Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| 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 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 4388 | 122 | 32 | 27 | 43 | 0 | 18 | 30 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0002 | 0/0 | 4388 | 10 | 1 | 2 | 5 | 0 | 2 | 4 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0003 | 0/0 | 4388 | 5 | 4 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0004 | 0/0 | 4388 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0005 | 0/0 | 4388 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0006 | 0/0 | 4388 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0007 | 0/0 | 4388 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0008 | 0/0 | 4388 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0009 | 0/0 | 4388 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0010 | 0/0 | 4388 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0011 | 0/0 | 4388 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0012 | 0/0 | 4388 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0013 | 0/0 | 4388 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0014 | 0/0 | 4388 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0015 | 0/0 | 4388 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0016 | 0/0 | 4388 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0017 | 0/0 | 4388 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0018 | 0/0 | 4388 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| chapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 0/1 | 13167 | 59 | 14 | 13 | 22 | 0 | 9 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| c0002 | 1/0 | 13167 | 22 | 3 | 2 | 12 | 0 | 4 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| c0003 | 0/0 | 13167 | 12 | 3 | 3 | 6 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| c0004 | 0/0 | 13167 | 9 | 1 | 2 | 5 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| c0005 | 0/0 | 13167 | 6 | 4 | 0 | 0 | 0 | 2 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| c0006 | 0/0 | 13167 | 6 | 0 | 3 | 1 | 0 | 2 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| c0007 | 0/0 | 13167 | 5 | 4 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| c0008 | 0/0 | 13167 | 5 | 0 | 3 | 1 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| c0009 | 0/0 | 13167 | 3 | 2 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| c0010 | 0/0 | 13167 | 2 | 2 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| c0011 | 0/0 | 13167 | 2 | 2 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| c0012 | 0/0 | 13167 | 2 | 1 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| c0013 | 0/0 | 13167 | 2 | 2 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| c0014 | 0/0 | 13167 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| c0015 | 0/0 | 13167 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| c0016 | 0/0 | 13167 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| c0017 | 0/0 | 13167 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| c0018 | 0/0 | 13167 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| c0019 | 0/0 | 13167 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| c0020 | 0/0 | 13167 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| c0021 | 0/0 | 13167 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| c0022 | 0/0 | 13167 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| c0023 | 0/0 | 13167 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| c0024 | 0/0 | 13167 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| c0025 | 0/0 | 13167 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| c0026 | 0/0 | 13167 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| c0027 | 0/0 | 13167 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| c0028 | 0/0 | 13167 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| c0029 | 0/0 | 13167 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| c0030 | 0/0 | 13167 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| c0031 | 0/0 | 13167 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| c0032 | 0/0 | 13167 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| thapid | grch38chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 1/1 | 3191 | 43 | 9 | 8 | 17 | 0 | 7 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| t0002 | 0/0 | 3187 | 15 | 0 | 0 | 11 | 0 | 4 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| t0003 | 0/0 | 3189 | 7 | 0 | 3 | 3 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| t0004 | 0/0 | 3191 | 6 | 0 | 3 | 3 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| t0005 | 0/0 | 3191 | 6 | 6 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| t0006 | 0/0 | 3193 | 6 | 5 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| t0007 | 0/0 | 3191 | 5 | 0 | 3 | 2 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| t0008 | 0/0 | 3187 | 5 | 0 | 0 | 5 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| t0009 | 0/0 | 3199 | 4 | 0 | 4 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| t0010 | 0/0 | 3197 | 3 | 0 | 2 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| t0011 | 0/0 | 3191 | 3 | 2 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| t0012 | 0/0 | 3193 | 3 | 0 | 2 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| t0013 | 0/0 | 3195 | 2 | 0 | 0 | 2 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| t0014 | 0/0 | 3189 | 2 | 2 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| t0015 | 0/0 | 3193 | 2 | 2 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| t0016 | 0/0 | 3193 | 2 | 0 | 0 | 0 | 0 | 2 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| t0017 | 0/0 | 3193 | 2 | 2 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| t0018 | 0/0 | 3191 | 2 | 0 | 0 | 0 | 0 | 2 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| t0019 | 0/0 | 3193 | 2 | 2 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| t0020 | 0/0 | 3191 | 2 | 2 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| t0021 | 0/0 | 3191 | 2 | 0 | 0 | 2 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| t0022 | 0/0 | 3189 | 2 | 1 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| t0023 | 0/0 | 3189 | 2 | 2 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| t0024 | 0/0 | 3191 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| t0025 | 0/0 | 3193 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| t0026 | 0/0 | 3195 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| t0027 | 0/0 | 3197 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| t0028 | 0/0 | 3197 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| t0029 | 0/0 | 3189 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| t0030 | 0/0 | 3191 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| t0031 | 0/0 | 3195 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| t0032 | 0/0 | 3191 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| t0033 | 0/0 | 3191 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| t0034 | 0/0 | 3187 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| t0035 | 0/0 | 3189 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| t0036 | 0/0 | 3191 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| t0037 | 0/0 | 3191 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| t0038 | 0/0 | 3187 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| t0039 | 0/0 | 3191 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| t0040 | 0/0 | 3189 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| t0041 | 0/0 | 3191 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| t0042 | 0/0 | 3195 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| t0043 | 0/0 | 3197 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| t0044 | 0/0 | 3189 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| t0045 | 0/0 | 3191 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| t0046 | 0/0 | 3189 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| t0047 | 0/0 | 3193 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| t0048 | 0/0 | 3191 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| t0049 | 0/0 | 3197 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| ghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0003 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0004 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0005 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0006 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0007 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0008 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0010 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0011 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0012 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0013 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0020 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0021 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0022 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0038 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0040 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0041 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0042 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0048 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0049 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0053 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0069 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0074 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0076 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0079 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0085 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0089 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0090 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0091 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0098 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0099 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0100 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0102 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0104 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0106 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0111 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0112 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0113 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0115 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0119 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0120 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0121 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0127 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0128 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0130 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0131 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0132 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0136 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0138 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0142 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0144 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0145 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0146 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0147 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0148 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0150 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0151 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| g0154 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| achapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/1 | 13167 | 59 | 14 | 13 | 22 | 0 | 9 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0002 | 1/0 | 13167 | 22 | 3 | 2 | 12 | 0 | 4 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0003 | 0/0 | 13167 | 12 | 3 | 3 | 6 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0005 | 0/0 | 13167 | 6 | 4 | 0 | 0 | 0 | 2 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0006 | 0/0 | 13167 | 6 | 0 | 3 | 1 | 0 | 2 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0008 | 0/0 | 13167 | 5 | 0 | 3 | 1 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0009 | 0/0 | 13167 | 3 | 2 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0011 | 0/0 | 13167 | 2 | 2 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0012 | 0/0 | 13167 | 2 | 1 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0013 | 0/0 | 13167 | 2 | 2 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0014 | 0/0 | 13167 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0021 | 0/0 | 13167 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0024 | 0/0 | 13167 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0002c0004 | 0/0 | 13167 | 9 | 1 | 2 | 5 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0002c0032 | 0/0 | 13167 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0003c0007 | 0/0 | 13167 | 5 | 4 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0004c0030 | 0/0 | 13167 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0004c0031 | 0/0 | 13167 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0005c0010 | 0/0 | 13167 | 2 | 2 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0006c0017 | 0/0 | 13167 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0007c0019 | 0/0 | 13167 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0008c0027 | 0/0 | 13167 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0009c0022 | 0/0 | 13167 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0010c0025 | 0/0 | 13167 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0011c0023 | 0/0 | 13167 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0012c0026 | 0/0 | 13167 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0013c0020 | 0/0 | 13167 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0014c0028 | 0/0 | 13167 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0015c0029 | 0/0 | 13167 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0016c0018 | 0/0 | 13167 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0017c0016 | 0/0 | 13167 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0018c0015 | 0/0 | 13167 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/1 | 16357 | 26 | 7 | 5 | 10 | 0 | 3 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0001t0002 | 0/0 | 16353 | 6 | 0 | 0 | 4 | 0 | 2 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0001t0003 | 0/0 | 16355 | 4 | 0 | 1 | 3 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0001t0005 | 0/0 | 16357 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0001t0007 | 0/0 | 16357 | 5 | 0 | 3 | 2 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0001t0008 | 0/0 | 16353 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0001t0011 | 0/0 | 16357 | 2 | 1 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0001t0012 | 0/0 | 16359 | 2 | 0 | 2 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0001t0016 | 0/0 | 16359 | 2 | 0 | 0 | 0 | 0 | 2 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0001t0018 | 0/0 | 16357 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0001t0022 | 0/0 | 16355 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0001t0023 | 0/0 | 16355 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0001t0027 | 0/0 | 16363 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0001t0032 | 0/0 | 16357 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0001t0033 | 0/0 | 16357 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0001t0036 | 0/0 | 16357 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0001t0038 | 0/0 | 16353 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0001t0042 | 0/0 | 16361 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0001t0043 | 0/0 | 16363 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0002t0001 | 1/0 | 16357 | 3 | 0 | 1 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0002t0002 | 0/0 | 16353 | 8 | 0 | 0 | 6 | 0 | 2 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0002t0003 | 0/0 | 16355 | 2 | 0 | 1 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0002t0006 | 0/0 | 16359 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0002t0008 | 0/0 | 16353 | 4 | 0 | 0 | 4 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0002t0022 | 0/0 | 16355 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0002t0040 | 0/0 | 16355 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0002t0047 | 0/0 | 16359 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0002t0048 | 0/0 | 16357 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0003t0001 | 0/0 | 16357 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0003t0004 | 0/0 | 16357 | 6 | 0 | 3 | 3 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0003t0005 | 0/0 | 16357 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0003t0021 | 0/0 | 16357 | 2 | 0 | 0 | 2 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0003t0023 | 0/0 | 16355 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0003t0024 | 0/0 | 16357 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0005t0001 | 0/0 | 16357 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0005t0005 | 0/0 | 16357 | 3 | 3 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0005t0011 | 0/0 | 16357 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0005t0018 | 0/0 | 16357 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0006t0009 | 0/0 | 16365 | 3 | 0 | 3 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0006t0013 | 0/0 | 16361 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0006t0025 | 0/0 | 16359 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0006t0026 | 0/0 | 16361 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0008t0010 | 0/0 | 16363 | 3 | 0 | 2 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0008t0013 | 0/0 | 16361 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0008t0028 | 0/0 | 16363 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0009t0020 | 0/0 | 16357 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0009t0037 | 0/0 | 16357 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0009t0039 | 0/0 | 16357 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0011t0017 | 0/0 | 16359 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0011t0031 | 0/0 | 16361 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0012t0020 | 0/0 | 16357 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0012t0049 | 0/0 | 16363 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0013t0015 | 0/0 | 16359 | 2 | 2 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0014t0012 | 0/0 | 16359 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0021t0014 | 0/0 | 16355 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0001c0024t0003 | 0/0 | 16355 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0002c0004t0001 | 0/0 | 16357 | 7 | 0 | 2 | 4 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0002c0004t0034 | 0/0 | 16353 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0002c0004t0045 | 0/0 | 16357 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0002c0032t0001 | 0/0 | 16357 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0003c0007t0006 | 0/0 | 16359 | 5 | 4 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0004c0030t0030 | 0/0 | 16357 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0004c0031t0029 | 0/0 | 16355 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0005c0010t0019 | 0/0 | 16359 | 2 | 2 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0006c0017t0001 | 0/0 | 16357 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0007c0019t0001 | 0/0 | 16357 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0008c0027t0001 | 0/0 | 16357 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0009c0022t0002 | 0/0 | 16353 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0010c0025t0009 | 0/0 | 16365 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0011c0023t0005 | 0/0 | 16357 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0012c0026t0035 | 0/0 | 16355 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0013c0020t0041 | 0/0 | 16357 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0014c0028t0014 | 0/0 | 16355 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0015c0029t0017 | 0/0 | 16359 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0016c0018t0001 | 0/0 | 16357 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0017c0016t0046 | 0/0 | 16355 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| a0018c0015t0044 | 0/0 | 16355 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | copy fasta | chr1 | 12225030 | 12517047 |
| actghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 |
| a0001c0001t0001g0098 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | 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 |
| 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 |
| a0001c0001t0003g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0003g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0003g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0003g0104 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0005g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0007g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0007g0130 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0007g0131 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0007g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0007g0138 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0008g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0011g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0011g0139 | 0/0 | 1 | 0 | 0 | 1 | 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 |
| a0001c0001t0016g0091 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0016g0145 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0018g0136 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0022g0069 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0023g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0027g0120 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0032g0102 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0033g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0036g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0038g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0042g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0001t0043g0148 | 0/0 | 1 | 1 | 0 | 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 |
| 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 |
| a0001c0002t0003g0006 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0002t0003g0099 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0002t0006g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0002t0008g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0002t0008g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0002t0008g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0002t0008g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0002t0022g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0002t0040g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0002t0047g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0002t0048g0031 | 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 |
| a0001c0003t0004g0048 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0003t0004g0049 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0003t0004g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0003t0004g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0003t0004g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0003t0004g0053 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0003t0005g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0003t0021g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0003t0021g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0003t0023g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0003t0024g0054 | 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 |
| a0001c0005t0005g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0005t0005g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0005t0005g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0005t0011g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0005t0018g0111 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0006t0009g0004 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0006t0009g0007 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0006t0009g0013 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0006t0013g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0006t0025g0003 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0006t0026g0010 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0008t0010g0011 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0008t0010g0012 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0008t0010g0079 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0008t0013g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0008t0028g0008 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0009t0020g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0009t0037g0076 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0009t0039g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0011t0017g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0011t0031g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0012t0020g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0012t0049g0074 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0013t0015g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0013t0015g0073 | 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 |
| a0001c0021t0014g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0001c0024t0003g0127 | 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 |
| 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 |
| a0002c0004t0034g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0002c0004t0045g0118 | 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 |
| a0003c0007t0006g0150 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0003c0007t0006g0151 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0003c0007t0006g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0003c0007t0006g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0003c0007t0006g0154 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0004c0030t0030g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0004c0031t0029g0142 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0005c0010t0019g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0005c0010t0019g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0006c0017t0001g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0007c0019t0001g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0008c0027t0001g0105 | 0/0 | 1 | 1 | 0 | 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 |
| a0010c0025t0009g0005 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0011c0023t0005g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0012c0026t0035g0128 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0013c0020t0041g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0014c0028t0014g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0015c0029t0017g0144 | 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 |
| a0017c0016t0046g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| a0018c0015t0044g0001 | 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 | t0008 | g0027 | EAS | CHS | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG00438 | hp1 | a0001 | c0001 | t0007 | g0129 | EAS | CHS | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG00438 | hp2 | a0001 | c0002 | t0008 | 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 | t0032 | 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 | t0009 | g0004 | AMR | PUR | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG01106 | hp1 | a0001 | c0001 | t0022 | 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 | t0006 | g0150 | AMR | PUR | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG01109 | hp2 | a0001 | c0001 | t0003 | g0104 | AMR | PUR | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG01243 | hp1 | a0001 | c0008 | t0010 | g0011 | AMR | PUR | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG01243 | hp2 | a0001 | c0012 | t0049 | 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 | t0037 | g0076 | AMR | CLM | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG01256 | hp1 | a0001 | c0003 | t0004 | 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 | t0004 | g0048 | AMR | CLM | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG01346 | hp2 | a0001 | c0006 | t0009 | g0007 | AMR | CLM | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG01361 | hp1 | a0001 | c0008 | t0010 | g0012 | AMR | CLM | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG01361 | hp2 | a0001 | c0001 | t0007 | 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 | a0010 | c0025 | t0009 | g0005 | AMR | CLM | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG01884 | hp1 | a0003 | c0007 | t0006 | g0153 | AFR | ACB | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG01884 | hp2 | a0001 | c0005 | t0011 | 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 | a0015 | c0029 | t0017 | g0144 | AFR | ACB | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG01928 | hp1 | a0001 | c0008 | t0028 | g0008 | AMR | PEL | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG01928 | hp2 | a0012 | c0026 | t0035 | g0128 | AMR | PEL | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG01943 | hp1 | a0001 | c0002 | t0003 | g0006 | AMR | PEL | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG01943 | hp2 | a0001 | c0001 | t0001 | g0112 | AMR | PEL | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG01993 | hp1 | a0001 | c0006 | t0009 | g0013 | AMR | PEL | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG01993 | hp2 | a0001 | c0001 | t0007 | 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 | t0007 | 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 | a0006 | c0017 | t0001 | g0083 | EAS | KHV | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02071 | hp2 | a0001 | c0002 | t0047 | 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 | t0013 | 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 | t0004 | g0049 | AMR | PEL | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02273 | hp2 | a0001 | c0001 | t0001 | g0113 | AMR | PEL | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02300 | hp1 | a0001 | c0024 | t0003 | 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 | t0036 | g0122 | AFR | GWD | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02572 | hp2 | a0001 | c0005 | t0005 | g0059 | AFR | GWD | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02622 | hp1 | a0003 | c0007 | t0006 | g0151 | AFR | GWD | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02622 | hp2 | a0001 | c0002 | t0006 | 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 | t0018 | g0111 | SAS | PJL | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02698 | hp1 | a0001 | c0006 | t0025 | g0003 | SAS | PJL | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02698 | hp2 | a0001 | c0001 | t0016 | g0091 | SAS | PJL | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02717 | hp1 | a0004 | c0030 | t0030 | g0143 | AFR | GWD | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02717 | hp2 | a0001 | c0001 | t0033 | 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 | t0018 | g0136 | SAS | PJL | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02809 | hp1 | a0001 | c0005 | t0005 | g0068 | AFR | GWD | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02809 | hp2 | a0005 | c0010 | t0019 | g0070 | AFR | GWD | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02895 | hp1 | a0001 | c0011 | t0017 | g0016 | AFR | GWD | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02895 | hp2 | a0001 | c0001 | t0005 | 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 | t0023 | g0032 | AFR | ESN | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02970 | hp2 | a0001 | c0001 | t0011 | g0082 | AFR | ESN | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG02976 | hp1 | a0003 | c0007 | t0006 | 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 | t0034 | g0103 | AFR | MSL | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG03098 | hp2 | a0001 | c0002 | t0040 | g0047 | AFR | MSL | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG03130 | hp1 | a0003 | c0007 | t0006 | 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 | t0015 | g0065 | AFR | ESN | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG03195 | hp2 | a0004 | c0031 | t0029 | g0142 | AFR | ESN | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG03225 | hp1 | a0001 | c0011 | t0031 | g0015 | AFR | MSL | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG03225 | hp2 | a0011 | c0023 | t0005 | g0036 | AFR | MSL | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG03486 | hp1 | a0014 | c0028 | t0014 | 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 | t0027 | g0120 | SAS | PJL | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG03516 | hp1 | a0001 | c0013 | t0015 | g0073 | AFR | ESN | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG03516 | hp2 | a0001 | c0002 | t0022 | g0057 | AFR | ESN | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG03540 | hp1 | a0008 | c0027 | t0001 | g0105 | AFR | GWD | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG03540 | hp2 | a0001 | c0021 | t0014 | g0046 | AFR | GWD | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG03579 | hp1 | a0001 | c0009 | t0039 | g0018 | AFR | MSL | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG03579 | hp2 | a0001 | c0003 | t0005 | g0061 | AFR | MSL | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG04115 | hp1 | a0001 | c0008 | t0010 | 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 | t0026 | g0010 | SAS | STU | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA18522 | hp1 | a0001 | c0012 | t0020 | g0067 | AFR | YRI | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA18522 | hp2 | a0001 | c0001 | t0043 | g0148 | AFR | YRI | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA18906 | hp1 | a0001 | c0003 | t0023 | g0063 | AFR | YRI | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA18906 | hp2 | a0017 | c0016 | t0046 | 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 | t0008 | g0030 | EAS | JPT | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA18947 | hp1 | a0001 | c0006 | t0013 | g0009 | EAS | JPT | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA18947 | hp2 | a0002 | c0004 | t0045 | g0118 | EAS | JPT | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA18951 | hp1 | a0001 | c0003 | t0021 | 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 | t0003 | 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 | t0004 | 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 | t0007 | g0137 | EAS | JPT | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA18977 | hp1 | a0001 | c0003 | t0024 | g0054 | EAS | JPT | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA18977 | hp2 | a0001 | c0001 | t0011 | 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 | t0008 | 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 | t0004 | 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 | t0019 | g0071 | AFR | LWK | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA19043 | hp2 | a0001 | c0001 | t0042 | g0107 | AFR | LWK | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA19057 | hp1 | a0001 | c0002 | t0048 | g0031 | EAS | JPT | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA19057 | hp2 | a0001 | c0001 | t0038 | g0126 | EAS | JPT | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA19063 | hp1 | a0001 | c0002 | t0008 | 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 | t0004 | g0052 | EAS | JPT | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA19066 | hp2 | a0007 | 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 | t0003 | g0097 | EAS | JPT | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA19070 | hp1 | a0001 | c0001 | t0003 | g0092 | EAS | JPT | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA19070 | hp2 | a0001 | c0003 | t0021 | 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 | t0044 | g0001 | AFR | YRI | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA20905 | hp1 | a0001 | c0001 | t0016 | g0145 | SAS | GIH | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| NA20905 | hp2 | a0001 | c0002 | t0003 | 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 | t0005 | g0062 | AFR | ACB | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG06807 | hp1 | a0001 | c0009 | t0020 | g0017 | AFR | USA | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| HG06807 | hp2 | a0013 | c0020 | t0041 | g0077 | AFR | USA | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| homoSapiens_chm13v2 | hp1 | a0001 | c0001 | t0001 | g0020 | REF | REF | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| homoSapiens_grch38 | hp1 | a0001 | c0002 | t0001 | g0115 | REF | REF | VPS13D_chr1_12225030_12517047 | VPS13D | chr1 | 12225030 | 12517047 |
| 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 | a0003a0017 | 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 | a0006 | 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 | a0017 | 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 | a0007 | 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 | a0004a0014a0015 | 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 | a0014 | 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 | a0002a0007 | 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 | a0008 | 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 | a0013 | 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 | a0012 | 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 | a0010 | 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 | a0004a0014 | 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 |
| 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 | a0004c0030a0004c0031a0014c0028others(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 | a0001c0009a0004c0030a0004c0031others(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 | a0004c0030a0004c0031a0014c0028others(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 | a0004c0030a0004c0031a0014c0028others(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 | a0001c0006a0001c0008a0010c0025 | 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 | a0001c0009a0013c0020 | 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 | a0001c0011a0003c0007a0015c0029others(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 | a0001c0001a0001c0003a0001c0008others(21): Show | 114 | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(111): 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 | a0001c0003a0001c0005a0011c0023 | 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 |
| 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 | a0001c0003t0004a0001c0003t0024 | 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 | 25 | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(22): 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 | 14 | a0001c0001t0027a0001c0006t0009a0001c0006t0013others(11): 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 | 3 | a0001c0001t0027a0001c0006t0025a0001c0006t0026 | 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 | a0001c0011t0031 | 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 | a0001c0001t0012a0001c0014t0012a0002c0004t0045 | 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 | a0001c0001t0023a0001c0003t0023a0018c0015t0044 | 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 | a0001c0001t0032 | 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 | 47 | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(44): 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 | 9 | a0001c0001t0027a0001c0006t0009a0001c0006t0013others(6): 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 | a0001c0001t0036 | 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 | 9 | a0001c0001t0027a0001c0006t0009a0001c0006t0013others(6): 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 | 9 | a0001c0001t0027a0001c0006t0009a0001c0006t0013others(6): 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 | a0001c0001t0008a0001c0002t0008 | 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 | a0001c0021t0014a0004c0030t0030a0004c0031t0029others(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 | 9 | a0001c0001t0027a0001c0006t0009a0001c0006t0013others(6): 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 | a0001c0001t0012a0001c0014t0012 | 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 | a0001c0001t0012a0001c0014t0012 | 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 | a0001c0009t0037 | 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 | a0001c0001t0007a0001c0002t0048a0012c0026t0035 | 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 | a0001c0001t0023a0001c0003t0023a0018c0015t0044 | 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 | a0001c0001t0012a0001c0001t0016a0001c0002t0006others(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 | a0001c0001t0042a0001c0006t0013a0001c0006t0026others(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 | 5 | a0001c0001t0027a0001c0001t0043a0001c0008t0010others(2): 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 | a0001c0006t0009a0010c0025t0009 | 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 | a0001c0001t0003a0001c0001t0022a0001c0002t0003others(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 | a0001c0001t0002a0001c0001t0008a0001c0001t0038others(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 | a0001c0001t0033 | 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 | a0002c0004t0045 | 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 | a0001c0003t0021a0001c0009t0039 | 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 | a0001c0013t0015a0005c0010t0019 | 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 | 10 | a0001c0001t0018a0001c0001t0027a0001c0005t0018others(7): 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 | a0001c0001t0022a0001c0002t0022 | 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 | a0001c0021t0014a0014c0028t0014a0017c0016t0046 | 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 | 11 | a0001c0001t0027a0001c0006t0009a0001c0006t0013others(8): 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 | a0013c0020t0041 | 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 | a0001c0001t0042a0001c0002t0006a0001c0011t0017others(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 | a0001c0001t0023a0001c0003t0023a0018c0015t0044 | 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 | a0001c0001t0012a0001c0014t0012 | 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 | a0013c0020t0041 | 1 | HG06807.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2927T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 70/70 | 2927 | chr1 | 12511951 |
| 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 | a0003c0007t0006g0150a0003c0007t0006g0151a0003c0007t0006g0152others(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 | a0001c0001t0043g0148 | 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 | a0001c0001t0001g0146a0001c0001t0001g0147 | 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 | a0001c0001t0016g0145 | 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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141others(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 | a0001c0001t0005g0140 | 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 | a0001c0002t0003g0006a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0002t0008g0014 | 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 | a0001c0001t0043g0148a0001c0009t0020g0017a0001c0009t0039g0018others(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 | 5 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0022others(2): Show | 5 | HG01433.hp1 HG01891.hp1 HG02486.hp1 others(2): 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 | a0001c0001t0011g0139 | 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 | a0003c0007t0006g0154 | 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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141others(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 | a0001c0001t0001g0037a0001c0001t0002g0034a0001c0001t0002g0038others(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 | a0001c0001t0043g0148a0001c0009t0020g0017a0001c0009t0037g0076others(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 | a0001c0001t0001g0134a0001c0001t0002g0064a0001c0001t0007g0137others(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 | a0001c0001t0002g0072a0001c0001t0005g0140a0001c0001t0022g0069others(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 | a0017c0016t0046g0149 | 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 | a0018c0015t0044g0001 | 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 | a0001c0001t0007g0129a0001c0001t0007g0130a0001c0001t0007g0131others(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 | 3 | a0001c0001t0001g0019a0001c0001t0001g0020a0002c0032t0001g0021 | 3 | HG02486.hp1 HG02735.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.-76-636G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 1/69 | chr1 | 12233555 | ||||||
| chr1:12233887
|
AAAT | A | 9 | a0001c0002t0006g0066a0001c0012t0020g0067a0001c0012t0049g0074others(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 | a0001c0001t0001g0037a0001c0001t0002g0034a0001c0001t0002g0038others(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 | a0018c0015t0044g0001 | 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 | a0001c0006t0025g0003a0001c0006t0026g0010a0001c0008t0013g0002 | 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 | 6 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0022others(3): Show | 6 | HG01433.hp1 HG01891.hp1 HG02486.hp1 others(3): 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 | a0001c0013t0015g0065a0001c0013t0015g0073 | 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 | a0001c0002t0003g0006a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0002t0003g0006a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0002t0040g0047a0001c0021t0014g0046a0018c0015t0044g0001 | 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 | a0001c0001t0001g0037a0001c0001t0002g0034a0001c0001t0002g0038others(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 | a0001c0001t0001g0037a0001c0001t0002g0034a0001c0001t0002g0038others(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 | a0001c0001t0033g0078a0001c0001t0043g0148a0001c0002t0040g0047others(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 | a0001c0001t0001g0123a0001c0001t0001g0124a0001c0001t0036g0122 | 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 | a0001c0009t0039g0018 | 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 | a0001c0001t0036g0122 | 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 | a0001c0001t0043g0148a0001c0009t0020g0017a0001c0009t0037g0076others(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 | a0001c0001t0043g0148a0001c0002t0003g0006a0001c0006t0009g0004others(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 | a0001c0001t0001g0037a0001c0001t0002g0034a0001c0001t0002g0038others(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 | a0001c0001t0043g0148a0001c0002t0003g0006a0001c0006t0009g0004others(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 | a0001c0009t0037g0076 | 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 | a0001c0006t0013g0009 | 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 | a0001c0003t0004g0048a0001c0003t0004g0049a0001c0003t0004g0050others(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 | a0001c0001t0012g0119a0001c0001t0012g0121a0001c0001t0027g0120others(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 | a0001c0021t0014g0046a0018c0015t0044g0001 | 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 | a0001c0003t0004g0048a0001c0003t0004g0049a0001c0003t0004g0050others(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 | a0001c0001t0022g0069a0001c0002t0022g0057a0001c0002t0040g0047others(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 | a0001c0001t0007g0138a0001c0001t0043g0148a0001c0002t0003g0006others(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 | a0001c0001t0001g0146a0001c0001t0001g0147 | 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 | a0001c0001t0043g0148a0001c0002t0003g0006a0001c0006t0009g0004others(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 | a0001c0001t0016g0145a0001c0009t0037g0076 | 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 | a0001c0021t0014g0046 | 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 | a0001c0001t0016g0145a0001c0001t0043g0148a0001c0002t0040g0047others(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 | a0001c0002t0040g0047 | 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 | a0001c0002t0003g0006a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0021t0014g0046 | 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 | a0001c0001t0018g0136 | 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 | a0001c0009t0039g0018 | 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 | a0001c0001t0001g0019a0001c0001t0001g0037a0001c0001t0001g0084others(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 | a0001c0001t0002g0034a0001c0001t0002g0043a0001c0001t0002g0064others(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 | a0001c0001t0043g0148a0001c0002t0003g0006a0001c0006t0009g0004others(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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141others(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 | a0001c0006t0009g0013 | 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 | a0001c0001t0043g0148a0001c0002t0003g0006a0001c0006t0009g0004others(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 | a0001c0002t0003g0006a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0002c0004t0045g0118 | 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 | a0001c0011t0017g0016a0001c0011t0031g0015 | 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 | a0001c0008t0010g0079 | 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 | a0001c0001t0043g0148a0001c0002t0003g0006a0001c0006t0009g0004others(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 | a0018c0015t0044g0001 | 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 | a0001c0001t0043g0148a0001c0009t0020g0017a0001c0009t0037g0076others(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 | 137 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0022others(134): Show | 137 | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(134): 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 | a0001c0009t0020g0017 | 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 | a0018c0015t0044g0001 | 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 | a0018c0015t0044g0001 | 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 | a0001c0001t0001g0086a0001c0001t0001g0117a0001c0001t0001g0134others(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 | a0001c0003t0004g0048a0001c0003t0004g0049a0001c0003t0004g0050others(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 | a0003c0007t0006g0150a0003c0007t0006g0151a0003c0007t0006g0152others(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 | a0018c0015t0044g0001 | 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 | a0001c0001t0001g0037a0001c0001t0002g0034a0001c0001t0002g0038others(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 | a0001c0021t0014g0046 | 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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141others(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 | a0001c0001t0001g0108a0001c0001t0011g0082a0001c0001t0042g0107 | 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 | a0001c0001t0007g0137 | 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 | a0001c0001t0043g0148a0001c0009t0020g0017a0001c0009t0037g0076others(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 | a0001c0001t0018g0136a0004c0030t0030g0143a0004c0031t0029g0142others(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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141others(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 | a0001c0002t0040g0047 | 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 | a0002c0004t0045g0118 | 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 | a0001c0002t0003g0006a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0043g0148a0001c0002t0003g0006a0001c0006t0009g0004others(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 | a0001c0001t0001g0037a0001c0001t0002g0034a0001c0001t0002g0038others(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 | a0001c0021t0014g0046a0018c0015t0044g0001 | 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 | a0001c0001t0001g0109a0001c0001t0001g0110 | 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 | a0001c0001t0043g0148a0001c0009t0020g0017a0001c0009t0037g0076others(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 | a0001c0009t0037g0076 | 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 | a0001c0002t0006g0066a0001c0012t0020g0067a0001c0012t0049g0074 | 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 | a0003c0007t0006g0150a0003c0007t0006g0151a0003c0007t0006g0152others(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 | a0001c0002t0040g0047 | 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 | a0001c0001t0002g0042a0001c0002t0002g0040a0001c0002t0002g0041 | 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 | a0001c0001t0001g0124a0001c0002t0003g0006a0001c0006t0009g0004others(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 | a0001c0024t0003g0127 | 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 | a0001c0021t0014g0046a0018c0015t0044g0001 | 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 | a0001c0002t0003g0006a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0001g0106a0001c0001t0001g0116a0001c0001t0001g0134others(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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141others(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 | a0001c0001t0043g0148a0001c0009t0020g0017a0001c0009t0037g0076others(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 | a0001c0001t0043g0148a0001c0009t0020g0017a0001c0009t0037g0076others(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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141others(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 | a0008c0027t0001g0105 | 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 | a0001c0001t0043g0148 | 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 | a0001c0001t0001g0088a0001c0001t0001g0146a0001c0001t0001g0147 | 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 | a0001c0002t0003g0006a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0021t0014g0046a0018c0015t0044g0001 | 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 | a0001c0009t0039g0018 | 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 | a0001c0001t0003g0104 | 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 | a0001c0001t0043g0148a0001c0002t0003g0006a0001c0006t0009g0004others(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 | a0001c0021t0014g0046a0018c0015t0044g0001 | 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 | a0013c0020t0041g0077 | 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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141others(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 | a0001c0001t0043g0148a0001c0009t0020g0017a0001c0009t0037g0076others(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 | a0001c0001t0043g0148a0001c0009t0020g0017a0001c0009t0037g0076others(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 | a0001c0002t0003g0006a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0043g0148a0001c0009t0020g0017a0001c0009t0037g0076others(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 | a0001c0002t0003g0006a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0018c0015t0044g0001 | 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 | a0001c0009t0037g0076 | 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 | a0018c0015t0044g0001 | 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 | a0008c0027t0001g0105 | 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 | a0001c0001t0043g0148a0001c0002t0003g0006a0001c0006t0009g0004others(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 | a0001c0003t0004g0048a0001c0003t0004g0049a0001c0003t0004g0050others(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 | a0001c0009t0020g0017 | 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 | a0001c0021t0014g0046 | 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 | a0018c0015t0044g0001 | 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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141others(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 | a0001c0001t0001g0125a0001c0001t0011g0139 | 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 | a0017c0016t0046g0149 | 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 | a0002c0004t0034g0103 | 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 | a0001c0021t0014g0046 | 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 | a0001c0001t0001g0037a0001c0001t0002g0034a0001c0001t0002g0038others(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 | a0001c0001t0011g0082 | 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 | a0001c0001t0001g0123a0001c0001t0001g0124 | 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 | a0001c0002t0003g0006a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0002t0003g0006a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0002t0003g0006a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0013t0015g0065a0001c0013t0015g0073a0002c0004t0001g0133others(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 | a0001c0001t0043g0148a0001c0002t0003g0006a0001c0006t0009g0004others(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 | a0011c0023t0005g0036 | 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 | a0001c0002t0003g0006a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0001t0043g0148a0001c0002t0003g0006a0001c0006t0009g0004others(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 | a0001c0001t0043g0148a0001c0002t0003g0006a0001c0006t0009g0004others(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 | a0001c0001t0018g0136 | 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 | a0003c0007t0006g0154 | 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 | a0001c0002t0003g0006a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0032g0102 | 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 | a0001c0001t0043g0148a0001c0009t0020g0017a0001c0009t0037g0076others(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 | a0001c0001t0043g0148a0001c0009t0020g0017a0001c0009t0037g0076others(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 | a0001c0001t0043g0148a0001c0009t0020g0017a0001c0009t0039g0018 | 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 | a0001c0001t0001g0019a0001c0001t0001g0037a0001c0001t0001g0085others(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 | a0001c0001t0002g0064a0001c0001t0036g0122a0001c0002t0008g0025others(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 | a0001c0002t0006g0066a0001c0012t0020g0067a0001c0012t0049g0074others(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 | a0003c0007t0006g0150 | 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 | a0001c0002t0002g0040a0001c0002t0002g0041 | 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 | a0001c0001t0043g0148 | 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 | a0001c0001t0001g0037a0001c0001t0002g0034a0001c0001t0002g0038others(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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141others(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 | a0001c0001t0043g0148 | 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 | a0001c0001t0022g0069 | 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 | a0001c0006t0026g0010 | 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 | a0001c0001t0043g0148a0001c0009t0020g0017a0001c0009t0037g0076others(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 | a0001c0001t0043g0148a0001c0002t0003g0006a0001c0006t0009g0004others(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 | a0001c0021t0014g0046 | 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 | a0001c0001t0003g0104 | 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 | a0001c0001t0043g0148a0001c0009t0020g0017a0001c0009t0039g0018 | 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 | a0001c0001t0043g0148a0001c0009t0020g0017a0001c0009t0037g0076others(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 | a0018c0015t0044g0001 | 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 | a0001c0001t0043g0148a0001c0009t0020g0017a0001c0009t0037g0076others(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 | a0001c0001t0043g0148a0001c0002t0003g0006a0001c0006t0009g0004others(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 | a0001c0001t0001g0088a0001c0001t0005g0140a0001c0001t0011g0082others(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 | a0001c0001t0043g0148a0001c0009t0037g0076a0001c0009t0039g0018others(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 | a0001c0009t0037g0076a0013c0020t0041g0077 | 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 | a0001c0021t0014g0046 | 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 | a0001c0001t0001g0037a0001c0001t0002g0034a0001c0001t0002g0038others(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 | a0008c0027t0001g0105 | 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 | a0018c0015t0044g0001 | 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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141others(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 | a0001c0001t0043g0148a0001c0002t0003g0006a0001c0006t0009g0004others(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 | a0001c0003t0004g0048 | 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 | a0001c0001t0043g0148a0001c0009t0020g0017a0001c0009t0037g0076others(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 | a0001c0001t0043g0148a0001c0002t0003g0006a0001c0002t0040g0047others(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 | a0001c0002t0001g0100a0001c0002t0003g0099 | 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 | a0001c0001t0043g0148a0001c0009t0020g0017a0001c0009t0037g0076others(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 | a0001c0001t0043g0148a0001c0009t0020g0017a0001c0009t0039g0018 | 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 | a0001c0001t0001g0037a0001c0002t0003g0006a0001c0003t0004g0052others(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 | a0001c0001t0001g0037a0001c0001t0002g0034a0001c0001t0002g0038others(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 | a0001c0008t0013g0002 | 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 | a0001c0011t0017g0016a0001c0011t0031g0015a0001c0013t0015g0065others(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 | a0001c0001t0023g0032a0005c0010t0019g0070a0005c0010t0019g0071 | 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 | a0001c0001t0001g0037a0001c0001t0002g0034a0001c0001t0002g0038others(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 | a0001c0001t0001g0146a0001c0001t0001g0147a0001c0002t0001g0089 | 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 | a0001c0002t0003g0006a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0006t0013g0009a0001c0008t0010g0012a0001c0008t0010g0079others(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 | 52 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0022others(49): Show | 52 | HG00438.hp1 HG01071.hp1 HG01071.hp2 others(49): 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 | a0001c0001t0001g0037a0001c0001t0002g0034a0001c0001t0002g0038others(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 | a0001c0001t0002g0042a0001c0001t0022g0069a0001c0002t0022g0057others(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 | a0001c0002t0003g0006a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0043g0148a0001c0009t0020g0017a0001c0009t0037g0076others(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 | a0017c0016t0046g0149 | 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 | a0001c0001t0043g0148a0001c0009t0020g0017a0001c0009t0037g0076others(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 | a0001c0001t0001g0106a0001c0002t0001g0100a0001c0002t0003g0099 | 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 | a0001c0001t0001g0146a0001c0001t0001g0147 | 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 | a0001c0021t0014g0046 | 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 | a0001c0001t0001g0108a0001c0001t0042g0107 | 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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141others(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 | a0001c0002t0003g0006a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0043g0148a0001c0009t0020g0017a0001c0009t0037g0076others(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 | a0001c0001t0001g0037a0001c0001t0002g0034a0001c0001t0002g0038others(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 | a0001c0001t0002g0043a0001c0001t0002g0072 | 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 | a0001c0001t0043g0148a0001c0009t0020g0017a0001c0009t0037g0076others(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 | a0001c0003t0004g0051 | 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 | a0001c0001t0005g0140 | 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 | a0001c0001t0043g0148a0001c0002t0003g0006a0001c0006t0009g0004others(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 | a0001c0021t0014g0046 | 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 | a0001c0003t0001g0058a0001c0003t0004g0048a0001c0003t0004g0049others(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 | a0001c0001t0022g0069a0001c0002t0022g0057 | 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 | a0001c0001t0005g0140 | 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 | a0001c0002t0003g0006a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0001g0086a0001c0001t0001g0117a0001c0001t0001g0134others(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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141others(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 | a0002c0004t0034g0103 | 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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141others(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 | a0001c0002t0006g0066a0001c0012t0020g0067a0001c0012t0049g0074 | 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 | a0001c0001t0043g0148a0001c0002t0003g0006a0001c0006t0009g0004others(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 | a0001c0021t0014g0046 | 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 | a0001c0009t0039g0018 | 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 | a0001c0011t0017g0016a0001c0011t0031g0015 | 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 | a0001c0002t0003g0006a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0016g0091 | 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 | a0001c0001t0022g0069a0001c0001t0043g0148a0001c0002t0002g0035others(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 | a0001c0001t0001g0037a0001c0001t0002g0034a0001c0001t0002g0038others(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 | a0001c0001t0043g0148a0001c0002t0003g0006a0001c0006t0009g0004others(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 | a0001c0021t0014g0046 | 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 | a0003c0007t0006g0150a0003c0007t0006g0151a0003c0007t0006g0152others(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 | a0003c0007t0006g0150a0003c0007t0006g0151a0003c0007t0006g0152others(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 | a0002c0004t0001g0081a0002c0004t0001g0090a0002c0004t0001g0094others(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 | a0001c0001t0043g0148a0001c0002t0003g0006a0001c0006t0009g0004others(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 | a0001c0002t0003g0006a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0027g0120 | 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 | a0001c0009t0039g0018 | 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 | a0001c0001t0001g0037a0001c0001t0002g0034a0001c0001t0002g0038others(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 | a0001c0001t0043g0148a0001c0009t0020g0017a0001c0009t0037g0076others(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 | a0001c0001t0001g0037a0001c0001t0002g0034a0001c0001t0002g0038others(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 | a0001c0003t0004g0053 | 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 | a0003c0007t0006g0150a0003c0007t0006g0151a0003c0007t0006g0152others(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 | a0001c0002t0006g0066a0001c0012t0020g0067a0001c0012t0049g0074 | 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 | a0001c0001t0043g0148a0001c0002t0003g0006a0001c0006t0009g0004others(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 | a0001c0002t0003g0006a0001c0006t0009g0004a0001c0006t0009g0007others(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 | 38 | a0001c0001t0001g0020a0001c0001t0001g0088a0001c0001t0001g0098others(35): Show | 38 | HG01071.hp2 HG01099.hp2 HG01106.hp1 others(35): 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 | a0001c0001t0001g0123a0001c0001t0001g0124a0001c0008t0010g0079others(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 | a0001c0002t0040g0047 | 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 | a0001c0001t0001g0019a0001c0001t0005g0140a0001c0001t0007g0129others(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 | a0001c0001t0001g0037a0001c0001t0002g0034a0001c0001t0002g0038others(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 | a0001c0003t0023g0063 | 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 | a0001c0003t0021g0055a0001c0003t0021g0056 | 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 | a0002c0004t0001g0133a0006c0017t0001g0083 | 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 | a0001c0001t0007g0130a0001c0001t0012g0119a0001c0001t0012g0121others(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 | a0001c0002t0003g0006 | 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 | a0001c0001t0043g0148a0001c0009t0020g0017a0001c0009t0039g0018others(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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141others(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 | a0001c0001t0022g0069a0001c0002t0022g0057 | 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 | a0001c0006t0009g0007 | 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 | a0001c0001t0043g0148a0001c0009t0020g0017a0001c0009t0037g0076others(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 | a0001c0002t0006g0066a0001c0012t0020g0067a0001c0012t0049g0074 | 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 | a0001c0001t0001g0146a0001c0001t0001g0147 | 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 | 23 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0022others(20): Show | 23 | HG01071.hp1 HG01099.hp1 HG01255.hp1 others(20): 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 | a0001c0002t0040g0047a0001c0021t0014g0046 | 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 | a0001c0001t0043g0148 | 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 | 136 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0022others(133): Show | 136 | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(133): 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 | a0001c0001t0001g0037a0011c0023t0005g0036 | 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 | a0013c0020t0041g0077 | 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 | a0008c0027t0001g0105 | 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 | a0013c0020t0041g0077 | 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 | a0003c0007t0006g0154 | 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 | a0001c0003t0004g0053 | 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 | a0001c0001t0001g0112a0001c0001t0001g0113 | 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 | a0001c0021t0014g0046 | 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 | a0001c0009t0037g0076a0013c0020t0041g0077 | 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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141others(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 | a0001c0001t0002g0043a0001c0001t0002g0072 | 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 | a0001c0001t0002g0043a0001c0001t0002g0072 | 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 | a0001c0001t0001g0037a0001c0001t0002g0034a0001c0001t0002g0038others(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 | a0001c0009t0037g0076 | 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 | a0001c0001t0001g0146a0001c0001t0001g0147a0001c0002t0002g0024others(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 | a0003c0007t0006g0154 | 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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0009t0020g0017a0001c0009t0037g0076a0001c0009t0039g0018others(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 | a0002c0004t0001g0081a0002c0004t0001g0090a0002c0004t0001g0094others(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 | a0001c0001t0042g0107 | 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 | a0001c0002t0006g0066a0001c0012t0020g0067a0001c0012t0049g0074others(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 | a0001c0021t0014g0046 | 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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0012c0026t0035g0128 | 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 | a0001c0009t0020g0017a0001c0009t0037g0076a0001c0009t0039g0018others(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 | a0001c0002t0006g0066a0001c0012t0020g0067a0001c0012t0049g0074others(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 | a0013c0020t0041g0077 | 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 | a0001c0001t0001g0037a0001c0001t0002g0034a0001c0001t0002g0038others(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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0009t0020g0017a0001c0009t0037g0076a0001c0009t0039g0018others(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 | a0001c0001t0001g0037a0001c0001t0002g0034a0001c0001t0002g0038others(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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141others(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 | a0001c0001t0001g0037a0001c0001t0002g0034a0001c0001t0002g0038others(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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0021t0014g0046 | 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 | a0001c0021t0014g0046 | 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 | a0001c0009t0020g0017a0001c0009t0037g0076a0001c0009t0039g0018others(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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0021t0014g0046 | 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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0003c0007t0006g0154a0008c0027t0001g0105 | 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 | a0001c0002t0040g0047 | 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 | a0001c0001t0042g0107 | 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 | a0001c0009t0020g0017a0001c0009t0039g0018 | 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 | a0001c0001t0001g0125a0001c0001t0005g0140a0001c0001t0036g0122others(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 | a0001c0003t0023g0063 | 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 | 88 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0022others(85): Show | 88 | HG00408.hp2 HG00438.hp2 HG01099.hp1 others(85): 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 | a0001c0003t0021g0055a0001c0003t0021g0056 | 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 | a0001c0021t0014g0046 | 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 | a0001c0001t0001g0037a0001c0001t0002g0034a0001c0001t0002g0038others(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 | a0001c0009t0037g0076a0013c0020t0041g0077 | 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 | a0001c0001t0043g0148 | 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 | a0001c0021t0014g0046 | 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 | a0001c0021t0014g0046 | 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 | a0001c0001t0001g0146a0001c0001t0001g0147a0001c0001t0016g0091others(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 | a0001c0006t0025g0003a0001c0006t0026g0010a0014c0028t0014g0141others(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 | a0004c0030t0030g0143a0004c0031t0029g0142a0015c0029t0017g0144 | 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 | 17 | a0001c0001t0001g0020a0001c0001t0001g0022a0001c0001t0001g0023others(14): Show | 17 | HG00438.hp1 HG01099.hp1 HG01433.hp1 others(14): 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 | a0001c0001t0001g0084a0001c0001t0001g0085a0001c0001t0001g0086others(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 | a0001c0001t0001g0123a0001c0001t0007g0130a0001c0001t0012g0121others(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 | a0001c0001t0001g0037a0001c0001t0012g0119a0011c0023t0005g0036 | 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 | a0001c0011t0017g0016a0001c0011t0031g0015 | 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 | a0001c0002t0040g0047 | 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 | a0001c0001t0022g0069a0001c0002t0022g0057 | 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 | a0001c0021t0014g0046 | 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 | a0001c0021t0014g0046 | 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 | a0001c0003t0001g0058a0001c0003t0004g0050a0001c0003t0023g0063 | 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 | a0001c0021t0014g0046 | 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 | a0001c0001t0002g0042a0001c0001t0002g0043a0001c0001t0002g0064others(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 | a0001c0001t0001g0022a0001c0001t0011g0082a0001c0001t0033g0078others(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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0023g0032others(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 | 33 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0022others(30): Show | 33 | HG00408.hp1 HG01071.hp1 HG01099.hp1 others(30): 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 | a0001c0001t0032g0102a0001c0001t0038g0126a0001c0002t0001g0100others(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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141others(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 | a0001c0001t0005g0140a0001c0005t0005g0068a0001c0006t0013g0009others(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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141others(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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0009t0037g0076 | 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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0009t0020g0017a0001c0009t0039g0018 | 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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141others(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 | a0001c0021t0014g0046 | 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 | a0001c0001t0001g0037a0001c0001t0002g0034a0001c0001t0002g0038others(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 | a0001c0001t0001g0037a0001c0001t0002g0034a0001c0001t0002g0038others(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 | a0001c0001t0001g0037a0001c0001t0002g0034a0001c0001t0002g0038others(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 | a0001c0005t0011g0060 | 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 | a0001c0001t0043g0148 | 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 | a0001c0002t0006g0066a0001c0012t0020g0067a0001c0012t0049g0074 | 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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141others(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 | a0003c0007t0006g0150 | 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 | a0001c0002t0047g0044 | 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 | a0001c0001t0001g0037a0001c0001t0002g0034a0001c0001t0002g0038others(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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0003c0007t0006g0154 | 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 | a0017c0016t0046g0149 | 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 | a0001c0002t0006g0066a0001c0011t0017g0016a0001c0011t0031g0015others(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 | a0001c0001t0032g0102 | 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 | a0001c0001t0002g0043a0001c0001t0002g0072 | 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 | a0001c0021t0014g0046 | 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 | a0001c0001t0001g0109a0001c0001t0001g0110 | 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 | a0001c0013t0015g0065a0001c0013t0015g0073 | 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 | a0001c0001t0001g0088a0001c0001t0002g0064a0004c0030t0030g0143others(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 | a0001c0009t0020g0017a0001c0009t0039g0018 | 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 | a0001c0003t0023g0063 | 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 | a0001c0001t0016g0145 | 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 | a0001c0021t0014g0046 | 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 | a0001c0001t0001g0023a0001c0001t0001g0037a0001c0001t0001g0084others(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 | a0001c0006t0009g0007a0001c0006t0009g0013a0001c0006t0013g0009others(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 | a0001c0009t0020g0017a0001c0009t0037g0076a0001c0009t0039g0018others(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 | a0001c0001t0001g0086a0001c0001t0001g0087a0001c0001t0001g0124others(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 | a0001c0003t0004g0049a0001c0003t0004g0050a0001c0003t0004g0051others(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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0013t0015g0065a0001c0013t0015g0073 | 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 | a0001c0001t0001g0112 | 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 | a0001c0009t0037g0076a0013c0020t0041g0077 | 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 | a0001c0009t0037g0076 | 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 | a0004c0030t0030g0143 | 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 | a0001c0009t0020g0017a0001c0009t0037g0076a0001c0009t0039g0018others(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 | a0003c0007t0006g0150a0003c0007t0006g0151a0003c0007t0006g0152others(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 | a0001c0011t0017g0016a0001c0011t0031g0015 | 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 | a0001c0021t0014g0046 | 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 | a0015c0029t0017g0144 | 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 | a0001c0002t0040g0047 | 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 | a0001c0009t0020g0017a0001c0009t0039g0018 | 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 | a0001c0011t0017g0016a0001c0011t0031g0015 | 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 | a0001c0001t0001g0037a0001c0001t0002g0034a0001c0001t0002g0038others(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 | a0001c0011t0017g0016a0001c0011t0031g0015 | 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 | a0001c0021t0014g0046 | 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 | a0001c0001t0001g0084a0001c0001t0001g0085a0001c0001t0001g0087others(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 | a0001c0001t0001g0086a0001c0001t0011g0139a0003c0007t0006g0151others(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 | a0001c0001t0022g0069a0001c0002t0022g0057a0001c0002t0040g0047others(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 | a0001c0005t0001g0132a0001c0005t0018g0111a0001c0009t0037g0076others(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 | a0001c0001t0022g0069a0001c0002t0022g0057a0001c0002t0040g0047others(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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0001t0001g0037a0001c0001t0002g0034a0001c0001t0002g0038others(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 | a0013c0020t0041g0077 | 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 | a0001c0002t0022g0057 | 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 | a0001c0001t0038g0126 | 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 | a0001c0003t0001g0058a0001c0003t0023g0063 | 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 | a0001c0012t0020g0067 | 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 | a0017c0016t0046g0149 | 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 | a0001c0009t0020g0017a0001c0009t0037g0076a0001c0009t0039g0018others(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 | a0001c0009t0037g0076a0013c0020t0041g0077 | 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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141 | 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 | a0001c0001t0033g0078 | 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 | a0001c0009t0020g0017a0001c0009t0037g0076a0001c0009t0039g0018others(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 | a0001c0002t0006g0066a0001c0012t0020g0067a0001c0012t0049g0074 | 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 | a0001c0001t0001g0037a0011c0023t0005g0036 | 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 | 141 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0022others(138): Show | 141 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(138): 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 | a0001c0001t0001g0117a0001c0001t0002g0064a0001c0002t0001g0089others(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 | a0015c0029t0017g0144 | 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 | a0001c0009t0020g0017a0001c0009t0037g0076a0001c0009t0039g0018others(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 | a0001c0009t0020g0017a0001c0009t0039g0018 | 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 | a0003c0007t0006g0150a0003c0007t0006g0151a0003c0007t0006g0152others(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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0002t0002g0040a0001c0002t0002g0041 | 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 | a0005c0010t0019g0070a0005c0010t0019g0071 | 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 | a0001c0001t0001g0112a0001c0001t0001g0113 | 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 | a0018c0015t0044g0001 | 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 | a0001c0001t0012g0119a0001c0001t0038g0126a0001c0006t0009g0004others(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 | a0001c0001t0011g0082 | 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 | a0001c0001t0033g0078 | 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 | a0001c0001t0001g0037a0001c0001t0002g0034a0001c0001t0002g0038others(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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | ||||||
| chr1:12304175
|
C | T | 153 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0022others(150): Show | 153 | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(150): Show |
intron_variant | MODIFIER | c.6217-331C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 25/69 | chr1 | 12304175 | ||||||
| chr1:12304207
|
A | G | 1 | a0001c0021t0014g0046 | 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 | a0001c0024t0003g0127 | 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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0018c0015t0044g0001 | 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 | a0002c0004t0034g0103 | 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 | a0001c0001t0043g0148 | 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 | a0001c0002t0047g0044a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0006t0009g0007 | 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 | a0001c0021t0014g0046 | 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 | a0001c0001t0001g0037a0001c0001t0002g0034a0001c0001t0002g0038others(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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0001t0018g0136 | 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 | a0001c0009t0037g0076a0013c0020t0041g0077 | 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 | a0001c0009t0020g0017a0001c0009t0039g0018 | 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 | a0001c0009t0037g0076 | 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 | a0001c0001t0027g0120 | 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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | ||||||
| chr1:12307341
|
G | A | 1 | a0001c0001t0001g0020 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.6440-1090G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 26/69 | chr1 | 12307341 | ||||||
| chr1:12307724
|
T | C | 2 | a0004c0030t0030g0143a0004c0031t0029g0142 | 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 | a0001c0002t0002g0045a0001c0009t0020g0017a0001c0009t0037g0076others(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 | a0001c0021t0014g0046 | 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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0001t0012g0119a0001c0001t0012g0121a0001c0001t0027g0120others(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 | a0001c0009t0020g0017a0001c0009t0037g0076a0004c0030t0030g0143others(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 | a0001c0021t0014g0046 | 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 | a0001c0021t0014g0046 | 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 | a0013c0020t0041g0077 | 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 | a0001c0009t0020g0017 | 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 | a0001c0021t0014g0046 | 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 | a0001c0001t0001g0108a0001c0001t0001g0114a0001c0001t0001g0116others(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 | a0001c0001t0001g0106a0001c0001t0007g0130a0001c0001t0007g0131others(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 | a0001c0001t0001g0037a0001c0001t0002g0034a0001c0001t0002g0042others(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 | a0001c0001t0001g0108a0001c0001t0001g0110a0001c0001t0007g0130others(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 | a0001c0001t0001g0123a0001c0001t0001g0124a0001c0001t0036g0122 | 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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141others(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 | a0001c0009t0020g0017a0001c0009t0037g0076a0001c0009t0039g0018others(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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0001t0042g0107 | 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 | a0001c0003t0021g0055a0001c0003t0021g0056a0001c0006t0025g0003others(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 | a0001c0009t0020g0017a0001c0021t0014g0046a0004c0030t0030g0143others(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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0009t0037g0076 | 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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0006t0009g0004a0001c0006t0009g0013a0010c0025t0009g0005 | 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 | a0001c0001t0032g0102a0001c0006t0009g0007a0001c0006t0025g0003others(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 | a0005c0010t0019g0071 | 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 | a0001c0001t0033g0078 | 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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0001t0016g0145a0001c0001t0033g0078a0001c0006t0009g0004others(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 | a0001c0006t0009g0004a0001c0006t0009g0013a0010c0025t0009g0005 | 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 | a0001c0001t0016g0145a0001c0001t0033g0078a0001c0006t0009g0007others(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 | a0001c0001t0016g0145a0001c0001t0033g0078a0001c0001t0043g0148others(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 | a0001c0001t0001g0088a0001c0001t0001g0098a0001c0001t0001g0106others(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 | a0001c0001t0003g0092 | 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 | a0001c0001t0012g0119a0001c0001t0012g0121a0001c0001t0022g0069others(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 | a0001c0006t0009g0007a0001c0006t0013g0009a0001c0006t0025g0003others(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 | a0001c0006t0009g0004a0001c0006t0009g0013a0010c0025t0009g0005 | 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 | a0001c0001t0001g0037a0001c0001t0002g0034a0001c0001t0002g0038others(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 | a0001c0002t0006g0066a0001c0006t0009g0004a0001c0006t0009g0013others(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 | a0001c0001t0001g0037a0001c0001t0002g0034a0001c0001t0002g0038others(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 | a0001c0001t0003g0092a0001c0001t0003g0097a0001c0001t0003g0101 | 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 | a0001c0002t0002g0040a0001c0002t0002g0041 | 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 | a0003c0007t0006g0151 | 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 | a0001c0002t0002g0028a0001c0009t0020g0017a0001c0009t0037g0076others(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 | a0001c0021t0014g0046 | 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 | a0001c0009t0020g0017 | 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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0002t0008g0026 | 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 | a0001c0001t0001g0037a0001c0001t0002g0034a0001c0001t0002g0038others(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 | a0001c0001t0012g0119a0001c0001t0012g0121a0001c0001t0027g0120others(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 | a0003c0007t0006g0151a0003c0007t0006g0152a0003c0007t0006g0153 | 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 | a0001c0021t0014g0046 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.6936-1093A>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 29/69 | chr1 | 12313022 | ||||||
| chr1:12313208
|
G | A | 1 | a0001c0001t0001g0020 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.6936-907G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 29/69 | chr1 | 12313208 | ||||||
| chr1:12313291
|
ATTC | A | 2 | a0001c0003t0001g0058a0001c0003t0023g0063 | 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 | a0001c0001t0001g0022a0001c0001t0001g0108a0001c0001t0001g0134others(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 | a0001c0001t0001g0114a0001c0001t0005g0140a0001c0002t0002g0029others(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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141others(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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141others(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 | a0001c0002t0047g0044 | 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 | a0001c0001t0001g0037a0001c0001t0002g0034a0001c0001t0002g0038others(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 | a0001c0003t0005g0061 | 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 | a0001c0001t0033g0078 | 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 | a0003c0007t0006g0154 | 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 | a0001c0001t0001g0037a0001c0001t0002g0034a0001c0001t0002g0038others(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 | a0001c0021t0014g0046 | 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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141 | 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 | a0001c0001t0001g0037a0001c0001t0002g0034a0001c0001t0002g0038others(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 | a0001c0006t0025g0003 | 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 | a0001c0021t0014g0046 | 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 | a0001c0002t0003g0099 | 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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141 | 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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141 | 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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141others(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 | a0001c0003t0005g0061 | 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 | a0001c0001t0043g0148 | 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 | a0001c0001t0002g0034a0001c0001t0002g0038a0009c0022t0002g0033 | 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 | a0001c0001t0001g0037a0011c0023t0005g0036 | 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 | a0001c0009t0020g0017a0001c0009t0039g0018 | 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 | a0001c0003t0004g0048a0001c0003t0004g0049a0001c0003t0004g0050others(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 | a0001c0009t0020g0017a0001c0009t0039g0018 | 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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0001t0018g0136 | 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 | a0001c0006t0013g0009a0001c0006t0025g0003a0001c0006t0026g0010others(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 | a0001c0001t0003g0104 | 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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0009t0020g0017a0001c0009t0037g0076a0001c0009t0039g0018others(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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141others(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 | a0002c0004t0001g0081a0002c0004t0001g0090a0002c0004t0001g0094others(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 | a0012c0026t0035g0128 | 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 | a0001c0021t0014g0046 | 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 | a0001c0001t0012g0119a0001c0001t0012g0121a0001c0001t0027g0120others(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 | a0001c0009t0037g0076 | 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 | a0001c0021t0014g0046 | 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 | 149 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0022others(146): Show | 149 | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(146): 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 | a0011c0023t0005g0036 | 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 | a0005c0010t0019g0070 | 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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0021t0014g0046 | 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 | a0001c0001t0002g0034a0009c0022t0002g0033 | 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 | a0001c0009t0020g0017a0001c0009t0037g0076a0013c0020t0041g0077 | 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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0001t0003g0092 | 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 | a0001c0011t0017g0016a0001c0011t0031g0015 | 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 | a0001c0001t0001g0037a0001c0001t0002g0034a0001c0001t0002g0038others(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 | a0018c0015t0044g0001 | 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 | a0001c0009t0020g0017a0001c0009t0037g0076 | 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 | a0001c0021t0014g0046 | 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 | a0001c0002t0006g0066a0001c0012t0020g0067a0001c0012t0049g0074 | 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 | a0004c0030t0030g0143a0004c0031t0029g0142a0013c0020t0041g0077others(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 | a0001c0009t0020g0017 | 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 | a0001c0001t0022g0069 | 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 | a0013c0020t0041g0077 | 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 | a0001c0021t0014g0046 | 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 | a0001c0002t0006g0066a0001c0012t0020g0067a0001c0012t0049g0074 | 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 | a0001c0011t0017g0016a0001c0011t0031g0015 | 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 | a0001c0003t0023g0063 | 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 | a0001c0009t0020g0017a0001c0009t0039g0018 | 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 | a0003c0007t0006g0150 | 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 | a0001c0009t0020g0017a0001c0009t0037g0076a0001c0009t0039g0018others(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 | a0006c0017t0001g0083 | 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 | a0001c0009t0020g0017a0001c0009t0037g0076a0001c0009t0039g0018others(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 | a0001c0009t0020g0017a0001c0009t0039g0018 | 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 | a0001c0009t0037g0076 | 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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0001c0001t0001g0037a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0001g0146a0001c0001t0001g0147a0001c0021t0014g0046 | 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 | a0004c0031t0029g0142 | 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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0001c0001t0001g0087a0001c0003t0004g0053a0001c0009t0020g0017others(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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0001t0001g0113a0001c0001t0002g0034a0001c0001t0002g0038others(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 | a0001c0003t0004g0051 | 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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0001c0011t0017g0016a0001c0011t0031g0015 | 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 | a0001c0002t0008g0025a0001c0009t0037g0076a0002c0004t0001g0133others(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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0002c0004t0001g0081a0002c0004t0001g0133a0002c0004t0045g0118 | 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 | a0002c0004t0001g0094a0002c0004t0001g0095 | 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 | a0001c0008t0013g0002 | 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 | a0001c0009t0037g0076a0013c0020t0041g0077 | 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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141others(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 | a0001c0006t0013g0009a0001c0009t0020g0017a0001c0009t0037g0076others(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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141 | 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 | a0001c0009t0020g0017a0001c0009t0037g0076a0001c0009t0039g0018others(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 | a0001c0001t0001g0088a0001c0001t0001g0098a0001c0001t0001g0146others(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 | a0001c0002t0006g0066a0001c0003t0001g0058a0001c0011t0017g0016others(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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0018c0015t0044g0001 | 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 | a0001c0009t0037g0076 | 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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0013c0020t0041g0077 | 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 | a0001c0009t0020g0017a0001c0009t0037g0076a0001c0009t0039g0018others(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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0015c0029t0017g0144 | 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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0001c0009t0020g0017a0001c0009t0037g0076a0001c0009t0039g0018others(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 | a0001c0003t0004g0050 | 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 | a0001c0009t0020g0017a0001c0009t0037g0076a0001c0009t0039g0018others(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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | 24 | a0001c0001t0001g0020a0001c0001t0001g0123a0001c0001t0007g0130others(21): Show | 24 | HG00408.hp1 HG01099.hp2 HG01255.hp2 others(21): 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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0011c0023t0005g0036 | 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 | a0001c0001t0008g0027 | 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 | a0001c0001t0001g0123a0001c0001t0001g0124a0001c0001t0036g0122 | 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 | a0001c0009t0020g0017a0001c0009t0037g0076a0001c0009t0039g0018others(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 | a0001c0001t0022g0069a0001c0002t0022g0057a0001c0002t0040g0047 | 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 | a0018c0015t0044g0001 | 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 | a0001c0006t0009g0004 | 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 | a0013c0020t0041g0077 | 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 | a0001c0003t0001g0058a0001c0003t0023g0063 | 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 | a0001c0005t0005g0068 | 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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0013c0020t0041g0077 | 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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0009t0020g0017a0001c0009t0039g0018 | 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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0001c0005t0018g0111 | 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 | a0001c0021t0014g0046 | 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 | a0001c0001t0002g0034a0001c0001t0002g0038a0009c0022t0002g0033 | 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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0001c0008t0010g0079 | 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 | a0001c0021t0014g0046 | 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 | a0001c0009t0020g0017 | 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 | a0001c0001t0036g0122 | 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 | a0001c0008t0013g0002 | 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 | a0001c0003t0004g0053 | 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 | a0001c0001t0012g0119a0001c0001t0018g0136a0001c0002t0002g0039others(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 | 6 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0022others(3): Show | 6 | HG01433.hp1 HG01891.hp1 HG02083.hp2 others(3): 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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0002t0006g0066a0001c0012t0020g0067a0001c0012t0049g0074 | 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 | a0018c0015t0044g0001 | 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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0021t0014g0046 | 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 | a0013c0020t0041g0077 | 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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | 2 | a0001c0001t0001g0019a0001c0001t0001g0020 | 2 | HG02486.hp1 homoSapiens_chm13v2.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 | a0001c0012t0020g0067a0001c0012t0049g0074 | 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 | a0001c0009t0020g0017a0001c0009t0037g0076a0001c0009t0039g0018others(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 | a0001c0001t0011g0082 | 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 | a0001c0011t0017g0016a0001c0011t0031g0015 | 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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141others(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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0001c0002t0008g0026 | 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 | a0001c0003t0021g0055a0001c0003t0021g0056 | 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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0018c0015t0044g0001 | 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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0001t0032g0102 | 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 | a0001c0009t0037g0076 | 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 | a0001c0009t0020g0017a0001c0009t0039g0018 | 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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141 | 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 | a0001c0001t0002g0043a0001c0001t0002g0072 | 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 | a0018c0015t0044g0001 | 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 | a0001c0001t0005g0140a0001c0001t0022g0069a0001c0001t0023g0032others(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 | a0001c0024t0003g0127 | 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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0001c0002t0006g0066a0001c0012t0020g0067a0001c0012t0049g0074others(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 | a0001c0011t0017g0016a0001c0011t0031g0015 | 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 | a0015c0029t0017g0144 | 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 | a0001c0001t0001g0037a0001c0001t0002g0034a0001c0001t0002g0038others(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 | a0001c0009t0020g0017a0001c0009t0037g0076a0001c0009t0039g0018others(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 | a0001c0003t0004g0048a0001c0003t0004g0049a0001c0003t0004g0050others(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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0013c0020t0041g0077 | 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 | a0001c0009t0037g0076 | 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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0009t0020g0017a0001c0009t0039g0018 | 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 | a0001c0009t0020g0017a0001c0009t0039g0018 | 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 | a0004c0031t0029g0142 | 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 | a0001c0013t0015g0065a0001c0013t0015g0073 | 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 | a0001c0013t0015g0065a0001c0013t0015g0073 | 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 | a0001c0008t0010g0079 | 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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141 | 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 | a0001c0021t0014g0046 | 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 | a0001c0001t0001g0108a0001c0001t0042g0107 | 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 | a0006c0017t0001g0083 | 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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0001t0011g0139 | 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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0001t0043g0148 | 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 | a0001c0001t0016g0091 | 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 | a0001c0009t0020g0017a0001c0009t0039g0018 | 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 | a0001c0009t0037g0076 | 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 | a0001c0009t0020g0017a0001c0009t0037g0076a0001c0009t0039g0018others(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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0001c0002t0003g0099 | 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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141 | 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 | a0001c0009t0020g0017a0001c0009t0039g0018 | 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 | a0001c0001t0002g0064a0001c0001t0008g0027a0001c0002t0002g0024others(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 | 151 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0022others(148): Show | 151 | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(148): 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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0002c0004t0034g0103 | 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 | a0003c0007t0006g0152 | 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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0003c0007t0006g0152 | 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 | a0003c0007t0006g0152 | 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 | a0003c0007t0006g0152 | 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 | a0003c0007t0006g0152 | 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 | a0003c0007t0006g0152 | 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 | a0003c0007t0006g0152 | 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 | a0003c0007t0006g0152 | 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 | a0003c0007t0006g0152 | 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 | a0003c0007t0006g0152 | 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 | a0015c0029t0017g0144 | 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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0018c0015t0044g0001 | 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 | a0001c0001t0011g0139 | 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 | a0001c0001t0001g0125a0001c0001t0011g0139 | 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 | a0018c0015t0044g0001 | 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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0001t0043g0148 | 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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0003c0007t0006g0150 | 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 | a0001c0001t0001g0087a0001c0001t0001g0088a0001c0001t0001g0109others(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 | a0001c0001t0001g0023a0001c0001t0001g0085a0001c0001t0001g0108others(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 | a0001c0001t0001g0106a0001c0001t0002g0042a0001c0001t0003g0104others(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 | 21 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0123others(18): Show | 21 | HG00438.hp1 HG01361.hp2 HG01928.hp2 others(18): 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 | a0001c0001t0001g0037a0001c0001t0002g0064a0001c0001t0003g0097others(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 | a0001c0001t0001g0098a0001c0001t0001g0146a0001c0001t0001g0147others(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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0043others(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 | a0001c0002t0040g0047 | 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 | a0001c0001t0005g0140 | 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 | a0001c0001t0001g0022a0001c0003t0004g0053a0001c0003t0021g0055others(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 | a0001c0006t0009g0004a0001c0006t0009g0013a0001c0006t0013g0009others(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 | a0015c0029t0017g0144 | 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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141 | 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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0001t0001g0087a0001c0001t0001g0123a0001c0001t0001g0125others(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 | a0001c0001t0001g0088a0001c0002t0006g0066a0001c0008t0028g0008others(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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0021t0014g0046 | 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 | a0018c0015t0044g0001 | 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 | a0001c0009t0020g0017a0001c0009t0039g0018 | 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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0001t0003g0097 | 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 | a0013c0020t0041g0077 | 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 | a0001c0021t0014g0046 | 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 | a0001c0011t0017g0016a0001c0011t0031g0015 | 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 | a0001c0001t0011g0139 | 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 | a0001c0005t0005g0059a0001c0005t0005g0062a0001c0005t0005g0068others(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 | a0001c0001t0043g0148 | 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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0002t0006g0066a0001c0012t0020g0067a0001c0012t0049g0074 | 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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141 | 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 | a0001c0001t0001g0123a0001c0001t0001g0124a0001c0001t0036g0122 | 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 | a0001c0009t0020g0017a0001c0009t0037g0076a0001c0009t0039g0018others(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 | A | 1 | a0001c0001t0001g0020 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.9998+645G>A | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 49/69 | chr1 | 12357169 | ||||||
| chr1:12357169
|
G | T | 12 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0001t0002g0064a0001c0002t0002g0035 | 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 | a0001c0001t0033g0078 | 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 | a0001c0021t0014g0046 | 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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0002t0002g0040a0001c0002t0002g0041 | 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 | a0001c0009t0020g0017a0001c0009t0037g0076a0001c0009t0039g0018others(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 | a0001c0008t0013g0002 | 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 | a0001c0003t0004g0048a0001c0003t0004g0049a0001c0003t0004g0050others(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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0017c0016t0046g0149 | 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 | a0001c0002t0006g0066a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0043g0148 | 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 | a0001c0001t0001g0087a0002c0004t0001g0135 | 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 | a0001c0001t0002g0042a0001c0002t0002g0040a0001c0002t0002g0041 | 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 | a0001c0001t0002g0043a0001c0001t0002g0072a0001c0002t0002g0039 | 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 | a0001c0002t0006g0066a0001c0011t0017g0016a0001c0011t0031g0015others(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 | a0001c0001t0022g0069a0001c0002t0001g0089a0001c0002t0022g0057 | 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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0064others(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 | a0001c0002t0040g0047a0001c0003t0004g0050a0001c0003t0004g0051others(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 | a0001c0001t0001g0037a0001c0001t0002g0034a0001c0001t0002g0038others(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 | a0001c0003t0001g0058a0001c0003t0004g0048a0001c0003t0004g0049others(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 | 97 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0022others(94): Show | 97 | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(94): 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 | a0001c0001t0011g0082 | 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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0002t0006g0066a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0002t0006g0066a0001c0011t0017g0016a0001c0011t0031g0015others(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 | a0001c0002t0006g0066a0001c0012t0020g0067a0001c0012t0049g0074others(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 | a0005c0010t0019g0070 | 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 | a0001c0001t0012g0119a0001c0001t0012g0121 | 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 | a0013c0020t0041g0077 | 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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141 | 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 | a0001c0009t0020g0017a0001c0009t0037g0076a0001c0009t0039g0018others(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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0002t0006g0066a0001c0011t0017g0016a0001c0011t0031g0015others(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 | a0001c0001t0033g0078 | 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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0001t0001g0112 | 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 | 80 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0022others(77): Show | 80 | HG00408.hp1 HG00438.hp1 HG00438.hp2 others(77): 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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0015c0029t0017g0144 | 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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0001t0023g0032 | 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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141 | 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 | a0001c0009t0020g0017a0001c0009t0039g0018 | 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 | a0001c0021t0014g0046 | 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 | a0003c0007t0006g0153 | 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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141 | 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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0001c0009t0037g0076 | 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 | a0001c0001t0038g0126 | 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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141 | 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 | a0013c0020t0041g0077 | 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 | a0001c0001t0001g0108a0001c0001t0011g0082a0001c0001t0042g0107others(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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0002t0006g0066a0001c0011t0017g0016a0001c0011t0031g0015others(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 | a0008c0027t0001g0105 | 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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0001c0021t0014g0046 | 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 | a0001c0021t0014g0046 | 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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0001t0001g0108a0001c0001t0002g0034a0001c0001t0002g0038others(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 | a0001c0001t0033g0078a0001c0003t0004g0053 | 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 | a0001c0009t0020g0017a0001c0009t0039g0018a0003c0007t0006g0154 | 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 | a0001c0006t0013g0009a0001c0006t0026g0010a0001c0008t0013g0002others(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 | a0001c0002t0006g0066a0001c0009t0037g0076a0003c0007t0006g0150others(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 | a0014c0028t0014g0141 | 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 | a0001c0001t0043g0148 | 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 | a0015c0029t0017g0144 | 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 | a0001c0001t0033g0078 | 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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141 | 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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141 | 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 | a0001c0001t0005g0140 | 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 | a0001c0003t0004g0049 | 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 | a0002c0004t0034g0103 | 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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0001c0021t0014g0046 | 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 | a0001c0002t0006g0066a0001c0011t0017g0016a0001c0011t0031g0015others(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 | a0001c0001t0001g0022a0001c0001t0005g0140a0001c0001t0043g0148others(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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0001t0022g0069a0001c0002t0022g0057a0001c0002t0040g0047others(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 | a0001c0009t0020g0017a0001c0009t0039g0018 | 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 | a0001c0001t0005g0140 | 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 | a0002c0004t0001g0081a0002c0004t0001g0090a0002c0004t0001g0094others(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 | a0001c0002t0006g0066a0003c0007t0006g0150 | 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 | a0018c0015t0044g0001 | 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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0001t0001g0109a0001c0001t0001g0110 | 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 | a0001c0001t0001g0147a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0001c0012t0020g0067a0001c0012t0049g0074 | 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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0021t0014g0046 | 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 | a0001c0001t0001g0037a0001c0001t0002g0034a0001c0001t0002g0038others(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 | a0001c0001t0001g0098a0001c0001t0018g0136 | 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 | a0001c0002t0002g0028a0001c0002t0022g0057a0001c0011t0031g0015others(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 | a0001c0001t0011g0082a0001c0009t0020g0017a0001c0009t0039g0018others(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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0018c0015t0044g0001 | 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 | a0001c0001t0001g0019a0001c0001t0001g0023a0001c0001t0001g0084others(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 | a0001c0001t0001g0037a0001c0001t0002g0034a0001c0001t0002g0038others(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 | a0001c0001t0001g0106a0001c0001t0007g0130a0001c0001t0007g0131others(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 | a0001c0001t0007g0129a0001c0001t0007g0138a0001c0006t0009g0004others(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 | a0001c0001t0012g0121a0001c0014t0012g0075 | 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 | a0001c0001t0001g0123a0001c0001t0001g0124a0001c0001t0036g0122 | 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 | a0001c0021t0014g0046 | 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 | a0002c0004t0001g0094a0002c0004t0001g0095 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141others(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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141 | 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 | a0001c0009t0037g0076 | 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 | a0018c0015t0044g0001 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0013c0020t0041g0077 | 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 | a0001c0001t0012g0119a0001c0001t0012g0121a0001c0014t0012g0075 | 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 | a0001c0003t0004g0048a0001c0003t0004g0049a0001c0003t0004g0050others(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 | a0001c0001t0005g0140 | 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 | a0001c0009t0037g0076 | 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 | a0001c0001t0001g0098a0001c0001t0001g0106a0001c0001t0001g0146others(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 | ||||||
| chr1:12376416
|
G | C | 153 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0022others(150): Show | 153 | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(150): Show |
intron_variant | MODIFIER | c.10918-2012G>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 55/69 | chr1 | 12376416 | ||||||
| chr1:12376448
|
C | A | 1 | a0001c0001t0018g0136 | 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 | a0001c0009t0020g0017a0001c0009t0039g0018 | 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 | 6 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0022others(3): Show | 6 | HG01433.hp1 HG01891.hp1 HG02486.hp1 others(3): 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 | a0001c0001t0003g0104 | 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 | a0001c0021t0014g0046 | 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 | a0001c0005t0005g0059 | 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 | a0013c0020t0041g0077 | 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 | a0001c0009t0037g0076 | 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 | a0001c0009t0037g0076 | 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 | a0001c0021t0014g0046 | 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 | a0001c0001t0001g0109a0001c0001t0001g0110 | 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 | 137 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0022others(134): Show | 137 | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(134): 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 | a0001c0013t0015g0065a0001c0013t0015g0073 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0002t0008g0025 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0021t0014g0046 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0033g0078 | 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 | a0013c0020t0041g0077 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0021t0014g0046 | 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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141 | 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 | a0005c0010t0019g0071 | 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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0033g0078 | 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 | a0001c0002t0001g0100a0001c0002t0003g0006a0001c0002t0003g0099others(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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0043g0148 | 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 | a0001c0001t0001g0022a0001c0001t0001g0023a0001c0001t0003g0101others(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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0006t0013g0009a0001c0006t0026g0010a0001c0008t0010g0011others(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 | a0001c0001t0001g0114a0001c0001t0001g0116a0001c0001t0002g0038others(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 | a0001c0001t0003g0092a0001c0001t0022g0069a0001c0002t0002g0039others(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 | a0001c0001t0002g0064a0001c0002t0002g0024a0001c0002t0040g0047others(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 | a0001c0001t0012g0119a0001c0003t0004g0053 | 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 | a0001c0001t0001g0098a0001c0001t0003g0104a0001c0001t0007g0129others(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 | a0001c0001t0003g0097a0002c0004t0001g0090a0012c0026t0035g0128 | 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 | a0001c0003t0004g0052a0007c0019t0001g0093 | 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 | a0001c0001t0001g0125a0001c0001t0001g0134a0001c0001t0011g0139others(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 | a0001c0001t0001g0085a0001c0001t0001g0109a0001c0001t0001g0110others(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 | a0001c0014t0012g0075a0003c0007t0006g0153 | 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 | a0014c0028t0014g0141 | 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 | a0001c0001t0005g0140a0003c0007t0006g0151 | 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 | a0003c0007t0006g0152 | 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 | 10 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0108others(7): Show | 10 | HG02300.hp1 HG02486.hp1 HG02698.hp2 others(7): 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 | a0001c0006t0025g0003 | 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 | a0001c0001t0001g0088a0001c0001t0001g0124a0001c0002t0003g0006others(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 | a0001c0001t0001g0037a0001c0001t0001g0123a0001c0001t0011g0082others(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 | a0001c0001t0033g0078 | 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 | a0001c0006t0025g0003 | 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 | a0001c0001t0001g0106a0001c0001t0001g0112a0001c0001t0001g0113 | 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 | a0004c0031t0029g0142 | 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 | 2 | a0001c0001t0001g0020a0001c0001t0011g0139 | 2 | NA18977.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.11191-996T>C | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | chr1 | 12381980 | ||||||
| chr1:12381980
|
TTC | T | 2 | a0001c0003t0023g0063a0001c0021t0014g0046 | 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 | a0001c0006t0013g0009a0001c0008t0010g0011a0001c0008t0010g0079others(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 | a0001c0001t0023g0032a0005c0010t0019g0070a0005c0010t0019g0071 | 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 | a0001c0021t0014g0046 | 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 | a0001c0001t0011g0139a0001c0006t0009g0013 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0011g0139a0001c0006t0009g0013 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0006t0013g0009a0001c0008t0010g0011a0001c0008t0010g0079others(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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141 | 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 | a0001c0009t0037g0076 | 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 | a0001c0001t0018g0136a0004c0030t0030g0143a0004c0031t0029g0142others(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 | a0001c0001t0027g0120a0001c0002t0006g0066a0001c0006t0009g0004others(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 | a0001c0021t0014g0046 | 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 | a0001c0001t0012g0119a0001c0001t0012g0121a0001c0014t0012g0075 | 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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0002t0022g0057 | 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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141 | 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 | a0001c0001t0001g0108a0001c0001t0042g0107 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0001g0123a0001c0001t0001g0124 | 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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0001c0001t0016g0091a0001c0002t0008g0014 | 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 | a0001c0009t0020g0017a0001c0009t0037g0076a0001c0009t0039g0018others(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 | a0001c0006t0013g0009 | 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 | a0001c0009t0020g0017a0001c0009t0037g0076a0001c0009t0039g0018others(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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141 | 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 | a0001c0021t0014g0046 | 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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0002t0003g0006 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0003t0023g0063 | 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 | a0001c0009t0020g0017a0001c0009t0037g0076a0001c0009t0039g0018others(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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0001c0021t0014g0046 | 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 | a0001c0009t0037g0076 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0009t0020g0017a0001c0009t0037g0076a0001c0009t0039g0018others(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 | a0001c0001t0022g0069a0001c0002t0022g0057a0001c0002t0040g0047 | 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 | a0001c0001t0005g0140 | 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 | a0018c0015t0044g0001 | 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 | a0001c0001t0001g0125a0001c0001t0011g0139 | 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 | a0001c0001t0001g0037a0001c0001t0002g0034a0001c0001t0002g0038others(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 | a0001c0006t0025g0003 | 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 | a0001c0001t0001g0125a0001c0001t0011g0139 | 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 | a0001c0001t0001g0037a0001c0001t0002g0034a0001c0001t0002g0038others(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 | a0001c0001t0001g0123a0001c0001t0001g0124a0001c0001t0036g0122 | 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 | a0001c0001t0022g0069a0001c0002t0022g0057a0001c0002t0040g0047 | 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 | a0017c0016t0046g0149 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0005t0005g0059a0001c0005t0005g0062a0001c0005t0011g0060 | 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 | a0001c0002t0047g0044 | 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 | a0018c0015t0044g0001 | 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 | a0001c0021t0014g0046 | 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 | 68 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0022others(65): Show | 68 | HG00408.hp2 HG00438.hp2 HG01099.hp2 others(65): 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 | a0001c0001t0001g0123a0001c0001t0001g0124a0001c0001t0036g0122 | 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 | a0001c0021t0014g0046 | 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 | a0001c0001t0001g0108a0001c0001t0042g0107 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0002g0064a0001c0001t0008g0027a0001c0002t0002g0024others(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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0023g0032 | 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 | a0001c0001t0005g0140 | 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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141 | 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 | a0001c0001t0007g0138 | 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 | a0001c0002t0006g0066a0001c0012t0020g0067a0001c0012t0049g0074 | 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 | a0001c0024t0003g0127 | 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 | a0001c0001t0001g0109a0001c0001t0001g0110 | 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 | a0001c0001t0001g0037a0001c0002t0002g0045 | 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 | a0001c0009t0020g0017a0001c0009t0037g0076a0001c0009t0039g0018others(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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0002t0047g0044 | 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 | a0003c0007t0006g0154 | 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 | a0013c0020t0041g0077 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0021t0014g0046 | 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 | a0010c0025t0009g0005 | 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 | a0001c0001t0001g0023a0001c0001t0001g0088a0001c0001t0001g0116others(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 | 10 | a0001c0001t0001g0020a0001c0001t0003g0097a0001c0001t0003g0104others(7): Show | 10 | HG00438.hp1 HG01071.hp2 HG01109.hp2 others(7): 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 | a0001c0013t0015g0073 | 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 | a0001c0013t0015g0065 | 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 | a0001c0001t0011g0082a0002c0004t0001g0081a0002c0004t0001g0095others(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 | a0001c0014t0012g0075a0002c0004t0001g0094a0007c0019t0001g0093 | 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 | a0001c0001t0001g0019a0001c0001t0007g0137a0001c0012t0020g0067others(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 | a0001c0001t0007g0130a0001c0001t0007g0131a0001c0001t0012g0119 | 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 | a0001c0002t0006g0066a0002c0004t0045g0118 | 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 | a0001c0001t0012g0121a0001c0001t0036g0122 | 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 | a0001c0008t0010g0012a0018c0015t0044g0001 | 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 | a0001c0001t0001g0123a0001c0001t0001g0124 | 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 | a0001c0008t0010g0012a0001c0009t0020g0017a0001c0009t0039g0018 | 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 | a0003c0007t0006g0150a0003c0007t0006g0152 | 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 | a0001c0008t0010g0079 | 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 | a0001c0003t0021g0056 | 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 | a0001c0003t0021g0055 | 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 | a0001c0001t0005g0140a0001c0005t0005g0059a0003c0007t0006g0151 | 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 | a0001c0001t0022g0069 | 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 | a0001c0002t0002g0045a0003c0007t0006g0154a0015c0029t0017g0144 | 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 | a0001c0008t0028g0008a0001c0009t0037g0076 | 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 | a0001c0002t0002g0039a0001c0002t0047g0044a0001c0003t0004g0050others(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 | a0001c0021t0014g0046 | 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 | a0001c0002t0022g0057a0001c0003t0004g0052 | 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 | a0010c0025t0009g0005a0013c0020t0041g0077 | 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 | a0003c0007t0006g0153 | 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 | a0001c0008t0010g0011 | 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 | a0001c0003t0004g0048a0001c0003t0004g0049 | 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 | a0001c0006t0009g0004 | 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 | a0001c0001t0002g0038a0001c0003t0004g0053a0004c0031t0029g0142 | 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 | a0001c0006t0009g0007a0001c0006t0009g0013 | 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 | a0001c0003t0001g0058a0001c0011t0017g0016a0004c0030t0030g0143others(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 | a0001c0001t0002g0034a0001c0005t0011g0060a0001c0011t0031g0015others(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 | a0001c0001t0002g0042a0001c0002t0002g0040a0001c0002t0002g0041others(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 | a0001c0002t0001g0089a0001c0005t0005g0062a0001c0005t0005g0068 | 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 | a0001c0006t0026g0010 | 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 | a0001c0002t0048g0031 | 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 | a0001c0008t0013g0002 | 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 | a0001c0001t0002g0043a0001c0001t0008g0027a0001c0002t0002g0028others(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 | a0001c0001t0027g0120a0001c0006t0013g0009 | 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 | a0001c0002t0002g0024a0001c0005t0018g0111 | 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 | a0001c0006t0025g0003 | 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 | a0001c0001t0002g0064a0001c0002t0002g0035a0001c0008t0010g0012others(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 | a0001c0013t0015g0065a0001c0013t0015g0073 | 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 | a0001c0009t0020g0017a0001c0009t0037g0076a0001c0009t0039g0018others(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 | 3 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0022 | 3 | HG01433.hp1 HG02486.hp1 homoSapiens_chm13v2.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 | a0002c0004t0001g0090a0002c0032t0001g0021 | 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 | a0001c0006t0009g0007 | 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 | a0001c0009t0037g0076 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0009t0020g0017a0001c0009t0039g0018 | 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 | a0001c0001t0001g0123a0001c0001t0001g0124 | 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 | a0001c0001t0002g0043a0001c0001t0002g0072 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0018c0015t0044g0001 | 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 | a0001c0009t0037g0076a0013c0020t0041g0077 | 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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0002c0004t0045g0118 | 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 | a0001c0001t0033g0078 | 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 | a0001c0001t0001g0084a0001c0001t0001g0114 | 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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141 | 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 | a0001c0024t0003g0127 | 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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141 | 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 | a0001c0006t0013g0009 | 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 | 22 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0022others(19): Show | 22 | HG01071.hp1 HG01099.hp1 HG01255.hp1 others(19): 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 | a0001c0001t0033g0078 | 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 | a0007c0019t0001g0093 | 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 | a0018c0015t0044g0001 | 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 | a0001c0001t0022g0069a0001c0002t0022g0057a0001c0002t0040g0047 | 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 | a0001c0008t0010g0011a0001c0008t0010g0012a0001c0008t0010g0079others(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 | a0001c0001t0001g0088a0001c0001t0001g0106a0001c0001t0001g0112others(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 | a0001c0003t0004g0048a0001c0003t0004g0049a0001c0005t0005g0059others(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 | a0001c0001t0002g0043a0001c0002t0002g0040a0001c0002t0002g0041others(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 | a0001c0001t0008g0027a0001c0002t0002g0028a0001c0003t0004g0053 | 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 | a0001c0001t0002g0064a0001c0002t0002g0045a0001c0002t0006g0066others(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 | a0001c0001t0002g0042a0001c0002t0002g0039 | 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 | a0001c0002t0002g0029a0001c0002t0048g0031 | 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 | a0001c0001t0002g0042a0001c0001t0002g0043a0001c0001t0002g0064others(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 | 12 | a0001c0001t0001g0020a0001c0001t0001g0023a0001c0001t0001g0087others(9): Show | 12 | HG00408.hp1 HG01255.hp1 HG01256.hp2 others(9): 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 | a0001c0001t0001g0022a0001c0002t0003g0099a0002c0004t0001g0090others(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 | a0001c0001t0001g0108a0001c0001t0002g0038 | 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 | a0001c0001t0001g0037a0001c0001t0002g0034a0001c0001t0042g0107others(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 | a0001c0001t0001g0085a0001c0001t0022g0069 | 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 | a0001c0001t0001g0019a0001c0001t0001g0098a0001c0001t0001g0123others(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 | a0001c0001t0001g0113a0001c0001t0033g0078a0002c0004t0034g0103 | 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 | 70 | a0001c0001t0001g0020a0001c0001t0001g0022a0001c0001t0001g0023others(67): Show | 70 | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(67): 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 | a0001c0001t0001g0117a0001c0001t0011g0082a0001c0006t0009g0004others(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 | a0001c0002t0003g0006a0001c0024t0003g0127 | 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 | a0001c0001t0027g0120a0001c0008t0013g0002 | 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 | a0001c0006t0013g0009a0001c0006t0025g0003 | 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 | a0001c0006t0026g0010 | 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 | a0001c0009t0020g0017 | 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 | a0013c0020t0041g0077 | 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 | a0001c0001t0007g0130a0001c0001t0007g0131a0001c0001t0007g0138others(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 | a0004c0030t0030g0143 | 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 | a0001c0009t0037g0076 | 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 | a0014c0028t0014g0141 | 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 | a0001c0021t0014g0046a0004c0031t0029g0142a0014c0028t0014g0141 | 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 | a0001c0021t0014g0046a0004c0030t0030g0143 | 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 | a0001c0021t0014g0046 | 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 | a0001c0021t0014g0046 | 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 | a0001c0002t0006g0066a0001c0012t0020g0067a0001c0012t0049g0074 | 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 | a0001c0012t0020g0067a0001c0012t0049g0074 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0003g0104 | 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 | a0001c0001t0001g0088a0001c0001t0001g0098a0001c0001t0001g0146others(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 | a0001c0002t0040g0047 | 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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0002t0002g0024a0001c0003t0004g0048a0001c0003t0004g0049others(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 | a0018c0015t0044g0001 | 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 | a0001c0009t0020g0017 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0001g0108a0001c0001t0042g0107 | 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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0001c0001t0001g0108a0001c0001t0042g0107 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0011t0017g0016a0003c0007t0006g0150a0003c0007t0006g0151others(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 | a0002c0004t0001g0090a0002c0032t0001g0021 | 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 | a0001c0021t0014g0046 | 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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0043others(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 | a0001c0001t0001g0146a0001c0001t0001g0147 | 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 | a0001c0005t0005g0062 | 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 | a0001c0003t0021g0055a0001c0003t0021g0056 | 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 | a0015c0029t0017g0144 | 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 | a0001c0008t0010g0011a0001c0008t0010g0012a0001c0008t0028g0008 | 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 | a0015c0029t0017g0144 | 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 | a0001c0002t0006g0066a0001c0011t0017g0016a0001c0012t0020g0067others(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 | a0001c0001t0011g0082 | 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 | a0013c0020t0041g0077 | 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 | a0003c0007t0006g0150a0003c0007t0006g0151a0003c0007t0006g0152others(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 | a0001c0011t0031g0015 | 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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0001c0009t0037g0076a0013c0020t0041g0077 | 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 | a0001c0009t0020g0017a0001c0009t0039g0018 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0021t0014g0046 | 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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0003c0007t0006g0150a0003c0007t0006g0151a0003c0007t0006g0152others(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 | a0001c0001t0001g0108a0001c0001t0042g0107 | 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 | a0001c0001t0001g0123a0001c0001t0001g0124 | 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 | a0001c0001t0012g0119a0001c0001t0012g0121a0001c0014t0012g0075 | 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 | a0003c0007t0006g0151a0003c0007t0006g0152a0003c0007t0006g0153 | 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 | a0007c0019t0001g0093a0013c0020t0041g0077 | 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 | a0001c0001t0003g0092a0001c0001t0003g0097a0001c0001t0003g0101 | 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 | 148 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0022others(145): Show | 148 | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(145): 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 | a0001c0001t0016g0145 | 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 | a0001c0005t0005g0059a0001c0005t0005g0062a0001c0005t0011g0060 | 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 | 133 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0022others(130): Show | 133 | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(130): 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 | a0001c0009t0020g0017a0001c0009t0037g0076a0001c0009t0039g0018others(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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0005g0140 | 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 | a0001c0001t0007g0130a0001c0001t0007g0131a0001c0001t0007g0138others(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 | a0001c0001t0011g0082 | 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 | a0001c0001t0001g0088a0001c0001t0001g0098a0001c0001t0001g0123others(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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0003g0101 | 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 | a0001c0009t0020g0017a0001c0009t0037g0076a0001c0009t0039g0018others(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 | a0001c0001t0001g0108a0001c0001t0011g0082a0001c0001t0042g0107 | 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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0015c0029t0017g0144 | 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 | a0001c0002t0006g0066a0001c0003t0021g0055a0001c0003t0021g0056others(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 | a0001c0001t0043g0148 | 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 | a0001c0001t0016g0091 | 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 | a0001c0001t0027g0120a0001c0002t0002g0035a0001c0006t0009g0004others(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 | a0001c0021t0014g0046 | 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 | a0001c0001t0012g0119a0001c0001t0012g0121a0001c0014t0012g0075 | 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 | a0001c0009t0020g0017a0001c0009t0037g0076a0001c0009t0039g0018others(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 | a0003c0007t0006g0154 | 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 | a0001c0003t0004g0048 | 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 | a0001c0003t0004g0049 | 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 | a0001c0003t0004g0050a0001c0003t0004g0051a0001c0003t0004g0052others(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 | a0001c0003t0004g0053 | 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 | a0001c0005t0018g0111 | 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 | a0004c0031t0029g0142 | 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 | a0001c0001t0012g0119a0001c0001t0012g0121a0001c0014t0012g0075 | 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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141 | 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 | a0001c0006t0025g0003 | 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 | a0001c0001t0023g0032a0001c0001t0027g0120a0001c0006t0009g0004others(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 | a0001c0001t0007g0138 | 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 | a0001c0024t0003g0127 | 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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141 | 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 | ||||||
| chr1:12417477
|
T | G | 1 | a0001c0001t0001g0020 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.12333+650T>G | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12417477 | ||||||
| chr1:12417699
|
G | A | 3 | a0001c0001t0022g0069a0001c0002t0022g0057a0001c0002t0040g0047 | 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 | a0001c0001t0023g0032a0001c0001t0027g0120a0001c0006t0009g0004others(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 | a0001c0009t0037g0076 | 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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0001c0009t0020g0017a0001c0009t0039g0018 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0003t0004g0050a0001c0003t0004g0051a0001c0003t0004g0052others(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 | a0001c0001t0002g0034a0001c0001t0002g0038a0009c0022t0002g0033 | 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 | a0001c0001t0001g0106a0001c0001t0001g0112a0001c0001t0001g0113 | 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 | a0001c0002t0003g0006 | 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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0001c0013t0015g0065a0001c0013t0015g0073 | 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 | a0001c0011t0017g0016a0003c0007t0006g0154 | 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 | a0001c0009t0039g0018 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0009t0020g0017 | 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 | a0001c0001t0001g0098a0001c0001t0001g0146a0001c0001t0001g0147others(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 | a0005c0010t0019g0070a0005c0010t0019g0071 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0003t0021g0055a0001c0003t0021g0056a0003c0007t0006g0151others(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 | a0001c0009t0020g0017a0001c0009t0039g0018 | 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 | a0001c0021t0014g0046a0004c0030t0030g0143a0004c0031t0029g0142others(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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0043g0148 | 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 | a0003c0007t0006g0150 | 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 | a0001c0021t0014g0046 | 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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0001c0002t0003g0099 | 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 | a0001c0001t0001g0113 | 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 | a0001c0001t0023g0032a0018c0015t0044g0001 | 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 | a0001c0001t0001g0106a0001c0001t0001g0112a0001c0001t0001g0113 | 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 | a0001c0001t0023g0032a0001c0001t0027g0120a0001c0006t0009g0004others(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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0001c0001t0003g0101a0001c0001t0027g0120a0001c0006t0009g0004others(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 | a0001c0002t0006g0066a0001c0021t0014g0046a0003c0007t0006g0150others(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 | 134 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0022others(131): Show | 134 | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(131): 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 | a0001c0001t0001g0098a0001c0001t0001g0146a0001c0001t0001g0147others(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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0001c0002t0008g0030a0001c0011t0031g0015a0001c0012t0020g0067others(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 | a0001c0001t0002g0043a0001c0001t0002g0072a0001c0002t0002g0045 | 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 | a0001c0003t0023g0063a0001c0005t0005g0059a0001c0005t0005g0062others(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 | a0001c0001t0011g0082a0001c0003t0001g0058a0001c0003t0004g0048others(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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0001c0001t0001g0037a0001c0001t0001g0117a0001c0001t0016g0091others(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 | a0001c0001t0043g0148a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0001t0003g0092a0001c0001t0003g0101a0004c0030t0030g0143others(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 | a0001c0021t0014g0046a0003c0007t0006g0150a0003c0007t0006g0151others(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 | a0001c0001t0032g0102 | 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 | a0006c0017t0001g0083 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0005t0005g0068 | 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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | ||||||
| chr1:12428736
|
G | T | 153 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0022others(150): Show | 153 | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(150): Show |
intron_variant | MODIFIER | c.12333+11909G>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12428736 | ||||||
| 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 | ||||||
| chr1:12429107
|
CT | C | 5 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0022others(2): Show | 5 | HG01433.hp1 HG01891.hp1 HG02486.hp1 others(2): Show |
intron_variant | MODIFIER | c.12333+12295delT | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | INFO_REALIGN_3_PRIME | chr1 | 12429107 | |||||
| chr1:12429290
|
C | CT | 6 | a0001c0002t0006g0066a0001c0021t0014g0046a0003c0007t0006g0150others(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 | a0001c0021t0014g0046 | 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 | a0006c0017t0001g0083 | 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 | a0001c0011t0031g0015 | 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 | a0001c0021t0014g0046 | 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 | a0008c0027t0001g0105 | 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 | a0001c0002t0006g0066a0001c0013t0015g0065a0001c0013t0015g0073others(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 | a0008c0027t0001g0105 | 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 | a0001c0001t0023g0032a0018c0015t0044g0001 | 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 | a0001c0001t0007g0138a0001c0001t0036g0122a0001c0002t0006g0066others(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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0001c0002t0006g0066a0001c0021t0014g0046a0003c0007t0006g0150others(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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0009t0037g0076 | 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 | a0001c0011t0031g0015 | 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 | a0013c0020t0041g0077 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0001g0022a0001c0001t0001g0037 | 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 | a0001c0002t0006g0066a0001c0021t0014g0046a0003c0007t0006g0150others(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 | a0001c0011t0017g0016a0003c0007t0006g0154a0015c0029t0017g0144others(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 | a0001c0001t0023g0032a0018c0015t0044g0001 | 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 | a0001c0011t0017g0016a0003c0007t0006g0154 | 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 | a0004c0031t0029g0142 | 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 | a0001c0021t0014g0046 | 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 | a0004c0030t0030g0143a0014c0028t0014g0141 | 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 | a0001c0008t0013g0002 | 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 | a0001c0001t0027g0120a0001c0008t0010g0011a0001c0008t0010g0012 | 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 | a0001c0006t0009g0007a0001c0006t0013g0009a0001c0008t0010g0079others(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 | a0001c0006t0009g0013a0001c0006t0025g0003 | 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 | a0001c0006t0026g0010 | 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 | a0001c0006t0009g0004 | 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 | a0010c0025t0009g0005 | 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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0001c0001t0036g0122 | 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 | a0013c0020t0041g0077 | 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 | a0001c0001t0001g0106a0001c0001t0001g0112a0001c0001t0001g0113others(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 | a0001c0001t0007g0129a0001c0021t0014g0046 | 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 | a0001c0001t0012g0119a0001c0001t0012g0121 | 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 | a0001c0001t0012g0119a0001c0001t0012g0121 | 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 | a0013c0020t0041g0077 | 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 | a0001c0001t0023g0032a0018c0015t0044g0001 | 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 | a0001c0008t0013g0002 | 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 | a0001c0001t0007g0130a0001c0001t0007g0131a0001c0001t0007g0138others(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 | a0001c0001t0011g0082 | 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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141 | 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 | a0001c0001t0027g0120a0001c0001t0036g0122a0001c0006t0009g0004others(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 | a0008c0027t0001g0105 | 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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0001c0021t0014g0046 | 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 | a0007c0019t0001g0093 | 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 | a0001c0005t0005g0068 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0036g0122 | 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 | a0001c0002t0006g0066a0001c0021t0014g0046a0003c0007t0006g0150others(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 | a0001c0003t0005g0061a0011c0023t0005g0036 | 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 | a0001c0001t0027g0120a0001c0001t0036g0122a0001c0006t0009g0004others(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 | a0013c0020t0041g0077 | 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 | a0001c0021t0014g0046 | 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 | a0013c0020t0041g0077 | 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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141 | 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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0001c0021t0014g0046 | 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 | a0008c0027t0001g0105 | 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 | a0001c0001t0001g0125a0001c0001t0011g0139 | 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 | a0001c0024t0003g0127 | 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 | a0001c0001t0001g0125a0001c0001t0011g0139 | 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 | a0001c0001t0022g0069a0001c0002t0022g0057a0001c0002t0040g0047 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0009t0037g0076 | 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 | a0001c0006t0009g0004 | 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 | a0001c0001t0023g0032a0018c0015t0044g0001 | 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 | a0001c0001t0023g0032a0018c0015t0044g0001 | 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 | a0001c0001t0002g0034a0001c0001t0002g0038a0009c0022t0002g0033 | 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 | a0001c0009t0020g0017a0001c0009t0039g0018 | 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 | a0001c0001t0036g0122 | 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 | a0015c0029t0017g0144 | 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 | a0001c0001t0001g0124a0001c0001t0011g0082a0001c0001t0022g0069others(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 | a0001c0001t0033g0078a0001c0002t0022g0057a0004c0030t0030g0143others(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 | a0001c0002t0047g0044 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0009t0020g0017a0001c0009t0039g0018 | 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 | a0001c0001t0001g0112 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0009t0020g0017a0001c0009t0039g0018 | 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 | a0003c0007t0006g0150 | 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 | a0001c0009t0037g0076 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0023g0032a0018c0015t0044g0001 | 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 | a0001c0001t0001g0108a0001c0012t0020g0067a0001c0012t0049g0074 | 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 | a0001c0001t0042g0107a0001c0011t0031g0015 | 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 | a0001c0003t0004g0049 | 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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0001c0011t0017g0016a0003c0007t0006g0154a0015c0029t0017g0144others(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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0001c0009t0020g0017a0001c0009t0039g0018 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0001g0088a0001c0001t0001g0098a0001c0001t0001g0146others(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 | a0001c0005t0005g0068 | 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 | a0001c0003t0004g0050 | 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 | a0015c0029t0017g0144 | 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 | a0001c0002t0001g0100a0001c0002t0003g0099 | 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 | a0001c0001t0007g0129a0001c0001t0007g0130a0001c0001t0007g0131others(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 | a0001c0001t0033g0078 | 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 | a0001c0006t0026g0010 | 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 | a0001c0001t0003g0104 | 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 | a0001c0001t0016g0091 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0009t0039g0018 | 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 | a0001c0002t0001g0100a0001c0002t0003g0006a0001c0002t0003g0099others(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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0008c0027t0001g0105 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0022g0069a0001c0002t0022g0057 | 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 | a0001c0021t0014g0046a0003c0007t0006g0150a0003c0007t0006g0151others(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 | 4 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0022others(1): Show | 4 | HG01433.hp1 HG01891.hp1 HG02486.hp1 others(1): Show |
intron_variant | MODIFIER | c.12334-463C>T | VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | chr1 | 12455535 | ||||||
| chr1:12455570
|
CA | C | 17 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141 | 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 | a0001c0005t0005g0068 | 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 | a0001c0021t0014g0046 | 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 | a0001c0006t0009g0007 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | 75 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0023others(72): Show | 75 | HG00408.hp1 HG00438.hp1 HG01071.hp2 others(72): 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 | a0001c0001t0001g0109a0001c0001t0002g0034a0001c0001t0002g0042others(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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141 | 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 | a0002c0004t0001g0094a0002c0004t0001g0095a0013c0020t0041g0077 | 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 | a0001c0001t0001g0146a0001c0001t0001g0147 | 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 | a0015c0029t0017g0144 | 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 | a0001c0001t0012g0119a0001c0001t0012g0121a0001c0014t0012g0075 | 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 | a0001c0001t0007g0138 | 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 | a0013c0020t0041g0077 | 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 | a0001c0003t0023g0063 | 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 | a0001c0001t0008g0027a0001c0002t0002g0024a0001c0002t0002g0028others(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 | a0001c0001t0022g0069a0001c0002t0022g0057a0001c0002t0040g0047 | 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 | a0001c0006t0013g0009 | 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 | a0001c0002t0006g0066a0001c0012t0049g0074 | 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 | a0001c0003t0004g0050a0001c0003t0004g0051a0001c0003t0004g0052others(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 | a0001c0001t0023g0032a0018c0015t0044g0001 | 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 | a0001c0002t0008g0025 | 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 | a0001c0001t0003g0092a0001c0001t0003g0097a0001c0001t0003g0101 | 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 | a0001c0001t0002g0064a0002c0004t0001g0094a0002c0004t0001g0095others(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 | a0001c0002t0006g0066a0001c0021t0014g0046a0003c0007t0006g0150others(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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0003t0021g0055a0001c0003t0021g0056a0001c0005t0005g0068 | 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 | a0001c0001t0011g0082 | 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 | a0001c0002t0047g0044 | 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 | a0001c0001t0018g0136 | 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 | a0001c0001t0001g0108a0001c0001t0001g0123a0001c0001t0003g0092others(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 | a0001c0001t0001g0086a0001c0001t0001g0113a0001c0001t0042g0107others(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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0001c0001t0001g0123a0001c0001t0001g0124a0001c0001t0036g0122 | 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 | a0001c0001t0042g0107a0001c0011t0031g0015 | 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 | a0001c0002t0006g0066a0001c0021t0014g0046a0003c0007t0006g0150others(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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141 | 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 | a0001c0001t0007g0137 | 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 | a0013c0020t0041g0077 | 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 | a0002c0004t0034g0103 | 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 | a0001c0001t0023g0032a0018c0015t0044g0001 | 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 | a0001c0002t0006g0066a0001c0021t0014g0046a0003c0007t0006g0150others(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 | a0001c0001t0023g0032a0001c0001t0027g0120a0001c0002t0006g0066others(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 | a0001c0002t0040g0047 | 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 | a0001c0001t0001g0098a0001c0001t0001g0146a0001c0001t0001g0147others(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 | a0001c0003t0004g0048 | 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 | a0001c0001t0022g0069a0001c0002t0022g0057a0001c0002t0040g0047 | 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 | a0001c0003t0023g0063 | 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 | a0001c0011t0017g0016a0001c0013t0015g0065a0001c0013t0015g0073others(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 | a0001c0008t0010g0011 | 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 | a0001c0001t0001g0109a0001c0001t0001g0110 | 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 | a0002c0004t0034g0103 | 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 | a0002c0004t0034g0103 | 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 | a0002c0004t0034g0103 | 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 | a0001c0021t0014g0046 | 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 | a0001c0002t0048g0031 | 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 | a0002c0004t0001g0081a0002c0004t0001g0090a0002c0004t0001g0094others(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 | a0001c0001t0008g0027a0001c0002t0008g0014a0001c0002t0008g0030 | 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 | a0001c0012t0020g0067 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0003t0004g0049 | 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 | a0001c0001t0022g0069a0001c0002t0022g0057a0001c0002t0040g0047 | 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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141 | 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 | a0001c0003t0005g0061a0001c0005t0005g0059a0001c0005t0005g0062others(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 | a0013c0020t0041g0077 | 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 | a0001c0001t0023g0032a0001c0001t0027g0120a0001c0006t0009g0004others(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 | a0001c0009t0039g0018 | 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 | a0005c0010t0019g0071 | 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 | a0013c0020t0041g0077 | 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 | a0013c0020t0041g0077 | 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 | a0013c0020t0041g0077 | 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 | a0013c0020t0041g0077 | 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 | 133 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0022others(130): Show | 133 | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(130): 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 | a0001c0003t0024g0054 | 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 | a0001c0001t0003g0092 | 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 | a0001c0001t0038g0126 | 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 | a0002c0004t0001g0094a0002c0004t0001g0095 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0042g0107a0001c0002t0006g0066a0001c0011t0017g0016others(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 | a0002c0004t0045g0118 | 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 | a0001c0002t0006g0066a0001c0012t0020g0067a0001c0021t0014g0046others(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 | a0001c0001t0001g0123a0002c0004t0001g0094a0002c0004t0001g0095 | 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 | a0001c0005t0001g0132a0001c0005t0018g0111 | 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 | a0001c0009t0037g0076 | 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 | a0001c0001t0005g0140 | 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 | a0001c0001t0043g0148a0001c0002t0006g0066a0001c0012t0049g0074 | 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 | a0014c0028t0014g0141 | 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 | a0001c0009t0039g0018 | 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 | a0013c0020t0041g0077 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0042g0107a0001c0011t0031g0015 | 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 | a0001c0001t0022g0069a0001c0002t0022g0057a0001c0002t0040g0047 | 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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0001c0003t0023g0063 | 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 | a0001c0001t0027g0120a0001c0001t0036g0122a0001c0006t0009g0004others(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 | a0008c0027t0001g0105 | 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 | a0001c0002t0006g0066 | 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 | a0002c0004t0034g0103 | 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 | a0001c0001t0043g0148a0001c0002t0006g0066a0001c0012t0049g0074others(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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0012g0119a0001c0001t0012g0121a0001c0014t0012g0075 | 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 | a0001c0001t0001g0098a0001c0013t0015g0065 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0021t0014g0046 | 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 | a0001c0006t0009g0004a0001c0006t0009g0007a0001c0006t0009g0013others(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 | a0001c0011t0017g0016a0003c0007t0006g0154a0015c0029t0017g0144others(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 | a0001c0001t0043g0148a0001c0002t0006g0066a0001c0012t0049g0074 | 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 | a0002c0004t0034g0103 | 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 | a0001c0001t0011g0139 | 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 | a0013c0020t0041g0077 | 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 | a0001c0001t0042g0107a0001c0011t0031g0015 | 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 | a0001c0001t0036g0122 | 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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0036g0122 | 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 | a0001c0003t0024g0054 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0002g0042a0001c0002t0002g0040a0001c0002t0002g0041 | 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 | a0001c0005t0005g0068 | 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 | a0001c0001t0003g0092a0001c0001t0003g0097a0001c0001t0003g0101 | 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 | a0001c0001t0007g0130 | 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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0002t0040g0047 | 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 | a0001c0001t0023g0032a0001c0001t0027g0120a0001c0006t0009g0004others(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 | a0001c0001t0012g0119a0001c0001t0012g0121a0001c0014t0012g0075 | 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 | a0001c0009t0037g0076 | 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 | a0001c0011t0017g0016a0003c0007t0006g0154 | 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 | a0001c0011t0017g0016a0003c0007t0006g0154 | 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 | a0001c0001t0043g0148a0001c0002t0006g0066a0001c0012t0049g0074 | 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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0017c0016t0046g0149 | 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 | a0001c0003t0023g0063 | 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 | a0001c0005t0001g0132a0001c0005t0018g0111 | 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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141 | 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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141 | 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 | a0001c0001t0033g0078 | 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 | a0001c0011t0017g0016a0003c0007t0006g0154a0015c0029t0017g0144others(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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141 | 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 | a0001c0002t0001g0100a0001c0002t0003g0006a0001c0002t0003g0099others(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 | a0003c0007t0006g0151a0003c0007t0006g0152a0003c0007t0006g0153 | 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 | a0001c0021t0014g0046a0003c0007t0006g0150a0003c0007t0006g0151others(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 | a0013c0020t0041g0077 | 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 | a0001c0002t0022g0057 | 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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0001c0009t0037g0076 | 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 | a0001c0002t0003g0006a0001c0024t0003g0127 | 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 | a0001c0001t0027g0120a0001c0001t0036g0122a0001c0006t0009g0004others(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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0001c0001t0016g0145 | 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 | a0001c0001t0023g0032a0018c0015t0044g0001 | 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 | a0004c0031t0029g0142 | 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 | a0001c0001t0036g0122 | 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 | a0001c0021t0014g0046 | 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 | a0001c0001t0018g0136 | 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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141 | 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 | a0001c0001t0008g0027a0001c0002t0002g0024a0001c0002t0002g0028others(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 | a0001c0001t0001g0116a0001c0001t0002g0072a0001c0001t0027g0120others(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 | a0001c0001t0002g0042a0001c0001t0002g0043a0001c0001t0002g0064others(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 | a0001c0001t0002g0034a0001c0001t0002g0038a0009c0022t0002g0033 | 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 | a0001c0001t0001g0037a0002c0004t0001g0081 | 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 | a0001c0001t0033g0078 | 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 | a0001c0001t0005g0140 | 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 | a0001c0003t0023g0063 | 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 | a0001c0001t0036g0122 | 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 | a0018c0015t0044g0001 | 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 | a0001c0001t0022g0069a0001c0002t0022g0057a0001c0002t0040g0047 | 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 | a0001c0001t0023g0032a0018c0015t0044g0001 | 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 | a0005c0010t0019g0071 | 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 | a0001c0001t0001g0125a0001c0001t0011g0139 | 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 | a0001c0001t0001g0125a0001c0001t0011g0139 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0043g0148a0001c0012t0049g0074 | 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 | a0001c0001t0043g0148a0001c0002t0006g0066a0001c0012t0049g0074 | 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 | a0013c0020t0041g0077 | 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 | a0001c0021t0014g0046 | 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 | a0001c0009t0039g0018 | 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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141 | 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 | a0013c0020t0041g0077 | 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 | a0001c0009t0037g0076 | 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 | a0001c0001t0036g0122 | 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 | a0001c0001t0036g0122 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0002c0004t0001g0081a0002c0004t0001g0090a0002c0004t0001g0094others(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 | a0013c0020t0041g0077 | 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 | a0001c0001t0027g0120a0001c0001t0036g0122a0001c0006t0009g0004others(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 | a0001c0021t0014g0046 | 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 | 132 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0022others(129): Show | 132 | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(129): 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0005g0140 | 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 | a0001c0001t0027g0120a0001c0002t0006g0066a0001c0006t0009g0004others(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 | a0001c0001t0002g0034a0001c0001t0023g0032a0001c0002t0047g0044others(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 | a0001c0001t0027g0120a0001c0002t0006g0066a0001c0006t0009g0004others(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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141 | 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 | a0001c0001t0042g0107 | 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 | a0001c0001t0023g0032a0001c0001t0027g0120a0001c0002t0006g0066others(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 | a0001c0009t0039g0018 | 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 | a0001c0005t0005g0059 | 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 | a0001c0001t0022g0069a0001c0002t0022g0057a0001c0002t0040g0047 | 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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0001c0001t0001g0146a0001c0001t0003g0092 | 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 | a0001c0002t0006g0066a0001c0021t0014g0046a0003c0007t0006g0150others(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 | 123 | a0001c0001t0001g0020a0001c0001t0001g0022a0001c0001t0001g0023others(120): Show | 123 | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(120): 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 | a0001c0011t0017g0016a0003c0007t0006g0154a0015c0029t0017g0144others(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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0003c0007t0006g0152 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0009t0020g0017 | 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 | a0001c0002t0003g0006a0001c0024t0003g0127 | 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 | a0001c0001t0001g0112 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0021t0014g0046 | 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 | a0001c0009t0037g0076 | 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 | a0001c0001t0042g0107a0001c0011t0031g0015 | 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 | a0013c0020t0041g0077 | 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 | a0001c0009t0039g0018 | 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 | a0007c0019t0001g0093 | 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 | a0001c0001t0036g0122 | 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 | a0001c0001t0036g0122 | 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 | a0001c0011t0017g0016a0003c0007t0006g0150a0003c0007t0006g0151others(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 | a0001c0001t0027g0120a0001c0001t0036g0122a0001c0006t0009g0004others(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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0001g0123a0001c0001t0001g0124 | 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 | a0001c0001t0016g0091 | 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 | a0001c0001t0001g0116a0001c0001t0001g0117 | 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 | a0001c0005t0011g0060 | 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 | a0001c0001t0001g0112 | 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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141 | 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 | a0001c0003t0004g0049 | 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 | a0013c0020t0041g0077 | 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 | a0001c0001t0023g0032a0018c0015t0044g0001 | 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 | a0002c0004t0001g0081a0002c0004t0001g0096 | 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 | a0001c0001t0001g0110a0001c0001t0002g0043a0001c0001t0002g0064others(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 | a0001c0003t0023g0063 | 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 | a0001c0001t0023g0032a0018c0015t0044g0001 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0021t0014g0046 | 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 | a0001c0001t0001g0085a0001c0001t0027g0120a0001c0006t0009g0004others(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 | a0001c0001t0023g0032a0018c0015t0044g0001 | 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 | a0001c0001t0043g0148a0001c0012t0049g0074 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0023g0032a0018c0015t0044g0001 | 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 | a0001c0002t0040g0047 | 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 | a0001c0008t0013g0002 | 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 | a0001c0009t0039g0018 | 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 | a0001c0001t0043g0148a0001c0012t0049g0074 | 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 | a0001c0009t0039g0018 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0003g0104 | 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 | a0001c0001t0027g0120a0001c0001t0036g0122a0001c0006t0009g0004others(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 | a0001c0001t0023g0032a0001c0001t0027g0120a0001c0001t0036g0122others(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 | a0007c0019t0001g0093a0014c0028t0014g0141 | 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 | a0001c0009t0037g0076a0013c0020t0041g0077 | 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 | a0001c0001t0001g0098a0001c0021t0014g0046 | 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 | a0001c0009t0039g0018 | 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 | a0001c0001t0023g0032a0018c0015t0044g0001 | 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 | a0001c0001t0022g0069a0001c0002t0022g0057a0001c0002t0040g0047 | 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 | a0001c0021t0014g0046 | 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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141 | 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 | a0001c0003t0021g0056 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0003t0021g0055a0001c0003t0021g0056 | 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 | a0001c0009t0039g0018 | 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 | a0001c0001t0023g0032a0018c0015t0044g0001 | 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 | a0001c0001t0005g0140a0001c0001t0011g0082 | 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 | a0001c0006t0009g0013 | 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 | a0001c0005t0005g0059a0001c0005t0005g0062a0001c0005t0011g0060 | 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 | a0001c0002t0047g0044 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0001g0146a0001c0001t0001g0147 | 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 | a0001c0003t0005g0061 | 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 | a0001c0001t0027g0120a0001c0001t0036g0122a0001c0006t0009g0004others(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 | a0013c0020t0041g0077 | 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 | a0001c0001t0022g0069a0001c0002t0022g0057a0001c0002t0040g0047 | 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 | a0001c0009t0039g0018 | 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 | a0001c0001t0001g0086a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0001c0001t0027g0120a0001c0002t0003g0006a0001c0006t0009g0004others(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 | a0001c0001t0042g0107a0001c0002t0006g0066a0001c0011t0017g0016others(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 | a0003c0007t0006g0154 | 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 | a0001c0021t0014g0046a0004c0030t0030g0143a0004c0031t0029g0142others(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 | a0001c0001t0023g0032a0001c0003t0023g0063a0018c0015t0044g0001 | 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 | a0001c0012t0020g0067 | 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 | a0001c0009t0039g0018a0013c0020t0041g0077 | 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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0001c0009t0039g0018 | 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 | a0001c0001t0027g0120a0001c0001t0036g0122a0001c0006t0009g0004others(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 | a0001c0011t0017g0016a0003c0007t0006g0154 | 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 | a0001c0001t0003g0092a0001c0001t0003g0097a0001c0001t0003g0101 | 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 | a0001c0001t0042g0107a0001c0002t0006g0066a0001c0011t0017g0016others(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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0002t0001g0100a0001c0002t0003g0006a0001c0002t0003g0099others(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 | a0001c0002t0001g0100a0001c0002t0003g0006a0001c0002t0003g0099others(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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0004c0030t0030g0143a0004c0031t0029g0142a0014c0028t0014g0141 | 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 | a0001c0021t0014g0046a0004c0030t0030g0143a0004c0031t0029g0142others(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 | a0001c0001t0033g0078 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0017c0016t0046g0149 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0011g0082 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0022g0069a0001c0002t0022g0057a0001c0002t0040g0047 | 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 | a0001c0001t0003g0092a0001c0001t0003g0097a0001c0001t0003g0101 | 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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0001c0002t0001g0100a0001c0002t0003g0099 | 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 | a0001c0001t0023g0032a0018c0015t0044g0001 | 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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0003t0023g0063 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0001g0019a0001c0001t0001g0023a0001c0001t0001g0108others(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 | a0001c0001t0001g0086a0001c0001t0003g0101a0001c0001t0022g0069others(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 | a0001c0001t0005g0140a0001c0001t0011g0082a0001c0001t0011g0139others(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 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0042others(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 | a0001c0001t0022g0069a0001c0002t0022g0057a0001c0002t0040g0047 | 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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 | a0001c0001t0022g0069a0001c0002t0022g0057a0001c0002t0040g0047 | 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 | a0001c0001t0007g0129a0001c0001t0043g0148a0001c0009t0039g0018others(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 | a0001c0001t0027g0120a0001c0006t0009g0004a0001c0006t0009g0007others(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 |