66/69 | INFO_REALIGN_3_PRIME | chr1 | 12459482 | ||||||
| chr1:12459482 | C | CTT | 6 | a0001c0002t0007g0066 a0001c0021t0013g0046 a0003c0007t0007g0150 others(3): Show |
6 | HG01109.hp1 HG01884.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.12467-703_12467-70 others(6): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 66/69 | INFO_REALIGN_3_PRIME | chr1 | 12459482 | ||||||
| chr1:12459482 | CT | C | 14 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(11): Show |
14 | HG01099.hp2 HG01243.hp1 HG01255.hp2 others(11): Show |
intron_variant | MODIFIER | c.12467-702delT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 66/69 | INFO_REALIGN_3_PRIME | chr1 | 12459482 | ||||||
| chr1:12459487 | T | C | 3 | a0001c0003t0002g0055 a0001c0003t0002g0056 a0001c0005t0002g0068 |
3 | HG02809.hp1 NA18951.hp1 NA19070.hp2 |
intron_variant | MODIFIER | c.12467-714T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 66/69 | chr1 | 12459487 | |||||||
| chr1:12459535 | A | G | 1 | a0001c0001t0004g0082 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.12467-666A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 66/69 | chr1 | 12459535 | |||||||
| chr1:12459635 | C | T | 1 | a0001c0002t0008g0044 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.12467-566C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 66/69 | chr1 | 12459635 | |||||||
| chr1:12459769 | G | A | 1 | a0002c0004t0001g0135 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.12467-432G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 66/69 | chr1 | 12459769 | |||||||
| chr1:12459896 | C | T | 1 | a0001c0001t0004g0136 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.12467-305C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 66/69 | chr1 | 12459896 | |||||||
| chr1:12459948 | A | AT | 6 | a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0101 others(3): Show |
6 | HG02735.hp2 HG02976.hp2 HG03486.hp2 others(3): Show |
intron_variant | MODIFIER | c.12467-232dupT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 66/69 | INFO_REALIGN_3_PRIME | chr1 | 12459948 | ||||||
| chr1:12459948 | AT | A | 7 | a0001c0001t0001g0086 a0001c0001t0001g0112 a0001c0001t0011g0107 others(4): Show |
7 | HG02273.hp2 HG02523.hp1 HG03225.hp1 others(4): Show |
intron_variant | MODIFIER | c.12467-232delT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 66/69 | INFO_REALIGN_3_PRIME | chr1 | 12459948 | ||||||
| chr1:12459948 | ATT | A | 55 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(52): Show |
55 | HG00408.hp2 HG00438.hp2 HG01106.hp1 others(52): Show |
intron_variant | MODIFIER | c.12467-233_12467-23 others(6): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 66/69 | INFO_REALIGN_3_PRIME | chr1 | 12459948 | ||||||
| chr1:12460017 | T | G | 3 | a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0021g0122 |
3 | HG02572.hp1 HG03486.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.12467-184T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 66/69 | chr1 | 12460017 | |||||||
| chr1:12460110 | T | C | 2 | a0001c0001t0011g0107 a0001c0011t0018g0015 |
2 | HG03225.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.12467-91T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 66/69 | chr1 | 12460110 | |||||||
| chr1:12460148 | T | C | 1 | a0002c0004t0001g0081 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.12467-53T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 66/69 | chr1 | 12460148 | |||||||
| chr1:12460850 | T | A | 9 | a0001c0002t0007g0066 a0001c0021t0013g0046 a0003c0007t0007g0150 others(6): Show |
9 | HG01109.hp1 HG01884.hp1 HG02622.hp1 others(6): Show |
intron_variant | MODIFIER | c.12662+454T>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12460850 | |||||||
| chr1:12460895 | C | T | 3 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 |
3 | HG02717.hp1 HG03195.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.12662+499C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12460895 | |||||||
| chr1:12460896 | G | A | 1 | a0001c0001t0006g0137 | 1 | NA18974.hp2 | intron_variant | MODIFIER | c.12662+500G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12460896 | |||||||
| chr1:12460915 | A | T | 1 | a0014c0020t0023g0077 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.12662+519A>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12460915 | |||||||
| chr1:12460974 | G | A | 1 | a0002c0004t0001g0103 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.12662+578G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12460974 | |||||||
| chr1:12461007 | T | G | 2 | a0001c0001t0016g0032 a0018c0015t0024g0001 |
2 | HG02970.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.12662+611T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12461007 | |||||||
| chr1:12461032 | T | A | 9 | a0001c0002t0007g0066 a0001c0021t0013g0046 a0003c0007t0007g0150 others(6): Show |
9 | HG01109.hp1 HG01884.hp1 HG02622.hp1 others(6): Show |
intron_variant | MODIFIER | c.12662+636T>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12461032 | |||||||
| chr1:12461207 | T | C | 26 | a0001c0001t0010g0120 a0001c0001t0016g0032 a0001c0002t0007g0066 others(23): Show |
26 | HG01099.hp2 HG01109.hp1 HG01243.hp1 others(23): Show |
intron_variant | MODIFIER | c.12662+811T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12461207 | |||||||
| chr1:12461840 | C | T | 1 | a0001c0002t0004g0047 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.12662+1444C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12461840 | |||||||
| chr1:12462253 | G | C | 19 | a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0097 others(16): Show |
19 | HG00438.hp1 HG01071.hp2 HG01109.hp2 others(16): Show |
intron_variant | MODIFIER | c.12662+1857G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12462253 | |||||||
| chr1:12462351 | C | G | 1 | a0001c0003t0005g0048 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.12662+1955C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12462351 | |||||||
| chr1:12462590 | A | G | 1 | a0002c0004t0001g0081 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.12662+2194A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12462590 | |||||||
| chr1:12462671 | T | C | 3 | a0001c0001t0015g0069 a0001c0002t0004g0047 a0001c0002t0015g0057 |
3 | HG01106.hp1 HG03098.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.12662+2275T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12462671 | |||||||
| chr1:12462753 | A | G | 1 | a0001c0003t0016g0063 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.12662+2357A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12462753 | |||||||
| chr1:12463075 | A | C | 10 | a0001c0011t0011g0016 a0001c0013t0001g0065 a0001c0013t0001g0073 others(7): Show |
10 | HG01109.hp1 HG01884.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.12662+2679A>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12463075 | |||||||
| chr1:12463525 | A | C | 1 | a0001c0008t0003g0011 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.12662+3129A>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12463525 | |||||||
| chr1:12463641 | G | C | 2 | a0001c0001t0001g0109 a0001c0001t0001g0110 |
2 | NA18971.hp1 NA19063.hp2 |
intron_variant | MODIFIER | c.12662+3245G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12463641 | |||||||
| chr1:12463723 | C | G | 1 | a0002c0004t0001g0103 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.12662+3327C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12463723 | |||||||
| chr1:12463724 | C | T | 1 | a0002c0004t0001g0103 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.12662+3328C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12463724 | |||||||
| chr1:12463725 | A | T | 1 | a0002c0004t0001g0103 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.12662+3329A>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12463725 | |||||||
| chr1:12463825 | C | T | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.12662+3429C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12463825 | |||||||
| chr1:12464427 | G | A | 1 | a0001c0002t0027g0031 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.12662+4031G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12464427 | |||||||
| chr1:12464590 | T | G | 1 | a0001c0001t0012g0119 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.12662+4194T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12464590 | |||||||
| chr1:12464597 | T | C | 8 | a0002c0004t0001g0081 a0002c0004t0001g0090 a0002c0004t0001g0094 others(5): Show |
8 | HG01071.hp1 HG01099.hp1 HG02056.hp2 others(5): Show |
intron_variant | MODIFIER | c.12662+4201T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12464597 | |||||||
| chr1:12465104 | A | G | 1 | a0001c0001t0001g0023 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.12662+4708A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12465104 | |||||||
| chr1:12465186 | A | G | 3 | a0001c0001t0009g0027 a0001c0002t0009g0014 a0001c0002t0009g0030 |
3 | HG00408.hp2 HG00438.hp2 NA18943.hp2 |
intron_variant | MODIFIER | c.12662+4790A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12465186 | |||||||
| chr1:12465514 | G | A | 1 | a0001c0002t0002g0045 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.12662+5118G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12465514 | |||||||
| chr1:12465656 | C | T | 1 | a0001c0012t0008g0067 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.12662+5260C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12465656 | |||||||
| chr1:12465702 | A | G | 1 | a0001c0001t0001g0037 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.12662+5306A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12465702 | |||||||
| chr1:12465864 | T | C | 21 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(18): Show |
21 | HG01099.hp2 HG01109.hp1 HG01243.hp1 others(18): Show |
intron_variant | MODIFIER | c.12662+5468T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12465864 | |||||||
| chr1:12466001 | G | A | 1 | a0001c0003t0005g0049 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.12662+5605G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12466001 | |||||||
| chr1:12466006 | G | A | 3 | a0001c0001t0015g0069 a0001c0002t0004g0047 a0001c0002t0015g0057 |
3 | HG01106.hp1 HG03098.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.12662+5610G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12466006 | |||||||
| chr1:12466133 | A | T | 3 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 |
3 | HG02717.hp1 HG03195.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.12662+5737A>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12466133 | |||||||
| chr1:12466255 | G | C | 6 | a0001c0003t0002g0061 a0001c0005t0002g0059 a0001c0005t0002g0062 others(3): Show |
6 | HG01884.hp2 HG02486.hp2 HG02572.hp2 others(3): Show |
intron_variant | MODIFIER | c.12662+5859G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12466255 | |||||||
| chr1:12466265 | A | G | 1 | a0014c0020t0023g0077 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.12662+5869A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12466265 | |||||||
| chr1:12466404 | C | G | 20 | a0001c0001t0010g0120 a0001c0001t0016g0032 a0001c0006t0003g0004 others(17): Show |
20 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(17): Show |
intron_variant | MODIFIER | c.12662+6008C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12466404 | |||||||
| chr1:12466475 | C | T | 1 | a0001c0009t0004g0018 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.12662+6079C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12466475 | |||||||
| chr1:12466603 | C | A | 1 | a0005c0010t0008g0071 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.12662+6207C>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12466603 | |||||||
| chr1:12466652 | A | ATATGTAT others(8): Show |
1 | a0014c0020t0023g0077 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.12662+6256_12662+6 others(21): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12466652 | |||||||
| chr1:12466654 | C | T | 1 | a0014c0020t0023g0077 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.12662+6258C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12466654 | |||||||
| chr1:12466657 | C | A | 1 | a0014c0020t0023g0077 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.12662+6261C>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12466657 | |||||||
| chr1:12466658 | C | T | 1 | a0014c0020t0023g0077 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.12662+6262C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12466658 | |||||||
| chr1:12466725 | A | G | 132 | a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 others(129): Show |
132 | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(129): Show |
intron_variant | MODIFIER | c.12662+6329A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12466725 | |||||||
| chr1:12467241 | G | A | 1 | a0001c0003t0017g0054 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.12662+6845G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12467241 | |||||||
| chr1:12467341 | C | T | 1 | a0001c0001t0001g0092 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.12662+6945C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12467341 | |||||||
| chr1:12467458 | C | T | 1 | a0001c0001t0004g0126 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.12662+7062C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12467458 | |||||||
| chr1:12467543 | G | A | 2 | a0002c0004t0001g0094 a0002c0004t0001g0095 |
2 | HG01071.hp1 HG01099.hp1 |
intron_variant | MODIFIER | c.12662+7147G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12467543 | |||||||
| chr1:12467759 | A | G | 1 | a0001c0001t0001g0037 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.12662+7363A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12467759 | |||||||
| chr1:12468617 | G | A | 17 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(14): Show |
17 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(14): Show |
intron_variant | MODIFIER | c.12662+8221G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12468617 | |||||||
| chr1:12468745 | A | G | 13 | a0001c0001t0011g0107 a0001c0002t0007g0066 a0001c0011t0011g0016 others(10): Show |
13 | HG01109.hp1 HG01884.hp1 HG01891.hp2 others(10): Show |
intron_variant | MODIFIER | c.12662+8349A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12468745 | |||||||
| chr1:12468824 | C | G | 1 | a0002c0004t0025g0118 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.12662+8428C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12468824 | |||||||
| chr1:12469038 | G | GA | 7 | a0001c0002t0007g0066 a0001c0012t0008g0067 a0001c0021t0013g0046 others(4): Show |
7 | HG01109.hp1 HG01884.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.12662+8655dupA | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | INFO_REALIGN_3_PRIME | chr1 | 12469038 | ||||||
| chr1:12469052 | C | A | 3 | a0001c0001t0001g0123 a0002c0004t0001g0094 a0002c0004t0001g0095 |
3 | HG01071.hp1 HG01099.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.12662+8656C>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12469052 | |||||||
| chr1:12469060 | T | G | 2 | a0001c0005t0001g0132 a0001c0005t0004g0111 |
2 | HG02683.hp2 HG02738.hp1 |
intron_variant | MODIFIER | c.12662+8664T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12469060 | |||||||
| chr1:12469173 | G | C | 1 | a0001c0009t0022g0076 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.12662+8777G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12469173 | |||||||
| chr1:12469204 | T | A | 1 | a0001c0001t0002g0140 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.12662+8808T>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12469204 | |||||||
| chr1:12469303 | C | T | 3 | a0001c0001t0004g0148 a0001c0002t0007g0066 a0001c0012t0002g0074 |
3 | HG01243.hp2 HG02622.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.12662+8907C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12469303 | |||||||
| chr1:12470271 | G | A | 1 | a0001c0001t0001g0109 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.12662+9875G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12470271 | |||||||
| chr1:12470337 | G | C | 1 | a0012c0028t0013g0141 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.12662+9941G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12470337 | |||||||
| chr1:12470376 | C | T | 1 | a0002c0004t0001g0081 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.12662+9980C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12470376 | |||||||
| chr1:12470378 | C | T | 1 | a0001c0009t0004g0018 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.12662+9982C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12470378 | |||||||
| chr1:12470534 | A | G | 1 | a0014c0020t0023g0077 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.12662+10138A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12470534 | |||||||
| chr1:12470727 | C | T | 13 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.12662+10331C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12470727 | |||||||
| chr1:12470872 | C | G | 2 | a0001c0001t0011g0107 a0001c0011t0018g0015 |
2 | HG03225.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.12662+10476C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12470872 | |||||||
| chr1:12470872 | C | T | 3 | a0001c0001t0015g0069 a0001c0002t0004g0047 a0001c0002t0015g0057 |
3 | HG01106.hp1 HG03098.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.12662+10476C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12470872 | |||||||
| chr1:12471029 | T | C | 42 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(39): Show |
42 | HG00408.hp2 HG00438.hp2 HG01256.hp1 others(39): Show |
intron_variant | MODIFIER | c.12662+10633T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12471029 | |||||||
| chr1:12471030 | G | A | 1 | a0001c0003t0016g0063 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.12662+10634G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12471030 | |||||||
| chr1:12472011 | A | C | 18 | a0001c0001t0010g0120 a0001c0001t0021g0122 a0001c0006t0003g0004 others(15): Show |
18 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(15): Show |
intron_variant | MODIFIER | c.12662+11615A>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12472011 | |||||||
| chr1:12472246 | A | G | 1 | a0013c0027t0001g0105 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.12662+11850A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12472246 | |||||||
| chr1:12472247 | T | C | 1 | a0001c0002t0007g0066 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.12662+11851T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12472247 | |||||||
| chr1:12472284 | G | A | 1 | a0001c0001t0001g0037 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.12662+11888G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12472284 | |||||||
| chr1:12472534 | G | T | 1 | a0002c0004t0001g0103 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.12662+12138G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12472534 | |||||||
| chr1:12472564 | C | T | 4 | a0001c0001t0004g0148 a0001c0002t0007g0066 a0001c0012t0002g0074 others(1): Show |
4 | HG01243.hp2 HG02622.hp2 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.12662+12168C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12472564 | |||||||
| chr1:12473401 | C | T | 18 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(15): Show |
18 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(15): Show |
intron_variant | MODIFIER | c.12662+13005C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12473401 | |||||||
| chr1:12473413 | T | C | 3 | a0001c0001t0012g0119 a0001c0001t0012g0121 a0001c0014t0012g0075 |
3 | HG00408.hp1 HG01256.hp2 HG02004.hp1 |
intron_variant | MODIFIER | c.12662+13017T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12473413 | |||||||
| chr1:12473560 | C | T | 2 | a0001c0001t0001g0098 a0001c0013t0001g0065 |
2 | HG03195.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.12662+13164C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12473560 | |||||||
| chr1:12473574 | G | A | 18 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(15): Show |
18 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(15): Show |
intron_variant | MODIFIER | c.12662+13178G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12473574 | |||||||
| chr1:12473986 | G | C | 1 | a0001c0003t0001g0058 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.12662+13590G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12473986 | |||||||
| chr1:12474035 | C | T | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.12662+13639C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12474035 | |||||||
| chr1:12474097 | G | A | 8 | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0013 others(5): Show |
8 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(5): Show |
intron_variant | MODIFIER | c.12662+13701G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12474097 | |||||||
| chr1:12474215 | C | T | 4 | a0001c0011t0011g0016 a0003c0007t0007g0154 a0007c0029t0011g0144 others(1): Show |
4 | HG01891.hp2 HG02895.hp1 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.12662+13819C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12474215 | |||||||
| chr1:12474706 | T | A | 3 | a0001c0001t0004g0148 a0001c0002t0007g0066 a0001c0012t0002g0074 |
3 | HG01243.hp2 HG02622.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.12662+14310T>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12474706 | |||||||
| chr1:12474714 | A | G | 1 | a0002c0004t0001g0103 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.12662+14318A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12474714 | |||||||
| chr1:12474720 | A | G | 1 | a0001c0001t0004g0139 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.12662+14324A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12474720 | |||||||
| chr1:12475004 | A | G | 1 | a0014c0020t0023g0077 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.12662+14608A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12475004 | |||||||
| chr1:12475310 | A | G | 2 | a0001c0001t0011g0107 a0001c0011t0018g0015 |
2 | HG03225.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.12662+14914A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12475310 | |||||||
| chr1:12475323 | T | C | 1 | a0001c0001t0021g0122 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.12662+14927T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12475323 | |||||||
| chr1:12475483 | G | GCAGC | 3 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 |
3 | HG02717.hp1 HG03195.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.12662+15089_12662+ others(12): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | INFO_REALIGN_3_PRIME | chr1 | 12475483 | ||||||
| chr1:12475607 | A | G | 13 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.12662+15211A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12475607 | |||||||
| chr1:12475685 | G | C | 1 | a0001c0001t0021g0122 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.12662+15289G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12475685 | |||||||
| chr1:12475718 | C | A | 1 | a0001c0003t0017g0054 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.12662+15322C>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12475718 | |||||||
| chr1:12475873 | C | T | 1 | a0001c0001t0012g0119 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.12662+15477C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12475873 | |||||||
| chr1:12475888 | TA | T | 17 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(14): Show |
17 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(14): Show |
intron_variant | MODIFIER | c.12662+15505delA | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | INFO_REALIGN_3_PRIME | chr1 | 12475888 | ||||||
| chr1:12475895 | A | C | 3 | a0001c0001t0002g0042 a0001c0002t0002g0040 a0001c0002t0002g0041 |
3 | HG03017.hp1 HG03491.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.12662+15499A>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12475895 | |||||||
| chr1:12476812 | C | G | 1 | a0001c0005t0002g0068 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.12662+16416C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12476812 | |||||||
| chr1:12476955 | G | A | 3 | a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0101 |
3 | NA18959.hp1 NA19068.hp2 NA19070.hp1 |
intron_variant | MODIFIER | c.12662+16559G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12476955 | |||||||
| chr1:12477133 | G | T | 1 | a0001c0001t0006g0130 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.12662+16737G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12477133 | |||||||
| chr1:12477257 | A | AT | 59 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(56): Show |
59 | HG00408.hp2 HG00438.hp2 HG01109.hp1 others(56): Show |
intron_variant | MODIFIER | c.12662+16867dupT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | INFO_REALIGN_3_PRIME | chr1 | 12477257 | ||||||
| chr1:12477749 | C | T | 13 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.12662+17353C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12477749 | |||||||
| chr1:12477785 | G | A | 1 | a0001c0002t0004g0047 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.12662+17389G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12477785 | |||||||
| chr1:12477891 | G | A | 20 | a0001c0001t0010g0120 a0001c0001t0016g0032 a0001c0006t0003g0004 others(17): Show |
20 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(17): Show |
intron_variant | MODIFIER | c.12662+17495G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12477891 | |||||||
| chr1:12478000 | T | C | 1 | a0002c0004t0001g0135 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.12662+17604T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12478000 | |||||||
| chr1:12478149 | C | A | 3 | a0001c0001t0012g0119 a0001c0001t0012g0121 a0001c0014t0012g0075 |
3 | HG00408.hp1 HG01256.hp2 HG02004.hp1 |
intron_variant | MODIFIER | c.12662+17753C>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12478149 | |||||||
| chr1:12478335 | G | A | 1 | a0001c0009t0022g0076 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.12662+17939G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12478335 | |||||||
| chr1:12478346 | A | G | 2 | a0001c0011t0011g0016 a0003c0007t0007g0154 |
2 | HG02895.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.12662+17950A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12478346 | |||||||
| chr1:12478359 | G | A | 2 | a0001c0011t0011g0016 a0003c0007t0007g0154 |
2 | HG02895.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.12662+17963G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12478359 | |||||||
| chr1:12478596 | A | G | 3 | a0001c0001t0004g0148 a0001c0002t0007g0066 a0001c0012t0002g0074 |
3 | HG01243.hp2 HG02622.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.12662+18200A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12478596 | |||||||
| chr1:12478671 | G | A | 48 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(45): Show |
48 | HG00408.hp2 HG00438.hp2 HG01255.hp2 others(45): Show |
intron_variant | MODIFIER | c.12662+18275G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12478671 | |||||||
| chr1:12478827 | C | G | 1 | a0015c0016t0026g0149 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.12662+18431C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12478827 | |||||||
| chr1:12478934 | C | T | 1 | a0001c0003t0016g0063 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.12662+18538C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12478934 | |||||||
| chr1:12478945 | C | T | 2 | a0001c0005t0001g0132 a0001c0005t0004g0111 |
2 | HG02683.hp2 HG02738.hp1 |
intron_variant | MODIFIER | c.12662+18549C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12478945 | |||||||
| chr1:12478946 | G | A | 3 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 |
3 | HG02717.hp1 HG03195.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.12662+18550G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12478946 | |||||||
| chr1:12479003 | CAG | C | 3 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 |
3 | HG02717.hp1 HG03195.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.12663-18494_12663- others(10): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | INFO_REALIGN_3_PRIME | chr1 | 12479003 | ||||||
| chr1:12479051 | T | G | 1 | a0001c0001t0020g0078 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.12663-18449T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12479051 | |||||||
| chr1:12479194 | A | C | 1 | a0001c0001t0001g0108 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.12663-18306A>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12479194 | |||||||
| chr1:12479319 | C | T | 4 | a0001c0011t0011g0016 a0003c0007t0007g0154 a0007c0029t0011g0144 others(1): Show |
4 | HG01891.hp2 HG02895.hp1 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.12663-18181C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12479319 | |||||||
| chr1:12479585 | A | T | 3 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 |
3 | HG02717.hp1 HG03195.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.12663-17915A>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12479585 | |||||||
| chr1:12479620 | A | T | 5 | a0001c0002t0001g0006 a0001c0002t0001g0099 a0001c0002t0001g0100 others(2): Show |
5 | HG01255.hp1 HG01943.hp1 HG02300.hp1 others(2): Show |
intron_variant | MODIFIER | c.12663-17880A>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12479620 | |||||||
| chr1:12479740 | C | G | 3 | a0003c0007t0007g0151 a0003c0007t0007g0152 a0003c0007t0007g0153 |
3 | HG01884.hp1 HG02622.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.12663-17760C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12479740 | |||||||
| chr1:12480136 | T | C | 8 | a0001c0021t0013g0046 a0003c0007t0007g0150 a0003c0007t0007g0151 others(5): Show |
8 | HG01109.hp1 HG01884.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.12663-17364T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12480136 | |||||||
| chr1:12480187 | A | G | 1 | a0014c0020t0023g0077 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.12663-17313A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12480187 | |||||||
| chr1:12480249 | C | T | 1 | a0001c0002t0015g0057 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.12663-17251C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12480249 | |||||||
| chr1:12480708 | A | G | 80 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(77): Show |
80 | HG00408.hp2 HG00438.hp2 HG01099.hp2 others(77): Show |
intron_variant | MODIFIER | c.12663-16792A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12480708 | |||||||
| chr1:12480877 | T | C | 1 | a0001c0009t0022g0076 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.12663-16623T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12480877 | |||||||
| chr1:12480969 | G | A | 2 | a0001c0002t0001g0006 a0001c0024t0001g0127 |
2 | HG01943.hp1 HG02300.hp1 |
intron_variant | MODIFIER | c.12663-16531G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12480969 | |||||||
| chr1:12481129 | C | T | 18 | a0001c0001t0010g0120 a0001c0001t0021g0122 a0001c0006t0003g0004 others(15): Show |
18 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(15): Show |
intron_variant | MODIFIER | c.12663-16371C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12481129 | |||||||
| chr1:12481338 | C | T | 22 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(19): Show |
22 | HG00408.hp2 HG00438.hp2 HG02056.hp1 others(19): Show |
intron_variant | MODIFIER | c.12663-16162C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12481338 | |||||||
| chr1:12481469 | C | G | 1 | a0001c0001t0001g0145 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.12663-16031C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12481469 | |||||||
| chr1:12481825 | C | G | 2 | a0001c0001t0016g0032 a0018c0015t0024g0001 |
2 | HG02970.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.12663-15675C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12481825 | |||||||
| chr1:12481857 | G | A | 1 | a0004c0031t0014g0142 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.12663-15643G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12481857 | |||||||
| chr1:12482035 | G | A | 1 | a0001c0001t0021g0122 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.12663-15465G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12482035 | |||||||
| chr1:12482363 | C | T | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.12663-15137C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12482363 | |||||||
| chr1:12482388 | C | T | 1 | a0001c0001t0004g0136 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.12663-15112C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12482388 | |||||||
| chr1:12482675 | A | G | 3 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 |
3 | HG02717.hp1 HG03195.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.12663-14825A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12482675 | |||||||
| chr1:12482703 | A | T | 1 | a0001c0001t0012g0121 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.12663-14797A>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12482703 | |||||||
| chr1:12482720 | G | GTA | 9 | a0001c0001t0009g0027 a0001c0002t0002g0024 a0001c0002t0002g0028 others(6): Show |
9 | HG00408.hp2 HG00438.hp2 NA18943.hp2 others(6): Show |
intron_variant | MODIFIER | c.12663-14774_12663- others(10): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | INFO_REALIGN_3_PRIME | chr1 | 12482720 | ||||||
| chr1:12482739 | C | CTAGTATA others(14): Show |
19 | a0001c0001t0001g0116 a0001c0001t0002g0072 a0001c0001t0010g0120 others(16): Show |
19 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(16): Show |
intron_variant | MODIFIER | c.12663-14725_12663- others(29): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | INFO_REALIGN_3_PRIME | chr1 | 12482739 | ||||||
| chr1:12482739 | C | CTAGTATA others(35): Show |
20 | a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0064 others(17): Show |
20 | HG00408.hp2 HG00438.hp2 HG02071.hp2 others(17): Show |
intron_variant | MODIFIER | c.12663-14746_12663- others(50): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | INFO_REALIGN_3_PRIME | chr1 | 12482739 | ||||||
| chr1:12482739 | C | CTAGTATA others(77): Show |
3 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0009c0022t0002g0033 |
3 | HG02056.hp1 HG02735.hp1 NA18968.hp2 |
intron_variant | MODIFIER | c.12663-14705_12663- others(92): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | INFO_REALIGN_3_PRIME | chr1 | 12482739 | ||||||
| chr1:12482739 | CTAGTATA others(14): Show |
C | 2 | a0001c0001t0001g0037 a0002c0004t0001g0081 |
2 | HG02965.hp1 NA18943.hp1 |
intron_variant | MODIFIER | c.12663-14725_12663- others(29): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | INFO_REALIGN_3_PRIME | chr1 | 12482739 | ||||||
| chr1:12482770 | TATATGTA others(12): Show |
T | 1 | a0001c0001t0020g0078 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.12663-14725_12663- others(27): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | INFO_REALIGN_3_PRIME | chr1 | 12482770 | ||||||
| chr1:12482866 | C | T | 1 | a0001c0001t0002g0140 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.12663-14634C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12482866 | |||||||
| chr1:12482909 | A | G | 1 | a0001c0003t0016g0063 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.12663-14591A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12482909 | |||||||
| chr1:12482947 | C | G | 1 | a0001c0001t0021g0122 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.12663-14553C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12482947 | |||||||
| chr1:12483487 | G | T | 1 | a0018c0015t0024g0001 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.12663-14013G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12483487 | |||||||
| chr1:12483713 | G | T | 3 | a0001c0001t0015g0069 a0001c0002t0004g0047 a0001c0002t0015g0057 |
3 | HG01106.hp1 HG03098.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.12663-13787G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12483713 | |||||||
| chr1:12483738 | G | A | 2 | a0001c0001t0016g0032 a0018c0015t0024g0001 |
2 | HG02970.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.12663-13762G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12483738 | |||||||
| chr1:12484276 | G | A | 1 | a0005c0010t0008g0071 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.12663-13224G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12484276 | |||||||
| chr1:12484328 | CT | C | 2 | a0001c0001t0001g0125 a0001c0001t0004g0139 |
2 | HG02523.hp2 NA18977.hp2 |
intron_variant | MODIFIER | c.12663-13171delT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12484328 | |||||||
| chr1:12484331 | C | A | 2 | a0001c0001t0001g0125 a0001c0001t0004g0139 |
2 | HG02523.hp2 NA18977.hp2 |
intron_variant | MODIFIER | c.12663-13169C>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12484331 | |||||||
| chr1:12484627 | C | G | 13 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.12663-12873C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12484627 | |||||||
| chr1:12484673 | G | A | 2 | a0001c0001t0004g0148 a0001c0012t0002g0074 |
2 | HG01243.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.12663-12827G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12484673 | |||||||
| chr1:12484705 | G | C | 3 | a0001c0001t0004g0148 a0001c0002t0007g0066 a0001c0012t0002g0074 |
3 | HG01243.hp2 HG02622.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.12663-12795G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12484705 | |||||||
| chr1:12484828 | G | A | 1 | a0014c0020t0023g0077 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.12663-12672G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12484828 | |||||||
| chr1:12484950 | G | A | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.12663-12550G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12484950 | |||||||
| chr1:12485147 | A | T | 1 | a0001c0009t0004g0018 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.12663-12353A>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12485147 | |||||||
| chr1:12485262 | C | T | 3 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 |
3 | HG02717.hp1 HG03195.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.12663-12238C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12485262 | |||||||
| chr1:12485282 | G | A | 1 | a0014c0020t0023g0077 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.12663-12218G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12485282 | |||||||
| chr1:12485404 | C | T | 1 | a0001c0009t0022g0076 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.12663-12096C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12485404 | |||||||
| chr1:12485444 | A | G | 1 | a0001c0001t0021g0122 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.12663-12056A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12485444 | |||||||
| chr1:12485468 | G | A | 1 | a0001c0001t0021g0122 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.12663-12032G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12485468 | |||||||
| chr1:12486066 | A | C | 17 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(14): Show |
17 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(14): Show |
intron_variant | MODIFIER | c.12663-11434A>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12486066 | |||||||
| chr1:12486511 | G | C | 17 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(14): Show |
17 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(14): Show |
intron_variant | MODIFIER | c.12663-10989G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12486511 | |||||||
| chr1:12486639 | C | T | 8 | a0002c0004t0001g0081 a0002c0004t0001g0090 a0002c0004t0001g0094 others(5): Show |
8 | HG01071.hp1 HG01099.hp1 HG02056.hp2 others(5): Show |
intron_variant | MODIFIER | c.12663-10861C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12486639 | |||||||
| chr1:12486736 | G | A | 1 | a0014c0020t0023g0077 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.12663-10764G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12486736 | |||||||
| chr1:12486743 | T | G | 18 | a0001c0001t0010g0120 a0001c0001t0021g0122 a0001c0006t0003g0004 others(15): Show |
18 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(15): Show |
intron_variant | MODIFIER | c.12663-10757T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12486743 | |||||||
| chr1:12486752 | G | A | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.12663-10748G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12486752 | |||||||
| chr1:12486793 | G | C | 131 | a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 others(128): Show |
131 | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(128): Show |
intron_variant | MODIFIER | c.12663-10707G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12486793 | |||||||
| chr1:12486798 | G | A | 1 | a0001c0001t0001g0085 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.12663-10702G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12486798 | |||||||
| chr1:12486891 | C | T | 17 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(14): Show |
17 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(14): Show |
intron_variant | MODIFIER | c.12663-10609C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12486891 | |||||||
| chr1:12487180 | C | T | 1 | a0001c0001t0002g0140 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.12663-10320C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12487180 | |||||||
| chr1:12487477 | G | A | 1 | a0002c0004t0001g0133 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.12663-10023G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12487477 | |||||||
| chr1:12487542 | T | C | 22 | a0001c0001t0010g0120 a0001c0002t0007g0066 a0001c0006t0003g0004 others(19): Show |
22 | HG01099.hp2 HG01109.hp1 HG01243.hp1 others(19): Show |
intron_variant | MODIFIER | c.12663-9958T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12487542 | |||||||
| chr1:12487610 | C | CA | 6 | a0001c0001t0002g0034 a0001c0001t0016g0032 a0001c0002t0008g0044 others(3): Show |
6 | HG02056.hp1 HG02071.hp2 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.12663-9875dupA | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | INFO_REALIGN_3_PRIME | chr1 | 12487610 | ||||||
| chr1:12487624 | A | AAAAG | 23 | a0001c0001t0010g0120 a0001c0002t0007g0066 a0001c0006t0003g0004 others(20): Show |
23 | HG01099.hp2 HG01109.hp1 HG01243.hp1 others(20): Show |
intron_variant | MODIFIER | c.12663-9875_12663-9 others(10): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | INFO_REALIGN_3_PRIME | chr1 | 12487624 | ||||||
| chr1:12487746 | CAGTT | C | 3 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 |
3 | HG02717.hp1 HG03195.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.12663-9751_12663-9 others(10): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | INFO_REALIGN_3_PRIME | chr1 | 12487746 | ||||||
| chr1:12487804 | A | G | 1 | a0001c0001t0011g0107 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.12663-9696A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12487804 | |||||||
| chr1:12487888 | T | C | 1 | a0001c0002t0001g0089 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.12663-9612T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12487888 | |||||||
| chr1:12487948 | G | A | 26 | a0001c0001t0010g0120 a0001c0001t0016g0032 a0001c0002t0007g0066 others(23): Show |
26 | HG01099.hp2 HG01109.hp1 HG01243.hp1 others(23): Show |
intron_variant | MODIFIER | c.12663-9552G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12487948 | |||||||
| chr1:12487986 | G | A | 1 | a0001c0001t0001g0088 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.12663-9514G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12487986 | |||||||
| chr1:12488054 | G | A | 1 | a0001c0009t0004g0018 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.12663-9446G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12488054 | |||||||
| chr1:12488327 | C | T | 1 | a0001c0005t0002g0059 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.12663-9173C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12488327 | |||||||
| chr1:12488328 | C | T | 3 | a0001c0001t0015g0069 a0001c0002t0004g0047 a0001c0002t0015g0057 |
3 | HG01106.hp1 HG03098.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.12663-9172C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12488328 | |||||||
| chr1:12488534 | AAT | A | 74 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(71): Show |
74 | HG00408.hp2 HG00438.hp2 HG01099.hp2 others(71): Show |
intron_variant | MODIFIER | c.12663-8960_12663-8 others(8): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | INFO_REALIGN_3_PRIME | chr1 | 12488534 | ||||||
| chr1:12488540 | TA | T | 2 | a0001c0001t0001g0092 a0001c0001t0001g0146 |
2 | HG03017.hp2 NA19070.hp1 |
intron_variant | MODIFIER | c.12663-8957delA | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | INFO_REALIGN_3_PRIME | chr1 | 12488540 | ||||||
| chr1:12488669 | C | CA | 6 | a0001c0002t0007g0066 a0001c0021t0013g0046 a0003c0007t0007g0150 others(3): Show |
6 | HG01109.hp1 HG01884.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.12663-8808dupA | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | INFO_REALIGN_3_PRIME | chr1 | 12488669 | ||||||
| chr1:12488669 | CA | C | 122 | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0084 others(119): Show |
122 | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(119): Show |
intron_variant | MODIFIER | c.12663-8808delA | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | INFO_REALIGN_3_PRIME | chr1 | 12488669 | ||||||
| chr1:12488669 | CAAAAAAA others(4): Show |
C | 1 | a0001c0001t0001g0088 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.12663-8818_12663-8 others(17): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | INFO_REALIGN_3_PRIME | chr1 | 12488669 | ||||||
| chr1:12488791 | C | T | 4 | a0001c0011t0011g0016 a0003c0007t0007g0154 a0007c0029t0011g0144 others(1): Show |
4 | HG01891.hp2 HG02895.hp1 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.12663-8709C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12488791 | |||||||
| chr1:12489106 | T | C | 21 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(18): Show |
21 | HG01099.hp2 HG01109.hp1 HG01243.hp1 others(18): Show |
intron_variant | MODIFIER | c.12663-8394T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12489106 | |||||||
| chr1:12489226 | G | A | 1 | a0003c0007t0007g0152 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.12663-8274G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12489226 | |||||||
| chr1:12489399 | G | C | 17 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(14): Show |
17 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(14): Show |
intron_variant | MODIFIER | c.12663-8101G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12489399 | |||||||
| chr1:12489752 | A | G | 1 | a0001c0009t0008g0017 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.12663-7748A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12489752 | |||||||
| chr1:12489765 | C | G | 2 | a0001c0002t0001g0006 a0001c0024t0001g0127 |
2 | HG01943.hp1 HG02300.hp1 |
intron_variant | MODIFIER | c.12663-7735C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12489765 | |||||||
| chr1:12490194 | G | A | 1 | a0001c0003t0001g0058 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.12663-7306G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12490194 | |||||||
| chr1:12490199 | G | A | 1 | a0001c0001t0001g0113 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.12663-7301G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12490199 | |||||||
| chr1:12490290 | A | G | 13 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.12663-7210A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12490290 | |||||||
| chr1:12490436 | A | G | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.12663-7064A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12490436 | |||||||
| chr1:12490478 | G | A | 1 | a0001c0009t0022g0076 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.12663-7022G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12490478 | |||||||
| chr1:12490695 | T | C | 2 | a0001c0001t0011g0107 a0001c0011t0018g0015 |
2 | HG03225.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.12663-6805T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12490695 | |||||||
| chr1:12490708 | C | T | 1 | a0001c0001t0012g0119 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.12663-6792C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12490708 | |||||||
| chr1:12490767 | A | C | 1 | a0014c0020t0023g0077 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.12663-6733A>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12490767 | |||||||
| chr1:12490790 | C | T | 1 | a0001c0001t0001g0088 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.12663-6710C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12490790 | |||||||
| chr1:12490814 | A | G | 1 | a0001c0009t0004g0018 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.12663-6686A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12490814 | |||||||
| chr1:12490879 | G | T | 1 | a0017c0019t0001g0093 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.12663-6621G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12490879 | |||||||
| chr1:12490921 | C | T | 1 | a0001c0001t0021g0122 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.12663-6579C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12490921 | |||||||
| chr1:12491081 | G | C | 1 | a0001c0001t0021g0122 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.12663-6419G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12491081 | |||||||
| chr1:12491183 | G | C | 8 | a0001c0011t0011g0016 a0003c0007t0007g0150 a0003c0007t0007g0151 others(5): Show |
8 | HG01109.hp1 HG01884.hp1 HG01891.hp2 others(5): Show |
intron_variant | MODIFIER | c.12663-6317G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12491183 | |||||||
| chr1:12491210 | A | G | 19 | a0001c0001t0010g0120 a0001c0001t0021g0122 a0001c0006t0003g0004 others(16): Show |
19 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(16): Show |
intron_variant | MODIFIER | c.12663-6290A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12491210 | |||||||
| chr1:12491370 | A | AT | 17 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(14): Show |
17 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(14): Show |
intron_variant | MODIFIER | c.12663-6130_12663-6 others(7): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12491370 | |||||||
| chr1:12491445 | C | T | 2 | a0001c0001t0001g0123 a0001c0001t0001g0124 |
2 | HG03486.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.12663-6055C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12491445 | |||||||
| chr1:12491608 | C | T | 1 | a0001c0001t0001g0091 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.12663-5892C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12491608 | |||||||
| chr1:12491673 | G | T | 2 | a0001c0001t0001g0116 a0001c0001t0001g0117 |
2 | HG02083.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.12663-5827G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12491673 | |||||||
| chr1:12491733 | A | C | 1 | a0001c0005t0004g0060 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.12663-5767A>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12491733 | |||||||
| chr1:12491972 | G | A | 1 | a0001c0001t0001g0113 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.12663-5528G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12491972 | |||||||
| chr1:12492161 | G | T | 3 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 |
3 | HG02717.hp1 HG03195.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.12663-5339G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12492161 | |||||||
| chr1:12492450 | C | G | 1 | a0001c0003t0005g0049 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.12663-5050C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12492450 | |||||||
| chr1:12492499 | A | G | 1 | a0014c0020t0023g0077 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.12663-5001A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12492499 | |||||||
| chr1:12492533 | G | A | 2 | a0001c0001t0016g0032 a0018c0015t0024g0001 |
2 | HG02970.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.12663-4967G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12492533 | |||||||
| chr1:12492695 | A | G | 2 | a0002c0004t0001g0081 a0002c0004t0001g0096 |
2 | HG02056.hp2 NA18943.hp1 |
intron_variant | MODIFIER | c.12663-4805A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12492695 | |||||||
| chr1:12493071 | GT | G | 69 | a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0110 others(66): Show |
69 | HG00408.hp2 HG01099.hp2 HG01109.hp1 others(66): Show |
intron_variant | MODIFIER | c.12663-4416delT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | INFO_REALIGN_3_PRIME | chr1 | 12493071 | ||||||
| chr1:12493156 | A | G | 1 | a0001c0003t0016g0063 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.12663-4344A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12493156 | |||||||
| chr1:12493287 | C | A | 2 | a0001c0001t0016g0032 a0018c0015t0024g0001 |
2 | HG02970.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.12663-4213C>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12493287 | |||||||
| chr1:12493342 | G | A | 13 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.12663-4158G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12493342 | |||||||
| chr1:12493355 | C | T | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.12663-4145C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12493355 | |||||||
| chr1:12493482 | CA | C | 13 | a0001c0001t0001g0085 a0001c0001t0010g0120 a0001c0006t0003g0004 others(10): Show |
13 | HG01099.hp2 HG01106.hp2 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.12663-3999delA | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | INFO_REALIGN_3_PRIME | chr1 | 12493482 | ||||||
| chr1:12493562 | T | G | 2 | a0001c0001t0016g0032 a0018c0015t0024g0001 |
2 | HG02970.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.12663-3938T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12493562 | |||||||
| chr1:12493846 | A | G | 2 | a0001c0001t0004g0148 a0001c0012t0002g0074 |
2 | HG01243.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.12663-3654A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12493846 | |||||||
| chr1:12494553 | T | C | 17 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(14): Show |
17 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(14): Show |
intron_variant | MODIFIER | c.12663-2947T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12494553 | |||||||
| chr1:12494599 | A | G | 1 | a0001c0001t0001g0037 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.12663-2901A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12494599 | |||||||
| chr1:12494879 | G | A | 2 | a0001c0001t0016g0032 a0018c0015t0024g0001 |
2 | HG02970.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.12663-2621G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12494879 | |||||||
| chr1:12494956 | C | T | 1 | a0001c0002t0004g0047 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.12663-2544C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12494956 | |||||||
| chr1:12495339 | A | G | 1 | a0001c0008t0003g0002 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.12663-2161A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12495339 | |||||||
| chr1:12495454 | G | A | 1 | a0001c0009t0004g0018 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.12663-2046G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12495454 | |||||||
| chr1:12495485 | C | T | 2 | a0001c0001t0004g0148 a0001c0012t0002g0074 |
2 | HG01243.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.12663-2015C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12495485 | |||||||
| chr1:12495505 | G | A | 1 | a0001c0009t0004g0018 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.12663-1995G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12495505 | |||||||
| chr1:12495670 | T | A | 17 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(14): Show |
17 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(14): Show |
intron_variant | MODIFIER | c.12663-1830T>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12495670 | |||||||
| chr1:12496017 | T | C | 13 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.12663-1483T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12496017 | |||||||
| chr1:12496117 | G | A | 1 | a0001c0001t0001g0104 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.12663-1383G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12496117 | |||||||
| chr1:12496338 | T | C | 18 | a0001c0001t0010g0120 a0001c0001t0021g0122 a0001c0006t0003g0004 others(15): Show |
18 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(15): Show |
intron_variant | MODIFIER | c.12663-1162T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12496338 | |||||||
| chr1:12496632 | A | G | 22 | a0001c0001t0010g0120 a0001c0001t0016g0032 a0001c0001t0021g0122 others(19): Show |
22 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(19): Show |
intron_variant | MODIFIER | c.12663-868A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12496632 | |||||||
| chr1:12496801 | C | T | 2 | a0012c0028t0013g0141 a0017c0019t0001g0093 |
2 | HG03486.hp1 NA19066.hp2 |
intron_variant | MODIFIER | c.12663-699C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12496801 | |||||||
| chr1:12496824 | G | C | 2 | a0001c0009t0022g0076 a0014c0020t0023g0077 |
2 | HG01255.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.12663-676G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12496824 | |||||||
| chr1:12496856 | G | GCCAGGT | 2 | a0001c0001t0001g0098 a0001c0021t0013g0046 |
2 | HG03540.hp2 HG04204.hp1 |
intron_variant | MODIFIER | c.12663-602_12663-59 others(10): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | INFO_REALIGN_3_PRIME | chr1 | 12496856 | ||||||
| chr1:12496856 | G | GCCAGGTC others(11): Show |
1 | a0001c0009t0004g0018 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.12663-614_12663-59 others(22): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | INFO_REALIGN_3_PRIME | chr1 | 12496856 | ||||||
| chr1:12496856 | GCCAGGT | G | 2 | a0001c0001t0016g0032 a0018c0015t0024g0001 |
2 | HG02970.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.12663-602_12663-59 others(10): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | INFO_REALIGN_3_PRIME | chr1 | 12496856 | ||||||
| chr1:12496862 | T | G | 1 | a0001c0001t0012g0121 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.12663-638T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12496862 | |||||||
| chr1:12497016 | T | C | 3 | a0001c0001t0015g0069 a0001c0002t0004g0047 a0001c0002t0015g0057 |
3 | HG01106.hp1 HG03098.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.12663-484T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12497016 | |||||||
| chr1:12497101 | T | C | 1 | a0001c0001t0001g0019 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.12663-399T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12497101 | |||||||
| chr1:12497187 | G | A | 1 | a0001c0021t0013g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.12663-313G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12497187 | |||||||
| chr1:12497196 | G | A | 1 | a0001c0001t0001g0116 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.12663-304G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12497196 | |||||||
| chr1:12497270 | A | G | 3 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 |
3 | HG02717.hp1 HG03195.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.12663-230A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12497270 | |||||||
| chr1:12497347 | A | C | 13 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.12663-153A>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12497347 | |||||||
| chr1:12497476 | C | T | 3 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 |
3 | HG02717.hp1 HG03195.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.12663-24C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12497476 | |||||||
| chr1:12497494 | A | G | 1 | a0001c0003t0002g0056 | 1 | NA18951.hp1 | splice_region_variant&intron_variant | LOW | c.12663-6A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | chr1 | 12497494 | |||||||
| chr1:12497878 | A | G | 17 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(14): Show |
17 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(14): Show |
intron_variant | MODIFIER | c.12794+247A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | chr1 | 12497878 | |||||||
| chr1:12498064 | C | T | 1 | a0001c0001t0001g0022 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.12794+433C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | chr1 | 12498064 | |||||||
| chr1:12498508 | A | G | 2 | a0001c0003t0002g0055 a0001c0003t0002g0056 |
2 | NA18951.hp1 NA19070.hp2 |
intron_variant | MODIFIER | c.12794+877A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | chr1 | 12498508 | |||||||
| chr1:12498523 | C | T | 1 | a0001c0009t0004g0018 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.12794+892C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | chr1 | 12498523 | |||||||
| chr1:12499398 | A | G | 1 | a0001c0003t0001g0058 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.12794+1767A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | chr1 | 12499398 | |||||||
| chr1:12499490 | C | T | 2 | a0001c0001t0016g0032 a0018c0015t0024g0001 |
2 | HG02970.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.12794+1859C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | chr1 | 12499490 | |||||||
| chr1:12499491 | G | A | 1 | a0001c0001t0001g0023 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.12794+1860G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | chr1 | 12499491 | |||||||
| chr1:12499528 | C | G | 2 | a0001c0001t0002g0140 a0001c0001t0004g0082 |
2 | HG02895.hp2 HG02970.hp2 |
intron_variant | MODIFIER | c.12794+1897C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | chr1 | 12499528 | |||||||
| chr1:12499669 | A | G | 1 | a0001c0006t0003g0013 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.12794+2038A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | chr1 | 12499669 | |||||||
| chr1:12499712 | G | A | 3 | a0001c0005t0002g0059 a0001c0005t0002g0062 a0001c0005t0004g0060 |
3 | HG01884.hp2 HG02486.hp2 HG02572.hp2 |
intron_variant | MODIFIER | c.12794+2081G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | chr1 | 12499712 | |||||||
| chr1:12500129 | T | G | 1 | a0001c0002t0008g0044 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.12794+2498T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | chr1 | 12500129 | |||||||
| chr1:12500192 | A | G | 13 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.12794+2561A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | chr1 | 12500192 | |||||||
| chr1:12500836 | G | C | 13 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.12794+3205G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | chr1 | 12500836 | |||||||
| chr1:12501000 | G | A | 2 | a0001c0001t0001g0146 a0001c0001t0001g0147 |
2 | HG03017.hp2 HG03491.hp1 |
intron_variant | MODIFIER | c.12794+3369G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | chr1 | 12501000 | |||||||
| chr1:12501391 | C | T | 1 | a0001c0003t0002g0061 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.12794+3760C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | chr1 | 12501391 | |||||||
| chr1:12501418 | A | G | 19 | a0001c0001t0010g0120 a0001c0001t0021g0122 a0001c0006t0003g0004 others(16): Show |
19 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(16): Show |
intron_variant | MODIFIER | c.12794+3787A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | chr1 | 12501418 | |||||||
| chr1:12501515 | A | C | 1 | a0014c0020t0023g0077 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.12794+3884A>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | chr1 | 12501515 | |||||||
| chr1:12501985 | T | G | 3 | a0001c0001t0015g0069 a0001c0002t0004g0047 a0001c0002t0015g0057 |
3 | HG01106.hp1 HG03098.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.12794+4354T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | chr1 | 12501985 | |||||||
| chr1:12502181 | C | A | 1 | a0001c0009t0004g0018 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.12794+4550C>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | chr1 | 12502181 | |||||||
| chr1:12502641 | G | GA | 55 | a0001c0001t0001g0086 a0001c0001t0002g0038 a0001c0001t0002g0042 others(52): Show |
55 | HG00408.hp2 HG00438.hp2 HG01109.hp1 others(52): Show |
intron_variant | MODIFIER | c.12795-4198dupA | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | INFO_REALIGN_3_PRIME | chr1 | 12502641 | ||||||
| chr1:12502641 | GA | G | 15 | a0001c0001t0010g0120 a0001c0002t0001g0006 a0001c0006t0003g0004 others(12): Show |
15 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(12): Show |
intron_variant | MODIFIER | c.12795-4198delA | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | INFO_REALIGN_3_PRIME | chr1 | 12502641 | ||||||
| chr1:12503051 | G | A | 11 | a0001c0001t0011g0107 a0001c0002t0007g0066 a0001c0011t0011g0016 others(8): Show |
11 | HG01109.hp1 HG01884.hp1 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.12795-3802G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | chr1 | 12503051 | |||||||
| chr1:12503121 | C | T | 1 | a0003c0007t0007g0154 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.12795-3732C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | chr1 | 12503121 | |||||||
| chr1:12503316 | T | G | 4 | a0001c0021t0013g0046 a0004c0030t0014g0143 a0004c0031t0014g0142 others(1): Show |
4 | HG02717.hp1 HG03195.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.12795-3537T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | chr1 | 12503316 | |||||||
| chr1:12503325 | G | A | 3 | a0001c0001t0016g0032 a0001c0003t0016g0063 a0018c0015t0024g0001 |
3 | HG02970.hp1 NA18906.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.12795-3528G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | chr1 | 12503325 | |||||||
| chr1:12503325 | G | T | 1 | a0001c0012t0008g0067 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.12795-3528G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | chr1 | 12503325 | |||||||
| chr1:12503390 | C | T | 1 | a0001c0001t0001g0116 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.12795-3463C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | chr1 | 12503390 | |||||||
| chr1:12503436 | A | C | 2 | a0001c0009t0004g0018 a0014c0020t0023g0077 |
2 | HG03579.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.12795-3417A>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | chr1 | 12503436 | |||||||
| chr1:12503643 | C | T | 21 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(18): Show |
21 | HG00408.hp2 HG00438.hp2 HG02056.hp1 others(18): Show |
intron_variant | MODIFIER | c.12795-3210C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | chr1 | 12503643 | |||||||
| chr1:12503760 | G | A | 1 | a0001c0009t0004g0018 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.12795-3093G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | chr1 | 12503760 | |||||||
| chr1:12503927 | A | G | 20 | a0001c0001t0010g0120 a0001c0001t0021g0122 a0001c0006t0003g0004 others(17): Show |
20 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(17): Show |
intron_variant | MODIFIER | c.12795-2926A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | chr1 | 12503927 | |||||||
| chr1:12504005 | G | A | 2 | a0001c0011t0011g0016 a0003c0007t0007g0154 |
2 | HG02895.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.12795-2848G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | chr1 | 12504005 | |||||||
| chr1:12504007 | G | A | 3 | a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0101 |
3 | NA18959.hp1 NA19068.hp2 NA19070.hp1 |
intron_variant | MODIFIER | c.12795-2846G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | chr1 | 12504007 | |||||||
| chr1:12504073 | G | T | 11 | a0001c0001t0011g0107 a0001c0002t0007g0066 a0001c0011t0011g0016 others(8): Show |
11 | HG01109.hp1 HG01884.hp1 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.12795-2780G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | chr1 | 12504073 | |||||||
| chr1:12504149 | A | G | 1 | a0001c0001t0001g0084 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.12795-2704A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | chr1 | 12504149 | |||||||
| chr1:12504465 | C | T | 13 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.12795-2388C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | chr1 | 12504465 | |||||||
| chr1:12504511 | G | A | 4 | a0001c0002t0001g0006 a0001c0002t0001g0099 a0001c0002t0001g0100 others(1): Show |
4 | HG01255.hp1 HG01943.hp1 HG02300.hp1 others(1): Show |
intron_variant | MODIFIER | c.12795-2342G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | chr1 | 12504511 | |||||||
| chr1:12504901 | A | C | 1 | a0001c0001t0001g0023 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.12795-1952A>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | chr1 | 12504901 | |||||||
| chr1:12505093 | C | T | 4 | a0001c0002t0001g0006 a0001c0002t0001g0099 a0001c0002t0001g0100 others(1): Show |
4 | HG01255.hp1 HG01943.hp1 HG02300.hp1 others(1): Show |
intron_variant | MODIFIER | c.12795-1760C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | chr1 | 12505093 | |||||||
| chr1:12505151 | T | C | 17 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(14): Show |
17 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(14): Show |
intron_variant | MODIFIER | c.12795-1702T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | chr1 | 12505151 | |||||||
| chr1:12505318 | G | A | 3 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 |
3 | HG02717.hp1 HG03195.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.12795-1535G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | chr1 | 12505318 | |||||||
| chr1:12505422 | T | C | 4 | a0001c0021t0013g0046 a0004c0030t0014g0143 a0004c0031t0014g0142 others(1): Show |
4 | HG02717.hp1 HG03195.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.12795-1431T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | chr1 | 12505422 | |||||||
| chr1:12505491 | C | T | 1 | a0001c0001t0020g0078 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.12795-1362C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | chr1 | 12505491 | |||||||
| chr1:12505687 | G | C | 1 | a0001c0001t0001g0108 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.12795-1166G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | chr1 | 12505687 | |||||||
| chr1:12505821 | G | A | 13 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.12795-1032G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | chr1 | 12505821 | |||||||
| chr1:12506082 | C | T | 1 | a0015c0016t0026g0149 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.12795-771C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | chr1 | 12506082 | |||||||
| chr1:12506218 | G | C | 17 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(14): Show |
17 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(14): Show |
intron_variant | MODIFIER | c.12795-635G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | chr1 | 12506218 | |||||||
| chr1:12506372 | G | A | 1 | a0002c0004t0001g0133 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.12795-481G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | chr1 | 12506372 | |||||||
| chr1:12506427 | A | G | 13 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.12795-426A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | chr1 | 12506427 | |||||||
| chr1:12506430 | T | A | 1 | a0001c0001t0004g0082 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.12795-423T>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | chr1 | 12506430 | |||||||
| chr1:12506609 | C | T | 13 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.12795-244C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | chr1 | 12506609 | |||||||
| chr1:12506650 | C | T | 3 | a0001c0001t0015g0069 a0001c0002t0004g0047 a0001c0002t0015g0057 |
3 | HG01106.hp1 HG03098.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.12795-203C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | chr1 | 12506650 | |||||||
| chr1:12506754 | C | T | 3 | a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0101 |
3 | NA18959.hp1 NA19068.hp2 NA19070.hp1 |
intron_variant | MODIFIER | c.12795-99C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 68/69 | chr1 | 12506754 | |||||||
| chr1:12507106 | C | T | 40 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(37): Show |
40 | HG00408.hp2 HG00438.hp2 HG01256.hp1 others(37): Show |
intron_variant | MODIFIER | c.13035+13C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 69/69 | chr1 | 12507106 | |||||||
| chr1:12507178 | G | A | 2 | a0001c0002t0001g0099 a0001c0002t0001g0100 |
2 | HG01255.hp1 NA20905.hp2 |
intron_variant | MODIFIER | c.13035+85G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 69/69 | chr1 | 12507178 | |||||||
| chr1:12507578 | C | T | 2 | a0001c0001t0016g0032 a0018c0015t0024g0001 |
2 | HG02970.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.13035+485C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 69/69 | chr1 | 12507578 | |||||||
| chr1:12507846 | A | T | 78 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(75): Show |
78 | HG00408.hp2 HG00438.hp2 HG01099.hp2 others(75): Show |
intron_variant | MODIFIER | c.13035+753A>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 69/69 | chr1 | 12507846 | |||||||
| chr1:12507875 | C | G | 1 | a0001c0001t0001g0022 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.13035+782C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 69/69 | chr1 | 12507875 | |||||||
| chr1:12507958 | G | C | 13 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.13035+865G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 69/69 | chr1 | 12507958 | |||||||
| chr1:12508309 | C | G | 1 | a0001c0003t0016g0063 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.13036-584C>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 69/69 | chr1 | 12508309 | |||||||
| chr1:12508354 | G | T | 18 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(15): Show |
18 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(15): Show |
intron_variant | MODIFIER | c.13036-539G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 69/69 | chr1 | 12508354 | |||||||
| chr1:12508471 | C | T | 1 | a0016c0018t0001g0080 | 1 | NA18968.hp1 | intron_variant | MODIFIER | c.13036-422C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 69/69 | chr1 | 12508471 | |||||||
| chr1:12508472 | G | A | 13 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.13036-421G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 69/69 | chr1 | 12508472 | |||||||
| chr1:12508542 | T | TA | 13 | a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0091 others(10): Show |
13 | HG01071.hp1 HG01099.hp1 HG01109.hp2 others(10): Show |
intron_variant | MODIFIER | c.13036-328dupA | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 69/69 | INFO_REALIGN_3_PRIME | chr1 | 12508542 | ||||||
| chr1:12508542 | TA | T | 25 | a0001c0001t0001g0086 a0001c0001t0001g0101 a0001c0001t0004g0148 others(22): Show |
25 | HG00408.hp1 HG01106.hp1 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.13036-328delA | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 69/69 | INFO_REALIGN_3_PRIME | chr1 | 12508542 | ||||||
| chr1:12508542 | TAA | T | 21 | a0001c0001t0002g0140 a0001c0001t0004g0082 a0001c0001t0004g0136 others(18): Show |
21 | HG01099.hp2 HG01256.hp1 HG01346.hp1 others(18): Show |
intron_variant | MODIFIER | c.13036-329_13036-32 others(6): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 69/69 | INFO_REALIGN_3_PRIME | chr1 | 12508542 | ||||||
| chr1:12508542 | TAAA | T | 37 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0042 others(34): Show |
37 | HG00408.hp2 HG00438.hp2 HG01243.hp1 others(34): Show |
intron_variant | MODIFIER | c.13036-330_13036-32 others(7): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 69/69 | INFO_REALIGN_3_PRIME | chr1 | 12508542 | ||||||
| chr1:12508634 | C | T | 3 | a0001c0001t0015g0069 a0001c0002t0004g0047 a0001c0002t0015g0057 |
3 | HG01106.hp1 HG03098.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.13036-259C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 69/69 | chr1 | 12508634 | |||||||
| chr1:12508675 | G | C | 18 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(15): Show |
18 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(15): Show |
intron_variant | MODIFIER | c.13036-218G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 69/69 | chr1 | 12508675 | |||||||
| chr1:12508687 | G | A | 3 | a0001c0001t0015g0069 a0001c0002t0004g0047 a0001c0002t0015g0057 |
3 | HG01106.hp1 HG03098.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.13036-206G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 69/69 | chr1 | 12508687 | |||||||
| chr1:12508691 | C | CA | 5 | a0001c0001t0004g0148 a0001c0001t0006g0129 a0001c0009t0004g0018 others(2): Show |
5 | HG00438.hp1 HG01243.hp2 HG03579.hp1 others(2): Show |
intron_variant | MODIFIER | c.13036-186dupA | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 69/69 | INFO_REALIGN_3_PRIME | chr1 | 12508691 | ||||||
| chr1:12508691 | C | CAA | 16 | a0001c0001t0010g0120 a0001c0006t0003g0004 a0001c0006t0003g0007 others(13): Show |
16 | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(13): Show |
intron_variant | MODIFIER | c.13036-187_13036-18 others(6): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 69/69 | INFO_REALIGN_3_PRIME | chr1 | 12508691 |