Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| geneid | 8546 |
|---|---|
| ensemblid | ENSG00000132842.15 |
| hgncid | 566 |
| symbol | AP3B1 |
| name | adaptor related protein complex 3 subunit beta 1 |
| refseq_nuc | NM_003664.5 |
| refseq_prot | NP_003655.3 |
| ensembl_nuc | ENST00000255194.11 |
| ensembl_prot | ENSP00000255194.7 |
| mane_status | MANE Select |
| chr | chr5 |
| start | 78002326 |
| end | 78294698 |
| strand | - |
| ver | v1.2 |
| region | chr5:78002326-78294698 |
| region5000 | chr5:77997326-78299698 |
| regionname0 | AP3B1_chr5_78002326_78294698 |
| regionname5000 | AP3B1_chr5_77997326_78299698 |
| ahapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/1 | 1094 | 171 | 42 | 42 | 59 | 7 | 20 | 47 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| a0002 | 1/0 | 1094 | 37 | 3 | 2 | 24 | 1 | 6 | 16 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| a0003 | 0/0 | 1093 | 12 | 12 | 0 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| a0004 | 0/0 | 1094 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| a0005 | 0/0 | 1094 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| a0006 | 0/0 | 1094 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| a0007 | 0/0 | 1094 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| a0008 | 0/0 | 1094 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| a0009 | 0/0 | 1094 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| 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 | 3285 | 99 | 21 | 25 | 35 | 3 | 14 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| c0002 | 0/0 | 3285 | 42 | 0 | 12 | 23 | 2 | 5 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| c0003 | 1/0 | 3285 | 37 | 3 | 2 | 24 | 1 | 6 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| c0004 | 0/0 | 3285 | 12 | 11 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| c0005 | 0/0 | 3285 | 9 | 8 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| c0006 | 0/0 | 3285 | 7 | 1 | 3 | 0 | 2 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| c0007 | 0/0 | 3282 | 6 | 6 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| c0008 | 0/0 | 3282 | 4 | 4 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| c0009 | 0/0 | 3282 | 2 | 2 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| c0010 | 0/0 | 3285 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| c0011 | 0/0 | 3285 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| c0012 | 0/0 | 3285 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| c0013 | 0/0 | 3285 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| c0014 | 0/0 | 3285 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| c0015 | 0/0 | 3285 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| c0016 | 0/0 | 3285 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| c0017 | 0/0 | 3285 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| 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 | 696 | 121 | 27 | 24 | 43 | 6 | 19 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| t0002 | 0/0 | 696 | 103 | 33 | 20 | 41 | 2 | 7 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| t0003 | 0/0 | 696 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| t0004 | 0/0 | 696 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| 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 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0009 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0010 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0011 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0013 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0029 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0034 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0042 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0043 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0049 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0055 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0059 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0062 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0070 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0080 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0096 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0098 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0101 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0102 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0103 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0104 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0105 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0107 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0108 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0109 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0110 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0111 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0113 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0114 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0116 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0117 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0118 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0119 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0120 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0121 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0122 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0123 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0124 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0125 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0126 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0128 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0129 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0130 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0131 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0138 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0139 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0142 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0144 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0145 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0147 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0148 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0152 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0153 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0156 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0157 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0159 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0161 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0163 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0164 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0165 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0166 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0167 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0168 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0171 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0173 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0174 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0175 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0176 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0177 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0178 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0179 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0185 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0186 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0187 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0188 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0189 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0190 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0191 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0192 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0198 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0200 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0201 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0202 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0203 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0204 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0205 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0206 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0212 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0213 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0214 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0216 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0217 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0218 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0219 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0220 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0221 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0223 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0224 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0225 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| g0226 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| 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 | 3285 | 99 | 21 | 25 | 35 | 3 | 14 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| a0001c0002 | 0/0 | 3285 | 42 | 0 | 12 | 23 | 2 | 5 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| a0001c0004 | 0/0 | 3285 | 12 | 11 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| a0001c0005 | 0/0 | 3285 | 9 | 8 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| a0001c0006 | 0/0 | 3285 | 7 | 1 | 3 | 0 | 2 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| a0001c0010 | 0/0 | 3285 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| a0001c0012 | 0/0 | 3285 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| a0002c0003 | 1/0 | 3285 | 37 | 3 | 2 | 24 | 1 | 6 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| a0003c0007 | 0/0 | 3282 | 6 | 6 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| a0003c0008 | 0/0 | 3282 | 4 | 4 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| a0003c0009 | 0/0 | 3282 | 2 | 2 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| a0004c0017 | 0/0 | 3285 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| a0005c0015 | 0/0 | 3285 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| a0006c0013 | 0/0 | 3285 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| a0007c0014 | 0/0 | 3285 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| a0008c0011 | 0/0 | 3285 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| a0009c0016 | 0/0 | 3285 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/1 | 3980 | 65 | 18 | 16 | 15 | 3 | 12 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| a0001c0001t0002 | 0/0 | 3980 | 32 | 3 | 7 | 20 | 0 | 2 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| a0001c0001t0003 | 0/0 | 3980 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| a0001c0001t0004 | 0/0 | 3980 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| a0001c0002t0001 | 0/0 | 3980 | 7 | 0 | 2 | 5 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| a0001c0002t0002 | 0/0 | 3980 | 35 | 0 | 10 | 18 | 2 | 5 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| a0001c0004t0001 | 0/0 | 3980 | 3 | 3 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| a0001c0004t0002 | 0/0 | 3980 | 9 | 8 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| a0001c0005t0001 | 0/0 | 3980 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| a0001c0005t0002 | 0/0 | 3980 | 8 | 7 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| a0001c0006t0001 | 0/0 | 3980 | 7 | 1 | 3 | 0 | 2 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| a0001c0010t0002 | 0/0 | 3980 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| a0001c0012t0001 | 0/0 | 3980 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| a0002c0003t0001 | 1/0 | 3980 | 35 | 3 | 2 | 22 | 1 | 6 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| a0002c0003t0002 | 0/0 | 3980 | 2 | 0 | 0 | 2 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| a0003c0007t0002 | 0/0 | 3977 | 6 | 6 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| a0003c0008t0002 | 0/0 | 3977 | 4 | 4 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| a0003c0009t0002 | 0/0 | 3977 | 2 | 2 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| a0004c0017t0002 | 0/0 | 3980 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| a0005c0015t0001 | 0/0 | 3980 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| a0006c0013t0002 | 0/0 | 3980 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| a0007c0014t0002 | 0/0 | 3980 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| a0008c0011t0002 | 0/0 | 3980 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| a0009c0016t0001 | 0/0 | 3980 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | copy fasta | chr5 | 77997326 | 78299698 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0009 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0013 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0029 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0042 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0096 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0098 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0101 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0102 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0103 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0104 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0107 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0108 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0109 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0110 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0111 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0116 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0122 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0126 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0128 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0144 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0145 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0147 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0161 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0167 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0173 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0198 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0200 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0201 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0202 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0203 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0204 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0205 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0206 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0212 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0213 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0214 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0216 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0217 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0220 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0221 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0224 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0001g0225 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0002g0011 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0002g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0002g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0002g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0002g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0002g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0002g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0002g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0002g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0002g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0002g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0002g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0002g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0002g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0002g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0002g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0002g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0002g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0002g0034 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0002g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0002g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0002g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0002g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0002g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0002g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0002g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0002g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0002g0117 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0002g0118 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0002g0119 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0002g0123 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0002g0159 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0003g0121 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0001t0004g0129 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0002t0001g0138 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0002t0001g0139 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0002t0001g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0002t0001g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0002t0001g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0002t0001g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0002t0001g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0002t0002g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0002t0002g0130 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0002t0002g0131 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0002t0002g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0002t0002g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0002t0002g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0002t0002g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0002t0002g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0002t0002g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0002t0002g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0002t0002g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0002t0002g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0002t0002g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0002t0002g0152 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0002t0002g0153 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0002t0002g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0002t0002g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0002t0002g0156 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0002t0002g0157 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0002t0002g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0002t0002g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0002t0002g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0002t0002g0164 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0002t0002g0166 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0002t0002g0168 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0002t0002g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0002t0002g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0002t0002g0171 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0002t0002g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0002t0002g0174 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0002t0002g0175 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0002t0002g0176 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0002t0002g0177 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0002t0002g0178 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0002t0002g0179 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0004t0001g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0004t0001g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0004t0001g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0004t0002g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0004t0002g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0004t0002g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0004t0002g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0004t0002g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0004t0002g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0004t0002g0185 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0004t0002g0186 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0004t0002g0226 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0005t0001g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0005t0002g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0005t0002g0187 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0005t0002g0188 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0005t0002g0189 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0005t0002g0190 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0005t0002g0191 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0005t0002g0192 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0005t0002g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0006t0001g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0006t0001g0113 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0006t0001g0114 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0006t0001g0120 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0006t0001g0124 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0006t0001g0125 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0006t0001g0223 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0010t0002g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0001c0012t0001g0142 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0002c0003t0001g0010 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0002c0003t0001g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0002c0003t0001g0043 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0002c0003t0001g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0002c0003t0001g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0002c0003t0001g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0002c0003t0001g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0002c0003t0001g0049 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0002c0003t0001g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0002c0003t0001g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0002c0003t0001g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0002c0003t0001g0055 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0002c0003t0001g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0002c0003t0001g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0002c0003t0001g0059 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0002c0003t0001g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0002c0003t0001g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0002c0003t0001g0062 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0002c0003t0001g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0002c0003t0001g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0002c0003t0001g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0002c0003t0001g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0002c0003t0001g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0002c0003t0001g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0002c0003t0001g0070 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0002c0003t0001g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0002c0003t0001g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0002c0003t0001g0080 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0002c0003t0001g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0002c0003t0001g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0002c0003t0001g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0002c0003t0001g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0002c0003t0001g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0002c0003t0001g0218 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0002c0003t0001g0219 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0002c0003t0002g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0002c0003t0002g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0003c0007t0002g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0003c0007t0002g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0003c0007t0002g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0003c0007t0002g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0003c0007t0002g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0003c0007t0002g0148 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0003c0008t0002g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0003c0008t0002g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0003c0008t0002g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0003c0008t0002g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0003c0009t0002g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0003c0009t0002g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0004c0017t0002g0163 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0005c0015t0001g0105 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0006c0013t0002g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0007c0014t0002g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0008c0011t0002g0165 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| a0009c0016t0001g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0006 | t0001 | g0125 | EUR | GBR | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG00099 | hp2 | a0001 | c0001 | t0001 | g0102 | EUR | GBR | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG00280 | hp1 | a0002 | c0003 | t0001 | g0059 | EUR | FIN | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG00280 | hp2 | a0001 | c0002 | t0002 | g0178 | EUR | FIN | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG00408 | hp1 | a0002 | c0003 | t0002 | g0031 | EAS | CHS | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG00408 | hp2 | a0002 | c0003 | t0001 | g0057 | EAS | CHS | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG00558 | hp1 | a0001 | c0001 | t0001 | g0217 | EAS | CHS | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG00558 | hp2 | a0001 | c0001 | t0002 | g0097 | EAS | CHS | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG00597 | hp1 | a0002 | c0003 | t0001 | g0088 | EAS | CHS | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG00597 | hp2 | a0001 | c0002 | t0001 | g0182 | EAS | CHS | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG00639 | hp1 | a0001 | c0002 | t0001 | g0138 | AMR | PUR | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG00639 | hp2 | a0001 | c0001 | t0001 | g0103 | AMR | PUR | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG00642 | hp1 | a0001 | c0001 | t0001 | g0200 | AMR | PUR | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG00642 | hp2 | a0001 | c0004 | t0002 | g0185 | AMR | PUR | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG00735 | hp1 | a0001 | c0002 | t0002 | g0171 | AMR | PUR | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG00735 | hp2 | a0001 | c0001 | t0001 | g0126 | AMR | PUR | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG00741 | hp1 | a0001 | c0001 | t0001 | g0009 | AMR | PUR | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG00741 | hp2 | a0001 | c0002 | t0002 | g0064 | AMR | PUR | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG01070 | hp1 | a0001 | c0002 | t0002 | g0175 | AMR | PUR | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG01070 | hp2 | a0002 | c0003 | t0001 | g0061 | AMR | PUR | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG01106 | hp1 | a0001 | c0002 | t0001 | g0139 | AMR | PUR | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG01106 | hp2 | a0001 | c0006 | t0001 | g0124 | AMR | PUR | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG01168 | hp1 | a0001 | c0005 | t0002 | g0188 | AMR | PUR | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG01168 | hp2 | a0001 | c0001 | t0001 | g0198 | AMR | PUR | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG01175 | hp1 | a0001 | c0002 | t0002 | g0130 | AMR | PUR | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG01175 | hp2 | a0001 | c0001 | t0004 | g0129 | AMR | PUR | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG01256 | hp1 | a0001 | c0001 | t0001 | g0214 | AMR | CLM | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG01256 | hp2 | a0001 | c0006 | t0001 | g0114 | AMR | CLM | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG01258 | hp1 | a0001 | c0001 | t0002 | g0119 | AMR | CLM | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG01258 | hp2 | a0001 | c0006 | t0001 | g0113 | AMR | CLM | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG01346 | hp1 | a0001 | c0001 | t0002 | g0093 | AMR | CLM | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG01346 | hp2 | a0001 | c0001 | t0001 | g0204 | AMR | CLM | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG01358 | hp1 | a0001 | c0001 | t0001 | g0042 | AMR | CLM | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG01358 | hp2 | a0002 | c0003 | t0001 | g0219 | AMR | CLM | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG01361 | hp1 | a0001 | c0001 | t0001 | g0107 | AMR | CLM | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG01361 | hp2 | a0001 | c0002 | t0002 | g0164 | AMR | CLM | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG01496 | hp1 | a0001 | c0001 | t0002 | g0011 | AMR | CLM | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG01496 | hp2 | a0001 | c0001 | t0001 | g0101 | AMR | CLM | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG01515 | hp1 | a0001 | c0002 | t0002 | g0174 | EUR | IBS | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG01515 | hp2 | a0001 | c0001 | t0001 | g0109 | EUR | IBS | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG01884 | hp1 | a0003 | c0009 | t0002 | g0078 | AFR | ACB | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG01884 | hp2 | a0003 | c0008 | t0002 | g0039 | AFR | ACB | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG01928 | hp1 | a0001 | c0002 | t0002 | g0157 | AMR | PEL | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG01928 | hp2 | a0001 | c0001 | t0002 | g0123 | AMR | PEL | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG01934 | hp1 | a0001 | c0001 | t0002 | g0118 | AMR | PEL | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG01934 | hp2 | a0001 | c0001 | t0001 | g0213 | AMR | PEL | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG01943 | hp1 | a0001 | c0001 | t0001 | g0108 | AMR | PEL | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG01943 | hp2 | a0001 | c0002 | t0002 | g0156 | AMR | PEL | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG01952 | hp1 | a0004 | c0017 | t0002 | g0163 | AMR | PEL | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG01952 | hp2 | a0001 | c0001 | t0002 | g0094 | AMR | PEL | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG01978 | hp1 | a0001 | c0001 | t0001 | g0116 | AMR | PEL | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG01978 | hp2 | a0001 | c0002 | t0002 | g0131 | AMR | PEL | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG01981 | hp1 | a0001 | c0002 | t0002 | g0168 | AMR | PEL | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG01981 | hp2 | a0001 | c0001 | t0001 | g0202 | AMR | PEL | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG01993 | hp1 | a0005 | c0015 | t0001 | g0105 | AMR | PEL | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG01993 | hp2 | a0001 | c0001 | t0001 | g0095 | AMR | PEL | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02004 | hp1 | a0001 | c0001 | t0001 | g0206 | AMR | PEL | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02004 | hp2 | a0001 | c0001 | t0002 | g0117 | AMR | PEL | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02015 | hp1 | a0002 | c0003 | t0001 | g0045 | EAS | KHV | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02015 | hp2 | a0001 | c0002 | t0001 | g0181 | EAS | KHV | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02055 | hp1 | a0001 | c0001 | t0002 | g0050 | AFR | ACB | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02055 | hp2 | a0001 | c0005 | t0002 | g0004 | AFR | ACB | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02071 | hp1 | a0002 | c0003 | t0001 | g0218 | EAS | KHV | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02071 | hp2 | a0001 | c0001 | t0002 | g0016 | EAS | KHV | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02074 | hp1 | a0002 | c0003 | t0001 | g0086 | EAS | KHV | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02074 | hp2 | a0001 | c0001 | t0002 | g0028 | EAS | KHV | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02083 | hp1 | a0002 | c0003 | t0002 | g0058 | EAS | KHV | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02083 | hp2 | a0001 | c0002 | t0002 | g0146 | EAS | KHV | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02135 | hp1 | a0001 | c0002 | t0002 | g0169 | EAS | KHV | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02135 | hp2 | a0001 | c0001 | t0001 | g0211 | EAS | KHV | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02148 | hp1 | a0001 | c0001 | t0003 | g0121 | AMR | PEL | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02148 | hp2 | a0001 | c0002 | t0002 | g0177 | AMR | PEL | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02258 | hp1 | a0001 | c0001 | t0002 | g0048 | AFR | ACB | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02258 | hp2 | a0001 | c0004 | t0001 | g0005 | AFR | ACB | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02280 | hp1 | a0001 | c0005 | t0002 | g0191 | AFR | ACB | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02280 | hp2 | a0001 | c0001 | t0001 | g0220 | AFR | ACB | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02451 | hp1 | a0001 | c0005 | t0002 | g0192 | AFR | ACB | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02451 | hp2 | a0003 | c0009 | t0002 | g0074 | AFR | ACB | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02523 | hp1 | a0001 | c0001 | t0001 | g0197 | EAS | KHV | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02523 | hp2 | a0001 | c0001 | t0002 | g0014 | EAS | KHV | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02602 | hp1 | a0001 | c0002 | t0002 | g0176 | SAS | PJL | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02602 | hp2 | a0002 | c0003 | t0001 | g0049 | SAS | PJL | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02615 | hp1 | a0001 | c0001 | t0001 | g0147 | AFR | GWD | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02615 | hp2 | a0001 | c0004 | t0002 | g0001 | AFR | GWD | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02630 | hp1 | a0001 | c0004 | t0001 | g0077 | AFR | GWD | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02630 | hp2 | a0001 | c0005 | t0002 | g0189 | AFR | GWD | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02647 | hp1 | a0001 | c0001 | t0001 | g0082 | AFR | GWD | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02647 | hp2 | a0001 | c0005 | t0002 | g0187 | AFR | GWD | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02683 | hp1 | a0001 | c0001 | t0001 | g0110 | SAS | PJL | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02683 | hp2 | a0001 | c0006 | t0001 | g0223 | SAS | PJL | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02698 | hp1 | a0002 | c0003 | t0001 | g0080 | SAS | PJL | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02698 | hp2 | a0001 | c0001 | t0001 | g0205 | SAS | PJL | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02723 | hp1 | a0007 | c0014 | t0002 | g0196 | AFR | GWD | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02723 | hp2 | a0003 | c0007 | t0002 | g0140 | AFR | GWD | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02735 | hp1 | a0002 | c0003 | t0001 | g0043 | SAS | PJL | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02735 | hp2 | a0001 | c0001 | t0001 | g0221 | SAS | PJL | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02738 | hp1 | a0001 | c0002 | t0002 | g0179 | SAS | PJL | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02738 | hp2 | a0001 | c0001 | t0001 | g0104 | SAS | PJL | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02809 | hp1 | a0001 | c0004 | t0001 | g0087 | AFR | GWD | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02809 | hp2 | a0001 | c0004 | t0002 | g0007 | AFR | GWD | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02818 | hp1 | a0003 | c0007 | t0002 | g0141 | AFR | GWD | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02818 | hp2 | a0001 | c0001 | t0001 | g0076 | AFR | GWD | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02886 | hp1 | a0001 | c0005 | t0002 | g0194 | AFR | GWD | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02886 | hp2 | a0001 | c0001 | t0001 | g0149 | AFR | GWD | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02895 | hp1 | a0003 | c0007 | t0002 | g0072 | AFR | GWD | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02895 | hp2 | a0001 | c0001 | t0001 | g0145 | AFR | GWD | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02922 | hp1 | a0001 | c0001 | t0001 | g0167 | AFR | ESN | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02922 | hp2 | a0001 | c0001 | t0001 | g0075 | AFR | ESN | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG03130 | hp1 | a0001 | c0012 | t0001 | g0142 | AFR | ESN | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG03130 | hp2 | a0001 | c0004 | t0002 | g0226 | AFR | ESN | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG03139 | hp1 | a0003 | c0007 | t0002 | g0079 | AFR | ESN | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG03139 | hp2 | a0001 | c0001 | t0001 | g0037 | AFR | ESN | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG03195 | hp1 | a0001 | c0001 | t0002 | g0051 | AFR | ESN | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG03195 | hp2 | a0001 | c0001 | t0001 | g0091 | AFR | ESN | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG03453 | hp1 | a0001 | c0004 | t0002 | g0002 | AFR | MSL | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG03453 | hp2 | a0001 | c0001 | t0001 | g0083 | AFR | MSL | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG03486 | hp1 | a0001 | c0005 | t0002 | g0190 | AFR | MSL | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG03486 | hp2 | a0002 | c0003 | t0001 | g0066 | AFR | MSL | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG03516 | hp1 | a0001 | c0001 | t0001 | g0173 | AFR | ESN | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG03516 | hp2 | a0006 | c0013 | t0002 | g0193 | AFR | ESN | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG03540 | hp1 | a0003 | c0007 | t0002 | g0148 | AFR | GWD | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG03540 | hp2 | a0001 | c0004 | t0002 | g0003 | AFR | GWD | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG03654 | hp1 | a0001 | c0002 | t0002 | g0153 | SAS | PJL | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG03654 | hp2 | a0001 | c0001 | t0001 | g0111 | SAS | PJL | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG03704 | hp1 | a0001 | c0001 | t0001 | g0122 | SAS | PJL | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG03704 | hp2 | a0001 | c0001 | t0002 | g0159 | SAS | PJL | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG03831 | hp1 | a0001 | c0001 | t0001 | g0029 | SAS | BEB | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG03831 | hp2 | a0002 | c0003 | t0001 | g0062 | SAS | BEB | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG03834 | hp1 | a0002 | c0003 | t0001 | g0010 | SAS | BEB | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG03834 | hp2 | a0001 | c0001 | t0001 | g0098 | SAS | BEB | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG04184 | hp1 | a0001 | c0001 | t0001 | g0096 | SAS | BEB | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG04184 | hp2 | a0001 | c0001 | t0002 | g0034 | SAS | BEB | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG04199 | hp1 | a0002 | c0003 | t0001 | g0070 | SAS | STU | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG04199 | hp2 | a0001 | c0002 | t0002 | g0166 | SAS | STU | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG04228 | hp1 | a0001 | c0001 | t0001 | g0013 | SAS | STU | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG04228 | hp2 | a0001 | c0001 | t0001 | g0201 | SAS | STU | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA18522 | hp1 | a0001 | c0001 | t0001 | g0161 | AFR | YRI | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA18522 | hp2 | a0003 | c0008 | t0002 | g0036 | AFR | YRI | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA18747 | hp1 | a0001 | c0001 | t0002 | g0021 | EAS | CHB | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA18747 | hp2 | a0002 | c0003 | t0001 | g0060 | EAS | CHB | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA18906 | hp1 | a0002 | c0003 | t0001 | g0067 | AFR | YRI | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA18906 | hp2 | a0003 | c0008 | t0002 | g0035 | AFR | YRI | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA18947 | hp1 | a0001 | c0002 | t0002 | g0172 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA18947 | hp2 | a0001 | c0001 | t0001 | g0199 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA18949 | hp1 | a0001 | c0001 | t0001 | g0099 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA18949 | hp2 | a0001 | c0002 | t0001 | g0180 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA18950 | hp1 | a0001 | c0002 | t0002 | g0162 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA18950 | hp2 | a0001 | c0001 | t0001 | g0222 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA18952 | hp1 | a0009 | c0016 | t0001 | g0089 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA18952 | hp2 | a0001 | c0001 | t0001 | g0208 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA18956 | hp1 | a0002 | c0003 | t0001 | g0090 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA18956 | hp2 | a0001 | c0002 | t0002 | g0132 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA18961 | hp1 | a0001 | c0001 | t0002 | g0115 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA18961 | hp2 | a0001 | c0001 | t0002 | g0012 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA18964 | hp1 | a0001 | c0002 | t0002 | g0136 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA18964 | hp2 | a0001 | c0001 | t0002 | g0112 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA18969 | hp1 | a0001 | c0002 | t0002 | g0134 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA18969 | hp2 | a0002 | c0003 | t0001 | g0044 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA18970 | hp1 | a0001 | c0010 | t0002 | g0024 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA18970 | hp2 | a0001 | c0001 | t0001 | g0209 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA18971 | hp1 | a0001 | c0002 | t0002 | g0135 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA18971 | hp2 | a0002 | c0003 | t0001 | g0047 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA18972 | hp1 | a0001 | c0001 | t0002 | g0033 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA18972 | hp2 | a0002 | c0003 | t0001 | g0068 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA18973 | hp1 | a0001 | c0001 | t0002 | g0025 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA18973 | hp2 | a0002 | c0003 | t0001 | g0071 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA18978 | hp1 | a0001 | c0001 | t0001 | g0032 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA18978 | hp2 | a0001 | c0002 | t0001 | g0184 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA18979 | hp1 | a0001 | c0001 | t0002 | g0015 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA18979 | hp2 | a0001 | c0001 | t0001 | g0224 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA18982 | hp1 | a0001 | c0002 | t0001 | g0183 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA18982 | hp2 | a0001 | c0001 | t0001 | g0210 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA18987 | hp1 | a0002 | c0003 | t0001 | g0100 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA18987 | hp2 | a0001 | c0002 | t0002 | g0143 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA18988 | hp1 | a0001 | c0001 | t0002 | g0022 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA18988 | hp2 | a0001 | c0002 | t0002 | g0154 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA18989 | hp1 | a0001 | c0002 | t0002 | g0137 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA18989 | hp2 | a0002 | c0003 | t0001 | g0092 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA18990 | hp1 | a0002 | c0003 | t0001 | g0065 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA18990 | hp2 | a0001 | c0002 | t0002 | g0170 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA18992 | hp1 | a0001 | c0002 | t0002 | g0151 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA18992 | hp2 | a0001 | c0001 | t0002 | g0019 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA18995 | hp1 | a0001 | c0001 | t0002 | g0030 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA18995 | hp2 | a0002 | c0003 | t0001 | g0056 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA18998 | hp1 | a0002 | c0003 | t0001 | g0052 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA18998 | hp2 | a0001 | c0001 | t0002 | g0027 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA19002 | hp1 | a0001 | c0001 | t0002 | g0023 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA19002 | hp2 | a0001 | c0002 | t0002 | g0158 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA19009 | hp1 | a0002 | c0003 | t0001 | g0046 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA19009 | hp2 | a0001 | c0001 | t0002 | g0018 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA19030 | hp1 | a0003 | c0007 | t0002 | g0081 | AFR | LWK | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA19030 | hp2 | a0001 | c0001 | t0001 | g0008 | AFR | LWK | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA19043 | hp1 | a0001 | c0004 | t0002 | g0186 | AFR | LWK | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA19043 | hp2 | a0003 | c0008 | t0002 | g0038 | AFR | LWK | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA19057 | hp1 | a0002 | c0003 | t0001 | g0063 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA19057 | hp2 | a0001 | c0001 | t0002 | g0026 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA19063 | hp1 | a0001 | c0001 | t0002 | g0017 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA19063 | hp2 | a0001 | c0001 | t0001 | g0216 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA19064 | hp1 | a0001 | c0001 | t0001 | g0127 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA19064 | hp2 | a0001 | c0002 | t0002 | g0155 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA19068 | hp1 | a0001 | c0001 | t0001 | g0207 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA19068 | hp2 | a0002 | c0003 | t0001 | g0069 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA19070 | hp1 | a0001 | c0002 | t0002 | g0150 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA19070 | hp2 | a0002 | c0003 | t0001 | g0054 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA19074 | hp1 | a0001 | c0002 | t0002 | g0160 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA19074 | hp2 | a0002 | c0003 | t0001 | g0073 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA19081 | hp1 | a0001 | c0001 | t0001 | g0215 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA19081 | hp2 | a0001 | c0002 | t0002 | g0133 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA19083 | hp1 | a0001 | c0001 | t0002 | g0020 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA19083 | hp2 | a0002 | c0003 | t0001 | g0053 | EAS | JPT | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA20129 | hp1 | a0001 | c0006 | t0001 | g0040 | AFR | ASW | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA20129 | hp2 | a0001 | c0004 | t0002 | g0006 | AFR | ASW | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA20752 | hp1 | a0001 | c0001 | t0001 | g0212 | EUR | TSI | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA20752 | hp2 | a0001 | c0006 | t0001 | g0120 | EUR | TSI | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA20905 | hp1 | a0001 | c0002 | t0002 | g0152 | SAS | GIH | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA20905 | hp2 | a0001 | c0001 | t0001 | g0128 | SAS | GIH | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02109 | hp1 | a0001 | c0001 | t0001 | g0106 | AFR | ACB | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG02109 | hp2 | a0001 | c0001 | t0001 | g0144 | AFR | ACB | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG03471 | hp1 | a0001 | c0004 | t0002 | g0085 | AFR | MSL | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG03471 | hp2 | a0001 | c0001 | t0001 | g0084 | AFR | MSL | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG06807 | hp1 | a0008 | c0011 | t0002 | g0165 | AFR | USA | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| HG06807 | hp2 | a0001 | c0001 | t0001 | g0225 | AFR | USA | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA20300 | hp1 | a0001 | c0005 | t0001 | g0195 | AFR | USA | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| NA20300 | hp2 | a0002 | c0003 | t0001 | g0041 | AFR | USA | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| homoSapiens_chm13v2 | hp1 | a0001 | c0001 | t0001 | g0203 | REF | REF | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| homoSapiens_grch38 | hp1 | a0002 | c0003 | t0001 | g0055 | REF | REF | AP3B1_chr5_77997326_78299698 | AP3B1 | chr5 | 77997326 | 78299698 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr5:78003030
|
C | A | 1 | a0006 | 1 | HG03516.hp2 | missense_variant | MODERATE | c.3157G>T | p.Gly1053Trp | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 27/27 | 3276/3980 | 3157/3285 | 1053/1094 | chr5 | 78003030 | ||
| chr5:78015515
|
ACAG | A | 1 | a0003 | 12 | HG01884.hp1 HG01884.hp2 HG02451.hp2 others(9): Show |
disruptive_inframe_deletion | MODERATE | c.3023_3025delCTG | p.Ala1008del | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/27 | 3144/3980 | 3023/3285 | 1008/1094 | chr5 | 78015515 | ||
| chr5:78015546
|
C | T | 1 | a0008 | 1 | HG06807.hp1 | missense_variant&splice_region_variant | MODERATE | c.2995G>A | p.Val999Met | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/27 | 3114/3980 | 2995/3285 | 999/1094 | chr5 | 78015546 | ||
| chr5:78039267
|
G | A | 1 | a0007 | 1 | HG02723.hp1 | missense_variant | MODERATE | c.2585C>T | p.Thr862Ile | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 23/27 | 2704/3980 | 2585/3285 | 862/1094 | chr5 | 78039267 | ||
| chr5:78129204
|
A | T | 7 | a0001a0003a0004others(4): Show | 188 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(185): Show |
missense_variant | MODERATE | c.1754T>A | p.Val585Glu | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 16/27 | 1873/3980 | 1754/3285 | 585/1094 | chr5 | 78129204 | ||
| chr5:78129210
|
G | A | 1 | a0006 | 1 | HG03516.hp2 | missense_variant | MODERATE | c.1748C>T | p.Pro583Leu | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 16/27 | 1867/3980 | 1748/3285 | 583/1094 | chr5 | 78129210 | ||
| chr5:78129281
|
T | G | 1 | a0005 | 1 | HG01993.hp1 | missense_variant | MODERATE | c.1677A>C | p.Leu559Phe | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 16/27 | 1796/3980 | 1677/3285 | 559/1094 | chr5 | 78129281 | ||
| chr5:78156310
|
G | A | 1 | a0009 | 1 | NA18952.hp1 | missense_variant | MODERATE | c.1421C>T | p.Ala474Val | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/27 | 1540/3980 | 1421/3285 | 474/1094 | chr5 | 78156310 | ||
| chr5:78181599
|
T | A | 1 | a0004 | 1 | HG01952.hp1 | missense_variant | MODERATE | c.850A>T | p.Thr284Ser | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 8/27 | 969/3980 | 850/3285 | 284/1094 | chr5 | 78181599 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr5:78116187
|
A | G | 7 | a0001c0002a0001c0004a0001c0005others(4): Show | 68 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(65): Show |
synonymous_variant | LOW | c.2016T>C | p.Ala672Ala | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 18/27 | 2135/3980 | 2016/3285 | 672/1094 | chr5 | 78116187 | ||
| chr5:78129275
|
G | A | 1 | a0001c0006 | 7 | HG00099.hp1 HG01106.hp2 HG01256.hp2 others(4): Show |
synonymous_variant | LOW | c.1683C>T | p.Leu561Leu | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 16/27 | 1802/3980 | 1683/3285 | 561/1094 | chr5 | 78129275 | ||
| chr5:78175677
|
C | G | 2 | a0001c0005a0006c0013 | 10 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(7): Show |
synonymous_variant | LOW | c.1116G>C | p.Leu372Leu | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/27 | 1235/3980 | 1116/3285 | 372/1094 | chr5 | 78175677 | ||
| chr5:78177341
|
A | G | 5 | a0001c0002a0001c0012a0003c0007others(2): Show | 51 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(48): Show |
splice_region_variant&synonymous_variant | LOW | c.1038T>C | p.Asn346Asn | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 9/27 | 1157/3980 | 1038/3285 | 346/1094 | chr5 | 78177341 | ||
| chr5:78181507
|
C | T | 1 | a0001c0010 | 1 | NA18970.hp1 | splice_region_variant&synonymous_variant | LOW | c.942G>A | p.Ala314Ala | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 8/27 | 1061/3980 | 942/3285 | 314/1094 | chr5 | 78181507 | ||
| chr5:78216154
|
T | C | 1 | a0003c0008 | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
synonymous_variant | LOW | c.687A>G | p.Leu229Leu | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/27 | 806/3980 | 687/3285 | 229/1094 | chr5 | 78216154 | ||
| chr5:78228180
|
T | G | 1 | a0003c0008 | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
synonymous_variant | LOW | c.339A>C | p.Ala113Ala | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 4/27 | 458/3980 | 339/3285 | 113/1094 | chr5 | 78228180 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr5:78002795
|
A | T | 14 | a0001c0001t0002a0001c0001t0003a0001c0002t0002others(11): Show | 104 | HG00280.hp2 HG00408.hp1 HG00558.hp2 others(101): Show |
3_prime_UTR_variant | MODIFIER | c.*107T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 27/27 | 107 | chr5 | 78002795 | |||||
| chr5:78002858
|
C | T | 1 | a0001c0001t0003 | 1 | HG02148.hp1 | 3_prime_UTR_variant | MODIFIER | c.*44G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 27/27 | 44 | chr5 | 78002858 | |||||
| chr5:78002861
|
T | C | 1 | a0001c0001t0004 | 1 | HG01175.hp2 | 3_prime_UTR_variant | MODIFIER | c.*41A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 27/27 | 41 | chr5 | 78002861 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr5:78003354
|
T | G | 30 | a0001c0001t0001g0013a0001c0001t0002g0012a0001c0001t0002g0014others(27): Show | 30 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(27): Show |
intron_variant | MODIFIER | c.3132-299A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78003354 | ||||||
| chr5:78003395
|
T | C | 1 | a0001c0001t0001g0145 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.3132-340A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78003395 | ||||||
| chr5:78003573
|
T | C | 2 | a0001c0002t0002g0158a0001c0002t0002g0169 | 2 | HG02135.hp1 NA19002.hp2 |
intron_variant | MODIFIER | c.3132-518A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78003573 | ||||||
| chr5:78003859
|
C | T | 1 | a0001c0001t0001g0101 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.3132-804G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78003859 | ||||||
| chr5:78003987
|
G | A | 1 | a0005c0015t0001g0105 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.3132-932C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78003987 | ||||||
| chr5:78004318
|
G | A | 3 | a0001c0004t0002g0001a0001c0004t0002g0002a0001c0004t0002g0003 | 3 | HG02615.hp2 HG03453.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.3132-1263C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78004318 | ||||||
| chr5:78004405
|
C | T | 1 | a0001c0001t0001g0214 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.3132-1350G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78004405 | ||||||
| chr5:78004523
|
A | C | 1 | a0001c0005t0002g0187 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.3132-1468T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78004523 | ||||||
| chr5:78004580
|
C | T | 1 | a0001c0001t0002g0159 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.3132-1525G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78004580 | ||||||
| chr5:78004785
|
T | C | 5 | a0001c0001t0001g0095a0001c0001t0001g0098a0001c0001t0001g0101others(2): Show | 5 | HG01496.hp2 HG01943.hp1 HG01993.hp1 others(2): Show |
intron_variant | MODIFIER | c.3132-1730A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78004785 | ||||||
| chr5:78004983
|
T | C | 7 | a0001c0004t0002g0085a0001c0005t0002g0004a0001c0005t0002g0187others(4): Show | 7 | HG02055.hp2 HG02280.hp1 HG02630.hp2 others(4): Show |
intron_variant | MODIFIER | c.3132-1928A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78004983 | ||||||
| chr5:78005114
|
C | T | 1 | a0001c0004t0002g0003 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.3132-2059G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78005114 | ||||||
| chr5:78005310
|
G | C | 2 | a0001c0002t0002g0158a0001c0002t0002g0169 | 2 | HG02135.hp1 NA19002.hp2 |
intron_variant | MODIFIER | c.3132-2255C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78005310 | ||||||
| chr5:78005311
|
C | T | 29 | a0001c0001t0002g0012a0001c0001t0002g0014a0001c0001t0002g0015others(26): Show | 29 | HG01258.hp1 HG01346.hp1 HG01928.hp2 others(26): Show |
intron_variant | MODIFIER | c.3132-2256G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78005311 | ||||||
| chr5:78005431
|
G | C | 2 | a0001c0001t0001g0147a0001c0001t0001g0173 | 2 | HG02615.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.3132-2376C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78005431 | ||||||
| chr5:78005730
|
A | G | 15 | a0001c0001t0002g0048a0001c0001t0002g0050a0001c0001t0002g0051others(12): Show | 15 | HG01884.hp1 HG01884.hp2 HG02055.hp1 others(12): Show |
intron_variant | MODIFIER | c.3132-2675T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78005730 | ||||||
| chr5:78005905
|
G | C | 3 | a0001c0002t0002g0154a0001c0002t0002g0160a0001c0002t0002g0162 | 3 | NA18950.hp1 NA18988.hp2 NA19074.hp1 |
intron_variant | MODIFIER | c.3132-2850C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78005905 | ||||||
| chr5:78005998
|
G | A | 12 | a0003c0007t0002g0072a0003c0007t0002g0079a0003c0007t0002g0081others(9): Show | 12 | HG01884.hp1 HG01884.hp2 HG02451.hp2 others(9): Show |
intron_variant | MODIFIER | c.3132-2943C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78005998 | ||||||
| chr5:78006177
|
T | C | 3 | a0001c0004t0002g0001a0001c0004t0002g0002a0001c0004t0002g0003 | 3 | HG02615.hp2 HG03453.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.3132-3122A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78006177 | ||||||
| chr5:78006430
|
A | C | 1 | a0001c0001t0001g0205 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.3132-3375T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78006430 | ||||||
| chr5:78006522
|
C | T | 3 | a0001c0001t0002g0097a0001c0001t0002g0112a0001c0001t0002g0115 | 3 | HG00558.hp2 NA18961.hp1 NA18964.hp2 |
intron_variant | MODIFIER | c.3132-3467G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78006522 | ||||||
| chr5:78006880
|
T | G | 1 | a0002c0003t0001g0057 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.3132-3825A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78006880 | ||||||
| chr5:78007303
|
C | G | 1 | a0001c0004t0001g0087 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.3132-4248G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78007303 | ||||||
| chr5:78007435
|
CT | C | 45 | a0001c0001t0001g0013a0001c0001t0002g0011a0001c0001t0002g0012others(42): Show | 45 | HG01258.hp1 HG01346.hp1 HG01496.hp1 others(42): Show |
intron_variant | MODIFIER | c.3132-4381delA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78007435 | ||||||
| chr5:78007436
|
T | C | 2 | a0001c0002t0002g0158a0001c0002t0002g0169 | 2 | HG02135.hp1 NA19002.hp2 |
intron_variant | MODIFIER | c.3132-4381A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78007436 | ||||||
| chr5:78007721
|
T | C | 12 | a0003c0007t0002g0072a0003c0007t0002g0079a0003c0007t0002g0081others(9): Show | 12 | HG01884.hp1 HG01884.hp2 HG02451.hp2 others(9): Show |
intron_variant | MODIFIER | c.3132-4666A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78007721 | ||||||
| chr5:78007813
|
C | T | 1 | a0002c0003t0001g0047 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.3132-4758G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78007813 | ||||||
| chr5:78008009
|
C | T | 2 | a0001c0002t0002g0158a0001c0002t0002g0169 | 2 | HG02135.hp1 NA19002.hp2 |
intron_variant | MODIFIER | c.3132-4954G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78008009 | ||||||
| chr5:78008337
|
T | C | 43 | a0001c0001t0002g0097a0001c0001t0002g0112a0001c0001t0002g0115others(40): Show | 43 | HG00280.hp2 HG00558.hp2 HG00597.hp2 others(40): Show |
intron_variant | MODIFIER | c.3132-5282A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78008337 | ||||||
| chr5:78008405
|
G | A | 1 | a0002c0003t0001g0073 | 1 | NA19074.hp2 | intron_variant | MODIFIER | c.3132-5350C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78008405 | ||||||
| chr5:78008480
|
C | T | 1 | a0001c0005t0002g0188 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.3132-5425G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78008480 | ||||||
| chr5:78008482
|
C | T | 2 | a0001c0002t0002g0158a0001c0002t0002g0169 | 2 | HG02135.hp1 NA19002.hp2 |
intron_variant | MODIFIER | c.3132-5427G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78008482 | ||||||
| chr5:78008484
|
T | A | 1 | a0001c0001t0001g0201 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.3132-5429A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78008484 | ||||||
| chr5:78008759
|
C | T | 1 | a0002c0003t0001g0010 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.3132-5704G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78008759 | ||||||
| chr5:78008986
|
C | A | 1 | a0001c0001t0002g0159 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.3132-5931G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78008986 | ||||||
| chr5:78009120
|
T | C | 2 | a0001c0002t0002g0158a0001c0002t0002g0169 | 2 | HG02135.hp1 NA19002.hp2 |
intron_variant | MODIFIER | c.3132-6065A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78009120 | ||||||
| chr5:78009138
|
C | G | 43 | a0001c0001t0002g0097a0001c0001t0002g0112a0001c0001t0002g0115others(40): Show | 43 | HG00280.hp2 HG00558.hp2 HG00597.hp2 others(40): Show |
intron_variant | MODIFIER | c.3132-6083G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78009138 | ||||||
| chr5:78009155
|
C | T | 6 | a0001c0002t0002g0064a0001c0002t0002g0175a0001c0002t0002g0176others(3): Show | 6 | HG00280.hp2 HG00741.hp2 HG01070.hp1 others(3): Show |
intron_variant | MODIFIER | c.3132-6100G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78009155 | ||||||
| chr5:78009291
|
C | CA | 16 | a0001c0001t0001g0104a0001c0001t0002g0050a0001c0001t0003g0121others(13): Show | 16 | HG01175.hp2 HG01884.hp1 HG01884.hp2 others(13): Show |
intron_variant | MODIFIER | c.3131+6118dupT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78009291 | ||||||
| chr5:78009503
|
T | C | 1 | a0002c0003t0001g0088 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.3131+5907A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78009503 | ||||||
| chr5:78009587
|
G | C | 2 | a0001c0001t0001g0103a0001c0002t0001g0139 | 2 | HG00639.hp2 HG01106.hp1 |
intron_variant | MODIFIER | c.3131+5823C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78009587 | ||||||
| chr5:78009717
|
T | C | 2 | a0001c0002t0002g0158a0001c0002t0002g0169 | 2 | HG02135.hp1 NA19002.hp2 |
intron_variant | MODIFIER | c.3131+5693A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78009717 | ||||||
| chr5:78009787
|
A | AG | 31 | a0001c0001t0001g0013a0001c0001t0002g0012a0001c0001t0002g0014others(28): Show | 31 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(28): Show |
intron_variant | MODIFIER | c.3131+5622dupC | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78009787 | ||||||
| chr5:78010101
|
T | C | 1 | a0002c0003t0001g0045 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.3131+5309A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78010101 | ||||||
| chr5:78010210
|
T | C | 12 | a0003c0007t0002g0072a0003c0007t0002g0079a0003c0007t0002g0081others(9): Show | 12 | HG01884.hp1 HG01884.hp2 HG02451.hp2 others(9): Show |
intron_variant | MODIFIER | c.3131+5200A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78010210 | ||||||
| chr5:78010221
|
T | C | 4 | a0002c0003t0001g0041a0002c0003t0001g0088a0002c0003t0001g0218others(1): Show | 4 | HG00597.hp1 HG01358.hp2 HG02071.hp1 others(1): Show |
intron_variant | MODIFIER | c.3131+5189A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78010221 | ||||||
| chr5:78010279
|
C | A | 1 | a0001c0001t0001g0214 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.3131+5131G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78010279 | ||||||
| chr5:78010342
|
C | T | 1 | a0001c0005t0002g0188 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.3131+5068G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78010342 | ||||||
| chr5:78010389
|
T | C | 1 | a0001c0001t0001g0209 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.3131+5021A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78010389 | ||||||
| chr5:78010566
|
C | T | 109 | a0001c0001t0001g0013a0001c0001t0002g0011a0001c0001t0002g0012others(106): Show | 109 | HG00280.hp2 HG00558.hp2 HG00597.hp2 others(106): Show |
intron_variant | MODIFIER | c.3131+4844G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78010566 | ||||||
| chr5:78010716
|
C | T | 1 | a0002c0003t0001g0057 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.3131+4694G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78010716 | ||||||
| chr5:78010860
|
T | TGTATA | 15 | a0001c0001t0002g0048a0001c0001t0002g0050a0001c0001t0002g0051others(12): Show | 15 | HG01884.hp1 HG01884.hp2 HG02055.hp1 others(12): Show |
intron_variant | MODIFIER | c.3131+4545_3131+454 others(9): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78010860 | ||||||
| chr5:78010984
|
G | A | 1 | a0001c0002t0002g0152 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.3131+4426C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78010984 | ||||||
| chr5:78010991
|
G | A | 29 | a0001c0001t0001g0013a0001c0001t0002g0012a0001c0001t0002g0014others(26): Show | 29 | HG01258.hp1 HG01346.hp1 HG01928.hp2 others(26): Show |
intron_variant | MODIFIER | c.3131+4419C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78010991 | ||||||
| chr5:78011041
|
C | CT | 7 | a0001c0001t0001g0037a0001c0001t0001g0161a0001c0001t0001g0197others(4): Show | 7 | HG00558.hp1 HG01168.hp1 HG02523.hp1 others(4): Show |
intron_variant | MODIFIER | c.3131+4368dupA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78011041 | ||||||
| chr5:78011041
|
CT | C | 44 | a0001c0001t0001g0013a0001c0001t0002g0012a0001c0001t0002g0014others(41): Show | 44 | HG01258.hp1 HG01346.hp1 HG01515.hp1 others(41): Show |
intron_variant | MODIFIER | c.3131+4368delA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78011041 | ||||||
| chr5:78011043
|
T | C | 42 | a0001c0001t0002g0097a0001c0001t0002g0112a0001c0001t0002g0115others(39): Show | 42 | HG00280.hp2 HG00558.hp2 HG00597.hp2 others(39): Show |
intron_variant | MODIFIER | c.3131+4367A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78011043 | ||||||
| chr5:78011044
|
T | C | 1 | a0001c0002t0002g0174 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.3131+4366A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78011044 | ||||||
| chr5:78011091
|
TG | T | 30 | a0001c0001t0001g0013a0001c0001t0002g0012a0001c0001t0002g0014others(27): Show | 30 | HG01258.hp1 HG01346.hp1 HG01928.hp2 others(27): Show |
intron_variant | MODIFIER | c.3131+4318delC | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78011091 | ||||||
| chr5:78011103
|
G | A | 2 | a0001c0001t0001g0104a0001c0001t0001g0128 | 2 | HG02738.hp2 NA20905.hp2 |
intron_variant | MODIFIER | c.3131+4307C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78011103 | ||||||
| chr5:78011188
|
G | A | 2 | a0001c0002t0002g0158a0001c0002t0002g0169 | 2 | HG02135.hp1 NA19002.hp2 |
intron_variant | MODIFIER | c.3131+4222C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78011188 | ||||||
| chr5:78011189
|
C | T | 1 | a0001c0002t0001g0183 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.3131+4221G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78011189 | ||||||
| chr5:78011263
|
C | T | 2 | a0001c0001t0001g0147a0001c0001t0001g0173 | 2 | HG02615.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.3131+4147G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78011263 | ||||||
| chr5:78011335
|
C | T | 1 | a0002c0003t0001g0046 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.3131+4075G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78011335 | ||||||
| chr5:78011501
|
T | C | 2 | a0001c0002t0002g0158a0001c0002t0002g0169 | 2 | HG02135.hp1 NA19002.hp2 |
intron_variant | MODIFIER | c.3131+3909A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78011501 | ||||||
| chr5:78011667
|
T | C | 15 | a0001c0001t0002g0048a0001c0001t0002g0050a0001c0001t0002g0051others(12): Show | 15 | HG01884.hp1 HG01884.hp2 HG02055.hp1 others(12): Show |
intron_variant | MODIFIER | c.3131+3743A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78011667 | ||||||
| chr5:78012354
|
C | CA | 106 | a0001c0001t0001g0013a0001c0001t0002g0011a0001c0001t0002g0012others(103): Show | 106 | HG00280.hp2 HG00558.hp2 HG00597.hp2 others(103): Show |
intron_variant | MODIFIER | c.3131+3055_3131+305 others(5): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78012354 | ||||||
| chr5:78012486
|
T | TAC | 2 | a0001c0001t0001g0216a0002c0003t0001g0068 | 2 | NA18972.hp2 NA19063.hp2 |
intron_variant | MODIFIER | c.3131+2922_3131+292 others(6): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78012486 | ||||||
| chr5:78012664
|
C | T | 1 | a0001c0005t0002g0188 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.3131+2746G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78012664 | ||||||
| chr5:78012816
|
G | T | 6 | a0003c0007t0002g0072a0003c0007t0002g0079a0003c0007t0002g0081others(3): Show | 6 | HG02723.hp2 HG02818.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.3131+2594C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78012816 | ||||||
| chr5:78012885
|
G | A | 1 | a0003c0007t0002g0072 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.3131+2525C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78012885 | ||||||
| chr5:78013122
|
C | A | 2 | a0001c0001t0001g0008a0001c0001t0001g0009 | 2 | HG00741.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.3131+2288G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78013122 | ||||||
| chr5:78013236
|
G | C | 1 | a0001c0001t0001g0206 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.3131+2174C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78013236 | ||||||
| chr5:78013390
|
TG | T | 12 | a0003c0007t0002g0072a0003c0007t0002g0079a0003c0007t0002g0081others(9): Show | 12 | HG01884.hp1 HG01884.hp2 HG02451.hp2 others(9): Show |
intron_variant | MODIFIER | c.3131+2019delC | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78013390 | ||||||
| chr5:78013407
|
AC | A | 12 | a0003c0007t0002g0072a0003c0007t0002g0079a0003c0007t0002g0081others(9): Show | 12 | HG01884.hp1 HG01884.hp2 HG02451.hp2 others(9): Show |
intron_variant | MODIFIER | c.3131+2002delG | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78013407 | ||||||
| chr5:78013459
|
T | C | 12 | a0003c0007t0002g0072a0003c0007t0002g0079a0003c0007t0002g0081others(9): Show | 12 | HG01884.hp1 HG01884.hp2 HG02451.hp2 others(9): Show |
intron_variant | MODIFIER | c.3131+1951A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78013459 | ||||||
| chr5:78013601
|
C | T | 1 | a0001c0001t0004g0129 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.3131+1809G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78013601 | ||||||
| chr5:78013729
|
C | G | 5 | a0001c0005t0002g0004a0001c0005t0002g0188a0001c0005t0002g0189others(2): Show | 5 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(2): Show |
intron_variant | MODIFIER | c.3131+1681G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78013729 | ||||||
| chr5:78013796
|
G | A | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.3131+1614C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78013796 | ||||||
| chr5:78013872
|
A | T | 1 | a0001c0001t0001g0099 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.3131+1538T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78013872 | ||||||
| chr5:78013886
|
G | A | 23 | a0001c0001t0001g0095a0001c0001t0001g0096a0001c0001t0001g0098others(20): Show | 23 | HG00099.hp1 HG01106.hp2 HG01175.hp2 others(20): Show |
intron_variant | MODIFIER | c.3131+1524C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78013886 | ||||||
| chr5:78013993
|
C | A | 10 | a0001c0001t0001g0032a0002c0003t0001g0044a0002c0003t0001g0052others(7): Show | 10 | HG00280.hp1 HG02074.hp1 NA18969.hp2 others(7): Show |
intron_variant | MODIFIER | c.3131+1417G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78013993 | ||||||
| chr5:78014094
|
C | T | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.3131+1316G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78014094 | ||||||
| chr5:78014141
|
T | C | 223 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(220): Show | 223 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(220): Show |
intron_variant | MODIFIER | c.3131+1269A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78014141 | ||||||
| chr5:78014207
|
T | TA | 24 | a0001c0001t0001g0032a0001c0005t0002g0189a0002c0003t0001g0044others(21): Show | 24 | HG00280.hp1 HG00408.hp2 HG01884.hp1 others(21): Show |
intron_variant | MODIFIER | c.3131+1202dupT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78014207 | ||||||
| chr5:78014207
|
T | TAA | 5 | a0001c0002t0002g0158a0001c0002t0002g0169a0003c0008t0002g0035others(2): Show | 5 | HG02135.hp1 NA18522.hp2 NA18906.hp2 others(2): Show |
intron_variant | MODIFIER | c.3131+1201_3131+120 others(6): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78014207 | ||||||
| chr5:78014214
|
A | G | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.3131+1196T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78014214 | ||||||
| chr5:78014441
|
A | G | 43 | a0001c0001t0002g0097a0001c0001t0002g0112a0001c0001t0002g0115others(40): Show | 43 | HG00280.hp2 HG00558.hp2 HG00597.hp2 others(40): Show |
intron_variant | MODIFIER | c.3131+969T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78014441 | ||||||
| chr5:78014653
|
C | T | 12 | a0003c0007t0002g0072a0003c0007t0002g0079a0003c0007t0002g0081others(9): Show | 12 | HG01884.hp1 HG01884.hp2 HG02451.hp2 others(9): Show |
intron_variant | MODIFIER | c.3131+757G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78014653 | ||||||
| chr5:78014712
|
T | A | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.3131+698A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78014712 | ||||||
| chr5:78014972
|
G | A | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.3131+438C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78014972 | ||||||
| chr5:78014979
|
C | T | 12 | a0003c0007t0002g0072a0003c0007t0002g0079a0003c0007t0002g0081others(9): Show | 12 | HG01884.hp1 HG01884.hp2 HG02451.hp2 others(9): Show |
intron_variant | MODIFIER | c.3131+431G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78014979 | ||||||
| chr5:78015006
|
G | A | 12 | a0003c0007t0002g0072a0003c0007t0002g0079a0003c0007t0002g0081others(9): Show | 12 | HG01884.hp1 HG01884.hp2 HG02451.hp2 others(9): Show |
intron_variant | MODIFIER | c.3131+404C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78015006 | ||||||
| chr5:78015128
|
A | T | 12 | a0003c0007t0002g0072a0003c0007t0002g0079a0003c0007t0002g0081others(9): Show | 12 | HG01884.hp1 HG01884.hp2 HG02451.hp2 others(9): Show |
intron_variant | MODIFIER | c.3131+282T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78015128 | ||||||
| chr5:78015294
|
G | GTA | 30 | a0001c0001t0001g0013a0001c0001t0002g0012a0001c0001t0002g0014others(27): Show | 30 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(27): Show |
intron_variant | MODIFIER | c.3131+114_3131+115d others(4): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/26 | chr5 | 78015294 | ||||||
| chr5:78015661
|
C | T | 2 | a0001c0005t0002g0192a0001c0005t0002g0194 | 2 | HG02451.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.2993-113G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 25/26 | chr5 | 78015661 | ||||||
| chr5:78015716
|
C | T | 1 | a0001c0001t0001g0032 | 1 | NA18978.hp1 | intron_variant | MODIFIER | c.2993-168G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 25/26 | chr5 | 78015716 | ||||||
| chr5:78015726
|
T | C | 1 | a0001c0004t0002g0226 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.2993-178A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 25/26 | chr5 | 78015726 | ||||||
| chr5:78016198
|
GA | G | 44 | a0001c0001t0002g0097a0001c0001t0002g0112a0001c0001t0002g0115others(41): Show | 44 | HG00280.hp2 HG00558.hp2 HG00597.hp2 others(41): Show |
intron_variant | MODIFIER | c.2993-651delT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 25/26 | chr5 | 78016198 | ||||||
| chr5:78016403
|
C | T | 2 | a0001c0001t0001g0102a0001c0002t0001g0138 | 2 | HG00099.hp2 HG00639.hp1 |
intron_variant | MODIFIER | c.2993-855G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 25/26 | chr5 | 78016403 | ||||||
| chr5:78016506
|
G | T | 1 | a0001c0001t0001g0082 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.2993-958C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 25/26 | chr5 | 78016506 | ||||||
| chr5:78016516
|
A | G | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.2993-968T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 25/26 | chr5 | 78016516 | ||||||
| chr5:78016704
|
G | T | 1 | a0002c0003t0001g0100 | 1 | NA18987.hp1 | intron_variant | MODIFIER | c.2993-1156C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 25/26 | chr5 | 78016704 | ||||||
| chr5:78016706
|
C | T | 1 | a0001c0001t0002g0051 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.2993-1158G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 25/26 | chr5 | 78016706 | ||||||
| chr5:78016813
|
T | C | 5 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0075others(2): Show | 5 | HG00735.hp2 HG00741.hp1 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.2993-1265A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 25/26 | chr5 | 78016813 | ||||||
| chr5:78017426
|
T | C | 31 | a0001c0001t0001g0013a0001c0001t0002g0012a0001c0001t0002g0014others(28): Show | 31 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(28): Show |
intron_variant | MODIFIER | c.2993-1878A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 25/26 | chr5 | 78017426 | ||||||
| chr5:78017562
|
T | G | 3 | a0002c0003t0001g0053a0002c0003t0001g0054a0002c0003t0001g0086 | 3 | HG02074.hp1 NA19070.hp2 NA19083.hp2 |
intron_variant | MODIFIER | c.2993-2014A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 25/26 | chr5 | 78017562 | ||||||
| chr5:78017655
|
A | C | 1 | a0001c0004t0002g0226 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.2993-2107T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 25/26 | chr5 | 78017655 | ||||||
| chr5:78017696
|
A | T | 1 | a0001c0004t0002g0006 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.2993-2148T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 25/26 | chr5 | 78017696 | ||||||
| chr5:78017819
|
G | A | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.2993-2271C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 25/26 | chr5 | 78017819 | ||||||
| chr5:78017849
|
A | C | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.2993-2301T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 25/26 | chr5 | 78017849 | ||||||
| chr5:78017870
|
G | A | 15 | a0001c0001t0002g0048a0001c0001t0002g0050a0001c0001t0002g0051others(12): Show | 15 | HG01884.hp1 HG01884.hp2 HG02055.hp1 others(12): Show |
intron_variant | MODIFIER | c.2993-2322C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 25/26 | chr5 | 78017870 | ||||||
| chr5:78017915
|
A | G | 47 | a0001c0001t0001g0013a0001c0001t0002g0012a0001c0001t0002g0014others(44): Show | 47 | HG00408.hp1 HG00642.hp2 HG01258.hp1 others(44): Show |
intron_variant | MODIFIER | c.2993-2367T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 25/26 | chr5 | 78017915 | ||||||
| chr5:78018010
|
C | CA | 5 | a0001c0005t0002g0004a0001c0005t0002g0188a0001c0005t0002g0189others(2): Show | 5 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(2): Show |
intron_variant | MODIFIER | c.2993-2463dupT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 25/26 | chr5 | 78018010 | ||||||
| chr5:78018296
|
A | G | 15 | a0001c0001t0002g0048a0001c0001t0002g0050a0001c0001t0002g0051others(12): Show | 15 | HG01884.hp1 HG01884.hp2 HG02055.hp1 others(12): Show |
intron_variant | MODIFIER | c.2992+2396T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 25/26 | chr5 | 78018296 | ||||||
| chr5:78018347
|
C | T | 2 | a0001c0002t0002g0158a0001c0002t0002g0169 | 2 | HG02135.hp1 NA19002.hp2 |
intron_variant | MODIFIER | c.2992+2345G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 25/26 | chr5 | 78018347 | ||||||
| chr5:78018459
|
TTTTA | T | 31 | a0001c0001t0001g0013a0001c0001t0002g0012a0001c0001t0002g0014others(28): Show | 31 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(28): Show |
intron_variant | MODIFIER | c.2992+2229_2992+223 others(8): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 25/26 | chr5 | 78018459 | ||||||
| chr5:78018488
|
AC | A | 43 | a0001c0001t0002g0097a0001c0001t0002g0112a0001c0001t0002g0115others(40): Show | 43 | HG00280.hp2 HG00558.hp2 HG00597.hp2 others(40): Show |
intron_variant | MODIFIER | c.2992+2203delG | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 25/26 | chr5 | 78018488 | ||||||
| chr5:78018671
|
A | AAC | 14 | a0001c0001t0001g0042a0001c0001t0001g0076a0001c0001t0001g0083others(11): Show | 14 | HG00558.hp1 HG00642.hp1 HG01168.hp2 others(11): Show |
intron_variant | MODIFIER | c.2992+2019_2992+202 others(6): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 25/26 | chr5 | 78018671 | ||||||
| chr5:78018671
|
A | AACAC | 43 | a0001c0001t0001g0013a0001c0001t0002g0012a0001c0001t0002g0014others(40): Show | 43 | HG00408.hp1 HG00642.hp2 HG01346.hp1 others(40): Show |
intron_variant | MODIFIER | c.2992+2017_2992+202 others(8): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 25/26 | chr5 | 78018671 | ||||||
| chr5:78018671
|
A | AACACAC | 14 | a0001c0001t0002g0022a0001c0001t0002g0118a0001c0001t0002g0119others(11): Show | 14 | HG01168.hp1 HG01258.hp1 HG01884.hp1 others(11): Show |
intron_variant | MODIFIER | c.2992+2015_2992+202 others(10): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 25/26 | chr5 | 78018671 | ||||||
| chr5:78018671
|
A | AACACACA others(1): Show |
3 | a0001c0004t0002g0006a0001c0005t0002g0187a0006c0013t0002g0193 | 3 | HG02647.hp2 HG03516.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.2992+2013_2992+202 others(12): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 25/26 | chr5 | 78018671 | ||||||
| chr5:78018671
|
A | C | 3 | a0001c0001t0001g0209a0001c0001t0001g0211a0001c0001t0001g0224 | 3 | HG02135.hp2 NA18970.hp2 NA18979.hp2 |
intron_variant | MODIFIER | c.2992+2021T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 25/26 | chr5 | 78018671 | ||||||
| chr5:78018671
|
AACAC | A | 43 | a0001c0001t0002g0097a0001c0001t0002g0112a0001c0001t0002g0115others(40): Show | 43 | HG00280.hp2 HG00558.hp2 HG00597.hp2 others(40): Show |
intron_variant | MODIFIER | c.2992+2017_2992+202 others(8): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 25/26 | chr5 | 78018671 | ||||||
| chr5:78018689
|
C | G | 3 | a0001c0001t0001g0209a0001c0001t0001g0211a0001c0001t0001g0224 | 3 | HG02135.hp2 NA18970.hp2 NA18979.hp2 |
intron_variant | MODIFIER | c.2992+2003G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 25/26 | chr5 | 78018689 | ||||||
| chr5:78018702
|
C | A | 5 | a0001c0005t0002g0004a0001c0005t0002g0188a0001c0005t0002g0189others(2): Show | 5 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(2): Show |
intron_variant | MODIFIER | c.2992+1990G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 25/26 | chr5 | 78018702 | ||||||
| chr5:78018762
|
G | A | 43 | a0001c0001t0002g0097a0001c0001t0002g0112a0001c0001t0002g0115others(40): Show | 43 | HG00280.hp2 HG00558.hp2 HG00597.hp2 others(40): Show |
intron_variant | MODIFIER | c.2992+1930C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 25/26 | chr5 | 78018762 | ||||||
| chr5:78018950
|
G | A | 1 | a0001c0001t0001g0126 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.2992+1742C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 25/26 | chr5 | 78018950 | ||||||
| chr5:78019007
|
A | C | 2 | a0001c0004t0002g0006a0001c0004t0002g0007 | 2 | HG02809.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.2992+1685T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 25/26 | chr5 | 78019007 | ||||||
| chr5:78019038
|
A | C | 1 | a0001c0005t0002g0004 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.2992+1654T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 25/26 | chr5 | 78019038 | ||||||
| chr5:78019120
|
C | T | 5 | a0001c0005t0002g0004a0001c0005t0002g0188a0001c0005t0002g0189others(2): Show | 5 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(2): Show |
intron_variant | MODIFIER | c.2992+1572G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 25/26 | chr5 | 78019120 | ||||||
| chr5:78019441
|
T | C | 1 | a0001c0002t0002g0146 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.2992+1251A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 25/26 | chr5 | 78019441 | ||||||
| chr5:78019637
|
T | C | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.2992+1055A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 25/26 | chr5 | 78019637 | ||||||
| chr5:78019678
|
A | T | 3 | a0001c0001t0002g0097a0001c0001t0002g0112a0001c0001t0002g0115 | 3 | HG00558.hp2 NA18961.hp1 NA18964.hp2 |
intron_variant | MODIFIER | c.2992+1014T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 25/26 | chr5 | 78019678 | ||||||
| chr5:78019967
|
A | G | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.2992+725T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 25/26 | chr5 | 78019967 | ||||||
| chr5:78019980
|
T | A | 1 | a0001c0004t0002g0226 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.2992+712A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 25/26 | chr5 | 78019980 | ||||||
| chr5:78019985
|
G | A | 1 | a0001c0005t0001g0195 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.2992+707C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 25/26 | chr5 | 78019985 | ||||||
| chr5:78020033
|
C | T | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.2992+659G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 25/26 | chr5 | 78020033 | ||||||
| chr5:78020050
|
G | A | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.2992+642C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 25/26 | chr5 | 78020050 | ||||||
| chr5:78020565
|
T | C | 1 | a0001c0001t0002g0034 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.2992+127A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 25/26 | chr5 | 78020565 | ||||||
| chr5:78020832
|
A | C | 1 | a0002c0003t0001g0046 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.2895-43T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78020832 | ||||||
| chr5:78020898
|
A | G | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.2895-109T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78020898 | ||||||
| chr5:78020994
|
G | A | 1 | a0002c0003t0002g0058 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.2895-205C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78020994 | ||||||
| chr5:78020999
|
T | C | 46 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0029others(43): Show | 46 | HG00099.hp2 HG00558.hp1 HG00639.hp1 others(43): Show |
intron_variant | MODIFIER | c.2895-210A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78020999 | ||||||
| chr5:78021353
|
T | C | 2 | a0001c0001t0001g0167a0001c0001t0003g0121 | 2 | HG02148.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.2895-564A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78021353 | ||||||
| chr5:78021540
|
A | T | 1 | a0001c0002t0002g0177 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.2895-751T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78021540 | ||||||
| chr5:78021579
|
A | G | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.2895-790T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78021579 | ||||||
| chr5:78021625
|
G | T | 12 | a0003c0007t0002g0072a0003c0007t0002g0079a0003c0007t0002g0081others(9): Show | 12 | HG01884.hp1 HG01884.hp2 HG02451.hp2 others(9): Show |
intron_variant | MODIFIER | c.2895-836C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78021625 | ||||||
| chr5:78021939
|
C | T | 1 | a0001c0002t0002g0176 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.2895-1150G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78021939 | ||||||
| chr5:78021982
|
T | G | 2 | a0001c0001t0001g0216a0002c0003t0001g0068 | 2 | NA18972.hp2 NA19063.hp2 |
intron_variant | MODIFIER | c.2895-1193A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78021982 | ||||||
| chr5:78022037
|
C | T | 1 | a0001c0004t0002g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.2895-1248G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78022037 | ||||||
| chr5:78022165
|
C | A | 30 | a0001c0001t0001g0013a0001c0001t0002g0012a0001c0001t0002g0014others(27): Show | 30 | HG01258.hp1 HG01346.hp1 HG01928.hp2 others(27): Show |
intron_variant | MODIFIER | c.2895-1376G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78022165 | ||||||
| chr5:78022356
|
A | T | 1 | a0001c0002t0002g0177 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.2895-1567T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78022356 | ||||||
| chr5:78022432
|
G | T | 1 | a0001c0005t0002g0188 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.2895-1643C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78022432 | ||||||
| chr5:78022520
|
T | C | 44 | a0001c0001t0002g0097a0001c0001t0002g0112a0001c0001t0002g0115others(41): Show | 44 | HG00280.hp2 HG00558.hp2 HG00597.hp2 others(41): Show |
intron_variant | MODIFIER | c.2895-1731A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78022520 | ||||||
| chr5:78022712
|
A | C | 1 | a0003c0007t0002g0072 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.2895-1923T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78022712 | ||||||
| chr5:78022752
|
T | C | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.2895-1963A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78022752 | ||||||
| chr5:78022787
|
A | G | 1 | a0001c0002t0001g0184 | 1 | NA18978.hp2 | intron_variant | MODIFIER | c.2895-1998T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78022787 | ||||||
| chr5:78022819
|
G | C | 107 | a0001c0001t0001g0013a0001c0001t0002g0011a0001c0001t0002g0012others(104): Show | 107 | HG00280.hp2 HG00558.hp2 HG00597.hp2 others(104): Show |
intron_variant | MODIFIER | c.2895-2030C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78022819 | ||||||
| chr5:78022871
|
C | T | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.2895-2082G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78022871 | ||||||
| chr5:78023011
|
T | C | 30 | a0001c0001t0001g0013a0001c0001t0002g0012a0001c0001t0002g0014others(27): Show | 30 | HG01258.hp1 HG01346.hp1 HG01928.hp2 others(27): Show |
intron_variant | MODIFIER | c.2895-2222A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78023011 | ||||||
| chr5:78023336
|
G | T | 1 | a0002c0003t0001g0073 | 1 | NA19074.hp2 | intron_variant | MODIFIER | c.2895-2547C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78023336 | ||||||
| chr5:78023423
|
T | C | 1 | a0001c0001t0002g0051 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.2895-2634A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78023423 | ||||||
| chr5:78023439
|
C | CAAGAA | 48 | a0001c0001t0001g0225a0001c0001t0002g0097a0001c0001t0002g0112others(45): Show | 48 | HG00280.hp2 HG00558.hp2 HG00735.hp1 others(45): Show |
intron_variant | MODIFIER | c.2895-2655_2895-265 others(9): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78023439 | ||||||
| chr5:78023439
|
C | CAAGAAAA others(3): Show |
34 | a0001c0001t0001g0013a0001c0001t0002g0012a0001c0001t0002g0014others(31): Show | 34 | HG00597.hp2 HG01168.hp1 HG01258.hp1 others(31): Show |
intron_variant | MODIFIER | c.2895-2660_2895-265 others(14): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78023439 | ||||||
| chr5:78023439
|
C | CAAGAAAA others(8): Show |
5 | a0001c0001t0002g0016a0001c0004t0002g0007a0001c0004t0002g0085others(2): Show | 5 | HG02055.hp2 HG02071.hp2 HG02809.hp2 others(2): Show |
intron_variant | MODIFIER | c.2895-2665_2895-265 others(19): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78023439 | ||||||
| chr5:78023439
|
CAAGAA | C | 2 | a0002c0003t0001g0010a0002c0003t0001g0070 | 2 | HG03834.hp1 HG04199.hp1 |
intron_variant | MODIFIER | c.2895-2655_2895-265 others(9): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78023439 | ||||||
| chr5:78023439
|
CAAGAAAA others(3): Show |
C | 1 | a0001c0001t0002g0011 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.2895-2660_2895-265 others(14): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78023439 | ||||||
| chr5:78023439
|
CAAGAAAA others(8): Show |
C | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.2895-2665_2895-265 others(19): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78023439 | ||||||
| chr5:78023623
|
T | A | 2 | a0001c0001t0001g0106a0001c0001t0001g0109 | 2 | HG01515.hp2 HG02109.hp1 |
intron_variant | MODIFIER | c.2895-2834A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78023623 | ||||||
| chr5:78023707
|
C | T | 33 | a0001c0001t0001g0029a0001c0001t0001g0042a0001c0001t0001g0083others(30): Show | 33 | HG00099.hp2 HG00558.hp1 HG00639.hp1 others(30): Show |
intron_variant | MODIFIER | c.2895-2918G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78023707 | ||||||
| chr5:78023708
|
G | A | 7 | a0001c0001t0001g0095a0001c0001t0001g0098a0001c0001t0001g0099others(4): Show | 7 | HG01496.hp2 HG01943.hp1 HG01993.hp1 others(4): Show |
intron_variant | MODIFIER | c.2895-2919C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78023708 | ||||||
| chr5:78023782
|
T | C | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.2895-2993A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78023782 | ||||||
| chr5:78023818
|
T | G | 2 | a0001c0005t0002g0004a0001c0005t0002g0190 | 2 | HG02055.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.2895-3029A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78023818 | ||||||
| chr5:78023834
|
A | G | 15 | a0001c0001t0002g0048a0001c0001t0002g0050a0001c0001t0002g0051others(12): Show | 15 | HG01884.hp1 HG01884.hp2 HG02055.hp1 others(12): Show |
intron_variant | MODIFIER | c.2895-3045T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78023834 | ||||||
| chr5:78023839
|
G | A | 1 | a0006c0013t0002g0193 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.2895-3050C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78023839 | ||||||
| chr5:78024234
|
C | T | 91 | a0001c0001t0001g0013a0001c0001t0002g0011a0001c0001t0002g0012others(88): Show | 91 | HG00280.hp2 HG00558.hp2 HG00597.hp2 others(88): Show |
intron_variant | MODIFIER | c.2895-3445G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78024234 | ||||||
| chr5:78024330
|
A | G | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.2895-3541T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78024330 | ||||||
| chr5:78024353
|
C | T | 1 | a0002c0003t0001g0062 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.2895-3564G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78024353 | ||||||
| chr5:78024520
|
G | A | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.2895-3731C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78024520 | ||||||
| chr5:78024561
|
A | AT | 17 | a0001c0001t0001g0042a0001c0001t0001g0110a0001c0001t0002g0011others(14): Show | 17 | HG01070.hp1 HG01358.hp1 HG01496.hp1 others(14): Show |
intron_variant | MODIFIER | c.2895-3773dupA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78024561 | ||||||
| chr5:78024561
|
A | ATT | 31 | a0001c0001t0002g0097a0001c0001t0002g0112a0001c0001t0002g0115others(28): Show | 31 | HG00280.hp2 HG00558.hp2 HG00597.hp2 others(28): Show |
intron_variant | MODIFIER | c.2895-3774_2895-377 others(6): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78024561 | ||||||
| chr5:78024561
|
A | ATTT | 10 | a0001c0002t0002g0130a0001c0002t0002g0131a0001c0002t0002g0156others(7): Show | 10 | HG00735.hp1 HG01175.hp1 HG01361.hp2 others(7): Show |
intron_variant | MODIFIER | c.2895-3775_2895-377 others(7): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78024561 | ||||||
| chr5:78024561
|
AT | A | 39 | a0001c0001t0001g0013a0001c0001t0001g0197a0001c0001t0001g0198others(36): Show | 39 | HG00642.hp2 HG01168.hp2 HG01258.hp1 others(36): Show |
intron_variant | MODIFIER | c.2895-3773delA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78024561 | ||||||
| chr5:78024603
|
C | T | 43 | a0001c0001t0002g0097a0001c0001t0002g0112a0001c0001t0002g0115others(40): Show | 43 | HG00280.hp2 HG00558.hp2 HG00597.hp2 others(40): Show |
intron_variant | MODIFIER | c.2895-3814G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78024603 | ||||||
| chr5:78024651
|
A | G | 2 | a0001c0001t0002g0011a0001c0004t0001g0087 | 2 | HG01496.hp1 HG02809.hp1 |
intron_variant | MODIFIER | c.2895-3862T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78024651 | ||||||
| chr5:78024786
|
C | T | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.2895-3997G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78024786 | ||||||
| chr5:78024843
|
G | A | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.2895-4054C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78024843 | ||||||
| chr5:78024862
|
C | CT | 23 | a0001c0001t0001g0009a0001c0001t0001g0082a0001c0001t0001g0099others(20): Show | 23 | HG00639.hp1 HG00639.hp2 HG00642.hp2 others(20): Show |
intron_variant | MODIFIER | c.2895-4074dupA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78024862 | ||||||
| chr5:78024862
|
CT | C | 39 | a0001c0001t0002g0097a0001c0001t0002g0112a0001c0002t0001g0180others(36): Show | 39 | HG00280.hp2 HG00558.hp2 HG00597.hp2 others(36): Show |
intron_variant | MODIFIER | c.2895-4074delA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78024862 | ||||||
| chr5:78025109
|
A | C | 4 | a0001c0002t0002g0150a0001c0002t0002g0151a0001c0002t0002g0170others(1): Show | 4 | NA18947.hp1 NA18990.hp2 NA18992.hp1 others(1): Show |
intron_variant | MODIFIER | c.2895-4320T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78025109 | ||||||
| chr5:78025111
|
A | G | 9 | a0001c0002t0002g0130a0001c0002t0002g0131a0001c0002t0002g0156others(6): Show | 9 | HG00735.hp1 HG01175.hp1 HG01361.hp2 others(6): Show |
intron_variant | MODIFIER | c.2895-4322T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78025111 | ||||||
| chr5:78025159
|
A | G | 108 | a0001c0001t0001g0013a0001c0001t0002g0011a0001c0001t0002g0012others(105): Show | 108 | HG00280.hp2 HG00558.hp2 HG00597.hp2 others(105): Show |
intron_variant | MODIFIER | c.2895-4370T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78025159 | ||||||
| chr5:78025274
|
T | C | 4 | a0001c0001t0002g0025a0001c0001t0002g0026a0001c0001t0002g0027others(1): Show | 4 | NA18972.hp1 NA18973.hp1 NA18998.hp2 others(1): Show |
intron_variant | MODIFIER | c.2895-4485A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78025274 | ||||||
| chr5:78025413
|
C | A | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.2895-4624G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78025413 | ||||||
| chr5:78025486
|
G | A | 29 | a0001c0001t0001g0013a0001c0001t0002g0012a0001c0001t0002g0014others(26): Show | 29 | HG01258.hp1 HG01346.hp1 HG01928.hp2 others(26): Show |
intron_variant | MODIFIER | c.2895-4697C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78025486 | ||||||
| chr5:78025585
|
C | A | 5 | a0001c0001t0002g0012a0001c0001t0002g0018a0001c0001t0002g0020others(2): Show | 5 | NA18747.hp1 NA18961.hp2 NA18988.hp1 others(2): Show |
intron_variant | MODIFIER | c.2895-4796G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78025585 | ||||||
| chr5:78026018
|
C | G | 43 | a0001c0001t0002g0097a0001c0001t0002g0112a0001c0001t0002g0115others(40): Show | 43 | HG00280.hp2 HG00558.hp2 HG00597.hp2 others(40): Show |
intron_variant | MODIFIER | c.2895-5229G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78026018 | ||||||
| chr5:78026256
|
C | T | 1 | a0001c0001t0001g0095 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.2895-5467G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78026256 | ||||||
| chr5:78026491
|
A | C | 1 | a0001c0002t0002g0174 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.2895-5702T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78026491 | ||||||
| chr5:78026617
|
T | C | 50 | a0001c0001t0002g0097a0001c0001t0002g0112a0001c0001t0002g0115others(47): Show | 50 | HG00280.hp2 HG00558.hp2 HG00597.hp2 others(47): Show |
intron_variant | MODIFIER | c.2895-5828A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78026617 | ||||||
| chr5:78026681
|
T | A | 106 | a0001c0001t0001g0013a0001c0001t0002g0011a0001c0001t0002g0012others(103): Show | 106 | HG00280.hp2 HG00558.hp2 HG00597.hp2 others(103): Show |
intron_variant | MODIFIER | c.2895-5892A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78026681 | ||||||
| chr5:78026936
|
C | A | 1 | a0006c0013t0002g0193 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.2895-6147G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78026936 | ||||||
| chr5:78027101
|
A | T | 3 | a0001c0004t0002g0085a0001c0005t0002g0187a0006c0013t0002g0193 | 3 | HG02647.hp2 HG03471.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.2895-6312T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78027101 | ||||||
| chr5:78027198
|
C | T | 43 | a0001c0001t0002g0097a0001c0001t0002g0112a0001c0001t0002g0115others(40): Show | 43 | HG00280.hp2 HG00558.hp2 HG00597.hp2 others(40): Show |
intron_variant | MODIFIER | c.2895-6409G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78027198 | ||||||
| chr5:78027314
|
C | T | 1 | a0001c0001t0001g0096 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.2895-6525G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78027314 | ||||||
| chr5:78027334
|
G | A | 224 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(221): Show | 224 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(221): Show |
intron_variant | MODIFIER | c.2895-6545C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78027334 | ||||||
| chr5:78027347
|
G | A | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.2895-6558C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78027347 | ||||||
| chr5:78027434
|
C | T | 103 | a0001c0001t0001g0013a0001c0001t0002g0011a0001c0001t0002g0012others(100): Show | 103 | HG00280.hp2 HG00558.hp2 HG00597.hp2 others(100): Show |
intron_variant | MODIFIER | c.2895-6645G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78027434 | ||||||
| chr5:78027450
|
T | A | 1 | a0001c0001t0002g0016 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.2895-6661A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78027450 | ||||||
| chr5:78027474
|
T | A | 2 | a0001c0001t0001g0208a0001c0001t0001g0222 | 2 | NA18950.hp2 NA18952.hp2 |
intron_variant | MODIFIER | c.2895-6685A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78027474 | ||||||
| chr5:78027649
|
A | T | 1 | a0001c0001t0001g0173 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.2894+6712T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78027649 | ||||||
| chr5:78027735
|
G | A | 1 | a0001c0002t0002g0143 | 1 | NA18987.hp2 | intron_variant | MODIFIER | c.2894+6626C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78027735 | ||||||
| chr5:78027878
|
C | T | 1 | a0001c0005t0002g0189 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.2894+6483G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78027878 | ||||||
| chr5:78027995
|
G | A | 5 | a0001c0005t0002g0004a0001c0005t0002g0188a0001c0005t0002g0189others(2): Show | 5 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(2): Show |
intron_variant | MODIFIER | c.2894+6366C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78027995 | ||||||
| chr5:78028063
|
T | C | 28 | a0001c0001t0001g0013a0001c0001t0002g0012a0001c0001t0002g0014others(25): Show | 28 | HG01258.hp1 HG01346.hp1 HG01928.hp2 others(25): Show |
intron_variant | MODIFIER | c.2894+6298A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78028063 | ||||||
| chr5:78028169
|
T | C | 1 | a0001c0001t0001g0209 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.2894+6192A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78028169 | ||||||
| chr5:78028220
|
T | TG | 106 | a0001c0001t0001g0013a0001c0001t0002g0011a0001c0001t0002g0012others(103): Show | 106 | HG00280.hp2 HG00558.hp2 HG00597.hp2 others(103): Show |
intron_variant | MODIFIER | c.2894+6140dupC | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78028220 | ||||||
| chr5:78028242
|
G | A | 2 | a0001c0001t0002g0011a0007c0014t0002g0196 | 2 | HG01496.hp1 HG02723.hp1 |
intron_variant | MODIFIER | c.2894+6119C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78028242 | ||||||
| chr5:78028331
|
G | A | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.2894+6030C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78028331 | ||||||
| chr5:78028385
|
A | T | 33 | a0001c0001t0001g0029a0001c0001t0001g0042a0001c0001t0001g0083others(30): Show | 33 | HG00099.hp2 HG00558.hp1 HG00639.hp1 others(30): Show |
intron_variant | MODIFIER | c.2894+5976T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78028385 | ||||||
| chr5:78028447
|
C | CA | 17 | a0001c0001t0001g0095a0001c0001t0001g0096a0001c0001t0001g0098others(14): Show | 17 | HG01175.hp2 HG01496.hp2 HG01515.hp1 others(14): Show |
intron_variant | MODIFIER | c.2894+5913dupT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78028447 | ||||||
| chr5:78028447
|
CA | C | 17 | a0001c0001t0002g0048a0001c0001t0002g0050a0001c0001t0002g0051others(14): Show | 17 | HG01070.hp1 HG01884.hp1 HG01884.hp2 others(14): Show |
intron_variant | MODIFIER | c.2894+5913delT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78028447 | ||||||
| chr5:78028474
|
T | C | 1 | a0001c0002t0002g0169 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.2894+5887A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78028474 | ||||||
| chr5:78028931
|
A | G | 5 | a0001c0005t0002g0004a0001c0005t0002g0188a0001c0005t0002g0189others(2): Show | 5 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(2): Show |
intron_variant | MODIFIER | c.2894+5430T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78028931 | ||||||
| chr5:78029165
|
T | A | 2 | a0001c0002t0002g0152a0001c0002t0002g0153 | 2 | HG03654.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.2894+5196A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78029165 | ||||||
| chr5:78029386
|
T | TAC | 15 | a0001c0001t0002g0048a0001c0001t0002g0050a0001c0001t0002g0051others(12): Show | 15 | HG01884.hp1 HG01884.hp2 HG02055.hp1 others(12): Show |
intron_variant | MODIFIER | c.2894+4973_2894+497 others(6): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78029386 | ||||||
| chr5:78029402
|
C | T | 1 | a0001c0001t0001g0109 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.2894+4959G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78029402 | ||||||
| chr5:78029483
|
T | C | 1 | a0006c0013t0002g0193 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.2894+4878A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78029483 | ||||||
| chr5:78029519
|
T | C | 43 | a0001c0001t0002g0097a0001c0001t0002g0112a0001c0001t0002g0115others(40): Show | 43 | HG00280.hp2 HG00558.hp2 HG00597.hp2 others(40): Show |
intron_variant | MODIFIER | c.2894+4842A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78029519 | ||||||
| chr5:78029528
|
A | AT | 106 | a0001c0001t0001g0013a0001c0001t0002g0011a0001c0001t0002g0012others(103): Show | 106 | HG00280.hp2 HG00558.hp2 HG00597.hp2 others(103): Show |
intron_variant | MODIFIER | c.2894+4832dupA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78029528 | ||||||
| chr5:78029565
|
G | A | 1 | a0001c0004t0002g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.2894+4796C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78029565 | ||||||
| chr5:78029621
|
T | C | 1 | a0001c0001t0002g0017 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.2894+4740A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78029621 | ||||||
| chr5:78029919
|
A | G | 2 | a0001c0002t0002g0158a0001c0002t0002g0169 | 2 | HG02135.hp1 NA19002.hp2 |
intron_variant | MODIFIER | c.2894+4442T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78029919 | ||||||
| chr5:78029986
|
G | A | 1 | a0001c0001t0001g0205 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.2894+4375C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78029986 | ||||||
| chr5:78030079
|
C | T | 1 | a0001c0004t0002g0226 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.2894+4282G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78030079 | ||||||
| chr5:78030244
|
C | G | 3 | a0001c0004t0002g0001a0001c0004t0002g0002a0001c0004t0002g0003 | 3 | HG02615.hp2 HG03453.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.2894+4117G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78030244 | ||||||
| chr5:78030531
|
T | G | 1 | a0001c0001t0001g0225 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.2894+3830A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78030531 | ||||||
| chr5:78030703
|
G | T | 28 | a0001c0001t0001g0013a0001c0001t0002g0012a0001c0001t0002g0014others(25): Show | 28 | HG01258.hp1 HG01346.hp1 HG01928.hp2 others(25): Show |
intron_variant | MODIFIER | c.2894+3658C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78030703 | ||||||
| chr5:78030789
|
A | G | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.2894+3572T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78030789 | ||||||
| chr5:78030859
|
G | A | 1 | a0001c0002t0002g0064 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.2894+3502C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78030859 | ||||||
| chr5:78031347
|
C | T | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.2894+3014G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78031347 | ||||||
| chr5:78031464
|
C | T | 1 | a0001c0001t0002g0159 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.2894+2897G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78031464 | ||||||
| chr5:78031498
|
C | T | 3 | a0001c0001t0002g0097a0001c0001t0002g0112a0001c0001t0002g0115 | 3 | HG00558.hp2 NA18961.hp1 NA18964.hp2 |
intron_variant | MODIFIER | c.2894+2863G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78031498 | ||||||
| chr5:78031532
|
C | T | 1 | a0005c0015t0001g0105 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.2894+2829G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78031532 | ||||||
| chr5:78031563
|
A | C | 1 | a0001c0001t0001g0217 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.2894+2798T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78031563 | ||||||
| chr5:78031595
|
T | C | 1 | a0002c0003t0001g0067 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.2894+2766A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78031595 | ||||||
| chr5:78031659
|
CT | C | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.2894+2701delA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78031659 | ||||||
| chr5:78031711
|
C | T | 1 | a0001c0005t0002g0189 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.2894+2650G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78031711 | ||||||
| chr5:78031904
|
C | T | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.2894+2457G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78031904 | ||||||
| chr5:78031911
|
G | C | 1 | a0001c0004t0002g0226 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.2894+2450C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78031911 | ||||||
| chr5:78032199
|
C | T | 1 | a0001c0001t0002g0028 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.2894+2162G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78032199 | ||||||
| chr5:78032312
|
A | G | 42 | a0001c0001t0002g0097a0001c0001t0002g0112a0001c0001t0002g0115others(39): Show | 42 | HG00280.hp2 HG00558.hp2 HG00597.hp2 others(39): Show |
intron_variant | MODIFIER | c.2894+2049T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78032312 | ||||||
| chr5:78032618
|
G | A | 1 | a0001c0002t0002g0166 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.2894+1743C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78032618 | ||||||
| chr5:78032717
|
G | A | 4 | a0001c0001t0002g0093a0001c0001t0002g0117a0001c0001t0002g0118others(1): Show | 4 | HG01258.hp1 HG01346.hp1 HG01934.hp1 others(1): Show |
intron_variant | MODIFIER | c.2894+1644C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78032717 | ||||||
| chr5:78033001
|
T | C | 1 | a0001c0002t0002g0146 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.2894+1360A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78033001 | ||||||
| chr5:78033114
|
C | A | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.2894+1247G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78033114 | ||||||
| chr5:78033272
|
T | C | 16 | a0001c0001t0002g0048a0001c0001t0002g0050a0001c0001t0002g0051others(13): Show | 16 | HG01884.hp1 HG01884.hp2 HG02055.hp1 others(13): Show |
intron_variant | MODIFIER | c.2894+1089A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78033272 | ||||||
| chr5:78033314
|
A | C | 1 | a0001c0004t0001g0005 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.2894+1047T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78033314 | ||||||
| chr5:78033360
|
C | G | 1 | a0001c0001t0001g0098 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.2894+1001G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78033360 | ||||||
| chr5:78033405
|
G | A | 18 | a0001c0004t0001g0077a0001c0004t0001g0087a0001c0004t0002g0001others(15): Show | 18 | HG00642.hp2 HG01168.hp1 HG02055.hp2 others(15): Show |
intron_variant | MODIFIER | c.2894+956C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78033405 | ||||||
| chr5:78033703
|
T | A | 89 | a0001c0001t0001g0013a0001c0001t0002g0012a0001c0001t0002g0014others(86): Show | 89 | HG00280.hp2 HG00558.hp2 HG00597.hp2 others(86): Show |
intron_variant | MODIFIER | c.2894+658A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78033703 | ||||||
| chr5:78033848
|
T | C | 1 | a0001c0001t0001g0173 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.2894+513A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78033848 | ||||||
| chr5:78033887
|
G | GA | 41 | a0001c0001t0002g0097a0001c0001t0002g0112a0001c0001t0002g0115others(38): Show | 41 | HG00280.hp2 HG00558.hp2 HG00597.hp2 others(38): Show |
intron_variant | MODIFIER | c.2894+473dupT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78033887 | ||||||
| chr5:78033915
|
C | G | 1 | a0001c0001t0002g0011 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.2894+446G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | 78033915 | ||||||
| chr5:78034449
|
G | A | 3 | a0001c0004t0002g0001a0001c0004t0002g0002a0001c0004t0002g0003 | 3 | HG02615.hp2 HG03453.hp1 HG03540.hp2 |
splice_region_variant&intron_variant | LOW | c.2810-4C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 23/26 | chr5 | 78034449 | ||||||
| chr5:78034672
|
A | G | 29 | a0001c0001t0001g0013a0001c0001t0002g0012a0001c0001t0002g0014others(26): Show | 29 | HG01258.hp1 HG01346.hp1 HG01928.hp2 others(26): Show |
intron_variant | MODIFIER | c.2810-227T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 23/26 | chr5 | 78034672 | ||||||
| chr5:78034929
|
T | C | 1 | a0002c0003t0001g0062 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.2810-484A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 23/26 | chr5 | 78034929 | ||||||
| chr5:78035151
|
G | A | 2 | a0001c0005t0002g0192a0001c0005t0002g0194 | 2 | HG02451.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.2810-706C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 23/26 | chr5 | 78035151 | ||||||
| chr5:78035258
|
C | A | 1 | a0001c0004t0002g0003 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.2810-813G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 23/26 | chr5 | 78035258 | ||||||
| chr5:78035520
|
C | T | 2 | a0001c0004t0002g0006a0001c0004t0002g0007 | 2 | HG02809.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.2810-1075G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 23/26 | chr5 | 78035520 | ||||||
| chr5:78035598
|
A | C | 6 | a0003c0007t0002g0072a0003c0007t0002g0079a0003c0007t0002g0081others(3): Show | 6 | HG02723.hp2 HG02818.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.2810-1153T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 23/26 | chr5 | 78035598 | ||||||
| chr5:78035778
|
C | T | 42 | a0001c0001t0002g0097a0001c0001t0002g0112a0001c0001t0002g0115others(39): Show | 42 | HG00280.hp2 HG00558.hp2 HG00597.hp2 others(39): Show |
intron_variant | MODIFIER | c.2810-1333G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 23/26 | chr5 | 78035778 | ||||||
| chr5:78035818
|
C | G | 2 | a0001c0002t0002g0158a0001c0002t0002g0169 | 2 | HG02135.hp1 NA19002.hp2 |
intron_variant | MODIFIER | c.2810-1373G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 23/26 | chr5 | 78035818 | ||||||
| chr5:78036020
|
G | A | 13 | a0001c0012t0001g0142a0003c0007t0002g0072a0003c0007t0002g0079others(10): Show | 13 | HG01884.hp1 HG01884.hp2 HG02451.hp2 others(10): Show |
intron_variant | MODIFIER | c.2810-1575C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 23/26 | chr5 | 78036020 | ||||||
| chr5:78036036
|
G | C | 1 | a0001c0004t0002g0226 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.2810-1591C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 23/26 | chr5 | 78036036 | ||||||
| chr5:78036373
|
T | C | 1 | a0001c0002t0002g0158 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.2810-1928A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 23/26 | chr5 | 78036373 | ||||||
| chr5:78036446
|
A | G | 29 | a0001c0001t0001g0013a0001c0001t0002g0012a0001c0001t0002g0014others(26): Show | 29 | HG01258.hp1 HG01346.hp1 HG01928.hp2 others(26): Show |
intron_variant | MODIFIER | c.2810-2001T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 23/26 | chr5 | 78036446 | ||||||
| chr5:78036470
|
A | T | 1 | a0001c0004t0002g0002 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.2810-2025T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 23/26 | chr5 | 78036470 | ||||||
| chr5:78037524
|
C | T | 1 | a0001c0001t0001g0220 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.2809+1519G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 23/26 | chr5 | 78037524 | ||||||
| chr5:78037534
|
C | G | 1 | a0001c0001t0002g0097 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.2809+1509G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 23/26 | chr5 | 78037534 | ||||||
| chr5:78037648
|
A | G | 1 | a0001c0001t0002g0011 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.2809+1395T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 23/26 | chr5 | 78037648 | ||||||
| chr5:78038062
|
G | C | 7 | a0001c0006t0001g0040a0001c0006t0001g0113a0001c0006t0001g0114others(4): Show | 7 | HG00099.hp1 HG01106.hp2 HG01256.hp2 others(4): Show |
intron_variant | MODIFIER | c.2809+981C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 23/26 | chr5 | 78038062 | ||||||
| chr5:78038215
|
T | A | 1 | a0003c0007t0002g0140 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.2809+828A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 23/26 | chr5 | 78038215 | ||||||
| chr5:78038484
|
A | G | 1 | a0006c0013t0002g0193 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.2809+559T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 23/26 | chr5 | 78038484 | ||||||
| chr5:78038826
|
T | G | 1 | a0001c0005t0002g0188 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.2809+217A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 23/26 | chr5 | 78038826 | ||||||
| chr5:78038923
|
T | C | 3 | a0001c0004t0002g0001a0001c0004t0002g0002a0001c0004t0002g0003 | 3 | HG02615.hp2 HG03453.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.2809+120A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 23/26 | chr5 | 78038923 | ||||||
| chr5:78039472
|
G | A | 15 | a0001c0004t0001g0077a0001c0004t0001g0087a0001c0004t0002g0006others(12): Show | 15 | HG00642.hp2 HG01168.hp1 HG02055.hp2 others(12): Show |
intron_variant | MODIFIER | c.2578-198C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78039472 | ||||||
| chr5:78039493
|
C | T | 20 | a0001c0004t0001g0077a0001c0004t0001g0087a0001c0004t0002g0001others(17): Show | 20 | HG00642.hp2 HG01168.hp1 HG02055.hp2 others(17): Show |
intron_variant | MODIFIER | c.2578-219G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78039493 | ||||||
| chr5:78039524
|
C | A | 1 | a0001c0002t0001g0180 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.2578-250G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78039524 | ||||||
| chr5:78039620
|
T | C | 1 | a0001c0002t0002g0064 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.2578-346A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78039620 | ||||||
| chr5:78039635
|
A | G | 2 | a0001c0002t0002g0158a0001c0002t0002g0169 | 2 | HG02135.hp1 NA19002.hp2 |
intron_variant | MODIFIER | c.2578-361T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78039635 | ||||||
| chr5:78039777
|
C | CA | 9 | a0001c0001t0001g0104a0001c0001t0001g0211a0001c0002t0001g0180others(6): Show | 9 | HG02135.hp2 HG02738.hp2 HG03130.hp2 others(6): Show |
intron_variant | MODIFIER | c.2578-504dupT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78039777 | ||||||
| chr5:78039779
|
AAAAAAAA others(12): Show |
A | 1 | a0002c0003t0001g0045 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.2578-524_2578-506d others(21): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78039779 | ||||||
| chr5:78039788
|
A | G | 1 | a0001c0001t0001g0224 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.2578-514T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78039788 | ||||||
| chr5:78039792
|
AG | A | 17 | a0001c0004t0001g0087a0001c0004t0002g0001a0001c0004t0002g0002others(14): Show | 17 | HG00642.hp2 HG01168.hp1 HG02451.hp1 others(14): Show |
intron_variant | MODIFIER | c.2578-519delC | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78039792 | ||||||
| chr5:78039793
|
G | A | 50 | a0001c0001t0002g0011a0001c0001t0002g0097a0001c0001t0002g0112others(47): Show | 50 | HG00280.hp2 HG00558.hp2 HG00597.hp2 others(47): Show |
intron_variant | MODIFIER | c.2578-519C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78039793 | ||||||
| chr5:78039798
|
G | A | 1 | a0001c0004t0002g0186 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.2578-524C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78039798 | ||||||
| chr5:78039803
|
G | A | 1 | a0001c0001t0002g0011 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.2578-529C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78039803 | ||||||
| chr5:78039863
|
A | AT | 9 | a0001c0001t0001g0008a0001c0001t0001g0032a0001c0001t0001g0147others(6): Show | 9 | HG02280.hp1 HG02615.hp1 HG02809.hp2 others(6): Show |
intron_variant | MODIFIER | c.2578-590dupA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78039863 | ||||||
| chr5:78039885
|
G | A | 9 | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0001g0199others(6): Show | 9 | HG00099.hp2 HG00639.hp1 HG00639.hp2 others(6): Show |
intron_variant | MODIFIER | c.2578-611C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78039885 | ||||||
| chr5:78040278
|
G | T | 1 | a0001c0004t0002g0186 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.2578-1004C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78040278 | ||||||
| chr5:78040419
|
C | A | 1 | a0001c0001t0001g0221 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.2578-1145G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78040419 | ||||||
| chr5:78040469
|
C | T | 1 | a0001c0002t0002g0158 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.2578-1195G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78040469 | ||||||
| chr5:78040470
|
G | C | 14 | a0001c0004t0002g0186a0001c0012t0001g0142a0003c0007t0002g0072others(11): Show | 14 | HG01884.hp1 HG01884.hp2 HG02451.hp2 others(11): Show |
intron_variant | MODIFIER | c.2578-1196C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78040470 | ||||||
| chr5:78040533
|
T | A | 1 | a0001c0002t0001g0180 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.2578-1259A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78040533 | ||||||
| chr5:78040551
|
C | G | 1 | a0001c0004t0002g0186 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.2578-1277G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78040551 | ||||||
| chr5:78040752
|
C | A | 109 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(106): Show | 109 | HG00280.hp2 HG00558.hp2 HG00597.hp2 others(106): Show |
intron_variant | MODIFIER | c.2578-1478G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78040752 | ||||||
| chr5:78040841
|
T | C | 1 | a0001c0002t0002g0158 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.2578-1567A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78040841 | ||||||
| chr5:78041206
|
G | A | 1 | a0001c0002t0002g0158 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.2578-1932C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78041206 | ||||||
| chr5:78041274
|
C | CA | 45 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(42): Show | 45 | HG01168.hp1 HG01258.hp1 HG01346.hp1 others(42): Show |
intron_variant | MODIFIER | c.2578-2001dupT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78041274 | ||||||
| chr5:78041497
|
T | C | 1 | a0001c0004t0002g0186 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.2578-2223A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78041497 | ||||||
| chr5:78041569
|
T | A | 2 | a0001c0002t0002g0158a0001c0004t0001g0077 | 2 | HG02630.hp1 NA19002.hp2 |
intron_variant | MODIFIER | c.2578-2295A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78041569 | ||||||
| chr5:78041735
|
T | A | 1 | a0005c0015t0001g0105 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.2578-2461A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78041735 | ||||||
| chr5:78041828
|
T | C | 3 | a0001c0001t0002g0048a0001c0001t0002g0050a0001c0001t0002g0051 | 3 | HG02055.hp1 HG02258.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.2578-2554A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78041828 | ||||||
| chr5:78041960
|
C | T | 1 | a0001c0002t0002g0169 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.2578-2686G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78041960 | ||||||
| chr5:78041986
|
G | A | 1 | a0002c0003t0001g0080 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.2578-2712C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78041986 | ||||||
| chr5:78042000
|
A | G | 1 | a0001c0002t0002g0155 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.2578-2726T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78042000 | ||||||
| chr5:78042057
|
C | A | 3 | a0001c0001t0001g0075a0001c0001t0001g0082a0001c0001t0001g0126 | 3 | HG00735.hp2 HG02647.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.2578-2783G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78042057 | ||||||
| chr5:78042248
|
A | AT | 16 | a0001c0004t0001g0077a0001c0004t0001g0087a0001c0004t0002g0085others(13): Show | 16 | HG00642.hp2 HG01168.hp1 HG02055.hp2 others(13): Show |
intron_variant | MODIFIER | c.2578-2975dupA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78042248 | ||||||
| chr5:78042251
|
T | TA | 2 | a0001c0004t0002g0006a0001c0004t0002g0007 | 2 | HG02809.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.2578-2978_2578-297 others(5): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78042251 | ||||||
| chr5:78042299
|
G | C | 1 | a0001c0004t0002g0226 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.2578-3025C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78042299 | ||||||
| chr5:78042769
|
A | G | 1 | a0001c0001t0001g0037 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.2578-3495T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78042769 | ||||||
| chr5:78042895
|
C | A | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.2578-3621G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78042895 | ||||||
| chr5:78043160
|
G | C | 1 | a0001c0001t0001g0210 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.2578-3886C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78043160 | ||||||
| chr5:78043277
|
G | A | 43 | a0001c0001t0002g0097a0001c0001t0002g0112a0001c0001t0002g0115others(40): Show | 43 | HG00280.hp2 HG00558.hp2 HG00597.hp2 others(40): Show |
intron_variant | MODIFIER | c.2578-4003C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78043277 | ||||||
| chr5:78043306
|
T | A | 1 | a0001c0004t0002g0226 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.2578-4032A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78043306 | ||||||
| chr5:78043665
|
C | T | 1 | a0001c0001t0001g0091 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.2578-4391G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78043665 | ||||||
| chr5:78043701
|
G | T | 1 | a0001c0001t0001g0042 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.2578-4427C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78043701 | ||||||
| chr5:78043714
|
A | T | 1 | a0001c0004t0002g0226 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.2578-4440T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78043714 | ||||||
| chr5:78043741
|
T | C | 2 | a0001c0001t0002g0011a0001c0004t0002g0186 | 2 | HG01496.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.2578-4467A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78043741 | ||||||
| chr5:78044022
|
G | A | 24 | a0001c0001t0001g0095a0001c0001t0001g0096a0001c0001t0001g0098others(21): Show | 24 | HG00099.hp1 HG01106.hp2 HG01175.hp2 others(21): Show |
intron_variant | MODIFIER | c.2578-4748C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78044022 | ||||||
| chr5:78044190
|
G | A | 5 | a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0002g0048others(2): Show | 5 | HG02055.hp1 HG02258.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2578-4916C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78044190 | ||||||
| chr5:78044229
|
A | G | 1 | a0001c0010t0002g0024 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.2578-4955T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78044229 | ||||||
| chr5:78044832
|
T | C | 1 | a0001c0001t0002g0112 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.2578-5558A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78044832 | ||||||
| chr5:78045059
|
T | C | 1 | a0006c0013t0002g0193 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.2578-5785A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78045059 | ||||||
| chr5:78045199
|
G | C | 16 | a0001c0004t0001g0087a0001c0004t0002g0006a0001c0004t0002g0007others(13): Show | 16 | HG00642.hp2 HG01168.hp1 HG02055.hp2 others(13): Show |
intron_variant | MODIFIER | c.2578-5925C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78045199 | ||||||
| chr5:78045380
|
C | CA | 14 | a0001c0001t0001g0099a0001c0001t0001g0107a0001c0001t0001g0116others(11): Show | 14 | HG00408.hp1 HG00408.hp2 HG01175.hp2 others(11): Show |
intron_variant | MODIFIER | c.2578-6107dupT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78045380 | ||||||
| chr5:78045380
|
CA | C | 6 | a0001c0001t0002g0159a0001c0005t0002g0192a0001c0005t0002g0194others(3): Show | 6 | HG01884.hp1 HG01884.hp2 HG02451.hp1 others(3): Show |
intron_variant | MODIFIER | c.2578-6107delT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78045380 | ||||||
| chr5:78045400
|
A | AC | 5 | a0001c0001t0002g0018a0001c0001t0002g0033a0001c0002t0002g0151others(2): Show | 5 | HG02723.hp1 NA18972.hp1 NA18992.hp1 others(2): Show |
intron_variant | MODIFIER | c.2578-6127dupG | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78045400 | ||||||
| chr5:78045400
|
A | C | 97 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(94): Show | 97 | HG00280.hp2 HG00597.hp2 HG00642.hp2 others(94): Show |
intron_variant | MODIFIER | c.2578-6126T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78045400 | ||||||
| chr5:78045537
|
C | T | 2 | a0001c0004t0001g0077a0001c0004t0002g0226 | 2 | HG02630.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.2578-6263G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78045537 | ||||||
| chr5:78046343
|
C | A | 1 | a0002c0003t0001g0092 | 1 | NA18989.hp2 | intron_variant | MODIFIER | c.2578-7069G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78046343 | ||||||
| chr5:78046371
|
T | C | 1 | a0001c0004t0001g0005 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.2578-7097A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78046371 | ||||||
| chr5:78046608
|
T | C | 1 | a0001c0001t0002g0159 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.2578-7334A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78046608 | ||||||
| chr5:78046610
|
G | T | 1 | a0006c0013t0002g0193 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.2578-7336C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78046610 | ||||||
| chr5:78046690
|
T | C | 1 | a0001c0001t0001g0167 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.2578-7416A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78046690 | ||||||
| chr5:78046704
|
C | CT | 103 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(100): Show | 103 | HG00280.hp2 HG00597.hp2 HG00642.hp2 others(100): Show |
intron_variant | MODIFIER | c.2578-7431dupA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78046704 | ||||||
| chr5:78046711
|
T | C | 2 | a0001c0001t0001g0201a0001c0001t0001g0221 | 2 | HG02735.hp2 HG04228.hp2 |
intron_variant | MODIFIER | c.2578-7437A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78046711 | ||||||
| chr5:78046716
|
A | T | 23 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0147others(20): Show | 23 | HG00642.hp2 HG00741.hp1 HG01168.hp1 others(20): Show |
intron_variant | MODIFIER | c.2578-7442T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78046716 | ||||||
| chr5:78046751
|
G | C | 1 | a0001c0001t0002g0115 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.2578-7477C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78046751 | ||||||
| chr5:78046767
|
T | C | 1 | a0001c0005t0002g0192 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.2578-7493A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78046767 | ||||||
| chr5:78046774
|
A | T | 1 | a0001c0004t0001g0005 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.2578-7500T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78046774 | ||||||
| chr5:78046802
|
A | C | 106 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(103): Show | 106 | HG00280.hp2 HG00597.hp2 HG00642.hp2 others(103): Show |
intron_variant | MODIFIER | c.2578-7528T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78046802 | ||||||
| chr5:78046841
|
T | C | 30 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(27): Show | 30 | HG01258.hp1 HG01346.hp1 HG01928.hp2 others(27): Show |
intron_variant | MODIFIER | c.2578-7567A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78046841 | ||||||
| chr5:78047025
|
A | G | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.2578-7751T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78047025 | ||||||
| chr5:78047076
|
CA | C | 2 | a0001c0004t0001g0077a0001c0004t0002g0226 | 2 | HG02630.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.2578-7803delT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78047076 | ||||||
| chr5:78047101
|
T | C | 1 | a0001c0001t0004g0129 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.2578-7827A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78047101 | ||||||
| chr5:78047164
|
G | A | 2 | a0001c0004t0001g0077a0001c0004t0002g0226 | 2 | HG02630.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.2578-7890C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78047164 | ||||||
| chr5:78047184
|
T | C | 106 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(103): Show | 106 | HG00280.hp2 HG00597.hp2 HG00642.hp2 others(103): Show |
intron_variant | MODIFIER | c.2578-7910A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78047184 | ||||||
| chr5:78047508
|
G | C | 21 | a0001c0004t0001g0087a0001c0004t0002g0006a0001c0004t0002g0007others(18): Show | 21 | HG00642.hp2 HG01168.hp1 HG01884.hp1 others(18): Show |
intron_variant | MODIFIER | c.2578-8234C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78047508 | ||||||
| chr5:78047563
|
T | G | 1 | a0002c0003t0002g0058 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.2578-8289A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78047563 | ||||||
| chr5:78047618
|
A | G | 3 | a0001c0004t0002g0001a0001c0004t0002g0002a0001c0004t0002g0003 | 3 | HG02615.hp2 HG03453.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.2578-8344T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78047618 | ||||||
| chr5:78047672
|
G | A | 1 | a0001c0004t0002g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.2578-8398C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78047672 | ||||||
| chr5:78047863
|
A | G | 4 | a0001c0001t0002g0025a0001c0001t0002g0026a0001c0001t0002g0027others(1): Show | 4 | NA18972.hp1 NA18973.hp1 NA18998.hp2 others(1): Show |
intron_variant | MODIFIER | c.2578-8589T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78047863 | ||||||
| chr5:78047913
|
A | T | 1 | a0001c0001t0001g0217 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.2578-8639T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78047913 | ||||||
| chr5:78048115
|
T | C | 106 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(103): Show | 106 | HG00280.hp2 HG00597.hp2 HG00642.hp2 others(103): Show |
intron_variant | MODIFIER | c.2578-8841A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78048115 | ||||||
| chr5:78048121
|
G | T | 30 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(27): Show | 30 | HG01258.hp1 HG01346.hp1 HG01928.hp2 others(27): Show |
intron_variant | MODIFIER | c.2578-8847C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78048121 | ||||||
| chr5:78048344
|
T | G | 6 | a0001c0005t0001g0195a0001c0005t0002g0004a0001c0005t0002g0188others(3): Show | 6 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(3): Show |
intron_variant | MODIFIER | c.2578-9070A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78048344 | ||||||
| chr5:78048533
|
T | C | 17 | a0001c0004t0001g0087a0001c0004t0002g0006a0001c0004t0002g0007others(14): Show | 17 | HG00642.hp2 HG01168.hp1 HG01884.hp1 others(14): Show |
intron_variant | MODIFIER | c.2578-9259A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78048533 | ||||||
| chr5:78048664
|
G | A | 2 | a0001c0004t0001g0077a0001c0004t0002g0226 | 2 | HG02630.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.2578-9390C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78048664 | ||||||
| chr5:78048731
|
T | C | 10 | a0001c0004t0001g0087a0001c0004t0002g0085a0001c0005t0001g0195others(7): Show | 10 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(7): Show |
intron_variant | MODIFIER | c.2578-9457A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78048731 | ||||||
| chr5:78048755
|
T | C | 30 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(27): Show | 30 | HG01258.hp1 HG01346.hp1 HG01928.hp2 others(27): Show |
intron_variant | MODIFIER | c.2578-9481A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78048755 | ||||||
| chr5:78048919
|
C | G | 103 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(100): Show | 103 | HG00280.hp2 HG00597.hp2 HG00642.hp2 others(100): Show |
intron_variant | MODIFIER | c.2578-9645G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78048919 | ||||||
| chr5:78048971
|
A | G | 1 | a0001c0002t0001g0184 | 1 | NA18978.hp2 | intron_variant | MODIFIER | c.2578-9697T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78048971 | ||||||
| chr5:78049125
|
C | T | 2 | a0001c0004t0001g0077a0001c0004t0002g0226 | 2 | HG02630.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.2578-9851G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78049125 | ||||||
| chr5:78049166
|
C | T | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.2578-9892G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78049166 | ||||||
| chr5:78049202
|
C | A | 1 | a0001c0004t0002g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.2578-9928G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78049202 | ||||||
| chr5:78049223
|
T | C | 1 | a0001c0004t0001g0005 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.2578-9949A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78049223 | ||||||
| chr5:78049296
|
C | T | 1 | a0001c0002t0002g0131 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.2578-10022G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78049296 | ||||||
| chr5:78049382
|
C | A | 1 | a0001c0001t0001g0225 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.2578-10108G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78049382 | ||||||
| chr5:78049418
|
C | T | 2 | a0001c0001t0001g0037a0001c0001t0001g0161 | 2 | HG03139.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.2578-10144G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78049418 | ||||||
| chr5:78049822
|
C | T | 1 | a0001c0001t0002g0017 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.2578-10548G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78049822 | ||||||
| chr5:78050187
|
C | T | 40 | a0001c0002t0001g0180a0001c0002t0001g0181a0001c0002t0001g0182others(37): Show | 40 | HG00280.hp2 HG00597.hp2 HG00735.hp1 others(37): Show |
intron_variant | MODIFIER | c.2578-10913G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78050187 | ||||||
| chr5:78050223
|
T | A | 1 | a0001c0001t0001g0217 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.2578-10949A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78050223 | ||||||
| chr5:78050492
|
T | TAAAAATA others(2539): Show |
1 | a0003c0009t0002g0074 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2578-11219_2578-11 others(2552): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78050492 | ||||||
| chr5:78050492
|
T | TAAAAATA others(2541): Show |
1 | a0003c0009t0002g0078 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.2578-11219_2578-11 others(2554): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78050492 | ||||||
| chr5:78050630
|
A | G | 2 | a0002c0003t0001g0044a0002c0003t0001g0056 | 2 | NA18969.hp2 NA18995.hp2 |
intron_variant | MODIFIER | c.2578-11356T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78050630 | ||||||
| chr5:78050844
|
T | C | 107 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(104): Show | 107 | HG00280.hp2 HG00597.hp2 HG00642.hp2 others(104): Show |
intron_variant | MODIFIER | c.2578-11570A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78050844 | ||||||
| chr5:78050907
|
C | T | 1 | a0001c0005t0002g0187 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.2578-11633G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78050907 | ||||||
| chr5:78051048
|
C | T | 2 | a0001c0004t0002g0186a0007c0014t0002g0196 | 2 | HG02723.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.2578-11774G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78051048 | ||||||
| chr5:78051116
|
C | T | 102 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(99): Show | 102 | HG00280.hp2 HG00597.hp2 HG00642.hp2 others(99): Show |
intron_variant | MODIFIER | c.2578-11842G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78051116 | ||||||
| chr5:78051421
|
C | CT | 107 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(104): Show | 107 | HG00280.hp2 HG00597.hp2 HG00642.hp2 others(104): Show |
intron_variant | MODIFIER | c.2578-12148dupA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78051421 | ||||||
| chr5:78051866
|
A | G | 1 | a0001c0004t0002g0226 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.2578-12592T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78051866 | ||||||
| chr5:78051914
|
G | T | 1 | a0001c0001t0002g0014 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.2578-12640C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78051914 | ||||||
| chr5:78051963
|
C | T | 2 | a0001c0004t0001g0077a0001c0004t0002g0226 | 2 | HG02630.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.2578-12689G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78051963 | ||||||
| chr5:78051966
|
TCAATCCA others(88): Show |
T | 2 | a0001c0004t0001g0077a0001c0004t0002g0226 | 2 | HG02630.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.2578-12787_2578-12 others(101): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78051966 | ||||||
| chr5:78051994
|
AC | A | 3 | a0001c0001t0002g0048a0001c0001t0002g0050a0001c0001t0002g0051 | 3 | HG02055.hp1 HG02258.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.2578-12721delG | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78051994 | ||||||
| chr5:78052015
|
G | A | 31 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(28): Show | 31 | HG01258.hp1 HG01346.hp1 HG01928.hp2 others(28): Show |
intron_variant | MODIFIER | c.2578-12741C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78052015 | ||||||
| chr5:78052032
|
C | G | 105 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(102): Show | 105 | HG00280.hp2 HG00597.hp2 HG00642.hp2 others(102): Show |
intron_variant | MODIFIER | c.2578-12758G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78052032 | ||||||
| chr5:78052062
|
C | A | 31 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(28): Show | 31 | HG01258.hp1 HG01346.hp1 HG01928.hp2 others(28): Show |
intron_variant | MODIFIER | c.2578-12788G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78052062 | ||||||
| chr5:78052096
|
C | G | 32 | a0001c0001t0002g0011a0001c0001t0002g0048a0001c0001t0002g0050others(29): Show | 32 | HG00642.hp2 HG01168.hp1 HG01496.hp1 others(29): Show |
intron_variant | MODIFIER | c.2578-12822G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78052096 | ||||||
| chr5:78052128
|
C | T | 1 | a0001c0001t0002g0033 | 1 | NA18972.hp1 | intron_variant | MODIFIER | c.2578-12854G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78052128 | ||||||
| chr5:78052189
|
ATATTT | A | 2 | a0001c0001t0002g0026a0001c0001t0002g0027 | 2 | NA18998.hp2 NA19057.hp2 |
intron_variant | MODIFIER | c.2578-12920_2578-12 others(11): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78052189 | ||||||
| chr5:78052290
|
G | T | 185 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(182): Show | 185 | HG00099.hp2 HG00280.hp2 HG00558.hp1 others(182): Show |
intron_variant | MODIFIER | c.2578-13016C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78052290 | ||||||
| chr5:78052353
|
C | A | 32 | a0001c0001t0002g0011a0001c0001t0002g0048a0001c0001t0002g0050others(29): Show | 32 | HG00642.hp2 HG01168.hp1 HG01496.hp1 others(29): Show |
intron_variant | MODIFIER | c.2578-13079G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78052353 | ||||||
| chr5:78052394
|
A | G | 15 | a0001c0001t0002g0011a0001c0001t0002g0048a0001c0001t0002g0050others(12): Show | 15 | HG01496.hp1 HG01884.hp2 HG02055.hp1 others(12): Show |
intron_variant | MODIFIER | c.2578-13120T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78052394 | ||||||
| chr5:78052631
|
C | T | 2 | a0002c0003t0001g0063a0002c0003t0001g0071 | 2 | NA18973.hp2 NA19057.hp1 |
intron_variant | MODIFIER | c.2578-13357G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78052631 | ||||||
| chr5:78052816
|
A | C | 11 | a0001c0001t0002g0011a0001c0001t0002g0048a0001c0001t0002g0050others(8): Show | 11 | HG01496.hp1 HG02055.hp1 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.2578-13542T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78052816 | ||||||
| chr5:78053037
|
A | G | 1 | a0001c0001t0001g0084 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.2578-13763T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78053037 | ||||||
| chr5:78053251
|
C | T | 1 | a0001c0004t0002g0002 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.2578-13977G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78053251 | ||||||
| chr5:78053413
|
G | A | 31 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(28): Show | 31 | HG01258.hp1 HG01346.hp1 HG01928.hp2 others(28): Show |
intron_variant | MODIFIER | c.2578-14139C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78053413 | ||||||
| chr5:78053621
|
A | C | 1 | a0001c0001t0002g0159 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.2578-14347T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78053621 | ||||||
| chr5:78053628
|
C | T | 1 | a0001c0001t0001g0207 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.2578-14354G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78053628 | ||||||
| chr5:78053660
|
T | C | 17 | a0001c0004t0001g0087a0001c0004t0002g0006a0001c0004t0002g0007others(14): Show | 17 | HG00642.hp2 HG01168.hp1 HG01884.hp1 others(14): Show |
intron_variant | MODIFIER | c.2578-14386A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78053660 | ||||||
| chr5:78053674
|
A | G | 107 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(104): Show | 107 | HG00280.hp2 HG00597.hp2 HG00642.hp2 others(104): Show |
intron_variant | MODIFIER | c.2578-14400T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78053674 | ||||||
| chr5:78053678
|
C | CA | 31 | a0001c0001t0001g0042a0001c0001t0001g0102a0001c0001t0001g0103others(28): Show | 31 | HG00099.hp2 HG00558.hp1 HG00639.hp1 others(28): Show |
intron_variant | MODIFIER | c.2578-14405dupT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78053678 | ||||||
| chr5:78053693
|
A | AAAAG | 38 | a0001c0001t0002g0011a0001c0001t0002g0021a0001c0002t0002g0064others(35): Show | 38 | HG00280.hp2 HG00735.hp1 HG00741.hp2 others(35): Show |
intron_variant | MODIFIER | c.2578-14420_2578-14 others(10): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78053693 | ||||||
| chr5:78053693
|
A | AAAG | 29 | a0001c0001t0002g0048a0001c0001t0002g0050a0001c0001t0002g0051others(26): Show | 29 | HG00642.hp2 HG01168.hp1 HG01884.hp1 others(26): Show |
intron_variant | MODIFIER | c.2578-14420_2578-14 others(9): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78053693 | ||||||
| chr5:78053694
|
A | G | 1 | a0001c0001t0001g0084 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.2578-14420T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78053694 | ||||||
| chr5:78053697
|
A | AAGAAAG | 5 | a0001c0001t0001g0032a0001c0001t0002g0017a0001c0004t0001g0077others(2): Show | 5 | HG02630.hp1 HG03130.hp2 NA18978.hp1 others(2): Show |
intron_variant | MODIFIER | c.2578-14424_2578-14 others(12): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78053697 | ||||||
| chr5:78053697
|
A | AGAAAG | 34 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0002g0012others(31): Show | 34 | HG00597.hp2 HG01258.hp1 HG01346.hp1 others(31): Show |
intron_variant | MODIFIER | c.2578-14428_2578-14 others(11): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78053697 | ||||||
| chr5:78053697
|
A | G | 67 | a0001c0001t0002g0011a0001c0001t0002g0021a0001c0001t0002g0048others(64): Show | 67 | HG00280.hp2 HG00642.hp2 HG00735.hp1 others(64): Show |
intron_variant | MODIFIER | c.2578-14423T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78053697 | ||||||
| chr5:78053701
|
A | G | 31 | a0001c0001t0002g0011a0001c0001t0002g0048a0001c0001t0002g0050others(28): Show | 31 | HG00642.hp2 HG01168.hp1 HG01496.hp1 others(28): Show |
intron_variant | MODIFIER | c.2578-14427T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78053701 | ||||||
| chr5:78053814
|
G | A | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.2578-14540C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78053814 | ||||||
| chr5:78053872
|
TTGGAGTT others(12): Show |
T | 31 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(28): Show | 31 | HG01258.hp1 HG01346.hp1 HG01928.hp2 others(28): Show |
intron_variant | MODIFIER | c.2578-14617_2578-14 others(25): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78053872 | ||||||
| chr5:78053891
|
A | C | 40 | a0001c0002t0001g0180a0001c0002t0001g0181a0001c0002t0001g0182others(37): Show | 40 | HG00280.hp2 HG00597.hp2 HG00735.hp1 others(37): Show |
intron_variant | MODIFIER | c.2578-14617T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78053891 | ||||||
| chr5:78053912
|
G | C | 104 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(101): Show | 104 | HG00280.hp2 HG00597.hp2 HG00642.hp2 others(101): Show |
intron_variant | MODIFIER | c.2578-14638C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78053912 | ||||||
| chr5:78053963
|
T | C | 2 | a0001c0001t0001g0144a0001c0001t0001g0145 | 2 | HG02109.hp2 HG02895.hp2 |
intron_variant | MODIFIER | c.2578-14689A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78053963 | ||||||
| chr5:78053980
|
T | C | 104 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(101): Show | 104 | HG00280.hp2 HG00597.hp2 HG00642.hp2 others(101): Show |
intron_variant | MODIFIER | c.2578-14706A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78053980 | ||||||
| chr5:78054030
|
A | G | 2 | a0001c0005t0002g0004a0001c0005t0002g0190 | 2 | HG02055.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.2578-14756T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78054030 | ||||||
| chr5:78054132
|
G | T | 104 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(101): Show | 104 | HG00280.hp2 HG00597.hp2 HG00642.hp2 others(101): Show |
intron_variant | MODIFIER | c.2578-14858C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78054132 | ||||||
| chr5:78054181
|
G | A | 1 | a0001c0001t0002g0021 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.2578-14907C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78054181 | ||||||
| chr5:78054392
|
A | T | 1 | a0001c0005t0002g0188 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.2578-15118T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78054392 | ||||||
| chr5:78054500
|
A | G | 107 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(104): Show | 107 | HG00280.hp2 HG00597.hp2 HG00642.hp2 others(104): Show |
intron_variant | MODIFIER | c.2578-15226T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78054500 | ||||||
| chr5:78054511
|
C | CA | 104 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(101): Show | 104 | HG00280.hp2 HG00597.hp2 HG00642.hp2 others(101): Show |
intron_variant | MODIFIER | c.2578-15238dupT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78054511 | ||||||
| chr5:78054625
|
T | G | 104 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(101): Show | 104 | HG00280.hp2 HG00597.hp2 HG00642.hp2 others(101): Show |
intron_variant | MODIFIER | c.2578-15351A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78054625 | ||||||
| chr5:78054717
|
T | C | 104 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(101): Show | 104 | HG00280.hp2 HG00597.hp2 HG00642.hp2 others(101): Show |
intron_variant | MODIFIER | c.2578-15443A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78054717 | ||||||
| chr5:78054767
|
T | C | 1 | a0001c0001t0001g0013 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.2578-15493A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78054767 | ||||||
| chr5:78055016
|
G | GAC | 4 | a0002c0003t0001g0041a0002c0003t0001g0043a0002c0003t0001g0100others(1): Show | 4 | HG02735.hp1 NA18952.hp1 NA18987.hp1 others(1): Show |
intron_variant | MODIFIER | c.2578-15744_2578-15 others(8): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78055016 | ||||||
| chr5:78055016
|
GAC | G | 37 | a0001c0001t0001g0042a0001c0001t0001g0075a0001c0001t0001g0098others(34): Show | 37 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(34): Show |
intron_variant | MODIFIER | c.2578-15744_2578-15 others(8): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78055016 | ||||||
| chr5:78055016
|
GACAC | G | 63 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0037others(60): Show | 63 | HG00099.hp1 HG00099.hp2 HG00558.hp1 others(60): Show |
intron_variant | MODIFIER | c.2578-15746_2578-15 others(10): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78055016 | ||||||
| chr5:78055016
|
GACACAC | G | 9 | a0001c0001t0001g0108a0001c0001t0001g0116a0001c0001t0001g0127others(6): Show | 9 | HG01884.hp1 HG01943.hp1 HG01978.hp1 others(6): Show |
intron_variant | MODIFIER | c.2578-15748_2578-15 others(12): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78055016 | ||||||
| chr5:78055016
|
GACACACA others(1): Show |
G | 6 | a0001c0001t0001g0104a0001c0001t0001g0211a0001c0004t0002g0185others(3): Show | 6 | HG00642.hp2 HG02135.hp2 HG02451.hp1 others(3): Show |
intron_variant | MODIFIER | c.2578-15750_2578-15 others(14): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78055016 | ||||||
| chr5:78055016
|
GACACACA others(3): Show |
G | 4 | a0001c0001t0002g0011a0001c0001t0002g0019a0001c0001t0002g0023others(1): Show | 4 | HG01496.hp1 HG03516.hp2 NA18992.hp2 others(1): Show |
intron_variant | MODIFIER | c.2578-15752_2578-15 others(16): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78055016 | ||||||
| chr5:78055016
|
GACACACA others(5): Show |
G | 90 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(87): Show | 90 | HG00280.hp2 HG00597.hp2 HG00735.hp1 others(87): Show |
intron_variant | MODIFIER | c.2578-15754_2578-15 others(18): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78055016 | ||||||
| chr5:78055016
|
GACACACA others(7): Show |
G | 4 | a0001c0002t0002g0152a0001c0004t0002g0007a0001c0004t0002g0085others(1): Show | 4 | HG02809.hp2 HG03130.hp2 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.2578-15756_2578-15 others(20): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78055016 | ||||||
| chr5:78055026
|
C | G | 2 | a0003c0009t0002g0074a0003c0009t0002g0078 | 2 | HG01884.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.2578-15752G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78055026 | ||||||
| chr5:78055028
|
C | G | 2 | a0001c0005t0002g0192a0001c0005t0002g0194 | 2 | HG02451.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.2578-15754G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78055028 | ||||||
| chr5:78055219
|
T | C | 2 | a0001c0005t0002g0192a0001c0005t0002g0194 | 2 | HG02451.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.2578-15945A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78055219 | ||||||
| chr5:78055293
|
T | C | 12 | a0001c0001t0002g0011a0001c0012t0001g0142a0003c0007t0002g0072others(9): Show | 12 | HG01496.hp1 HG01884.hp2 HG02723.hp2 others(9): Show |
intron_variant | MODIFIER | c.2578-16019A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78055293 | ||||||
| chr5:78055692
|
T | C | 104 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(101): Show | 104 | HG00280.hp2 HG00597.hp2 HG00642.hp2 others(101): Show |
intron_variant | MODIFIER | c.2578-16418A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78055692 | ||||||
| chr5:78055693
|
G | A | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.2578-16419C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78055693 | ||||||
| chr5:78055735
|
G | A | 104 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(101): Show | 104 | HG00280.hp2 HG00597.hp2 HG00642.hp2 others(101): Show |
intron_variant | MODIFIER | c.2578-16461C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78055735 | ||||||
| chr5:78055870
|
T | A | 12 | a0001c0001t0002g0011a0001c0012t0001g0142a0003c0007t0002g0072others(9): Show | 12 | HG01496.hp1 HG01884.hp2 HG02723.hp2 others(9): Show |
intron_variant | MODIFIER | c.2578-16596A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78055870 | ||||||
| chr5:78055914
|
C | T | 102 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(99): Show | 102 | HG00280.hp2 HG00597.hp2 HG00642.hp2 others(99): Show |
intron_variant | MODIFIER | c.2578-16640G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78055914 | ||||||
| chr5:78056004
|
T | C | 104 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(101): Show | 104 | HG00280.hp2 HG00597.hp2 HG00642.hp2 others(101): Show |
intron_variant | MODIFIER | c.2578-16730A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78056004 | ||||||
| chr5:78056309
|
C | T | 102 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(99): Show | 102 | HG00280.hp2 HG00597.hp2 HG00642.hp2 others(99): Show |
intron_variant | MODIFIER | c.2578-17035G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78056309 | ||||||
| chr5:78056449
|
C | T | 5 | a0001c0002t0002g0175a0001c0002t0002g0176a0001c0002t0002g0177others(2): Show | 5 | HG00280.hp2 HG01070.hp1 HG02148.hp2 others(2): Show |
intron_variant | MODIFIER | c.2578-17175G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78056449 | ||||||
| chr5:78056501
|
T | C | 2 | a0001c0004t0002g0186a0007c0014t0002g0196 | 2 | HG02723.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.2578-17227A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78056501 | ||||||
| chr5:78056502
|
G | A | 104 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(101): Show | 104 | HG00280.hp2 HG00597.hp2 HG00642.hp2 others(101): Show |
intron_variant | MODIFIER | c.2578-17228C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78056502 | ||||||
| chr5:78057026
|
T | C | 104 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(101): Show | 104 | HG00280.hp2 HG00597.hp2 HG00642.hp2 others(101): Show |
intron_variant | MODIFIER | c.2578-17752A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78057026 | ||||||
| chr5:78057183
|
G | A | 104 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(101): Show | 104 | HG00280.hp2 HG00597.hp2 HG00642.hp2 others(101): Show |
intron_variant | MODIFIER | c.2578-17909C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78057183 | ||||||
| chr5:78057212
|
T | C | 1 | a0001c0002t0002g0158 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.2578-17938A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78057212 | ||||||
| chr5:78057301
|
G | A | 97 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(94): Show | 97 | HG00280.hp2 HG00642.hp2 HG00735.hp1 others(94): Show |
intron_variant | MODIFIER | c.2578-18027C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78057301 | ||||||
| chr5:78057325
|
C | A | 99 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(96): Show | 99 | HG00280.hp2 HG00642.hp2 HG00735.hp1 others(96): Show |
intron_variant | MODIFIER | c.2578-18051G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78057325 | ||||||
| chr5:78057343
|
C | T | 103 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(100): Show | 103 | HG00280.hp2 HG00642.hp2 HG00735.hp1 others(100): Show |
intron_variant | MODIFIER | c.2578-18069G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78057343 | ||||||
| chr5:78057375
|
C | T | 1 | a0001c0001t0001g0116 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.2578-18101G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78057375 | ||||||
| chr5:78057379
|
C | T | 1 | a0002c0003t0001g0046 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.2578-18105G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78057379 | ||||||
| chr5:78057662
|
CACTT | C | 2 | a0001c0004t0002g0186a0007c0014t0002g0196 | 2 | HG02723.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.2578-18392_2578-18 others(10): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78057662 | ||||||
| chr5:78057678
|
G | GATTTACT others(19): Show |
1 | a0002c0003t0001g0061 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.2578-18430_2578-18 others(32): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78057678 | ||||||
| chr5:78057775
|
C | G | 1 | a0001c0002t0002g0171 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.2578-18501G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78057775 | ||||||
| chr5:78057994
|
T | C | 1 | a0001c0004t0002g0006 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.2578-18720A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78057994 | ||||||
| chr5:78058066
|
A | G | 3 | a0001c0002t0001g0181a0001c0002t0001g0182a0001c0002t0001g0184 | 3 | HG00597.hp2 HG02015.hp2 NA18978.hp2 |
intron_variant | MODIFIER | c.2578-18792T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78058066 | ||||||
| chr5:78058425
|
G | A | 104 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(101): Show | 104 | HG00280.hp2 HG00597.hp2 HG00642.hp2 others(101): Show |
intron_variant | MODIFIER | c.2578-19151C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78058425 | ||||||
| chr5:78058432
|
G | A | 102 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(99): Show | 102 | HG00280.hp2 HG00597.hp2 HG00642.hp2 others(99): Show |
intron_variant | MODIFIER | c.2578-19158C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78058432 | ||||||
| chr5:78058454
|
C | T | 1 | a0001c0005t0002g0190 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2578-19180G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78058454 | ||||||
| chr5:78058457
|
G | A | 1 | a0001c0001t0001g0107 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.2578-19183C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78058457 | ||||||
| chr5:78058462
|
T | C | 1 | a0001c0001t0002g0011 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.2578-19188A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78058462 | ||||||
| chr5:78058468
|
G | A | 2 | a0001c0004t0002g0186a0007c0014t0002g0196 | 2 | HG02723.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.2578-19194C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78058468 | ||||||
| chr5:78058627
|
A | C | 31 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(28): Show | 31 | HG01258.hp1 HG01346.hp1 HG01928.hp2 others(28): Show |
intron_variant | MODIFIER | c.2578-19353T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78058627 | ||||||
| chr5:78058828
|
C | T | 11 | a0001c0012t0001g0142a0003c0007t0002g0072a0003c0007t0002g0079others(8): Show | 11 | HG01884.hp2 HG02723.hp2 HG02818.hp1 others(8): Show |
intron_variant | MODIFIER | c.2578-19554G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78058828 | ||||||
| chr5:78058858
|
A | G | 1 | a0001c0001t0001g0082 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.2578-19584T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78058858 | ||||||
| chr5:78059089
|
T | C | 3 | a0001c0001t0001g0106a0001c0001t0001g0107a0001c0001t0001g0122 | 3 | HG01361.hp1 HG02109.hp1 HG03704.hp1 |
intron_variant | MODIFIER | c.2578-19815A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78059089 | ||||||
| chr5:78059091
|
A | G | 1 | a0001c0002t0002g0154 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.2578-19817T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78059091 | ||||||
| chr5:78059145
|
A | C | 1 | a0002c0003t0001g0090 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.2578-19871T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78059145 | ||||||
| chr5:78059449
|
C | A | 104 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(101): Show | 104 | HG00280.hp2 HG00597.hp2 HG00642.hp2 others(101): Show |
intron_variant | MODIFIER | c.2578-20175G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78059449 | ||||||
| chr5:78059555
|
A | ACTCAGCT others(2): Show |
104 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(101): Show | 104 | HG00280.hp2 HG00597.hp2 HG00642.hp2 others(101): Show |
intron_variant | MODIFIER | c.2578-20282_2578-20 others(15): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78059555 | ||||||
| chr5:78060052
|
C | G | 13 | a0001c0004t0001g0087a0001c0004t0002g0006a0001c0004t0002g0007others(10): Show | 13 | HG00642.hp2 HG01168.hp1 HG02055.hp2 others(10): Show |
intron_variant | MODIFIER | c.2578-20778G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78060052 | ||||||
| chr5:78060347
|
A | G | 1 | a0001c0001t0001g0096 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.2578-21073T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78060347 | ||||||
| chr5:78060476
|
C | T | 1 | a0001c0005t0002g0189 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.2578-21202G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78060476 | ||||||
| chr5:78060497
|
A | G | 3 | a0001c0004t0002g0001a0001c0004t0002g0002a0001c0004t0002g0003 | 3 | HG02615.hp2 HG03453.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.2578-21223T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78060497 | ||||||
| chr5:78060661
|
G | A | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.2578-21387C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78060661 | ||||||
| chr5:78061191
|
T | C | 4 | a0001c0001t0001g0144a0001c0001t0001g0145a0001c0001t0001g0147others(1): Show | 4 | HG02109.hp2 HG02615.hp1 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.2578-21917A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78061191 | ||||||
| chr5:78061271
|
A | AT | 31 | a0001c0001t0002g0011a0001c0004t0001g0087a0001c0004t0002g0006others(28): Show | 31 | HG00642.hp2 HG01168.hp1 HG01496.hp1 others(28): Show |
intron_variant | MODIFIER | c.2578-21998dupA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78061271 | ||||||
| chr5:78061391
|
T | C | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.2578-22117A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78061391 | ||||||
| chr5:78061675
|
G | A | 1 | a0002c0003t0001g0043 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.2578-22401C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78061675 | ||||||
| chr5:78061758
|
G | T | 40 | a0001c0002t0001g0180a0001c0002t0001g0181a0001c0002t0001g0182others(37): Show | 40 | HG00280.hp2 HG00597.hp2 HG00735.hp1 others(37): Show |
intron_variant | MODIFIER | c.2578-22484C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78061758 | ||||||
| chr5:78061778
|
T | A | 1 | a0001c0004t0002g0186 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.2578-22504A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78061778 | ||||||
| chr5:78061980
|
T | C | 1 | a0001c0001t0001g0167 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.2578-22706A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78061980 | ||||||
| chr5:78062637
|
C | T | 1 | a0009c0016t0001g0089 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.2578-23363G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78062637 | ||||||
| chr5:78062828
|
C | T | 2 | a0001c0004t0002g0006a0001c0004t0002g0007 | 2 | HG02809.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.2578-23554G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78062828 | ||||||
| chr5:78063264
|
G | A | 186 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(183): Show | 186 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(183): Show |
intron_variant | MODIFIER | c.2578-23990C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78063264 | ||||||
| chr5:78064025
|
C | T | 31 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(28): Show | 31 | HG01258.hp1 HG01346.hp1 HG01928.hp2 others(28): Show |
intron_variant | MODIFIER | c.2578-24751G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78064025 | ||||||
| chr5:78064185
|
T | C | 3 | a0001c0001t0001g0197a0001c0001t0001g0215a0001c0001t0001g0217 | 3 | HG00558.hp1 HG02523.hp1 NA19081.hp1 |
intron_variant | MODIFIER | c.2578-24911A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78064185 | ||||||
| chr5:78064223
|
TTAGA | T | 29 | a0001c0001t0002g0011a0001c0004t0001g0087a0001c0004t0002g0006others(26): Show | 29 | HG00642.hp2 HG01168.hp1 HG01496.hp1 others(26): Show |
intron_variant | MODIFIER | c.2578-24953_2578-24 others(10): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78064223 | ||||||
| chr5:78064230
|
T | C | 2 | a0001c0005t0002g0004a0001c0005t0002g0190 | 2 | HG02055.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.2578-24956A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78064230 | ||||||
| chr5:78064596
|
T | C | 1 | a0001c0001t0002g0159 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.2577+24797A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78064596 | ||||||
| chr5:78064651
|
CA | C | 31 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(28): Show | 31 | HG01258.hp1 HG01346.hp1 HG01928.hp2 others(28): Show |
intron_variant | MODIFIER | c.2577+24741delT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78064651 | ||||||
| chr5:78064819
|
G | A | 2 | a0001c0004t0002g0006a0001c0004t0002g0007 | 2 | HG02809.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.2577+24574C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78064819 | ||||||
| chr5:78064990
|
C | T | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.2577+24403G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78064990 | ||||||
| chr5:78065415
|
G | A | 5 | a0001c0001t0002g0011a0003c0008t0002g0035a0003c0008t0002g0036others(2): Show | 5 | HG01496.hp1 HG01884.hp2 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.2577+23978C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78065415 | ||||||
| chr5:78065463
|
G | A | 31 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(28): Show | 31 | HG01258.hp1 HG01346.hp1 HG01928.hp2 others(28): Show |
intron_variant | MODIFIER | c.2577+23930C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78065463 | ||||||
| chr5:78065482
|
G | A | 1 | a0001c0001t0001g0099 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.2577+23911C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78065482 | ||||||
| chr5:78065689
|
A | G | 105 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(102): Show | 105 | HG00280.hp2 HG00597.hp2 HG00642.hp2 others(102): Show |
intron_variant | MODIFIER | c.2577+23704T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78065689 | ||||||
| chr5:78066039
|
G | T | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.2577+23354C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78066039 | ||||||
| chr5:78066116
|
G | A | 2 | a0001c0004t0002g0186a0007c0014t0002g0196 | 2 | HG02723.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.2577+23277C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78066116 | ||||||
| chr5:78066358
|
C | T | 2 | a0001c0001t0001g0106a0001c0001t0001g0107 | 2 | HG01361.hp1 HG02109.hp1 |
intron_variant | MODIFIER | c.2577+23035G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78066358 | ||||||
| chr5:78066598
|
C | T | 1 | a0001c0002t0002g0158 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.2577+22795G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78066598 | ||||||
| chr5:78066701
|
C | A | 2 | a0001c0001t0001g0102a0001c0001t0001g0103 | 2 | HG00099.hp2 HG00639.hp2 |
intron_variant | MODIFIER | c.2577+22692G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78066701 | ||||||
| chr5:78066881
|
G | A | 1 | a0001c0001t0001g0201 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.2577+22512C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78066881 | ||||||
| chr5:78066886
|
G | C | 3 | a0001c0001t0001g0202a0001c0001t0001g0212a0001c0001t0001g0213 | 3 | HG01934.hp2 HG01981.hp2 NA20752.hp1 |
intron_variant | MODIFIER | c.2577+22507C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78066886 | ||||||
| chr5:78066947
|
T | C | 1 | a0002c0003t0001g0066 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.2577+22446A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78066947 | ||||||
| chr5:78067063
|
T | C | 14 | a0001c0001t0002g0011a0001c0004t0002g0186a0001c0012t0001g0142others(11): Show | 14 | HG01496.hp1 HG01884.hp2 HG02723.hp1 others(11): Show |
intron_variant | MODIFIER | c.2577+22330A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78067063 | ||||||
| chr5:78067065
|
A | G | 14 | a0001c0001t0002g0011a0001c0004t0002g0186a0001c0012t0001g0142others(11): Show | 14 | HG01496.hp1 HG01884.hp2 HG02723.hp1 others(11): Show |
intron_variant | MODIFIER | c.2577+22328T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78067065 | ||||||
| chr5:78067211
|
A | G | 7 | a0001c0012t0001g0142a0003c0007t0002g0072a0003c0007t0002g0079others(4): Show | 7 | HG02723.hp2 HG02818.hp1 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.2577+22182T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78067211 | ||||||
| chr5:78067216
|
C | G | 1 | a0002c0003t0001g0068 | 1 | NA18972.hp2 | intron_variant | MODIFIER | c.2577+22177G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78067216 | ||||||
| chr5:78067316
|
T | C | 7 | a0001c0012t0001g0142a0003c0007t0002g0072a0003c0007t0002g0079others(4): Show | 7 | HG02723.hp2 HG02818.hp1 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.2577+22077A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78067316 | ||||||
| chr5:78067346
|
T | C | 2 | a0001c0004t0002g0006a0001c0004t0002g0007 | 2 | HG02809.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.2577+22047A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78067346 | ||||||
| chr5:78067372
|
A | G | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.2577+22021T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78067372 | ||||||
| chr5:78067409
|
G | C | 2 | a0001c0004t0001g0077a0001c0004t0002g0226 | 2 | HG02630.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.2577+21984C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78067409 | ||||||
| chr5:78067449
|
C | G | 40 | a0001c0002t0001g0180a0001c0002t0001g0181a0001c0002t0001g0182others(37): Show | 40 | HG00280.hp2 HG00597.hp2 HG00735.hp1 others(37): Show |
intron_variant | MODIFIER | c.2577+21944G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78067449 | ||||||
| chr5:78067517
|
G | A | 1 | a0001c0002t0002g0158 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.2577+21876C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78067517 | ||||||
| chr5:78067581
|
C | T | 4 | a0001c0005t0002g0192a0001c0005t0002g0194a0003c0009t0002g0074others(1): Show | 4 | HG01884.hp1 HG02451.hp1 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.2577+21812G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78067581 | ||||||
| chr5:78067582
|
G | A | 1 | a0001c0004t0002g0186 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.2577+21811C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78067582 | ||||||
| chr5:78067582
|
G | T | 2 | a0001c0001t0003g0121a0005c0015t0001g0105 | 2 | HG01993.hp1 HG02148.hp1 |
intron_variant | MODIFIER | c.2577+21811C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78067582 | ||||||
| chr5:78067853
|
C | G | 1 | a0001c0001t0001g0111 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.2577+21540G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78067853 | ||||||
| chr5:78067922
|
T | C | 6 | a0001c0002t0002g0132a0001c0002t0002g0133a0001c0002t0002g0134others(3): Show | 6 | NA18956.hp2 NA18964.hp1 NA18969.hp1 others(3): Show |
intron_variant | MODIFIER | c.2577+21471A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78067922 | ||||||
| chr5:78067932
|
C | A | 1 | a0001c0001t0001g0224 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.2577+21461G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78067932 | ||||||
| chr5:78067952
|
C | CAA | 3 | a0001c0002t0002g0154a0001c0002t0002g0160a0001c0002t0002g0162 | 3 | NA18950.hp1 NA18988.hp2 NA19074.hp1 |
intron_variant | MODIFIER | c.2577+21440_2577+21 others(8): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78067952 | ||||||
| chr5:78067953
|
G | A | 3 | a0001c0002t0002g0154a0001c0002t0002g0160a0001c0002t0002g0162 | 3 | NA18950.hp1 NA18988.hp2 NA19074.hp1 |
intron_variant | MODIFIER | c.2577+21440C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78067953 | ||||||
| chr5:78067953
|
G | GA | 24 | a0001c0001t0001g0220a0001c0001t0002g0011a0001c0004t0001g0077others(21): Show | 24 | HG00642.hp2 HG01496.hp1 HG01884.hp1 others(21): Show |
intron_variant | MODIFIER | c.2577+21439dupT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78067953 | ||||||
| chr5:78067953
|
G | GAA | 47 | a0001c0002t0001g0180a0001c0002t0001g0181a0001c0002t0001g0182others(44): Show | 47 | HG00280.hp2 HG00597.hp2 HG00735.hp1 others(44): Show |
intron_variant | MODIFIER | c.2577+21438_2577+21 others(8): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78067953 | ||||||
| chr5:78067966
|
T | C | 1 | a0001c0004t0002g0002 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.2577+21427A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78067966 | ||||||
| chr5:78068221
|
G | A | 4 | a0001c0005t0002g0192a0001c0005t0002g0194a0003c0009t0002g0074others(1): Show | 4 | HG01884.hp1 HG02451.hp1 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.2577+21172C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78068221 | ||||||
| chr5:78068274
|
G | A | 1 | a0002c0003t0001g0061 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.2577+21119C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78068274 | ||||||
| chr5:78068358
|
A | AAGAAGG | 83 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(80): Show | 83 | HG00280.hp2 HG00597.hp2 HG00735.hp1 others(80): Show |
intron_variant | MODIFIER | c.2577+21029_2577+21 others(12): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78068358 | ||||||
| chr5:78068358
|
A | AAGAAGGA others(5): Show |
3 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0039 | 3 | HG01884.hp2 NA18522.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.2577+21023_2577+21 others(18): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78068358 | ||||||
| chr5:78068358
|
AAGAAGG | A | 17 | a0001c0004t0001g0087a0001c0004t0002g0006a0001c0004t0002g0007others(14): Show | 17 | HG00642.hp2 HG01168.hp1 HG01884.hp1 others(14): Show |
intron_variant | MODIFIER | c.2577+21029_2577+21 others(12): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78068358 | ||||||
| chr5:78068681
|
G | A | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.2577+20712C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78068681 | ||||||
| chr5:78068797
|
CA | C | 105 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(102): Show | 105 | HG00280.hp2 HG00597.hp2 HG00642.hp2 others(102): Show |
intron_variant | MODIFIER | c.2577+20595delT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78068797 | ||||||
| chr5:78068800
|
A | C | 1 | a0001c0001t0001g0207 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.2577+20593T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78068800 | ||||||
| chr5:78068812
|
A | C | 1 | a0001c0004t0002g0186 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.2577+20581T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78068812 | ||||||
| chr5:78069259
|
T | A | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.2577+20134A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78069259 | ||||||
| chr5:78069279
|
G | A | 2 | a0001c0002t0002g0158a0001c0002t0002g0169 | 2 | HG02135.hp1 NA19002.hp2 |
intron_variant | MODIFIER | c.2577+20114C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78069279 | ||||||
| chr5:78069395
|
T | C | 1 | a0001c0001t0001g0110 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.2577+19998A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78069395 | ||||||
| chr5:78069478
|
TAATG | T | 17 | a0001c0004t0001g0087a0001c0004t0002g0006a0001c0004t0002g0007others(14): Show | 17 | HG00642.hp2 HG01168.hp1 HG01884.hp1 others(14): Show |
intron_variant | MODIFIER | c.2577+19911_2577+19 others(10): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78069478 | ||||||
| chr5:78069502
|
T | C | 31 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(28): Show | 31 | HG01258.hp1 HG01346.hp1 HG01928.hp2 others(28): Show |
intron_variant | MODIFIER | c.2577+19891A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78069502 | ||||||
| chr5:78069524
|
C | T | 1 | a0001c0001t0001g0220 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.2577+19869G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78069524 | ||||||
| chr5:78069532
|
T | C | 12 | a0001c0001t0001g0042a0001c0001t0001g0197a0001c0001t0001g0198others(9): Show | 12 | HG00558.hp1 HG00642.hp1 HG01168.hp2 others(9): Show |
intron_variant | MODIFIER | c.2577+19861A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78069532 | ||||||
| chr5:78069823
|
C | T | 6 | a0001c0001t0001g0099a0001c0002t0002g0175a0001c0002t0002g0176others(3): Show | 6 | HG00280.hp2 HG01070.hp1 HG02148.hp2 others(3): Show |
intron_variant | MODIFIER | c.2577+19570G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78069823 | ||||||
| chr5:78069879
|
A | C | 104 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(101): Show | 104 | HG00280.hp2 HG00597.hp2 HG00642.hp2 others(101): Show |
intron_variant | MODIFIER | c.2577+19514T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78069879 | ||||||
| chr5:78069908
|
G | A | 17 | a0001c0004t0001g0087a0001c0004t0002g0006a0001c0004t0002g0007others(14): Show | 17 | HG00642.hp2 HG01168.hp1 HG01884.hp1 others(14): Show |
intron_variant | MODIFIER | c.2577+19485C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78069908 | ||||||
| chr5:78069925
|
G | A | 2 | a0001c0002t0001g0138a0001c0002t0001g0139 | 2 | HG00639.hp1 HG01106.hp1 |
intron_variant | MODIFIER | c.2577+19468C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78069925 | ||||||
| chr5:78070065
|
A | G | 104 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(101): Show | 104 | HG00280.hp2 HG00597.hp2 HG00642.hp2 others(101): Show |
intron_variant | MODIFIER | c.2577+19328T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78070065 | ||||||
| chr5:78070084
|
T | C | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.2577+19309A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78070084 | ||||||
| chr5:78070219
|
C | T | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.2577+19174G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78070219 | ||||||
| chr5:78070243
|
C | T | 1 | a0002c0003t0001g0092 | 1 | NA18989.hp2 | intron_variant | MODIFIER | c.2577+19150G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78070243 | ||||||
| chr5:78070349
|
G | A | 2 | a0001c0002t0001g0180a0001c0002t0001g0183 | 2 | NA18949.hp2 NA18982.hp1 |
intron_variant | MODIFIER | c.2577+19044C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78070349 | ||||||
| chr5:78070409
|
GA | G | 153 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0037others(150): Show | 153 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(150): Show |
intron_variant | MODIFIER | c.2577+18983delT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78070409 | ||||||
| chr5:78070413
|
A | G | 1 | a0001c0001t0002g0123 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.2577+18980T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78070413 | ||||||
| chr5:78070425
|
A | G | 12 | a0001c0001t0002g0011a0001c0012t0001g0142a0003c0007t0002g0072others(9): Show | 12 | HG01496.hp1 HG01884.hp2 HG02723.hp2 others(9): Show |
intron_variant | MODIFIER | c.2577+18968T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78070425 | ||||||
| chr5:78070558
|
A | T | 2 | a0001c0002t0001g0180a0001c0002t0001g0183 | 2 | NA18949.hp2 NA18982.hp1 |
intron_variant | MODIFIER | c.2577+18835T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78070558 | ||||||
| chr5:78070647
|
T | C | 1 | a0002c0003t0001g0218 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.2577+18746A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78070647 | ||||||
| chr5:78070722
|
C | CA | 7 | a0001c0005t0001g0195a0001c0005t0002g0004a0001c0005t0002g0188others(4): Show | 7 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(4): Show |
intron_variant | MODIFIER | c.2577+18670dupT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78070722 | ||||||
| chr5:78070733
|
A | C | 1 | a0001c0002t0002g0158 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.2577+18660T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78070733 | ||||||
| chr5:78070867
|
T | C | 31 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(28): Show | 31 | HG01258.hp1 HG01346.hp1 HG01928.hp2 others(28): Show |
intron_variant | MODIFIER | c.2577+18526A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78070867 | ||||||
| chr5:78070888
|
G | A | 104 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(101): Show | 104 | HG00280.hp2 HG00597.hp2 HG00642.hp2 others(101): Show |
intron_variant | MODIFIER | c.2577+18505C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78070888 | ||||||
| chr5:78071114
|
T | G | 1 | a0001c0001t0002g0011 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.2577+18279A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78071114 | ||||||
| chr5:78071132
|
A | G | 4 | a0001c0005t0002g0192a0001c0005t0002g0194a0003c0009t0002g0074others(1): Show | 4 | HG01884.hp1 HG02451.hp1 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.2577+18261T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78071132 | ||||||
| chr5:78071213
|
A | G | 1 | a0001c0001t0001g0076 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.2577+18180T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78071213 | ||||||
| chr5:78071324
|
C | T | 1 | a0001c0004t0002g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.2577+18069G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78071324 | ||||||
| chr5:78071401
|
C | T | 73 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(70): Show | 73 | HG00280.hp2 HG00597.hp2 HG00735.hp1 others(70): Show |
intron_variant | MODIFIER | c.2577+17992G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78071401 | ||||||
| chr5:78071530
|
T | C | 1 | a0001c0005t0002g0192 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.2577+17863A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78071530 | ||||||
| chr5:78071550
|
C | A | 1 | a0001c0005t0002g0194 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.2577+17843G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78071550 | ||||||
| chr5:78071941
|
C | A | 40 | a0001c0002t0001g0180a0001c0002t0001g0181a0001c0002t0001g0182others(37): Show | 40 | HG00280.hp2 HG00597.hp2 HG00735.hp1 others(37): Show |
intron_variant | MODIFIER | c.2577+17452G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78071941 | ||||||
| chr5:78072189
|
C | G | 73 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(70): Show | 73 | HG00280.hp2 HG00597.hp2 HG00735.hp1 others(70): Show |
intron_variant | MODIFIER | c.2577+17204G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78072189 | ||||||
| chr5:78072390
|
G | A | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.2577+17003C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78072390 | ||||||
| chr5:78072712
|
C | CT | 96 | a0001c0001t0001g0008a0001c0001t0001g0042a0001c0001t0001g0075others(93): Show | 96 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(93): Show |
intron_variant | MODIFIER | c.2577+16680dupA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78072712 | ||||||
| chr5:78072712
|
C | CTT | 42 | a0001c0001t0001g0009a0001c0001t0001g0013a0001c0001t0001g0029others(39): Show | 42 | HG00639.hp2 HG00741.hp1 HG01070.hp2 others(39): Show |
intron_variant | MODIFIER | c.2577+16679_2577+16 others(8): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78072712 | ||||||
| chr5:78072712
|
CT | C | 54 | a0001c0002t0001g0181a0001c0002t0001g0182a0001c0002t0001g0183others(51): Show | 54 | HG00280.hp2 HG00597.hp2 HG00642.hp2 others(51): Show |
intron_variant | MODIFIER | c.2577+16680delA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78072712 | ||||||
| chr5:78072712
|
CTT | C | 13 | a0001c0001t0002g0011a0001c0002t0002g0176a0001c0004t0002g0186others(10): Show | 13 | HG01496.hp1 HG02602.hp1 HG02723.hp1 others(10): Show |
intron_variant | MODIFIER | c.2577+16679_2577+16 others(8): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78072712 | ||||||
| chr5:78072809
|
C | T | 2 | a0001c0001t0001g0208a0001c0001t0001g0222 | 2 | NA18950.hp2 NA18952.hp2 |
intron_variant | MODIFIER | c.2577+16584G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78072809 | ||||||
| chr5:78072883
|
G | A | 1 | a0002c0003t0001g0066 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.2577+16510C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78072883 | ||||||
| chr5:78072995
|
C | T | 2 | a0001c0004t0001g0077a0001c0004t0002g0226 | 2 | HG02630.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.2577+16398G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78072995 | ||||||
| chr5:78073011
|
C | T | 7 | a0001c0012t0001g0142a0003c0007t0002g0072a0003c0007t0002g0079others(4): Show | 7 | HG02723.hp2 HG02818.hp1 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.2577+16382G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78073011 | ||||||
| chr5:78073149
|
T | C | 104 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(101): Show | 104 | HG00280.hp2 HG00597.hp2 HG00642.hp2 others(101): Show |
intron_variant | MODIFIER | c.2577+16244A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78073149 | ||||||
| chr5:78073178
|
G | A | 13 | a0001c0004t0002g0186a0001c0012t0001g0142a0003c0007t0002g0072others(10): Show | 13 | HG01884.hp2 HG02723.hp1 HG02723.hp2 others(10): Show |
intron_variant | MODIFIER | c.2577+16215C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78073178 | ||||||
| chr5:78073284
|
T | C | 2 | a0001c0002t0002g0152a0001c0002t0002g0153 | 2 | HG03654.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.2577+16109A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78073284 | ||||||
| chr5:78073402
|
A | G | 1 | a0003c0008t0002g0038 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2577+15991T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78073402 | ||||||
| chr5:78073403
|
T | C | 2 | a0001c0001t0001g0203a0001c0001t0001g0220 | 2 | HG02280.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.2577+15990A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78073403 | ||||||
| chr5:78073426
|
G | A | 31 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(28): Show | 31 | HG01258.hp1 HG01346.hp1 HG01928.hp2 others(28): Show |
intron_variant | MODIFIER | c.2577+15967C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78073426 | ||||||
| chr5:78073602
|
C | T | 11 | a0001c0012t0001g0142a0003c0007t0002g0072a0003c0007t0002g0079others(8): Show | 11 | HG01884.hp2 HG02723.hp2 HG02818.hp1 others(8): Show |
intron_variant | MODIFIER | c.2577+15791G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78073602 | ||||||
| chr5:78073638
|
A | C | 3 | a0001c0005t0002g0192a0003c0009t0002g0074a0003c0009t0002g0078 | 3 | HG01884.hp1 HG02451.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.2577+15755T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78073638 | ||||||
| chr5:78074018
|
G | A | 13 | a0001c0004t0002g0186a0001c0012t0001g0142a0003c0007t0002g0072others(10): Show | 13 | HG01884.hp2 HG02723.hp1 HG02723.hp2 others(10): Show |
intron_variant | MODIFIER | c.2577+15375C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78074018 | ||||||
| chr5:78074079
|
G | A | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.2577+15314C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78074079 | ||||||
| chr5:78074192
|
A | G | 1 | a0001c0004t0002g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.2577+15201T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78074192 | ||||||
| chr5:78074670
|
C | T | 3 | a0001c0004t0002g0001a0001c0004t0002g0003a0001c0004t0002g0226 | 3 | HG02615.hp2 HG03130.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.2577+14723G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78074670 | ||||||
| chr5:78074711
|
G | A | 1 | a0001c0002t0002g0158 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.2577+14682C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78074711 | ||||||
| chr5:78074751
|
C | T | 2 | a0001c0004t0002g0186a0007c0014t0002g0196 | 2 | HG02723.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.2577+14642G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78074751 | ||||||
| chr5:78074896
|
G | A | 13 | a0001c0004t0002g0186a0001c0012t0001g0142a0003c0007t0002g0072others(10): Show | 13 | HG01884.hp2 HG02723.hp1 HG02723.hp2 others(10): Show |
intron_variant | MODIFIER | c.2577+14497C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78074896 | ||||||
| chr5:78074911
|
C | T | 1 | a0001c0004t0002g0186 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.2577+14482G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78074911 | ||||||
| chr5:78074926
|
C | T | 13 | a0001c0004t0002g0186a0001c0012t0001g0142a0003c0007t0002g0072others(10): Show | 13 | HG01884.hp2 HG02723.hp1 HG02723.hp2 others(10): Show |
intron_variant | MODIFIER | c.2577+14467G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78074926 | ||||||
| chr5:78075096
|
A | G | 2 | a0001c0002t0001g0138a0001c0002t0001g0139 | 2 | HG00639.hp1 HG01106.hp1 |
intron_variant | MODIFIER | c.2577+14297T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78075096 | ||||||
| chr5:78075123
|
G | C | 42 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(39): Show | 42 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(39): Show |
intron_variant | MODIFIER | c.2577+14270C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78075123 | ||||||
| chr5:78075435
|
C | G | 1 | a0001c0004t0002g0006 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.2577+13958G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78075435 | ||||||
| chr5:78075475
|
C | T | 1 | a0001c0002t0002g0158 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.2577+13918G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78075475 | ||||||
| chr5:78075548
|
T | C | 11 | a0001c0012t0001g0142a0003c0007t0002g0072a0003c0007t0002g0079others(8): Show | 11 | HG01884.hp2 HG02723.hp2 HG02818.hp1 others(8): Show |
intron_variant | MODIFIER | c.2577+13845A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78075548 | ||||||
| chr5:78075931
|
G | A | 11 | a0001c0012t0001g0142a0003c0007t0002g0072a0003c0007t0002g0079others(8): Show | 11 | HG01884.hp2 HG02723.hp2 HG02818.hp1 others(8): Show |
intron_variant | MODIFIER | c.2577+13462C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78075931 | ||||||
| chr5:78075983
|
G | A | 17 | a0001c0004t0001g0087a0001c0004t0002g0006a0001c0004t0002g0007others(14): Show | 17 | HG00642.hp2 HG01168.hp1 HG01884.hp1 others(14): Show |
intron_variant | MODIFIER | c.2577+13410C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78075983 | ||||||
| chr5:78076084
|
A | G | 3 | a0001c0004t0002g0006a0001c0004t0002g0007a0001c0004t0002g0185 | 3 | HG00642.hp2 HG02809.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.2577+13309T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78076084 | ||||||
| chr5:78076376
|
G | A | 4 | a0001c0001t0001g0144a0001c0001t0001g0145a0001c0001t0001g0147others(1): Show | 4 | HG02109.hp2 HG02615.hp1 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.2577+13017C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78076376 | ||||||
| chr5:78076403
|
G | C | 4 | a0001c0001t0001g0144a0001c0001t0001g0145a0001c0001t0001g0147others(1): Show | 4 | HG02109.hp2 HG02615.hp1 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.2577+12990C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78076403 | ||||||
| chr5:78076425
|
G | A | 78 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(75): Show | 78 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(75): Show |
intron_variant | MODIFIER | c.2577+12968C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78076425 | ||||||
| chr5:78076516
|
G | A | 1 | a0003c0007t0002g0148 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.2577+12877C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78076516 | ||||||
| chr5:78076592
|
T | G | 3 | a0001c0001t0001g0075a0001c0001t0001g0082a0001c0001t0001g0126 | 3 | HG00735.hp2 HG02647.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.2577+12801A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78076592 | ||||||
| chr5:78077028
|
C | T | 78 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(75): Show | 78 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(75): Show |
intron_variant | MODIFIER | c.2577+12365G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78077028 | ||||||
| chr5:78077484
|
C | G | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.2577+11909G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78077484 | ||||||
| chr5:78077676
|
T | G | 79 | a0001c0001t0002g0011a0001c0002t0001g0138a0001c0002t0001g0139others(76): Show | 79 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(76): Show |
intron_variant | MODIFIER | c.2577+11717A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78077676 | ||||||
| chr5:78077683
|
G | GC | 42 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(39): Show | 42 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(39): Show |
intron_variant | MODIFIER | c.2577+11709dupG | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78077683 | ||||||
| chr5:78077893
|
C | T | 1 | a0001c0001t0001g0225 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.2577+11500G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78077893 | ||||||
| chr5:78077905
|
G | A | 2 | a0003c0009t0002g0074a0003c0009t0002g0078 | 2 | HG01884.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.2577+11488C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78077905 | ||||||
| chr5:78078135
|
T | C | 1 | a0006c0013t0002g0193 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.2577+11258A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78078135 | ||||||
| chr5:78078224
|
T | C | 67 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(64): Show | 67 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(64): Show |
intron_variant | MODIFIER | c.2577+11169A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78078224 | ||||||
| chr5:78078276
|
C | T | 1 | a0002c0003t0001g0070 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.2577+11117G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78078276 | ||||||
| chr5:78078277
|
G | A | 1 | a0001c0002t0002g0134 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.2577+11116C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78078277 | ||||||
| chr5:78078358
|
T | G | 1 | a0001c0004t0002g0226 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.2577+11035A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78078358 | ||||||
| chr5:78078681
|
T | C | 1 | a0001c0001t0001g0167 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.2577+10712A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78078681 | ||||||
| chr5:78078943
|
C | A | 1 | a0002c0003t0001g0080 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.2577+10450G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78078943 | ||||||
| chr5:78078962
|
T | G | 1 | a0001c0002t0002g0130 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.2577+10431A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78078962 | ||||||
| chr5:78079086
|
T | C | 1 | a0002c0003t0001g0057 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.2577+10307A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78079086 | ||||||
| chr5:78079102
|
C | T | 67 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(64): Show | 67 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(64): Show |
intron_variant | MODIFIER | c.2577+10291G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78079102 | ||||||
| chr5:78079509
|
C | A | 42 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(39): Show | 42 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(39): Show |
intron_variant | MODIFIER | c.2577+9884G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78079509 | ||||||
| chr5:78079801
|
A | C | 42 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(39): Show | 42 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(39): Show |
intron_variant | MODIFIER | c.2577+9592T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78079801 | ||||||
| chr5:78080089
|
A | G | 4 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0023others(1): Show | 4 | HG02523.hp2 NA18992.hp2 NA18995.hp1 others(1): Show |
intron_variant | MODIFIER | c.2577+9304T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78080089 | ||||||
| chr5:78080173
|
T | C | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.2577+9220A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78080173 | ||||||
| chr5:78080385
|
G | A | 17 | a0001c0004t0001g0087a0001c0004t0002g0006a0001c0004t0002g0007others(14): Show | 17 | HG00642.hp2 HG01168.hp1 HG01884.hp1 others(14): Show |
intron_variant | MODIFIER | c.2577+9008C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78080385 | ||||||
| chr5:78080407
|
C | T | 42 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(39): Show | 42 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(39): Show |
intron_variant | MODIFIER | c.2577+8986G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78080407 | ||||||
| chr5:78080453
|
CT | C | 21 | a0001c0001t0001g0144a0001c0001t0001g0145a0001c0001t0001g0207others(18): Show | 21 | HG01168.hp1 HG01358.hp2 HG01884.hp1 others(18): Show |
intron_variant | MODIFIER | c.2577+8939delA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78080453 | ||||||
| chr5:78080460
|
T | C | 1 | a0001c0001t0004g0129 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.2577+8933A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78080460 | ||||||
| chr5:78080472
|
C | CT | 17 | a0001c0001t0001g0206a0001c0004t0001g0087a0001c0004t0002g0006others(14): Show | 17 | HG00642.hp2 HG01070.hp2 HG01168.hp1 others(14): Show |
intron_variant | MODIFIER | c.2577+8920dupA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78080472 | ||||||
| chr5:78080623
|
A | AT | 18 | a0001c0001t0001g0042a0001c0001t0001g0083a0001c0001t0001g0084others(15): Show | 18 | HG00558.hp1 HG01358.hp1 HG01358.hp2 others(15): Show |
intron_variant | MODIFIER | c.2577+8769dupA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78080623 | ||||||
| chr5:78080623
|
A | ATT | 25 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0202others(22): Show | 25 | HG01258.hp1 HG01346.hp1 HG01934.hp1 others(22): Show |
intron_variant | MODIFIER | c.2577+8768_2577+876 others(6): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78080623 | ||||||
| chr5:78080623
|
A | ATTT | 6 | a0001c0001t0001g0032a0001c0001t0002g0025a0001c0001t0002g0026others(3): Show | 6 | HG01928.hp2 NA18972.hp1 NA18973.hp1 others(3): Show |
intron_variant | MODIFIER | c.2577+8767_2577+876 others(7): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78080623 | ||||||
| chr5:78080623
|
AT | A | 27 | a0001c0001t0001g0037a0001c0001t0001g0076a0001c0001t0001g0091others(24): Show | 27 | HG00099.hp2 HG00639.hp2 HG00735.hp2 others(24): Show |
intron_variant | MODIFIER | c.2577+8769delA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78080623 | ||||||
| chr5:78080623
|
ATTTTTTT others(2): Show |
A | 63 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(60): Show | 63 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(60): Show |
intron_variant | MODIFIER | c.2577+8761_2577+876 others(13): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78080623 | ||||||
| chr5:78080623
|
ATTTTTTT others(3): Show |
A | 2 | a0001c0002t0002g0154a0001c0004t0002g0007 | 2 | HG02809.hp2 NA18988.hp2 |
intron_variant | MODIFIER | c.2577+8760_2577+876 others(14): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78080623 | ||||||
| chr5:78080770
|
G | A | 2 | a0002c0003t0001g0044a0002c0003t0001g0056 | 2 | NA18969.hp2 NA18995.hp2 |
intron_variant | MODIFIER | c.2577+8623C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78080770 | ||||||
| chr5:78080849
|
A | C | 1 | a0001c0002t0002g0143 | 1 | NA18987.hp2 | intron_variant | MODIFIER | c.2577+8544T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78080849 | ||||||
| chr5:78081225
|
C | T | 31 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(28): Show | 31 | HG01258.hp1 HG01346.hp1 HG01928.hp2 others(28): Show |
intron_variant | MODIFIER | c.2577+8168G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78081225 | ||||||
| chr5:78081300
|
A | AT | 57 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(54): Show | 57 | HG00642.hp2 HG00735.hp1 HG01168.hp1 others(54): Show |
intron_variant | MODIFIER | c.2577+8092dupA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78081300 | ||||||
| chr5:78081300
|
AT | A | 9 | a0001c0002t0002g0151a0001c0002t0002g0153a0001c0004t0001g0005others(6): Show | 9 | HG02258.hp2 HG02615.hp2 HG03130.hp2 others(6): Show |
intron_variant | MODIFIER | c.2577+8092delA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78081300 | ||||||
| chr5:78081300
|
ATTTTTTT others(7): Show |
A | 13 | a0001c0001t0001g0076a0001c0001t0002g0011a0001c0012t0001g0142others(10): Show | 13 | HG01496.hp1 HG01884.hp2 HG02723.hp2 others(10): Show |
intron_variant | MODIFIER | c.2577+8079_2577+809 others(18): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78081300 | ||||||
| chr5:78081421
|
C | T | 13 | a0001c0001t0001g0076a0001c0001t0002g0011a0001c0012t0001g0142others(10): Show | 13 | HG01496.hp1 HG01884.hp2 HG02723.hp2 others(10): Show |
intron_variant | MODIFIER | c.2577+7972G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78081421 | ||||||
| chr5:78081455
|
C | T | 1 | a0001c0001t0001g0091 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.2577+7938G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78081455 | ||||||
| chr5:78081671
|
C | CA | 4 | a0001c0005t0002g0004a0001c0005t0002g0189a0001c0005t0002g0190others(1): Show | 4 | HG02055.hp2 HG02280.hp1 HG02630.hp2 others(1): Show |
intron_variant | MODIFIER | c.2577+7721dupT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78081671 | ||||||
| chr5:78081756
|
T | C | 1 | a0002c0003t0001g0061 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.2577+7637A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78081756 | ||||||
| chr5:78081828
|
C | T | 1 | a0002c0003t0001g0049 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.2577+7565G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78081828 | ||||||
| chr5:78081902
|
TA | T | 62 | a0001c0001t0001g0076a0001c0002t0001g0138a0001c0002t0001g0139others(59): Show | 62 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(59): Show |
intron_variant | MODIFIER | c.2577+7490delT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78081902 | ||||||
| chr5:78081912
|
AAAC | A | 17 | a0001c0004t0001g0087a0001c0004t0002g0006a0001c0004t0002g0007others(14): Show | 17 | HG00642.hp2 HG01168.hp1 HG01884.hp1 others(14): Show |
intron_variant | MODIFIER | c.2577+7478_2577+748 others(7): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78081912 | ||||||
| chr5:78082472
|
G | A | 1 | a0001c0004t0002g0186 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.2577+6921C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78082472 | ||||||
| chr5:78082537
|
T | C | 3 | a0001c0004t0002g0006a0001c0004t0002g0007a0001c0004t0002g0185 | 3 | HG00642.hp2 HG02809.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.2577+6856A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78082537 | ||||||
| chr5:78082627
|
G | C | 1 | a0001c0002t0002g0174 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.2577+6766C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78082627 | ||||||
| chr5:78082820
|
C | G | 67 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(64): Show | 67 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(64): Show |
intron_variant | MODIFIER | c.2577+6573G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78082820 | ||||||
| chr5:78082820
|
C | T | 1 | a0002c0003t0002g0031 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2577+6573G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78082820 | ||||||
| chr5:78082838
|
G | A | 1 | a0001c0004t0002g0006 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.2577+6555C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78082838 | ||||||
| chr5:78082849
|
C | T | 1 | a0001c0002t0002g0146 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.2577+6544G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78082849 | ||||||
| chr5:78082944
|
T | C | 1 | a0001c0001t0001g0110 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.2577+6449A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78082944 | ||||||
| chr5:78082964
|
C | T | 1 | a0001c0001t0002g0021 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.2577+6429G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78082964 | ||||||
| chr5:78083037
|
G | A | 14 | a0001c0004t0001g0087a0001c0004t0002g0085a0001c0005t0001g0195others(11): Show | 14 | HG01168.hp1 HG01884.hp1 HG02055.hp2 others(11): Show |
intron_variant | MODIFIER | c.2577+6356C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78083037 | ||||||
| chr5:78083053
|
C | T | 67 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(64): Show | 67 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(64): Show |
intron_variant | MODIFIER | c.2577+6340G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78083053 | ||||||
| chr5:78083156
|
T | C | 14 | a0001c0004t0001g0087a0001c0004t0002g0085a0001c0005t0001g0195others(11): Show | 14 | HG01168.hp1 HG01884.hp1 HG02055.hp2 others(11): Show |
intron_variant | MODIFIER | c.2577+6237A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78083156 | ||||||
| chr5:78083216
|
A | G | 5 | a0001c0004t0001g0087a0001c0004t0002g0085a0001c0005t0002g0187others(2): Show | 5 | HG02647.hp2 HG02809.hp1 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.2577+6177T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78083216 | ||||||
| chr5:78083589
|
C | T | 5 | a0001c0001t0002g0093a0001c0001t0002g0094a0001c0001t0002g0117others(2): Show | 5 | HG01258.hp1 HG01346.hp1 HG01934.hp1 others(2): Show |
intron_variant | MODIFIER | c.2577+5804G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78083589 | ||||||
| chr5:78083699
|
T | C | 1 | a0001c0001t0002g0033 | 1 | NA18972.hp1 | intron_variant | MODIFIER | c.2577+5694A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78083699 | ||||||
| chr5:78083925
|
G | C | 1 | a0001c0001t0002g0094 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.2577+5468C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78083925 | ||||||
| chr5:78083938
|
C | A | 4 | a0001c0001t0002g0025a0001c0001t0002g0026a0001c0001t0002g0027others(1): Show | 4 | NA18972.hp1 NA18973.hp1 NA18998.hp2 others(1): Show |
intron_variant | MODIFIER | c.2577+5455G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78083938 | ||||||
| chr5:78083986
|
T | A | 79 | a0001c0001t0001g0076a0001c0002t0001g0138a0001c0002t0001g0139others(76): Show | 79 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(76): Show |
intron_variant | MODIFIER | c.2577+5407A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78083986 | ||||||
| chr5:78084126
|
G | A | 12 | a0001c0001t0001g0076a0001c0012t0001g0142a0003c0007t0002g0072others(9): Show | 12 | HG01884.hp2 HG02723.hp2 HG02818.hp1 others(9): Show |
intron_variant | MODIFIER | c.2577+5267C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78084126 | ||||||
| chr5:78084270
|
C | T | 42 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(39): Show | 42 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(39): Show |
intron_variant | MODIFIER | c.2577+5123G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78084270 | ||||||
| chr5:78084343
|
T | C | 67 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(64): Show | 67 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(64): Show |
intron_variant | MODIFIER | c.2577+5050A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78084343 | ||||||
| chr5:78084439
|
G | C | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.2577+4954C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78084439 | ||||||
| chr5:78084503
|
G | A | 9 | a0001c0002t0002g0130a0001c0002t0002g0131a0001c0002t0002g0156others(6): Show | 9 | HG00735.hp1 HG01175.hp1 HG01361.hp2 others(6): Show |
intron_variant | MODIFIER | c.2577+4890C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78084503 | ||||||
| chr5:78084521
|
C | CA | 86 | a0001c0001t0001g0013a0001c0001t0001g0032a0001c0001t0001g0091others(83): Show | 86 | HG00280.hp2 HG00597.hp1 HG00597.hp2 others(83): Show |
intron_variant | MODIFIER | c.2577+4871dupT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78084521 | ||||||
| chr5:78084521
|
C | CAA | 12 | a0001c0001t0001g0029a0001c0001t0002g0015a0001c0001t0002g0028others(9): Show | 12 | HG01168.hp1 HG01175.hp1 HG01952.hp2 others(9): Show |
intron_variant | MODIFIER | c.2577+4870_2577+487 others(6): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78084521 | ||||||
| chr5:78084521
|
C | CAAA | 6 | a0001c0004t0001g0087a0001c0004t0002g0085a0001c0005t0002g0189others(3): Show | 6 | HG02280.hp1 HG02630.hp2 HG02809.hp1 others(3): Show |
intron_variant | MODIFIER | c.2577+4869_2577+487 others(7): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78084521 | ||||||
| chr5:78084521
|
C | CAAAA | 6 | a0001c0004t0002g0007a0001c0005t0001g0195a0001c0005t0002g0004others(3): Show | 6 | HG02055.hp2 HG02451.hp1 HG02647.hp2 others(3): Show |
intron_variant | MODIFIER | c.2577+4868_2577+487 others(8): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78084521 | ||||||
| chr5:78084521
|
CAAAAAAA others(7): Show |
C | 7 | a0001c0006t0001g0040a0001c0006t0001g0113a0001c0006t0001g0114others(4): Show | 7 | HG00099.hp1 HG01106.hp2 HG01256.hp2 others(4): Show |
intron_variant | MODIFIER | c.2577+4858_2577+487 others(18): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78084521 | ||||||
| chr5:78084842
|
T | C | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.2577+4551A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78084842 | ||||||
| chr5:78084875
|
C | T | 6 | a0001c0005t0001g0195a0001c0005t0002g0004a0001c0005t0002g0188others(3): Show | 6 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(3): Show |
intron_variant | MODIFIER | c.2577+4518G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78084875 | ||||||
| chr5:78084899
|
G | T | 159 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(156): Show | 159 | HG00099.hp2 HG00280.hp2 HG00558.hp1 others(156): Show |
intron_variant | MODIFIER | c.2577+4494C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78084899 | ||||||
| chr5:78084941
|
AC | A | 8 | a0001c0001t0001g0076a0001c0012t0001g0142a0003c0007t0002g0072others(5): Show | 8 | HG02723.hp2 HG02818.hp1 HG02818.hp2 others(5): Show |
intron_variant | MODIFIER | c.2577+4451delG | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78084941 | ||||||
| chr5:78085037
|
CACATAA | C | 12 | a0001c0001t0001g0076a0001c0012t0001g0142a0003c0007t0002g0072others(9): Show | 12 | HG01884.hp2 HG02723.hp2 HG02818.hp1 others(9): Show |
intron_variant | MODIFIER | c.2577+4350_2577+435 others(10): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78085037 | ||||||
| chr5:78085384
|
T | A | 14 | a0001c0004t0001g0087a0001c0004t0002g0085a0001c0005t0001g0195others(11): Show | 14 | HG01168.hp1 HG01884.hp1 HG02055.hp2 others(11): Show |
intron_variant | MODIFIER | c.2577+4009A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78085384 | ||||||
| chr5:78085561
|
C | T | 1 | a0001c0005t0002g0187 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.2577+3832G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78085561 | ||||||
| chr5:78085613
|
A | T | 187 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(184): Show | 187 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(184): Show |
intron_variant | MODIFIER | c.2577+3780T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78085613 | ||||||
| chr5:78085617
|
C | G | 42 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(39): Show | 42 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(39): Show |
intron_variant | MODIFIER | c.2577+3776G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78085617 | ||||||
| chr5:78085699
|
A | T | 67 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(64): Show | 67 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(64): Show |
intron_variant | MODIFIER | c.2577+3694T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78085699 | ||||||
| chr5:78085858
|
G | A | 10 | a0001c0004t0001g0087a0001c0004t0002g0085a0001c0005t0001g0195others(7): Show | 10 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(7): Show |
intron_variant | MODIFIER | c.2577+3535C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78085858 | ||||||
| chr5:78085939
|
G | A | 2 | a0003c0009t0002g0074a0003c0009t0002g0078 | 2 | HG01884.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.2577+3454C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78085939 | ||||||
| chr5:78085966
|
C | T | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.2577+3427G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78085966 | ||||||
| chr5:78086136
|
AC | A | 7 | a0001c0002t0002g0158a0001c0004t0001g0005a0001c0004t0002g0001others(4): Show | 7 | HG02258.hp2 HG02615.hp2 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.2577+3256delG | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78086136 | ||||||
| chr5:78086260
|
T | C | 1 | a0001c0001t0001g0200 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.2577+3133A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78086260 | ||||||
| chr5:78086407
|
A | G | 13 | a0001c0001t0001g0076a0001c0001t0002g0011a0001c0012t0001g0142others(10): Show | 13 | HG01496.hp1 HG01884.hp2 HG02723.hp2 others(10): Show |
intron_variant | MODIFIER | c.2577+2986T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78086407 | ||||||
| chr5:78086554
|
T | C | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.2577+2839A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78086554 | ||||||
| chr5:78086645
|
C | T | 1 | a0001c0005t0002g0194 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.2577+2748G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78086645 | ||||||
| chr5:78086662
|
C | T | 2 | a0001c0002t0001g0138a0001c0002t0001g0139 | 2 | HG00639.hp1 HG01106.hp1 |
intron_variant | MODIFIER | c.2577+2731G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78086662 | ||||||
| chr5:78086752
|
T | C | 42 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(39): Show | 42 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(39): Show |
intron_variant | MODIFIER | c.2577+2641A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78086752 | ||||||
| chr5:78086853
|
T | C | 30 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(27): Show | 30 | HG01258.hp1 HG01346.hp1 HG01928.hp2 others(27): Show |
intron_variant | MODIFIER | c.2577+2540A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78086853 | ||||||
| chr5:78086883
|
T | A | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.2577+2510A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78086883 | ||||||
| chr5:78086980
|
C | T | 1 | a0001c0001t0001g0217 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.2577+2413G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78086980 | ||||||
| chr5:78087042
|
G | C | 2 | a0001c0002t0002g0152a0001c0002t0002g0153 | 2 | HG03654.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.2577+2351C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78087042 | ||||||
| chr5:78087088
|
T | C | 5 | a0001c0001t0001g0104a0001c0001t0001g0106a0001c0001t0001g0107others(2): Show | 5 | HG01361.hp1 HG02109.hp1 HG02738.hp2 others(2): Show |
intron_variant | MODIFIER | c.2577+2305A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78087088 | ||||||
| chr5:78087356
|
G | C | 2 | a0001c0004t0002g0006a0001c0004t0002g0007 | 2 | HG02809.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.2577+2037C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78087356 | ||||||
| chr5:78087491
|
TC | T | 7 | a0001c0002t0002g0158a0001c0004t0001g0005a0001c0004t0002g0001others(4): Show | 7 | HG02258.hp2 HG02615.hp2 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.2577+1901delG | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78087491 | ||||||
| chr5:78087550
|
G | A | 1 | a0001c0005t0002g0189 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.2577+1843C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78087550 | ||||||
| chr5:78087795
|
A | G | 1 | a0001c0001t0001g0225 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.2577+1598T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78087795 | ||||||
| chr5:78087821
|
C | T | 1 | a0001c0001t0002g0015 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.2577+1572G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78087821 | ||||||
| chr5:78088363
|
T | C | 3 | a0001c0004t0002g0006a0001c0004t0002g0007a0001c0004t0002g0185 | 3 | HG00642.hp2 HG02809.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.2577+1030A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78088363 | ||||||
| chr5:78088472
|
G | A | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.2577+921C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | 78088472 | ||||||
| chr5:78089838
|
A | G | 1 | a0001c0004t0002g0186 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.2471-339T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78089838 | ||||||
| chr5:78089857
|
C | T | 67 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(64): Show | 67 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(64): Show |
intron_variant | MODIFIER | c.2471-358G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78089857 | ||||||
| chr5:78090252
|
T | C | 2 | a0001c0001t0001g0037a0001c0001t0001g0161 | 2 | HG03139.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.2471-753A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78090252 | ||||||
| chr5:78090289
|
A | C | 1 | a0001c0001t0002g0118 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.2471-790T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78090289 | ||||||
| chr5:78090433
|
C | T | 31 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(28): Show | 31 | HG01258.hp1 HG01346.hp1 HG01928.hp2 others(28): Show |
intron_variant | MODIFIER | c.2471-934G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78090433 | ||||||
| chr5:78090623
|
A | G | 4 | a0001c0005t0002g0187a0001c0005t0002g0194a0003c0009t0002g0074others(1): Show | 4 | HG01884.hp1 HG02451.hp2 HG02647.hp2 others(1): Show |
intron_variant | MODIFIER | c.2471-1124T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78090623 | ||||||
| chr5:78090867
|
AGCGGT | A | 5 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(2): Show | 5 | HG02258.hp2 HG02615.hp2 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.2471-1373_2471-136 others(9): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78090867 | ||||||
| chr5:78090870
|
G | A | 1 | a0001c0002t0002g0172 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.2471-1371C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78090870 | ||||||
| chr5:78090933
|
C | G | 1 | a0002c0003t0001g0071 | 1 | NA18973.hp2 | intron_variant | MODIFIER | c.2471-1434G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78090933 | ||||||
| chr5:78090937
|
C | CT | 68 | a0001c0001t0001g0208a0001c0001t0001g0222a0001c0002t0001g0138others(65): Show | 68 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(65): Show |
intron_variant | MODIFIER | c.2471-1439dupA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78090937 | ||||||
| chr5:78091076
|
A | G | 188 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(185): Show | 188 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(185): Show |
intron_variant | MODIFIER | c.2471-1577T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78091076 | ||||||
| chr5:78091138
|
A | G | 1 | a0001c0004t0001g0005 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.2471-1639T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78091138 | ||||||
| chr5:78091167
|
G | A | 44 | a0001c0001t0001g0208a0001c0001t0001g0222a0001c0002t0001g0138others(41): Show | 44 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(41): Show |
intron_variant | MODIFIER | c.2471-1668C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78091167 | ||||||
| chr5:78091268
|
T | C | 1 | a0001c0005t0002g0188 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.2471-1769A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78091268 | ||||||
| chr5:78091277
|
C | CA | 60 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(57): Show | 60 | HG00099.hp1 HG00558.hp2 HG01106.hp2 others(57): Show |
intron_variant | MODIFIER | c.2471-1779dupT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78091277 | ||||||
| chr5:78091277
|
C | CAA | 21 | a0001c0001t0001g0095a0001c0001t0001g0098a0001c0001t0001g0101others(18): Show | 21 | HG00642.hp2 HG01168.hp1 HG01496.hp2 others(18): Show |
intron_variant | MODIFIER | c.2471-1780_2471-177 others(6): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78091277 | ||||||
| chr5:78091404
|
G | C | 1 | a0001c0001t0001g0076 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.2471-1905C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78091404 | ||||||
| chr5:78091435
|
G | A | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.2471-1936C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78091435 | ||||||
| chr5:78091615
|
A | G | 70 | a0001c0001t0001g0208a0001c0001t0001g0222a0001c0002t0001g0138others(67): Show | 70 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(67): Show |
intron_variant | MODIFIER | c.2471-2116T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78091615 | ||||||
| chr5:78091801
|
T | C | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.2471-2302A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78091801 | ||||||
| chr5:78092032
|
T | G | 70 | a0001c0001t0001g0208a0001c0001t0001g0222a0001c0002t0001g0138others(67): Show | 70 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(67): Show |
intron_variant | MODIFIER | c.2471-2533A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78092032 | ||||||
| chr5:78092048
|
A | G | 31 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(28): Show | 31 | HG01258.hp1 HG01346.hp1 HG01928.hp2 others(28): Show |
intron_variant | MODIFIER | c.2471-2549T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78092048 | ||||||
| chr5:78092178
|
A | T | 1 | a0001c0005t0002g0004 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.2471-2679T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78092178 | ||||||
| chr5:78092392
|
T | C | 12 | a0001c0001t0002g0011a0001c0012t0001g0142a0003c0007t0002g0072others(9): Show | 12 | HG01496.hp1 HG01884.hp2 HG02723.hp2 others(9): Show |
intron_variant | MODIFIER | c.2471-2893A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78092392 | ||||||
| chr5:78092459
|
G | A | 1 | a0001c0001t0001g0216 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.2471-2960C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78092459 | ||||||
| chr5:78092582
|
G | A | 6 | a0001c0002t0002g0064a0001c0002t0002g0175a0001c0002t0002g0176others(3): Show | 6 | HG00280.hp2 HG00741.hp2 HG01070.hp1 others(3): Show |
intron_variant | MODIFIER | c.2471-3083C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78092582 | ||||||
| chr5:78092891
|
C | T | 9 | a0001c0004t0001g0087a0001c0004t0002g0085a0001c0005t0001g0195others(6): Show | 9 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.2471-3392G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78092891 | ||||||
| chr5:78093143
|
G | A | 1 | a0001c0001t0001g0201 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.2471-3644C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78093143 | ||||||
| chr5:78093258
|
T | C | 8 | a0001c0002t0002g0158a0001c0002t0002g0169a0001c0004t0001g0005others(5): Show | 8 | HG02135.hp1 HG02258.hp2 HG02615.hp2 others(5): Show |
intron_variant | MODIFIER | c.2471-3759A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78093258 | ||||||
| chr5:78093389
|
G | A | 26 | a0001c0002t0002g0064a0001c0002t0002g0130a0001c0002t0002g0131others(23): Show | 26 | HG00280.hp2 HG00735.hp1 HG00741.hp2 others(23): Show |
intron_variant | MODIFIER | c.2471-3890C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78093389 | ||||||
| chr5:78093751
|
T | C | 113 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(110): Show | 113 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(110): Show |
intron_variant | MODIFIER | c.2471-4252A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78093751 | ||||||
| chr5:78093776
|
G | A | 8 | a0001c0001t0002g0011a0001c0012t0001g0142a0003c0007t0002g0072others(5): Show | 8 | HG01496.hp1 HG02723.hp2 HG02818.hp1 others(5): Show |
intron_variant | MODIFIER | c.2471-4277C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78093776 | ||||||
| chr5:78093980
|
C | T | 1 | a0001c0001t0002g0023 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.2471-4481G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78093980 | ||||||
| chr5:78094090
|
A | C | 12 | a0001c0001t0002g0011a0001c0012t0001g0142a0003c0007t0002g0072others(9): Show | 12 | HG01496.hp1 HG01884.hp2 HG02723.hp2 others(9): Show |
intron_variant | MODIFIER | c.2471-4591T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78094090 | ||||||
| chr5:78094104
|
G | A | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.2471-4605C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78094104 | ||||||
| chr5:78094149
|
G | A | 80 | a0001c0001t0002g0011a0001c0002t0001g0138a0001c0002t0001g0139others(77): Show | 80 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(77): Show |
intron_variant | MODIFIER | c.2471-4650C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78094149 | ||||||
| chr5:78094535
|
G | C | 1 | a0001c0001t0001g0098 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.2471-5036C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78094535 | ||||||
| chr5:78094588
|
G | C | 1 | a0001c0001t0002g0028 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.2471-5089C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78094588 | ||||||
| chr5:78094670
|
C | T | 161 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(158): Show | 161 | HG00099.hp2 HG00280.hp2 HG00558.hp1 others(158): Show |
intron_variant | MODIFIER | c.2471-5171G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78094670 | ||||||
| chr5:78094674
|
T | C | 7 | a0001c0006t0001g0040a0001c0006t0001g0113a0001c0006t0001g0114others(4): Show | 7 | HG00099.hp1 HG01106.hp2 HG01256.hp2 others(4): Show |
intron_variant | MODIFIER | c.2471-5175A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78094674 | ||||||
| chr5:78094928
|
G | A | 1 | a0001c0002t0002g0174 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.2471-5429C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78094928 | ||||||
| chr5:78095026
|
C | T | 78 | a0001c0001t0002g0011a0001c0002t0001g0138a0001c0002t0001g0139others(75): Show | 78 | HG00280.hp2 HG00639.hp1 HG00642.hp2 others(75): Show |
intron_variant | MODIFIER | c.2471-5527G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78095026 | ||||||
| chr5:78095343
|
G | GA | 5 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(2): Show | 5 | HG02258.hp2 HG02615.hp2 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.2470+5609dupT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78095343 | ||||||
| chr5:78095641
|
T | C | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.2470+5312A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78095641 | ||||||
| chr5:78095697
|
T | C | 3 | a0001c0002t0002g0154a0001c0002t0002g0160a0001c0002t0002g0162 | 3 | NA18950.hp1 NA18988.hp2 NA19074.hp1 |
intron_variant | MODIFIER | c.2470+5256A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78095697 | ||||||
| chr5:78095753
|
C | T | 1 | a0001c0001t0001g0209 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.2470+5200G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78095753 | ||||||
| chr5:78096011
|
T | C | 4 | a0001c0005t0002g0004a0001c0005t0002g0189a0001c0005t0002g0190others(1): Show | 4 | HG02055.hp2 HG02280.hp1 HG02630.hp2 others(1): Show |
intron_variant | MODIFIER | c.2470+4942A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78096011 | ||||||
| chr5:78096058
|
C | T | 2 | a0001c0002t0002g0152a0001c0002t0002g0153 | 2 | HG03654.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.2470+4895G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78096058 | ||||||
| chr5:78096063
|
T | C | 81 | a0001c0001t0002g0011a0001c0002t0001g0138a0001c0002t0001g0139others(78): Show | 81 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(78): Show |
intron_variant | MODIFIER | c.2470+4890A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78096063 | ||||||
| chr5:78096122
|
T | G | 1 | a0001c0001t0001g0207 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.2470+4831A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78096122 | ||||||
| chr5:78096126
|
T | C | 1 | a0006c0013t0002g0193 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.2470+4827A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78096126 | ||||||
| chr5:78096155
|
C | T | 8 | a0001c0001t0002g0011a0001c0012t0001g0142a0003c0007t0002g0072others(5): Show | 8 | HG01496.hp1 HG02723.hp2 HG02818.hp1 others(5): Show |
intron_variant | MODIFIER | c.2470+4798G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78096155 | ||||||
| chr5:78096222
|
G | A | 42 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(39): Show | 42 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(39): Show |
intron_variant | MODIFIER | c.2470+4731C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78096222 | ||||||
| chr5:78096249
|
G | A | 1 | a0001c0002t0002g0168 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.2470+4704C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78096249 | ||||||
| chr5:78096271
|
C | T | 1 | a0002c0003t0001g0043 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.2470+4682G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78096271 | ||||||
| chr5:78096293
|
A | G | 81 | a0001c0001t0002g0011a0001c0002t0001g0138a0001c0002t0001g0139others(78): Show | 81 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(78): Show |
intron_variant | MODIFIER | c.2470+4660T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78096293 | ||||||
| chr5:78096312
|
G | A | 1 | a0001c0001t0001g0127 | 1 | NA19064.hp1 | intron_variant | MODIFIER | c.2470+4641C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78096312 | ||||||
| chr5:78096351
|
T | C | 68 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(65): Show | 68 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(65): Show |
intron_variant | MODIFIER | c.2470+4602A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78096351 | ||||||
| chr5:78096357
|
G | A | 8 | a0001c0001t0002g0011a0001c0012t0001g0142a0003c0007t0002g0072others(5): Show | 8 | HG01496.hp1 HG02723.hp2 HG02818.hp1 others(5): Show |
intron_variant | MODIFIER | c.2470+4596C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78096357 | ||||||
| chr5:78096379
|
C | T | 2 | a0001c0004t0002g0006a0001c0004t0002g0007 | 2 | HG02809.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.2470+4574G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78096379 | ||||||
| chr5:78096380
|
A | G | 80 | a0001c0001t0002g0011a0001c0002t0001g0138a0001c0002t0001g0139others(77): Show | 80 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(77): Show |
intron_variant | MODIFIER | c.2470+4573T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78096380 | ||||||
| chr5:78096403
|
T | C | 68 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(65): Show | 68 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(65): Show |
intron_variant | MODIFIER | c.2470+4550A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78096403 | ||||||
| chr5:78096579
|
C | T | 1 | a0001c0005t0002g0191 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.2470+4374G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78096579 | ||||||
| chr5:78096599
|
T | C | 8 | a0001c0002t0002g0158a0001c0002t0002g0169a0001c0004t0001g0005others(5): Show | 8 | HG02135.hp1 HG02258.hp2 HG02615.hp2 others(5): Show |
intron_variant | MODIFIER | c.2470+4354A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78096599 | ||||||
| chr5:78096676
|
G | A | 43 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(40): Show | 43 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(40): Show |
intron_variant | MODIFIER | c.2470+4277C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78096676 | ||||||
| chr5:78096729
|
A | G | 68 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(65): Show | 68 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(65): Show |
intron_variant | MODIFIER | c.2470+4224T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78096729 | ||||||
| chr5:78096739
|
TGCCCCGT others(33): Show |
T | 1 | a0001c0002t0002g0064 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.2470+4174_2470+421 others(44): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78096739 | ||||||
| chr5:78096802
|
C | T | 8 | a0001c0002t0002g0158a0001c0002t0002g0169a0001c0004t0001g0005others(5): Show | 8 | HG02135.hp1 HG02258.hp2 HG02615.hp2 others(5): Show |
intron_variant | MODIFIER | c.2470+4151G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78096802 | ||||||
| chr5:78096813
|
G | A | 31 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(28): Show | 31 | HG01258.hp1 HG01346.hp1 HG01928.hp2 others(28): Show |
intron_variant | MODIFIER | c.2470+4140C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78096813 | ||||||
| chr5:78096857
|
AGGCCAGC others(168): Show |
A | 3 | a0001c0001t0001g0197a0001c0001t0001g0215a0001c0001t0001g0216 | 3 | HG02523.hp1 NA19063.hp2 NA19081.hp1 |
intron_variant | MODIFIER | c.2470+3921_2470+409 others(4): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78096857 | ||||||
| chr5:78096870
|
C | T | 8 | a0001c0002t0002g0158a0001c0002t0002g0169a0001c0004t0001g0005others(5): Show | 8 | HG02135.hp1 HG02258.hp2 HG02615.hp2 others(5): Show |
intron_variant | MODIFIER | c.2470+4083G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78096870 | ||||||
| chr5:78096874
|
C | T | 2 | a0001c0004t0002g0006a0001c0004t0002g0007 | 2 | HG02809.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.2470+4079G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78096874 | ||||||
| chr5:78096918
|
TGTCCGGG others(217): Show |
T | 1 | a0001c0001t0001g0127 | 1 | NA19064.hp1 | intron_variant | MODIFIER | c.2470+3811_2470+403 others(4): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78096918 | ||||||
| chr5:78096950
|
C | T | 25 | a0001c0001t0001g0095a0001c0001t0001g0096a0001c0001t0001g0098others(22): Show | 25 | HG00099.hp1 HG00558.hp2 HG01106.hp2 others(22): Show |
intron_variant | MODIFIER | c.2470+4003G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78096950 | ||||||
| chr5:78096992
|
GCCCTGTC others(217): Show |
G | 15 | a0001c0004t0001g0087a0001c0004t0002g0006a0001c0004t0002g0085others(12): Show | 15 | HG01168.hp1 HG01884.hp1 HG02055.hp2 others(12): Show |
intron_variant | MODIFIER | c.2470+3737_2470+396 others(4): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78096992 | ||||||
| chr5:78096996
|
T | C | 53 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(50): Show | 53 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(50): Show |
intron_variant | MODIFIER | c.2470+3957A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78096996 | ||||||
| chr5:78096996
|
TGTCCGGG others(42): Show |
T | 12 | a0001c0001t0002g0011a0001c0012t0001g0142a0003c0007t0002g0072others(9): Show | 12 | HG01496.hp1 HG01884.hp2 HG02723.hp2 others(9): Show |
intron_variant | MODIFIER | c.2470+3908_2470+395 others(53): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78096996 | ||||||
| chr5:78097012
|
GGGGGGGT others(42): Show |
G | 1 | a0001c0001t0001g0110 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.2470+3892_2470+394 others(53): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78097012 | ||||||
| chr5:78097012
|
GGGGGGGT others(216): Show |
G | 2 | a0001c0004t0002g0007a0001c0004t0002g0185 | 2 | HG00642.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.2470+3718_2470+394 others(4): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78097012 | ||||||
| chr5:78097028
|
C | T | 1 | a0001c0001t0002g0034 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.2470+3925G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78097028 | ||||||
| chr5:78097039
|
C | A | 7 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0144others(4): Show | 7 | HG00741.hp1 HG02109.hp2 HG02615.hp1 others(4): Show |
intron_variant | MODIFIER | c.2470+3914G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78097039 | ||||||
| chr5:78097061
|
T | G | 51 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(48): Show | 51 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(48): Show |
intron_variant | MODIFIER | c.2470+3892A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78097061 | ||||||
| chr5:78097071
|
G | GC | 9 | a0001c0002t0002g0158a0001c0002t0002g0169a0001c0004t0001g0005others(6): Show | 9 | HG02135.hp1 HG02258.hp2 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.2470+3881dupG | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78097071 | ||||||
| chr5:78097078
|
GCCCGGCC others(41): Show |
G | 7 | a0001c0001t0002g0093a0001c0001t0002g0094a0001c0001t0002g0117others(4): Show | 7 | HG01258.hp1 HG01346.hp1 HG01934.hp1 others(4): Show |
intron_variant | MODIFIER | c.2470+3827_2470+387 others(52): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78097078 | ||||||
| chr5:78097095
|
G | A | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.2470+3858C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78097095 | ||||||
| chr5:78097109
|
T | G | 45 | a0001c0001t0001g0208a0001c0001t0001g0222a0001c0002t0001g0138others(42): Show | 45 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(42): Show |
intron_variant | MODIFIER | c.2470+3844A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78097109 | ||||||
| chr5:78097127
|
C | A | 1 | a0002c0003t0001g0080 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.2470+3826G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78097127 | ||||||
| chr5:78097203
|
TGCCCGGC others(42): Show |
T | 1 | a0001c0004t0001g0005 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.2470+3701_2470+374 others(53): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78097203 | ||||||
| chr5:78097222
|
T | C | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.2470+3731A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78097222 | ||||||
| chr5:78097236
|
G | A | 1 | a0002c0003t0001g0060 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.2470+3717C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78097236 | ||||||
| chr5:78097253
|
G | A | 1 | a0001c0004t0002g0003 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.2470+3700C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78097253 | ||||||
| chr5:78097256
|
C | T | 3 | a0001c0001t0001g0037a0001c0001t0001g0161a0001c0001t0001g0173 | 3 | HG03139.hp2 HG03516.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.2470+3697G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78097256 | ||||||
| chr5:78097264
|
C | A | 79 | a0001c0001t0002g0011a0001c0002t0001g0138a0001c0002t0001g0139others(76): Show | 79 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(76): Show |
intron_variant | MODIFIER | c.2470+3689G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78097264 | ||||||
| chr5:78097265
|
A | G | 79 | a0001c0001t0002g0011a0001c0002t0001g0138a0001c0002t0001g0139others(76): Show | 79 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(76): Show |
intron_variant | MODIFIER | c.2470+3688T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78097265 | ||||||
| chr5:78097354
|
C | T | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.2470+3599G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78097354 | ||||||
| chr5:78097383
|
A | G | 225 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(222): Show | 225 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(222): Show |
intron_variant | MODIFIER | c.2470+3570T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78097383 | ||||||
| chr5:78097480
|
C | T | 1 | a0006c0013t0002g0193 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.2470+3473G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78097480 | ||||||
| chr5:78097508
|
TG | T | 68 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(65): Show | 68 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(65): Show |
intron_variant | MODIFIER | c.2470+3444delC | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78097508 | ||||||
| chr5:78097520
|
C | G | 8 | a0001c0002t0002g0158a0001c0002t0002g0169a0001c0004t0001g0005others(5): Show | 8 | HG02135.hp1 HG02258.hp2 HG02615.hp2 others(5): Show |
intron_variant | MODIFIER | c.2470+3433G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78097520 | ||||||
| chr5:78097525
|
C | T | 68 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(65): Show | 68 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(65): Show |
intron_variant | MODIFIER | c.2470+3428G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78097525 | ||||||
| chr5:78097538
|
G | A | 68 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(65): Show | 68 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(65): Show |
intron_variant | MODIFIER | c.2470+3415C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78097538 | ||||||
| chr5:78097539
|
C | T | 68 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(65): Show | 68 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(65): Show |
intron_variant | MODIFIER | c.2470+3414G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78097539 | ||||||
| chr5:78097547
|
G | A | 7 | a0001c0006t0001g0040a0001c0006t0001g0113a0001c0006t0001g0114others(4): Show | 7 | HG00099.hp1 HG01106.hp2 HG01256.hp2 others(4): Show |
intron_variant | MODIFIER | c.2470+3406C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78097547 | ||||||
| chr5:78097547
|
G | C | 42 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(39): Show | 42 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(39): Show |
intron_variant | MODIFIER | c.2470+3406C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78097547 | ||||||
| chr5:78097557
|
T | TGG | 67 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(64): Show | 67 | HG00280.hp2 HG00639.hp1 HG00642.hp2 others(64): Show |
intron_variant | MODIFIER | c.2470+3395_2470+339 others(6): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78097557 | ||||||
| chr5:78097558
|
A | G | 1 | a0001c0002t0001g0182 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.2470+3395T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78097558 | ||||||
| chr5:78097577
|
C | T | 68 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(65): Show | 68 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(65): Show |
intron_variant | MODIFIER | c.2470+3376G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78097577 | ||||||
| chr5:78097585
|
C | A | 68 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(65): Show | 68 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(65): Show |
intron_variant | MODIFIER | c.2470+3368G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78097585 | ||||||
| chr5:78097589
|
C | T | 1 | a0001c0001t0001g0161 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.2470+3364G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78097589 | ||||||
| chr5:78097590
|
C | T | 1 | a0001c0002t0002g0174 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.2470+3363G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78097590 | ||||||
| chr5:78097594
|
C | T | 43 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(40): Show | 43 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(40): Show |
intron_variant | MODIFIER | c.2470+3359G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78097594 | ||||||
| chr5:78097605
|
T | G | 1 | a0001c0001t0001g0161 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.2470+3348A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78097605 | ||||||
| chr5:78097606
|
G | GC | 12 | a0001c0001t0002g0011a0001c0012t0001g0142a0003c0007t0002g0072others(9): Show | 12 | HG01496.hp1 HG01884.hp2 HG02723.hp2 others(9): Show |
intron_variant | MODIFIER | c.2470+3346_2470+334 others(5): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78097606 | ||||||
| chr5:78097606
|
G | GTGCCTCT others(17): Show |
1 | a0001c0001t0001g0161 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.2470+3346_2470+334 others(28): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78097606 | ||||||
| chr5:78097610
|
G | A | 1 | a0001c0001t0001g0161 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.2470+3343C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78097610 | ||||||
| chr5:78097611
|
G | A | 1 | a0001c0001t0001g0161 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.2470+3342C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78097611 | ||||||
| chr5:78097612
|
G | C | 12 | a0001c0001t0002g0011a0001c0012t0001g0142a0003c0007t0002g0072others(9): Show | 12 | HG01496.hp1 HG01884.hp2 HG02723.hp2 others(9): Show |
intron_variant | MODIFIER | c.2470+3341C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78097612 | ||||||
| chr5:78097614
|
C | G | 1 | a0001c0001t0001g0161 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.2470+3339G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78097614 | ||||||
| chr5:78097620
|
C | T | 1 | a0001c0001t0001g0161 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.2470+3333G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78097620 | ||||||
| chr5:78097654
|
T | TG | 43 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(40): Show | 43 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(40): Show |
intron_variant | MODIFIER | c.2470+3298dupC | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78097654 | ||||||
| chr5:78097661
|
G | A | 1 | a0001c0001t0001g0096 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.2470+3292C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78097661 | ||||||
| chr5:78097666
|
C | T | 68 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(65): Show | 68 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(65): Show |
intron_variant | MODIFIER | c.2470+3287G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78097666 | ||||||
| chr5:78097704
|
G | A | 1 | a0001c0001t0001g0029 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.2470+3249C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78097704 | ||||||
| chr5:78097818
|
T | C | 1 | a0001c0001t0002g0118 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.2470+3135A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78097818 | ||||||
| chr5:78097837
|
G | T | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.2470+3116C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78097837 | ||||||
| chr5:78097879
|
G | A | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.2470+3074C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78097879 | ||||||
| chr5:78097879
|
G | C | 1 | a0001c0001t0001g0204 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.2470+3074C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78097879 | ||||||
| chr5:78097880
|
G | A | 1 | a0001c0001t0001g0204 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.2470+3073C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78097880 | ||||||
| chr5:78097928
|
G | C | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.2470+3025C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78097928 | ||||||
| chr5:78098043
|
G | A | 51 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(48): Show | 51 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(48): Show |
intron_variant | MODIFIER | c.2470+2910C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78098043 | ||||||
| chr5:78098094
|
A | G | 1 | a0001c0001t0001g0091 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.2470+2859T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78098094 | ||||||
| chr5:78098127
|
G | A | 68 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(65): Show | 68 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(65): Show |
intron_variant | MODIFIER | c.2470+2826C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78098127 | ||||||
| chr5:78098152
|
G | T | 68 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(65): Show | 68 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(65): Show |
intron_variant | MODIFIER | c.2470+2801C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78098152 | ||||||
| chr5:78098190
|
C | T | 1 | a0001c0001t0001g0198 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.2470+2763G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78098190 | ||||||
| chr5:78098199
|
A | G | 17 | a0001c0004t0001g0087a0001c0004t0002g0006a0001c0004t0002g0007others(14): Show | 17 | HG00642.hp2 HG01168.hp1 HG01884.hp1 others(14): Show |
intron_variant | MODIFIER | c.2470+2754T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78098199 | ||||||
| chr5:78098202
|
T | C | 1 | a0001c0001t0002g0025 | 1 | NA18973.hp1 | intron_variant | MODIFIER | c.2470+2751A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78098202 | ||||||
| chr5:78098304
|
TA | T | 68 | a0001c0001t0002g0159a0001c0002t0001g0138a0001c0002t0001g0139others(65): Show | 68 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(65): Show |
intron_variant | MODIFIER | c.2470+2648delT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78098304 | ||||||
| chr5:78098693
|
T | C | 43 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(40): Show | 43 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(40): Show |
intron_variant | MODIFIER | c.2470+2260A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78098693 | ||||||
| chr5:78098703
|
T | A | 2 | a0001c0001t0001g0201a0001c0001t0001g0221 | 2 | HG02735.hp2 HG04228.hp2 |
intron_variant | MODIFIER | c.2470+2250A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78098703 | ||||||
| chr5:78098705
|
C | T | 1 | a0001c0001t0001g0091 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.2470+2248G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78098705 | ||||||
| chr5:78098844
|
G | A | 2 | a0003c0009t0002g0074a0003c0009t0002g0078 | 2 | HG01884.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.2470+2109C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78098844 | ||||||
| chr5:78098901
|
AGACAAGA others(2): Show |
A | 5 | a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0002g0048others(2): Show | 5 | HG02055.hp1 HG02258.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2470+2043_2470+205 others(13): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78098901 | ||||||
| chr5:78099037
|
G | C | 14 | a0001c0004t0001g0087a0001c0004t0002g0085a0001c0005t0001g0195others(11): Show | 14 | HG01168.hp1 HG01884.hp1 HG02055.hp2 others(11): Show |
intron_variant | MODIFIER | c.2470+1916C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78099037 | ||||||
| chr5:78099157
|
T | A | 68 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(65): Show | 68 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(65): Show |
intron_variant | MODIFIER | c.2470+1796A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78099157 | ||||||
| chr5:78099187
|
G | T | 1 | a0002c0003t0001g0057 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.2470+1766C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78099187 | ||||||
| chr5:78099210
|
C | T | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.2470+1743G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78099210 | ||||||
| chr5:78099294
|
A | G | 14 | a0001c0004t0001g0087a0001c0004t0002g0085a0001c0005t0001g0195others(11): Show | 14 | HG01168.hp1 HG01884.hp1 HG02055.hp2 others(11): Show |
intron_variant | MODIFIER | c.2470+1659T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78099294 | ||||||
| chr5:78099307
|
T | C | 1 | a0001c0001t0002g0051 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.2470+1646A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78099307 | ||||||
| chr5:78099521
|
T | C | 1 | a0001c0001t0002g0030 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.2470+1432A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78099521 | ||||||
| chr5:78099652
|
G | A | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.2470+1301C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78099652 | ||||||
| chr5:78099732
|
A | G | 1 | a0001c0004t0002g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.2470+1221T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78099732 | ||||||
| chr5:78099738
|
A | T | 1 | a0001c0001t0002g0014 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.2470+1215T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78099738 | ||||||
| chr5:78099741
|
T | A | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.2470+1212A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78099741 | ||||||
| chr5:78099760
|
G | A | 42 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(39): Show | 42 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(39): Show |
intron_variant | MODIFIER | c.2470+1193C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78099760 | ||||||
| chr5:78099792
|
G | A | 1 | a0001c0005t0002g0192 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.2470+1161C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78099792 | ||||||
| chr5:78100244
|
C | G | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.2470+709G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78100244 | ||||||
| chr5:78100576
|
T | G | 70 | a0001c0001t0001g0208a0001c0001t0001g0222a0001c0002t0001g0138others(67): Show | 70 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(67): Show |
intron_variant | MODIFIER | c.2470+377A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78100576 | ||||||
| chr5:78100654
|
T | G | 1 | a0002c0003t0001g0061 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.2470+299A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | 78100654 | ||||||
| chr5:78101243
|
G | A | 12 | a0001c0001t0002g0011a0001c0012t0001g0142a0003c0007t0002g0072others(9): Show | 12 | HG01496.hp1 HG01884.hp2 HG02723.hp2 others(9): Show |
intron_variant | MODIFIER | c.2398-218C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78101243 | ||||||
| chr5:78101249
|
A | C | 1 | a0002c0003t0001g0059 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.2398-224T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78101249 | ||||||
| chr5:78101280
|
T | C | 2 | a0003c0009t0002g0074a0003c0009t0002g0078 | 2 | HG01884.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.2398-255A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78101280 | ||||||
| chr5:78101429
|
T | C | 17 | a0001c0004t0001g0087a0001c0004t0002g0006a0001c0004t0002g0007others(14): Show | 17 | HG00642.hp2 HG01168.hp1 HG01884.hp1 others(14): Show |
intron_variant | MODIFIER | c.2398-404A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78101429 | ||||||
| chr5:78101430
|
T | C | 2 | a0002c0003t0001g0090a0009c0016t0001g0089 | 2 | NA18952.hp1 NA18956.hp1 |
intron_variant | MODIFIER | c.2398-405A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78101430 | ||||||
| chr5:78101560
|
C | T | 1 | a0001c0001t0001g0075 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.2398-535G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78101560 | ||||||
| chr5:78101676
|
A | G | 1 | a0001c0002t0002g0175 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.2398-651T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78101676 | ||||||
| chr5:78101788
|
T | A | 70 | a0001c0001t0001g0208a0001c0001t0001g0222a0001c0002t0001g0138others(67): Show | 70 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(67): Show |
intron_variant | MODIFIER | c.2398-763A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78101788 | ||||||
| chr5:78101858
|
G | A | 68 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(65): Show | 68 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(65): Show |
intron_variant | MODIFIER | c.2398-833C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78101858 | ||||||
| chr5:78101916
|
A | C | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.2398-891T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78101916 | ||||||
| chr5:78102068
|
C | T | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.2398-1043G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78102068 | ||||||
| chr5:78102427
|
C | T | 31 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(28): Show | 31 | HG01258.hp1 HG01346.hp1 HG01928.hp2 others(28): Show |
intron_variant | MODIFIER | c.2398-1402G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78102427 | ||||||
| chr5:78102805
|
G | A | 43 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(40): Show | 43 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(40): Show |
intron_variant | MODIFIER | c.2398-1780C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78102805 | ||||||
| chr5:78102954
|
G | C | 1 | a0001c0001t0001g0111 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.2398-1929C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78102954 | ||||||
| chr5:78102989
|
T | C | 1 | a0001c0001t0002g0017 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.2398-1964A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78102989 | ||||||
| chr5:78103197
|
C | T | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.2398-2172G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78103197 | ||||||
| chr5:78103226
|
G | A | 68 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(65): Show | 68 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(65): Show |
intron_variant | MODIFIER | c.2398-2201C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78103226 | ||||||
| chr5:78103229
|
G | A | 1 | a0001c0004t0002g0003 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.2398-2204C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78103229 | ||||||
| chr5:78103397
|
C | T | 11 | a0001c0012t0001g0142a0003c0007t0002g0072a0003c0007t0002g0079others(8): Show | 11 | HG01884.hp2 HG02723.hp2 HG02818.hp1 others(8): Show |
intron_variant | MODIFIER | c.2398-2372G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78103397 | ||||||
| chr5:78103768
|
A | G | 1 | a0001c0001t0001g0096 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.2398-2743T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78103768 | ||||||
| chr5:78104012
|
A | G | 1 | a0002c0003t0001g0066 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.2398-2987T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78104012 | ||||||
| chr5:78104076
|
T | C | 1 | a0001c0001t0001g0201 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.2398-3051A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78104076 | ||||||
| chr5:78104117
|
A | G | 3 | a0001c0004t0002g0006a0001c0004t0002g0007a0001c0004t0002g0185 | 3 | HG00642.hp2 HG02809.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.2398-3092T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78104117 | ||||||
| chr5:78104168
|
A | C | 2 | a0001c0001t0001g0208a0001c0001t0001g0222 | 2 | NA18950.hp2 NA18952.hp2 |
intron_variant | MODIFIER | c.2398-3143T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78104168 | ||||||
| chr5:78104368
|
C | T | 2 | a0001c0002t0002g0158a0001c0002t0002g0169 | 2 | HG02135.hp1 NA19002.hp2 |
intron_variant | MODIFIER | c.2398-3343G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78104368 | ||||||
| chr5:78104369
|
G | T | 3 | a0001c0001t0001g0075a0001c0001t0001g0082a0001c0001t0001g0126 | 3 | HG00735.hp2 HG02647.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.2398-3344C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78104369 | ||||||
| chr5:78104432
|
T | C | 3 | a0001c0004t0002g0006a0001c0004t0002g0007a0001c0004t0002g0185 | 3 | HG00642.hp2 HG02809.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.2398-3407A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78104432 | ||||||
| chr5:78104524
|
A | T | 1 | a0002c0003t0001g0047 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.2398-3499T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78104524 | ||||||
| chr5:78104740
|
C | A | 42 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(39): Show | 42 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(39): Show |
intron_variant | MODIFIER | c.2398-3715G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78104740 | ||||||
| chr5:78104744
|
T | C | 1 | a0001c0001t0002g0011 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.2398-3719A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78104744 | ||||||
| chr5:78104750
|
G | A | 14 | a0001c0004t0001g0087a0001c0004t0002g0085a0001c0005t0001g0195others(11): Show | 14 | HG01168.hp1 HG01884.hp1 HG02055.hp2 others(11): Show |
intron_variant | MODIFIER | c.2398-3725C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78104750 | ||||||
| chr5:78104812
|
G | A | 14 | a0001c0004t0001g0087a0001c0004t0002g0085a0001c0005t0001g0195others(11): Show | 14 | HG01168.hp1 HG01884.hp1 HG02055.hp2 others(11): Show |
intron_variant | MODIFIER | c.2398-3787C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78104812 | ||||||
| chr5:78105182
|
T | C | 1 | a0001c0005t0002g0187 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.2398-4157A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78105182 | ||||||
| chr5:78105244
|
T | C | 5 | a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0002g0048others(2): Show | 5 | HG02055.hp1 HG02258.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2398-4219A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78105244 | ||||||
| chr5:78105263
|
AGTGGACT others(6): Show |
A | 42 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(39): Show | 42 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(39): Show |
intron_variant | MODIFIER | c.2398-4251_2398-423 others(17): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78105263 | ||||||
| chr5:78105276
|
C | T | 1 | a0003c0007t0002g0081 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2398-4251G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78105276 | ||||||
| chr5:78105328
|
G | A | 79 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(76): Show | 79 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(76): Show |
intron_variant | MODIFIER | c.2398-4303C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78105328 | ||||||
| chr5:78105548
|
TA | T | 2 | a0001c0004t0002g0006a0001c0004t0002g0007 | 2 | HG02809.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.2398-4524delT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78105548 | ||||||
| chr5:78105550
|
TA | T | 66 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(63): Show | 66 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(63): Show |
intron_variant | MODIFIER | c.2398-4526delT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78105550 | ||||||
| chr5:78105551
|
A | T | 2 | a0001c0004t0002g0006a0001c0004t0002g0007 | 2 | HG02809.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.2398-4526T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78105551 | ||||||
| chr5:78105861
|
G | T | 1 | a0001c0004t0002g0226 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.2397+4346C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78105861 | ||||||
| chr5:78105878
|
C | T | 2 | a0001c0001t0001g0037a0001c0001t0001g0161 | 2 | HG03139.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.2397+4329G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78105878 | ||||||
| chr5:78106020
|
T | C | 1 | a0001c0001t0001g0104 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.2397+4187A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78106020 | ||||||
| chr5:78106329
|
A | G | 2 | a0001c0004t0002g0006a0001c0004t0002g0007 | 2 | HG02809.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.2397+3878T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78106329 | ||||||
| chr5:78106391
|
G | A | 2 | a0001c0002t0002g0158a0001c0002t0002g0169 | 2 | HG02135.hp1 NA19002.hp2 |
intron_variant | MODIFIER | c.2397+3816C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78106391 | ||||||
| chr5:78106462
|
A | AAAAG | 39 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(36): Show | 39 | HG00280.hp2 HG00639.hp1 HG00735.hp1 others(36): Show |
intron_variant | MODIFIER | c.2397+3741_2397+374 others(8): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78106462 | ||||||
| chr5:78106462
|
A | G | 1 | a0001c0005t0002g0192 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.2397+3745T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78106462 | ||||||
| chr5:78106563
|
G | A | 1 | a0001c0005t0002g0192 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.2397+3644C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78106563 | ||||||
| chr5:78106683
|
A | T | 1 | a0002c0003t0001g0219 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.2397+3524T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78106683 | ||||||
| chr5:78106733
|
C | T | 43 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(40): Show | 43 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(40): Show |
intron_variant | MODIFIER | c.2397+3474G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78106733 | ||||||
| chr5:78106853
|
T | C | 1 | a0001c0002t0001g0180 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.2397+3354A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78106853 | ||||||
| chr5:78106947
|
A | G | 14 | a0001c0004t0001g0087a0001c0004t0002g0085a0001c0005t0001g0195others(11): Show | 14 | HG01168.hp1 HG01884.hp1 HG02055.hp2 others(11): Show |
intron_variant | MODIFIER | c.2397+3260T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78106947 | ||||||
| chr5:78106965
|
C | A | 2 | a0002c0003t0001g0053a0002c0003t0001g0054 | 2 | NA19070.hp2 NA19083.hp2 |
intron_variant | MODIFIER | c.2397+3242G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78106965 | ||||||
| chr5:78107084
|
A | G | 2 | a0001c0004t0002g0006a0001c0004t0002g0007 | 2 | HG02809.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.2397+3123T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78107084 | ||||||
| chr5:78107230
|
T | C | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.2397+2977A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78107230 | ||||||
| chr5:78107345
|
G | A | 12 | a0001c0001t0002g0011a0001c0012t0001g0142a0003c0007t0002g0072others(9): Show | 12 | HG01496.hp1 HG01884.hp2 HG02723.hp2 others(9): Show |
intron_variant | MODIFIER | c.2397+2862C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78107345 | ||||||
| chr5:78107669
|
C | G | 2 | a0001c0005t0002g0004a0001c0005t0002g0190 | 2 | HG02055.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.2397+2538G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78107669 | ||||||
| chr5:78107897
|
G | A | 65 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(62): Show | 65 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(62): Show |
intron_variant | MODIFIER | c.2397+2310C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78107897 | ||||||
| chr5:78107921
|
T | A | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.2397+2286A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78107921 | ||||||
| chr5:78107989
|
A | G | 1 | a0001c0004t0002g0186 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.2397+2218T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78107989 | ||||||
| chr5:78108303
|
C | T | 1 | a0001c0001t0001g0225 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.2397+1904G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78108303 | ||||||
| chr5:78108764
|
C | G | 14 | a0001c0004t0001g0087a0001c0004t0002g0085a0001c0005t0001g0195others(11): Show | 14 | HG01168.hp1 HG01884.hp1 HG02055.hp2 others(11): Show |
intron_variant | MODIFIER | c.2397+1443G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78108764 | ||||||
| chr5:78108786
|
G | A | 1 | a0008c0011t0002g0165 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.2397+1421C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78108786 | ||||||
| chr5:78108895
|
T | G | 1 | a0001c0005t0002g0192 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.2397+1312A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78108895 | ||||||
| chr5:78108951
|
G | A | 1 | a0002c0003t0001g0060 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.2397+1256C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78108951 | ||||||
| chr5:78109125
|
A | C | 31 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(28): Show | 31 | HG01258.hp1 HG01346.hp1 HG01928.hp2 others(28): Show |
intron_variant | MODIFIER | c.2397+1082T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78109125 | ||||||
| chr5:78109329
|
C | T | 42 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(39): Show | 42 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(39): Show |
intron_variant | MODIFIER | c.2397+878G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78109329 | ||||||
| chr5:78109405
|
G | A | 31 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(28): Show | 31 | HG01258.hp1 HG01346.hp1 HG01928.hp2 others(28): Show |
intron_variant | MODIFIER | c.2397+802C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78109405 | ||||||
| chr5:78109440
|
A | T | 2 | a0001c0006t0001g0113a0001c0006t0001g0114 | 2 | HG01256.hp2 HG01258.hp2 |
intron_variant | MODIFIER | c.2397+767T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78109440 | ||||||
| chr5:78109703
|
T | A | 4 | a0001c0005t0002g0004a0001c0005t0002g0189a0001c0005t0002g0190others(1): Show | 4 | HG02055.hp2 HG02280.hp1 HG02630.hp2 others(1): Show |
intron_variant | MODIFIER | c.2397+504A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78109703 | ||||||
| chr5:78109875
|
G | A | 8 | a0001c0002t0002g0158a0001c0002t0002g0169a0001c0004t0001g0005others(5): Show | 8 | HG02135.hp1 HG02258.hp2 HG02615.hp2 others(5): Show |
intron_variant | MODIFIER | c.2397+332C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78109875 | ||||||
| chr5:78109968
|
A | AC | 13 | a0001c0001t0002g0011a0001c0012t0001g0142a0003c0007t0002g0072others(10): Show | 13 | HG01496.hp1 HG01884.hp2 HG02723.hp1 others(10): Show |
intron_variant | MODIFIER | c.2397+238dupG | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | 78109968 | ||||||
| chr5:78110684
|
C | CTG | 57 | a0001c0001t0001g0147a0001c0001t0001g0201a0001c0001t0001g0208others(54): Show | 57 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(54): Show |
intron_variant | MODIFIER | c.2250-332_2250-331d others(4): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 19/26 | chr5 | 78110684 | ||||||
| chr5:78110684
|
C | CTGTG | 35 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0002g0012others(32): Show | 35 | HG00642.hp2 HG01884.hp1 HG01928.hp2 others(32): Show |
intron_variant | MODIFIER | c.2250-334_2250-331d others(6): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 19/26 | chr5 | 78110684 | ||||||
| chr5:78110684
|
C | CTGTGTG | 12 | a0001c0001t0001g0013a0001c0001t0002g0093a0001c0001t0002g0094others(9): Show | 12 | HG01258.hp1 HG01346.hp1 HG01884.hp2 others(9): Show |
intron_variant | MODIFIER | c.2250-336_2250-331d others(8): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 19/26 | chr5 | 78110684 | ||||||
| chr5:78110684
|
C | CTGTGTGT others(1): Show |
3 | a0001c0002t0002g0158a0001c0002t0002g0169a0003c0008t0002g0038 | 3 | HG02135.hp1 NA19002.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.2250-338_2250-331d others(10): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 19/26 | chr5 | 78110684 | ||||||
| chr5:78110684
|
CTG | C | 4 | a0001c0002t0002g0150a0001c0002t0002g0151a0001c0002t0002g0170others(1): Show | 4 | NA18947.hp1 NA18990.hp2 NA18992.hp1 others(1): Show |
intron_variant | MODIFIER | c.2250-332_2250-331d others(4): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 19/26 | chr5 | 78110684 | ||||||
| chr5:78110716
|
A | G | 1 | a0002c0003t0001g0100 | 1 | NA18987.hp1 | intron_variant | MODIFIER | c.2250-362T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 19/26 | chr5 | 78110716 | ||||||
| chr5:78110761
|
TTCATGTA others(36): Show |
T | 4 | a0001c0001t0001g0095a0001c0001t0001g0098a0001c0001t0001g0101others(1): Show | 4 | HG01496.hp2 HG01943.hp1 HG01993.hp2 others(1): Show |
intron_variant | MODIFIER | c.2250-450_2250-408d others(45): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 19/26 | chr5 | 78110761 | ||||||
| chr5:78110906
|
G | A | 1 | a0001c0004t0002g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.2250-552C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 19/26 | chr5 | 78110906 | ||||||
| chr5:78110916
|
A | G | 1 | a0001c0001t0001g0075 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.2250-562T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 19/26 | chr5 | 78110916 | ||||||
| chr5:78110992
|
G | A | 1 | a0001c0004t0002g0226 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.2250-638C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 19/26 | chr5 | 78110992 | ||||||
| chr5:78111175
|
C | A | 2 | a0003c0009t0002g0074a0003c0009t0002g0078 | 2 | HG01884.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.2250-821G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 19/26 | chr5 | 78111175 | ||||||
| chr5:78111453
|
T | C | 1 | a0001c0001t0001g0126 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.2250-1099A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 19/26 | chr5 | 78111453 | ||||||
| chr5:78111678
|
T | C | 2 | a0001c0001t0001g0204a0001c0001t0001g0214 | 2 | HG01256.hp1 HG01346.hp2 |
intron_variant | MODIFIER | c.2250-1324A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 19/26 | chr5 | 78111678 | ||||||
| chr5:78111724
|
C | G | 1 | a0001c0001t0001g0091 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.2250-1370G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 19/26 | chr5 | 78111724 | ||||||
| chr5:78111966
|
G | A | 1 | a0001c0001t0001g0076 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.2250-1612C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 19/26 | chr5 | 78111966 | ||||||
| chr5:78112038
|
C | T | 2 | a0003c0009t0002g0074a0003c0009t0002g0078 | 2 | HG01884.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.2250-1684G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 19/26 | chr5 | 78112038 | ||||||
| chr5:78112060
|
A | G | 1 | a0001c0001t0001g0225 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.2249+1692T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 19/26 | chr5 | 78112060 | ||||||
| chr5:78112232
|
T | C | 1 | a0001c0006t0001g0040 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.2249+1520A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 19/26 | chr5 | 78112232 | ||||||
| chr5:78112589
|
C | T | 7 | a0001c0012t0001g0142a0003c0007t0002g0072a0003c0007t0002g0079others(4): Show | 7 | HG02723.hp2 HG02818.hp1 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.2249+1163G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 19/26 | chr5 | 78112589 | ||||||
| chr5:78112652
|
A | G | 1 | a0001c0001t0001g0109 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.2249+1100T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 19/26 | chr5 | 78112652 | ||||||
| chr5:78112842
|
T | C | 1 | a0001c0004t0001g0005 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.2249+910A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 19/26 | chr5 | 78112842 | ||||||
| chr5:78113018
|
A | C | 80 | a0001c0001t0002g0011a0001c0002t0001g0138a0001c0002t0001g0139others(77): Show | 80 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(77): Show |
intron_variant | MODIFIER | c.2249+734T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 19/26 | chr5 | 78113018 | ||||||
| chr5:78113058
|
A | C | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.2249+694T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 19/26 | chr5 | 78113058 | ||||||
| chr5:78113068
|
G | A | 1 | a0001c0004t0002g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.2249+684C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 19/26 | chr5 | 78113068 | ||||||
| chr5:78113068
|
G | C | 1 | a0001c0001t0001g0116 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.2249+684C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 19/26 | chr5 | 78113068 | ||||||
| chr5:78113220
|
A | C | 12 | a0001c0001t0002g0011a0001c0012t0001g0142a0003c0007t0002g0072others(9): Show | 12 | HG01496.hp1 HG01884.hp2 HG02723.hp2 others(9): Show |
intron_variant | MODIFIER | c.2249+532T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 19/26 | chr5 | 78113220 | ||||||
| chr5:78113318
|
G | A | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.2249+434C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 19/26 | chr5 | 78113318 | ||||||
| chr5:78113949
|
A | G | 1 | a0001c0001t0002g0050 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.2078-26T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 18/26 | chr5 | 78113949 | ||||||
| chr5:78114026
|
T | C | 12 | a0001c0001t0002g0011a0001c0012t0001g0142a0003c0007t0002g0072others(9): Show | 12 | HG01496.hp1 HG01884.hp2 HG02723.hp2 others(9): Show |
intron_variant | MODIFIER | c.2078-103A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 18/26 | chr5 | 78114026 | ||||||
| chr5:78114210
|
C | A | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.2078-287G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 18/26 | chr5 | 78114210 | ||||||
| chr5:78114340
|
C | T | 31 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(28): Show | 31 | HG01258.hp1 HG01346.hp1 HG01928.hp2 others(28): Show |
intron_variant | MODIFIER | c.2078-417G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 18/26 | chr5 | 78114340 | ||||||
| chr5:78114356
|
G | A | 1 | a0001c0001t0002g0034 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.2078-433C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 18/26 | chr5 | 78114356 | ||||||
| chr5:78114565
|
C | T | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.2078-642G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 18/26 | chr5 | 78114565 | ||||||
| chr5:78114994
|
T | C | 1 | a0001c0001t0002g0017 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.2078-1071A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 18/26 | chr5 | 78114994 | ||||||
| chr5:78115317
|
T | A | 8 | a0001c0001t0002g0011a0001c0012t0001g0142a0003c0007t0002g0072others(5): Show | 8 | HG01496.hp1 HG02723.hp2 HG02818.hp1 others(5): Show |
intron_variant | MODIFIER | c.2077+809A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 18/26 | chr5 | 78115317 | ||||||
| chr5:78115496
|
T | G | 2 | a0002c0003t0001g0063a0002c0003t0001g0071 | 2 | NA18973.hp2 NA19057.hp1 |
intron_variant | MODIFIER | c.2077+630A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 18/26 | chr5 | 78115496 | ||||||
| chr5:78115659
|
A | G | 31 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(28): Show | 31 | HG01258.hp1 HG01346.hp1 HG01928.hp2 others(28): Show |
intron_variant | MODIFIER | c.2077+467T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 18/26 | chr5 | 78115659 | ||||||
| chr5:78116103
|
T | C | 1 | a0002c0003t0001g0052 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.2077+23A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 18/26 | chr5 | 78116103 | ||||||
| chr5:78116244
|
C | T | 7 | a0001c0006t0001g0040a0001c0006t0001g0113a0001c0006t0001g0114others(4): Show | 7 | HG00099.hp1 HG01106.hp2 HG01256.hp2 others(4): Show |
intron_variant | MODIFIER | c.1969-10G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78116244 | ||||||
| chr5:78116543
|
G | A | 1 | a0001c0001t0001g0225 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.1969-309C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78116543 | ||||||
| chr5:78116589
|
T | G | 5 | a0002c0003t0001g0057a0002c0003t0001g0063a0002c0003t0001g0071others(2): Show | 5 | HG00408.hp1 HG00408.hp2 HG02083.hp1 others(2): Show |
intron_variant | MODIFIER | c.1969-355A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78116589 | ||||||
| chr5:78116961
|
T | C | 14 | a0001c0004t0001g0087a0001c0004t0002g0085a0001c0005t0001g0195others(11): Show | 14 | HG01168.hp1 HG01884.hp1 HG02055.hp2 others(11): Show |
intron_variant | MODIFIER | c.1969-727A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78116961 | ||||||
| chr5:78117030
|
T | C | 34 | a0001c0001t0001g0042a0001c0001t0001g0083a0001c0001t0001g0084others(31): Show | 34 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(31): Show |
intron_variant | MODIFIER | c.1969-796A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78117030 | ||||||
| chr5:78117090
|
G | A | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1969-856C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78117090 | ||||||
| chr5:78117172
|
C | CT | 97 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(94): Show | 97 | HG00597.hp2 HG00639.hp1 HG00735.hp1 others(94): Show |
intron_variant | MODIFIER | c.1969-939dupA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78117172 | ||||||
| chr5:78117172
|
CT | C | 8 | a0001c0001t0001g0099a0001c0001t0001g0116a0001c0001t0001g0205others(5): Show | 8 | HG00558.hp2 HG01978.hp1 HG02698.hp2 others(5): Show |
intron_variant | MODIFIER | c.1969-939delA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78117172 | ||||||
| chr5:78117286
|
G | A | 1 | a0002c0003t0001g0047 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.1969-1052C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78117286 | ||||||
| chr5:78117312
|
AT | A | 69 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(66): Show | 69 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(66): Show |
intron_variant | MODIFIER | c.1969-1079delA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78117312 | ||||||
| chr5:78117332
|
C | T | 1 | a0001c0001t0001g0173 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.1969-1098G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78117332 | ||||||
| chr5:78117333
|
G | A | 15 | a0001c0001t0001g0211a0001c0004t0001g0087a0001c0004t0002g0085others(12): Show | 15 | HG01168.hp1 HG01884.hp1 HG02055.hp2 others(12): Show |
intron_variant | MODIFIER | c.1969-1099C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78117333 | ||||||
| chr5:78117349
|
G | C | 3 | a0001c0001t0001g0037a0001c0001t0001g0161a0001c0001t0001g0173 | 3 | HG03139.hp2 HG03516.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.1969-1115C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78117349 | ||||||
| chr5:78117460
|
C | T | 2 | a0001c0001t0001g0076a0001c0001t0001g0091 | 2 | HG02818.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.1969-1226G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78117460 | ||||||
| chr5:78117493
|
A | G | 14 | a0001c0004t0001g0087a0001c0004t0002g0085a0001c0005t0001g0195others(11): Show | 14 | HG01168.hp1 HG01884.hp1 HG02055.hp2 others(11): Show |
intron_variant | MODIFIER | c.1969-1259T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78117493 | ||||||
| chr5:78117507
|
A | G | 14 | a0001c0004t0001g0087a0001c0004t0002g0085a0001c0005t0001g0195others(11): Show | 14 | HG01168.hp1 HG01884.hp1 HG02055.hp2 others(11): Show |
intron_variant | MODIFIER | c.1969-1273T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78117507 | ||||||
| chr5:78117700
|
T | C | 3 | a0001c0004t0002g0006a0001c0004t0002g0007a0001c0004t0002g0185 | 3 | HG00642.hp2 HG02809.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.1969-1466A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78117700 | ||||||
| chr5:78117913
|
A | T | 1 | a0001c0004t0001g0005 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1969-1679T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78117913 | ||||||
| chr5:78118002
|
C | T | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1969-1768G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78118002 | ||||||
| chr5:78118155
|
G | C | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1969-1921C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78118155 | ||||||
| chr5:78118220
|
G | A | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.1969-1986C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78118220 | ||||||
| chr5:78118258
|
C | T | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1969-2024G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78118258 | ||||||
| chr5:78118320
|
G | A | 1 | a0001c0005t0002g0192 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1969-2086C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78118320 | ||||||
| chr5:78118361
|
G | A | 1 | a0001c0004t0002g0006 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.1969-2127C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78118361 | ||||||
| chr5:78118372
|
A | T | 107 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(104): Show | 107 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(104): Show |
intron_variant | MODIFIER | c.1969-2138T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78118372 | ||||||
| chr5:78118479
|
A | T | 1 | a0001c0010t0002g0024 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.1969-2245T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78118479 | ||||||
| chr5:78118494
|
C | T | 1 | a0001c0001t0001g0110 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.1969-2260G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78118494 | ||||||
| chr5:78118542
|
A | G | 2 | a0001c0002t0002g0158a0001c0002t0002g0169 | 2 | HG02135.hp1 NA19002.hp2 |
intron_variant | MODIFIER | c.1969-2308T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78118542 | ||||||
| chr5:78118632
|
G | A | 2 | a0001c0004t0002g0006a0001c0004t0002g0007 | 2 | HG02809.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.1969-2398C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78118632 | ||||||
| chr5:78118645
|
C | T | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1969-2411G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78118645 | ||||||
| chr5:78118895
|
C | T | 1 | a0001c0004t0002g0186 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1969-2661G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78118895 | ||||||
| chr5:78118961
|
T | G | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1969-2727A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78118961 | ||||||
| chr5:78118989
|
G | C | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.1969-2755C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78118989 | ||||||
| chr5:78119004
|
T | C | 14 | a0001c0004t0001g0087a0001c0004t0002g0085a0001c0005t0001g0195others(11): Show | 14 | HG01168.hp1 HG01884.hp1 HG02055.hp2 others(11): Show |
intron_variant | MODIFIER | c.1969-2770A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78119004 | ||||||
| chr5:78119053
|
C | A | 1 | a0001c0001t0002g0011 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.1969-2819G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78119053 | ||||||
| chr5:78119100
|
C | T | 1 | a0001c0005t0002g0192 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1969-2866G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78119100 | ||||||
| chr5:78119254
|
G | A | 80 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(77): Show | 80 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(77): Show |
intron_variant | MODIFIER | c.1969-3020C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78119254 | ||||||
| chr5:78119352
|
C | T | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1969-3118G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78119352 | ||||||
| chr5:78119356
|
C | T | 111 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(108): Show | 111 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(108): Show |
intron_variant | MODIFIER | c.1969-3122G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78119356 | ||||||
| chr5:78119479
|
G | A | 1 | a0001c0004t0002g0186 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1969-3245C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78119479 | ||||||
| chr5:78119480
|
C | A | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1969-3246G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78119480 | ||||||
| chr5:78119708
|
G | A | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1969-3474C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78119708 | ||||||
| chr5:78119733
|
C | T | 110 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(107): Show | 110 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(107): Show |
intron_variant | MODIFIER | c.1969-3499G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78119733 | ||||||
| chr5:78119734
|
G | A | 1 | a0001c0001t0001g0211 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.1969-3500C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78119734 | ||||||
| chr5:78119737
|
T | G | 1 | a0001c0001t0001g0211 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.1969-3503A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78119737 | ||||||
| chr5:78119902
|
C | G | 1 | a0001c0004t0001g0005 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1969-3668G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78119902 | ||||||
| chr5:78119921
|
C | T | 111 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(108): Show | 111 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(108): Show |
intron_variant | MODIFIER | c.1969-3687G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78119921 | ||||||
| chr5:78119985
|
T | G | 1 | a0001c0004t0002g0226 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.1969-3751A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78119985 | ||||||
| chr5:78120042
|
G | T | 111 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(108): Show | 111 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(108): Show |
intron_variant | MODIFIER | c.1969-3808C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78120042 | ||||||
| chr5:78120064
|
C | T | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1969-3830G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78120064 | ||||||
| chr5:78120097
|
C | A | 111 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(108): Show | 111 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(108): Show |
intron_variant | MODIFIER | c.1969-3863G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78120097 | ||||||
| chr5:78120119
|
A | C | 1 | a0001c0001t0002g0123 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.1969-3885T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78120119 | ||||||
| chr5:78120184
|
A | C | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1969-3950T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78120184 | ||||||
| chr5:78120276
|
T | A | 42 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(39): Show | 42 | HG01258.hp1 HG01346.hp1 HG01884.hp2 others(39): Show |
intron_variant | MODIFIER | c.1969-4042A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78120276 | ||||||
| chr5:78120288
|
C | T | 1 | a0001c0004t0001g0005 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1969-4054G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78120288 | ||||||
| chr5:78120309
|
A | C | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1969-4075T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78120309 | ||||||
| chr5:78120315
|
A | G | 8 | a0001c0002t0002g0158a0001c0002t0002g0169a0001c0004t0001g0005others(5): Show | 8 | HG02135.hp1 HG02258.hp2 HG02615.hp2 others(5): Show |
intron_variant | MODIFIER | c.1969-4081T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78120315 | ||||||
| chr5:78120324
|
C | T | 110 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(107): Show | 110 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(107): Show |
intron_variant | MODIFIER | c.1969-4090G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78120324 | ||||||
| chr5:78120401
|
T | C | 2 | a0001c0004t0002g0006a0001c0004t0002g0007 | 2 | HG02809.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.1969-4167A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78120401 | ||||||
| chr5:78120431
|
T | C | 2 | a0001c0002t0002g0158a0001c0002t0002g0169 | 2 | HG02135.hp1 NA19002.hp2 |
intron_variant | MODIFIER | c.1969-4197A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78120431 | ||||||
| chr5:78120466
|
C | T | 42 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(39): Show | 42 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(39): Show |
intron_variant | MODIFIER | c.1969-4232G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78120466 | ||||||
| chr5:78120546
|
G | C | 1 | a0001c0001t0001g0082 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.1969-4312C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78120546 | ||||||
| chr5:78120551
|
A | T | 3 | a0001c0001t0001g0082a0001c0004t0002g0006a0001c0004t0002g0007 | 3 | HG02647.hp1 HG02809.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.1969-4317T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78120551 | ||||||
| chr5:78120580
|
T | C | 56 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(53): Show | 56 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(53): Show |
intron_variant | MODIFIER | c.1969-4346A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78120580 | ||||||
| chr5:78120580
|
T | G | 2 | a0001c0002t0002g0158a0001c0002t0002g0169 | 2 | HG02135.hp1 NA19002.hp2 |
intron_variant | MODIFIER | c.1969-4346A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78120580 | ||||||
| chr5:78120599
|
C | T | 107 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(104): Show | 107 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(104): Show |
intron_variant | MODIFIER | c.1969-4365G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78120599 | ||||||
| chr5:78120721
|
T | G | 111 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(108): Show | 111 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(108): Show |
intron_variant | MODIFIER | c.1969-4487A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78120721 | ||||||
| chr5:78120722
|
A | G | 111 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(108): Show | 111 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(108): Show |
intron_variant | MODIFIER | c.1969-4488T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78120722 | ||||||
| chr5:78120813
|
T | G | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1969-4579A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78120813 | ||||||
| chr5:78120934
|
T | C | 14 | a0001c0004t0001g0087a0001c0004t0002g0085a0001c0005t0001g0195others(11): Show | 14 | HG01168.hp1 HG01884.hp1 HG02055.hp2 others(11): Show |
intron_variant | MODIFIER | c.1969-4700A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78120934 | ||||||
| chr5:78120936
|
G | C | 1 | a0002c0003t0001g0065 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.1969-4702C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78120936 | ||||||
| chr5:78121079
|
G | A | 1 | a0001c0002t0002g0064 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.1969-4845C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78121079 | ||||||
| chr5:78121160
|
C | A | 111 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(108): Show | 111 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(108): Show |
intron_variant | MODIFIER | c.1969-4926G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78121160 | ||||||
| chr5:78121442
|
T | C | 111 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(108): Show | 111 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(108): Show |
intron_variant | MODIFIER | c.1969-5208A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78121442 | ||||||
| chr5:78121443
|
G | A | 107 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(104): Show | 107 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(104): Show |
intron_variant | MODIFIER | c.1969-5209C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78121443 | ||||||
| chr5:78121488
|
T | G | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1969-5254A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78121488 | ||||||
| chr5:78121572
|
C | T | 1 | a0002c0003t0001g0065 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.1969-5338G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78121572 | ||||||
| chr5:78121680
|
C | A | 1 | a0001c0005t0002g0192 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1969-5446G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78121680 | ||||||
| chr5:78121733
|
C | T | 2 | a0001c0004t0002g0006a0001c0004t0002g0007 | 2 | HG02809.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.1969-5499G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78121733 | ||||||
| chr5:78121750
|
G | A | 14 | a0001c0004t0001g0087a0001c0004t0002g0085a0001c0005t0001g0195others(11): Show | 14 | HG01168.hp1 HG01884.hp1 HG02055.hp2 others(11): Show |
intron_variant | MODIFIER | c.1969-5516C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78121750 | ||||||
| chr5:78121776
|
G | A | 3 | a0001c0002t0002g0150a0001c0002t0002g0170a0001c0002t0002g0172 | 3 | NA18947.hp1 NA18990.hp2 NA19070.hp1 |
intron_variant | MODIFIER | c.1969-5542C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78121776 | ||||||
| chr5:78121931
|
G | A | 1 | a0001c0012t0001g0142 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1969-5697C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78121931 | ||||||
| chr5:78122007
|
T | C | 1 | a0001c0001t0001g0106 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.1969-5773A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78122007 | ||||||
| chr5:78122124
|
C | A | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1969-5890G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78122124 | ||||||
| chr5:78122125
|
G | A | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1969-5891C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78122125 | ||||||
| chr5:78122148
|
C | A | 1 | a0002c0003t0002g0058 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.1968+5882G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78122148 | ||||||
| chr5:78122219
|
G | A | 11 | a0001c0004t0001g0087a0001c0004t0002g0085a0001c0005t0001g0195others(8): Show | 11 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(8): Show |
intron_variant | MODIFIER | c.1968+5811C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78122219 | ||||||
| chr5:78122228
|
A | C | 1 | a0001c0005t0002g0192 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1968+5802T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78122228 | ||||||
| chr5:78122380
|
T | C | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1968+5650A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78122380 | ||||||
| chr5:78122413
|
G | C | 14 | a0001c0004t0001g0087a0001c0004t0002g0085a0001c0005t0001g0195others(11): Show | 14 | HG01168.hp1 HG01884.hp1 HG02055.hp2 others(11): Show |
intron_variant | MODIFIER | c.1968+5617C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78122413 | ||||||
| chr5:78122430
|
T | C | 42 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(39): Show | 42 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(39): Show |
intron_variant | MODIFIER | c.1968+5600A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78122430 | ||||||
| chr5:78122452
|
G | A | 1 | a0001c0001t0002g0159 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.1968+5578C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78122452 | ||||||
| chr5:78122508
|
C | T | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1968+5522G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78122508 | ||||||
| chr5:78122637
|
A | G | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.1968+5393T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78122637 | ||||||
| chr5:78122752
|
G | A | 1 | a0001c0004t0001g0005 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1968+5278C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78122752 | ||||||
| chr5:78122784
|
T | C | 42 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(39): Show | 42 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(39): Show |
intron_variant | MODIFIER | c.1968+5246A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78122784 | ||||||
| chr5:78122849
|
T | G | 1 | a0001c0002t0002g0064 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.1968+5181A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78122849 | ||||||
| chr5:78122895
|
C | T | 105 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(102): Show | 105 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(102): Show |
intron_variant | MODIFIER | c.1968+5135G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78122895 | ||||||
| chr5:78122942
|
A | T | 1 | a0001c0004t0002g0006 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.1968+5088T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78122942 | ||||||
| chr5:78123042
|
G | A | 2 | a0001c0004t0002g0185a0007c0014t0002g0196 | 2 | HG00642.hp2 HG02723.hp1 |
intron_variant | MODIFIER | c.1968+4988C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78123042 | ||||||
| chr5:78123091
|
C | T | 3 | a0001c0001t0001g0075a0001c0001t0001g0082a0001c0001t0001g0126 | 3 | HG00735.hp2 HG02647.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.1968+4939G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78123091 | ||||||
| chr5:78123143
|
G | T | 5 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(2): Show | 5 | HG02258.hp2 HG02615.hp2 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.1968+4887C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78123143 | ||||||
| chr5:78123179
|
C | T | 1 | a0002c0003t0001g0062 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.1968+4851G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78123179 | ||||||
| chr5:78123244
|
C | G | 42 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(39): Show | 42 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(39): Show |
intron_variant | MODIFIER | c.1968+4786G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78123244 | ||||||
| chr5:78123273
|
G | A | 54 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(51): Show | 54 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(51): Show |
intron_variant | MODIFIER | c.1968+4757C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78123273 | ||||||
| chr5:78123304
|
A | G | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.1968+4726T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78123304 | ||||||
| chr5:78123323
|
T | C | 1 | a0001c0004t0002g0186 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1968+4707A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78123323 | ||||||
| chr5:78123332
|
C | A | 1 | a0001c0004t0002g0186 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1968+4698G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78123332 | ||||||
| chr5:78123351
|
C | T | 6 | a0001c0004t0001g0005a0001c0004t0001g0077a0001c0004t0002g0001others(3): Show | 6 | HG02258.hp2 HG02615.hp2 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.1968+4679G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78123351 | ||||||
| chr5:78123352
|
G | C | 6 | a0001c0004t0001g0005a0001c0004t0001g0077a0001c0004t0002g0001others(3): Show | 6 | HG02258.hp2 HG02615.hp2 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.1968+4678C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78123352 | ||||||
| chr5:78123412
|
T | C | 1 | a0001c0001t0002g0118 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.1968+4618A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78123412 | ||||||
| chr5:78123418
|
G | A | 1 | a0001c0001t0002g0118 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.1968+4612C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78123418 | ||||||
| chr5:78123435
|
T | C | 1 | a0001c0001t0002g0118 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.1968+4595A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78123435 | ||||||
| chr5:78123533
|
C | T | 28 | a0001c0001t0001g0095a0001c0001t0001g0096a0001c0001t0001g0098others(25): Show | 28 | HG00099.hp1 HG00558.hp2 HG01106.hp2 others(25): Show |
intron_variant | MODIFIER | c.1968+4497G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78123533 | ||||||
| chr5:78123534
|
G | A | 12 | a0001c0004t0001g0087a0001c0004t0002g0085a0001c0005t0001g0195others(9): Show | 12 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.1968+4496C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78123534 | ||||||
| chr5:78123603
|
G | A | 1 | a0002c0003t0001g0010 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.1968+4427C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78123603 | ||||||
| chr5:78123610
|
C | A | 44 | a0001c0001t0001g0208a0001c0001t0001g0222a0001c0002t0001g0138others(41): Show | 44 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(41): Show |
intron_variant | MODIFIER | c.1968+4420G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78123610 | ||||||
| chr5:78123622
|
G | T | 1 | a0001c0001t0001g0084 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.1968+4408C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78123622 | ||||||
| chr5:78123675
|
A | G | 2 | a0001c0001t0001g0208a0001c0001t0001g0222 | 2 | NA18950.hp2 NA18952.hp2 |
intron_variant | MODIFIER | c.1968+4355T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78123675 | ||||||
| chr5:78123738
|
A | G | 12 | a0001c0004t0001g0087a0001c0004t0002g0085a0001c0005t0001g0195others(9): Show | 12 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.1968+4292T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78123738 | ||||||
| chr5:78123753
|
C | G | 1 | a0001c0004t0002g0186 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1968+4277G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78123753 | ||||||
| chr5:78123839
|
C | G | 42 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(39): Show | 42 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(39): Show |
intron_variant | MODIFIER | c.1968+4191G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78123839 | ||||||
| chr5:78123919
|
T | C | 2 | a0001c0002t0002g0158a0001c0002t0002g0169 | 2 | HG02135.hp1 NA19002.hp2 |
intron_variant | MODIFIER | c.1968+4111A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78123919 | ||||||
| chr5:78123988
|
T | C | 1 | a0001c0001t0001g0207 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.1968+4042A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78123988 | ||||||
| chr5:78124151
|
G | C | 44 | a0001c0001t0001g0208a0001c0001t0001g0222a0001c0002t0001g0138others(41): Show | 44 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(41): Show |
intron_variant | MODIFIER | c.1968+3879C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78124151 | ||||||
| chr5:78124185
|
C | A | 12 | a0001c0004t0001g0087a0001c0004t0002g0085a0001c0005t0001g0195others(9): Show | 12 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.1968+3845G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78124185 | ||||||
| chr5:78124199
|
G | T | 1 | a0001c0001t0002g0097 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.1968+3831C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78124199 | ||||||
| chr5:78124306
|
AC | A | 42 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(39): Show | 42 | HG01258.hp1 HG01346.hp1 HG01884.hp2 others(39): Show |
intron_variant | MODIFIER | c.1968+3723delG | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78124306 | ||||||
| chr5:78124337
|
T | C | 1 | a0001c0001t0001g0110 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.1968+3693A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78124337 | ||||||
| chr5:78124498
|
C | A | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1968+3532G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78124498 | ||||||
| chr5:78124646
|
A | G | 8 | a0001c0002t0002g0158a0001c0002t0002g0169a0001c0004t0001g0005others(5): Show | 8 | HG02135.hp1 HG02258.hp2 HG02615.hp2 others(5): Show |
intron_variant | MODIFIER | c.1968+3384T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78124646 | ||||||
| chr5:78124682
|
A | C | 107 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(104): Show | 107 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(104): Show |
intron_variant | MODIFIER | c.1968+3348T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78124682 | ||||||
| chr5:78124788
|
T | C | 107 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(104): Show | 107 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(104): Show |
intron_variant | MODIFIER | c.1968+3242A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78124788 | ||||||
| chr5:78124832
|
C | A | 109 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(106): Show | 109 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(106): Show |
intron_variant | MODIFIER | c.1968+3198G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78124832 | ||||||
| chr5:78125102
|
A | G | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.1968+2928T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78125102 | ||||||
| chr5:78125291
|
G | C | 1 | a0001c0001t0001g0029 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.1968+2739C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78125291 | ||||||
| chr5:78125307
|
C | G | 8 | a0001c0002t0002g0158a0001c0002t0002g0169a0001c0004t0001g0005others(5): Show | 8 | HG02135.hp1 HG02258.hp2 HG02615.hp2 others(5): Show |
intron_variant | MODIFIER | c.1968+2723G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78125307 | ||||||
| chr5:78125351
|
A | G | 1 | a0002c0003t0001g0100 | 1 | NA18987.hp1 | intron_variant | MODIFIER | c.1968+2679T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78125351 | ||||||
| chr5:78125585
|
A | G | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1968+2445T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78125585 | ||||||
| chr5:78125729
|
C | G | 109 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(106): Show | 109 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(106): Show |
intron_variant | MODIFIER | c.1968+2301G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78125729 | ||||||
| chr5:78125792
|
T | C | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1968+2238A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78125792 | ||||||
| chr5:78125815
|
C | T | 1 | a0001c0002t0002g0154 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1968+2215G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78125815 | ||||||
| chr5:78126023
|
G | A | 6 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(3): Show | 6 | HG02258.hp2 HG02615.hp2 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.1968+2007C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78126023 | ||||||
| chr5:78126026
|
G | A | 1 | a0001c0001t0002g0011 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.1968+2004C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78126026 | ||||||
| chr5:78126088
|
GA | G | 52 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(49): Show | 52 | HG01258.hp1 HG01346.hp1 HG01884.hp2 others(49): Show |
intron_variant | MODIFIER | c.1968+1941delT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78126088 | ||||||
| chr5:78126170
|
A | G | 2 | a0001c0004t0002g0006a0001c0004t0002g0007 | 2 | HG02809.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.1968+1860T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78126170 | ||||||
| chr5:78126498
|
C | CT | 54 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(51): Show | 54 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(51): Show |
intron_variant | MODIFIER | c.1968+1531dupA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78126498 | ||||||
| chr5:78126504
|
C | CA | 43 | a0001c0001t0001g0076a0001c0001t0001g0082a0001c0001t0001g0083others(40): Show | 43 | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(40): Show |
intron_variant | MODIFIER | c.1968+1525dupT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78126504 | ||||||
| chr5:78126504
|
C | CAA | 16 | a0001c0001t0001g0095a0001c0001t0001g0096a0001c0001t0001g0099others(13): Show | 16 | HG01175.hp2 HG01258.hp2 HG01361.hp1 others(13): Show |
intron_variant | MODIFIER | c.1968+1524_1968+152 others(6): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78126504 | ||||||
| chr5:78126504
|
C | CAAAAAAA others(3): Show |
7 | a0001c0004t0002g0185a0003c0007t0002g0072a0003c0007t0002g0079others(4): Show | 7 | HG00642.hp2 HG01884.hp2 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.1968+1516_1968+152 others(14): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78126504 | ||||||
| chr5:78126504
|
C | CAAAAAAA others(4): Show |
2 | a0001c0004t0002g0226a0003c0007t0002g0081 | 2 | HG03130.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.1968+1515_1968+152 others(15): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78126504 | ||||||
| chr5:78126504
|
C | CAAAAAAA others(5): Show |
1 | a0003c0007t0002g0140 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1968+1514_1968+152 others(16): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78126504 | ||||||
| chr5:78126504
|
C | CAAAAAAA others(12): Show |
1 | a0001c0002t0002g0158 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.1968+1507_1968+152 others(23): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78126504 | ||||||
| chr5:78126504
|
C | CAAAAAAA others(14): Show |
1 | a0001c0012t0001g0142 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1968+1505_1968+152 others(25): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78126504 | ||||||
| chr5:78126504
|
CAAA | C | 5 | a0001c0001t0001g0013a0001c0001t0001g0032a0001c0001t0002g0018others(2): Show | 5 | HG01346.hp1 HG01952.hp2 HG04228.hp1 others(2): Show |
intron_variant | MODIFIER | c.1968+1523_1968+152 others(7): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78126504 | ||||||
| chr5:78126504
|
CAAAA | C | 27 | a0001c0001t0001g0029a0001c0001t0002g0012a0001c0001t0002g0014others(24): Show | 27 | HG01258.hp1 HG01928.hp2 HG01934.hp1 others(24): Show |
intron_variant | MODIFIER | c.1968+1522_1968+152 others(8): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78126504 | ||||||
| chr5:78126504
|
CAAAAAAA others(1): Show |
C | 50 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(47): Show | 50 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(47): Show |
intron_variant | MODIFIER | c.1968+1518_1968+152 others(12): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78126504 | ||||||
| chr5:78126559
|
A | G | 107 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(104): Show | 107 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(104): Show |
intron_variant | MODIFIER | c.1968+1471T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78126559 | ||||||
| chr5:78127002
|
G | A | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1968+1028C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78127002 | ||||||
| chr5:78127109
|
G | A | 1 | a0001c0005t0001g0195 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.1968+921C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78127109 | ||||||
| chr5:78127175
|
A | G | 8 | a0001c0002t0002g0158a0001c0002t0002g0169a0001c0004t0001g0005others(5): Show | 8 | HG00642.hp2 HG02135.hp1 HG02258.hp2 others(5): Show |
intron_variant | MODIFIER | c.1968+855T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78127175 | ||||||
| chr5:78127367
|
G | T | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1968+663C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78127367 | ||||||
| chr5:78127451
|
C | G | 1 | a0001c0005t0002g0192 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1968+579G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78127451 | ||||||
| chr5:78127503
|
G | T | 1 | a0001c0001t0001g0199 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.1968+527C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78127503 | ||||||
| chr5:78127538
|
T | C | 2 | a0001c0004t0002g0006a0001c0004t0002g0007 | 2 | HG02809.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.1968+492A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | 78127538 | ||||||
| chr5:78128188
|
T | C | 1 | a0001c0004t0002g0226 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.1838-28A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 16/26 | chr5 | 78128188 | ||||||
| chr5:78128237
|
A | G | 3 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0039 | 3 | HG01884.hp2 NA18522.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.1838-77T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 16/26 | chr5 | 78128237 | ||||||
| chr5:78128238
|
G | C | 51 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(48): Show | 51 | HG00642.hp2 HG01258.hp1 HG01346.hp1 others(48): Show |
intron_variant | MODIFIER | c.1838-78C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 16/26 | chr5 | 78128238 | ||||||
| chr5:78128361
|
G | T | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1838-201C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 16/26 | chr5 | 78128361 | ||||||
| chr5:78128687
|
A | G | 1 | a0001c0004t0002g0226 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.1837+434T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 16/26 | chr5 | 78128687 | ||||||
| chr5:78129006
|
T | C | 1 | a0001c0004t0002g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1837+115A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 16/26 | chr5 | 78129006 | ||||||
| chr5:78129012
|
C | T | 55 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(52): Show | 55 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(52): Show |
intron_variant | MODIFIER | c.1837+109G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 16/26 | chr5 | 78129012 | ||||||
| chr5:78129077
|
A | G | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.1837+44T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 16/26 | chr5 | 78129077 | ||||||
| chr5:78129507
|
T | TGC | 2 | a0002c0003t0001g0041a0002c0003t0001g0219 | 2 | HG01358.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.1651-202_1651-201d others(4): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78129507 | ||||||
| chr5:78129522
|
AGCAGCCA others(3): Show |
A | 1 | a0001c0001t0002g0015 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.1651-225_1651-216d others(12): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78129522 | ||||||
| chr5:78129651
|
C | T | 31 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(28): Show | 31 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(28): Show |
intron_variant | MODIFIER | c.1651-344G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78129651 | ||||||
| chr5:78129769
|
A | G | 1 | a0001c0004t0002g0006 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.1651-462T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78129769 | ||||||
| chr5:78129906
|
C | G | 1 | a0001c0004t0002g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1651-599G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78129906 | ||||||
| chr5:78129963
|
A | T | 109 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(106): Show | 109 | HG00280.hp2 HG00408.hp1 HG00597.hp2 others(106): Show |
intron_variant | MODIFIER | c.1651-656T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78129963 | ||||||
| chr5:78130259
|
G | A | 108 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(105): Show | 108 | HG00280.hp2 HG00408.hp1 HG00597.hp2 others(105): Show |
intron_variant | MODIFIER | c.1651-952C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78130259 | ||||||
| chr5:78130388
|
G | C | 1 | a0001c0001t0001g0128 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.1651-1081C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78130388 | ||||||
| chr5:78130881
|
G | C | 11 | a0001c0004t0001g0087a0001c0004t0002g0085a0001c0005t0001g0195others(8): Show | 11 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(8): Show |
intron_variant | MODIFIER | c.1651-1574C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78130881 | ||||||
| chr5:78131051
|
T | C | 7 | a0001c0012t0001g0142a0003c0007t0002g0072a0003c0007t0002g0079others(4): Show | 7 | HG02723.hp2 HG02818.hp1 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.1651-1744A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78131051 | ||||||
| chr5:78131070
|
T | C | 5 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(2): Show | 5 | HG02258.hp2 HG02615.hp2 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.1651-1763A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78131070 | ||||||
| chr5:78131205
|
G | T | 1 | a0003c0007t0002g0081 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1651-1898C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78131205 | ||||||
| chr5:78131373
|
G | A | 7 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0144others(4): Show | 7 | HG00741.hp1 HG02109.hp2 HG02615.hp1 others(4): Show |
intron_variant | MODIFIER | c.1651-2066C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78131373 | ||||||
| chr5:78131432
|
G | A | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.1651-2125C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78131432 | ||||||
| chr5:78131508
|
C | T | 14 | a0001c0004t0001g0087a0001c0004t0002g0085a0001c0005t0001g0195others(11): Show | 14 | HG01168.hp1 HG01884.hp1 HG02055.hp2 others(11): Show |
intron_variant | MODIFIER | c.1651-2201G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78131508 | ||||||
| chr5:78131635
|
AT | A | 31 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(28): Show | 31 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(28): Show |
intron_variant | MODIFIER | c.1651-2329delA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78131635 | ||||||
| chr5:78131736
|
T | C | 1 | a0001c0005t0001g0195 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.1651-2429A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78131736 | ||||||
| chr5:78131752
|
T | C | 2 | a0001c0004t0002g0007a0001c0004t0002g0185 | 2 | HG00642.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.1651-2445A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78131752 | ||||||
| chr5:78131846
|
T | C | 1 | a0001c0001t0001g0110 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.1651-2539A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78131846 | ||||||
| chr5:78131900
|
A | G | 8 | a0001c0002t0002g0158a0001c0002t0002g0169a0001c0004t0001g0005others(5): Show | 8 | HG02135.hp1 HG02258.hp2 HG02615.hp2 others(5): Show |
intron_variant | MODIFIER | c.1651-2593T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78131900 | ||||||
| chr5:78132247
|
A | G | 8 | a0001c0002t0002g0158a0001c0002t0002g0169a0001c0004t0001g0005others(5): Show | 8 | HG02135.hp1 HG02258.hp2 HG02615.hp2 others(5): Show |
intron_variant | MODIFIER | c.1651-2940T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78132247 | ||||||
| chr5:78132429
|
A | G | 42 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(39): Show | 42 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(39): Show |
intron_variant | MODIFIER | c.1651-3122T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78132429 | ||||||
| chr5:78132521
|
T | C | 1 | a0002c0003t0001g0066 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.1651-3214A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78132521 | ||||||
| chr5:78133017
|
G | A | 2 | a0001c0002t0001g0180a0001c0002t0001g0183 | 2 | NA18949.hp2 NA18982.hp1 |
intron_variant | MODIFIER | c.1651-3710C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78133017 | ||||||
| chr5:78133033
|
A | G | 1 | a0001c0001t0001g0211 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.1651-3726T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78133033 | ||||||
| chr5:78133266
|
A | G | 1 | a0002c0003t0001g0045 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.1651-3959T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78133266 | ||||||
| chr5:78133661
|
TAATTA | T | 2 | a0003c0009t0002g0074a0003c0009t0002g0078 | 2 | HG01884.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.1651-4359_1651-435 others(9): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78133661 | ||||||
| chr5:78133765
|
C | T | 1 | a0002c0003t0001g0071 | 1 | NA18973.hp2 | intron_variant | MODIFIER | c.1651-4458G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78133765 | ||||||
| chr5:78133974
|
A | G | 2 | a0003c0009t0002g0074a0003c0009t0002g0078 | 2 | HG01884.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.1651-4667T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78133974 | ||||||
| chr5:78134007
|
C | T | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.1651-4700G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78134007 | ||||||
| chr5:78134028
|
G | A | 1 | a0001c0004t0002g0186 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1651-4721C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78134028 | ||||||
| chr5:78134107
|
C | T | 1 | a0002c0003t0001g0046 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.1651-4800G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78134107 | ||||||
| chr5:78134111
|
A | T | 2 | a0002c0003t0001g0044a0002c0003t0001g0056 | 2 | NA18969.hp2 NA18995.hp2 |
intron_variant | MODIFIER | c.1651-4804T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78134111 | ||||||
| chr5:78134125
|
C | T | 107 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(104): Show | 107 | HG00280.hp2 HG00408.hp1 HG00597.hp2 others(104): Show |
intron_variant | MODIFIER | c.1651-4818G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78134125 | ||||||
| chr5:78134149
|
C | CAA | 29 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0002g0012others(26): Show | 29 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(26): Show |
intron_variant | MODIFIER | c.1651-4844_1651-484 others(6): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78134149 | ||||||
| chr5:78134149
|
C | CAAAAA | 11 | a0001c0004t0001g0087a0001c0004t0002g0085a0001c0005t0001g0195others(8): Show | 11 | HG01168.hp1 HG02280.hp1 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.1651-4847_1651-484 others(9): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78134149 | ||||||
| chr5:78134149
|
C | CAAAAAAA | 37 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(34): Show | 37 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(34): Show |
intron_variant | MODIFIER | c.1651-4849_1651-484 others(11): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78134149 | ||||||
| chr5:78134149
|
C | CAAAAAAA others(1): Show |
16 | a0001c0002t0001g0184a0001c0002t0002g0064a0001c0002t0002g0137others(13): Show | 16 | HG00741.hp2 HG01928.hp1 HG02083.hp2 others(13): Show |
intron_variant | MODIFIER | c.1651-4850_1651-484 others(12): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78134149 | ||||||
| chr5:78134149
|
C | CAAAAAAA others(5): Show |
1 | a0001c0004t0002g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1651-4854_1651-484 others(16): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78134149 | ||||||
| chr5:78134149
|
C | CAAAAAAA others(12): Show |
1 | a0001c0001t0002g0011 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.1651-4843_1651-484 others(23): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78134149 | ||||||
| chr5:78134149
|
C | CAAAAAAA others(16): Show |
2 | a0001c0004t0001g0005a0001c0004t0002g0003 | 2 | HG02258.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.1651-4843_1651-484 others(27): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78134149 | ||||||
| chr5:78134149
|
C | CAAAAAAA others(17): Show |
1 | a0001c0004t0002g0002 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1651-4843_1651-484 others(28): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78134149 | ||||||
| chr5:78134149
|
C | CAAAAAAA others(22): Show |
1 | a0001c0004t0002g0226 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.1651-4843_1651-484 others(33): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78134149 | ||||||
| chr5:78134149
|
C | CAAAAAAA others(55): Show |
1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1651-4843_1651-484 others(66): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78134149 | ||||||
| chr5:78134447
|
T | C | 1 | a0001c0005t0002g0192 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1651-5140A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78134447 | ||||||
| chr5:78134602
|
G | A | 73 | a0001c0001t0001g0076a0001c0002t0001g0138a0001c0002t0001g0139others(70): Show | 73 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(70): Show |
intron_variant | MODIFIER | c.1651-5295C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78134602 | ||||||
| chr5:78134749
|
G | T | 1 | a0001c0001t0001g0084 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.1651-5442C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78134749 | ||||||
| chr5:78134824
|
T | C | 2 | a0001c0001t0001g0042a0001c0001t0001g0198 | 2 | HG01168.hp2 HG01358.hp1 |
intron_variant | MODIFIER | c.1651-5517A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78134824 | ||||||
| chr5:78135354
|
T | C | 31 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(28): Show | 31 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(28): Show |
intron_variant | MODIFIER | c.1650+5789A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78135354 | ||||||
| chr5:78135389
|
C | T | 1 | a0001c0004t0002g0226 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.1650+5754G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78135389 | ||||||
| chr5:78135443
|
T | C | 1 | a0001c0004t0002g0186 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1650+5700A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78135443 | ||||||
| chr5:78135497
|
C | T | 2 | a0001c0004t0002g0007a0001c0004t0002g0185 | 2 | HG00642.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.1650+5646G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78135497 | ||||||
| chr5:78135540
|
T | TTAAA | 2 | a0001c0002t0002g0158a0001c0002t0002g0169 | 2 | HG02135.hp1 NA19002.hp2 |
intron_variant | MODIFIER | c.1650+5599_1650+560 others(8): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78135540 | ||||||
| chr5:78135540
|
TTAAATAA others(1): Show |
T | 105 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(102): Show | 105 | HG00280.hp2 HG00408.hp1 HG00597.hp2 others(102): Show |
intron_variant | MODIFIER | c.1650+5595_1650+560 others(12): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78135540 | ||||||
| chr5:78135605
|
T | C | 2 | a0001c0004t0002g0007a0001c0004t0002g0185 | 2 | HG00642.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.1650+5538A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78135605 | ||||||
| chr5:78135701
|
T | C | 1 | a0001c0001t0001g0111 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.1650+5442A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78135701 | ||||||
| chr5:78135710
|
T | C | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.1650+5433A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78135710 | ||||||
| chr5:78135781
|
ATTG | A | 12 | a0001c0004t0001g0087a0001c0004t0002g0085a0001c0005t0001g0195others(9): Show | 12 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.1650+5359_1650+536 others(7): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78135781 | ||||||
| chr5:78135948
|
G | C | 109 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(106): Show | 109 | HG00280.hp2 HG00408.hp1 HG00597.hp2 others(106): Show |
intron_variant | MODIFIER | c.1650+5195C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78135948 | ||||||
| chr5:78135999
|
A | AT | 53 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(50): Show | 53 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(50): Show |
intron_variant | MODIFIER | c.1650+5143dupA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78135999 | ||||||
| chr5:78136062
|
A | G | 73 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(70): Show | 73 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(70): Show |
intron_variant | MODIFIER | c.1650+5081T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78136062 | ||||||
| chr5:78136068
|
G | A | 1 | a0001c0001t0001g0106 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.1650+5075C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78136068 | ||||||
| chr5:78136077
|
A | G | 1 | a0002c0003t0001g0052 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.1650+5066T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78136077 | ||||||
| chr5:78136090
|
G | GT | 6 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(3): Show | 6 | HG02258.hp2 HG02615.hp2 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.1650+5052dupA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78136090 | ||||||
| chr5:78136115
|
T | C | 5 | a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0002g0048others(2): Show | 5 | HG02055.hp1 HG02258.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1650+5028A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78136115 | ||||||
| chr5:78136187
|
C | T | 2 | a0001c0004t0002g0007a0001c0004t0002g0185 | 2 | HG00642.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.1650+4956G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78136187 | ||||||
| chr5:78136518
|
C | T | 12 | a0001c0004t0001g0087a0001c0004t0002g0085a0001c0005t0001g0195others(9): Show | 12 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.1650+4625G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78136518 | ||||||
| chr5:78136700
|
G | A | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.1650+4443C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78136700 | ||||||
| chr5:78136717
|
TG | T | 46 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(43): Show | 46 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(43): Show |
intron_variant | MODIFIER | c.1650+4425delC | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78136717 | ||||||
| chr5:78136718
|
G | GTT | 12 | a0001c0004t0001g0087a0001c0004t0002g0085a0001c0005t0001g0195others(9): Show | 12 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.1650+4424_1650+442 others(6): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78136718 | ||||||
| chr5:78136719
|
G | T | 58 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(55): Show | 58 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(55): Show |
intron_variant | MODIFIER | c.1650+4424C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78136719 | ||||||
| chr5:78136856
|
T | C | 9 | a0001c0002t0002g0130a0001c0002t0002g0131a0001c0002t0002g0156others(6): Show | 9 | HG00735.hp1 HG01175.hp1 HG01361.hp2 others(6): Show |
intron_variant | MODIFIER | c.1650+4287A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78136856 | ||||||
| chr5:78136862
|
T | C | 1 | a0002c0003t0001g0069 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.1650+4281A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78136862 | ||||||
| chr5:78136881
|
A | G | 1 | a0001c0002t0002g0154 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1650+4262T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78136881 | ||||||
| chr5:78136895
|
A | G | 1 | a0001c0001t0002g0014 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.1650+4248T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78136895 | ||||||
| chr5:78136983
|
C | T | 72 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(69): Show | 72 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(69): Show |
intron_variant | MODIFIER | c.1650+4160G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78136983 | ||||||
| chr5:78136987
|
G | A | 109 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(106): Show | 109 | HG00280.hp2 HG00408.hp1 HG00597.hp2 others(106): Show |
intron_variant | MODIFIER | c.1650+4156C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78136987 | ||||||
| chr5:78137103
|
A | C | 1 | a0001c0001t0001g0206 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.1650+4040T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78137103 | ||||||
| chr5:78137165
|
G | C | 2 | a0001c0002t0002g0158a0001c0002t0002g0169 | 2 | HG02135.hp1 NA19002.hp2 |
intron_variant | MODIFIER | c.1650+3978C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78137165 | ||||||
| chr5:78137197
|
T | G | 1 | a0001c0004t0002g0006 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.1650+3946A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78137197 | ||||||
| chr5:78137256
|
T | C | 1 | a0001c0002t0002g0133 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.1650+3887A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78137256 | ||||||
| chr5:78137790
|
G | A | 1 | a0001c0001t0002g0094 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.1650+3353C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78137790 | ||||||
| chr5:78137960
|
A | T | 1 | a0001c0004t0002g0002 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1650+3183T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78137960 | ||||||
| chr5:78138673
|
T | C | 1 | a0001c0004t0002g0006 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.1650+2470A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78138673 | ||||||
| chr5:78138737
|
C | T | 1 | a0001c0001t0002g0117 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.1650+2406G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78138737 | ||||||
| chr5:78138785
|
A | G | 2 | a0001c0002t0002g0158a0001c0002t0002g0169 | 2 | HG02135.hp1 NA19002.hp2 |
intron_variant | MODIFIER | c.1650+2358T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78138785 | ||||||
| chr5:78138842
|
T | C | 5 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(2): Show | 5 | HG02258.hp2 HG02615.hp2 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.1650+2301A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78138842 | ||||||
| chr5:78138865
|
T | G | 107 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(104): Show | 107 | HG00280.hp2 HG00408.hp1 HG00597.hp2 others(104): Show |
intron_variant | MODIFIER | c.1650+2278A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78138865 | ||||||
| chr5:78138930
|
A | G | 2 | a0001c0002t0002g0158a0001c0002t0002g0169 | 2 | HG02135.hp1 NA19002.hp2 |
intron_variant | MODIFIER | c.1650+2213T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78138930 | ||||||
| chr5:78138969
|
C | CA | 99 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(96): Show | 99 | HG00280.hp2 HG00408.hp1 HG00639.hp1 others(96): Show |
intron_variant | MODIFIER | c.1650+2173dupT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78138969 | ||||||
| chr5:78138969
|
C | CAA | 19 | a0001c0001t0002g0028a0001c0001t0002g0033a0001c0001t0002g0118others(16): Show | 19 | HG00597.hp2 HG00741.hp2 HG01361.hp2 others(16): Show |
intron_variant | MODIFIER | c.1650+2172_1650+217 others(6): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78138969 | ||||||
| chr5:78139038
|
GA | G | 110 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(107): Show | 110 | HG00280.hp2 HG00408.hp1 HG00597.hp2 others(107): Show |
intron_variant | MODIFIER | c.1650+2104delT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78139038 | ||||||
| chr5:78139239
|
T | C | 42 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(39): Show | 42 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(39): Show |
intron_variant | MODIFIER | c.1650+1904A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78139239 | ||||||
| chr5:78139617
|
T | C | 1 | a0001c0004t0002g0006 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.1650+1526A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78139617 | ||||||
| chr5:78139658
|
G | A | 1 | a0001c0001t0002g0014 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.1650+1485C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78139658 | ||||||
| chr5:78139719
|
G | A | 2 | a0001c0002t0002g0158a0001c0002t0002g0169 | 2 | HG02135.hp1 NA19002.hp2 |
intron_variant | MODIFIER | c.1650+1424C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78139719 | ||||||
| chr5:78139855
|
G | A | 1 | a0001c0004t0002g0186 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1650+1288C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78139855 | ||||||
| chr5:78140145
|
C | T | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.1650+998G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78140145 | ||||||
| chr5:78140223
|
C | A | 73 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(70): Show | 73 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(70): Show |
intron_variant | MODIFIER | c.1650+920G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78140223 | ||||||
| chr5:78140300
|
G | A | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.1650+843C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78140300 | ||||||
| chr5:78140369
|
C | T | 1 | a0001c0001t0001g0013 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.1650+774G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78140369 | ||||||
| chr5:78140576
|
C | T | 31 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(28): Show | 31 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(28): Show |
intron_variant | MODIFIER | c.1650+567G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78140576 | ||||||
| chr5:78140591
|
T | C | 1 | a0001c0001t0001g0116 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.1650+552A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78140591 | ||||||
| chr5:78140611
|
C | T | 72 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(69): Show | 72 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(69): Show |
intron_variant | MODIFIER | c.1650+532G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78140611 | ||||||
| chr5:78141115
|
G | C | 1 | a0003c0007t0002g0140 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1650+28C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | 78141115 | ||||||
| chr5:78141447
|
A | T | 104 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(101): Show | 104 | HG00280.hp2 HG00408.hp1 HG00597.hp2 others(101): Show |
intron_variant | MODIFIER | c.1474-128T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78141447 | ||||||
| chr5:78141467
|
C | T | 68 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(65): Show | 68 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(65): Show |
intron_variant | MODIFIER | c.1474-148G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78141467 | ||||||
| chr5:78141468
|
G | A | 5 | a0001c0001t0001g0037a0001c0001t0001g0161a0001c0001t0001g0173others(2): Show | 5 | HG02809.hp1 HG03139.hp2 HG03471.hp1 others(2): Show |
intron_variant | MODIFIER | c.1474-149C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78141468 | ||||||
| chr5:78141518
|
G | A | 72 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(69): Show | 72 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(69): Show |
intron_variant | MODIFIER | c.1474-199C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78141518 | ||||||
| chr5:78141612
|
G | C | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.1474-293C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78141612 | ||||||
| chr5:78141626
|
T | C | 10 | a0001c0005t0001g0195a0001c0005t0002g0004a0001c0005t0002g0187others(7): Show | 10 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(7): Show |
intron_variant | MODIFIER | c.1474-307A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78141626 | ||||||
| chr5:78141869
|
G | A | 1 | a0001c0001t0002g0016 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.1474-550C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78141869 | ||||||
| chr5:78142044
|
T | C | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.1474-725A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78142044 | ||||||
| chr5:78142078
|
A | G | 7 | a0001c0012t0001g0142a0003c0007t0002g0072a0003c0007t0002g0079others(4): Show | 7 | HG02723.hp2 HG02818.hp1 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.1474-759T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78142078 | ||||||
| chr5:78142303
|
T | C | 1 | a0001c0002t0002g0160 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.1474-984A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78142303 | ||||||
| chr5:78142435
|
G | A | 1 | a0001c0001t0002g0025 | 1 | NA18973.hp1 | intron_variant | MODIFIER | c.1474-1116C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78142435 | ||||||
| chr5:78142638
|
TAA | T | 73 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(70): Show | 73 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(70): Show |
intron_variant | MODIFIER | c.1474-1321_1474-132 others(6): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78142638 | ||||||
| chr5:78142765
|
G | A | 1 | a0001c0005t0002g0188 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.1474-1446C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78142765 | ||||||
| chr5:78142771
|
C | G | 105 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(102): Show | 105 | HG00280.hp2 HG00408.hp1 HG00597.hp2 others(102): Show |
intron_variant | MODIFIER | c.1474-1452G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78142771 | ||||||
| chr5:78142799
|
A | G | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1474-1480T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78142799 | ||||||
| chr5:78142836
|
G | T | 1 | a0001c0002t0002g0064 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.1474-1517C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78142836 | ||||||
| chr5:78142862
|
C | T | 73 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(70): Show | 73 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(70): Show |
intron_variant | MODIFIER | c.1474-1543G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78142862 | ||||||
| chr5:78142973
|
G | T | 72 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(69): Show | 72 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(69): Show |
intron_variant | MODIFIER | c.1474-1654C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78142973 | ||||||
| chr5:78142983
|
T | C | 2 | a0001c0004t0002g0007a0001c0004t0002g0185 | 2 | HG00642.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.1474-1664A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78142983 | ||||||
| chr5:78143107
|
T | C | 1 | a0001c0005t0002g0192 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1474-1788A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78143107 | ||||||
| chr5:78143118
|
T | C | 5 | a0001c0004t0002g0006a0003c0008t0002g0035a0003c0008t0002g0036others(2): Show | 5 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(2): Show |
intron_variant | MODIFIER | c.1474-1799A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78143118 | ||||||
| chr5:78143424
|
T | C | 1 | a0002c0003t0001g0043 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.1474-2105A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78143424 | ||||||
| chr5:78143436
|
G | GTAAA | 73 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(70): Show | 73 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(70): Show |
intron_variant | MODIFIER | c.1474-2118_1474-211 others(8): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78143436 | ||||||
| chr5:78143603
|
C | T | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.1474-2284G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78143603 | ||||||
| chr5:78143700
|
A | C | 2 | a0001c0004t0002g0007a0001c0004t0002g0185 | 2 | HG00642.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.1474-2381T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78143700 | ||||||
| chr5:78143777
|
G | A | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.1474-2458C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78143777 | ||||||
| chr5:78143808
|
G | A | 49 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(46): Show | 49 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(46): Show |
intron_variant | MODIFIER | c.1474-2489C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78143808 | ||||||
| chr5:78143824
|
G | T | 1 | a0001c0001t0001g0127 | 1 | NA19064.hp1 | intron_variant | MODIFIER | c.1474-2505C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78143824 | ||||||
| chr5:78143883
|
T | C | 49 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(46): Show | 49 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(46): Show |
intron_variant | MODIFIER | c.1474-2564A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78143883 | ||||||
| chr5:78143912
|
A | C | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.1474-2593T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78143912 | ||||||
| chr5:78143969
|
C | T | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.1474-2650G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78143969 | ||||||
| chr5:78143986
|
C | T | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.1474-2667G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78143986 | ||||||
| chr5:78143999
|
T | C | 3 | a0001c0001t0002g0025a0001c0001t0002g0026a0001c0001t0002g0027 | 3 | NA18973.hp1 NA18998.hp2 NA19057.hp2 |
intron_variant | MODIFIER | c.1474-2680A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78143999 | ||||||
| chr5:78144313
|
A | G | 2 | a0001c0005t0002g0004a0001c0005t0002g0190 | 2 | HG02055.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.1474-2994T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78144313 | ||||||
| chr5:78144372
|
G | C | 42 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(39): Show | 42 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(39): Show |
intron_variant | MODIFIER | c.1474-3053C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78144372 | ||||||
| chr5:78144426
|
G | T | 3 | a0001c0004t0002g0001a0001c0004t0002g0002a0001c0004t0002g0003 | 3 | HG02615.hp2 HG03453.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.1474-3107C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78144426 | ||||||
| chr5:78144511
|
T | C | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.1474-3192A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78144511 | ||||||
| chr5:78144580
|
G | GT | 6 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(3): Show | 6 | HG02258.hp2 HG02615.hp2 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.1474-3262dupA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78144580 | ||||||
| chr5:78144821
|
T | C | 34 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(31): Show | 34 | HG00408.hp1 HG00642.hp2 HG01258.hp1 others(31): Show |
intron_variant | MODIFIER | c.1474-3502A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78144821 | ||||||
| chr5:78144829
|
T | TTTG | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.1474-3513_1474-351 others(7): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78144829 | ||||||
| chr5:78144829
|
T | TTTGTTGT others(5): Show |
19 | a0001c0002t0001g0180a0001c0002t0001g0181a0001c0002t0001g0182others(16): Show | 19 | HG00597.hp2 HG02015.hp2 HG02083.hp2 others(16): Show |
intron_variant | MODIFIER | c.1474-3522_1474-351 others(16): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78144829 | ||||||
| chr5:78144829
|
T | TTTGTTGT others(8): Show |
2 | a0001c0004t0002g0007a0001c0004t0002g0185 | 2 | HG00642.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.1474-3525_1474-351 others(19): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78144829 | ||||||
| chr5:78144844
|
G | GTTGTTGT others(5): Show |
29 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0002g0064others(26): Show | 29 | HG00280.hp2 HG00639.hp1 HG00735.hp1 others(26): Show |
intron_variant | MODIFIER | c.1474-3526_1474-352 others(16): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78144844 | ||||||
| chr5:78144880
|
C | A | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.1474-3561G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78144880 | ||||||
| chr5:78145135
|
G | A | 49 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(46): Show | 49 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(46): Show |
intron_variant | MODIFIER | c.1474-3816C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78145135 | ||||||
| chr5:78145315
|
G | A | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1474-3996C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78145315 | ||||||
| chr5:78145352
|
G | A | 1 | a0001c0001t0002g0011 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.1474-4033C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78145352 | ||||||
| chr5:78145475
|
C | A | 49 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(46): Show | 49 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(46): Show |
intron_variant | MODIFIER | c.1474-4156G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78145475 | ||||||
| chr5:78145527
|
G | C | 6 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(3): Show | 6 | HG02258.hp2 HG02615.hp2 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.1474-4208C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78145527 | ||||||
| chr5:78145618
|
G | A | 1 | a0002c0003t0001g0010 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.1474-4299C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78145618 | ||||||
| chr5:78145623
|
T | C | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.1474-4304A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78145623 | ||||||
| chr5:78145854
|
C | T | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.1474-4535G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78145854 | ||||||
| chr5:78145884
|
G | T | 1 | a0001c0001t0001g0217 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.1474-4565C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78145884 | ||||||
| chr5:78145920
|
C | T | 11 | a0001c0004t0001g0077a0001c0005t0001g0195a0001c0005t0002g0004others(8): Show | 11 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(8): Show |
intron_variant | MODIFIER | c.1474-4601G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78145920 | ||||||
| chr5:78146190
|
T | C | 7 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0144others(4): Show | 7 | HG00741.hp1 HG02109.hp2 HG02615.hp1 others(4): Show |
intron_variant | MODIFIER | c.1474-4871A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78146190 | ||||||
| chr5:78146202
|
C | G | 8 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(5): Show | 8 | HG00642.hp2 HG02258.hp2 HG02615.hp2 others(5): Show |
intron_variant | MODIFIER | c.1474-4883G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78146202 | ||||||
| chr5:78146392
|
C | T | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.1474-5073G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78146392 | ||||||
| chr5:78146440
|
G | A | 10 | a0001c0005t0001g0195a0001c0005t0002g0004a0001c0005t0002g0187others(7): Show | 10 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(7): Show |
intron_variant | MODIFIER | c.1474-5121C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78146440 | ||||||
| chr5:78146674
|
G | A | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.1474-5355C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78146674 | ||||||
| chr5:78146743
|
T | C | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.1474-5424A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78146743 | ||||||
| chr5:78146892
|
A | C | 1 | a0001c0001t0002g0011 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.1474-5573T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78146892 | ||||||
| chr5:78146967
|
A | C | 49 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(46): Show | 49 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(46): Show |
intron_variant | MODIFIER | c.1474-5648T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78146967 | ||||||
| chr5:78147076
|
A | G | 224 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(221): Show | 224 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(221): Show |
intron_variant | MODIFIER | c.1474-5757T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78147076 | ||||||
| chr5:78147520
|
T | C | 1 | a0001c0001t0001g0096 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.1474-6201A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78147520 | ||||||
| chr5:78147553
|
T | A | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.1474-6234A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78147553 | ||||||
| chr5:78147718
|
C | T | 11 | a0001c0004t0001g0077a0001c0005t0001g0195a0001c0005t0002g0004others(8): Show | 11 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(8): Show |
intron_variant | MODIFIER | c.1474-6399G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78147718 | ||||||
| chr5:78147972
|
G | A | 1 | a0001c0002t0002g0151 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.1474-6653C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78147972 | ||||||
| chr5:78148030
|
T | TA | 49 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(46): Show | 49 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(46): Show |
intron_variant | MODIFIER | c.1474-6712dupT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78148030 | ||||||
| chr5:78148085
|
A | G | 224 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(221): Show | 224 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(221): Show |
intron_variant | MODIFIER | c.1474-6766T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78148085 | ||||||
| chr5:78148238
|
T | A | 10 | a0001c0005t0001g0195a0001c0005t0002g0004a0001c0005t0002g0187others(7): Show | 10 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(7): Show |
intron_variant | MODIFIER | c.1474-6919A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78148238 | ||||||
| chr5:78148269
|
G | A | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.1474-6950C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78148269 | ||||||
| chr5:78148304
|
C | T | 2 | a0001c0001t0002g0048a0001c0001t0002g0050 | 2 | HG02055.hp1 HG02258.hp1 |
intron_variant | MODIFIER | c.1474-6985G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78148304 | ||||||
| chr5:78148434
|
T | G | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.1474-7115A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78148434 | ||||||
| chr5:78148457
|
G | A | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.1474-7138C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78148457 | ||||||
| chr5:78148494
|
C | T | 1 | a0001c0005t0002g0190 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.1474-7175G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78148494 | ||||||
| chr5:78148516
|
A | C | 1 | a0002c0003t0001g0067 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1474-7197T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78148516 | ||||||
| chr5:78148525
|
C | A | 92 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(89): Show | 92 | HG00280.hp2 HG00408.hp1 HG00597.hp2 others(89): Show |
intron_variant | MODIFIER | c.1474-7206G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78148525 | ||||||
| chr5:78148669
|
T | C | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1474-7350A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78148669 | ||||||
| chr5:78148751
|
T | C | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.1474-7432A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78148751 | ||||||
| chr5:78148753
|
G | A | 1 | a0001c0004t0002g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1474-7434C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78148753 | ||||||
| chr5:78148920
|
T | C | 2 | a0001c0004t0002g0007a0001c0004t0002g0185 | 2 | HG00642.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.1473+7338A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78148920 | ||||||
| chr5:78148937
|
C | T | 3 | a0001c0001t0002g0019a0001c0001t0002g0023a0001c0001t0002g0030 | 3 | NA18992.hp2 NA18995.hp1 NA19002.hp1 |
intron_variant | MODIFIER | c.1473+7321G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78148937 | ||||||
| chr5:78149148
|
C | G | 1 | a0002c0003t0001g0068 | 1 | NA18972.hp2 | intron_variant | MODIFIER | c.1473+7110G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78149148 | ||||||
| chr5:78149191
|
A | T | 2 | a0001c0002t0001g0138a0001c0002t0001g0139 | 2 | HG00639.hp1 HG01106.hp1 |
intron_variant | MODIFIER | c.1473+7067T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78149191 | ||||||
| chr5:78149359
|
A | G | 1 | a0001c0004t0002g0006 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.1473+6899T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78149359 | ||||||
| chr5:78149424
|
G | A | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1473+6834C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78149424 | ||||||
| chr5:78149431
|
G | A | 1 | a0001c0001t0001g0220 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1473+6827C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78149431 | ||||||
| chr5:78149561
|
A | G | 2 | a0001c0004t0002g0007a0001c0004t0002g0185 | 2 | HG00642.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.1473+6697T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78149561 | ||||||
| chr5:78149566
|
A | C | 1 | a0001c0002t0001g0183 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.1473+6692T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78149566 | ||||||
| chr5:78149687
|
G | A | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.1473+6571C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78149687 | ||||||
| chr5:78149928
|
C | CTT | 5 | a0001c0004t0002g0006a0003c0008t0002g0035a0003c0008t0002g0036others(2): Show | 5 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(2): Show |
intron_variant | MODIFIER | c.1473+6328_1473+632 others(6): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78149928 | ||||||
| chr5:78149928
|
CT | C | 12 | a0001c0001t0001g0076a0001c0004t0001g0077a0001c0005t0001g0195others(9): Show | 12 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.1473+6329delA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78149928 | ||||||
| chr5:78150323
|
G | A | 5 | a0001c0004t0002g0006a0003c0008t0002g0035a0003c0008t0002g0036others(2): Show | 5 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(2): Show |
intron_variant | MODIFIER | c.1473+5935C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78150323 | ||||||
| chr5:78150552
|
G | GAAGT | 106 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(103): Show | 106 | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(103): Show |
intron_variant | MODIFIER | c.1473+5705_1473+570 others(8): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78150552 | ||||||
| chr5:78150601
|
C | T | 5 | a0001c0002t0001g0180a0001c0002t0001g0181a0001c0002t0001g0182others(2): Show | 5 | HG00597.hp2 HG02015.hp2 NA18949.hp2 others(2): Show |
intron_variant | MODIFIER | c.1473+5657G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78150601 | ||||||
| chr5:78150662
|
C | T | 1 | a0001c0001t0002g0014 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.1473+5596G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78150662 | ||||||
| chr5:78150772
|
T | C | 2 | a0001c0004t0002g0007a0001c0004t0002g0185 | 2 | HG00642.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.1473+5486A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78150772 | ||||||
| chr5:78150773
|
T | G | 1 | a0001c0004t0002g0006 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.1473+5485A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78150773 | ||||||
| chr5:78150779
|
T | A | 72 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(69): Show | 72 | HG00099.hp1 HG00408.hp1 HG00558.hp2 others(69): Show |
intron_variant | MODIFIER | c.1473+5479A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78150779 | ||||||
| chr5:78150901
|
T | C | 48 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(45): Show | 48 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(45): Show |
intron_variant | MODIFIER | c.1473+5357A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78150901 | ||||||
| chr5:78150955
|
G | C | 1 | a0001c0001t0001g0109 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.1473+5303C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78150955 | ||||||
| chr5:78151004
|
C | T | 6 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(3): Show | 6 | HG02258.hp2 HG02615.hp2 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.1473+5254G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78151004 | ||||||
| chr5:78151088
|
T | A | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.1473+5170A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78151088 | ||||||
| chr5:78151377
|
G | A | 2 | a0001c0002t0002g0158a0001c0002t0002g0169 | 2 | HG02135.hp1 NA19002.hp2 |
intron_variant | MODIFIER | c.1473+4881C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78151377 | ||||||
| chr5:78151568
|
C | T | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.1473+4690G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78151568 | ||||||
| chr5:78151704
|
C | T | 224 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(221): Show | 224 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(221): Show |
intron_variant | MODIFIER | c.1473+4554G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78151704 | ||||||
| chr5:78151811
|
T | TTTCC | 3 | a0001c0004t0001g0077a0001c0004t0002g0007a0001c0004t0002g0185 | 3 | HG00642.hp2 HG02630.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.1473+4443_1473+444 others(8): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78151811 | ||||||
| chr5:78151832
|
CTCCCCTC others(5): Show |
C | 49 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(46): Show | 49 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(46): Show |
intron_variant | MODIFIER | c.1473+4414_1473+442 others(16): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78151832 | ||||||
| chr5:78151834
|
C | G | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.1473+4424G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78151834 | ||||||
| chr5:78151851
|
CCCCCTTC others(4): Show |
C | 1 | a0001c0002t0002g0130 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.1473+4396_1473+440 others(15): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78151851 | ||||||
| chr5:78151872
|
CTCCCCAT others(31): Show |
C | 9 | a0001c0005t0001g0195a0001c0005t0002g0004a0001c0005t0002g0187others(6): Show | 9 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.1473+4348_1473+438 others(42): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78151872 | ||||||
| chr5:78151910
|
G | A | 2 | a0001c0001t0002g0011a0001c0004t0001g0077 | 2 | HG01496.hp1 HG02630.hp1 |
intron_variant | MODIFIER | c.1473+4348C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78151910 | ||||||
| chr5:78151988
|
C | T | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.1473+4270G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78151988 | ||||||
| chr5:78152009
|
C | CCCCTTCC others(73): Show |
41 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0042others(38): Show | 41 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(38): Show |
intron_variant | MODIFIER | c.1473+4169_1473+424 others(84): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78152009 | ||||||
| chr5:78152019
|
CCCCTCCC others(9): Show |
C | 1 | a0001c0004t0002g0006 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.1473+4223_1473+423 others(20): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78152019 | ||||||
| chr5:78152083
|
TTCCTTTC others(9): Show |
T | 1 | a0001c0004t0002g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1473+4159_1473+417 others(20): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78152083 | ||||||
| chr5:78152302
|
G | A | 2 | a0001c0001t0002g0048a0001c0001t0002g0050 | 2 | HG02055.hp1 HG02258.hp1 |
intron_variant | MODIFIER | c.1473+3956C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78152302 | ||||||
| chr5:78152350
|
C | G | 1 | a0001c0001t0001g0029 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.1473+3908G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78152350 | ||||||
| chr5:78152798
|
A | G | 5 | a0001c0004t0002g0006a0003c0008t0002g0035a0003c0008t0002g0036others(2): Show | 5 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(2): Show |
intron_variant | MODIFIER | c.1473+3460T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78152798 | ||||||
| chr5:78152911
|
G | T | 1 | a0001c0001t0001g0144 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1473+3347C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78152911 | ||||||
| chr5:78153083
|
T | C | 12 | a0001c0004t0001g0077a0001c0004t0002g0185a0001c0005t0001g0195others(9): Show | 12 | HG00642.hp2 HG01168.hp1 HG02055.hp2 others(9): Show |
intron_variant | MODIFIER | c.1473+3175A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78153083 | ||||||
| chr5:78153266
|
T | C | 1 | a0001c0001t0002g0016 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.1473+2992A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78153266 | ||||||
| chr5:78153292
|
C | A | 1 | a0001c0004t0002g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1473+2966G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78153292 | ||||||
| chr5:78153308
|
C | T | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1473+2950G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78153308 | ||||||
| chr5:78153381
|
T | C | 1 | a0001c0005t0002g0192 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1473+2877A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78153381 | ||||||
| chr5:78153417
|
C | CT | 13 | a0001c0001t0001g0173a0001c0004t0001g0077a0001c0004t0002g0185others(10): Show | 13 | HG00642.hp2 HG01168.hp1 HG02055.hp2 others(10): Show |
intron_variant | MODIFIER | c.1473+2840dupA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78153417 | ||||||
| chr5:78153476
|
G | T | 1 | a0001c0001t0002g0015 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.1473+2782C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78153476 | ||||||
| chr5:78153683
|
G | T | 55 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(52): Show | 55 | HG00408.hp1 HG00642.hp2 HG01168.hp1 others(52): Show |
intron_variant | MODIFIER | c.1473+2575C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78153683 | ||||||
| chr5:78153763
|
C | G | 1 | a0001c0001t0001g0126 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.1473+2495G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78153763 | ||||||
| chr5:78153810
|
T | G | 3 | a0001c0001t0001g0202a0001c0001t0001g0212a0001c0001t0001g0213 | 3 | HG01934.hp2 HG01981.hp2 NA20752.hp1 |
intron_variant | MODIFIER | c.1473+2448A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78153810 | ||||||
| chr5:78153866
|
C | T | 1 | a0001c0002t0002g0151 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.1473+2392G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78153866 | ||||||
| chr5:78154276
|
C | T | 2 | a0001c0004t0002g0007a0002c0003t0001g0088 | 2 | HG00597.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.1473+1982G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78154276 | ||||||
| chr5:78154322
|
G | C | 1 | a0002c0003t0001g0068 | 1 | NA18972.hp2 | intron_variant | MODIFIER | c.1473+1936C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78154322 | ||||||
| chr5:78154544
|
G | A | 51 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(48): Show | 51 | HG00408.hp1 HG00642.hp2 HG01168.hp1 others(48): Show |
intron_variant | MODIFIER | c.1473+1714C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78154544 | ||||||
| chr5:78154956
|
C | T | 3 | a0001c0001t0002g0019a0001c0001t0002g0023a0001c0001t0002g0030 | 3 | NA18992.hp2 NA18995.hp1 NA19002.hp1 |
intron_variant | MODIFIER | c.1473+1302G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78154956 | ||||||
| chr5:78155004
|
G | C | 51 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(48): Show | 51 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(48): Show |
intron_variant | MODIFIER | c.1473+1254C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78155004 | ||||||
| chr5:78155089
|
T | C | 12 | a0001c0004t0001g0077a0001c0004t0002g0185a0001c0005t0001g0195others(9): Show | 12 | HG00642.hp2 HG01168.hp1 HG02055.hp2 others(9): Show |
intron_variant | MODIFIER | c.1473+1169A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78155089 | ||||||
| chr5:78155126
|
T | C | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.1473+1132A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78155126 | ||||||
| chr5:78155329
|
C | T | 1 | a0002c0003t0001g0088 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.1473+929G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78155329 | ||||||
| chr5:78155609
|
A | T | 1 | a0001c0001t0001g0037 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.1473+649T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78155609 | ||||||
| chr5:78155682
|
A | G | 5 | a0001c0001t0001g0042a0001c0001t0001g0198a0001c0001t0001g0200others(2): Show | 5 | HG00642.hp1 HG01168.hp2 HG01358.hp1 others(2): Show |
intron_variant | MODIFIER | c.1473+576T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78155682 | ||||||
| chr5:78155709
|
G | A | 1 | a0001c0001t0002g0011 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.1473+549C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78155709 | ||||||
| chr5:78155887
|
T | C | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1473+371A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78155887 | ||||||
| chr5:78156015
|
G | A | 1 | a0002c0003t0001g0045 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.1473+243C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78156015 | ||||||
| chr5:78156041
|
T | G | 11 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(8): Show | 11 | HG01884.hp2 HG02258.hp2 HG02615.hp2 others(8): Show |
intron_variant | MODIFIER | c.1473+217A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | 78156041 | ||||||
| chr5:78156385
|
T | C | 5 | a0001c0004t0002g0006a0003c0008t0002g0035a0003c0008t0002g0036others(2): Show | 5 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(2): Show |
intron_variant | MODIFIER | c.1364-18A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 13/26 | chr5 | 78156385 | ||||||
| chr5:78156424
|
A | G | 6 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(3): Show | 6 | HG02258.hp2 HG02615.hp2 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.1364-57T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 13/26 | chr5 | 78156424 | ||||||
| chr5:78156954
|
A | C | 1 | a0001c0004t0002g0226 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.1364-587T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 13/26 | chr5 | 78156954 | ||||||
| chr5:78156982
|
C | T | 1 | a0001c0001t0002g0097 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.1364-615G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 13/26 | chr5 | 78156982 | ||||||
| chr5:78157450
|
C | T | 1 | a0001c0002t0002g0174 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.1364-1083G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 13/26 | chr5 | 78157450 | ||||||
| chr5:78157537
|
C | T | 107 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(104): Show | 107 | HG00280.hp2 HG00408.hp1 HG00597.hp2 others(104): Show |
intron_variant | MODIFIER | c.1364-1170G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 13/26 | chr5 | 78157537 | ||||||
| chr5:78157578
|
T | A | 1 | a0001c0004t0002g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1364-1211A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 13/26 | chr5 | 78157578 | ||||||
| chr5:78157707
|
A | C | 11 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(8): Show | 11 | HG01884.hp2 HG02258.hp2 HG02615.hp2 others(8): Show |
intron_variant | MODIFIER | c.1364-1340T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 13/26 | chr5 | 78157707 | ||||||
| chr5:78157758
|
C | CT | 50 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(47): Show | 50 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(47): Show |
intron_variant | MODIFIER | c.1364-1392dupA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 13/26 | chr5 | 78157758 | ||||||
| chr5:78157806
|
A | G | 56 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(53): Show | 56 | HG00408.hp1 HG00642.hp2 HG01168.hp1 others(53): Show |
intron_variant | MODIFIER | c.1364-1439T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 13/26 | chr5 | 78157806 | ||||||
| chr5:78157940
|
G | A | 1 | a0001c0002t0002g0169 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.1364-1573C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 13/26 | chr5 | 78157940 | ||||||
| chr5:78158028
|
T | C | 191 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(188): Show | 191 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(188): Show |
intron_variant | MODIFIER | c.1364-1661A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 13/26 | chr5 | 78158028 | ||||||
| chr5:78158045
|
G | A | 2 | a0001c0001t0001g0204a0001c0001t0001g0214 | 2 | HG01256.hp1 HG01346.hp2 |
intron_variant | MODIFIER | c.1364-1678C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 13/26 | chr5 | 78158045 | ||||||
| chr5:78158057
|
T | C | 1 | a0001c0001t0002g0030 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.1364-1690A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 13/26 | chr5 | 78158057 | ||||||
| chr5:78158351
|
G | A | 1 | a0002c0003t0001g0010 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.1364-1984C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 13/26 | chr5 | 78158351 | ||||||
| chr5:78158370
|
T | C | 5 | a0001c0005t0002g0004a0001c0005t0002g0189a0001c0005t0002g0190others(2): Show | 5 | HG02055.hp2 HG02280.hp1 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.1364-2003A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 13/26 | chr5 | 78158370 | ||||||
| chr5:78158385
|
A | G | 1 | a0001c0002t0002g0166 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.1364-2018T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 13/26 | chr5 | 78158385 | ||||||
| chr5:78158459
|
CA | C | 6 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(3): Show | 6 | HG02258.hp2 HG02615.hp2 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.1364-2093delT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 13/26 | chr5 | 78158459 | ||||||
| chr5:78158490
|
GCTAA | G | 51 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(48): Show | 51 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(48): Show |
intron_variant | MODIFIER | c.1364-2127_1364-212 others(8): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 13/26 | chr5 | 78158490 | ||||||
| chr5:78158596
|
A | C | 44 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(41): Show | 44 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(41): Show |
intron_variant | MODIFIER | c.1364-2229T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 13/26 | chr5 | 78158596 | ||||||
| chr5:78158625
|
T | C | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.1364-2258A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 13/26 | chr5 | 78158625 | ||||||
| chr5:78158673
|
G | A | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1364-2306C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 13/26 | chr5 | 78158673 | ||||||
| chr5:78158703
|
C | CT | 12 | a0001c0001t0001g0037a0001c0001t0001g0205a0001c0004t0001g0005others(9): Show | 12 | HG02258.hp2 HG02615.hp2 HG02630.hp1 others(9): Show |
intron_variant | MODIFIER | c.1364-2337dupA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 13/26 | chr5 | 78158703 | ||||||
| chr5:78158757
|
C | A | 1 | a0002c0003t0001g0045 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.1364-2390G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 13/26 | chr5 | 78158757 | ||||||
| chr5:78158759
|
C | A | 1 | a0001c0001t0002g0011 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.1364-2392G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 13/26 | chr5 | 78158759 | ||||||
| chr5:78158945
|
G | A | 2 | a0001c0002t0002g0152a0001c0002t0002g0153 | 2 | HG03654.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.1364-2578C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 13/26 | chr5 | 78158945 | ||||||
| chr5:78159332
|
G | A | 2 | a0003c0007t0002g0141a0003c0007t0002g0148 | 2 | HG02818.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.1364-2965C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 13/26 | chr5 | 78159332 | ||||||
| chr5:78159356
|
C | T | 1 | a0001c0004t0002g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1364-2989G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 13/26 | chr5 | 78159356 | ||||||
| chr5:78159393
|
A | G | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1364-3026T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 13/26 | chr5 | 78159393 | ||||||
| chr5:78159614
|
G | C | 51 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(48): Show | 51 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(48): Show |
intron_variant | MODIFIER | c.1363+3205C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 13/26 | chr5 | 78159614 | ||||||
| chr5:78159732
|
T | A | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.1363+3087A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 13/26 | chr5 | 78159732 | ||||||
| chr5:78159741
|
C | T | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.1363+3078G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 13/26 | chr5 | 78159741 | ||||||
| chr5:78159846
|
G | A | 1 | a0001c0004t0002g0002 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1363+2973C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 13/26 | chr5 | 78159846 | ||||||
| chr5:78160030
|
T | C | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.1363+2789A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 13/26 | chr5 | 78160030 | ||||||
| chr5:78160083
|
G | A | 1 | a0001c0005t0002g0192 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1363+2736C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 13/26 | chr5 | 78160083 | ||||||
| chr5:78160120
|
T | C | 1 | a0001c0002t0002g0166 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.1363+2699A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 13/26 | chr5 | 78160120 | ||||||
| chr5:78160257
|
G | A | 51 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(48): Show | 51 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(48): Show |
intron_variant | MODIFIER | c.1363+2562C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 13/26 | chr5 | 78160257 | ||||||
| chr5:78160659
|
A | G | 1 | a0001c0001t0001g0147 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.1363+2160T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 13/26 | chr5 | 78160659 | ||||||
| chr5:78160888
|
A | G | 1 | a0002c0003t0001g0069 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.1363+1931T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 13/26 | chr5 | 78160888 | ||||||
| chr5:78161000
|
GA | G | 30 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(27): Show | 30 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(27): Show |
intron_variant | MODIFIER | c.1363+1818delT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 13/26 | chr5 | 78161000 | ||||||
| chr5:78161050
|
A | G | 1 | a0002c0003t0001g0067 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1363+1769T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 13/26 | chr5 | 78161050 | ||||||
| chr5:78161107
|
G | A | 11 | a0001c0004t0001g0077a0001c0005t0001g0195a0001c0005t0002g0004others(8): Show | 11 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(8): Show |
intron_variant | MODIFIER | c.1363+1712C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 13/26 | chr5 | 78161107 | ||||||
| chr5:78161204
|
A | G | 3 | a0001c0004t0002g0007a0001c0004t0002g0185a0001c0004t0002g0186 | 3 | HG00642.hp2 HG02809.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.1363+1615T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 13/26 | chr5 | 78161204 | ||||||
| chr5:78161440
|
T | C | 1 | a0001c0001t0001g0037 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.1363+1379A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 13/26 | chr5 | 78161440 | ||||||
| chr5:78161871
|
T | C | 51 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(48): Show | 51 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(48): Show |
intron_variant | MODIFIER | c.1363+948A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 13/26 | chr5 | 78161871 | ||||||
| chr5:78162003
|
C | T | 1 | a0001c0001t0001g0225 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.1363+816G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 13/26 | chr5 | 78162003 | ||||||
| chr5:78162081
|
G | C | 5 | a0001c0004t0002g0006a0003c0008t0002g0035a0003c0008t0002g0036others(2): Show | 5 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(2): Show |
intron_variant | MODIFIER | c.1363+738C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 13/26 | chr5 | 78162081 | ||||||
| chr5:78162326
|
T | G | 107 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(104): Show | 107 | HG00280.hp2 HG00408.hp1 HG00597.hp2 others(104): Show |
intron_variant | MODIFIER | c.1363+493A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 13/26 | chr5 | 78162326 | ||||||
| chr5:78162518
|
A | T | 10 | a0001c0005t0001g0195a0001c0005t0002g0004a0001c0005t0002g0187others(7): Show | 10 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(7): Show |
intron_variant | MODIFIER | c.1363+301T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 13/26 | chr5 | 78162518 | ||||||
| chr5:78162621
|
C | T | 1 | a0001c0004t0002g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1363+198G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 13/26 | chr5 | 78162621 | ||||||
| chr5:78163272
|
T | G | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1231-321A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 12/26 | chr5 | 78163272 | ||||||
| chr5:78163278
|
C | A | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.1231-327G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 12/26 | chr5 | 78163278 | ||||||
| chr5:78163335
|
A | T | 12 | a0001c0004t0001g0077a0001c0004t0002g0185a0001c0005t0001g0195others(9): Show | 12 | HG00642.hp2 HG01168.hp1 HG02055.hp2 others(9): Show |
intron_variant | MODIFIER | c.1231-384T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 12/26 | chr5 | 78163335 | ||||||
| chr5:78163591
|
GTA | G | 13 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(10): Show | 13 | HG01884.hp2 HG02258.hp2 HG02451.hp1 others(10): Show |
intron_variant | MODIFIER | c.1231-642_1231-641d others(4): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 12/26 | chr5 | 78163591 | ||||||
| chr5:78163601
|
ATATG | A | 33 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(30): Show | 33 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(30): Show |
intron_variant | MODIFIER | c.1231-654_1231-651d others(6): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 12/26 | chr5 | 78163601 | ||||||
| chr5:78163603
|
A | G | 15 | a0001c0002t0002g0132a0001c0002t0002g0133a0001c0002t0002g0134others(12): Show | 15 | HG00642.hp2 HG01168.hp1 HG02055.hp2 others(12): Show |
intron_variant | MODIFIER | c.1231-652T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 12/26 | chr5 | 78163603 | ||||||
| chr5:78163617
|
A | G | 34 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(31): Show | 34 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(31): Show |
intron_variant | MODIFIER | c.1231-666T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 12/26 | chr5 | 78163617 | ||||||
| chr5:78163623
|
AG | A | 11 | a0001c0004t0002g0185a0001c0005t0001g0195a0001c0005t0002g0004others(8): Show | 11 | HG00642.hp2 HG01168.hp1 HG02055.hp2 others(8): Show |
intron_variant | MODIFIER | c.1231-673delC | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 12/26 | chr5 | 78163623 | ||||||
| chr5:78163633
|
T | C | 1 | a0001c0001t0001g0221 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.1231-682A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 12/26 | chr5 | 78163633 | ||||||
| chr5:78163640
|
C | T | 2 | a0001c0006t0001g0124a0001c0006t0001g0125 | 2 | HG00099.hp1 HG01106.hp2 |
intron_variant | MODIFIER | c.1231-689G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 12/26 | chr5 | 78163640 | ||||||
| chr5:78163640
|
CAT | C | 33 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(30): Show | 33 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(30): Show |
intron_variant | MODIFIER | c.1231-691_1231-690d others(4): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 12/26 | chr5 | 78163640 | ||||||
| chr5:78163652
|
T | C | 3 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0002t0002g0176 | 3 | HG00741.hp1 HG02602.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.1231-701A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 12/26 | chr5 | 78163652 | ||||||
| chr5:78163654
|
C | T | 11 | a0001c0004t0002g0185a0001c0005t0001g0195a0001c0005t0002g0004others(8): Show | 11 | HG00642.hp2 HG01168.hp1 HG02055.hp2 others(8): Show |
intron_variant | MODIFIER | c.1231-703G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 12/26 | chr5 | 78163654 | ||||||
| chr5:78163666
|
T | C | 11 | a0001c0004t0002g0185a0001c0005t0001g0195a0001c0005t0002g0004others(8): Show | 11 | HG00642.hp2 HG01168.hp1 HG02055.hp2 others(8): Show |
intron_variant | MODIFIER | c.1231-715A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 12/26 | chr5 | 78163666 | ||||||
| chr5:78163676
|
C | T | 11 | a0001c0004t0002g0185a0001c0005t0001g0195a0001c0005t0002g0004others(8): Show | 11 | HG00642.hp2 HG01168.hp1 HG02055.hp2 others(8): Show |
intron_variant | MODIFIER | c.1231-725G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 12/26 | chr5 | 78163676 | ||||||
| chr5:78163744
|
T | A | 1 | a0001c0004t0002g0003 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.1231-793A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 12/26 | chr5 | 78163744 | ||||||
| chr5:78163749
|
T | G | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1231-798A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 12/26 | chr5 | 78163749 | ||||||
| chr5:78163818
|
T | C | 9 | a0001c0005t0001g0195a0001c0005t0002g0004a0001c0005t0002g0187others(6): Show | 9 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.1231-867A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 12/26 | chr5 | 78163818 | ||||||
| chr5:78163880
|
C | A | 4 | a0001c0001t0002g0093a0001c0001t0002g0117a0001c0001t0002g0118others(1): Show | 4 | HG01258.hp1 HG01346.hp1 HG01934.hp1 others(1): Show |
intron_variant | MODIFIER | c.1231-929G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 12/26 | chr5 | 78163880 | ||||||
| chr5:78164113
|
A | G | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1231-1162T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 12/26 | chr5 | 78164113 | ||||||
| chr5:78164220
|
G | A | 1 | a0001c0004t0002g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1231-1269C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 12/26 | chr5 | 78164220 | ||||||
| chr5:78164232
|
A | G | 9 | a0001c0005t0001g0195a0001c0005t0002g0004a0001c0005t0002g0187others(6): Show | 9 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.1231-1281T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 12/26 | chr5 | 78164232 | ||||||
| chr5:78164612
|
G | T | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1230+998C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 12/26 | chr5 | 78164612 | ||||||
| chr5:78164637
|
G | C | 56 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(53): Show | 56 | HG00408.hp1 HG00642.hp2 HG01168.hp1 others(53): Show |
intron_variant | MODIFIER | c.1230+973C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 12/26 | chr5 | 78164637 | ||||||
| chr5:78164750
|
C | T | 6 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(3): Show | 6 | HG02258.hp2 HG02615.hp2 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.1230+860G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 12/26 | chr5 | 78164750 | ||||||
| chr5:78164815
|
T | C | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1230+795A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 12/26 | chr5 | 78164815 | ||||||
| chr5:78164888
|
G | A | 31 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(28): Show | 31 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(28): Show |
intron_variant | MODIFIER | c.1230+722C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 12/26 | chr5 | 78164888 | ||||||
| chr5:78165189
|
A | T | 11 | a0001c0004t0002g0185a0001c0005t0001g0195a0001c0005t0002g0004others(8): Show | 11 | HG00642.hp2 HG01168.hp1 HG02055.hp2 others(8): Show |
intron_variant | MODIFIER | c.1230+421T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 12/26 | chr5 | 78165189 | ||||||
| chr5:78165190
|
T | A | 1 | a0002c0003t0001g0010 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.1230+420A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 12/26 | chr5 | 78165190 | ||||||
| chr5:78165219
|
G | A | 1 | a0001c0004t0002g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1230+391C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 12/26 | chr5 | 78165219 | ||||||
| chr5:78165391
|
C | A | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1230+219G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 12/26 | chr5 | 78165391 | ||||||
| chr5:78165400
|
C | T | 1 | a0005c0015t0001g0105 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.1230+210G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 12/26 | chr5 | 78165400 | ||||||
| chr5:78165448
|
G | T | 1 | a0001c0001t0002g0112 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.1230+162C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 12/26 | chr5 | 78165448 | ||||||
| chr5:78165469
|
A | T | 1 | a0001c0004t0002g0006 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.1230+141T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 12/26 | chr5 | 78165469 | ||||||
| chr5:78165484
|
A | C | 1 | a0002c0003t0001g0046 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.1230+126T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 12/26 | chr5 | 78165484 | ||||||
| chr5:78165484
|
AGTT | A | 44 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(41): Show | 44 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(41): Show |
intron_variant | MODIFIER | c.1230+123_1230+125d others(5): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 12/26 | chr5 | 78165484 | ||||||
| chr5:78165517
|
T | C | 11 | a0001c0004t0002g0185a0001c0005t0001g0195a0001c0005t0002g0004others(8): Show | 11 | HG00642.hp2 HG01168.hp1 HG02055.hp2 others(8): Show |
intron_variant | MODIFIER | c.1230+93A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 12/26 | chr5 | 78165517 | ||||||
| chr5:78165731
|
A | G | 5 | a0001c0002t0001g0180a0001c0002t0001g0181a0001c0002t0001g0182others(2): Show | 5 | HG00597.hp2 HG02015.hp2 NA18949.hp2 others(2): Show |
intron_variant | MODIFIER | c.1168-59T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78165731 | ||||||
| chr5:78165742
|
A | G | 56 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(53): Show | 56 | HG00408.hp1 HG00642.hp2 HG01168.hp1 others(53): Show |
intron_variant | MODIFIER | c.1168-70T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78165742 | ||||||
| chr5:78165840
|
G | A | 33 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(30): Show | 33 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(30): Show |
intron_variant | MODIFIER | c.1168-168C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78165840 | ||||||
| chr5:78165883
|
A | G | 1 | a0001c0001t0001g0032 | 1 | NA18978.hp1 | intron_variant | MODIFIER | c.1168-211T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78165883 | ||||||
| chr5:78165924
|
C | T | 6 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(3): Show | 6 | HG02258.hp2 HG02615.hp2 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.1168-252G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78165924 | ||||||
| chr5:78165926
|
G | GGCATGGT others(3): Show |
1 | a0001c0002t0002g0135 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.1168-264_1168-255d others(12): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78165926 | ||||||
| chr5:78166024
|
G | A | 31 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(28): Show | 31 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(28): Show |
intron_variant | MODIFIER | c.1168-352C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78166024 | ||||||
| chr5:78166117
|
TCA | T | 2 | a0001c0010t0002g0024a0003c0008t0002g0035 | 2 | NA18906.hp2 NA18970.hp1 |
intron_variant | MODIFIER | c.1168-447_1168-446d others(4): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78166117 | ||||||
| chr5:78166117
|
TCACA | T | 15 | a0001c0001t0001g0032a0001c0001t0002g0012a0001c0001t0002g0015others(12): Show | 15 | HG00408.hp1 HG02071.hp2 HG02602.hp2 others(12): Show |
intron_variant | MODIFIER | c.1168-449_1168-446d others(6): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78166117 | ||||||
| chr5:78166117
|
TCACACA | T | 19 | a0001c0001t0001g0029a0001c0001t0002g0014a0001c0001t0002g0021others(16): Show | 19 | HG01361.hp2 HG01884.hp2 HG01934.hp1 others(16): Show |
intron_variant | MODIFIER | c.1168-451_1168-446d others(8): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78166117 | ||||||
| chr5:78166117
|
TCACACAC others(1): Show |
T | 32 | a0001c0001t0001g0009a0001c0001t0001g0013a0001c0001t0001g0075others(29): Show | 32 | HG00597.hp2 HG00639.hp1 HG00741.hp1 others(29): Show |
intron_variant | MODIFIER | c.1168-453_1168-446d others(10): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78166117 | ||||||
| chr5:78166117
|
TCACACAC others(3): Show |
T | 45 | a0001c0001t0001g0008a0001c0001t0001g0147a0001c0001t0001g0149others(42): Show | 45 | HG00280.hp2 HG00735.hp1 HG01070.hp1 others(42): Show |
intron_variant | MODIFIER | c.1168-455_1168-446d others(12): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78166117 | ||||||
| chr5:78166117
|
TCACACAC others(5): Show |
T | 46 | a0001c0001t0001g0042a0001c0001t0001g0082a0001c0001t0001g0126others(43): Show | 46 | HG00280.hp1 HG00408.hp2 HG00558.hp1 others(43): Show |
intron_variant | MODIFIER | c.1168-457_1168-446d others(14): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78166117 | ||||||
| chr5:78166117
|
TCACACAC others(7): Show |
T | 35 | a0001c0001t0001g0037a0001c0001t0001g0076a0001c0001t0001g0083others(32): Show | 35 | HG00099.hp1 HG00099.hp2 HG00639.hp2 others(32): Show |
intron_variant | MODIFIER | c.1168-459_1168-446d others(16): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78166117 | ||||||
| chr5:78166117
|
TCACACAC others(9): Show |
T | 16 | a0001c0001t0001g0095a0001c0001t0001g0096a0001c0001t0001g0098others(13): Show | 16 | HG00558.hp2 HG01361.hp1 HG01496.hp2 others(13): Show |
intron_variant | MODIFIER | c.1168-461_1168-446d others(18): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78166117 | ||||||
| chr5:78166117
|
TCACACAC others(11): Show |
T | 2 | a0001c0001t0001g0222a0001c0001t0002g0123 | 2 | HG01928.hp2 NA18950.hp2 |
intron_variant | MODIFIER | c.1168-463_1168-446d others(20): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78166117 | ||||||
| chr5:78166117
|
TCACACAC others(13): Show |
T | 3 | a0001c0001t0001g0199a0001c0001t0001g0207a0001c0001t0001g0210 | 3 | NA18947.hp2 NA18982.hp2 NA19068.hp1 |
intron_variant | MODIFIER | c.1168-465_1168-446d others(22): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78166117 | ||||||
| chr5:78166117
|
TCACACAC others(23): Show |
T | 1 | a0001c0006t0001g0223 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.1168-475_1168-446d others(32): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78166117 | ||||||
| chr5:78166121
|
A | T | 1 | a0003c0008t0002g0035 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1168-449T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78166121 | ||||||
| chr5:78166123
|
A | T | 2 | a0001c0004t0002g0006a0003c0008t0002g0038 | 2 | NA19043.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.1168-451T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78166123 | ||||||
| chr5:78166142
|
C | A | 1 | a0002c0003t0001g0080 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.1168-470G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78166142 | ||||||
| chr5:78166160
|
CACACACA others(6): Show |
C | 1 | a0001c0001t0001g0208 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.1168-501_1168-489d others(15): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78166160 | ||||||
| chr5:78166162
|
CACACACA others(4): Show |
C | 1 | a0001c0001t0001g0091 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1168-501_1168-491d others(13): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78166162 | ||||||
| chr5:78166162
|
CACACACA others(5): Show |
C | 1 | a0001c0001t0001g0106 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.1168-502_1168-491d others(14): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78166162 | ||||||
| chr5:78166337
|
T | C | 12 | a0001c0004t0001g0077a0001c0004t0002g0185a0001c0005t0001g0195others(9): Show | 12 | HG00642.hp2 HG01168.hp1 HG02055.hp2 others(9): Show |
intron_variant | MODIFIER | c.1168-665A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78166337 | ||||||
| chr5:78166455
|
C | A | 1 | a0001c0001t0001g0200 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.1168-783G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78166455 | ||||||
| chr5:78166653
|
T | C | 2 | a0003c0009t0002g0074a0003c0009t0002g0078 | 2 | HG01884.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.1168-981A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78166653 | ||||||
| chr5:78166688
|
A | G | 1 | a0001c0001t0001g0206 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.1168-1016T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78166688 | ||||||
| chr5:78166776
|
G | A | 1 | a0001c0004t0002g0186 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1168-1104C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78166776 | ||||||
| chr5:78166972
|
C | T | 1 | a0001c0004t0002g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1168-1300G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78166972 | ||||||
| chr5:78167126
|
C | T | 51 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(48): Show | 51 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(48): Show |
intron_variant | MODIFIER | c.1168-1454G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78167126 | ||||||
| chr5:78167452
|
T | C | 1 | a0001c0001t0001g0110 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.1168-1780A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78167452 | ||||||
| chr5:78167481
|
C | T | 2 | a0001c0001t0001g0104a0001c0001t0001g0128 | 2 | HG02738.hp2 NA20905.hp2 |
intron_variant | MODIFIER | c.1168-1809G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78167481 | ||||||
| chr5:78167538
|
C | T | 11 | a0001c0004t0002g0185a0001c0005t0001g0195a0001c0005t0002g0004others(8): Show | 11 | HG00642.hp2 HG01168.hp1 HG02055.hp2 others(8): Show |
intron_variant | MODIFIER | c.1168-1866G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78167538 | ||||||
| chr5:78167557
|
T | G | 1 | a0001c0006t0001g0223 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.1168-1885A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78167557 | ||||||
| chr5:78167623
|
TTATA | T | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.1168-1955_1168-195 others(8): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78167623 | ||||||
| chr5:78167626
|
T | TAC | 31 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(28): Show | 31 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(28): Show |
intron_variant | MODIFIER | c.1168-1955_1168-195 others(6): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78167626 | ||||||
| chr5:78167628
|
T | C | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.1168-1956A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78167628 | ||||||
| chr5:78167628
|
T | TAC | 2 | a0001c0001t0002g0011a0001c0004t0001g0005 | 2 | HG01496.hp1 HG02258.hp2 |
intron_variant | MODIFIER | c.1168-1957_1168-195 others(6): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78167628 | ||||||
| chr5:78167630
|
T | C | 39 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(36): Show | 39 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(36): Show |
intron_variant | MODIFIER | c.1168-1958A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78167630 | ||||||
| chr5:78167630
|
T | TAC | 5 | a0001c0005t0002g0004a0001c0005t0002g0189a0001c0005t0002g0190others(2): Show | 5 | HG02055.hp2 HG02280.hp1 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.1168-1959_1168-195 others(6): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78167630 | ||||||
| chr5:78167632
|
T | C | 53 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(50): Show | 53 | HG00408.hp1 HG00408.hp2 HG00642.hp2 others(50): Show |
intron_variant | MODIFIER | c.1168-1960A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78167632 | ||||||
| chr5:78167632
|
T | TAC | 9 | a0001c0001t0001g0075a0001c0001t0001g0082a0001c0001t0001g0083others(6): Show | 9 | HG00735.hp2 HG02647.hp1 HG02683.hp2 others(6): Show |
intron_variant | MODIFIER | c.1168-1962_1168-196 others(6): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78167632 | ||||||
| chr5:78167634
|
C | T | 3 | a0001c0001t0001g0199a0001c0001t0001g0207a0001c0001t0001g0210 | 3 | NA18947.hp2 NA18982.hp2 NA19068.hp1 |
intron_variant | MODIFIER | c.1168-1962G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78167634 | ||||||
| chr5:78167660
|
T | C | 6 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(3): Show | 6 | HG02258.hp2 HG02615.hp2 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.1168-1988A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78167660 | ||||||
| chr5:78167783
|
G | A | 11 | a0001c0004t0002g0185a0001c0005t0001g0195a0001c0005t0002g0004others(8): Show | 11 | HG00642.hp2 HG01168.hp1 HG02055.hp2 others(8): Show |
intron_variant | MODIFIER | c.1168-2111C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78167783 | ||||||
| chr5:78167942
|
G | A | 107 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(104): Show | 107 | HG00280.hp2 HG00408.hp1 HG00597.hp2 others(104): Show |
intron_variant | MODIFIER | c.1168-2270C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78167942 | ||||||
| chr5:78167971
|
T | C | 1 | a0001c0004t0002g0006 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.1168-2299A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78167971 | ||||||
| chr5:78167996
|
T | C | 1 | a0001c0002t0002g0162 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.1168-2324A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78167996 | ||||||
| chr5:78168013
|
G | GA | 63 | a0001c0001t0001g0161a0001c0001t0001g0173a0001c0001t0001g0197others(60): Show | 63 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(60): Show |
intron_variant | MODIFIER | c.1168-2342dupT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78168013 | ||||||
| chr5:78168013
|
GA | G | 30 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(27): Show | 30 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(27): Show |
intron_variant | MODIFIER | c.1168-2342delT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78168013 | ||||||
| chr5:78168013
|
GAA | G | 5 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(2): Show | 5 | HG02258.hp2 HG02615.hp2 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.1168-2343_1168-234 others(6): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78168013 | ||||||
| chr5:78168014
|
A | G | 1 | a0001c0001t0001g0037 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.1168-2342T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78168014 | ||||||
| chr5:78168023
|
A | C | 27 | a0001c0001t0001g0095a0001c0001t0001g0096a0001c0001t0001g0098others(24): Show | 27 | HG00099.hp1 HG00558.hp2 HG01106.hp2 others(24): Show |
intron_variant | MODIFIER | c.1168-2351T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78168023 | ||||||
| chr5:78168029
|
C | A | 2 | a0001c0004t0002g0085a0002c0003t0001g0080 | 2 | HG02698.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.1168-2357G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78168029 | ||||||
| chr5:78168129
|
A | G | 3 | a0003c0007t0002g0072a0003c0007t0002g0079a0003c0007t0002g0081 | 3 | HG02895.hp1 HG03139.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1168-2457T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78168129 | ||||||
| chr5:78168137
|
A | G | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1168-2465T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78168137 | ||||||
| chr5:78168219
|
CTTT | C | 5 | a0001c0002t0002g0175a0001c0002t0002g0176a0001c0002t0002g0177others(2): Show | 5 | HG00280.hp2 HG01070.hp1 HG02148.hp2 others(2): Show |
intron_variant | MODIFIER | c.1168-2550_1168-254 others(7): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78168219 | ||||||
| chr5:78168223
|
TTTC | T | 9 | a0001c0004t0002g0185a0001c0005t0002g0004a0001c0005t0002g0187others(6): Show | 9 | HG00642.hp2 HG02055.hp2 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.1168-2554_1168-255 others(7): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78168223 | ||||||
| chr5:78168226
|
C | CT | 9 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(6): Show | 9 | HG01884.hp2 HG02258.hp2 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.1168-2555dupA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78168226 | ||||||
| chr5:78168226
|
C | T | 2 | a0001c0005t0001g0195a0001c0005t0002g0188 | 2 | HG01168.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.1168-2554G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78168226 | ||||||
| chr5:78168226
|
CTTTTTTT | C | 33 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(30): Show | 33 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(30): Show |
intron_variant | MODIFIER | c.1168-2561_1168-255 others(11): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78168226 | ||||||
| chr5:78168412
|
C | T | 1 | a0002c0003t0001g0060 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.1168-2740G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78168412 | ||||||
| chr5:78168462
|
G | T | 1 | a0001c0004t0002g0003 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.1168-2790C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78168462 | ||||||
| chr5:78168564
|
T | C | 1 | a0001c0001t0002g0016 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.1168-2892A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78168564 | ||||||
| chr5:78168593
|
T | C | 1 | a0001c0004t0002g0186 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1168-2921A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78168593 | ||||||
| chr5:78168616
|
C | T | 7 | a0001c0012t0001g0142a0003c0007t0002g0072a0003c0007t0002g0079others(4): Show | 7 | HG02723.hp2 HG02818.hp1 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.1168-2944G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78168616 | ||||||
| chr5:78168617
|
G | A | 6 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(3): Show | 6 | HG02258.hp2 HG02615.hp2 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.1168-2945C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78168617 | ||||||
| chr5:78168720
|
G | A | 43 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(40): Show | 43 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(40): Show |
intron_variant | MODIFIER | c.1168-3048C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78168720 | ||||||
| chr5:78168750
|
A | G | 1 | a0001c0004t0002g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1168-3078T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78168750 | ||||||
| chr5:78168777
|
A | G | 1 | a0001c0004t0002g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1168-3105T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78168777 | ||||||
| chr5:78168888
|
CTTGACA | C | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.1168-3222_1168-321 others(10): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78168888 | ||||||
| chr5:78168900
|
G | A | 12 | a0001c0004t0001g0077a0001c0004t0002g0185a0001c0005t0001g0195others(9): Show | 12 | HG00642.hp2 HG01168.hp1 HG02055.hp2 others(9): Show |
intron_variant | MODIFIER | c.1168-3228C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78168900 | ||||||
| chr5:78169219
|
T | C | 1 | a0001c0001t0001g0225 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.1168-3547A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78169219 | ||||||
| chr5:78169253
|
ATG | A | 44 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(41): Show | 44 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(41): Show |
intron_variant | MODIFIER | c.1168-3583_1168-358 others(6): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78169253 | ||||||
| chr5:78169278
|
C | T | 51 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(48): Show | 51 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(48): Show |
intron_variant | MODIFIER | c.1168-3606G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78169278 | ||||||
| chr5:78169647
|
C | T | 1 | a0002c0003t0001g0067 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1168-3975G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78169647 | ||||||
| chr5:78169713
|
C | T | 1 | a0001c0005t0002g0188 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.1168-4041G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78169713 | ||||||
| chr5:78169733
|
G | GTTA | 78 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(75): Show | 78 | HG00280.hp2 HG00408.hp1 HG00597.hp2 others(75): Show |
intron_variant | MODIFIER | c.1168-4062_1168-406 others(7): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78169733 | ||||||
| chr5:78169733
|
G | GTTATTTA | 19 | a0001c0001t0002g0019a0001c0001t0002g0023a0001c0002t0001g0180others(16): Show | 19 | HG01168.hp1 HG01361.hp2 HG02055.hp2 others(16): Show |
intron_variant | MODIFIER | c.1168-4062_1168-406 others(11): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78169733 | ||||||
| chr5:78169733
|
G | GTTATTTA others(4): Show |
1 | a0001c0004t0002g0186 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1168-4062_1168-406 others(15): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78169733 | ||||||
| chr5:78169733
|
GTTTA | G | 3 | a0002c0003t0001g0049a0003c0009t0002g0074a0003c0009t0002g0078 | 3 | HG01884.hp1 HG02451.hp2 HG02602.hp2 |
intron_variant | MODIFIER | c.1168-4065_1168-406 others(8): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78169733 | ||||||
| chr5:78169733
|
GTTTAT | G | 8 | a0001c0004t0001g0077a0001c0012t0001g0142a0003c0007t0002g0072others(5): Show | 8 | HG02630.hp1 HG02723.hp2 HG02818.hp1 others(5): Show |
intron_variant | MODIFIER | c.1168-4066_1168-406 others(9): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78169733 | ||||||
| chr5:78169810
|
G | A | 1 | a0001c0001t0002g0093 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.1168-4138C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78169810 | ||||||
| chr5:78169841
|
T | C | 3 | a0001c0002t0002g0154a0001c0002t0002g0160a0001c0002t0002g0162 | 3 | NA18950.hp1 NA18988.hp2 NA19074.hp1 |
intron_variant | MODIFIER | c.1168-4169A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78169841 | ||||||
| chr5:78169946
|
C | T | 1 | a0001c0001t0001g0076 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.1168-4274G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78169946 | ||||||
| chr5:78169958
|
C | G | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1168-4286G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78169958 | ||||||
| chr5:78170030
|
G | A | 3 | a0001c0001t0001g0197a0001c0001t0001g0215a0001c0001t0001g0216 | 3 | HG02523.hp1 NA19063.hp2 NA19081.hp1 |
intron_variant | MODIFIER | c.1168-4358C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78170030 | ||||||
| chr5:78170070
|
T | C | 1 | a0001c0001t0001g0116 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.1168-4398A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78170070 | ||||||
| chr5:78170076
|
A | G | 4 | a0001c0001t0002g0025a0001c0001t0002g0026a0001c0001t0002g0027others(1): Show | 4 | NA18972.hp1 NA18973.hp1 NA18998.hp2 others(1): Show |
intron_variant | MODIFIER | c.1168-4404T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78170076 | ||||||
| chr5:78170109
|
G | A | 1 | a0001c0001t0001g0103 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.1168-4437C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78170109 | ||||||
| chr5:78170175
|
C | G | 107 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(104): Show | 107 | HG00280.hp2 HG00408.hp1 HG00597.hp2 others(104): Show |
intron_variant | MODIFIER | c.1168-4503G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78170175 | ||||||
| chr5:78170225
|
A | G | 11 | a0001c0004t0002g0185a0001c0005t0001g0195a0001c0005t0002g0004others(8): Show | 11 | HG00642.hp2 HG01168.hp1 HG02055.hp2 others(8): Show |
intron_variant | MODIFIER | c.1168-4553T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78170225 | ||||||
| chr5:78170415
|
T | C | 55 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(52): Show | 55 | HG00408.hp1 HG00642.hp2 HG01168.hp1 others(52): Show |
intron_variant | MODIFIER | c.1168-4743A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78170415 | ||||||
| chr5:78170443
|
G | A | 1 | a0002c0003t0002g0031 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1168-4771C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78170443 | ||||||
| chr5:78170501
|
T | C | 1 | a0001c0010t0002g0024 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.1168-4829A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78170501 | ||||||
| chr5:78170520
|
T | C | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1168-4848A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78170520 | ||||||
| chr5:78170831
|
C | G | 56 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(53): Show | 56 | HG00408.hp1 HG00642.hp2 HG01168.hp1 others(53): Show |
intron_variant | MODIFIER | c.1167+4795G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78170831 | ||||||
| chr5:78170866
|
C | G | 1 | a0001c0001t0001g0167 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1167+4760G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78170866 | ||||||
| chr5:78170891
|
T | C | 6 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(3): Show | 6 | HG02258.hp2 HG02615.hp2 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.1167+4735A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78170891 | ||||||
| chr5:78170927
|
G | T | 17 | a0001c0001t0002g0012a0001c0001t0002g0015a0001c0001t0002g0018others(14): Show | 17 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(14): Show |
intron_variant | MODIFIER | c.1167+4699C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78170927 | ||||||
| chr5:78170964
|
T | C | 2 | a0001c0005t0002g0187a0001c0005t0002g0194 | 2 | HG02647.hp2 HG02886.hp1 |
intron_variant | MODIFIER | c.1167+4662A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78170964 | ||||||
| chr5:78171022
|
T | G | 2 | a0001c0005t0002g0004a0001c0005t0002g0190 | 2 | HG02055.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.1167+4604A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78171022 | ||||||
| chr5:78171151
|
T | C | 1 | a0001c0005t0002g0192 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1167+4475A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78171151 | ||||||
| chr5:78171176
|
C | T | 1 | a0001c0002t0002g0174 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.1167+4450G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78171176 | ||||||
| chr5:78171309
|
A | G | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1167+4317T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78171309 | ||||||
| chr5:78171346
|
C | A | 1 | a0001c0001t0001g0075 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1167+4280G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78171346 | ||||||
| chr5:78171514
|
A | G | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1167+4112T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78171514 | ||||||
| chr5:78171573
|
T | C | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.1167+4053A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78171573 | ||||||
| chr5:78171579
|
T | C | 1 | a0008c0011t0002g0165 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.1167+4047A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78171579 | ||||||
| chr5:78171615
|
T | G | 1 | a0001c0001t0002g0011 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.1167+4011A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78171615 | ||||||
| chr5:78171724
|
C | T | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.1167+3902G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78171724 | ||||||
| chr5:78172000
|
G | A | 27 | a0001c0001t0001g0095a0001c0001t0001g0096a0001c0001t0001g0098others(24): Show | 27 | HG00099.hp1 HG00558.hp2 HG01106.hp2 others(24): Show |
intron_variant | MODIFIER | c.1167+3626C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78172000 | ||||||
| chr5:78172012
|
G | A | 1 | a0002c0003t0001g0046 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.1167+3614C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78172012 | ||||||
| chr5:78172012
|
G | T | 1 | a0001c0004t0002g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1167+3614C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78172012 | ||||||
| chr5:78172563
|
T | C | 7 | a0001c0001t0001g0201a0001c0001t0001g0203a0001c0001t0001g0204others(4): Show | 7 | HG01256.hp1 HG01346.hp2 HG02004.hp1 others(4): Show |
intron_variant | MODIFIER | c.1167+3063A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78172563 | ||||||
| chr5:78172680
|
C | A | 2 | a0001c0004t0001g0087a0001c0004t0002g0085 | 2 | HG02809.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.1167+2946G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78172680 | ||||||
| chr5:78172718
|
G | A | 1 | a0002c0003t0001g0066 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.1167+2908C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78172718 | ||||||
| chr5:78172843
|
C | T | 106 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(103): Show | 106 | HG00280.hp2 HG00408.hp1 HG00597.hp2 others(103): Show |
intron_variant | MODIFIER | c.1167+2783G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78172843 | ||||||
| chr5:78172939
|
C | G | 2 | a0001c0001t0001g0102a0001c0001t0001g0103 | 2 | HG00099.hp2 HG00639.hp2 |
intron_variant | MODIFIER | c.1167+2687G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78172939 | ||||||
| chr5:78173203
|
T | C | 55 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(52): Show | 55 | HG00408.hp1 HG00642.hp2 HG01168.hp1 others(52): Show |
intron_variant | MODIFIER | c.1167+2423A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78173203 | ||||||
| chr5:78173247
|
G | C | 1 | a0003c0007t0002g0140 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1167+2379C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78173247 | ||||||
| chr5:78173370
|
C | T | 1 | a0001c0004t0002g0006 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.1167+2256G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78173370 | ||||||
| chr5:78173523
|
T | A | 1 | a0003c0007t0002g0072 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.1167+2103A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78173523 | ||||||
| chr5:78173653
|
G | GACAGGTC others(560): Show |
11 | a0001c0004t0001g0077a0001c0004t0002g0185a0001c0005t0001g0195others(8): Show | 11 | HG00642.hp2 HG01168.hp1 HG02280.hp1 others(8): Show |
intron_variant | MODIFIER | c.1167+1972_1167+197 others(571): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78173653 | ||||||
| chr5:78173653
|
G | GACAGGTC others(560): Show |
1 | a0001c0005t0002g0004 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1167+1972_1167+197 others(571): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78173653 | ||||||
| chr5:78173975
|
G | A | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.1167+1651C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78173975 | ||||||
| chr5:78174190
|
TCATCAAA others(9): Show |
T | 1 | a0001c0001t0001g0098 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.1167+1420_1167+143 others(20): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78174190 | ||||||
| chr5:78174335
|
G | C | 51 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(48): Show | 51 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(48): Show |
intron_variant | MODIFIER | c.1167+1291C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78174335 | ||||||
| chr5:78174401
|
C | T | 2 | a0001c0001t0001g0104a0001c0001t0001g0128 | 2 | HG02738.hp2 NA20905.hp2 |
intron_variant | MODIFIER | c.1167+1225G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78174401 | ||||||
| chr5:78174445
|
G | A | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.1167+1181C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78174445 | ||||||
| chr5:78174514
|
G | A | 2 | a0003c0009t0002g0074a0003c0009t0002g0078 | 2 | HG01884.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.1167+1112C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78174514 | ||||||
| chr5:78174539
|
C | CAGCACAG others(10): Show |
1 | a0001c0001t0002g0011 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.1167+1070_1167+108 others(21): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78174539 | ||||||
| chr5:78174714
|
T | C | 2 | a0001c0004t0002g0007a0001c0004t0002g0185 | 2 | HG00642.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.1167+912A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78174714 | ||||||
| chr5:78174730
|
A | G | 106 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(103): Show | 106 | HG00280.hp2 HG00408.hp1 HG00597.hp2 others(103): Show |
intron_variant | MODIFIER | c.1167+896T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78174730 | ||||||
| chr5:78174774
|
C | T | 1 | a0001c0004t0002g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1167+852G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78174774 | ||||||
| chr5:78174895
|
C | T | 1 | a0001c0001t0001g0225 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.1167+731G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78174895 | ||||||
| chr5:78174961
|
G | A | 11 | a0001c0004t0001g0077a0001c0005t0001g0195a0001c0005t0002g0004others(8): Show | 11 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(8): Show |
intron_variant | MODIFIER | c.1167+665C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78174961 | ||||||
| chr5:78175080
|
G | A | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1167+546C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78175080 | ||||||
| chr5:78175279
|
A | G | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.1167+347T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78175279 | ||||||
| chr5:78175287
|
C | T | 1 | a0003c0008t0002g0038 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1167+339G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78175287 | ||||||
| chr5:78175289
|
C | T | 7 | a0001c0001t0001g0110a0001c0006t0001g0040a0001c0006t0001g0113others(4): Show | 7 | HG00099.hp1 HG01106.hp2 HG01256.hp2 others(4): Show |
intron_variant | MODIFIER | c.1167+337G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78175289 | ||||||
| chr5:78175483
|
G | A | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.1167+143C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78175483 | ||||||
| chr5:78175506
|
C | T | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1167+120G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | 78175506 | ||||||
| chr5:78175767
|
G | A | 5 | a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0002g0048others(2): Show | 5 | HG02055.hp1 HG02258.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1095+17C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 10/26 | chr5 | 78175767 | ||||||
| chr5:78176002
|
C | T | 11 | a0001c0004t0001g0077a0001c0005t0001g0195a0001c0005t0002g0004others(8): Show | 11 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(8): Show |
intron_variant | MODIFIER | c.1041-164G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 9/26 | chr5 | 78176002 | ||||||
| chr5:78176197
|
C | A | 2 | a0001c0001t0002g0117a0001c0001t0002g0118 | 2 | HG01934.hp1 HG02004.hp2 |
intron_variant | MODIFIER | c.1041-359G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 9/26 | chr5 | 78176197 | ||||||
| chr5:78176343
|
GA | G | 47 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(44): Show | 47 | HG00408.hp1 HG00642.hp2 HG01258.hp1 others(44): Show |
intron_variant | MODIFIER | c.1041-506delT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 9/26 | chr5 | 78176343 | ||||||
| chr5:78176343
|
GAA | G | 11 | a0001c0004t0001g0077a0001c0005t0001g0195a0001c0005t0002g0004others(8): Show | 11 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(8): Show |
intron_variant | MODIFIER | c.1041-507_1041-506d others(4): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 9/26 | chr5 | 78176343 | ||||||
| chr5:78176462
|
A | G | 1 | a0001c0001t0001g0167 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1041-624T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 9/26 | chr5 | 78176462 | ||||||
| chr5:78176599
|
G | A | 1 | a0001c0001t0001g0199 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.1040+740C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 9/26 | chr5 | 78176599 | ||||||
| chr5:78176609
|
T | C | 51 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(48): Show | 51 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(48): Show |
intron_variant | MODIFIER | c.1040+730A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 9/26 | chr5 | 78176609 | ||||||
| chr5:78176624
|
T | C | 1 | a0001c0001t0001g0075 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1040+715A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 9/26 | chr5 | 78176624 | ||||||
| chr5:78176654
|
T | G | 1 | a0001c0004t0002g0186 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1040+685A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 9/26 | chr5 | 78176654 | ||||||
| chr5:78176710
|
T | G | 1 | a0002c0003t0001g0062 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.1040+629A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 9/26 | chr5 | 78176710 | ||||||
| chr5:78176802
|
T | C | 1 | a0001c0004t0002g0186 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1040+537A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 9/26 | chr5 | 78176802 | ||||||
| chr5:78176806
|
A | G | 2 | a0001c0004t0002g0007a0001c0004t0002g0185 | 2 | HG00642.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.1040+533T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 9/26 | chr5 | 78176806 | ||||||
| chr5:78177239
|
T | C | 2 | a0001c0005t0002g0189a0001c0005t0002g0191 | 2 | HG02280.hp1 HG02630.hp2 |
intron_variant | MODIFIER | c.1040+100A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 9/26 | chr5 | 78177239 | ||||||
| chr5:78177330
|
A | T | 1 | a0001c0005t0002g0192 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1040+9T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 9/26 | chr5 | 78177330 | ||||||
| chr5:78177595
|
T | C | 107 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(104): Show | 107 | HG00280.hp2 HG00408.hp1 HG00597.hp2 others(104): Show |
intron_variant | MODIFIER | c.943-159A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 8/26 | chr5 | 78177595 | ||||||
| chr5:78177818
|
C | T | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.943-382G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 8/26 | chr5 | 78177818 | ||||||
| chr5:78177959
|
C | A | 1 | a0002c0003t0001g0062 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.943-523G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 8/26 | chr5 | 78177959 | ||||||
| chr5:78178083
|
C | T | 1 | a0003c0008t0002g0038 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.943-647G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 8/26 | chr5 | 78178083 | ||||||
| chr5:78178084
|
G | A | 2 | a0001c0004t0002g0186a0003c0007t0002g0072 | 2 | HG02895.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.943-648C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 8/26 | chr5 | 78178084 | ||||||
| chr5:78178245
|
C | T | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.943-809G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 8/26 | chr5 | 78178245 | ||||||
| chr5:78178248
|
C | A | 1 | a0001c0005t0002g0192 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.943-812G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 8/26 | chr5 | 78178248 | ||||||
| chr5:78178494
|
C | G | 1 | a0001c0002t0002g0169 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.943-1058G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 8/26 | chr5 | 78178494 | ||||||
| chr5:78178512
|
C | T | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.943-1076G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 8/26 | chr5 | 78178512 | ||||||
| chr5:78178810
|
G | C | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.943-1374C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 8/26 | chr5 | 78178810 | ||||||
| chr5:78178921
|
G | A | 1 | a0002c0003t0001g0092 | 1 | NA18989.hp2 | intron_variant | MODIFIER | c.943-1485C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 8/26 | chr5 | 78178921 | ||||||
| chr5:78179354
|
T | C | 96 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(93): Show | 96 | HG00280.hp2 HG00408.hp1 HG00597.hp2 others(93): Show |
intron_variant | MODIFIER | c.943-1918A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 8/26 | chr5 | 78179354 | ||||||
| chr5:78179457
|
G | T | 97 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(94): Show | 97 | HG00280.hp2 HG00408.hp1 HG00597.hp2 others(94): Show |
intron_variant | MODIFIER | c.943-2021C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 8/26 | chr5 | 78179457 | ||||||
| chr5:78179742
|
A | C | 2 | a0001c0002t0002g0158a0001c0002t0002g0169 | 2 | HG02135.hp1 NA19002.hp2 |
intron_variant | MODIFIER | c.942+1765T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 8/26 | chr5 | 78179742 | ||||||
| chr5:78180102
|
C | G | 6 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(3): Show | 6 | HG02258.hp2 HG02615.hp2 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.942+1405G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 8/26 | chr5 | 78180102 | ||||||
| chr5:78180465
|
A | G | 51 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(48): Show | 51 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(48): Show |
intron_variant | MODIFIER | c.942+1042T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 8/26 | chr5 | 78180465 | ||||||
| chr5:78180488
|
A | C | 14 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(11): Show | 14 | HG00642.hp2 HG01168.hp1 HG02055.hp2 others(11): Show |
intron_variant | MODIFIER | c.942+1019T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 8/26 | chr5 | 78180488 | ||||||
| chr5:78180692
|
C | A | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.942+815G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 8/26 | chr5 | 78180692 | ||||||
| chr5:78180731
|
G | A | 1 | a0001c0004t0002g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.942+776C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 8/26 | chr5 | 78180731 | ||||||
| chr5:78181071
|
G | T | 1 | a0001c0001t0002g0033 | 1 | NA18972.hp1 | intron_variant | MODIFIER | c.942+436C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 8/26 | chr5 | 78181071 | ||||||
| chr5:78181092
|
C | T | 11 | a0001c0004t0002g0185a0001c0005t0001g0195a0001c0005t0002g0004others(8): Show | 11 | HG00642.hp2 HG01168.hp1 HG02055.hp2 others(8): Show |
intron_variant | MODIFIER | c.942+415G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 8/26 | chr5 | 78181092 | ||||||
| chr5:78181810
|
C | G | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.787-148G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78181810 | ||||||
| chr5:78182157
|
C | T | 55 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(52): Show | 55 | HG00408.hp1 HG00642.hp2 HG01168.hp1 others(52): Show |
intron_variant | MODIFIER | c.787-495G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78182157 | ||||||
| chr5:78182341
|
C | G | 6 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(3): Show | 6 | HG02258.hp2 HG02615.hp2 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.787-679G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78182341 | ||||||
| chr5:78182765
|
T | G | 1 | a0001c0005t0001g0195 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.787-1103A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78182765 | ||||||
| chr5:78183173
|
A | G | 1 | a0001c0001t0001g0201 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.787-1511T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78183173 | ||||||
| chr5:78183288
|
T | C | 1 | a0002c0003t0001g0069 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.787-1626A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78183288 | ||||||
| chr5:78183298
|
G | A | 1 | a0001c0002t0002g0146 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.787-1636C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78183298 | ||||||
| chr5:78183392
|
A | T | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.787-1730T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78183392 | ||||||
| chr5:78183494
|
T | A | 11 | a0001c0004t0001g0077a0001c0005t0001g0195a0001c0005t0002g0004others(8): Show | 11 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(8): Show |
intron_variant | MODIFIER | c.787-1832A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78183494 | ||||||
| chr5:78183591
|
T | C | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.787-1929A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78183591 | ||||||
| chr5:78183624
|
C | G | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.787-1962G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78183624 | ||||||
| chr5:78183673
|
C | A | 1 | a0001c0004t0002g0006 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.787-2011G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78183673 | ||||||
| chr5:78183792
|
A | C | 11 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(8): Show | 11 | HG01884.hp2 HG02258.hp2 HG02615.hp2 others(8): Show |
intron_variant | MODIFIER | c.787-2130T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78183792 | ||||||
| chr5:78183823
|
C | T | 10 | a0001c0005t0001g0195a0001c0005t0002g0004a0001c0005t0002g0187others(7): Show | 10 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(7): Show |
intron_variant | MODIFIER | c.787-2161G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78183823 | ||||||
| chr5:78183847
|
A | T | 2 | a0001c0004t0002g0007a0001c0004t0002g0185 | 2 | HG00642.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.787-2185T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78183847 | ||||||
| chr5:78183857
|
A | C | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.787-2195T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78183857 | ||||||
| chr5:78183867
|
T | TA | 21 | a0001c0001t0001g0029a0001c0001t0001g0042a0001c0001t0001g0104others(18): Show | 21 | HG00642.hp1 HG01168.hp2 HG01175.hp2 others(18): Show |
intron_variant | MODIFIER | c.787-2206dupT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78183867 | ||||||
| chr5:78183922
|
C | A | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.787-2260G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78183922 | ||||||
| chr5:78183924
|
T | C | 56 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(53): Show | 56 | HG00408.hp1 HG00642.hp2 HG01168.hp1 others(53): Show |
intron_variant | MODIFIER | c.787-2262A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78183924 | ||||||
| chr5:78183936
|
G | A | 1 | a0002c0003t0001g0092 | 1 | NA18989.hp2 | intron_variant | MODIFIER | c.787-2274C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78183936 | ||||||
| chr5:78184274
|
T | C | 1 | a0001c0004t0002g0006 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.787-2612A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78184274 | ||||||
| chr5:78184370
|
T | C | 1 | a0001c0002t0001g0184 | 1 | NA18978.hp2 | intron_variant | MODIFIER | c.787-2708A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78184370 | ||||||
| chr5:78184510
|
C | T | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.787-2848G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78184510 | ||||||
| chr5:78184547
|
G | A | 2 | a0001c0006t0001g0113a0001c0006t0001g0114 | 2 | HG01256.hp2 HG01258.hp2 |
intron_variant | MODIFIER | c.787-2885C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78184547 | ||||||
| chr5:78184550
|
TG | T | 5 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(2): Show | 5 | HG02258.hp2 HG02615.hp2 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.787-2889delC | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78184550 | ||||||
| chr5:78184552
|
G | GT | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.787-2891dupA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78184552 | ||||||
| chr5:78184674
|
G | A | 2 | a0001c0001t0002g0019a0001c0001t0002g0023 | 2 | NA18992.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.787-3012C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78184674 | ||||||
| chr5:78184686
|
C | CAAAAAA | 30 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0002g0012others(27): Show | 30 | HG00408.hp1 HG00642.hp2 HG01258.hp1 others(27): Show |
intron_variant | MODIFIER | c.787-3030_787-3025d others(8): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78184686 | ||||||
| chr5:78184686
|
C | CAAAAAAA others(1): Show |
5 | a0001c0004t0002g0006a0003c0008t0002g0035a0003c0008t0002g0036others(2): Show | 5 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(2): Show |
intron_variant | MODIFIER | c.787-3032_787-3025d others(10): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78184686 | ||||||
| chr5:78184686
|
C | CAAAAAAA others(2): Show |
6 | a0001c0004t0001g0077a0001c0004t0002g0001a0001c0004t0002g0002others(3): Show | 6 | HG02615.hp2 HG02630.hp1 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.787-3033_787-3025d others(11): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78184686 | ||||||
| chr5:78184686
|
C | CAAAAAAA others(3): Show |
1 | a0001c0004t0001g0005 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.787-3034_787-3025d others(12): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78184686 | ||||||
| chr5:78184686
|
C | CAAAAAAA others(9): Show |
3 | a0001c0005t0002g0187a0001c0005t0002g0188a0001c0005t0002g0192 | 3 | HG01168.hp1 HG02451.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.787-3025_787-3024i others(18): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78184686 | ||||||
| chr5:78184686
|
C | CAAAAAAA others(10): Show |
5 | a0001c0005t0001g0195a0001c0005t0002g0190a0001c0005t0002g0191others(2): Show | 5 | HG02280.hp1 HG02886.hp1 HG03486.hp1 others(2): Show |
intron_variant | MODIFIER | c.787-3025_787-3024i others(19): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78184686 | ||||||
| chr5:78184686
|
C | CAAAAAAA others(11): Show |
2 | a0001c0005t0002g0004a0001c0005t0002g0189 | 2 | HG02055.hp2 HG02630.hp2 |
intron_variant | MODIFIER | c.787-3025_787-3024i others(20): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78184686 | ||||||
| chr5:78184686
|
C | CAAAAAAA others(17): Show |
1 | a0001c0001t0002g0011 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.787-3025_787-3024i others(26): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78184686 | ||||||
| chr5:78184700
|
C | A | 11 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(8): Show | 11 | HG01884.hp2 HG02258.hp2 HG02615.hp2 others(8): Show |
intron_variant | MODIFIER | c.787-3038G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78184700 | ||||||
| chr5:78184811
|
G | A | 1 | a0002c0003t0001g0045 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.787-3149C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78184811 | ||||||
| chr5:78185172
|
A | G | 11 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(8): Show | 11 | HG01884.hp2 HG02258.hp2 HG02615.hp2 others(8): Show |
intron_variant | MODIFIER | c.787-3510T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78185172 | ||||||
| chr5:78185653
|
G | A | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.787-3991C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78185653 | ||||||
| chr5:78185655
|
T | A | 1 | a0001c0001t0002g0093 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.787-3993A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78185655 | ||||||
| chr5:78185707
|
A | T | 3 | a0001c0001t0001g0106a0001c0001t0001g0107a0001c0001t0001g0122 | 3 | HG01361.hp1 HG02109.hp1 HG03704.hp1 |
intron_variant | MODIFIER | c.787-4045T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78185707 | ||||||
| chr5:78185785
|
A | G | 1 | a0001c0001t0002g0119 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.787-4123T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78185785 | ||||||
| chr5:78186032
|
C | A | 10 | a0001c0005t0001g0195a0001c0005t0002g0004a0001c0005t0002g0187others(7): Show | 10 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(7): Show |
intron_variant | MODIFIER | c.787-4370G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78186032 | ||||||
| chr5:78186033
|
G | C | 1 | a0001c0001t0002g0011 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.787-4371C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78186033 | ||||||
| chr5:78186386
|
C | T | 106 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(103): Show | 106 | HG00280.hp2 HG00408.hp1 HG00597.hp2 others(103): Show |
intron_variant | MODIFIER | c.787-4724G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78186386 | ||||||
| chr5:78186475
|
C | T | 1 | a0001c0001t0001g0104 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.787-4813G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78186475 | ||||||
| chr5:78186476
|
G | A | 33 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(30): Show | 33 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(30): Show |
intron_variant | MODIFIER | c.787-4814C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78186476 | ||||||
| chr5:78187332
|
A | G | 1 | a0001c0001t0001g0107 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.787-5670T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78187332 | ||||||
| chr5:78187371
|
T | C | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.787-5709A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78187371 | ||||||
| chr5:78187400
|
A | G | 2 | a0001c0002t0002g0176a0001c0002t0002g0179 | 2 | HG02602.hp1 HG02738.hp1 |
intron_variant | MODIFIER | c.787-5738T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78187400 | ||||||
| chr5:78187402
|
T | C | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.787-5740A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78187402 | ||||||
| chr5:78187451
|
A | T | 1 | a0001c0001t0001g0076 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.787-5789T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78187451 | ||||||
| chr5:78187482
|
A | T | 1 | a0001c0004t0001g0005 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.787-5820T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78187482 | ||||||
| chr5:78187493
|
T | C | 1 | a0002c0003t0001g0068 | 1 | NA18972.hp2 | intron_variant | MODIFIER | c.787-5831A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78187493 | ||||||
| chr5:78187530
|
T | C | 1 | a0001c0002t0002g0171 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.787-5868A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78187530 | ||||||
| chr5:78187685
|
T | C | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.787-6023A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78187685 | ||||||
| chr5:78187703
|
T | G | 2 | a0002c0003t0001g0010a0002c0003t0001g0070 | 2 | HG03834.hp1 HG04199.hp1 |
intron_variant | MODIFIER | c.787-6041A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78187703 | ||||||
| chr5:78188032
|
G | A | 10 | a0001c0005t0001g0195a0001c0005t0002g0004a0001c0005t0002g0187others(7): Show | 10 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(7): Show |
intron_variant | MODIFIER | c.787-6370C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78188032 | ||||||
| chr5:78188563
|
T | A | 1 | a0001c0001t0001g0127 | 1 | NA19064.hp1 | intron_variant | MODIFIER | c.787-6901A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78188563 | ||||||
| chr5:78188582
|
C | T | 5 | a0001c0005t0002g0004a0001c0005t0002g0189a0001c0005t0002g0190others(2): Show | 5 | HG02055.hp2 HG02280.hp1 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.787-6920G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78188582 | ||||||
| chr5:78188642
|
G | A | 10 | a0001c0005t0001g0195a0001c0005t0002g0004a0001c0005t0002g0187others(7): Show | 10 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(7): Show |
intron_variant | MODIFIER | c.787-6980C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78188642 | ||||||
| chr5:78188775
|
C | T | 31 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(28): Show | 31 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(28): Show |
intron_variant | MODIFIER | c.787-7113G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78188775 | ||||||
| chr5:78188838
|
C | T | 1 | a0001c0005t0001g0195 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.787-7176G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78188838 | ||||||
| chr5:78188909
|
G | A | 1 | a0001c0001t0001g0099 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.787-7247C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78188909 | ||||||
| chr5:78188995
|
C | T | 3 | a0001c0001t0001g0075a0001c0001t0001g0082a0001c0001t0001g0126 | 3 | HG00735.hp2 HG02647.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.787-7333G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78188995 | ||||||
| chr5:78189096
|
A | C | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.787-7434T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78189096 | ||||||
| chr5:78189120
|
C | T | 10 | a0001c0005t0001g0195a0001c0005t0002g0004a0001c0005t0002g0187others(7): Show | 10 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(7): Show |
intron_variant | MODIFIER | c.787-7458G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78189120 | ||||||
| chr5:78189232
|
T | C | 2 | a0001c0004t0002g0007a0001c0004t0002g0185 | 2 | HG00642.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.787-7570A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78189232 | ||||||
| chr5:78189249
|
A | T | 54 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(51): Show | 54 | HG00408.hp1 HG00642.hp2 HG01168.hp1 others(51): Show |
intron_variant | MODIFIER | c.787-7587T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78189249 | ||||||
| chr5:78189263
|
A | T | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.787-7601T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78189263 | ||||||
| chr5:78189270
|
T | C | 10 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(7): Show | 10 | HG01884.hp2 HG02258.hp2 HG02615.hp2 others(7): Show |
intron_variant | MODIFIER | c.787-7608A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78189270 | ||||||
| chr5:78189304
|
C | G | 51 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(48): Show | 51 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(48): Show |
intron_variant | MODIFIER | c.787-7642G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78189304 | ||||||
| chr5:78189356
|
T | C | 6 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(3): Show | 6 | HG02258.hp2 HG02615.hp2 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.787-7694A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78189356 | ||||||
| chr5:78189634
|
C | T | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.787-7972G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78189634 | ||||||
| chr5:78189662
|
G | A | 1 | a0001c0006t0001g0040 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.787-8000C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78189662 | ||||||
| chr5:78189690
|
T | C | 1 | a0001c0004t0002g0006 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.787-8028A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78189690 | ||||||
| chr5:78189734
|
G | A | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.787-8072C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78189734 | ||||||
| chr5:78189869
|
C | CAAATA | 31 | a0001c0001t0001g0083a0001c0001t0001g0108a0001c0001t0001g0127others(28): Show | 31 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(28): Show |
intron_variant | MODIFIER | c.787-8212_787-8208d others(7): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78189869 | ||||||
| chr5:78189869
|
C | CAAATAAA others(3): Show |
22 | a0001c0001t0001g0042a0001c0001t0001g0098a0001c0001t0001g0173others(19): Show | 22 | HG00280.hp1 HG00558.hp2 HG01070.hp1 others(19): Show |
intron_variant | MODIFIER | c.787-8217_787-8208d others(12): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78189869 | ||||||
| chr5:78189869
|
C | CAAATAAA others(8): Show |
4 | a0002c0003t0001g0049a0002c0003t0001g0053a0002c0003t0001g0065others(1): Show | 4 | HG02083.hp1 HG02602.hp2 NA18990.hp1 others(1): Show |
intron_variant | MODIFIER | c.787-8222_787-8208d others(17): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78189869 | ||||||
| chr5:78189869
|
C | CAAATAAA others(13): Show |
1 | a0002c0003t0001g0045 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.787-8227_787-8208d others(22): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78189869 | ||||||
| chr5:78189869
|
CAAATA | C | 29 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0037others(26): Show | 29 | HG00741.hp1 HG01256.hp2 HG01258.hp2 others(26): Show |
intron_variant | MODIFIER | c.787-8212_787-8208d others(7): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78189869 | ||||||
| chr5:78189869
|
CAAATAAA others(3): Show |
C | 10 | a0001c0001t0001g0209a0001c0002t0002g0133a0001c0002t0002g0134others(7): Show | 10 | HG01168.hp1 HG01515.hp1 HG02258.hp2 others(7): Show |
intron_variant | MODIFIER | c.787-8217_787-8208d others(12): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78189869 | ||||||
| chr5:78189869
|
CAAATAAA others(8): Show |
C | 13 | a0001c0001t0001g0109a0001c0001t0001g0111a0001c0002t0001g0184others(10): Show | 13 | HG01515.hp2 HG02055.hp2 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.787-8222_787-8208d others(17): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78189869 | ||||||
| chr5:78189869
|
CAAATAAA others(13): Show |
C | 13 | a0001c0001t0001g0013a0001c0001t0001g0225a0001c0001t0002g0011others(10): Show | 13 | HG01496.hp1 HG02074.hp2 HG02723.hp2 others(10): Show |
intron_variant | MODIFIER | c.787-8227_787-8208d others(22): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78189869 | ||||||
| chr5:78189869
|
CAAATAAA others(18): Show |
C | 26 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0002g0014others(23): Show | 26 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(23): Show |
intron_variant | MODIFIER | c.787-8232_787-8208d others(27): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78189869 | ||||||
| chr5:78189869
|
CAAATAAA others(23): Show |
C | 2 | a0001c0004t0002g0007a0001c0004t0002g0185 | 2 | HG00642.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.787-8237_787-8208d others(32): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78189869 | ||||||
| chr5:78189869
|
CAAATAAA others(28): Show |
C | 2 | a0001c0001t0002g0012a0001c0001t0002g0022 | 2 | NA18961.hp2 NA18988.hp1 |
intron_variant | MODIFIER | c.787-8242_787-8208d others(37): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78189869 | ||||||
| chr5:78189937
|
A | T | 1 | a0001c0001t0001g0217 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.787-8275T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78189937 | ||||||
| chr5:78189938
|
T | A | 1 | a0001c0001t0001g0217 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.787-8276A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78189938 | ||||||
| chr5:78189941
|
A | T | 1 | a0001c0001t0001g0217 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.787-8279T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78189941 | ||||||
| chr5:78189944
|
T | A | 1 | a0001c0001t0001g0217 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.787-8282A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78189944 | ||||||
| chr5:78190159
|
T | G | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.787-8497A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78190159 | ||||||
| chr5:78190253
|
T | C | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.787-8591A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78190253 | ||||||
| chr5:78190399
|
C | T | 1 | a0001c0001t0002g0011 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.787-8737G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78190399 | ||||||
| chr5:78190553
|
G | A | 1 | a0001c0004t0002g0006 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.787-8891C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78190553 | ||||||
| chr5:78190651
|
T | C | 11 | a0001c0004t0002g0185a0001c0005t0001g0195a0001c0005t0002g0004others(8): Show | 11 | HG00642.hp2 HG01168.hp1 HG02055.hp2 others(8): Show |
intron_variant | MODIFIER | c.787-8989A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78190651 | ||||||
| chr5:78190681
|
G | A | 1 | a0001c0005t0002g0187 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.787-9019C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78190681 | ||||||
| chr5:78190777
|
C | T | 55 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(52): Show | 55 | HG00408.hp1 HG00642.hp2 HG01168.hp1 others(52): Show |
intron_variant | MODIFIER | c.787-9115G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78190777 | ||||||
| chr5:78190779
|
G | C | 1 | a0001c0004t0002g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.787-9117C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78190779 | ||||||
| chr5:78191132
|
A | T | 1 | a0001c0001t0001g0084 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.787-9470T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78191132 | ||||||
| chr5:78191180
|
A | G | 1 | a0001c0002t0002g0155 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.787-9518T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78191180 | ||||||
| chr5:78191298
|
G | A | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.787-9636C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78191298 | ||||||
| chr5:78191304
|
G | A | 1 | a0001c0001t0001g0225 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.787-9642C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78191304 | ||||||
| chr5:78191354
|
C | CA | 26 | a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0104others(23): Show | 26 | HG01934.hp2 HG01981.hp2 HG02055.hp1 others(23): Show |
intron_variant | MODIFIER | c.787-9693dupT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78191354 | ||||||
| chr5:78191354
|
C | CAAAAA | 6 | a0001c0005t0002g0004a0001c0005t0002g0187a0001c0005t0002g0189others(3): Show | 6 | HG02055.hp2 HG02280.hp1 HG02630.hp2 others(3): Show |
intron_variant | MODIFIER | c.787-9697_787-9693d others(7): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78191354 | ||||||
| chr5:78191354
|
C | CAAAAAAA others(3): Show |
2 | a0001c0004t0002g0002a0001c0004t0002g0226 | 2 | HG03130.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.787-9702_787-9693d others(12): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78191354 | ||||||
| chr5:78191354
|
CA | C | 48 | a0001c0001t0001g0197a0001c0001t0001g0205a0001c0001t0001g0215others(45): Show | 48 | HG00280.hp2 HG00597.hp1 HG00597.hp2 others(45): Show |
intron_variant | MODIFIER | c.787-9693delT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78191354 | ||||||
| chr5:78191354
|
CAAAAAAA others(2): Show |
C | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.787-9701_787-9693d others(11): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78191354 | ||||||
| chr5:78191364
|
A | C | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.787-9702T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78191364 | ||||||
| chr5:78191365
|
A | C | 31 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(28): Show | 31 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(28): Show |
intron_variant | MODIFIER | c.787-9703T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78191365 | ||||||
| chr5:78191420
|
C | T | 2 | a0001c0004t0001g0077a0001c0004t0002g0007 | 2 | HG02630.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.787-9758G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78191420 | ||||||
| chr5:78191508
|
C | A | 1 | a0001c0001t0001g0108 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.787-9846G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78191508 | ||||||
| chr5:78191528
|
T | C | 1 | a0001c0006t0001g0223 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.787-9866A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78191528 | ||||||
| chr5:78191636
|
C | T | 1 | a0001c0001t0001g0101 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.787-9974G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78191636 | ||||||
| chr5:78192168
|
A | G | 33 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(30): Show | 33 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(30): Show |
intron_variant | MODIFIER | c.787-10506T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78192168 | ||||||
| chr5:78192205
|
T | C | 1 | a0001c0001t0002g0014 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.787-10543A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78192205 | ||||||
| chr5:78192277
|
G | C | 10 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(7): Show | 10 | HG01884.hp2 HG02258.hp2 HG02615.hp2 others(7): Show |
intron_variant | MODIFIER | c.787-10615C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78192277 | ||||||
| chr5:78192413
|
G | A | 2 | a0002c0003t0001g0065a0002c0003t0001g0073 | 2 | NA18990.hp1 NA19074.hp2 |
intron_variant | MODIFIER | c.787-10751C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78192413 | ||||||
| chr5:78192470
|
T | C | 55 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(52): Show | 55 | HG00408.hp1 HG00642.hp2 HG01168.hp1 others(52): Show |
intron_variant | MODIFIER | c.787-10808A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78192470 | ||||||
| chr5:78192860
|
T | C | 107 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(104): Show | 107 | HG00280.hp2 HG00408.hp1 HG00597.hp2 others(104): Show |
intron_variant | MODIFIER | c.787-11198A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78192860 | ||||||
| chr5:78192980
|
A | G | 11 | a0001c0004t0002g0185a0001c0005t0001g0195a0001c0005t0002g0004others(8): Show | 11 | HG00642.hp2 HG01168.hp1 HG02055.hp2 others(8): Show |
intron_variant | MODIFIER | c.787-11318T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78192980 | ||||||
| chr5:78193060
|
C | T | 3 | a0001c0001t0001g0075a0001c0001t0001g0082a0001c0001t0001g0126 | 3 | HG00735.hp2 HG02647.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.787-11398G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193060 | ||||||
| chr5:78193383
|
C | T | 1 | a0001c0001t0001g0225 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.787-11721G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193383 | ||||||
| chr5:78193520
|
A | G | 51 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(48): Show | 51 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(48): Show |
intron_variant | MODIFIER | c.787-11858T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193520 | ||||||
| chr5:78193634
|
C | T | 2 | a0001c0004t0002g0007a0001c0004t0002g0185 | 2 | HG00642.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.787-11972G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193634 | ||||||
| chr5:78193648
|
TCAAA | T | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.787-11990_787-1198 others(8): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193648 | ||||||
| chr5:78193732
|
GTATATAT others(7): Show |
G | 1 | a0001c0004t0002g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.787-12084_787-1207 others(18): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193732 | ||||||
| chr5:78193732
|
GTATATAT others(9): Show |
G | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.787-12086_787-1207 others(20): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193732 | ||||||
| chr5:78193734
|
A | G | 42 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(39): Show | 42 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(39): Show |
intron_variant | MODIFIER | c.787-12072T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193734 | ||||||
| chr5:78193736
|
A | G | 10 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(7): Show | 10 | HG01884.hp2 HG02258.hp2 HG02615.hp2 others(7): Show |
intron_variant | MODIFIER | c.787-12074T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193736 | ||||||
| chr5:78193738
|
A | G | 10 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(7): Show | 10 | HG01884.hp2 HG02258.hp2 HG02615.hp2 others(7): Show |
intron_variant | MODIFIER | c.787-12076T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193738 | ||||||
| chr5:78193738
|
A | T | 2 | a0001c0001t0001g0206a0001c0001t0001g0225 | 2 | HG02004.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.787-12076T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193738 | ||||||
| chr5:78193738
|
ATT | A | 11 | a0001c0001t0001g0091a0001c0001t0001g0095a0001c0001t0001g0096others(8): Show | 11 | HG01175.hp2 HG01496.hp2 HG01515.hp2 others(8): Show |
intron_variant | MODIFIER | c.787-12078_787-1207 others(6): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193738 | ||||||
| chr5:78193740
|
T | A | 33 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(30): Show | 33 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(30): Show |
intron_variant | MODIFIER | c.787-12078A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193740 | ||||||
| chr5:78193740
|
T | G | 10 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(7): Show | 10 | HG01884.hp2 HG02258.hp2 HG02615.hp2 others(7): Show |
intron_variant | MODIFIER | c.787-12078A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193740 | ||||||
| chr5:78193742
|
T | A | 89 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(86): Show | 89 | HG00280.hp2 HG00408.hp1 HG00597.hp2 others(86): Show |
intron_variant | MODIFIER | c.787-12080A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193742 | ||||||
| chr5:78193742
|
T | G | 8 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(5): Show | 8 | HG01884.hp2 HG02258.hp2 HG02615.hp2 others(5): Show |
intron_variant | MODIFIER | c.787-12080A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193742 | ||||||
| chr5:78193742
|
TTTTA | T | 5 | a0001c0001t0001g0075a0001c0001t0001g0082a0001c0001t0001g0126others(2): Show | 5 | HG00735.hp2 HG02280.hp2 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.787-12084_787-1208 others(8): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193742 | ||||||
| chr5:78193744
|
T | A | 113 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(110): Show | 113 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(110): Show |
intron_variant | MODIFIER | c.787-12082A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193744 | ||||||
| chr5:78193744
|
T | G | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.787-12082A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193744 | ||||||
| chr5:78193744
|
TTA | T | 17 | a0001c0001t0001g0037a0001c0001t0001g0076a0001c0001t0001g0104others(14): Show | 17 | HG00099.hp1 HG01106.hp2 HG01256.hp2 others(14): Show |
intron_variant | MODIFIER | c.787-12084_787-1208 others(6): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193744 | ||||||
| chr5:78193744
|
TTATA | T | 44 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0083others(41): Show | 44 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(41): Show |
intron_variant | MODIFIER | c.787-12086_787-1208 others(8): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193744 | ||||||
| chr5:78193748
|
A | G | 1 | a0001c0004t0002g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.787-12086T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193748 | ||||||
| chr5:78193750
|
A | G | 2 | a0001c0004t0002g0007a0001c0004t0002g0185 | 2 | HG00642.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.787-12088T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193750 | ||||||
| chr5:78193752
|
A | G | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.787-12090T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193752 | ||||||
| chr5:78193754
|
A | C | 4 | a0001c0001t0002g0016a0001c0001t0002g0025a0001c0001t0002g0026others(1): Show | 4 | HG02071.hp2 HG02074.hp2 NA18973.hp1 others(1): Show |
intron_variant | MODIFIER | c.787-12092T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193754 | ||||||
| chr5:78193756
|
A | C | 13 | a0001c0001t0001g0013a0001c0001t0001g0032a0001c0001t0002g0012others(10): Show | 13 | HG01993.hp1 HG02148.hp1 HG04228.hp1 others(10): Show |
intron_variant | MODIFIER | c.787-12094T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193756 | ||||||
| chr5:78193758
|
A | C | 11 | a0001c0001t0001g0029a0001c0001t0002g0014a0001c0001t0002g0019others(8): Show | 11 | HG00408.hp1 HG01346.hp1 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.787-12096T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193758 | ||||||
| chr5:78193760
|
A | C | 1 | a0001c0001t0002g0119 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.787-12098T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193760 | ||||||
| chr5:78193762
|
A | T | 1 | a0001c0004t0002g0186 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.787-12100T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193762 | ||||||
| chr5:78193764
|
A | T | 1 | a0001c0004t0002g0186 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.787-12102T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193764 | ||||||
| chr5:78193765
|
TA | T | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.787-12104delT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193765 | ||||||
| chr5:78193766
|
A | AT | 2 | a0001c0005t0001g0195a0001c0005t0002g0192 | 2 | HG02451.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.787-12105dupA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193766 | ||||||
| chr5:78193766
|
A | T | 4 | a0001c0004t0002g0002a0001c0004t0002g0003a0001c0004t0002g0185others(1): Show | 4 | HG00642.hp2 HG03453.hp1 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.787-12104T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193766 | ||||||
| chr5:78193768
|
A | ATCTATAT others(25): Show |
1 | a0001c0001t0002g0023 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.787-12107_787-1210 others(36): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193768 | ||||||
| chr5:78193768
|
A | T | 14 | a0001c0004t0001g0005a0001c0004t0002g0002a0001c0004t0002g0003others(11): Show | 14 | HG00642.hp2 HG01168.hp1 HG01884.hp2 others(11): Show |
intron_variant | MODIFIER | c.787-12106T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193768 | ||||||
| chr5:78193769
|
TA | T | 2 | a0002c0003t0001g0062a0007c0014t0002g0196 | 2 | HG02723.hp1 HG03831.hp2 |
intron_variant | MODIFIER | c.787-12108delT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193769 | ||||||
| chr5:78193770
|
A | ATATATAT others(26): Show |
1 | a0005c0015t0001g0105 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.787-12109_787-1210 others(37): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193770 | ||||||
| chr5:78193770
|
A | ATATATAT others(30): Show |
1 | a0001c0001t0002g0118 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.787-12109_787-1210 others(41): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193770 | ||||||
| chr5:78193770
|
A | ATATATAT others(32): Show |
1 | a0001c0001t0002g0021 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.787-12109_787-1210 others(43): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193770 | ||||||
| chr5:78193770
|
A | ATATATAT others(28): Show |
1 | a0001c0001t0003g0121 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.787-12109_787-1210 others(39): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193770 | ||||||
| chr5:78193770
|
A | ATATATAT others(30): Show |
2 | a0001c0001t0002g0015a0001c0001t0002g0020 | 2 | NA18979.hp1 NA19083.hp1 |
intron_variant | MODIFIER | c.787-12109_787-1210 others(41): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193770 | ||||||
| chr5:78193770
|
A | ATATATAT others(26): Show |
1 | a0001c0001t0002g0159 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.787-12109_787-1210 others(37): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193770 | ||||||
| chr5:78193770
|
A | ATATATAT others(28): Show |
4 | a0001c0001t0002g0012a0001c0001t0002g0018a0001c0001t0002g0022others(1): Show | 4 | HG01258.hp1 NA18961.hp2 NA18988.hp1 others(1): Show |
intron_variant | MODIFIER | c.787-12109_787-1210 others(39): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193770 | ||||||
| chr5:78193770
|
A | ATATATAT others(29): Show |
1 | a0002c0003t0002g0031 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.787-12109_787-1210 others(40): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193770 | ||||||
| chr5:78193770
|
A | ATATATAT others(23): Show |
1 | a0001c0001t0001g0032 | 1 | NA18978.hp1 | intron_variant | MODIFIER | c.787-12109_787-1210 others(34): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193770 | ||||||
| chr5:78193770
|
A | ATATATAT others(26): Show |
3 | a0001c0001t0002g0093a0001c0001t0002g0094a0001c0001t0002g0117 | 3 | HG01346.hp1 HG01952.hp2 HG02004.hp2 |
intron_variant | MODIFIER | c.787-12109_787-1210 others(37): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193770 | ||||||
| chr5:78193770
|
A | ATATATAT others(27): Show |
1 | a0001c0001t0002g0033 | 1 | NA18972.hp1 | intron_variant | MODIFIER | c.787-12109_787-1210 others(38): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193770 | ||||||
| chr5:78193770
|
A | ATATATAT others(24): Show |
1 | a0001c0001t0002g0016 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.787-12109_787-1210 others(35): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193770 | ||||||
| chr5:78193770
|
A | ATATATAT others(25): Show |
3 | a0001c0001t0001g0013a0001c0001t0002g0014a0001c0001t0002g0019 | 3 | HG02523.hp2 HG04228.hp1 NA18992.hp2 |
intron_variant | MODIFIER | c.787-12109_787-1210 others(36): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193770 | ||||||
| chr5:78193770
|
A | ATATATAT others(20): Show |
1 | a0001c0002t0002g0143 | 1 | NA18987.hp2 | intron_variant | MODIFIER | c.787-12109_787-1210 others(31): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193770 | ||||||
| chr5:78193770
|
A | ATATATAT others(22): Show |
1 | a0001c0010t0002g0024 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.787-12109_787-1210 others(33): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193770 | ||||||
| chr5:78193770
|
A | ATATATAT others(23): Show |
1 | a0001c0001t0002g0017 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.787-12109_787-1210 others(34): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193770 | ||||||
| chr5:78193770
|
A | ATATATAT others(20): Show |
1 | a0001c0001t0002g0025 | 1 | NA18973.hp1 | intron_variant | MODIFIER | c.787-12109_787-1210 others(31): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193770 | ||||||
| chr5:78193770
|
A | ATATATAT others(21): Show |
3 | a0001c0001t0001g0029a0001c0001t0002g0026a0001c0001t0002g0030 | 3 | HG03831.hp1 NA18995.hp1 NA19057.hp2 |
intron_variant | MODIFIER | c.787-12109_787-1210 others(32): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193770 | ||||||
| chr5:78193770
|
A | ATATATAT others(12): Show |
1 | a0001c0002t0002g0158 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.787-12109_787-1210 others(23): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193770 | ||||||
| chr5:78193770
|
A | ATATATAT others(14): Show |
1 | a0001c0002t0002g0155 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.787-12109_787-1210 others(25): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193770 | ||||||
| chr5:78193770
|
A | ATATATAT others(22): Show |
1 | a0001c0001t0002g0028 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.787-12109_787-1210 others(33): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193770 | ||||||
| chr5:78193770
|
A | ATATATAT others(13): Show |
1 | a0001c0002t0002g0175 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.787-12109_787-1210 others(24): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193770 | ||||||
| chr5:78193770
|
A | ATATATAT others(14): Show |
1 | a0001c0002t0002g0137 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.787-12109_787-1210 others(25): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193770 | ||||||
| chr5:78193770
|
A | ATATATAT others(17): Show |
1 | a0001c0001t0002g0027 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.787-12109_787-1210 others(28): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193770 | ||||||
| chr5:78193770
|
A | ATATATAT others(10): Show |
3 | a0001c0002t0001g0180a0001c0002t0001g0183a0001c0002t0002g0171 | 3 | HG00735.hp1 NA18949.hp2 NA18982.hp1 |
intron_variant | MODIFIER | c.787-12109_787-1210 others(21): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193770 | ||||||
| chr5:78193770
|
A | ATATATAT others(12): Show |
4 | a0001c0002t0002g0151a0001c0002t0002g0164a0001c0002t0002g0176others(1): Show | 4 | HG01361.hp2 HG02602.hp1 HG02738.hp1 others(1): Show |
intron_variant | MODIFIER | c.787-12109_787-1210 others(23): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193770 | ||||||
| chr5:78193770
|
A | ATATATAT others(14): Show |
1 | a0008c0011t0002g0165 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.787-12109_787-1210 others(25): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193770 | ||||||
| chr5:78193770
|
A | ATATATAT others(15): Show |
1 | a0001c0001t0002g0034 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.787-12109_787-1210 others(26): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193770 | ||||||
| chr5:78193770
|
A | ATATATAT others(16): Show |
2 | a0001c0002t0002g0154a0001c0002t0002g0160 | 2 | NA18988.hp2 NA19074.hp1 |
intron_variant | MODIFIER | c.787-12109_787-1210 others(27): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193770 | ||||||
| chr5:78193770
|
A | ATATATAT others(8): Show |
1 | a0001c0002t0002g0166 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.787-12109_787-1210 others(19): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193770 | ||||||
| chr5:78193770
|
A | ATATATAT others(10): Show |
5 | a0001c0002t0001g0181a0001c0002t0001g0184a0001c0002t0002g0150others(2): Show | 5 | HG01943.hp2 HG02015.hp2 NA18978.hp2 others(2): Show |
intron_variant | MODIFIER | c.787-12109_787-1210 others(21): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193770 | ||||||
| chr5:78193770
|
A | ATATATAT others(11): Show |
1 | a0001c0002t0002g0172 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.787-12109_787-1210 others(22): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193770 | ||||||
| chr5:78193770
|
A | ATATATAT others(12): Show |
1 | a0001c0002t0002g0146 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.787-12109_787-1210 others(23): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193770 | ||||||
| chr5:78193770
|
A | ATATATAT others(3): Show |
3 | a0003c0007t0002g0141a0003c0007t0002g0148a0006c0013t0002g0193 | 3 | HG02818.hp1 HG03516.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.787-12109_787-1210 others(14): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193770 | ||||||
| chr5:78193770
|
A | ATATATAT others(6): Show |
1 | a0001c0001t0002g0011 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.787-12109_787-1210 others(17): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193770 | ||||||
| chr5:78193770
|
A | ATATATAT others(8): Show |
14 | a0001c0002t0001g0182a0001c0002t0002g0064a0001c0002t0002g0130others(11): Show | 14 | HG00280.hp2 HG00597.hp2 HG00741.hp2 others(11): Show |
intron_variant | MODIFIER | c.787-12109_787-1210 others(19): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193770 | ||||||
| chr5:78193770
|
A | ATATATAT others(10): Show |
1 | a0001c0002t0002g0174 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.787-12109_787-1210 others(21): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193770 | ||||||
| chr5:78193770
|
A | ATATATTT others(7): Show |
1 | a0001c0004t0002g0006 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.787-12109_787-1210 others(18): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193770 | ||||||
| chr5:78193770
|
A | ATATATTT others(8): Show |
2 | a0001c0002t0001g0138a0001c0002t0001g0139 | 2 | HG00639.hp1 HG01106.hp1 |
intron_variant | MODIFIER | c.787-12109_787-1210 others(19): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193770 | ||||||
| chr5:78193770
|
A | ATATTTTT others(7): Show |
1 | a0001c0002t0002g0162 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.787-12109_787-1210 others(18): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193770 | ||||||
| chr5:78193770
|
A | ATATTTTT others(8): Show |
2 | a0001c0002t0002g0152a0001c0002t0002g0153 | 2 | HG03654.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.787-12109_787-1210 others(19): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193770 | ||||||
| chr5:78193770
|
A | T | 22 | a0001c0001t0001g0220a0001c0001t0002g0023a0001c0004t0001g0005others(19): Show | 22 | HG00280.hp1 HG00642.hp2 HG01168.hp1 others(19): Show |
intron_variant | MODIFIER | c.787-12108T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193770 | ||||||
| chr5:78193874
|
C | T | 1 | a0001c0002t0002g0146 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.787-12212G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193874 | ||||||
| chr5:78193916
|
G | A | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.787-12254C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193916 | ||||||
| chr5:78193949
|
A | C | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.787-12287T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78193949 | ||||||
| chr5:78194147
|
C | T | 1 | a0001c0001t0001g0037 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.787-12485G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78194147 | ||||||
| chr5:78194161
|
G | A | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.787-12499C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78194161 | ||||||
| chr5:78194670
|
A | G | 11 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(8): Show | 11 | HG01884.hp2 HG02258.hp2 HG02615.hp2 others(8): Show |
intron_variant | MODIFIER | c.787-13008T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78194670 | ||||||
| chr5:78194772
|
G | T | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.787-13110C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78194772 | ||||||
| chr5:78194988
|
C | T | 1 | a0001c0004t0002g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.787-13326G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78194988 | ||||||
| chr5:78195064
|
C | CA | 91 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(88): Show | 91 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(88): Show |
intron_variant | MODIFIER | c.787-13403dupT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78195064 | ||||||
| chr5:78195064
|
C | CAA | 5 | a0001c0004t0002g0006a0003c0008t0002g0035a0003c0008t0002g0036others(2): Show | 5 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(2): Show |
intron_variant | MODIFIER | c.787-13404_787-1340 others(6): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78195064 | ||||||
| chr5:78195487
|
G | A | 1 | a0001c0001t0001g0224 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.787-13825C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78195487 | ||||||
| chr5:78195546
|
G | A | 4 | a0001c0012t0001g0142a0003c0007t0002g0072a0003c0007t0002g0079others(1): Show | 4 | HG02895.hp1 HG03130.hp1 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.787-13884C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78195546 | ||||||
| chr5:78195715
|
G | C | 6 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(3): Show | 6 | HG02258.hp2 HG02615.hp2 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.787-14053C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78195715 | ||||||
| chr5:78195745
|
G | A | 1 | a0001c0001t0001g0224 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.787-14083C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78195745 | ||||||
| chr5:78195854
|
C | CA | 3 | a0001c0004t0001g0077a0001c0004t0002g0007a0001c0004t0002g0185 | 3 | HG00642.hp2 HG02630.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.787-14193dupT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78195854 | ||||||
| chr5:78195881
|
T | C | 7 | a0001c0012t0001g0142a0003c0007t0002g0072a0003c0007t0002g0079others(4): Show | 7 | HG02723.hp2 HG02818.hp1 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.787-14219A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78195881 | ||||||
| chr5:78195959
|
G | A | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.787-14297C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78195959 | ||||||
| chr5:78196286
|
T | C | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.787-14624A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78196286 | ||||||
| chr5:78196340
|
G | C | 10 | a0001c0005t0001g0195a0001c0005t0002g0004a0001c0005t0002g0187others(7): Show | 10 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(7): Show |
intron_variant | MODIFIER | c.787-14678C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78196340 | ||||||
| chr5:78196584
|
A | AT | 6 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(3): Show | 6 | HG02258.hp2 HG02615.hp2 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.787-14923dupA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78196584 | ||||||
| chr5:78196899
|
A | G | 1 | a0001c0001t0001g0106 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.787-15237T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78196899 | ||||||
| chr5:78196952
|
G | C | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.787-15290C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78196952 | ||||||
| chr5:78196976
|
G | A | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.787-15314C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78196976 | ||||||
| chr5:78197025
|
G | A | 1 | a0001c0010t0002g0024 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.787-15363C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78197025 | ||||||
| chr5:78197114
|
T | C | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.787-15452A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78197114 | ||||||
| chr5:78197190
|
T | C | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.787-15528A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78197190 | ||||||
| chr5:78197261
|
T | G | 97 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(94): Show | 97 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(94): Show |
intron_variant | MODIFIER | c.787-15599A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78197261 | ||||||
| chr5:78197284
|
GA | G | 11 | a0001c0004t0001g0005a0001c0004t0001g0077a0001c0004t0002g0001others(8): Show | 11 | HG01884.hp2 HG02258.hp2 HG02615.hp2 others(8): Show |
intron_variant | MODIFIER | c.787-15623delT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78197284 | ||||||
| chr5:78197392
|
A | G | 1 | a0001c0001t0001g0029 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.787-15730T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78197392 | ||||||
| chr5:78197754
|
A | G | 1 | a0001c0004t0002g0186 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.787-16092T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78197754 | ||||||
| chr5:78197787
|
G | A | 2 | a0001c0001t0001g0203a0001c0001t0001g0220 | 2 | HG02280.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.787-16125C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78197787 | ||||||
| chr5:78197814
|
A | G | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.787-16152T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78197814 | ||||||
| chr5:78197850
|
T | C | 1 | a0001c0004t0002g0006 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.787-16188A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78197850 | ||||||
| chr5:78198232
|
T | C | 1 | a0001c0004t0002g0006 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.787-16570A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78198232 | ||||||
| chr5:78198392
|
C | A | 54 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0083others(51): Show | 54 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(51): Show |
intron_variant | MODIFIER | c.787-16730G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78198392 | ||||||
| chr5:78198393
|
G | A | 1 | a0001c0004t0002g0186 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.787-16731C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78198393 | ||||||
| chr5:78198610
|
C | T | 1 | a0001c0010t0002g0024 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.787-16948G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78198610 | ||||||
| chr5:78198662
|
T | C | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.787-17000A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78198662 | ||||||
| chr5:78198866
|
G | T | 1 | a0001c0002t0002g0143 | 1 | NA18987.hp2 | intron_variant | MODIFIER | c.786+17189C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78198866 | ||||||
| chr5:78198915
|
C | G | 1 | a0002c0003t0001g0053 | 1 | NA19083.hp2 | intron_variant | MODIFIER | c.786+17140G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78198915 | ||||||
| chr5:78198937
|
T | C | 6 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(3): Show | 6 | HG02258.hp2 HG02615.hp2 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.786+17118A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78198937 | ||||||
| chr5:78199062
|
A | C | 1 | a0001c0001t0002g0030 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.786+16993T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78199062 | ||||||
| chr5:78199207
|
A | G | 50 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(47): Show | 50 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(47): Show |
intron_variant | MODIFIER | c.786+16848T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78199207 | ||||||
| chr5:78199711
|
G | A | 1 | a0001c0001t0001g0101 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.786+16344C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78199711 | ||||||
| chr5:78199770
|
A | G | 1 | a0001c0002t0002g0160 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.786+16285T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78199770 | ||||||
| chr5:78199990
|
A | C | 1 | a0001c0001t0002g0027 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.786+16065T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78199990 | ||||||
| chr5:78200089
|
A | C | 148 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(145): Show | 148 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(145): Show |
intron_variant | MODIFIER | c.786+15966T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78200089 | ||||||
| chr5:78200279
|
G | A | 11 | a0001c0004t0002g0185a0001c0005t0001g0195a0001c0005t0002g0004others(8): Show | 11 | HG00642.hp2 HG01168.hp1 HG02055.hp2 others(8): Show |
intron_variant | MODIFIER | c.786+15776C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78200279 | ||||||
| chr5:78200955
|
T | C | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.786+15100A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78200955 | ||||||
| chr5:78201088
|
G | C | 2 | a0003c0009t0002g0074a0003c0009t0002g0078 | 2 | HG01884.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.786+14967C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78201088 | ||||||
| chr5:78201122
|
C | T | 1 | a0009c0016t0001g0089 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.786+14933G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78201122 | ||||||
| chr5:78201130
|
T | C | 98 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(95): Show | 98 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(95): Show |
intron_variant | MODIFIER | c.786+14925A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78201130 | ||||||
| chr5:78201229
|
C | T | 8 | a0001c0001t0002g0012a0001c0001t0002g0015a0001c0001t0002g0018others(5): Show | 8 | HG00408.hp1 HG04184.hp2 NA18747.hp1 others(5): Show |
intron_variant | MODIFIER | c.786+14826G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78201229 | ||||||
| chr5:78201258
|
G | A | 148 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(145): Show | 148 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(145): Show |
intron_variant | MODIFIER | c.786+14797C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78201258 | ||||||
| chr5:78201538
|
A | G | 10 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(7): Show | 10 | HG01884.hp2 HG02258.hp2 HG02615.hp2 others(7): Show |
intron_variant | MODIFIER | c.786+14517T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78201538 | ||||||
| chr5:78201826
|
C | T | 1 | a0001c0001t0001g0111 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.786+14229G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78201826 | ||||||
| chr5:78201833
|
C | T | 9 | a0001c0005t0001g0195a0001c0005t0002g0004a0001c0005t0002g0187others(6): Show | 9 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.786+14222G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78201833 | ||||||
| chr5:78201911
|
G | A | 1 | a0001c0005t0002g0191 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.786+14144C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78201911 | ||||||
| chr5:78201953
|
C | G | 50 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(47): Show | 50 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(47): Show |
intron_variant | MODIFIER | c.786+14102G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78201953 | ||||||
| chr5:78202174
|
C | T | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.786+13881G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78202174 | ||||||
| chr5:78202219
|
G | A | 1 | a0001c0004t0002g0003 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.786+13836C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78202219 | ||||||
| chr5:78202220
|
T | C | 2 | a0001c0002t0001g0180a0001c0002t0001g0183 | 2 | NA18949.hp2 NA18982.hp1 |
intron_variant | MODIFIER | c.786+13835A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78202220 | ||||||
| chr5:78202318
|
T | C | 42 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0083others(39): Show | 42 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(39): Show |
intron_variant | MODIFIER | c.786+13737A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78202318 | ||||||
| chr5:78202457
|
A | T | 1 | a0001c0004t0002g0003 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.786+13598T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78202457 | ||||||
| chr5:78202551
|
C | CAGTGTGT others(3): Show |
2 | a0001c0004t0002g0226a0003c0008t0002g0038 | 2 | HG03130.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.786+13494_786+1350 others(14): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78202551 | ||||||
| chr5:78202552
|
A | AGT | 13 | a0001c0001t0001g0091a0001c0001t0001g0104a0001c0001t0001g0109others(10): Show | 13 | HG01256.hp2 HG01258.hp2 HG01515.hp2 others(10): Show |
intron_variant | MODIFIER | c.786+13501_786+1350 others(6): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78202552 | ||||||
| chr5:78202552
|
A | AGTGT | 55 | a0001c0001t0001g0042a0001c0001t0001g0075a0001c0001t0001g0076others(52): Show | 55 | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(52): Show |
intron_variant | MODIFIER | c.786+13499_786+1350 others(8): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78202552 | ||||||
| chr5:78202552
|
A | AGTGTGT | 10 | a0001c0002t0002g0155a0001c0002t0002g0174a0002c0003t0001g0045others(7): Show | 10 | HG01515.hp1 HG02015.hp1 HG02723.hp1 others(7): Show |
intron_variant | MODIFIER | c.786+13497_786+1350 others(10): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78202552 | ||||||
| chr5:78202552
|
A | AGTGTGTG others(1): Show |
21 | a0001c0002t0001g0139a0001c0002t0001g0180a0001c0002t0002g0131others(18): Show | 21 | HG00280.hp2 HG01070.hp1 HG01106.hp1 others(18): Show |
intron_variant | MODIFIER | c.786+13495_786+1350 others(12): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78202552 | ||||||
| chr5:78202552
|
A | AGTGTGTG others(3): Show |
14 | a0001c0002t0001g0181a0001c0002t0001g0182a0001c0002t0001g0183others(11): Show | 14 | HG00597.hp2 HG00735.hp1 HG00741.hp2 others(11): Show |
intron_variant | MODIFIER | c.786+13493_786+1350 others(14): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78202552 | ||||||
| chr5:78202552
|
A | AGTGTGTG others(5): Show |
4 | a0001c0002t0002g0154a0001c0002t0002g0156a0001c0002t0002g0162others(1): Show | 4 | HG01943.hp2 HG02738.hp1 NA18950.hp1 others(1): Show |
intron_variant | MODIFIER | c.786+13491_786+1350 others(16): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78202552 | ||||||
| chr5:78202552
|
A | AGTGTGTG others(7): Show |
3 | a0001c0002t0002g0130a0001c0002t0002g0160a0001c0002t0002g0166 | 3 | HG01175.hp1 HG04199.hp2 NA19074.hp1 |
intron_variant | MODIFIER | c.786+13489_786+1350 others(18): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78202552 | ||||||
| chr5:78202552
|
AGTGTGTG others(1): Show |
A | 38 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(35): Show | 38 | HG00408.hp1 HG01168.hp2 HG01258.hp1 others(35): Show |
intron_variant | MODIFIER | c.786+13495_786+1350 others(12): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78202552 | ||||||
| chr5:78202552
|
AGTGTGTG others(3): Show |
A | 33 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0083others(30): Show | 33 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(30): Show |
intron_variant | MODIFIER | c.786+13493_786+1350 others(14): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78202552 | ||||||
| chr5:78202552
|
AGTGTGTG others(5): Show |
A | 6 | a0001c0001t0001g0202a0001c0001t0001g0212a0001c0001t0001g0213others(3): Show | 6 | HG01934.hp2 HG01981.hp2 HG02451.hp1 others(3): Show |
intron_variant | MODIFIER | c.786+13491_786+1350 others(16): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78202552 | ||||||
| chr5:78202552
|
AGTGTGTG others(7): Show |
A | 9 | a0001c0005t0001g0195a0001c0005t0002g0004a0001c0005t0002g0187others(6): Show | 9 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.786+13489_786+1350 others(18): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78202552 | ||||||
| chr5:78202552
|
AGTGTGTG others(13): Show |
A | 1 | a0001c0004t0002g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.786+13483_786+1350 others(24): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78202552 | ||||||
| chr5:78202556
|
T | TGTGTGA | 5 | a0001c0004t0002g0001a0001c0004t0002g0003a0003c0008t0002g0035others(2): Show | 5 | HG01884.hp2 HG02615.hp2 HG03540.hp2 others(2): Show |
intron_variant | MODIFIER | c.786+13498_786+1349 others(10): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78202556 | ||||||
| chr5:78202564
|
T | A | 1 | a0001c0004t0002g0186 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.786+13491A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78202564 | ||||||
| chr5:78202962
|
C | T | 1 | a0001c0004t0002g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.786+13093G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78202962 | ||||||
| chr5:78203022
|
G | A | 97 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(94): Show | 97 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(94): Show |
intron_variant | MODIFIER | c.786+13033C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78203022 | ||||||
| chr5:78203497
|
G | C | 1 | a0001c0001t0002g0016 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.786+12558C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78203497 | ||||||
| chr5:78203525
|
G | A | 1 | a0001c0001t0001g0122 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.786+12530C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78203525 | ||||||
| chr5:78203738
|
C | T | 10 | a0001c0005t0001g0195a0001c0005t0002g0004a0001c0005t0002g0187others(7): Show | 10 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(7): Show |
intron_variant | MODIFIER | c.786+12317G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78203738 | ||||||
| chr5:78203742
|
A | G | 148 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(145): Show | 148 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(145): Show |
intron_variant | MODIFIER | c.786+12313T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78203742 | ||||||
| chr5:78203874
|
G | A | 9 | a0002c0003t0001g0044a0002c0003t0001g0052a0002c0003t0001g0053others(6): Show | 9 | HG00280.hp1 HG02074.hp1 NA18969.hp2 others(6): Show |
intron_variant | MODIFIER | c.786+12181C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78203874 | ||||||
| chr5:78203968
|
T | C | 1 | a0002c0003t0001g0090 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.786+12087A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78203968 | ||||||
| chr5:78204061
|
A | G | 1 | a0002c0003t0001g0067 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.786+11994T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78204061 | ||||||
| chr5:78204139
|
C | T | 1 | a0001c0004t0002g0186 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.786+11916G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78204139 | ||||||
| chr5:78204216
|
C | T | 3 | a0001c0001t0001g0075a0001c0001t0001g0082a0001c0001t0001g0126 | 3 | HG00735.hp2 HG02647.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.786+11839G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78204216 | ||||||
| chr5:78204292
|
A | G | 4 | a0001c0012t0001g0142a0003c0007t0002g0072a0003c0007t0002g0079others(1): Show | 4 | HG02895.hp1 HG03130.hp1 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.786+11763T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78204292 | ||||||
| chr5:78204378
|
A | C | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.786+11677T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78204378 | ||||||
| chr5:78204742
|
C | T | 1 | a0002c0003t0001g0046 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.786+11313G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78204742 | ||||||
| chr5:78204841
|
A | G | 54 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0083others(51): Show | 54 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(51): Show |
intron_variant | MODIFIER | c.786+11214T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78204841 | ||||||
| chr5:78204886
|
C | T | 1 | a0001c0004t0002g0006 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.786+11169G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78204886 | ||||||
| chr5:78205034
|
T | A | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.786+11021A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78205034 | ||||||
| chr5:78205340
|
C | G | 1 | a0001c0002t0002g0155 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.786+10715G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78205340 | ||||||
| chr5:78205442
|
T | C | 54 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0083others(51): Show | 54 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(51): Show |
intron_variant | MODIFIER | c.786+10613A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78205442 | ||||||
| chr5:78205444
|
C | T | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.786+10611G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78205444 | ||||||
| chr5:78205549
|
T | C | 97 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(94): Show | 97 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(94): Show |
intron_variant | MODIFIER | c.786+10506A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78205549 | ||||||
| chr5:78205646
|
C | T | 1 | a0001c0004t0002g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.786+10409G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78205646 | ||||||
| chr5:78205676
|
G | A | 2 | a0001c0001t0001g0008a0001c0001t0001g0009 | 2 | HG00741.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.786+10379C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78205676 | ||||||
| chr5:78205733
|
T | C | 148 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(145): Show | 148 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(145): Show |
intron_variant | MODIFIER | c.786+10322A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78205733 | ||||||
| chr5:78205860
|
A | T | 1 | a0001c0004t0002g0186 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.786+10195T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78205860 | ||||||
| chr5:78205861
|
AT | A | 148 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(145): Show | 148 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(145): Show |
intron_variant | MODIFIER | c.786+10193delA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78205861 | ||||||
| chr5:78205863
|
T | A | 1 | a0001c0001t0001g0083 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.786+10192A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78205863 | ||||||
| chr5:78205891
|
T | C | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.786+10164A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78205891 | ||||||
| chr5:78205911
|
T | G | 1 | a0001c0001t0001g0096 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.786+10144A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78205911 | ||||||
| chr5:78205991
|
A | AT | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.786+10063dupA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78205991 | ||||||
| chr5:78206029
|
G | A | 97 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(94): Show | 97 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(94): Show |
intron_variant | MODIFIER | c.786+10026C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78206029 | ||||||
| chr5:78206191
|
G | A | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.786+9864C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78206191 | ||||||
| chr5:78206237
|
T | C | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.786+9818A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78206237 | ||||||
| chr5:78206555
|
C | A | 1 | a0001c0002t0002g0132 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.786+9500G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78206555 | ||||||
| chr5:78206574
|
G | C | 1 | a0001c0005t0002g0192 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.786+9481C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78206574 | ||||||
| chr5:78206635
|
G | T | 1 | a0002c0003t0001g0067 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.786+9420C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78206635 | ||||||
| chr5:78206659
|
T | C | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.786+9396A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78206659 | ||||||
| chr5:78206813
|
T | A | 1 | a0003c0008t0002g0038 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.786+9242A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78206813 | ||||||
| chr5:78206847
|
C | T | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.786+9208G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78206847 | ||||||
| chr5:78206859
|
C | A | 1 | a0001c0002t0002g0132 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.786+9196G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78206859 | ||||||
| chr5:78206965
|
T | C | 6 | a0001c0012t0001g0142a0003c0007t0002g0072a0003c0007t0002g0079others(3): Show | 6 | HG02723.hp2 HG02818.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.786+9090A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78206965 | ||||||
| chr5:78207086
|
C | T | 1 | a0001c0005t0002g0187 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.786+8969G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78207086 | ||||||
| chr5:78207171
|
T | C | 1 | a0008c0011t0002g0165 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.786+8884A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78207171 | ||||||
| chr5:78207213
|
G | A | 1 | a0001c0001t0001g0220 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.786+8842C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78207213 | ||||||
| chr5:78207257
|
C | CA | 19 | a0001c0001t0001g0076a0001c0001t0001g0104a0001c0001t0001g0106others(16): Show | 19 | HG00099.hp1 HG01175.hp2 HG01256.hp2 others(16): Show |
intron_variant | MODIFIER | c.786+8797dupT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78207257 | ||||||
| chr5:78207257
|
CA | C | 56 | a0001c0001t0001g0127a0001c0001t0001g0225a0001c0001t0002g0016others(53): Show | 56 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(53): Show |
intron_variant | MODIFIER | c.786+8797delT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78207257 | ||||||
| chr5:78207257
|
CAA | C | 54 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0083others(51): Show | 54 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(51): Show |
intron_variant | MODIFIER | c.786+8796_786+8797d others(4): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78207257 | ||||||
| chr5:78207646
|
C | T | 54 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0083others(51): Show | 54 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(51): Show |
intron_variant | MODIFIER | c.786+8409G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78207646 | ||||||
| chr5:78207674
|
C | T | 97 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(94): Show | 97 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(94): Show |
intron_variant | MODIFIER | c.786+8381G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78207674 | ||||||
| chr5:78207710
|
G | GA | 6 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(3): Show | 6 | HG02258.hp2 HG02615.hp2 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.786+8344dupT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78207710 | ||||||
| chr5:78207815
|
G | C | 10 | a0001c0005t0001g0195a0001c0005t0002g0004a0001c0005t0002g0187others(7): Show | 10 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(7): Show |
intron_variant | MODIFIER | c.786+8240C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78207815 | ||||||
| chr5:78208136
|
T | A | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.786+7919A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78208136 | ||||||
| chr5:78208138
|
C | T | 97 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(94): Show | 97 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(94): Show |
intron_variant | MODIFIER | c.786+7917G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78208138 | ||||||
| chr5:78208603
|
T | C | 149 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(146): Show | 149 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(146): Show |
intron_variant | MODIFIER | c.786+7452A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78208603 | ||||||
| chr5:78208621
|
A | G | 54 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0083others(51): Show | 54 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(51): Show |
intron_variant | MODIFIER | c.786+7434T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78208621 | ||||||
| chr5:78208637
|
T | C | 7 | a0001c0005t0002g0004a0001c0005t0002g0187a0001c0005t0002g0189others(4): Show | 7 | HG02055.hp2 HG02280.hp1 HG02630.hp2 others(4): Show |
intron_variant | MODIFIER | c.786+7418A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78208637 | ||||||
| chr5:78208758
|
T | C | 98 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(95): Show | 98 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(95): Show |
intron_variant | MODIFIER | c.786+7297A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78208758 | ||||||
| chr5:78208937
|
A | AAT | 188 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(185): Show | 188 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(185): Show |
intron_variant | MODIFIER | c.786+7117_786+7118i others(4): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78208937 | ||||||
| chr5:78209095
|
T | TAC | 2 | a0001c0004t0002g0003a0001c0004t0002g0007 | 2 | HG02809.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.786+6958_786+6959d others(4): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78209095 | ||||||
| chr5:78209095
|
T | TACAC | 5 | a0001c0004t0002g0006a0003c0008t0002g0035a0003c0008t0002g0036others(2): Show | 5 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(2): Show |
intron_variant | MODIFIER | c.786+6956_786+6959d others(6): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78209095 | ||||||
| chr5:78209116
|
A | C | 1 | a0001c0004t0002g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.786+6939T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78209116 | ||||||
| chr5:78209128
|
T | C | 1 | a0001c0001t0001g0161 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.786+6927A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78209128 | ||||||
| chr5:78209149
|
G | A | 11 | a0001c0005t0001g0195a0001c0005t0002g0004a0001c0005t0002g0187others(8): Show | 11 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(8): Show |
intron_variant | MODIFIER | c.786+6906C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78209149 | ||||||
| chr5:78209165
|
C | T | 5 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(2): Show | 5 | HG02258.hp2 HG02615.hp2 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.786+6890G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78209165 | ||||||
| chr5:78209182
|
T | C | 50 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(47): Show | 50 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(47): Show |
intron_variant | MODIFIER | c.786+6873A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78209182 | ||||||
| chr5:78209223
|
G | A | 11 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(8): Show | 11 | HG01884.hp2 HG02258.hp2 HG02615.hp2 others(8): Show |
intron_variant | MODIFIER | c.786+6832C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78209223 | ||||||
| chr5:78209306
|
C | A | 1 | a0001c0001t0001g0225 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.786+6749G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78209306 | ||||||
| chr5:78209386
|
A | C | 5 | a0001c0004t0002g0006a0003c0008t0002g0035a0003c0008t0002g0036others(2): Show | 5 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(2): Show |
intron_variant | MODIFIER | c.786+6669T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78209386 | ||||||
| chr5:78209717
|
T | C | 31 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(28): Show | 31 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(28): Show |
intron_variant | MODIFIER | c.786+6338A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78209717 | ||||||
| chr5:78209871
|
T | G | 1 | a0001c0005t0001g0195 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.786+6184A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78209871 | ||||||
| chr5:78210052
|
C | T | 50 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(47): Show | 50 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(47): Show |
intron_variant | MODIFIER | c.786+6003G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78210052 | ||||||
| chr5:78210274
|
G | A | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.786+5781C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78210274 | ||||||
| chr5:78210375
|
G | C | 55 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0083others(52): Show | 55 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(52): Show |
intron_variant | MODIFIER | c.786+5680C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78210375 | ||||||
| chr5:78210680
|
A | C | 54 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0083others(51): Show | 54 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(51): Show |
intron_variant | MODIFIER | c.786+5375T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78210680 | ||||||
| chr5:78210850
|
G | A | 1 | a0001c0004t0002g0002 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.786+5205C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78210850 | ||||||
| chr5:78210861
|
C | T | 6 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(3): Show | 6 | HG02258.hp2 HG02615.hp2 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.786+5194G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78210861 | ||||||
| chr5:78210946
|
A | G | 54 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0083others(51): Show | 54 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(51): Show |
intron_variant | MODIFIER | c.786+5109T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78210946 | ||||||
| chr5:78211009
|
T | C | 1 | a0001c0002t0002g0155 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.786+5046A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78211009 | ||||||
| chr5:78211017
|
G | A | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.786+5038C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78211017 | ||||||
| chr5:78211132
|
C | T | 50 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(47): Show | 50 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(47): Show |
intron_variant | MODIFIER | c.786+4923G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78211132 | ||||||
| chr5:78211342
|
T | C | 1 | a0001c0001t0002g0028 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.786+4713A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78211342 | ||||||
| chr5:78211476
|
T | C | 1 | a0001c0005t0002g0191 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.786+4579A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78211476 | ||||||
| chr5:78211539
|
A | G | 1 | a0001c0005t0002g0192 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.786+4516T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78211539 | ||||||
| chr5:78211691
|
T | G | 1 | a0002c0003t0001g0218 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.786+4364A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78211691 | ||||||
| chr5:78211960
|
T | C | 3 | a0001c0001t0001g0095a0001c0001t0001g0101a0001c0001t0001g0108 | 3 | HG01496.hp2 HG01943.hp1 HG01993.hp2 |
intron_variant | MODIFIER | c.786+4095A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78211960 | ||||||
| chr5:78212049
|
G | A | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.786+4006C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78212049 | ||||||
| chr5:78212122
|
A | T | 2 | a0001c0001t0001g0198a0002c0003t0001g0219 | 2 | HG01168.hp2 HG01358.hp2 |
intron_variant | MODIFIER | c.786+3933T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78212122 | ||||||
| chr5:78212140
|
T | G | 1 | a0001c0004t0002g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.786+3915A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78212140 | ||||||
| chr5:78212144
|
G | C | 44 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0083others(41): Show | 44 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(41): Show |
intron_variant | MODIFIER | c.786+3911C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78212144 | ||||||
| chr5:78212199
|
C | G | 54 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0083others(51): Show | 54 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(51): Show |
intron_variant | MODIFIER | c.786+3856G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78212199 | ||||||
| chr5:78212259
|
T | C | 1 | a0001c0001t0001g0104 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.786+3796A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78212259 | ||||||
| chr5:78212267
|
A | C | 1 | a0001c0001t0001g0104 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.786+3788T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78212267 | ||||||
| chr5:78212268
|
C | G | 1 | a0001c0001t0001g0104 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.786+3787G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78212268 | ||||||
| chr5:78212275
|
T | C | 1 | a0001c0001t0001g0104 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.786+3780A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78212275 | ||||||
| chr5:78212276
|
A | G | 1 | a0001c0001t0001g0104 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.786+3779T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78212276 | ||||||
| chr5:78212279
|
C | T | 1 | a0001c0001t0001g0104 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.786+3776G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78212279 | ||||||
| chr5:78212280
|
C | CAAAAAAA others(29): Show |
1 | a0001c0001t0001g0104 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.786+3774_786+3775i others(38): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78212280 | ||||||
| chr5:78212287
|
G | A | 1 | a0001c0001t0001g0104 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.786+3768C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78212287 | ||||||
| chr5:78212288
|
G | A | 1 | a0001c0001t0001g0104 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.786+3767C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78212288 | ||||||
| chr5:78212293
|
C | A | 1 | a0001c0001t0001g0104 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.786+3762G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78212293 | ||||||
| chr5:78212335
|
G | A | 31 | a0001c0001t0001g0076a0001c0001t0001g0091a0001c0001t0001g0095others(28): Show | 31 | HG00099.hp1 HG00558.hp2 HG01106.hp2 others(28): Show |
intron_variant | MODIFIER | c.786+3720C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78212335 | ||||||
| chr5:78212369
|
C | T | 1 | a0002c0003t0001g0061 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.786+3686G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78212369 | ||||||
| chr5:78212457
|
G | A | 1 | a0008c0011t0002g0165 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.786+3598C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78212457 | ||||||
| chr5:78212545
|
A | T | 1 | a0001c0002t0002g0154 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.786+3510T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78212545 | ||||||
| chr5:78212594
|
G | T | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.786+3461C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78212594 | ||||||
| chr5:78212602
|
G | A | 97 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(94): Show | 97 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(94): Show |
intron_variant | MODIFIER | c.786+3453C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78212602 | ||||||
| chr5:78212978
|
T | C | 99 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(96): Show | 99 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(96): Show |
intron_variant | MODIFIER | c.786+3077A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78212978 | ||||||
| chr5:78213033
|
G | A | 1 | a0001c0001t0002g0034 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.786+3022C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78213033 | ||||||
| chr5:78213034
|
T | C | 1 | a0001c0001t0002g0034 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.786+3021A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78213034 | ||||||
| chr5:78213081
|
G | A | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.786+2974C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78213081 | ||||||
| chr5:78213100
|
T | C | 2 | a0001c0005t0001g0195a0001c0005t0002g0188 | 2 | HG01168.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.786+2955A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78213100 | ||||||
| chr5:78213158
|
C | A | 1 | a0001c0001t0002g0016 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.786+2897G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78213158 | ||||||
| chr5:78213179
|
T | G | 2 | a0003c0009t0002g0074a0003c0009t0002g0078 | 2 | HG01884.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.786+2876A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78213179 | ||||||
| chr5:78213181
|
G | A | 31 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(28): Show | 31 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(28): Show |
intron_variant | MODIFIER | c.786+2874C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78213181 | ||||||
| chr5:78213220
|
G | A | 44 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0083others(41): Show | 44 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(41): Show |
intron_variant | MODIFIER | c.786+2835C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78213220 | ||||||
| chr5:78213632
|
C | T | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.786+2423G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78213632 | ||||||
| chr5:78213674
|
C | T | 44 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0083others(41): Show | 44 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(41): Show |
intron_variant | MODIFIER | c.786+2381G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78213674 | ||||||
| chr5:78213706
|
G | C | 2 | a0001c0002t0001g0138a0001c0002t0001g0139 | 2 | HG00639.hp1 HG01106.hp1 |
intron_variant | MODIFIER | c.786+2349C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78213706 | ||||||
| chr5:78213721
|
C | T | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.786+2334G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78213721 | ||||||
| chr5:78213731
|
C | T | 2 | a0001c0001t0001g0102a0001c0001t0001g0103 | 2 | HG00099.hp2 HG00639.hp2 |
intron_variant | MODIFIER | c.786+2324G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78213731 | ||||||
| chr5:78214017
|
T | C | 1 | a0001c0001t0002g0011 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.786+2038A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78214017 | ||||||
| chr5:78214048
|
G | A | 1 | a0001c0002t0002g0174 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.786+2007C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78214048 | ||||||
| chr5:78214102
|
C | A | 1 | a0001c0001t0001g0161 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.786+1953G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78214102 | ||||||
| chr5:78214424
|
C | T | 1 | a0001c0001t0001g0206 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.786+1631G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78214424 | ||||||
| chr5:78214746
|
A | G | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.786+1309T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78214746 | ||||||
| chr5:78214816
|
G | C | 1 | a0005c0015t0001g0105 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.786+1239C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78214816 | ||||||
| chr5:78214818
|
T | C | 2 | a0001c0005t0002g0187a0001c0005t0002g0194 | 2 | HG02647.hp2 HG02886.hp1 |
intron_variant | MODIFIER | c.786+1237A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78214818 | ||||||
| chr5:78214886
|
C | T | 44 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0083others(41): Show | 44 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(41): Show |
intron_variant | MODIFIER | c.786+1169G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78214886 | ||||||
| chr5:78215170
|
T | C | 10 | a0001c0005t0001g0195a0001c0005t0002g0004a0001c0005t0002g0187others(7): Show | 10 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(7): Show |
intron_variant | MODIFIER | c.786+885A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78215170 | ||||||
| chr5:78215457
|
G | A | 1 | a0001c0004t0002g0006 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.786+598C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78215457 | ||||||
| chr5:78215538
|
T | G | 1 | a0001c0004t0002g0006 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.786+517A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78215538 | ||||||
| chr5:78215854
|
T | C | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.786+201A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | 78215854 | ||||||
| chr5:78216334
|
G | A | 54 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0083others(51): Show | 54 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(51): Show |
intron_variant | MODIFIER | c.604-97C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78216334 | ||||||
| chr5:78216405
|
C | T | 43 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0083others(40): Show | 43 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(40): Show |
intron_variant | MODIFIER | c.604-168G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78216405 | ||||||
| chr5:78216537
|
G | A | 4 | a0002c0003t0001g0052a0002c0003t0001g0053a0002c0003t0001g0054others(1): Show | 4 | HG02074.hp1 NA18998.hp1 NA19070.hp2 others(1): Show |
intron_variant | MODIFIER | c.604-300C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78216537 | ||||||
| chr5:78216658
|
GAAC | G | 2 | a0001c0001t0001g0144a0001c0001t0001g0145 | 2 | HG02109.hp2 HG02895.hp2 |
intron_variant | MODIFIER | c.604-424_604-422del others(3): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78216658 | ||||||
| chr5:78216661
|
C | G | 52 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0083others(49): Show | 52 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(49): Show |
intron_variant | MODIFIER | c.604-424G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78216661 | ||||||
| chr5:78216744
|
T | C | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.604-507A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78216744 | ||||||
| chr5:78216754
|
T | C | 1 | a0002c0003t0001g0069 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.604-517A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78216754 | ||||||
| chr5:78216899
|
A | G | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.604-662T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78216899 | ||||||
| chr5:78217173
|
T | C | 1 | a0001c0004t0002g0003 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.604-936A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78217173 | ||||||
| chr5:78217250
|
G | A | 1 | a0001c0001t0001g0029 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.604-1013C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78217250 | ||||||
| chr5:78217339
|
T | C | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.604-1102A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78217339 | ||||||
| chr5:78217349
|
G | A | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.604-1112C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78217349 | ||||||
| chr5:78217383
|
G | A | 1 | a0001c0001t0002g0112 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.604-1146C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78217383 | ||||||
| chr5:78217413
|
A | C | 98 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(95): Show | 98 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(95): Show |
intron_variant | MODIFIER | c.604-1176T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78217413 | ||||||
| chr5:78217864
|
A | G | 44 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(41): Show | 44 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(41): Show |
intron_variant | MODIFIER | c.604-1627T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78217864 | ||||||
| chr5:78217991
|
G | T | 2 | a0001c0001t0001g0208a0001c0001t0001g0222 | 2 | NA18950.hp2 NA18952.hp2 |
intron_variant | MODIFIER | c.604-1754C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78217991 | ||||||
| chr5:78218114
|
T | C | 5 | a0001c0004t0002g0006a0003c0008t0002g0035a0003c0008t0002g0036others(2): Show | 5 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(2): Show |
intron_variant | MODIFIER | c.604-1877A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78218114 | ||||||
| chr5:78218153
|
T | C | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.604-1916A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78218153 | ||||||
| chr5:78218256
|
A | G | 11 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(8): Show | 11 | HG01884.hp2 HG02258.hp2 HG02615.hp2 others(8): Show |
intron_variant | MODIFIER | c.604-2019T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78218256 | ||||||
| chr5:78218349
|
C | A | 147 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(144): Show | 147 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(144): Show |
intron_variant | MODIFIER | c.604-2112G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78218349 | ||||||
| chr5:78218419
|
A | G | 5 | a0001c0001t0001g0197a0001c0001t0001g0215a0001c0001t0001g0216others(2): Show | 5 | HG00558.hp1 HG02071.hp1 HG02523.hp1 others(2): Show |
intron_variant | MODIFIER | c.604-2182T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78218419 | ||||||
| chr5:78219232
|
C | A | 63 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(60): Show | 63 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(60): Show |
intron_variant | MODIFIER | c.604-2995G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78219232 | ||||||
| chr5:78219497
|
T | A | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.604-3260A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78219497 | ||||||
| chr5:78219913
|
A | G | 40 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0083others(37): Show | 40 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(37): Show |
intron_variant | MODIFIER | c.604-3676T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78219913 | ||||||
| chr5:78219961
|
T | C | 1 | a0001c0001t0001g0197 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.604-3724A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78219961 | ||||||
| chr5:78220029
|
C | T | 2 | a0001c0001t0001g0208a0001c0001t0001g0222 | 2 | NA18950.hp2 NA18952.hp2 |
intron_variant | MODIFIER | c.604-3792G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78220029 | ||||||
| chr5:78220090
|
T | C | 1 | a0001c0002t0002g0178 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.604-3853A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78220090 | ||||||
| chr5:78220358
|
T | C | 1 | a0001c0004t0002g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.604-4121A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78220358 | ||||||
| chr5:78220695
|
TA | T | 12 | a0001c0004t0001g0005a0001c0004t0001g0077a0001c0004t0002g0001others(9): Show | 12 | HG01070.hp2 HG01884.hp2 HG02258.hp2 others(9): Show |
intron_variant | MODIFIER | c.604-4459delT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78220695 | ||||||
| chr5:78220787
|
C | T | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.604-4550G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78220787 | ||||||
| chr5:78220926
|
A | G | 3 | a0001c0001t0001g0075a0001c0001t0001g0082a0001c0001t0001g0126 | 3 | HG00735.hp2 HG02647.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.603+4616T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78220926 | ||||||
| chr5:78221536
|
G | A | 1 | a0001c0004t0002g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.603+4006C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78221536 | ||||||
| chr5:78221538
|
T | C | 148 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(145): Show | 148 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(145): Show |
intron_variant | MODIFIER | c.603+4004A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78221538 | ||||||
| chr5:78221566
|
C | T | 5 | a0001c0001t0002g0093a0001c0001t0002g0094a0001c0001t0002g0117others(2): Show | 5 | HG01258.hp1 HG01346.hp1 HG01934.hp1 others(2): Show |
intron_variant | MODIFIER | c.603+3976G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78221566 | ||||||
| chr5:78221815
|
C | G | 44 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0083others(41): Show | 44 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(41): Show |
intron_variant | MODIFIER | c.603+3727G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78221815 | ||||||
| chr5:78221943
|
C | T | 1 | a0001c0001t0002g0034 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.603+3599G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78221943 | ||||||
| chr5:78222126
|
A | C | 50 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(47): Show | 50 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(47): Show |
intron_variant | MODIFIER | c.603+3416T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78222126 | ||||||
| chr5:78222203
|
G | C | 86 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(83): Show | 86 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(83): Show |
intron_variant | MODIFIER | c.603+3339C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78222203 | ||||||
| chr5:78222264
|
G | A | 5 | a0001c0004t0002g0006a0003c0008t0002g0035a0003c0008t0002g0036others(2): Show | 5 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(2): Show |
intron_variant | MODIFIER | c.603+3278C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78222264 | ||||||
| chr5:78222344
|
A | G | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.603+3198T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78222344 | ||||||
| chr5:78222361
|
G | A | 1 | a0002c0003t0001g0080 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.603+3181C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78222361 | ||||||
| chr5:78222388
|
A | C | 1 | a0001c0004t0002g0006 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.603+3154T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78222388 | ||||||
| chr5:78222407
|
A | G | 1 | a0001c0001t0001g0110 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.603+3135T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78222407 | ||||||
| chr5:78222545
|
A | G | 1 | a0001c0001t0001g0083 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.603+2997T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78222545 | ||||||
| chr5:78222775
|
T | C | 2 | a0001c0002t0002g0176a0001c0002t0002g0179 | 2 | HG02602.hp1 HG02738.hp1 |
intron_variant | MODIFIER | c.603+2767A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78222775 | ||||||
| chr5:78222802
|
C | T | 1 | a0001c0005t0002g0188 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.603+2740G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78222802 | ||||||
| chr5:78222842
|
A | G | 11 | a0001c0004t0001g0005a0001c0004t0001g0077a0001c0004t0002g0001others(8): Show | 11 | HG01884.hp2 HG02258.hp2 HG02615.hp2 others(8): Show |
intron_variant | MODIFIER | c.603+2700T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78222842 | ||||||
| chr5:78222991
|
G | A | 10 | a0001c0005t0001g0195a0001c0005t0002g0004a0001c0005t0002g0187others(7): Show | 10 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(7): Show |
intron_variant | MODIFIER | c.603+2551C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78222991 | ||||||
| chr5:78222994
|
C | T | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.603+2548G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78222994 | ||||||
| chr5:78223027
|
C | CT | 11 | a0001c0004t0001g0005a0001c0004t0001g0077a0001c0004t0002g0001others(8): Show | 11 | HG01884.hp2 HG02258.hp2 HG02615.hp2 others(8): Show |
intron_variant | MODIFIER | c.603+2514dupA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78223027 | ||||||
| chr5:78223027
|
C | CTCTTTTT others(6): Show |
1 | a0001c0001t0002g0019 | 1 | NA18992.hp2 | intron_variant | MODIFIER | c.603+2514_603+2515i others(15): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78223027 | ||||||
| chr5:78223027
|
C | CTCTTTTT others(7): Show |
37 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0002g0011others(34): Show | 37 | HG00408.hp1 HG01168.hp1 HG01258.hp1 others(34): Show |
intron_variant | MODIFIER | c.603+2514_603+2515i others(16): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78223027 | ||||||
| chr5:78223027
|
C | CTCTTTTT others(8): Show |
45 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(42): Show | 45 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(42): Show |
intron_variant | MODIFIER | c.603+2514_603+2515i others(17): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78223027 | ||||||
| chr5:78223027
|
C | CTCTTTTT others(9): Show |
3 | a0001c0001t0001g0084a0002c0003t0001g0218a0002c0003t0001g0219 | 3 | HG01358.hp2 HG02071.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.603+2514_603+2515i others(18): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78223027 | ||||||
| chr5:78223027
|
C | G | 4 | a0001c0002t0002g0150a0001c0002t0002g0151a0001c0002t0002g0170others(1): Show | 4 | NA18947.hp1 NA18990.hp2 NA18992.hp1 others(1): Show |
intron_variant | MODIFIER | c.603+2515G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78223027 | ||||||
| chr5:78223031
|
T | G | 1 | a0001c0002t0002g0151 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.603+2511A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78223031 | ||||||
| chr5:78223090
|
A | G | 190 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(187): Show | 190 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(187): Show |
intron_variant | MODIFIER | c.603+2452T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78223090 | ||||||
| chr5:78223105
|
C | T | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.603+2437G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78223105 | ||||||
| chr5:78223153
|
C | T | 10 | a0001c0005t0001g0195a0001c0005t0002g0004a0001c0005t0002g0187others(7): Show | 10 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(7): Show |
intron_variant | MODIFIER | c.603+2389G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78223153 | ||||||
| chr5:78223154
|
G | C | 149 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(146): Show | 149 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(146): Show |
intron_variant | MODIFIER | c.603+2388C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78223154 | ||||||
| chr5:78223169
|
T | C | 7 | a0001c0002t0002g0132a0001c0002t0002g0133a0001c0002t0002g0134others(4): Show | 7 | NA18956.hp2 NA18964.hp1 NA18969.hp1 others(4): Show |
intron_variant | MODIFIER | c.603+2373A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78223169 | ||||||
| chr5:78223235
|
T | C | 3 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0002g0174 | 3 | HG00639.hp1 HG01106.hp1 HG01515.hp1 |
intron_variant | MODIFIER | c.603+2307A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78223235 | ||||||
| chr5:78223500
|
AAC | A | 86 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(83): Show | 86 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(83): Show |
intron_variant | MODIFIER | c.603+2040_603+2041d others(4): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78223500 | ||||||
| chr5:78223684
|
G | A | 86 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(83): Show | 86 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(83): Show |
intron_variant | MODIFIER | c.603+1858C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78223684 | ||||||
| chr5:78223688
|
G | T | 50 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(47): Show | 50 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(47): Show |
intron_variant | MODIFIER | c.603+1854C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78223688 | ||||||
| chr5:78223810
|
C | T | 96 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(93): Show | 96 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(93): Show |
intron_variant | MODIFIER | c.603+1732G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78223810 | ||||||
| chr5:78223962
|
G | C | 1 | a0001c0001t0001g0204 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.603+1580C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78223962 | ||||||
| chr5:78224177
|
C | A | 1 | a0001c0005t0001g0195 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.603+1365G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78224177 | ||||||
| chr5:78224360
|
T | G | 1 | a0001c0001t0001g0201 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.603+1182A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78224360 | ||||||
| chr5:78224378
|
A | G | 12 | a0001c0004t0001g0005a0001c0004t0001g0077a0001c0004t0002g0001others(9): Show | 12 | HG01884.hp2 HG02258.hp2 HG02615.hp2 others(9): Show |
intron_variant | MODIFIER | c.603+1164T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78224378 | ||||||
| chr5:78224412
|
T | C | 50 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(47): Show | 50 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(47): Show |
intron_variant | MODIFIER | c.603+1130A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78224412 | ||||||
| chr5:78224604
|
A | G | 1 | a0001c0001t0001g0076 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.603+938T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78224604 | ||||||
| chr5:78224898
|
T | G | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.603+644A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78224898 | ||||||
| chr5:78225228
|
T | C | 44 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(41): Show | 44 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(41): Show |
intron_variant | MODIFIER | c.603+314A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78225228 | ||||||
| chr5:78225436
|
C | G | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.603+106G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78225436 | ||||||
| chr5:78225446
|
A | G | 1 | a0001c0004t0002g0226 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.603+96T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 6/26 | chr5 | 78225446 | ||||||
| chr5:78225882
|
A | G | 6 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(3): Show | 6 | HG02258.hp2 HG02615.hp2 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.537-274T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 5/26 | chr5 | 78225882 | ||||||
| chr5:78225987
|
C | G | 86 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(83): Show | 86 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(83): Show |
intron_variant | MODIFIER | c.537-379G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 5/26 | chr5 | 78225987 | ||||||
| chr5:78226035
|
T | C | 3 | a0001c0001t0001g0075a0001c0001t0001g0082a0001c0001t0001g0126 | 3 | HG00735.hp2 HG02647.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.537-427A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 5/26 | chr5 | 78226035 | ||||||
| chr5:78226083
|
G | A | 86 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(83): Show | 86 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(83): Show |
intron_variant | MODIFIER | c.537-475C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 5/26 | chr5 | 78226083 | ||||||
| chr5:78226175
|
T | A | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.537-567A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 5/26 | chr5 | 78226175 | ||||||
| chr5:78226213
|
G | A | 86 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(83): Show | 86 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(83): Show |
intron_variant | MODIFIER | c.537-605C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 5/26 | chr5 | 78226213 | ||||||
| chr5:78226233
|
T | C | 7 | a0001c0005t0002g0004a0001c0005t0002g0187a0001c0005t0002g0189others(4): Show | 7 | HG02055.hp2 HG02280.hp1 HG02630.hp2 others(4): Show |
intron_variant | MODIFIER | c.537-625A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 5/26 | chr5 | 78226233 | ||||||
| chr5:78226463
|
G | A | 1 | a0001c0001t0001g0084 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.537-855C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 5/26 | chr5 | 78226463 | ||||||
| chr5:78226533
|
T | C | 6 | a0001c0004t0001g0077a0001c0004t0002g0006a0003c0008t0002g0035others(3): Show | 6 | HG01884.hp2 HG02630.hp1 NA18522.hp2 others(3): Show |
intron_variant | MODIFIER | c.536+839A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 5/26 | chr5 | 78226533 | ||||||
| chr5:78226768
|
G | A | 86 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(83): Show | 86 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(83): Show |
intron_variant | MODIFIER | c.536+604C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 5/26 | chr5 | 78226768 | ||||||
| chr5:78226796
|
T | A | 1 | a0001c0004t0002g0186 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.536+576A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 5/26 | chr5 | 78226796 | ||||||
| chr5:78226945
|
C | G | 86 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(83): Show | 86 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(83): Show |
intron_variant | MODIFIER | c.536+427G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 5/26 | chr5 | 78226945 | ||||||
| chr5:78226984
|
G | C | 86 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(83): Show | 86 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(83): Show |
intron_variant | MODIFIER | c.536+388C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 5/26 | chr5 | 78226984 | ||||||
| chr5:78227027
|
GA | G | 6 | a0001c0012t0001g0142a0003c0007t0002g0072a0003c0007t0002g0079others(3): Show | 6 | HG02723.hp2 HG02818.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.536+344delT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 5/26 | chr5 | 78227027 | ||||||
| chr5:78227055
|
A | G | 2 | a0001c0004t0002g0002a0001c0004t0002g0003 | 2 | HG03453.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.536+317T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 5/26 | chr5 | 78227055 | ||||||
| chr5:78227115
|
T | G | 1 | a0001c0001t0001g0215 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.536+257A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 5/26 | chr5 | 78227115 | ||||||
| chr5:78227268
|
G | A | 86 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(83): Show | 86 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(83): Show |
intron_variant | MODIFIER | c.536+104C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 5/26 | chr5 | 78227268 | ||||||
| chr5:78227849
|
A | C | 1 | a0001c0004t0002g0006 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.375+295T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 4/26 | chr5 | 78227849 | ||||||
| chr5:78227952
|
CAT | C | 10 | a0001c0005t0001g0195a0001c0005t0002g0004a0001c0005t0002g0187others(7): Show | 10 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(7): Show |
intron_variant | MODIFIER | c.375+190_375+191del others(2): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 4/26 | chr5 | 78227952 | ||||||
| chr5:78228066
|
C | G | 1 | a0001c0006t0001g0120 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.375+78G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 4/26 | chr5 | 78228066 | ||||||
| chr5:78228133
|
C | T | 1 | a0001c0004t0002g0006 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.375+11G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 4/26 | chr5 | 78228133 | ||||||
| chr5:78228244
|
T | TA | 86 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(83): Show | 86 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(83): Show |
splice_region_variant&intron_variant | LOW | c.280-6dupT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78228244 | ||||||
| chr5:78228267
|
A | G | 86 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(83): Show | 86 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(83): Show |
intron_variant | MODIFIER | c.280-28T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78228267 | ||||||
| chr5:78228274
|
T | C | 1 | a0001c0005t0002g0189 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.280-35A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78228274 | ||||||
| chr5:78228370
|
A | C | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.280-131T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78228370 | ||||||
| chr5:78228442
|
A | C | 6 | a0001c0004t0001g0077a0001c0004t0002g0006a0003c0008t0002g0035others(3): Show | 6 | HG01884.hp2 HG02630.hp1 NA18522.hp2 others(3): Show |
intron_variant | MODIFIER | c.280-203T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78228442 | ||||||
| chr5:78228683
|
T | C | 1 | a0001c0004t0002g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.280-444A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78228683 | ||||||
| chr5:78228704
|
G | A | 1 | a0001c0001t0001g0205 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.280-465C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78228704 | ||||||
| chr5:78228705
|
A | T | 1 | a0001c0001t0001g0205 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.280-466T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78228705 | ||||||
| chr5:78228820
|
C | T | 86 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(83): Show | 86 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(83): Show |
intron_variant | MODIFIER | c.280-581G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78228820 | ||||||
| chr5:78228923
|
G | GT | 10 | a0001c0005t0001g0195a0001c0005t0002g0004a0001c0005t0002g0187others(7): Show | 10 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(7): Show |
intron_variant | MODIFIER | c.280-685dupA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78228923 | ||||||
| chr5:78228993
|
C | A | 1 | a0001c0004t0002g0186 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.280-754G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78228993 | ||||||
| chr5:78229002
|
G | A | 1 | a0001c0004t0002g0226 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.280-763C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78229002 | ||||||
| chr5:78229014
|
C | A | 1 | a0002c0003t0001g0057 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.280-775G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78229014 | ||||||
| chr5:78229421
|
A | G | 98 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(95): Show | 98 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(95): Show |
intron_variant | MODIFIER | c.280-1182T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78229421 | ||||||
| chr5:78229481
|
C | T | 5 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(2): Show | 5 | HG02258.hp2 HG02615.hp2 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.280-1242G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78229481 | ||||||
| chr5:78229570
|
T | TAAAAAA | 28 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0002g0011others(25): Show | 28 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(25): Show |
intron_variant | MODIFIER | c.280-1332_280-1331i others(8): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78229570 | ||||||
| chr5:78229570
|
T | TAAAAAAA others(2): Show |
9 | a0001c0005t0001g0195a0001c0005t0002g0187a0001c0005t0002g0188others(6): Show | 9 | HG01168.hp1 HG02280.hp1 HG02451.hp1 others(6): Show |
intron_variant | MODIFIER | c.280-1332_280-1331i others(11): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78229570 | ||||||
| chr5:78229570
|
T | TAAAAAAA others(3): Show |
1 | a0001c0005t0002g0004 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.280-1332_280-1331i others(12): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78229570 | ||||||
| chr5:78229575
|
C | A | 48 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(45): Show | 48 | HG00408.hp1 HG01168.hp1 HG01258.hp1 others(45): Show |
intron_variant | MODIFIER | c.280-1336G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78229575 | ||||||
| chr5:78229575
|
C | CA | 5 | a0001c0001t0001g0037a0001c0001t0001g0161a0001c0001t0001g0173others(2): Show | 5 | HG02809.hp1 HG03139.hp2 HG03471.hp1 others(2): Show |
intron_variant | MODIFIER | c.280-1337dupT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78229575 | ||||||
| chr5:78229575
|
C | CAAAAAAA others(1): Show |
38 | a0001c0001t0001g0008a0001c0001t0001g0083a0001c0001t0001g0084others(35): Show | 38 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(35): Show |
intron_variant | MODIFIER | c.280-1344_280-1337d others(10): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78229575 | ||||||
| chr5:78229612
|
A | G | 98 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(95): Show | 98 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(95): Show |
intron_variant | MODIFIER | c.280-1373T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78229612 | ||||||
| chr5:78229651
|
G | A | 1 | a0001c0004t0002g0006 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.280-1412C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78229651 | ||||||
| chr5:78229734
|
T | C | 1 | a0001c0001t0002g0028 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.280-1495A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78229734 | ||||||
| chr5:78229748
|
A | T | 86 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(83): Show | 86 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(83): Show |
intron_variant | MODIFIER | c.280-1509T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78229748 | ||||||
| chr5:78229872
|
C | T | 1 | a0001c0006t0001g0120 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.280-1633G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78229872 | ||||||
| chr5:78229971
|
T | C | 44 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0083others(41): Show | 44 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(41): Show |
intron_variant | MODIFIER | c.280-1732A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78229971 | ||||||
| chr5:78230018
|
G | A | 2 | a0001c0001t0001g0109a0001c0001t0002g0011 | 2 | HG01496.hp1 HG01515.hp2 |
intron_variant | MODIFIER | c.280-1779C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78230018 | ||||||
| chr5:78230120
|
C | G | 1 | a0003c0007t0002g0141 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.280-1881G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78230120 | ||||||
| chr5:78230160
|
C | T | 86 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(83): Show | 86 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(83): Show |
intron_variant | MODIFIER | c.280-1921G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78230160 | ||||||
| chr5:78230173
|
C | T | 86 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(83): Show | 86 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(83): Show |
intron_variant | MODIFIER | c.280-1934G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78230173 | ||||||
| chr5:78230185
|
A | T | 2 | a0002c0003t0001g0065a0002c0003t0001g0073 | 2 | NA18990.hp1 NA19074.hp2 |
intron_variant | MODIFIER | c.280-1946T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78230185 | ||||||
| chr5:78230350
|
C | T | 1 | a0001c0001t0001g0091 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.280-2111G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78230350 | ||||||
| chr5:78230371
|
A | G | 86 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(83): Show | 86 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(83): Show |
intron_variant | MODIFIER | c.280-2132T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78230371 | ||||||
| chr5:78230415
|
C | CCATT | 86 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(83): Show | 86 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(83): Show |
intron_variant | MODIFIER | c.280-2177_280-2176i others(6): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78230415 | ||||||
| chr5:78230656
|
ACCAAGTT others(8): Show |
A | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.280-2432_280-2418d others(17): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78230656 | ||||||
| chr5:78230879
|
A | C | 86 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(83): Show | 86 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(83): Show |
intron_variant | MODIFIER | c.280-2640T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78230879 | ||||||
| chr5:78230997
|
G | A | 1 | a0001c0001t0001g0161 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.280-2758C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78230997 | ||||||
| chr5:78231027
|
A | G | 86 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(83): Show | 86 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(83): Show |
intron_variant | MODIFIER | c.280-2788T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78231027 | ||||||
| chr5:78231192
|
G | A | 1 | a0001c0001t0001g0225 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.280-2953C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78231192 | ||||||
| chr5:78231204
|
C | T | 86 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(83): Show | 86 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(83): Show |
intron_variant | MODIFIER | c.280-2965G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78231204 | ||||||
| chr5:78231240
|
C | T | 1 | a0001c0001t0001g0221 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.280-3001G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78231240 | ||||||
| chr5:78231259
|
C | T | 3 | a0002c0003t0001g0053a0002c0003t0001g0054a0002c0003t0001g0086 | 3 | HG02074.hp1 NA19070.hp2 NA19083.hp2 |
intron_variant | MODIFIER | c.280-3020G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78231259 | ||||||
| chr5:78231321
|
G | A | 1 | a0001c0001t0002g0011 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.280-3082C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78231321 | ||||||
| chr5:78231330
|
C | T | 5 | a0001c0004t0001g0077a0003c0008t0002g0035a0003c0008t0002g0036others(2): Show | 5 | HG01884.hp2 HG02630.hp1 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.280-3091G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78231330 | ||||||
| chr5:78231398
|
A | T | 96 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(93): Show | 96 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(93): Show |
intron_variant | MODIFIER | c.280-3159T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78231398 | ||||||
| chr5:78231464
|
A | G | 86 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(83): Show | 86 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(83): Show |
intron_variant | MODIFIER | c.280-3225T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78231464 | ||||||
| chr5:78231581
|
C | T | 1 | a0001c0001t0002g0017 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.280-3342G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78231581 | ||||||
| chr5:78231789
|
C | T | 10 | a0001c0005t0001g0195a0001c0005t0002g0004a0001c0005t0002g0187others(7): Show | 10 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(7): Show |
intron_variant | MODIFIER | c.280-3550G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78231789 | ||||||
| chr5:78231859
|
C | T | 44 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0083others(41): Show | 44 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(41): Show |
intron_variant | MODIFIER | c.280-3620G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78231859 | ||||||
| chr5:78231969
|
A | C | 10 | a0001c0004t0001g0005a0001c0004t0001g0077a0001c0004t0002g0001others(7): Show | 10 | HG01884.hp2 HG02258.hp2 HG02615.hp2 others(7): Show |
intron_variant | MODIFIER | c.280-3730T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78231969 | ||||||
| chr5:78232095
|
A | T | 1 | a0001c0006t0001g0040 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.280-3856T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78232095 | ||||||
| chr5:78232109
|
C | T | 1 | a0001c0005t0002g0191 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.280-3870G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78232109 | ||||||
| chr5:78232305
|
T | G | 10 | a0001c0005t0001g0195a0001c0005t0002g0004a0001c0005t0002g0187others(7): Show | 10 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(7): Show |
intron_variant | MODIFIER | c.280-4066A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78232305 | ||||||
| chr5:78232389
|
C | T | 1 | a0001c0004t0002g0186 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.280-4150G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78232389 | ||||||
| chr5:78232453
|
T | C | 86 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(83): Show | 86 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(83): Show |
intron_variant | MODIFIER | c.280-4214A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78232453 | ||||||
| chr5:78232468
|
T | C | 86 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(83): Show | 86 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(83): Show |
intron_variant | MODIFIER | c.280-4229A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78232468 | ||||||
| chr5:78232719
|
T | C | 44 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0083others(41): Show | 44 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(41): Show |
intron_variant | MODIFIER | c.280-4480A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78232719 | ||||||
| chr5:78232775
|
C | T | 1 | a0002c0003t0001g0066 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.280-4536G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78232775 | ||||||
| chr5:78232863
|
C | T | 5 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(2): Show | 5 | HG02258.hp2 HG02615.hp2 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.280-4624G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78232863 | ||||||
| chr5:78232864
|
G | A | 1 | a0001c0001t0002g0016 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.280-4625C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78232864 | ||||||
| chr5:78232886
|
T | C | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.280-4647A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78232886 | ||||||
| chr5:78232972
|
G | A | 1 | a0002c0003t0001g0067 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.280-4733C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78232972 | ||||||
| chr5:78232986
|
C | T | 8 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0144others(5): Show | 8 | HG00741.hp1 HG02109.hp2 HG02615.hp1 others(5): Show |
intron_variant | MODIFIER | c.280-4747G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78232986 | ||||||
| chr5:78233023
|
T | C | 43 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0083others(40): Show | 43 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(40): Show |
intron_variant | MODIFIER | c.280-4784A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78233023 | ||||||
| chr5:78233123
|
T | A | 1 | a0002c0003t0001g0100 | 1 | NA18987.hp1 | intron_variant | MODIFIER | c.280-4884A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78233123 | ||||||
| chr5:78233237
|
C | CT | 42 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(39): Show | 42 | HG00408.hp1 HG01168.hp1 HG01258.hp1 others(39): Show |
intron_variant | MODIFIER | c.280-4999dupA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78233237 | ||||||
| chr5:78233237
|
C | CTT | 44 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0083others(41): Show | 44 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(41): Show |
intron_variant | MODIFIER | c.280-5000_280-4999d others(4): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78233237 | ||||||
| chr5:78233278
|
G | A | 1 | a0002c0003t0001g0090 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.280-5039C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78233278 | ||||||
| chr5:78233295
|
A | G | 98 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(95): Show | 98 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(95): Show |
intron_variant | MODIFIER | c.280-5056T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78233295 | ||||||
| chr5:78233320
|
G | A | 44 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(41): Show | 44 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(41): Show |
intron_variant | MODIFIER | c.280-5081C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78233320 | ||||||
| chr5:78233350
|
C | G | 50 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(47): Show | 50 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(47): Show |
intron_variant | MODIFIER | c.280-5111G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78233350 | ||||||
| chr5:78233384
|
C | A | 10 | a0001c0005t0001g0195a0001c0005t0002g0004a0001c0005t0002g0187others(7): Show | 10 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(7): Show |
intron_variant | MODIFIER | c.280-5145G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78233384 | ||||||
| chr5:78233413
|
T | G | 11 | a0001c0004t0001g0005a0001c0004t0001g0077a0001c0004t0002g0001others(8): Show | 11 | HG01884.hp2 HG02258.hp2 HG02615.hp2 others(8): Show |
intron_variant | MODIFIER | c.280-5174A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78233413 | ||||||
| chr5:78233478
|
G | A | 50 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(47): Show | 50 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(47): Show |
intron_variant | MODIFIER | c.280-5239C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78233478 | ||||||
| chr5:78233722
|
A | G | 6 | a0001c0012t0001g0142a0003c0007t0002g0072a0003c0007t0002g0079others(3): Show | 6 | HG02723.hp2 HG02818.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.280-5483T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78233722 | ||||||
| chr5:78233836
|
CAG | C | 76 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(73): Show | 76 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(73): Show |
intron_variant | MODIFIER | c.280-5599_280-5598d others(4): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78233836 | ||||||
| chr5:78233837
|
AGG | A | 10 | a0001c0005t0001g0195a0001c0005t0002g0004a0001c0005t0002g0187others(7): Show | 10 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(7): Show |
intron_variant | MODIFIER | c.280-5600_280-5599d others(4): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78233837 | ||||||
| chr5:78233885
|
G | A | 5 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(2): Show | 5 | HG02258.hp2 HG02615.hp2 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.280-5646C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78233885 | ||||||
| chr5:78234306
|
T | C | 3 | a0001c0001t0002g0025a0001c0001t0002g0026a0001c0001t0002g0027 | 3 | NA18973.hp1 NA18998.hp2 NA19057.hp2 |
intron_variant | MODIFIER | c.280-6067A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78234306 | ||||||
| chr5:78234329
|
G | T | 9 | a0001c0002t0002g0130a0001c0002t0002g0131a0001c0002t0002g0156others(6): Show | 9 | HG00735.hp1 HG01175.hp1 HG01361.hp2 others(6): Show |
intron_variant | MODIFIER | c.280-6090C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78234329 | ||||||
| chr5:78234426
|
G | C | 1 | a0001c0004t0002g0186 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.280-6187C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78234426 | ||||||
| chr5:78234431
|
G | A | 1 | a0002c0003t0002g0031 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.280-6192C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78234431 | ||||||
| chr5:78234456
|
T | A | 1 | a0001c0001t0001g0082 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.280-6217A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78234456 | ||||||
| chr5:78234482
|
G | C | 50 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(47): Show | 50 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(47): Show |
intron_variant | MODIFIER | c.280-6243C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78234482 | ||||||
| chr5:78234521
|
G | A | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.280-6282C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78234521 | ||||||
| chr5:78234673
|
T | G | 1 | a0002c0003t0001g0065 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.279+6189A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78234673 | ||||||
| chr5:78234683
|
A | G | 4 | a0001c0001t0002g0019a0001c0001t0002g0023a0001c0001t0002g0028others(1): Show | 4 | HG02074.hp2 NA18992.hp2 NA18995.hp1 others(1): Show |
intron_variant | MODIFIER | c.279+6179T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78234683 | ||||||
| chr5:78234735
|
A | G | 87 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(84): Show | 87 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(84): Show |
intron_variant | MODIFIER | c.279+6127T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78234735 | ||||||
| chr5:78235259
|
T | C | 1 | a0002c0003t0001g0067 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.279+5603A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78235259 | ||||||
| chr5:78235398
|
C | A | 2 | a0001c0001t0001g0147a0003c0007t0002g0148 | 2 | HG02615.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.279+5464G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78235398 | ||||||
| chr5:78235445
|
G | A | 1 | a0001c0001t0001g0076 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.279+5417C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78235445 | ||||||
| chr5:78235577
|
C | A | 9 | a0001c0005t0001g0195a0001c0005t0002g0004a0001c0005t0002g0187others(6): Show | 9 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.279+5285G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78235577 | ||||||
| chr5:78235685
|
C | A | 1 | a0001c0001t0002g0015 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.279+5177G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78235685 | ||||||
| chr5:78235712
|
G | A | 5 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(2): Show | 5 | HG02258.hp2 HG02615.hp2 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.279+5150C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78235712 | ||||||
| chr5:78235766
|
T | C | 1 | a0002c0003t0002g0058 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.279+5096A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78235766 | ||||||
| chr5:78236094
|
T | C | 1 | a0001c0005t0002g0189 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.279+4768A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78236094 | ||||||
| chr5:78236244
|
T | C | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.279+4618A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78236244 | ||||||
| chr5:78236262
|
T | C | 1 | a0002c0003t0001g0043 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.279+4600A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78236262 | ||||||
| chr5:78236355
|
AG | A | 95 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(92): Show | 95 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(92): Show |
intron_variant | MODIFIER | c.279+4506delC | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78236355 | ||||||
| chr5:78236356
|
G | A | 52 | a0001c0001t0002g0011a0001c0002t0001g0138a0001c0002t0001g0139others(49): Show | 52 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(49): Show |
intron_variant | MODIFIER | c.279+4506C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78236356 | ||||||
| chr5:78236451
|
G | A | 10 | a0001c0005t0001g0195a0001c0005t0002g0004a0001c0005t0002g0187others(7): Show | 10 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(7): Show |
intron_variant | MODIFIER | c.279+4411C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78236451 | ||||||
| chr5:78236476
|
G | A | 1 | a0002c0003t0001g0041 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.279+4386C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78236476 | ||||||
| chr5:78236517
|
C | G | 1 | a0001c0005t0002g0189 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.279+4345G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78236517 | ||||||
| chr5:78236652
|
G | A | 7 | a0001c0002t0002g0132a0001c0002t0002g0133a0001c0002t0002g0134others(4): Show | 7 | NA18956.hp2 NA18964.hp1 NA18969.hp1 others(4): Show |
intron_variant | MODIFIER | c.279+4210C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78236652 | ||||||
| chr5:78236685
|
G | C | 50 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(47): Show | 50 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(47): Show |
intron_variant | MODIFIER | c.279+4177C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78236685 | ||||||
| chr5:78236708
|
A | G | 1 | a0002c0003t0001g0065 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.279+4154T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78236708 | ||||||
| chr5:78236912
|
G | A | 87 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(84): Show | 87 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(84): Show |
intron_variant | MODIFIER | c.279+3950C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78236912 | ||||||
| chr5:78236962
|
A | G | 1 | a0002c0003t0001g0092 | 1 | NA18989.hp2 | intron_variant | MODIFIER | c.279+3900T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78236962 | ||||||
| chr5:78236990
|
T | C | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.279+3872A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78236990 | ||||||
| chr5:78237045
|
C | A | 87 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(84): Show | 87 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(84): Show |
intron_variant | MODIFIER | c.279+3817G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78237045 | ||||||
| chr5:78237522
|
T | C | 2 | a0001c0001t0001g0198a0002c0003t0001g0219 | 2 | HG01168.hp2 HG01358.hp2 |
intron_variant | MODIFIER | c.279+3340A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78237522 | ||||||
| chr5:78237804
|
C | T | 1 | a0001c0002t0002g0155 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.279+3058G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78237804 | ||||||
| chr5:78237807
|
T | C | 87 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(84): Show | 87 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(84): Show |
intron_variant | MODIFIER | c.279+3055A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78237807 | ||||||
| chr5:78237827
|
G | C | 1 | a0002c0003t0001g0070 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.279+3035C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78237827 | ||||||
| chr5:78237879
|
A | G | 2 | a0001c0001t0001g0102a0001c0001t0001g0103 | 2 | HG00099.hp2 HG00639.hp2 |
intron_variant | MODIFIER | c.279+2983T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78237879 | ||||||
| chr5:78238083
|
G | C | 1 | a0001c0004t0002g0002 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.279+2779C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78238083 | ||||||
| chr5:78238121
|
G | A | 2 | a0002c0003t0001g0090a0009c0016t0001g0089 | 2 | NA18952.hp1 NA18956.hp1 |
intron_variant | MODIFIER | c.279+2741C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78238121 | ||||||
| chr5:78238247
|
C | T | 96 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(93): Show | 96 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(93): Show |
intron_variant | MODIFIER | c.279+2615G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78238247 | ||||||
| chr5:78238451
|
T | C | 97 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(94): Show | 97 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(94): Show |
intron_variant | MODIFIER | c.279+2411A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78238451 | ||||||
| chr5:78238643
|
G | A | 1 | a0001c0004t0002g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.279+2219C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78238643 | ||||||
| chr5:78238882
|
C | T | 1 | a0002c0003t0001g0080 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.279+1980G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78238882 | ||||||
| chr5:78239158
|
T | C | 5 | a0001c0004t0001g0077a0001c0004t0002g0006a0003c0008t0002g0035others(2): Show | 5 | HG02630.hp1 NA18522.hp2 NA18906.hp2 others(2): Show |
intron_variant | MODIFIER | c.279+1704A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78239158 | ||||||
| chr5:78239208
|
T | G | 1 | a0001c0001t0001g0199 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.279+1654A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78239208 | ||||||
| chr5:78239228
|
T | C | 1 | a0001c0005t0002g0194 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.279+1634A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78239228 | ||||||
| chr5:78239336
|
T | C | 87 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(84): Show | 87 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(84): Show |
intron_variant | MODIFIER | c.279+1526A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78239336 | ||||||
| chr5:78239353
|
C | T | 2 | a0001c0001t0002g0019a0001c0001t0002g0023 | 2 | NA18992.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.279+1509G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78239353 | ||||||
| chr5:78239411
|
CAG | C | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.279+1449_279+1450d others(4): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78239411 | ||||||
| chr5:78239427
|
T | C | 1 | a0001c0004t0002g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.279+1435A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78239427 | ||||||
| chr5:78239428
|
G | A | 1 | a0001c0001t0001g0210 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.279+1434C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78239428 | ||||||
| chr5:78239472
|
G | GA | 9 | a0001c0001t0001g0084a0001c0001t0001g0099a0001c0001t0001g0104others(6): Show | 9 | HG02615.hp2 HG02738.hp2 HG03471.hp2 others(6): Show |
intron_variant | MODIFIER | c.279+1389dupT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78239472 | ||||||
| chr5:78239502
|
G | A | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.279+1360C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78239502 | ||||||
| chr5:78239538
|
C | A | 1 | a0001c0004t0002g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.279+1324G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78239538 | ||||||
| chr5:78239553
|
T | A | 3 | a0002c0003t0001g0053a0002c0003t0001g0054a0002c0003t0001g0086 | 3 | HG02074.hp1 NA19070.hp2 NA19083.hp2 |
intron_variant | MODIFIER | c.279+1309A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78239553 | ||||||
| chr5:78239591
|
T | A | 1 | a0001c0002t0001g0184 | 1 | NA18978.hp2 | intron_variant | MODIFIER | c.279+1271A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78239591 | ||||||
| chr5:78239610
|
C | CA | 62 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(59): Show | 62 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(59): Show |
intron_variant | MODIFIER | c.279+1251dupT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78239610 | ||||||
| chr5:78239619
|
A | T | 1 | a0001c0005t0002g0191 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.279+1243T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78239619 | ||||||
| chr5:78239652
|
G | A | 51 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0083others(48): Show | 51 | HG00099.hp1 HG00099.hp2 HG00558.hp1 others(48): Show |
intron_variant | MODIFIER | c.279+1210C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78239652 | ||||||
| chr5:78239760
|
C | T | 1 | a0001c0005t0002g0189 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.279+1102G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78239760 | ||||||
| chr5:78239761
|
G | A | 1 | a0001c0001t0001g0145 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.279+1101C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78239761 | ||||||
| chr5:78239778
|
C | CA | 61 | a0001c0001t0001g0009a0001c0001t0001g0083a0001c0001t0001g0084others(58): Show | 61 | HG00099.hp2 HG00558.hp1 HG00597.hp1 others(58): Show |
intron_variant | MODIFIER | c.279+1083dupT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78239778 | ||||||
| chr5:78239778
|
C | CAA | 15 | a0001c0001t0001g0008a0001c0001t0001g0220a0001c0001t0001g0224others(12): Show | 15 | HG02055.hp1 HG02258.hp2 HG02280.hp2 others(12): Show |
intron_variant | MODIFIER | c.279+1082_279+1083d others(4): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78239778 | ||||||
| chr5:78239845
|
T | A | 1 | a0001c0001t0002g0011 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.279+1017A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78239845 | ||||||
| chr5:78240007
|
A | T | 1 | a0001c0004t0001g0087 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.279+855T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78240007 | ||||||
| chr5:78240080
|
C | T | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.279+782G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78240080 | ||||||
| chr5:78240086
|
C | T | 29 | a0001c0001t0001g0095a0001c0001t0001g0096a0001c0001t0001g0098others(26): Show | 29 | HG00099.hp1 HG00558.hp2 HG01106.hp2 others(26): Show |
intron_variant | MODIFIER | c.279+776G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78240086 | ||||||
| chr5:78240098
|
T | C | 1 | a0001c0001t0001g0209 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.279+764A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78240098 | ||||||
| chr5:78240142
|
T | C | 1 | a0001c0001t0001g0221 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.279+720A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78240142 | ||||||
| chr5:78240296
|
T | C | 3 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038 | 3 | NA18522.hp2 NA18906.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.279+566A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78240296 | ||||||
| chr5:78240408
|
T | C | 1 | a0001c0001t0001g0091 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.279+454A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78240408 | ||||||
| chr5:78240429
|
G | A | 1 | a0002c0003t0001g0059 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.279+433C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78240429 | ||||||
| chr5:78240466
|
G | T | 1 | a0001c0001t0002g0016 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.279+396C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78240466 | ||||||
| chr5:78240651
|
T | G | 44 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0083others(41): Show | 44 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(41): Show |
intron_variant | MODIFIER | c.279+211A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78240651 | ||||||
| chr5:78240672
|
T | C | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.279+190A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78240672 | ||||||
| chr5:78240681
|
T | C | 1 | a0001c0001t0001g0076 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.279+181A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78240681 | ||||||
| chr5:78240770
|
C | T | 1 | a0001c0001t0001g0096 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.279+92G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | 78240770 | ||||||
| chr5:78241091
|
A | G | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.205-155T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78241091 | ||||||
| chr5:78241204
|
A | AT | 44 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0083others(41): Show | 44 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(41): Show |
intron_variant | MODIFIER | c.205-269dupA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78241204 | ||||||
| chr5:78241381
|
C | A | 1 | a0001c0002t0001g0183 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.205-445G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78241381 | ||||||
| chr5:78241547
|
A | C | 97 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(94): Show | 97 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(94): Show |
intron_variant | MODIFIER | c.205-611T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78241547 | ||||||
| chr5:78241702
|
A | C | 1 | a0001c0001t0001g0220 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.205-766T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78241702 | ||||||
| chr5:78241915
|
C | G | 31 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(28): Show | 31 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(28): Show |
intron_variant | MODIFIER | c.205-979G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78241915 | ||||||
| chr5:78242305
|
G | A | 1 | a0001c0002t0002g0131 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.205-1369C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78242305 | ||||||
| chr5:78242368
|
C | T | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.205-1432G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78242368 | ||||||
| chr5:78242413
|
AT | A | 98 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(95): Show | 98 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(95): Show |
intron_variant | MODIFIER | c.205-1478delA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78242413 | ||||||
| chr5:78242500
|
G | A | 44 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0083others(41): Show | 44 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(41): Show |
intron_variant | MODIFIER | c.205-1564C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78242500 | ||||||
| chr5:78242532
|
G | A | 1 | a0001c0004t0002g0186 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.205-1596C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78242532 | ||||||
| chr5:78242656
|
C | T | 3 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038 | 3 | NA18522.hp2 NA18906.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.205-1720G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78242656 | ||||||
| chr5:78242699
|
G | A | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.205-1763C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78242699 | ||||||
| chr5:78242771
|
A | G | 50 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(47): Show | 50 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(47): Show |
intron_variant | MODIFIER | c.205-1835T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78242771 | ||||||
| chr5:78242792
|
A | G | 3 | a0001c0004t0002g0001a0001c0004t0002g0002a0001c0004t0002g0003 | 3 | HG02615.hp2 HG03453.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.205-1856T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78242792 | ||||||
| chr5:78242830
|
T | C | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.205-1894A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78242830 | ||||||
| chr5:78242879
|
T | C | 1 | a0002c0003t0001g0059 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.205-1943A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78242879 | ||||||
| chr5:78243137
|
T | C | 1 | a0001c0006t0001g0223 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.205-2201A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78243137 | ||||||
| chr5:78243174
|
C | A | 4 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(1): Show | 4 | HG02258.hp2 HG02615.hp2 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.205-2238G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78243174 | ||||||
| chr5:78243273
|
C | CCATT | 38 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(35): Show | 38 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(35): Show |
intron_variant | MODIFIER | c.205-2341_205-2338d others(6): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78243273 | ||||||
| chr5:78243273
|
C | CCATTCAT others(1): Show |
8 | a0001c0001t0002g0011a0001c0004t0001g0077a0001c0005t0002g0004others(5): Show | 8 | HG01168.hp1 HG01496.hp1 HG02055.hp2 others(5): Show |
intron_variant | MODIFIER | c.205-2345_205-2338d others(10): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78243273 | ||||||
| chr5:78243273
|
C | CCATTCAT others(5): Show |
1 | a0001c0005t0001g0195 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.205-2349_205-2338d others(14): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78243273 | ||||||
| chr5:78243273
|
CCATT | C | 18 | a0001c0012t0001g0142a0002c0003t0001g0044a0002c0003t0001g0045others(15): Show | 18 | HG00280.hp1 HG00408.hp2 HG02015.hp1 others(15): Show |
intron_variant | MODIFIER | c.205-2341_205-2338d others(6): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78243273 | ||||||
| chr5:78243505
|
A | C | 1 | a0001c0001t0001g0008 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.205-2569T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78243505 | ||||||
| chr5:78243560
|
A | ATAG | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.205-2627_205-2625d others(5): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78243560 | ||||||
| chr5:78243787
|
GAGTA | G | 92 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(89): Show | 92 | HG00280.hp2 HG00408.hp1 HG00597.hp2 others(89): Show |
intron_variant | MODIFIER | c.205-2855_205-2852d others(6): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78243787 | ||||||
| chr5:78244031
|
A | G | 1 | a0001c0004t0002g0006 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.205-3095T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78244031 | ||||||
| chr5:78244034
|
T | C | 1 | a0001c0005t0001g0195 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.205-3098A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78244034 | ||||||
| chr5:78244105
|
A | G | 45 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0083others(42): Show | 45 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(42): Show |
intron_variant | MODIFIER | c.205-3169T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78244105 | ||||||
| chr5:78244113
|
T | C | 50 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(47): Show | 50 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(47): Show |
intron_variant | MODIFIER | c.205-3177A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78244113 | ||||||
| chr5:78244119
|
A | T | 1 | a0001c0002t0002g0146 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.205-3183T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78244119 | ||||||
| chr5:78244213
|
C | T | 10 | a0001c0004t0001g0005a0001c0004t0001g0077a0001c0004t0002g0001others(7): Show | 10 | HG02258.hp2 HG02615.hp2 HG02630.hp1 others(7): Show |
intron_variant | MODIFIER | c.205-3277G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78244213 | ||||||
| chr5:78244237
|
C | A | 1 | a0001c0001t0002g0011 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.205-3301G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78244237 | ||||||
| chr5:78244427
|
AAAG | A | 11 | a0001c0004t0001g0005a0001c0004t0001g0077a0001c0004t0002g0001others(8): Show | 11 | HG02258.hp2 HG02615.hp2 HG02630.hp1 others(8): Show |
intron_variant | MODIFIER | c.205-3494_205-3492d others(5): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78244427 | ||||||
| chr5:78244571
|
T | C | 1 | a0001c0004t0002g0006 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.205-3635A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78244571 | ||||||
| chr5:78244678
|
T | C | 77 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(74): Show | 77 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(74): Show |
intron_variant | MODIFIER | c.205-3742A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78244678 | ||||||
| chr5:78244792
|
C | T | 1 | a0001c0002t0002g0175 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.205-3856G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78244792 | ||||||
| chr5:78244960
|
A | G | 6 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(3): Show | 6 | HG02258.hp2 HG02615.hp2 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.205-4024T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78244960 | ||||||
| chr5:78245248
|
C | T | 1 | a0002c0003t0001g0090 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.205-4312G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78245248 | ||||||
| chr5:78245280
|
T | G | 13 | a0001c0005t0001g0195a0001c0005t0002g0004a0001c0005t0002g0187others(10): Show | 13 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.205-4344A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78245280 | ||||||
| chr5:78245367
|
G | A | 4 | a0001c0004t0001g0077a0003c0008t0002g0035a0003c0008t0002g0036others(1): Show | 4 | HG02630.hp1 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.205-4431C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78245367 | ||||||
| chr5:78245462
|
T | C | 4 | a0001c0004t0001g0077a0003c0008t0002g0035a0003c0008t0002g0036others(1): Show | 4 | HG02630.hp1 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.205-4526A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78245462 | ||||||
| chr5:78245496
|
C | T | 4 | a0001c0004t0001g0077a0003c0008t0002g0035a0003c0008t0002g0036others(1): Show | 4 | HG02630.hp1 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.205-4560G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78245496 | ||||||
| chr5:78245594
|
A | C | 1 | a0001c0001t0001g0029 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.205-4658T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78245594 | ||||||
| chr5:78245608
|
T | A | 88 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(85): Show | 88 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(85): Show |
intron_variant | MODIFIER | c.205-4672A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78245608 | ||||||
| chr5:78245657
|
C | T | 83 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(80): Show | 83 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(80): Show |
intron_variant | MODIFIER | c.205-4721G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78245657 | ||||||
| chr5:78245859
|
G | A | 13 | a0001c0005t0001g0195a0001c0005t0002g0004a0001c0005t0002g0187others(10): Show | 13 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.205-4923C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78245859 | ||||||
| chr5:78246219
|
T | C | 1 | a0009c0016t0001g0089 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.205-5283A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78246219 | ||||||
| chr5:78246232
|
G | A | 1 | a0001c0001t0001g0210 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.205-5296C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78246232 | ||||||
| chr5:78246238
|
C | G | 2 | a0001c0001t0001g0008a0001c0001t0001g0009 | 2 | HG00741.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.205-5302G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78246238 | ||||||
| chr5:78246470
|
T | C | 1 | a0001c0004t0002g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.205-5534A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78246470 | ||||||
| chr5:78246562
|
A | G | 1 | a0001c0004t0002g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.205-5626T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78246562 | ||||||
| chr5:78246714
|
T | TC | 10 | a0001c0001t0001g0095a0001c0001t0001g0098a0001c0001t0001g0099others(7): Show | 10 | HG00558.hp2 HG01496.hp2 HG01928.hp2 others(7): Show |
intron_variant | MODIFIER | c.205-5779dupG | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78246714 | ||||||
| chr5:78246735
|
G | A | 145 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(142): Show | 145 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(142): Show |
intron_variant | MODIFIER | c.205-5799C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78246735 | ||||||
| chr5:78246819
|
T | C | 1 | a0001c0004t0002g0186 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.205-5883A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78246819 | ||||||
| chr5:78247121
|
T | A | 190 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(187): Show | 190 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(187): Show |
intron_variant | MODIFIER | c.205-6185A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78247121 | ||||||
| chr5:78247282
|
GATAATAT others(5): Show |
G | 1 | a0002c0003t0001g0090 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.205-6358_205-6347d others(14): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78247282 | ||||||
| chr5:78247318
|
A | G | 1 | a0001c0001t0002g0011 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.205-6382T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78247318 | ||||||
| chr5:78247332
|
C | T | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.205-6396G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78247332 | ||||||
| chr5:78247337
|
C | T | 4 | a0001c0001t0001g0095a0001c0001t0001g0098a0001c0001t0001g0101others(1): Show | 4 | HG01496.hp2 HG01943.hp1 HG01993.hp2 others(1): Show |
intron_variant | MODIFIER | c.205-6401G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78247337 | ||||||
| chr5:78247387
|
T | G | 13 | a0001c0005t0001g0195a0001c0005t0002g0004a0001c0005t0002g0187others(10): Show | 13 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.205-6451A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78247387 | ||||||
| chr5:78247462
|
T | C | 1 | a0001c0005t0001g0195 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.205-6526A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78247462 | ||||||
| chr5:78247534
|
G | A | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.205-6598C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78247534 | ||||||
| chr5:78247553
|
G | C | 1 | a0001c0001t0001g0217 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.205-6617C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78247553 | ||||||
| chr5:78247705
|
C | T | 1 | a0009c0016t0001g0089 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.205-6769G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78247705 | ||||||
| chr5:78247887
|
C | T | 13 | a0001c0005t0001g0195a0001c0005t0002g0004a0001c0005t0002g0187others(10): Show | 13 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.205-6951G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78247887 | ||||||
| chr5:78248005
|
G | A | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.205-7069C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78248005 | ||||||
| chr5:78248041
|
C | T | 2 | a0001c0002t0001g0138a0001c0002t0001g0139 | 2 | HG00639.hp1 HG01106.hp1 |
intron_variant | MODIFIER | c.205-7105G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78248041 | ||||||
| chr5:78248078
|
T | C | 1 | a0001c0004t0001g0005 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.205-7142A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78248078 | ||||||
| chr5:78248230
|
G | A | 1 | a0001c0005t0002g0190 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.205-7294C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78248230 | ||||||
| chr5:78248492
|
C | CA | 11 | a0001c0001t0001g0008a0001c0005t0001g0195a0001c0005t0002g0004others(8): Show | 11 | HG00597.hp1 HG01168.hp1 HG02055.hp2 others(8): Show |
intron_variant | MODIFIER | c.205-7557dupT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78248492 | ||||||
| chr5:78248492
|
CA | C | 97 | a0001c0001t0001g0037a0001c0001t0001g0075a0001c0001t0001g0076others(94): Show | 97 | HG00099.hp1 HG00280.hp2 HG00558.hp2 others(94): Show |
intron_variant | MODIFIER | c.205-7557delT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78248492 | ||||||
| chr5:78248492
|
CAA | C | 34 | a0001c0001t0001g0013a0001c0001t0001g0083a0001c0001t0001g0084others(31): Show | 34 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(31): Show |
intron_variant | MODIFIER | c.205-7558_205-7557d others(4): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78248492 | ||||||
| chr5:78248492
|
CAAA | C | 31 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0002g0011others(28): Show | 31 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(28): Show |
intron_variant | MODIFIER | c.205-7559_205-7557d others(5): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78248492 | ||||||
| chr5:78248536
|
C | T | 13 | a0001c0005t0001g0195a0001c0005t0002g0004a0001c0005t0002g0187others(10): Show | 13 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.205-7600G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78248536 | ||||||
| chr5:78248545
|
C | A | 1 | a0001c0001t0001g0225 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.205-7609G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78248545 | ||||||
| chr5:78248688
|
C | A | 68 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(65): Show | 68 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(65): Show |
intron_variant | MODIFIER | c.205-7752G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78248688 | ||||||
| chr5:78248732
|
A | G | 5 | a0001c0004t0002g0006a0003c0008t0002g0035a0003c0008t0002g0036others(2): Show | 5 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(2): Show |
intron_variant | MODIFIER | c.205-7796T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78248732 | ||||||
| chr5:78248939
|
C | T | 1 | a0002c0003t0001g0054 | 1 | NA19070.hp2 | intron_variant | MODIFIER | c.205-8003G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78248939 | ||||||
| chr5:78248992
|
T | A | 5 | a0001c0002t0002g0175a0001c0002t0002g0176a0001c0002t0002g0177others(2): Show | 5 | HG00280.hp2 HG01070.hp1 HG02148.hp2 others(2): Show |
intron_variant | MODIFIER | c.205-8056A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78248992 | ||||||
| chr5:78249130
|
G | A | 1 | a0001c0002t0002g0177 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.205-8194C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78249130 | ||||||
| chr5:78249156
|
A | G | 1 | a0001c0004t0002g0006 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.205-8220T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78249156 | ||||||
| chr5:78249233
|
C | G | 144 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(141): Show | 144 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(141): Show |
intron_variant | MODIFIER | c.205-8297G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78249233 | ||||||
| chr5:78249360
|
G | A | 1 | a0001c0002t0002g0146 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.205-8424C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78249360 | ||||||
| chr5:78249529
|
A | AG | 13 | a0001c0005t0001g0195a0001c0005t0002g0004a0001c0005t0002g0187others(10): Show | 13 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.205-8594dupC | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78249529 | ||||||
| chr5:78249552
|
A | G | 36 | a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0102others(33): Show | 36 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(33): Show |
intron_variant | MODIFIER | c.205-8616T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78249552 | ||||||
| chr5:78249579
|
C | CT | 10 | a0001c0001t0001g0091a0001c0001t0001g0173a0001c0002t0001g0184others(7): Show | 10 | HG02602.hp2 HG02738.hp1 HG03195.hp2 others(7): Show |
intron_variant | MODIFIER | c.205-8644dupA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78249579 | ||||||
| chr5:78249579
|
CT | C | 63 | a0001c0001t0001g0013a0001c0001t0001g0032a0001c0001t0001g0075others(60): Show | 63 | HG00099.hp1 HG00408.hp1 HG00558.hp2 others(60): Show |
intron_variant | MODIFIER | c.205-8644delA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78249579 | ||||||
| chr5:78249584
|
T | C | 5 | a0001c0001t0001g0198a0001c0001t0001g0202a0001c0001t0001g0212others(2): Show | 5 | HG01168.hp2 HG01358.hp2 HG01934.hp2 others(2): Show |
intron_variant | MODIFIER | c.205-8648A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78249584 | ||||||
| chr5:78249585
|
T | C | 1 | a0001c0004t0002g0186 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.205-8649A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78249585 | ||||||
| chr5:78249610
|
G | T | 1 | a0001c0001t0002g0011 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.205-8674C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78249610 | ||||||
| chr5:78250088
|
A | C | 5 | a0001c0004t0002g0006a0003c0008t0002g0035a0003c0008t0002g0036others(2): Show | 5 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(2): Show |
intron_variant | MODIFIER | c.205-9152T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78250088 | ||||||
| chr5:78250233
|
C | A | 1 | a0001c0001t0002g0033 | 1 | NA18972.hp1 | intron_variant | MODIFIER | c.205-9297G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78250233 | ||||||
| chr5:78250234
|
A | G | 1 | a0001c0001t0002g0033 | 1 | NA18972.hp1 | intron_variant | MODIFIER | c.205-9298T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78250234 | ||||||
| chr5:78250424
|
T | C | 1 | a0001c0004t0002g0226 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.205-9488A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78250424 | ||||||
| chr5:78250532
|
C | A | 1 | a0001c0001t0001g0111 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.205-9596G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78250532 | ||||||
| chr5:78250608
|
G | A | 54 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0144others(51): Show | 54 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(51): Show |
intron_variant | MODIFIER | c.205-9672C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78250608 | ||||||
| chr5:78250641
|
A | C | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.205-9705T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78250641 | ||||||
| chr5:78250674
|
A | G | 1 | a0001c0005t0002g0192 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.205-9738T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78250674 | ||||||
| chr5:78250961
|
A | T | 68 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(65): Show | 68 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(65): Show |
intron_variant | MODIFIER | c.205-10025T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78250961 | ||||||
| chr5:78250972
|
A | G | 146 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(143): Show | 146 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(143): Show |
intron_variant | MODIFIER | c.205-10036T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78250972 | ||||||
| chr5:78250974
|
C | G | 1 | a0002c0003t0001g0067 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.205-10038G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78250974 | ||||||
| chr5:78251113
|
G | C | 4 | a0003c0008t0002g0035a0003c0008t0002g0036a0003c0008t0002g0038others(1): Show | 4 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.205-10177C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78251113 | ||||||
| chr5:78251220
|
AAC | A | 54 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0144others(51): Show | 54 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(51): Show |
intron_variant | MODIFIER | c.205-10286_205-1028 others(6): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78251220 | ||||||
| chr5:78251240
|
A | C | 1 | a0001c0002t0002g0157 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.205-10304T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78251240 | ||||||
| chr5:78251307
|
G | A | 36 | a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0102others(33): Show | 36 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(33): Show |
intron_variant | MODIFIER | c.205-10371C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78251307 | ||||||
| chr5:78251373
|
G | C | 68 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(65): Show | 68 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(65): Show |
intron_variant | MODIFIER | c.205-10437C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78251373 | ||||||
| chr5:78252505
|
CAG | C | 13 | a0001c0005t0001g0195a0001c0005t0002g0004a0001c0005t0002g0187others(10): Show | 13 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.205-11571_205-1157 others(6): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78252505 | ||||||
| chr5:78252556
|
G | A | 1 | a0001c0001t0002g0119 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.205-11620C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78252556 | ||||||
| chr5:78252572
|
G | A | 13 | a0001c0005t0001g0195a0001c0005t0002g0004a0001c0005t0002g0187others(10): Show | 13 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.205-11636C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78252572 | ||||||
| chr5:78252653
|
G | A | 68 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(65): Show | 68 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(65): Show |
intron_variant | MODIFIER | c.205-11717C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78252653 | ||||||
| chr5:78252686
|
C | T | 2 | a0001c0002t0001g0138a0001c0002t0001g0139 | 2 | HG00639.hp1 HG01106.hp1 |
intron_variant | MODIFIER | c.205-11750G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78252686 | ||||||
| chr5:78252865
|
C | T | 1 | a0001c0004t0002g0186 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.205-11929G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78252865 | ||||||
| chr5:78252998
|
T | C | 1 | a0002c0003t0001g0090 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.205-12062A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78252998 | ||||||
| chr5:78253085
|
C | T | 1 | a0001c0004t0002g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.205-12149G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78253085 | ||||||
| chr5:78253469
|
C | T | 5 | a0001c0002t0001g0180a0001c0002t0001g0181a0001c0002t0001g0182others(2): Show | 5 | HG00597.hp2 HG02015.hp2 NA18949.hp2 others(2): Show |
intron_variant | MODIFIER | c.205-12533G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78253469 | ||||||
| chr5:78253475
|
G | T | 77 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(74): Show | 77 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(74): Show |
intron_variant | MODIFIER | c.205-12539C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78253475 | ||||||
| chr5:78253560
|
C | A | 1 | a0002c0003t0001g0059 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.205-12624G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78253560 | ||||||
| chr5:78253560
|
C | T | 2 | a0001c0001t0001g0161a0001c0001t0001g0173 | 2 | HG03516.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.205-12624G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78253560 | ||||||
| chr5:78253652
|
G | C | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.205-12716C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78253652 | ||||||
| chr5:78253661
|
A | C | 1 | a0001c0001t0001g0199 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.205-12725T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78253661 | ||||||
| chr5:78253692
|
C | T | 1 | a0001c0004t0002g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.205-12756G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78253692 | ||||||
| chr5:78253694
|
C | T | 1 | a0002c0003t0001g0045 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.205-12758G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78253694 | ||||||
| chr5:78253704
|
C | A | 13 | a0001c0005t0001g0195a0001c0005t0002g0004a0001c0005t0002g0187others(10): Show | 13 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.205-12768G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78253704 | ||||||
| chr5:78253803
|
A | G | 1 | a0001c0001t0002g0018 | 1 | NA19009.hp2 | intron_variant | MODIFIER | c.205-12867T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78253803 | ||||||
| chr5:78253892
|
G | A | 1 | a0001c0001t0002g0028 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.205-12956C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78253892 | ||||||
| chr5:78253957
|
C | CA | 7 | a0001c0004t0002g0006a0002c0003t0001g0065a0003c0008t0002g0035others(4): Show | 7 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(4): Show |
intron_variant | MODIFIER | c.205-13022dupT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78253957 | ||||||
| chr5:78253957
|
CA | C | 49 | a0001c0001t0001g0075a0001c0001t0001g0083a0001c0001t0001g0084others(46): Show | 49 | HG00099.hp2 HG00558.hp1 HG00597.hp2 others(46): Show |
intron_variant | MODIFIER | c.205-13022delT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78253957 | ||||||
| chr5:78254038
|
A | G | 54 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0144others(51): Show | 54 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(51): Show |
intron_variant | MODIFIER | c.205-13102T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78254038 | ||||||
| chr5:78254154
|
G | A | 3 | a0001c0001t0002g0097a0001c0001t0002g0112a0001c0001t0002g0115 | 3 | HG00558.hp2 NA18961.hp1 NA18964.hp2 |
intron_variant | MODIFIER | c.205-13218C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78254154 | ||||||
| chr5:78254416
|
A | G | 1 | a0001c0004t0002g0186 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.204+13104T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78254416 | ||||||
| chr5:78254487
|
A | G | 1 | a0001c0001t0001g0032 | 1 | NA18978.hp1 | intron_variant | MODIFIER | c.204+13033T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78254487 | ||||||
| chr5:78254492
|
G | A | 3 | a0001c0012t0001g0142a0003c0007t0002g0140a0003c0007t0002g0141 | 3 | HG02723.hp2 HG02818.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.204+13028C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78254492 | ||||||
| chr5:78254506
|
G | A | 1 | a0001c0004t0001g0005 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.204+13014C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78254506 | ||||||
| chr5:78254698
|
G | A | 35 | a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0102others(32): Show | 35 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(32): Show |
intron_variant | MODIFIER | c.204+12822C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78254698 | ||||||
| chr5:78255127
|
A | T | 1 | a0001c0004t0002g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.204+12393T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78255127 | ||||||
| chr5:78255156
|
T | TAGA | 5 | a0001c0004t0002g0006a0003c0008t0002g0035a0003c0008t0002g0036others(2): Show | 5 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(2): Show |
intron_variant | MODIFIER | c.204+12361_204+1236 others(7): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78255156 | ||||||
| chr5:78255375
|
T | C | 1 | a0001c0006t0001g0223 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.204+12145A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78255375 | ||||||
| chr5:78255465
|
TA | T | 146 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(143): Show | 146 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(143): Show |
intron_variant | MODIFIER | c.204+12054delT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78255465 | ||||||
| chr5:78255486
|
A | G | 5 | a0001c0001t0001g0104a0001c0001t0001g0106a0001c0001t0001g0107others(2): Show | 5 | HG01361.hp1 HG02109.hp1 HG02738.hp2 others(2): Show |
intron_variant | MODIFIER | c.204+12034T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78255486 | ||||||
| chr5:78255729
|
T | C | 1 | a0001c0001t0001g0173 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.204+11791A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78255729 | ||||||
| chr5:78255874
|
T | C | 13 | a0001c0005t0001g0195a0001c0005t0002g0004a0001c0005t0002g0187others(10): Show | 13 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.204+11646A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78255874 | ||||||
| chr5:78255896
|
A | G | 145 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(142): Show | 145 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(142): Show |
intron_variant | MODIFIER | c.204+11624T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78255896 | ||||||
| chr5:78256100
|
G | A | 4 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(1): Show | 4 | HG02258.hp2 HG02615.hp2 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.204+11420C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78256100 | ||||||
| chr5:78256190
|
T | C | 4 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(1): Show | 4 | HG02258.hp2 HG02615.hp2 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.204+11330A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78256190 | ||||||
| chr5:78256447
|
A | T | 1 | a0001c0001t0001g0206 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.204+11073T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78256447 | ||||||
| chr5:78256785
|
G | A | 1 | a0001c0004t0001g0077 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.204+10735C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78256785 | ||||||
| chr5:78257037
|
T | C | 1 | a0001c0001t0001g0104 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.204+10483A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78257037 | ||||||
| chr5:78257066
|
T | A | 77 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(74): Show | 77 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(74): Show |
intron_variant | MODIFIER | c.204+10454A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78257066 | ||||||
| chr5:78257125
|
C | G | 2 | a0001c0001t0001g0161a0001c0001t0001g0173 | 2 | HG03516.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.204+10395G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78257125 | ||||||
| chr5:78257175
|
A | G | 5 | a0001c0004t0002g0006a0003c0008t0002g0035a0003c0008t0002g0036others(2): Show | 5 | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(2): Show |
intron_variant | MODIFIER | c.204+10345T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78257175 | ||||||
| chr5:78257260
|
T | C | 2 | a0001c0001t0001g0102a0001c0001t0001g0103 | 2 | HG00099.hp2 HG00639.hp2 |
intron_variant | MODIFIER | c.204+10260A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78257260 | ||||||
| chr5:78257452
|
T | A | 35 | a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0102others(32): Show | 35 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(32): Show |
intron_variant | MODIFIER | c.204+10068A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78257452 | ||||||
| chr5:78257753
|
T | C | 32 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(29): Show | 32 | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.204+9767A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78257753 | ||||||
| chr5:78257824
|
C | T | 1 | a0003c0007t0002g0140 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.204+9696G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78257824 | ||||||
| chr5:78257944
|
A | G | 1 | a0001c0005t0002g0192 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.204+9576T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78257944 | ||||||
| chr5:78257979
|
C | A | 30 | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0001g0197others(27): Show | 30 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(27): Show |
intron_variant | MODIFIER | c.204+9541G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78257979 | ||||||
| chr5:78258113
|
G | C | 9 | a0001c0002t0002g0130a0001c0002t0002g0131a0001c0002t0002g0156others(6): Show | 9 | HG00735.hp1 HG01175.hp1 HG01361.hp2 others(6): Show |
intron_variant | MODIFIER | c.204+9407C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78258113 | ||||||
| chr5:78258329
|
T | C | 1 | a0001c0001t0001g0206 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.204+9191A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78258329 | ||||||
| chr5:78258518
|
C | T | 68 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(65): Show | 68 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(65): Show |
intron_variant | MODIFIER | c.204+9002G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78258518 | ||||||
| chr5:78258962
|
G | C | 1 | a0001c0001t0001g0173 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.204+8558C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78258962 | ||||||
| chr5:78259046
|
G | A | 5 | a0001c0001t0001g0144a0001c0001t0001g0145a0001c0001t0001g0147others(2): Show | 5 | HG02109.hp2 HG02615.hp1 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.204+8474C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78259046 | ||||||
| chr5:78259102
|
G | C | 1 | a0002c0003t0001g0060 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.204+8418C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78259102 | ||||||
| chr5:78259135
|
C | T | 4 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(1): Show | 4 | HG02258.hp2 HG02615.hp2 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.204+8385G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78259135 | ||||||
| chr5:78259173
|
A | G | 3 | a0001c0001t0001g0203a0001c0001t0001g0204a0001c0001t0001g0214 | 3 | HG01256.hp1 HG01346.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.204+8347T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78259173 | ||||||
| chr5:78259192
|
G | A | 1 | a0001c0001t0002g0023 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.204+8328C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78259192 | ||||||
| chr5:78259202
|
C | T | 1 | a0001c0001t0001g0207 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.204+8318G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78259202 | ||||||
| chr5:78259246
|
C | CA | 42 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(39): Show | 42 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(39): Show |
intron_variant | MODIFIER | c.204+8273dupT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78259246 | ||||||
| chr5:78259257
|
A | G | 1 | a0002c0003t0001g0088 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.204+8263T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78259257 | ||||||
| chr5:78259654
|
T | C | 1 | a0001c0001t0001g0029 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.204+7866A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78259654 | ||||||
| chr5:78259732
|
C | T | 2 | a0001c0004t0002g0007a0007c0014t0002g0196 | 2 | HG02723.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.204+7788G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78259732 | ||||||
| chr5:78259793
|
C | A | 2 | a0002c0003t0001g0063a0002c0003t0001g0071 | 2 | NA18973.hp2 NA19057.hp1 |
intron_variant | MODIFIER | c.204+7727G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78259793 | ||||||
| chr5:78260014
|
A | G | 1 | a0001c0001t0001g0091 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.204+7506T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78260014 | ||||||
| chr5:78260164
|
G | A | 1 | a0001c0001t0001g0216 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.204+7356C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78260164 | ||||||
| chr5:78260192
|
T | A | 2 | a0001c0001t0001g0203a0001c0001t0001g0220 | 2 | HG02280.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.204+7328A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78260192 | ||||||
| chr5:78260206
|
G | A | 54 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0144others(51): Show | 54 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(51): Show |
intron_variant | MODIFIER | c.204+7314C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78260206 | ||||||
| chr5:78260262
|
C | T | 1 | a0001c0005t0002g0192 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.204+7258G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78260262 | ||||||
| chr5:78260287
|
C | A | 32 | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0001g0197others(29): Show | 32 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(29): Show |
intron_variant | MODIFIER | c.204+7233G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78260287 | ||||||
| chr5:78260298
|
G | A | 1 | a0001c0001t0004g0129 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.204+7222C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78260298 | ||||||
| chr5:78260360
|
GCAGATCA others(8): Show |
G | 1 | a0001c0004t0002g0006 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.204+7145_204+7159d others(17): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78260360 | ||||||
| chr5:78260525
|
C | T | 32 | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0001g0197others(29): Show | 32 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(29): Show |
intron_variant | MODIFIER | c.204+6995G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78260525 | ||||||
| chr5:78260526
|
G | A | 2 | a0001c0001t0001g0075a0001c0001t0001g0082 | 2 | HG02647.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.204+6994C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78260526 | ||||||
| chr5:78260552
|
C | G | 9 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0144others(6): Show | 9 | HG00741.hp1 HG01884.hp2 HG02109.hp2 others(6): Show |
intron_variant | MODIFIER | c.204+6968G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78260552 | ||||||
| chr5:78260581
|
G | A | 31 | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0001g0197others(28): Show | 31 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(28): Show |
intron_variant | MODIFIER | c.204+6939C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78260581 | ||||||
| chr5:78260691
|
C | A | 1 | a0002c0003t0001g0070 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.204+6829G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78260691 | ||||||
| chr5:78260858
|
C | T | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.204+6662G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78260858 | ||||||
| chr5:78260865
|
TTG | T | 111 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0037others(108): Show | 111 | HG00099.hp2 HG00280.hp2 HG00558.hp1 others(108): Show |
intron_variant | MODIFIER | c.204+6653_204+6654d others(4): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78260865 | ||||||
| chr5:78260867
|
G | T | 1 | a0002c0003t0001g0086 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.204+6653C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78260867 | ||||||
| chr5:78260926
|
T | C | 1 | a0001c0001t0002g0017 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.204+6594A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78260926 | ||||||
| chr5:78261271
|
C | A | 1 | a0001c0001t0001g0149 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.204+6249G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78261271 | ||||||
| chr5:78261296
|
A | G | 1 | a0002c0003t0001g0066 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.204+6224T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78261296 | ||||||
| chr5:78261496
|
A | G | 2 | a0001c0001t0001g0104a0001c0001t0001g0128 | 2 | HG02738.hp2 NA20905.hp2 |
intron_variant | MODIFIER | c.204+6024T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78261496 | ||||||
| chr5:78261535
|
G | A | 1 | a0002c0003t0001g0061 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.204+5985C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78261535 | ||||||
| chr5:78261559
|
G | T | 1 | a0002c0003t0001g0043 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.204+5961C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78261559 | ||||||
| chr5:78261756
|
G | GGTT | 136 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(133): Show | 136 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(133): Show |
intron_variant | MODIFIER | c.204+5761_204+5763d others(5): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78261756 | ||||||
| chr5:78261766
|
T | G | 1 | a0001c0004t0002g0006 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.204+5754A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78261766 | ||||||
| chr5:78261813
|
A | G | 111 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0037others(108): Show | 111 | HG00099.hp2 HG00280.hp2 HG00558.hp1 others(108): Show |
intron_variant | MODIFIER | c.204+5707T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78261813 | ||||||
| chr5:78261840
|
C | T | 1 | a0001c0001t0001g0203 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.204+5680G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78261840 | ||||||
| chr5:78261910
|
C | T | 60 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0037others(57): Show | 60 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(57): Show |
intron_variant | MODIFIER | c.204+5610G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78261910 | ||||||
| chr5:78262011
|
C | T | 4 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(1): Show | 4 | HG02258.hp2 HG02615.hp2 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.204+5509G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78262011 | ||||||
| chr5:78262037
|
G | C | 1 | a0002c0003t0001g0043 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.204+5483C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78262037 | ||||||
| chr5:78262042
|
T | C | 1 | a0002c0003t0001g0061 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.204+5478A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78262042 | ||||||
| chr5:78262164
|
T | C | 1 | a0001c0002t0002g0179 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.204+5356A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78262164 | ||||||
| chr5:78262587
|
T | C | 1 | a0002c0003t0001g0062 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.204+4933A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78262587 | ||||||
| chr5:78262683
|
C | CT | 36 | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0001g0197others(33): Show | 36 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(33): Show |
intron_variant | MODIFIER | c.204+4836dupA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78262683 | ||||||
| chr5:78263005
|
A | G | 2 | a0001c0004t0002g0006a0001c0004t0002g0007 | 2 | HG02809.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.204+4515T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78263005 | ||||||
| chr5:78263040
|
A | C | 1 | a0002c0003t0001g0100 | 1 | NA18987.hp1 | intron_variant | MODIFIER | c.204+4480T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78263040 | ||||||
| chr5:78263114
|
A | G | 29 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(26): Show | 29 | HG00408.hp1 HG01496.hp1 HG02071.hp2 others(26): Show |
intron_variant | MODIFIER | c.204+4406T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78263114 | ||||||
| chr5:78263205
|
T | C | 1 | a0001c0001t0001g0200 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.204+4315A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78263205 | ||||||
| chr5:78263317
|
T | C | 12 | a0001c0005t0001g0195a0001c0005t0002g0004a0001c0005t0002g0187others(9): Show | 12 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.204+4203A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78263317 | ||||||
| chr5:78263733
|
C | A | 1 | a0001c0005t0002g0192 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.204+3787G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78263733 | ||||||
| chr5:78263803
|
G | A | 2 | a0001c0004t0001g0087a0001c0004t0002g0085 | 2 | HG02809.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.204+3717C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78263803 | ||||||
| chr5:78263832
|
G | A | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.204+3688C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78263832 | ||||||
| chr5:78263838
|
C | T | 31 | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0001g0197others(28): Show | 31 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(28): Show |
intron_variant | MODIFIER | c.204+3682G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78263838 | ||||||
| chr5:78264050
|
C | T | 13 | a0001c0005t0001g0195a0001c0005t0002g0004a0001c0005t0002g0187others(10): Show | 13 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.204+3470G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78264050 | ||||||
| chr5:78264135
|
C | T | 1 | a0003c0008t0002g0035 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.204+3385G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78264135 | ||||||
| chr5:78264553
|
C | T | 31 | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0001g0197others(28): Show | 31 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(28): Show |
intron_variant | MODIFIER | c.204+2967G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78264553 | ||||||
| chr5:78264697
|
T | C | 2 | a0001c0001t0001g0102a0001c0001t0001g0103 | 2 | HG00099.hp2 HG00639.hp2 |
intron_variant | MODIFIER | c.204+2823A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78264697 | ||||||
| chr5:78264736
|
G | A | 1 | a0001c0001t0001g0217 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.204+2784C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78264736 | ||||||
| chr5:78264774
|
T | A | 2 | a0002c0003t0001g0063a0002c0003t0001g0071 | 2 | NA18973.hp2 NA19057.hp1 |
intron_variant | MODIFIER | c.204+2746A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78264774 | ||||||
| chr5:78264811
|
T | C | 30 | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0001g0197others(27): Show | 30 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(27): Show |
intron_variant | MODIFIER | c.204+2709A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78264811 | ||||||
| chr5:78265449
|
A | C | 1 | a0001c0004t0002g0006 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.204+2071T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78265449 | ||||||
| chr5:78265470
|
A | G | 1 | a0002c0003t0001g0010 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.204+2050T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78265470 | ||||||
| chr5:78265653
|
T | C | 2 | a0001c0006t0001g0113a0001c0006t0001g0114 | 2 | HG01256.hp2 HG01258.hp2 |
intron_variant | MODIFIER | c.204+1867A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78265653 | ||||||
| chr5:78266010
|
A | G | 3 | a0001c0004t0002g0001a0001c0004t0002g0002a0001c0004t0002g0003 | 3 | HG02615.hp2 HG03453.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.204+1510T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78266010 | ||||||
| chr5:78266054
|
T | C | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.204+1466A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78266054 | ||||||
| chr5:78266107
|
A | AT | 31 | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0001g0197others(28): Show | 31 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(28): Show |
intron_variant | MODIFIER | c.204+1412_204+1413i others(3): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78266107 | ||||||
| chr5:78266221
|
TAACTA | T | 4 | a0001c0001t0001g0037a0003c0008t0002g0035a0003c0008t0002g0036others(1): Show | 4 | HG03139.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.204+1294_204+1298d others(7): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78266221 | ||||||
| chr5:78266299
|
T | G | 24 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(21): Show | 24 | HG00408.hp1 HG02071.hp2 HG02074.hp2 others(21): Show |
intron_variant | MODIFIER | c.204+1221A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78266299 | ||||||
| chr5:78266358
|
T | C | 31 | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0001g0197others(28): Show | 31 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(28): Show |
intron_variant | MODIFIER | c.204+1162A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78266358 | ||||||
| chr5:78266429
|
T | A | 31 | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0001g0197others(28): Show | 31 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(28): Show |
intron_variant | MODIFIER | c.204+1091A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78266429 | ||||||
| chr5:78267081
|
C | G | 31 | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0001g0197others(28): Show | 31 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(28): Show |
intron_variant | MODIFIER | c.204+439G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78267081 | ||||||
| chr5:78267352
|
A | G | 30 | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0001g0197others(27): Show | 30 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(27): Show |
intron_variant | MODIFIER | c.204+168T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78267352 | ||||||
| chr5:78267399
|
A | G | 1 | a0001c0001t0002g0019 | 1 | NA18992.hp2 | intron_variant | MODIFIER | c.204+121T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78267399 | ||||||
| chr5:78267439
|
G | A | 60 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(57): Show | 60 | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(57): Show |
intron_variant | MODIFIER | c.204+81C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | 78267439 | ||||||
| chr5:78268473
|
A | G | 1 | a0002c0003t0001g0010 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.129-878T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78268473 | ||||||
| chr5:78268747
|
A | G | 136 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(133): Show | 136 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(133): Show |
intron_variant | MODIFIER | c.129-1152T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78268747 | ||||||
| chr5:78268963
|
T | C | 136 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(133): Show | 136 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(133): Show |
intron_variant | MODIFIER | c.129-1368A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78268963 | ||||||
| chr5:78268968
|
T | C | 2 | a0001c0001t0001g0161a0001c0001t0001g0173 | 2 | HG03516.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.129-1373A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78268968 | ||||||
| chr5:78269139
|
T | C | 31 | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0001g0197others(28): Show | 31 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(28): Show |
intron_variant | MODIFIER | c.129-1544A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78269139 | ||||||
| chr5:78269206
|
A | AC | 31 | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0001g0197others(28): Show | 31 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(28): Show |
intron_variant | MODIFIER | c.129-1612dupG | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78269206 | ||||||
| chr5:78269268
|
T | C | 1 | a0001c0002t0002g0174 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.129-1673A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78269268 | ||||||
| chr5:78269348
|
T | C | 1 | a0001c0004t0002g0186 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.129-1753A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78269348 | ||||||
| chr5:78269428
|
T | A | 1 | a0001c0001t0001g0032 | 1 | NA18978.hp1 | intron_variant | MODIFIER | c.129-1833A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78269428 | ||||||
| chr5:78269575
|
A | G | 1 | a0001c0001t0002g0027 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.129-1980T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78269575 | ||||||
| chr5:78269847
|
T | C | 1 | a0008c0011t0002g0165 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.129-2252A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78269847 | ||||||
| chr5:78269983
|
C | G | 31 | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0001g0197others(28): Show | 31 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(28): Show |
intron_variant | MODIFIER | c.129-2388G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78269983 | ||||||
| chr5:78269990
|
G | A | 25 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(22): Show | 25 | HG00408.hp1 HG01496.hp1 HG02071.hp2 others(22): Show |
intron_variant | MODIFIER | c.129-2395C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78269990 | ||||||
| chr5:78270048
|
G | C | 1 | a0001c0004t0001g0005 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.129-2453C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78270048 | ||||||
| chr5:78270084
|
G | C | 1 | a0001c0002t0002g0064 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.129-2489C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78270084 | ||||||
| chr5:78270501
|
G | A | 1 | a0001c0002t0002g0175 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.129-2906C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78270501 | ||||||
| chr5:78270505
|
G | T | 31 | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0001g0197others(28): Show | 31 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(28): Show |
intron_variant | MODIFIER | c.129-2910C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78270505 | ||||||
| chr5:78270511
|
C | T | 31 | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0001g0197others(28): Show | 31 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(28): Show |
intron_variant | MODIFIER | c.129-2916G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78270511 | ||||||
| chr5:78270522
|
T | C | 4 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(1): Show | 4 | HG02258.hp2 HG02615.hp2 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.129-2927A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78270522 | ||||||
| chr5:78270643
|
G | A | 25 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(22): Show | 25 | HG00408.hp1 HG01496.hp1 HG02071.hp2 others(22): Show |
intron_variant | MODIFIER | c.129-3048C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78270643 | ||||||
| chr5:78270915
|
C | T | 31 | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0001g0197others(28): Show | 31 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(28): Show |
intron_variant | MODIFIER | c.129-3320G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78270915 | ||||||
| chr5:78270994
|
A | C | 13 | a0001c0005t0001g0195a0001c0005t0002g0004a0001c0005t0002g0187others(10): Show | 13 | HG01168.hp1 HG02055.hp2 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.129-3399T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78270994 | ||||||
| chr5:78271022
|
G | A | 25 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(22): Show | 25 | HG00408.hp1 HG01496.hp1 HG02071.hp2 others(22): Show |
intron_variant | MODIFIER | c.129-3427C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78271022 | ||||||
| chr5:78271034
|
A | G | 31 | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0001g0197others(28): Show | 31 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(28): Show |
intron_variant | MODIFIER | c.129-3439T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78271034 | ||||||
| chr5:78271212
|
G | A | 1 | a0001c0004t0002g0006 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.129-3617C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78271212 | ||||||
| chr5:78271337
|
C | T | 1 | a0001c0001t0001g0173 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.129-3742G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78271337 | ||||||
| chr5:78271474
|
A | G | 1 | a0001c0004t0002g0006 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.129-3879T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78271474 | ||||||
| chr5:78271482
|
T | G | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.129-3887A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78271482 | ||||||
| chr5:78271550
|
G | C | 1 | a0001c0004t0002g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.129-3955C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78271550 | ||||||
| chr5:78271690
|
C | T | 31 | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0001g0197others(28): Show | 31 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(28): Show |
intron_variant | MODIFIER | c.129-4095G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78271690 | ||||||
| chr5:78272027
|
T | C | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.129-4432A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78272027 | ||||||
| chr5:78272036
|
T | C | 31 | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0001g0197others(28): Show | 31 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(28): Show |
intron_variant | MODIFIER | c.129-4441A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78272036 | ||||||
| chr5:78272093
|
C | G | 1 | a0001c0001t0001g0091 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.129-4498G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78272093 | ||||||
| chr5:78272252
|
A | T | 4 | a0001c0001t0001g0037a0003c0008t0002g0035a0003c0008t0002g0036others(1): Show | 4 | HG03139.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.129-4657T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78272252 | ||||||
| chr5:78272255
|
C | T | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.129-4660G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78272255 | ||||||
| chr5:78272282
|
G | GT | 31 | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0001g0197others(28): Show | 31 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(28): Show |
intron_variant | MODIFIER | c.129-4688_129-4687i others(3): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78272282 | ||||||
| chr5:78272751
|
GAGTT | G | 5 | a0001c0001t0001g0076a0001c0002t0001g0181a0001c0002t0001g0182others(2): Show | 5 | HG00597.hp2 HG02015.hp2 HG02630.hp1 others(2): Show |
intron_variant | MODIFIER | c.129-5160_129-5157d others(6): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78272751 | ||||||
| chr5:78272855
|
T | C | 1 | a0001c0001t0002g0011 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.129-5260A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78272855 | ||||||
| chr5:78272915
|
T | G | 1 | a0001c0012t0001g0142 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.129-5320A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78272915 | ||||||
| chr5:78273012
|
C | CATACATA others(21): Show |
32 | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0001g0122others(29): Show | 32 | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(29): Show |
intron_variant | MODIFIER | c.129-5445_129-5418d others(30): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78273012 | ||||||
| chr5:78273305
|
C | A | 1 | a0002c0003t0001g0010 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.129-5710G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78273305 | ||||||
| chr5:78273548
|
G | A | 30 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(27): Show | 30 | HG00558.hp1 HG00642.hp1 HG00642.hp2 others(27): Show |
intron_variant | MODIFIER | c.129-5953C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78273548 | ||||||
| chr5:78273770
|
C | T | 3 | a0001c0004t0002g0001a0001c0004t0002g0002a0001c0004t0002g0003 | 3 | HG02615.hp2 HG03453.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.129-6175G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78273770 | ||||||
| chr5:78273922
|
A | T | 30 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(27): Show | 30 | HG00558.hp1 HG00642.hp1 HG00642.hp2 others(27): Show |
intron_variant | MODIFIER | c.129-6327T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78273922 | ||||||
| chr5:78274009
|
C | T | 1 | a0001c0001t0001g0101 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.129-6414G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78274009 | ||||||
| chr5:78274032
|
G | GA | 34 | a0001c0001t0001g0009a0001c0001t0001g0042a0001c0001t0001g0095others(31): Show | 34 | HG00741.hp1 HG01168.hp1 HG01358.hp1 others(31): Show |
intron_variant | MODIFIER | c.129-6438dupT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78274032 | ||||||
| chr5:78274032
|
GA | G | 29 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(26): Show | 29 | HG00558.hp1 HG00642.hp1 HG01168.hp2 others(26): Show |
intron_variant | MODIFIER | c.129-6438delT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78274032 | ||||||
| chr5:78274032
|
GAA | G | 23 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(20): Show | 23 | HG00408.hp1 HG02071.hp2 HG02074.hp2 others(20): Show |
intron_variant | MODIFIER | c.129-6439_129-6438d others(4): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78274032 | ||||||
| chr5:78274126
|
G | A | 1 | a0001c0001t0001g0122 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.129-6531C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78274126 | ||||||
| chr5:78274217
|
A | T | 1 | a0001c0004t0002g0226 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.129-6622T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78274217 | ||||||
| chr5:78274258
|
T | A | 3 | a0001c0004t0002g0006a0001c0004t0002g0007a0001c0004t0002g0186 | 3 | HG02809.hp2 NA19043.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.129-6663A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78274258 | ||||||
| chr5:78274579
|
C | G | 24 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(21): Show | 24 | HG00408.hp1 HG01496.hp1 HG02071.hp2 others(21): Show |
intron_variant | MODIFIER | c.129-6984G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78274579 | ||||||
| chr5:78274704
|
A | C | 28 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(25): Show | 28 | HG00558.hp1 HG00642.hp1 HG01168.hp2 others(25): Show |
intron_variant | MODIFIER | c.129-7109T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78274704 | ||||||
| chr5:78274829
|
G | C | 54 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(51): Show | 54 | HG00408.hp1 HG00558.hp1 HG00642.hp1 others(51): Show |
intron_variant | MODIFIER | c.129-7234C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78274829 | ||||||
| chr5:78274903
|
T | G | 1 | a0001c0001t0001g0197 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.129-7308A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78274903 | ||||||
| chr5:78274914
|
C | CT | 41 | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(38): Show | 41 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(38): Show |
intron_variant | MODIFIER | c.129-7320dupA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78274914 | ||||||
| chr5:78274914
|
CT | C | 30 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(27): Show | 30 | HG00558.hp1 HG00642.hp1 HG00642.hp2 others(27): Show |
intron_variant | MODIFIER | c.129-7320delA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78274914 | ||||||
| chr5:78274922
|
T | A | 29 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(26): Show | 29 | HG00408.hp1 HG01496.hp1 HG02055.hp2 others(26): Show |
intron_variant | MODIFIER | c.129-7327A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78274922 | ||||||
| chr5:78274922
|
T | TA | 17 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0144others(14): Show | 17 | HG00741.hp1 HG01884.hp2 HG02109.hp2 others(14): Show |
intron_variant | MODIFIER | c.129-7328dupT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78274922 | ||||||
| chr5:78274932
|
G | A | 1 | a0001c0001t0002g0011 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.129-7337C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78274932 | ||||||
| chr5:78274971
|
G | A | 1 | a0001c0001t0002g0123 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.129-7376C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78274971 | ||||||
| chr5:78275481
|
C | T | 3 | a0001c0012t0001g0142a0003c0007t0002g0140a0003c0007t0002g0141 | 3 | HG02723.hp2 HG02818.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.129-7886G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78275481 | ||||||
| chr5:78275493
|
T | G | 1 | a0001c0004t0002g0006 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.129-7898A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78275493 | ||||||
| chr5:78275494
|
T | G | 11 | a0001c0001t0001g0116a0001c0001t0001g0167a0001c0001t0001g0198others(8): Show | 11 | HG01168.hp2 HG01978.hp1 HG02809.hp1 others(8): Show |
intron_variant | MODIFIER | c.129-7899A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78275494 | ||||||
| chr5:78275495
|
G | T | 34 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(31): Show | 34 | HG00408.hp1 HG00642.hp2 HG01168.hp1 others(31): Show |
intron_variant | MODIFIER | c.129-7900C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78275495 | ||||||
| chr5:78275635
|
C | T | 5 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(2): Show | 5 | HG02055.hp2 HG02258.hp2 HG02615.hp2 others(2): Show |
intron_variant | MODIFIER | c.129-8040G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78275635 | ||||||
| chr5:78275740
|
T | C | 5 | a0001c0001t0002g0093a0001c0001t0002g0094a0001c0001t0002g0117others(2): Show | 5 | HG01258.hp1 HG01346.hp1 HG01934.hp1 others(2): Show |
intron_variant | MODIFIER | c.129-8145A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78275740 | ||||||
| chr5:78275793
|
C | A | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.129-8198G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78275793 | ||||||
| chr5:78275839
|
T | C | 30 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(27): Show | 30 | HG00558.hp1 HG00642.hp1 HG00642.hp2 others(27): Show |
intron_variant | MODIFIER | c.129-8244A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78275839 | ||||||
| chr5:78275850
|
C | T | 9 | a0001c0005t0001g0195a0001c0005t0002g0187a0001c0005t0002g0188others(6): Show | 9 | HG01168.hp1 HG02280.hp1 HG02451.hp1 others(6): Show |
intron_variant | MODIFIER | c.129-8255G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78275850 | ||||||
| chr5:78275992
|
G | A | 5 | a0001c0001t0002g0012a0001c0001t0002g0018a0001c0001t0002g0020others(2): Show | 5 | NA18747.hp1 NA18961.hp2 NA18988.hp1 others(2): Show |
intron_variant | MODIFIER | c.129-8397C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78275992 | ||||||
| chr5:78275999
|
A | G | 30 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(27): Show | 30 | HG00558.hp1 HG00642.hp1 HG00642.hp2 others(27): Show |
intron_variant | MODIFIER | c.129-8404T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78275999 | ||||||
| chr5:78276024
|
A | C | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.129-8429T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78276024 | ||||||
| chr5:78276072
|
A | AT | 31 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(28): Show | 31 | HG00558.hp1 HG00642.hp1 HG00642.hp2 others(28): Show |
intron_variant | MODIFIER | c.129-8478dupA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78276072 | ||||||
| chr5:78276334
|
C | G | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.129-8739G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78276334 | ||||||
| chr5:78276480
|
C | T | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.129-8885G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78276480 | ||||||
| chr5:78276543
|
A | G | 69 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(66): Show | 69 | HG00408.hp1 HG00558.hp1 HG00642.hp1 others(66): Show |
intron_variant | MODIFIER | c.129-8948T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78276543 | ||||||
| chr5:78276563
|
T | TC | 24 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(21): Show | 24 | HG00408.hp1 HG01496.hp1 HG02071.hp2 others(21): Show |
intron_variant | MODIFIER | c.129-8969dupG | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78276563 | ||||||
| chr5:78276615
|
C | A | 30 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(27): Show | 30 | HG00558.hp1 HG00642.hp1 HG00642.hp2 others(27): Show |
intron_variant | MODIFIER | c.129-9020G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78276615 | ||||||
| chr5:78276631
|
G | A | 57 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0144others(54): Show | 57 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(54): Show |
intron_variant | MODIFIER | c.129-9036C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78276631 | ||||||
| chr5:78276704
|
C | CA | 24 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(21): Show | 24 | HG00408.hp1 HG02071.hp2 HG02074.hp2 others(21): Show |
intron_variant | MODIFIER | c.129-9110dupT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78276704 | ||||||
| chr5:78276712
|
A | C | 28 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(25): Show | 28 | HG00558.hp1 HG00642.hp1 HG00642.hp2 others(25): Show |
intron_variant | MODIFIER | c.129-9117T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78276712 | ||||||
| chr5:78276723
|
G | A | 1 | a0001c0004t0002g0226 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.129-9128C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78276723 | ||||||
| chr5:78276771
|
A | T | 28 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(25): Show | 28 | HG00558.hp1 HG00642.hp1 HG01168.hp2 others(25): Show |
intron_variant | MODIFIER | c.129-9176T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78276771 | ||||||
| chr5:78276869
|
T | TA | 24 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(21): Show | 24 | HG00408.hp1 HG01496.hp1 HG02071.hp2 others(21): Show |
intron_variant | MODIFIER | c.129-9275dupT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78276869 | ||||||
| chr5:78276869
|
T | TAA | 5 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(2): Show | 5 | HG02055.hp2 HG02258.hp2 HG02615.hp2 others(2): Show |
intron_variant | MODIFIER | c.129-9276_129-9275d others(4): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78276869 | ||||||
| chr5:78276880
|
AAAGAAG | A | 30 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(27): Show | 30 | HG00558.hp1 HG00642.hp1 HG00642.hp2 others(27): Show |
intron_variant | MODIFIER | c.129-9291_129-9286d others(8): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78276880 | ||||||
| chr5:78276972
|
G | GA | 30 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(27): Show | 30 | HG00558.hp1 HG00642.hp1 HG00642.hp2 others(27): Show |
intron_variant | MODIFIER | c.129-9378dupT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78276972 | ||||||
| chr5:78276995
|
T | C | 1 | a0001c0001t0001g0145 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.129-9400A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78276995 | ||||||
| chr5:78277191
|
G | C | 30 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(27): Show | 30 | HG00558.hp1 HG00642.hp1 HG00642.hp2 others(27): Show |
intron_variant | MODIFIER | c.129-9596C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78277191 | ||||||
| chr5:78277319
|
G | A | 5 | a0001c0001t0001g0037a0003c0008t0002g0035a0003c0008t0002g0036others(2): Show | 5 | HG01884.hp2 HG03139.hp2 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.129-9724C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78277319 | ||||||
| chr5:78277490
|
C | G | 30 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(27): Show | 30 | HG00558.hp1 HG00642.hp1 HG00642.hp2 others(27): Show |
intron_variant | MODIFIER | c.129-9895G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78277490 | ||||||
| chr5:78277794
|
C | G | 24 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(21): Show | 24 | HG00408.hp1 HG01496.hp1 HG02071.hp2 others(21): Show |
intron_variant | MODIFIER | c.129-10199G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78277794 | ||||||
| chr5:78277883
|
T | G | 5 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(2): Show | 5 | HG02055.hp2 HG02258.hp2 HG02615.hp2 others(2): Show |
intron_variant | MODIFIER | c.129-10288A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78277883 | ||||||
| chr5:78277928
|
TCATATTT others(2): Show |
T | 30 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(27): Show | 30 | HG00558.hp1 HG00642.hp1 HG00642.hp2 others(27): Show |
intron_variant | MODIFIER | c.129-10342_129-1033 others(13): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78277928 | ||||||
| chr5:78278044
|
T | G | 1 | a0001c0001t0002g0012 | 1 | NA18961.hp2 | intron_variant | MODIFIER | c.129-10449A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78278044 | ||||||
| chr5:78278141
|
T | A | 4 | a0001c0005t0002g0189a0001c0005t0002g0190a0001c0005t0002g0191others(1): Show | 4 | HG02280.hp1 HG02630.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.129-10546A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78278141 | ||||||
| chr5:78278285
|
T | C | 5 | a0001c0001t0002g0012a0001c0001t0002g0018a0001c0001t0002g0020others(2): Show | 5 | NA18747.hp1 NA18961.hp2 NA18988.hp1 others(2): Show |
intron_variant | MODIFIER | c.129-10690A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78278285 | ||||||
| chr5:78278317
|
G | T | 1 | a0001c0001t0001g0013 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.129-10722C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78278317 | ||||||
| chr5:78278342
|
AGGGGACT others(283): Show |
A | 30 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(27): Show | 30 | HG00558.hp1 HG00642.hp1 HG00642.hp2 others(27): Show |
intron_variant | MODIFIER | c.129-11037_129-1074 others(4): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78278342 | ||||||
| chr5:78278344
|
G | C | 1 | a0001c0004t0002g0006 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.129-10749C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78278344 | ||||||
| chr5:78278585
|
C | T | 3 | a0001c0001t0001g0037a0003c0008t0002g0035a0003c0008t0002g0036 | 3 | HG03139.hp2 NA18522.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.129-10990G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78278585 | ||||||
| chr5:78278598
|
C | CA | 39 | a0001c0001t0001g0082a0001c0001t0001g0122a0001c0001t0001g0145others(36): Show | 39 | HG00280.hp2 HG00597.hp2 HG00735.hp1 others(36): Show |
intron_variant | MODIFIER | c.129-11004dupT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78278598 | ||||||
| chr5:78278598
|
C | CAA | 7 | a0001c0001t0002g0093a0001c0002t0001g0184a0001c0002t0002g0146others(4): Show | 7 | HG01346.hp1 HG01981.hp1 HG02083.hp2 others(4): Show |
intron_variant | MODIFIER | c.129-11005_129-1100 others(6): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78278598 | ||||||
| chr5:78278598
|
C | CAAA | 8 | a0001c0004t0002g0186a0001c0005t0001g0195a0001c0005t0002g0187others(5): Show | 8 | HG01168.hp1 HG02280.hp1 HG02630.hp2 others(5): Show |
intron_variant | MODIFIER | c.129-11006_129-1100 others(7): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78278598 | ||||||
| chr5:78278598
|
CAAAAAAA others(3): Show |
C | 1 | a0001c0004t0002g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.129-11013_129-1100 others(14): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78278598 | ||||||
| chr5:78278625
|
AG | A | 70 | a0001c0001t0001g0075a0001c0001t0001g0076a0001c0001t0001g0082others(67): Show | 70 | HG00099.hp1 HG00099.hp2 HG00558.hp2 others(67): Show |
intron_variant | MODIFIER | c.129-11031delC | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78278625 | ||||||
| chr5:78278626
|
G | A | 53 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0144others(50): Show | 53 | HG00280.hp2 HG00597.hp2 HG00735.hp1 others(50): Show |
intron_variant | MODIFIER | c.129-11031C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78278626 | ||||||
| chr5:78278627
|
G | A | 58 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0144others(55): Show | 58 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(55): Show |
intron_variant | MODIFIER | c.129-11032C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78278627 | ||||||
| chr5:78278628
|
G | A | 10 | a0001c0001t0002g0019a0001c0001t0002g0020a0001c0001t0002g0021others(7): Show | 10 | HG02451.hp1 HG03130.hp2 HG04184.hp2 others(7): Show |
intron_variant | MODIFIER | c.129-11033C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78278628 | ||||||
| chr5:78278629
|
G | C | 1 | a0001c0002t0002g0169 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.129-11034C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78278629 | ||||||
| chr5:78278630
|
G | T | 1 | a0001c0004t0002g0007 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.129-11035C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78278630 | ||||||
| chr5:78278652
|
G | C | 1 | a0002c0003t0001g0218 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.129-11057C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78278652 | ||||||
| chr5:78278680
|
G | A | 2 | a0001c0006t0001g0124a0001c0006t0001g0125 | 2 | HG00099.hp1 HG01106.hp2 |
intron_variant | MODIFIER | c.129-11085C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78278680 | ||||||
| chr5:78278696
|
G | C | 5 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(2): Show | 5 | HG02055.hp2 HG02258.hp2 HG02615.hp2 others(2): Show |
intron_variant | MODIFIER | c.129-11101C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78278696 | ||||||
| chr5:78278736
|
G | C | 1 | a0001c0010t0002g0024 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.129-11141C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78278736 | ||||||
| chr5:78279097
|
C | G | 1 | a0001c0001t0002g0097 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.129-11502G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78279097 | ||||||
| chr5:78279142
|
A | T | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.129-11547T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78279142 | ||||||
| chr5:78279189
|
C | G | 30 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(27): Show | 30 | HG00558.hp1 HG00642.hp1 HG00642.hp2 others(27): Show |
intron_variant | MODIFIER | c.129-11594G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78279189 | ||||||
| chr5:78279192
|
G | A | 54 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0144others(51): Show | 54 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(51): Show |
intron_variant | MODIFIER | c.129-11597C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78279192 | ||||||
| chr5:78279201
|
T | G | 30 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(27): Show | 30 | HG00558.hp1 HG00642.hp1 HG00642.hp2 others(27): Show |
intron_variant | MODIFIER | c.129-11606A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78279201 | ||||||
| chr5:78279216
|
T | C | 1 | a0001c0001t0002g0011 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.129-11621A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78279216 | ||||||
| chr5:78279312
|
T | A | 129 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(126): Show | 129 | HG00280.hp2 HG00408.hp1 HG00558.hp1 others(126): Show |
intron_variant | MODIFIER | c.129-11717A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78279312 | ||||||
| chr5:78279326
|
C | T | 30 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(27): Show | 30 | HG00558.hp1 HG00642.hp1 HG00642.hp2 others(27): Show |
intron_variant | MODIFIER | c.129-11731G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78279326 | ||||||
| chr5:78279371
|
G | A | 1 | a0001c0001t0002g0027 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.129-11776C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78279371 | ||||||
| chr5:78279439
|
T | C | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.129-11844A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78279439 | ||||||
| chr5:78279507
|
GA | G | 30 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(27): Show | 30 | HG00558.hp1 HG00642.hp1 HG00642.hp2 others(27): Show |
intron_variant | MODIFIER | c.129-11913delT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78279507 | ||||||
| chr5:78279553
|
A | G | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.129-11958T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78279553 | ||||||
| chr5:78279555
|
A | G | 30 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(27): Show | 30 | HG00558.hp1 HG00642.hp1 HG00642.hp2 others(27): Show |
intron_variant | MODIFIER | c.129-11960T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78279555 | ||||||
| chr5:78279619
|
A | G | 29 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(26): Show | 29 | HG00408.hp1 HG01496.hp1 HG02055.hp2 others(26): Show |
intron_variant | MODIFIER | c.129-12024T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78279619 | ||||||
| chr5:78279673
|
C | T | 1 | a0001c0001t0001g0199 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.129-12078G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78279673 | ||||||
| chr5:78279684
|
A | G | 30 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(27): Show | 30 | HG00558.hp1 HG00642.hp1 HG00642.hp2 others(27): Show |
intron_variant | MODIFIER | c.129-12089T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78279684 | ||||||
| chr5:78279830
|
G | GTA | 29 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(26): Show | 29 | HG00558.hp1 HG00642.hp1 HG01168.hp2 others(26): Show |
intron_variant | MODIFIER | c.129-12237_129-1223 others(6): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78279830 | ||||||
| chr5:78279833
|
TATATATA others(10): Show |
T | 4 | a0001c0005t0002g0189a0001c0005t0002g0190a0001c0005t0002g0191others(1): Show | 4 | HG02280.hp1 HG02630.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.129-12255_129-1223 others(21): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78279833 | ||||||
| chr5:78279867
|
AAT | A | 29 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(26): Show | 29 | HG00408.hp1 HG01496.hp1 HG01884.hp2 others(26): Show |
intron_variant | MODIFIER | c.129-12274_129-1227 others(6): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78279867 | ||||||
| chr5:78279907
|
A | AAT | 93 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0029others(90): Show | 93 | HG00280.hp2 HG00408.hp1 HG00597.hp2 others(90): Show |
intron_variant | MODIFIER | c.129-12314_129-1231 others(6): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78279907 | ||||||
| chr5:78279907
|
A | AATAT | 5 | a0001c0001t0001g0013a0001c0001t0001g0032a0001c0002t0002g0169others(2): Show | 5 | HG02135.hp1 HG02735.hp1 HG04228.hp1 others(2): Show |
intron_variant | MODIFIER | c.129-12316_129-1231 others(8): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78279907 | ||||||
| chr5:78279907
|
A | AATATATA others(15): Show |
1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.129-12334_129-1231 others(26): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78279907 | ||||||
| chr5:78279907
|
A | AATATATA others(14): Show |
20 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(17): Show | 20 | HG00558.hp1 HG00642.hp1 HG01168.hp2 others(17): Show |
intron_variant | MODIFIER | c.129-12313_129-1231 others(25): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78279907 | ||||||
| chr5:78279907
|
A | AATATATA others(16): Show |
7 | a0001c0001t0001g0201a0001c0001t0001g0203a0001c0001t0001g0204others(4): Show | 7 | HG01256.hp1 HG01346.hp2 HG02004.hp1 others(4): Show |
intron_variant | MODIFIER | c.129-12313_129-1231 others(27): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78279907 | ||||||
| chr5:78279907
|
A | AATATATA others(18): Show |
2 | a0001c0006t0001g0223a0007c0014t0002g0196 | 2 | HG02683.hp2 HG02723.hp1 |
intron_variant | MODIFIER | c.129-12313_129-1231 others(29): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78279907 | ||||||
| chr5:78280022
|
G | A | 30 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(27): Show | 30 | HG00558.hp1 HG00642.hp1 HG00642.hp2 others(27): Show |
intron_variant | MODIFIER | c.129-12427C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78280022 | ||||||
| chr5:78280072
|
C | CA | 17 | a0001c0001t0001g0037a0001c0001t0001g0082a0001c0001t0001g0128others(14): Show | 17 | HG01168.hp1 HG01884.hp2 HG02280.hp1 others(14): Show |
intron_variant | MODIFIER | c.129-12478dupT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78280072 | ||||||
| chr5:78280072
|
C | CAAA | 29 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(26): Show | 29 | HG00558.hp1 HG00642.hp1 HG00642.hp2 others(26): Show |
intron_variant | MODIFIER | c.129-12480_129-1247 others(7): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78280072 | ||||||
| chr5:78280154
|
C | T | 1 | a0001c0002t0002g0146 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.129-12559G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78280154 | ||||||
| chr5:78280380
|
C | T | 5 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(2): Show | 5 | HG02055.hp2 HG02258.hp2 HG02615.hp2 others(2): Show |
intron_variant | MODIFIER | c.129-12785G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78280380 | ||||||
| chr5:78280422
|
G | A | 29 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(26): Show | 29 | HG00408.hp1 HG01496.hp1 HG02055.hp2 others(26): Show |
intron_variant | MODIFIER | c.129-12827C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78280422 | ||||||
| chr5:78280492
|
G | A | 5 | a0001c0001t0001g0037a0003c0008t0002g0035a0003c0008t0002g0036others(2): Show | 5 | HG01884.hp2 HG03139.hp2 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.129-12897C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78280492 | ||||||
| chr5:78280606
|
G | C | 28 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(25): Show | 28 | HG00558.hp1 HG00642.hp1 HG01168.hp2 others(25): Show |
intron_variant | MODIFIER | c.129-13011C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78280606 | ||||||
| chr5:78280683
|
A | C | 2 | a0001c0002t0001g0181a0001c0002t0001g0182 | 2 | HG00597.hp2 HG02015.hp2 |
intron_variant | MODIFIER | c.129-13088T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78280683 | ||||||
| chr5:78280683
|
AAAC | A | 30 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(27): Show | 30 | HG00558.hp1 HG00642.hp1 HG00642.hp2 others(27): Show |
intron_variant | MODIFIER | c.129-13091_129-1308 others(7): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78280683 | ||||||
| chr5:78280863
|
C | T | 30 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(27): Show | 30 | HG00558.hp1 HG00642.hp1 HG00642.hp2 others(27): Show |
intron_variant | MODIFIER | c.129-13268G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78280863 | ||||||
| chr5:78280960
|
T | C | 30 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(27): Show | 30 | HG00558.hp1 HG00642.hp1 HG00642.hp2 others(27): Show |
intron_variant | MODIFIER | c.129-13365A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78280960 | ||||||
| chr5:78280979
|
C | A | 4 | a0001c0001t0002g0025a0001c0001t0002g0026a0001c0001t0002g0027others(1): Show | 4 | NA18972.hp1 NA18973.hp1 NA18998.hp2 others(1): Show |
intron_variant | MODIFIER | c.129-13384G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78280979 | ||||||
| chr5:78280981
|
A | AT | 30 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(27): Show | 30 | HG00558.hp1 HG00642.hp1 HG00642.hp2 others(27): Show |
intron_variant | MODIFIER | c.129-13387dupA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78280981 | ||||||
| chr5:78281167
|
G | A | 1 | a0001c0001t0001g0042 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.128+13285C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78281167 | ||||||
| chr5:78281192
|
T | C | 30 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(27): Show | 30 | HG00558.hp1 HG00642.hp1 HG00642.hp2 others(27): Show |
intron_variant | MODIFIER | c.128+13260A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78281192 | ||||||
| chr5:78281207
|
G | C | 1 | a0001c0005t0002g0192 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.128+13245C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78281207 | ||||||
| chr5:78281250
|
C | T | 30 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(27): Show | 30 | HG00558.hp1 HG00642.hp1 HG00642.hp2 others(27): Show |
intron_variant | MODIFIER | c.128+13202G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78281250 | ||||||
| chr5:78281252
|
T | C | 30 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(27): Show | 30 | HG00558.hp1 HG00642.hp1 HG00642.hp2 others(27): Show |
intron_variant | MODIFIER | c.128+13200A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78281252 | ||||||
| chr5:78281262
|
C | G | 30 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(27): Show | 30 | HG00558.hp1 HG00642.hp1 HG00642.hp2 others(27): Show |
intron_variant | MODIFIER | c.128+13190G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78281262 | ||||||
| chr5:78281307
|
A | G | 30 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(27): Show | 30 | HG00558.hp1 HG00642.hp1 HG00642.hp2 others(27): Show |
intron_variant | MODIFIER | c.128+13145T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78281307 | ||||||
| chr5:78281383
|
A | G | 30 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(27): Show | 30 | HG00558.hp1 HG00642.hp1 HG00642.hp2 others(27): Show |
intron_variant | MODIFIER | c.128+13069T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78281383 | ||||||
| chr5:78281434
|
C | CA | 28 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0083others(25): Show | 28 | HG00639.hp1 HG00735.hp1 HG00735.hp2 others(25): Show |
intron_variant | MODIFIER | c.128+13017dupT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78281434 | ||||||
| chr5:78281434
|
CA | C | 36 | a0001c0001t0001g0144a0001c0001t0001g0145a0001c0001t0001g0197others(33): Show | 36 | HG00558.hp1 HG00597.hp2 HG00642.hp1 others(33): Show |
intron_variant | MODIFIER | c.128+13017delT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78281434 | ||||||
| chr5:78281449
|
A | T | 5 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(2): Show | 5 | HG02055.hp2 HG02258.hp2 HG02615.hp2 others(2): Show |
intron_variant | MODIFIER | c.128+13003T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78281449 | ||||||
| chr5:78281452
|
A | C | 1 | a0001c0002t0001g0180 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.128+13000T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78281452 | ||||||
| chr5:78281457
|
A | C | 5 | a0001c0001t0001g0037a0003c0008t0002g0035a0003c0008t0002g0036others(2): Show | 5 | HG01884.hp2 HG03139.hp2 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.128+12995T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78281457 | ||||||
| chr5:78281654
|
T | C | 30 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(27): Show | 30 | HG00558.hp1 HG00642.hp1 HG00642.hp2 others(27): Show |
intron_variant | MODIFIER | c.128+12798A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78281654 | ||||||
| chr5:78281857
|
T | C | 1 | a0001c0001t0001g0225 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.128+12595A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78281857 | ||||||
| chr5:78281882
|
G | A | 28 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(25): Show | 28 | HG00558.hp1 HG00642.hp1 HG01168.hp2 others(25): Show |
intron_variant | MODIFIER | c.128+12570C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78281882 | ||||||
| chr5:78282045
|
T | G | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.128+12407A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78282045 | ||||||
| chr5:78282248
|
C | T | 5 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(2): Show | 5 | HG02055.hp2 HG02258.hp2 HG02615.hp2 others(2): Show |
intron_variant | MODIFIER | c.128+12204G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78282248 | ||||||
| chr5:78282368
|
C | T | 24 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(21): Show | 24 | HG00408.hp1 HG01496.hp1 HG02071.hp2 others(21): Show |
intron_variant | MODIFIER | c.128+12084G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78282368 | ||||||
| chr5:78282377
|
GA | G | 28 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(25): Show | 28 | HG00558.hp1 HG00642.hp1 HG01168.hp2 others(25): Show |
intron_variant | MODIFIER | c.128+12074delT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78282377 | ||||||
| chr5:78282377
|
GAAA | G | 5 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(2): Show | 5 | HG02055.hp2 HG02258.hp2 HG02615.hp2 others(2): Show |
intron_variant | MODIFIER | c.128+12072_128+1207 others(7): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78282377 | ||||||
| chr5:78282414
|
C | T | 1 | a0002c0003t0001g0047 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.128+12038G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78282414 | ||||||
| chr5:78282505
|
C | A | 57 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0144others(54): Show | 57 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(54): Show |
intron_variant | MODIFIER | c.128+11947G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78282505 | ||||||
| chr5:78282569
|
T | C | 30 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(27): Show | 30 | HG00558.hp1 HG00642.hp1 HG00642.hp2 others(27): Show |
intron_variant | MODIFIER | c.128+11883A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78282569 | ||||||
| chr5:78282664
|
G | A | 28 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(25): Show | 28 | HG00558.hp1 HG00642.hp1 HG01168.hp2 others(25): Show |
intron_variant | MODIFIER | c.128+11788C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78282664 | ||||||
| chr5:78282740
|
G | C | 5 | a0001c0001t0001g0197a0001c0001t0001g0215a0001c0001t0001g0216others(2): Show | 5 | HG00558.hp1 HG02071.hp1 HG02523.hp1 others(2): Show |
intron_variant | MODIFIER | c.128+11712C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78282740 | ||||||
| chr5:78282848
|
C | CA | 42 | a0001c0001t0001g0032a0001c0001t0001g0197a0001c0001t0001g0198others(39): Show | 42 | HG00558.hp1 HG00642.hp1 HG01168.hp1 others(39): Show |
intron_variant | MODIFIER | c.128+11603dupT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78282848 | ||||||
| chr5:78282848
|
CAAAAAAA | C | 57 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0144others(54): Show | 57 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(54): Show |
intron_variant | MODIFIER | c.128+11597_128+1160 others(11): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78282848 | ||||||
| chr5:78283087
|
T | C | 1 | a0002c0003t0001g0045 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.128+11365A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78283087 | ||||||
| chr5:78283089
|
T | C | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.128+11363A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78283089 | ||||||
| chr5:78283144
|
G | A | 1 | a0001c0012t0001g0142 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.128+11308C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78283144 | ||||||
| chr5:78283296
|
T | C | 10 | a0001c0004t0002g0226a0001c0005t0001g0195a0001c0005t0002g0187others(7): Show | 10 | HG01168.hp1 HG02280.hp1 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.128+11156A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78283296 | ||||||
| chr5:78283374
|
G | A | 1 | a0001c0002t0002g0131 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.128+11078C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78283374 | ||||||
| chr5:78283381
|
C | T | 134 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(131): Show | 134 | HG00280.hp2 HG00408.hp1 HG00558.hp1 others(131): Show |
intron_variant | MODIFIER | c.128+11071G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78283381 | ||||||
| chr5:78283427
|
T | C | 5 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(2): Show | 5 | HG02055.hp2 HG02258.hp2 HG02615.hp2 others(2): Show |
intron_variant | MODIFIER | c.128+11025A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78283427 | ||||||
| chr5:78283463
|
C | G | 30 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(27): Show | 30 | HG00558.hp1 HG00642.hp1 HG00642.hp2 others(27): Show |
intron_variant | MODIFIER | c.128+10989G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78283463 | ||||||
| chr5:78283524
|
C | T | 5 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(2): Show | 5 | HG02055.hp2 HG02258.hp2 HG02615.hp2 others(2): Show |
intron_variant | MODIFIER | c.128+10928G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78283524 | ||||||
| chr5:78283593
|
C | T | 1 | a0001c0001t0001g0095 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.128+10859G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78283593 | ||||||
| chr5:78283826
|
CT | C | 30 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(27): Show | 30 | HG00558.hp1 HG00642.hp1 HG00642.hp2 others(27): Show |
intron_variant | MODIFIER | c.128+10625delA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78283826 | ||||||
| chr5:78283834
|
A | C | 1 | a0001c0001t0001g0197 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.128+10618T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78283834 | ||||||
| chr5:78283905
|
A | G | 24 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(21): Show | 24 | HG00408.hp1 HG01496.hp1 HG02071.hp2 others(21): Show |
intron_variant | MODIFIER | c.128+10547T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78283905 | ||||||
| chr5:78283915
|
C | G | 1 | a0001c0001t0001g0202 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.128+10537G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78283915 | ||||||
| chr5:78284113
|
T | C | 4 | a0001c0001t0001g0198a0001c0001t0001g0200a0001c0001t0001g0220others(1): Show | 4 | HG00642.hp1 HG01168.hp2 HG01358.hp2 others(1): Show |
intron_variant | MODIFIER | c.128+10339A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78284113 | ||||||
| chr5:78284257
|
T | C | 28 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(25): Show | 28 | HG00558.hp1 HG00642.hp1 HG01168.hp2 others(25): Show |
intron_variant | MODIFIER | c.128+10195A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78284257 | ||||||
| chr5:78284265
|
T | C | 28 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(25): Show | 28 | HG00558.hp1 HG00642.hp1 HG01168.hp2 others(25): Show |
intron_variant | MODIFIER | c.128+10187A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78284265 | ||||||
| chr5:78284321
|
A | T | 1 | a0002c0003t0001g0046 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.128+10131T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78284321 | ||||||
| chr5:78284374
|
G | GGTTATTC others(6): Show |
1 | a0002c0003t0001g0045 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.128+10077_128+1007 others(17): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78284374 | ||||||
| chr5:78284973
|
G | A | 3 | a0002c0003t0001g0088a0002c0003t0001g0090a0009c0016t0001g0089 | 3 | HG00597.hp1 NA18952.hp1 NA18956.hp1 |
intron_variant | MODIFIER | c.128+9479C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78284973 | ||||||
| chr5:78285080
|
T | A | 30 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(27): Show | 30 | HG00558.hp1 HG00642.hp1 HG00642.hp2 others(27): Show |
intron_variant | MODIFIER | c.128+9372A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78285080 | ||||||
| chr5:78285096
|
A | C | 30 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(27): Show | 30 | HG00558.hp1 HG00642.hp1 HG00642.hp2 others(27): Show |
intron_variant | MODIFIER | c.128+9356T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78285096 | ||||||
| chr5:78285117
|
A | C | 1 | a0001c0004t0002g0186 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.128+9335T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78285117 | ||||||
| chr5:78285118
|
G | A | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.128+9334C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78285118 | ||||||
| chr5:78285143
|
GGA | G | 28 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(25): Show | 28 | HG00558.hp1 HG00642.hp1 HG01168.hp2 others(25): Show |
intron_variant | MODIFIER | c.128+9307_128+9308d others(4): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78285143 | ||||||
| chr5:78285204
|
A | G | 30 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(27): Show | 30 | HG00558.hp1 HG00642.hp1 HG00642.hp2 others(27): Show |
intron_variant | MODIFIER | c.128+9248T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78285204 | ||||||
| chr5:78285211
|
T | C | 2 | a0001c0001t0001g0201a0001c0001t0001g0221 | 2 | HG02735.hp2 HG04228.hp2 |
intron_variant | MODIFIER | c.128+9241A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78285211 | ||||||
| chr5:78285216
|
T | A | 1 | a0001c0001t0002g0034 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.128+9236A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78285216 | ||||||
| chr5:78285248
|
C | CA | 29 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(26): Show | 29 | HG00558.hp1 HG00642.hp1 HG00642.hp2 others(26): Show |
intron_variant | MODIFIER | c.128+9203dupT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78285248 | ||||||
| chr5:78285350
|
C | A | 69 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(66): Show | 69 | HG00408.hp1 HG00558.hp1 HG00642.hp1 others(66): Show |
intron_variant | MODIFIER | c.128+9102G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78285350 | ||||||
| chr5:78285448
|
T | C | 5 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(2): Show | 5 | HG02055.hp2 HG02258.hp2 HG02615.hp2 others(2): Show |
intron_variant | MODIFIER | c.128+9004A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78285448 | ||||||
| chr5:78285590
|
C | T | 1 | a0001c0001t0002g0094 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.128+8862G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78285590 | ||||||
| chr5:78285667
|
T | TA | 134 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(131): Show | 134 | HG00280.hp2 HG00408.hp1 HG00558.hp1 others(131): Show |
intron_variant | MODIFIER | c.128+8784dupT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78285667 | ||||||
| chr5:78285764
|
A | G | 1 | a0001c0001t0001g0200 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.128+8688T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78285764 | ||||||
| chr5:78286055
|
TA | T | 5 | a0001c0004t0002g0006a0001c0004t0002g0007a0001c0004t0002g0185others(2): Show | 5 | HG00642.hp2 HG02723.hp1 HG02809.hp2 others(2): Show |
intron_variant | MODIFIER | c.128+8396delT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78286055 | ||||||
| chr5:78286064
|
T | C | 33 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(30): Show | 33 | HG00558.hp1 HG00642.hp1 HG01168.hp2 others(30): Show |
intron_variant | MODIFIER | c.128+8388A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78286064 | ||||||
| chr5:78286094
|
G | A | 1 | a0001c0004t0002g0186 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.128+8358C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78286094 | ||||||
| chr5:78286374
|
C | T | 24 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(21): Show | 24 | HG00408.hp1 HG01496.hp1 HG02071.hp2 others(21): Show |
intron_variant | MODIFIER | c.128+8078G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78286374 | ||||||
| chr5:78286389
|
T | C | 55 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0144others(52): Show | 55 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(52): Show |
intron_variant | MODIFIER | c.128+8063A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78286389 | ||||||
| chr5:78286485
|
C | T | 72 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(69): Show | 72 | HG00408.hp1 HG00558.hp1 HG00642.hp1 others(69): Show |
intron_variant | MODIFIER | c.128+7967G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78286485 | ||||||
| chr5:78286495
|
A | G | 126 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(123): Show | 126 | HG00280.hp2 HG00408.hp1 HG00558.hp1 others(123): Show |
intron_variant | MODIFIER | c.128+7957T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78286495 | ||||||
| chr5:78286601
|
C | A | 96 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(93): Show | 96 | HG00280.hp2 HG00408.hp1 HG00597.hp2 others(93): Show |
intron_variant | MODIFIER | c.128+7851G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78286601 | ||||||
| chr5:78286747
|
G | T | 131 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(128): Show | 131 | HG00280.hp2 HG00408.hp1 HG00558.hp1 others(128): Show |
intron_variant | MODIFIER | c.128+7705C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78286747 | ||||||
| chr5:78286847
|
T | A | 1 | a0001c0004t0002g0186 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.128+7605A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78286847 | ||||||
| chr5:78286868
|
C | T | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.128+7584G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78286868 | ||||||
| chr5:78286885
|
C | G | 4 | a0001c0004t0002g0006a0001c0004t0002g0007a0001c0004t0002g0186others(1): Show | 4 | HG02723.hp1 HG02809.hp2 NA19043.hp1 others(1): Show |
intron_variant | MODIFIER | c.128+7567G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78286885 | ||||||
| chr5:78286900
|
T | C | 1 | a0001c0001t0001g0199 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.128+7552A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78286900 | ||||||
| chr5:78286962
|
T | A | 1 | a0001c0002t0002g0174 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.128+7490A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78286962 | ||||||
| chr5:78286968
|
T | G | 3 | a0001c0004t0002g0006a0001c0004t0002g0007a0001c0004t0002g0186 | 3 | HG02809.hp2 NA19043.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.128+7484A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78286968 | ||||||
| chr5:78287014
|
A | C | 134 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(131): Show | 134 | HG00280.hp2 HG00408.hp1 HG00558.hp1 others(131): Show |
intron_variant | MODIFIER | c.128+7438T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78287014 | ||||||
| chr5:78287279
|
T | C | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.128+7173A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78287279 | ||||||
| chr5:78287421
|
G | C | 32 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(29): Show | 32 | HG00558.hp1 HG00642.hp1 HG01168.hp2 others(29): Show |
intron_variant | MODIFIER | c.128+7031C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78287421 | ||||||
| chr5:78287618
|
C | G | 10 | a0001c0004t0002g0226a0001c0005t0001g0195a0001c0005t0002g0187others(7): Show | 10 | HG01168.hp1 HG02280.hp1 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.128+6834G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78287618 | ||||||
| chr5:78287717
|
C | T | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.128+6735G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78287717 | ||||||
| chr5:78287750
|
T | TA | 6 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(3): Show | 6 | HG02055.hp2 HG02258.hp2 HG02615.hp2 others(3): Show |
intron_variant | MODIFIER | c.128+6701dupT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78287750 | ||||||
| chr5:78287750
|
TA | T | 94 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0037others(91): Show | 94 | HG00280.hp2 HG00558.hp1 HG00597.hp2 others(91): Show |
intron_variant | MODIFIER | c.128+6701delT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78287750 | ||||||
| chr5:78287750
|
TAA | T | 5 | a0001c0002t0002g0132a0001c0004t0002g0006a0001c0004t0002g0007others(2): Show | 5 | HG02723.hp1 HG02809.hp2 NA18956.hp2 others(2): Show |
intron_variant | MODIFIER | c.128+6700_128+6701d others(4): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78287750 | ||||||
| chr5:78287866
|
A | T | 32 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(29): Show | 32 | HG00558.hp1 HG00642.hp1 HG01168.hp2 others(29): Show |
intron_variant | MODIFIER | c.128+6586T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78287866 | ||||||
| chr5:78287902
|
A | G | 32 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(29): Show | 32 | HG00558.hp1 HG00642.hp1 HG01168.hp2 others(29): Show |
intron_variant | MODIFIER | c.128+6550T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78287902 | ||||||
| chr5:78287956
|
G | A | 134 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(131): Show | 134 | HG00280.hp2 HG00408.hp1 HG00558.hp1 others(131): Show |
intron_variant | MODIFIER | c.128+6496C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78287956 | ||||||
| chr5:78287968
|
A | T | 32 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(29): Show | 32 | HG00558.hp1 HG00642.hp1 HG01168.hp2 others(29): Show |
intron_variant | MODIFIER | c.128+6484T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78287968 | ||||||
| chr5:78287994
|
C | T | 1 | a0001c0001t0001g0225 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.128+6458G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78287994 | ||||||
| chr5:78288031
|
T | C | 1 | a0001c0001t0004g0129 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.128+6421A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78288031 | ||||||
| chr5:78288075
|
G | A | 1 | a0002c0003t0002g0031 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.128+6377C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78288075 | ||||||
| chr5:78288134
|
T | C | 1 | a0001c0006t0001g0223 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.128+6318A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78288134 | ||||||
| chr5:78288204
|
C | T | 32 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(29): Show | 32 | HG00558.hp1 HG00642.hp1 HG01168.hp2 others(29): Show |
intron_variant | MODIFIER | c.128+6248G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78288204 | ||||||
| chr5:78288327
|
A | C | 32 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(29): Show | 32 | HG00558.hp1 HG00642.hp1 HG01168.hp2 others(29): Show |
intron_variant | MODIFIER | c.128+6125T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78288327 | ||||||
| chr5:78288328
|
C | T | 134 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(131): Show | 134 | HG00280.hp2 HG00408.hp1 HG00558.hp1 others(131): Show |
intron_variant | MODIFIER | c.128+6124G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78288328 | ||||||
| chr5:78288483
|
G | A | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.128+5969C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78288483 | ||||||
| chr5:78288606
|
G | A | 32 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(29): Show | 32 | HG00558.hp1 HG00642.hp1 HG01168.hp2 others(29): Show |
intron_variant | MODIFIER | c.128+5846C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78288606 | ||||||
| chr5:78288761
|
C | T | 32 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(29): Show | 32 | HG00558.hp1 HG00642.hp1 HG01168.hp2 others(29): Show |
intron_variant | MODIFIER | c.128+5691G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78288761 | ||||||
| chr5:78288861
|
A | C | 2 | a0001c0002t0001g0138a0001c0002t0001g0139 | 2 | HG00639.hp1 HG01106.hp1 |
intron_variant | MODIFIER | c.128+5591T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78288861 | ||||||
| chr5:78288944
|
G | GA | 33 | a0001c0001t0001g0032a0001c0001t0001g0197a0001c0001t0001g0198others(30): Show | 33 | HG00558.hp1 HG00642.hp1 HG01168.hp2 others(30): Show |
intron_variant | MODIFIER | c.128+5507dupT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78288944 | ||||||
| chr5:78288944
|
GA | G | 6 | a0001c0001t0001g0037a0001c0001t0001g0042a0002c0003t0001g0041others(3): Show | 6 | HG01358.hp1 HG03139.hp2 NA18522.hp2 others(3): Show |
intron_variant | MODIFIER | c.128+5507delT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78288944 | ||||||
| chr5:78289036
|
C | CT | 32 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(29): Show | 32 | HG00558.hp1 HG00642.hp1 HG01168.hp2 others(29): Show |
intron_variant | MODIFIER | c.128+5415_128+5416i others(3): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78289036 | ||||||
| chr5:78289066
|
G | T | 32 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(29): Show | 32 | HG00558.hp1 HG00642.hp1 HG01168.hp2 others(29): Show |
intron_variant | MODIFIER | c.128+5386C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78289066 | ||||||
| chr5:78289378
|
T | A | 40 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(37): Show | 40 | HG00408.hp1 HG00642.hp2 HG01168.hp1 others(37): Show |
intron_variant | MODIFIER | c.128+5074A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78289378 | ||||||
| chr5:78289499
|
G | C | 1 | a0001c0001t0001g0091 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.128+4953C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78289499 | ||||||
| chr5:78289607
|
C | T | 6 | a0001c0002t0002g0132a0001c0002t0002g0133a0001c0002t0002g0134others(3): Show | 6 | NA18956.hp2 NA18964.hp1 NA18969.hp1 others(3): Show |
intron_variant | MODIFIER | c.128+4845G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78289607 | ||||||
| chr5:78289609
|
T | C | 23 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(20): Show | 23 | HG00408.hp1 HG02071.hp2 HG02074.hp2 others(20): Show |
intron_variant | MODIFIER | c.128+4843A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78289609 | ||||||
| chr5:78289704
|
T | C | 24 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(21): Show | 24 | HG00408.hp1 HG01496.hp1 HG02071.hp2 others(21): Show |
intron_variant | MODIFIER | c.128+4748A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78289704 | ||||||
| chr5:78289765
|
T | G | 32 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(29): Show | 32 | HG00558.hp1 HG00642.hp1 HG01168.hp2 others(29): Show |
intron_variant | MODIFIER | c.128+4687A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78289765 | ||||||
| chr5:78289817
|
C | T | 1 | a0001c0001t0001g0199 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.128+4635G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78289817 | ||||||
| chr5:78289855
|
A | G | 1 | a0001c0001t0002g0011 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.128+4597T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78289855 | ||||||
| chr5:78289952
|
A | C | 1 | a0001c0006t0001g0040 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.128+4500T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78289952 | ||||||
| chr5:78290039
|
C | G | 32 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(29): Show | 32 | HG00558.hp1 HG00642.hp1 HG01168.hp2 others(29): Show |
intron_variant | MODIFIER | c.128+4413G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78290039 | ||||||
| chr5:78290086
|
C | T | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.128+4366G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78290086 | ||||||
| chr5:78290126
|
G | A | 2 | a0001c0004t0001g0005a0001c0005t0002g0004 | 2 | HG02055.hp2 HG02258.hp2 |
intron_variant | MODIFIER | c.128+4326C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78290126 | ||||||
| chr5:78290194
|
G | A | 9 | a0001c0005t0001g0195a0001c0005t0002g0187a0001c0005t0002g0188others(6): Show | 9 | HG01168.hp1 HG02280.hp1 HG02451.hp1 others(6): Show |
intron_variant | MODIFIER | c.128+4258C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78290194 | ||||||
| chr5:78290223
|
A | G | 32 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(29): Show | 32 | HG00558.hp1 HG00642.hp1 HG01168.hp2 others(29): Show |
intron_variant | MODIFIER | c.128+4229T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78290223 | ||||||
| chr5:78290366
|
C | CA | 31 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(28): Show | 31 | HG00558.hp1 HG00642.hp1 HG01168.hp2 others(28): Show |
intron_variant | MODIFIER | c.128+4085dupT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78290366 | ||||||
| chr5:78290382
|
C | G | 32 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(29): Show | 32 | HG00558.hp1 HG00642.hp1 HG01168.hp2 others(29): Show |
intron_variant | MODIFIER | c.128+4070G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78290382 | ||||||
| chr5:78290444
|
A | C | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.128+4008T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78290444 | ||||||
| chr5:78290588
|
AG | A | 32 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(29): Show | 32 | HG00558.hp1 HG00642.hp1 HG01168.hp2 others(29): Show |
intron_variant | MODIFIER | c.128+3863delC | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78290588 | ||||||
| chr5:78290598
|
T | A | 5 | a0001c0002t0002g0175a0001c0002t0002g0176a0001c0002t0002g0177others(2): Show | 5 | HG00280.hp2 HG01070.hp1 HG02148.hp2 others(2): Show |
intron_variant | MODIFIER | c.128+3854A>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78290598 | ||||||
| chr5:78290683
|
A | G | 32 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(29): Show | 32 | HG00558.hp1 HG00642.hp1 HG01168.hp2 others(29): Show |
intron_variant | MODIFIER | c.128+3769T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78290683 | ||||||
| chr5:78290723
|
C | A | 1 | a0001c0001t0001g0225 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.128+3729G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78290723 | ||||||
| chr5:78290877
|
A | G | 32 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(29): Show | 32 | HG00558.hp1 HG00642.hp1 HG01168.hp2 others(29): Show |
intron_variant | MODIFIER | c.128+3575T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78290877 | ||||||
| chr5:78290917
|
T | C | 1 | a0001c0001t0001g0224 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.128+3535A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78290917 | ||||||
| chr5:78291039
|
C | A | 31 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(28): Show | 31 | HG00558.hp1 HG00642.hp1 HG01168.hp2 others(28): Show |
intron_variant | MODIFIER | c.128+3413G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78291039 | ||||||
| chr5:78291039
|
C | G | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.128+3413G>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78291039 | ||||||
| chr5:78291060
|
G | A | 31 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(28): Show | 31 | HG00558.hp1 HG00642.hp1 HG01168.hp2 others(28): Show |
intron_variant | MODIFIER | c.128+3392C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78291060 | ||||||
| chr5:78291136
|
A | G | 43 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(40): Show | 43 | HG00408.hp1 HG00642.hp2 HG01168.hp1 others(40): Show |
intron_variant | MODIFIER | c.128+3316T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78291136 | ||||||
| chr5:78291332
|
T | C | 1 | a0001c0005t0001g0195 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.128+3120A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78291332 | ||||||
| chr5:78291358
|
G | A | 1 | a0001c0001t0002g0033 | 1 | NA18972.hp1 | intron_variant | MODIFIER | c.128+3094C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78291358 | ||||||
| chr5:78291383
|
C | T | 1 | a0001c0004t0002g0002 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.128+3069G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78291383 | ||||||
| chr5:78291420
|
G | GA | 114 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0037others(111): Show | 114 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(111): Show |
intron_variant | MODIFIER | c.128+3031dupT | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78291420 | ||||||
| chr5:78291420
|
G | GAAAA | 26 | a0001c0001t0001g0199a0001c0001t0001g0200a0001c0001t0001g0201others(23): Show | 26 | HG00558.hp1 HG00642.hp1 HG01256.hp1 others(23): Show |
intron_variant | MODIFIER | c.128+3028_128+3031d others(6): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78291420 | ||||||
| chr5:78291493
|
T | C | 28 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(25): Show | 28 | HG00558.hp1 HG00642.hp1 HG01168.hp2 others(25): Show |
intron_variant | MODIFIER | c.128+2959A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78291493 | ||||||
| chr5:78291533
|
C | T | 2 | a0001c0005t0002g0187a0001c0005t0002g0188 | 2 | HG01168.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.128+2919G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78291533 | ||||||
| chr5:78291576
|
C | T | 2 | a0001c0004t0002g0006a0001c0004t0002g0186 | 2 | NA19043.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.128+2876G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78291576 | ||||||
| chr5:78291913
|
T | C | 5 | a0001c0002t0001g0180a0001c0002t0001g0181a0001c0002t0001g0182others(2): Show | 5 | HG00597.hp2 HG02015.hp2 NA18949.hp2 others(2): Show |
intron_variant | MODIFIER | c.128+2539A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78291913 | ||||||
| chr5:78291978
|
C | T | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.128+2474G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78291978 | ||||||
| chr5:78291982
|
T | C | 28 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(25): Show | 28 | HG00558.hp1 HG00642.hp1 HG01168.hp2 others(25): Show |
intron_variant | MODIFIER | c.128+2470A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78291982 | ||||||
| chr5:78292112
|
T | C | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.128+2340A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78292112 | ||||||
| chr5:78292199
|
C | T | 28 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(25): Show | 28 | HG00558.hp1 HG00642.hp1 HG01168.hp2 others(25): Show |
intron_variant | MODIFIER | c.128+2253G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78292199 | ||||||
| chr5:78292279
|
A | T | 1 | a0001c0004t0002g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.128+2173T>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78292279 | ||||||
| chr5:78292281
|
A | C | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.128+2171T>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78292281 | ||||||
| chr5:78292517
|
T | C | 58 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0144others(55): Show | 58 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(55): Show |
intron_variant | MODIFIER | c.128+1935A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78292517 | ||||||
| chr5:78292628
|
G | C | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.128+1824C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78292628 | ||||||
| chr5:78292629
|
T | C | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.128+1823A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78292629 | ||||||
| chr5:78292643
|
T | G | 57 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0144others(54): Show | 57 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(54): Show |
intron_variant | MODIFIER | c.128+1809A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78292643 | ||||||
| chr5:78292775
|
C | T | 1 | a0001c0004t0002g0185 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.128+1677G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78292775 | ||||||
| chr5:78292826
|
G | GT | 61 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(58): Show | 61 | HG00408.hp1 HG00558.hp1 HG00642.hp1 others(58): Show |
intron_variant | MODIFIER | c.128+1625dupA | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78292826 | ||||||
| chr5:78292826
|
G | GTT | 11 | a0001c0004t0002g0185a0001c0004t0002g0226a0001c0005t0001g0195others(8): Show | 11 | HG00642.hp2 HG01168.hp1 HG02280.hp1 others(8): Show |
intron_variant | MODIFIER | c.128+1624_128+1625d others(4): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78292826 | ||||||
| chr5:78292839
|
T | C | 10 | a0001c0004t0002g0226a0001c0005t0001g0195a0001c0005t0002g0187others(7): Show | 10 | HG01168.hp1 HG02280.hp1 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.128+1613A>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78292839 | ||||||
| chr5:78293035
|
C | T | 2 | a0001c0004t0002g0006a0002c0003t0001g0010 | 2 | HG03834.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.128+1417G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78293035 | ||||||
| chr5:78293057
|
T | G | 57 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0144others(54): Show | 57 | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(54): Show |
intron_variant | MODIFIER | c.128+1395A>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78293057 | ||||||
| chr5:78293085
|
G | T | 2 | a0001c0004t0002g0006a0001c0004t0002g0007 | 2 | HG02809.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.128+1367C>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78293085 | ||||||
| chr5:78293127
|
C | A | 28 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(25): Show | 28 | HG00558.hp1 HG00642.hp1 HG01168.hp2 others(25): Show |
intron_variant | MODIFIER | c.128+1325G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78293127 | ||||||
| chr5:78293187
|
G | A | 2 | a0001c0004t0002g0006a0001c0004t0002g0007 | 2 | HG02809.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.128+1265C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78293187 | ||||||
| chr5:78293248
|
G | A | 45 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(42): Show | 45 | HG00558.hp1 HG00642.hp1 HG00642.hp2 others(42): Show |
intron_variant | MODIFIER | c.128+1204C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78293248 | ||||||
| chr5:78293434
|
CTA | C | 2 | a0001c0001t0001g0008a0001c0001t0001g0009 | 2 | HG00741.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.128+1016_128+1017d others(4): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78293434 | ||||||
| chr5:78293477
|
C | A | 1 | a0007c0014t0002g0196 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.128+975G>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78293477 | ||||||
| chr5:78294113
|
A | G | 2 | a0001c0004t0002g0006a0001c0004t0002g0007 | 2 | HG02809.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.128+339T>C | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78294113 | ||||||
| chr5:78294168
|
TTCAA | T | 5 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(2): Show | 5 | HG02055.hp2 HG02258.hp2 HG02615.hp2 others(2): Show |
intron_variant | MODIFIER | c.128+280_128+283del others(4): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78294168 | ||||||
| chr5:78294185
|
G | C | 28 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(25): Show | 28 | HG00558.hp1 HG00642.hp1 HG01168.hp2 others(25): Show |
intron_variant | MODIFIER | c.128+267C>G | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78294185 | ||||||
| chr5:78294188
|
G | A | 1 | a0001c0001t0001g0225 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.128+264C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78294188 | ||||||
| chr5:78294199
|
G | A | 1 | a0001c0004t0002g0226 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.128+253C>T | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78294199 | ||||||
| chr5:78294361
|
C | T | 5 | a0001c0004t0001g0005a0001c0004t0002g0001a0001c0004t0002g0002others(2): Show | 5 | HG02055.hp2 HG02258.hp2 HG02615.hp2 others(2): Show |
intron_variant | MODIFIER | c.128+91G>A | AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | 78294361 |