| geneid | 256076 |
|---|---|
| ensemblid | ENSG00000172752.16 |
| hgncid | 26674 |
| symbol | COL6A5 |
| name | collagen type VI alpha 5 chain |
| refseq_nuc | NM_001278298.2 |
| refseq_prot | NP_001265227.1 |
| ensembl_nuc | ENST00000373157.9 |
| ensembl_prot | ENSP00000362250.5 |
| mane_status | MANE Select |
| chr | chr3 |
| start | 130345672 |
| end | 130484846 |
| strand | + |
| ver | v1.2 |
| region | chr3:130345672-130484846 |
| region5000 | chr3:130340672-130489846 |
| regionname0 | COL6A5_chr3_130345672_130484846 |
| regionname5000 | COL6A5_chr3_130340672_130489846 |
| 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 | 0/0 | 2590 | 45 | 2 | 17 | 14 | 3 | 9 | 10 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0002 | 0/0 | 2614 | 20 | 0 | 0 | 17 | 0 | 3 | 13 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0003 | 0/0 | 2614 | 13 | 4 | 2 | 2 | 0 | 5 | 2 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0004 | 0/1 | 2590 | 12 | 1 | 1 | 7 | 1 | 1 | 3 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0005 | 0/0 | 2614 | 10 | 0 | 0 | 8 | 0 | 2 | 7 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0006 | 0/0 | 2590 | 10 | 6 | 3 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0007 | 0/0 | 2614 | 10 | 2 | 5 | 0 | 0 | 3 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0008 | 0/0 | 2590 | 9 | 0 | 3 | 4 | 0 | 2 | 2 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0009 | 0/0 | 2590 | 8 | 0 | 3 | 4 | 0 | 1 | 3 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0010 | 0/0 | 2614 | 8 | 0 | 3 | 5 | 0 | 0 | 3 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0011 | 0/0 | 2614 | 7 | 4 | 0 | 2 | 0 | 1 | 2 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0012 | 0/0 | 2614 | 7 | 0 | 0 | 6 | 0 | 1 | 3 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0013 | 0/0 | 2614 | 6 | 0 | 1 | 1 | 1 | 3 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0014 | 0/0 | 2614 | 6 | 0 | 0 | 6 | 0 | 0 | 6 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0015 | 0/0 | 2049 | 5 | 0 | 4 | 0 | 0 | 1 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0016 | 0/0 | 2614 | 4 | 4 | 0 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0017 | 0/0 | 2614 | 4 | 0 | 0 | 4 | 0 | 0 | 4 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0018 | 0/0 | 2614 | 4 | 4 | 0 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0019 | 0/0 | 2614 | 4 | 3 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0020 | 0/0 | 2614 | 3 | 2 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0021 | 0/0 | 2614 | 3 | 0 | 0 | 3 | 0 | 0 | 2 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0022 | 0/0 | 2590 | 3 | 0 | 0 | 3 | 0 | 0 | 2 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0023 | 0/0 | 2614 | 3 | 0 | 3 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0024 | 0/0 | 2614 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0025 | 0/0 | 1562 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0026 | 0/0 | 2614 | 2 | 0 | 1 | 0 | 0 | 1 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0027 | 0/0 | 2578 | 2 | 0 | 1 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0028 | 0/0 | 2614 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0029 | 0/0 | 2614 | 2 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0030 | 0/0 | 2614 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0031 | 0/0 | 2614 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0032 | 0/0 | 2614 | 2 | 0 | 0 | 1 | 0 | 1 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0033 | 0/0 | 1183 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0034 | 0/0 | 2614 | 2 | 0 | 2 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0035 | 0/0 | 2590 | 2 | 0 | 2 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0036 | 0/0 | 2614 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0037 | 0/0 | 2614 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0038 | 0/0 | 2614 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0039 | 0/0 | 2614 | 2 | 0 | 2 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0040 | 0/0 | 2614 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0041 | 0/0 | 2614 | 2 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0042 | 0/0 | 2614 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0043 | 0/0 | 2614 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0044 | 0/0 | 2614 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0045 | 0/0 | 2614 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0046 | 0/0 | 2614 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0047 | 0/0 | 2590 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0048 | 0/0 | 1558 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0049 | 0/0 | 2271 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0050 | 1/0 | 2614 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0051 | 0/0 | 2614 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0052 | 0/0 | 2614 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0053 | 0/0 | 2614 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0054 | 0/0 | 2614 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0055 | 0/0 | 2614 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0056 | 0/0 | 2614 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0057 | 0/0 | 2614 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0058 | 0/0 | 2590 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0059 | 0/0 | 2614 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0060 | 0/0 | 2614 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0061 | 0/0 | 2614 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0062 | 0/0 | 2614 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0063 | 0/0 | 2614 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0064 | 0/0 | 2590 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0065 | 0/0 | 2590 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0066 | 0/0 | 2614 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0067 | 0/0 | 2614 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0068 | 0/0 | 2614 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0069 | 0/0 | 2590 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0070 | 0/0 | 2614 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0071 | 0/0 | 2614 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0072 | 0/0 | 2614 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0073 | 0/0 | 2614 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0074 | 0/0 | 2590 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0075 | 0/0 | 2614 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0076 | 0/0 | 2614 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0077 | 0/0 | 2614 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0078 | 0/0 | 2614 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0079 | 0/0 | 2614 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0080 | 0/0 | 2590 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0081 | 0/0 | 2590 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0082 | 0/0 | 2614 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0083 | 0/0 | 2614 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0084 | 0/0 | 2590 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0085 | 0/0 | 2614 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0086 | 0/0 | 2614 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0087 | 0/0 | 2590 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0088 | 0/0 | 2614 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0089 | 0/0 | 2614 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0090 | 0/0 | 2590 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0091 | 0/0 | 2590 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0092 | 0/0 | 2614 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| 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 | 0/0 | 7844 | 36 | 2 | 15 | 7 | 3 | 9 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0002 | 0/0 | 7845 | 17 | 0 | 0 | 15 | 0 | 2 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0003 | 0/1 | 7844 | 12 | 1 | 1 | 7 | 1 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0004 | 0/0 | 7845 | 10 | 3 | 2 | 1 | 0 | 4 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0005 | 0/0 | 7844 | 10 | 6 | 3 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0006 | 0/0 | 7845 | 10 | 0 | 0 | 8 | 0 | 2 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0007 | 0/0 | 7845 | 8 | 0 | 3 | 5 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0008 | 0/0 | 7845 | 8 | 1 | 4 | 0 | 0 | 3 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0009 | 0/0 | 7844 | 8 | 0 | 3 | 4 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0010 | 0/0 | 7844 | 7 | 0 | 1 | 4 | 0 | 2 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0011 | 0/0 | 7845 | 7 | 0 | 0 | 6 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0012 | 0/0 | 7845 | 7 | 4 | 0 | 2 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0013 | 0/0 | 7845 | 6 | 0 | 0 | 6 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0014 | 0/0 | 7844 | 6 | 0 | 0 | 6 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0015 | 0/0 | 7845 | 5 | 0 | 4 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0016 | 0/0 | 7845 | 5 | 0 | 1 | 1 | 1 | 2 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0017 | 0/0 | 7845 | 4 | 3 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0018 | 0/0 | 7845 | 4 | 4 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0019 | 0/0 | 7845 | 4 | 0 | 0 | 4 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0020 | 0/0 | 7845 | 4 | 4 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0021 | 0/0 | 7845 | 3 | 0 | 3 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0022 | 0/0 | 7845 | 3 | 3 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0023 | 0/0 | 7845 | 3 | 2 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0024 | 0/0 | 7844 | 3 | 0 | 0 | 3 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0025 | 0/0 | 7845 | 2 | 0 | 0 | 1 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0026 | 0/0 | 7844 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0027 | 0/0 | 7845 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0028 | 0/0 | 7844 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0029 | 0/0 | 7845 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0030 | 0/0 | 7845 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0031 | 0/0 | 7845 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0032 | 0/0 | 7845 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0033 | 0/0 | 7845 | 2 | 1 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0034 | 0/0 | 7845 | 2 | 0 | 0 | 1 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0035 | 0/0 | 7845 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0036 | 0/0 | 7845 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0037 | 0/0 | 7845 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0038 | 0/0 | 7845 | 2 | 0 | 1 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0039 | 0/0 | 7845 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0040 | 0/0 | 7844 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0041 | 0/0 | 7845 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0042 | 0/0 | 7845 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0043 | 0/0 | 7845 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0044 | 0/0 | 7845 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0045 | 0/0 | 7845 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0046 | 0/0 | 7845 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0047 | 0/0 | 7845 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0048 | 0/0 | 7845 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0049 | 0/0 | 7844 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0050 | 0/0 | 7845 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0051 | 0/0 | 7845 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0052 | 0/0 | 7844 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0053 | 0/0 | 7845 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0054 | 0/0 | 7845 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0055 | 0/0 | 7845 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0056 | 0/0 | 7844 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0057 | 0/0 | 7845 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0058 | 0/0 | 7845 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0059 | 0/0 | 7845 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0060 | 0/0 | 7844 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0061 | 0/0 | 7844 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0062 | 0/0 | 7845 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0063 | 0/0 | 7845 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0064 | 0/0 | 7845 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0065 | 0/0 | 7845 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0066 | 0/0 | 7845 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0067 | 0/0 | 7845 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0068 | 0/0 | 7845 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0069 | 0/0 | 7844 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0070 | 0/0 | 7845 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0071 | 0/0 | 7845 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0072 | 0/0 | 7845 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0073 | 0/0 | 7845 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0074 | 0/0 | 7845 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0075 | 0/0 | 7845 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0076 | 0/0 | 7844 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0077 | 0/0 | 7845 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0078 | 0/0 | 7844 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0079 | 0/0 | 7845 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0080 | 0/0 | 7844 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0081 | 0/0 | 7845 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0082 | 0/0 | 7844 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0083 | 0/0 | 7845 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0084 | 0/0 | 7844 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0085 | 0/0 | 7845 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0086 | 1/0 | 7845 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0087 | 0/0 | 7845 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0088 | 0/0 | 7845 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0089 | 0/0 | 7808 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0090 | 0/0 | 7808 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0091 | 0/0 | 7845 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0092 | 0/0 | 7845 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0093 | 0/0 | 7845 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0094 | 0/0 | 7845 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0095 | 0/0 | 7845 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0096 | 0/0 | 7845 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0097 | 0/0 | 7845 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0098 | 0/0 | 7845 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0099 | 0/0 | 7844 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0100 | 0/0 | 7845 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0101 | 0/0 | 7845 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0102 | 0/0 | 7845 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0103 | 0/0 | 7845 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0104 | 0/0 | 7845 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0105 | 0/0 | 7845 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0106 | 0/0 | 7844 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| c0107 | 0/0 | 7844 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| 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 | 0/0 | 1107 | 103 | 29 | 12 | 53 | 0 | 9 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| t0002 | 0/1 | 1107 | 98 | 10 | 29 | 34 | 5 | 19 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| t0003 | 0/0 | 1107 | 34 | 22 | 9 | 0 | 0 | 3 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| t0004 | 1/0 | 1125 | 10 | 1 | 0 | 7 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| t0005 | 0/0 | 1126 | 9 | 6 | 0 | 2 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| t0006 | 0/0 | 1106 | 9 | 1 | 8 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| t0007 | 0/0 | 1106 | 5 | 0 | 0 | 1 | 0 | 4 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| t0008 | 0/0 | 1106 | 5 | 1 | 1 | 3 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| t0009 | 0/0 | 1107 | 5 | 0 | 5 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| t0010 | 0/0 | 1126 | 4 | 0 | 1 | 0 | 1 | 2 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| t0011 | 0/0 | 1107 | 4 | 4 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| t0012 | 0/0 | 1107 | 2 | 1 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| t0013 | 0/0 | 1125 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| t0014 | 0/0 | 1106 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| t0015 | 0/0 | 1106 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| t0016 | 0/0 | 1107 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| 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 | 2 | 0 | 0 | 0 | 0 | 2 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0002 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0003 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0004 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0005 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0006 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0007 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0008 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0009 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0010 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0012 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0013 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0014 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0015 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0016 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0018 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0029 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0032 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0036 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0043 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0046 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0060 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0063 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0065 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0066 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0069 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0076 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0080 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0081 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0092 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0093 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0096 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0097 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0099 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0100 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0101 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0104 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0106 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0108 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0113 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0126 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0135 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0140 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0142 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0151 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0155 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0156 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0157 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0158 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0159 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0160 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0161 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0162 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0164 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0165 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0166 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0168 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0169 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0171 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0173 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0174 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0175 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0176 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0177 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0178 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0179 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0180 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0181 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0182 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0183 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0184 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0189 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0190 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0191 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0192 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0193 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0194 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0195 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0196 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0197 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0198 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0199 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0200 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0202 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0205 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0206 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0210 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0212 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0213 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0214 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0215 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0216 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0217 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0218 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0219 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0220 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0221 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0222 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0223 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0224 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0225 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0226 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0227 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0228 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0229 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0230 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0231 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0232 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0233 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0234 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0235 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0236 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0237 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0238 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0239 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0240 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0241 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0242 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0243 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0244 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0245 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0246 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0247 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0248 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0249 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0250 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0251 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0252 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0253 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0254 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0255 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0256 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0257 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0258 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0259 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0260 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0261 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0262 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0263 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0264 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0265 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0266 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0267 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0268 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0269 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0270 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0271 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0272 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0273 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0274 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0275 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0276 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0277 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0278 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0279 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0280 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0281 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| g0282 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| 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 | 0/0 | 7844 | 36 | 2 | 15 | 7 | 3 | 9 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0001c0014 | 0/0 | 7844 | 6 | 0 | 0 | 6 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0001c0040 | 0/0 | 7844 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0001c0082 | 0/0 | 7844 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0002c0002 | 0/0 | 7845 | 17 | 0 | 0 | 15 | 0 | 2 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0002c0034 | 0/0 | 7845 | 2 | 0 | 0 | 1 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0002c0047 | 0/0 | 7845 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0003c0004 | 0/0 | 7845 | 10 | 3 | 2 | 1 | 0 | 4 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0003c0025 | 0/0 | 7845 | 2 | 0 | 0 | 1 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0003c0079 | 0/0 | 7845 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0004c0003 | 0/1 | 7844 | 12 | 1 | 1 | 7 | 1 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0005c0006 | 0/0 | 7845 | 10 | 0 | 0 | 8 | 0 | 2 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0006c0005 | 0/0 | 7844 | 10 | 6 | 3 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0007c0008 | 0/0 | 7845 | 8 | 1 | 4 | 0 | 0 | 3 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0007c0064 | 0/0 | 7845 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0007c0081 | 0/0 | 7845 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0008c0010 | 0/0 | 7844 | 7 | 0 | 1 | 4 | 0 | 2 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0008c0026 | 0/0 | 7844 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0009c0009 | 0/0 | 7844 | 8 | 0 | 3 | 4 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0010c0007 | 0/0 | 7845 | 8 | 0 | 3 | 5 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0011c0012 | 0/0 | 7845 | 7 | 4 | 0 | 2 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0012c0011 | 0/0 | 7845 | 7 | 0 | 0 | 6 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0013c0016 | 0/0 | 7845 | 5 | 0 | 1 | 1 | 1 | 2 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0013c0075 | 0/0 | 7845 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0014c0013 | 0/0 | 7845 | 6 | 0 | 0 | 6 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0015c0015 | 0/0 | 7845 | 5 | 0 | 4 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0016c0020 | 0/0 | 7845 | 4 | 4 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0017c0019 | 0/0 | 7845 | 4 | 0 | 0 | 4 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0018c0018 | 0/0 | 7845 | 4 | 4 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0019c0017 | 0/0 | 7845 | 4 | 3 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0020c0023 | 0/0 | 7845 | 3 | 2 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0021c0039 | 0/0 | 7845 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0021c0096 | 0/0 | 7845 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0022c0024 | 0/0 | 7844 | 3 | 0 | 0 | 3 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0023c0021 | 0/0 | 7845 | 3 | 0 | 3 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0024c0022 | 0/0 | 7845 | 3 | 3 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0025c0041 | 0/0 | 7845 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0026c0038 | 0/0 | 7845 | 2 | 0 | 1 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0027c0089 | 0/0 | 7808 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0027c0090 | 0/0 | 7808 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0028c0036 | 0/0 | 7845 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0029c0087 | 0/0 | 7845 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0029c0088 | 0/0 | 7845 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0030c0035 | 0/0 | 7845 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0031c0037 | 0/0 | 7845 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0032c0097 | 0/0 | 7845 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0032c0100 | 0/0 | 7845 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0033c0029 | 0/0 | 7845 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0034c0027 | 0/0 | 7845 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0035c0028 | 0/0 | 7844 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0036c0030 | 0/0 | 7845 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0037c0032 | 0/0 | 7845 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0038c0043 | 0/0 | 7845 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0039c0031 | 0/0 | 7845 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0040c0042 | 0/0 | 7845 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0041c0033 | 0/0 | 7845 | 2 | 1 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0042c0103 | 0/0 | 7845 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0043c0104 | 0/0 | 7845 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0044c0105 | 0/0 | 7845 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0045c0077 | 0/0 | 7845 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0046c0083 | 0/0 | 7845 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0047c0084 | 0/0 | 7844 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0048c0099 | 0/0 | 7844 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0049c0093 | 0/0 | 7845 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0050c0086 | 1/0 | 7845 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0051c0085 | 0/0 | 7845 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0052c0101 | 0/0 | 7845 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0053c0092 | 0/0 | 7845 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0054c0091 | 0/0 | 7845 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0055c0094 | 0/0 | 7845 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0056c0095 | 0/0 | 7845 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0057c0098 | 0/0 | 7845 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0058c0107 | 0/0 | 7844 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0059c0073 | 0/0 | 7845 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0060c0074 | 0/0 | 7845 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0061c0053 | 0/0 | 7845 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0062c0054 | 0/0 | 7845 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0063c0055 | 0/0 | 7845 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0064c0061 | 0/0 | 7844 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0065c0060 | 0/0 | 7844 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0066c0057 | 0/0 | 7845 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0067c0058 | 0/0 | 7845 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0068c0059 | 0/0 | 7845 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0069c0056 | 0/0 | 7844 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0070c0070 | 0/0 | 7845 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0071c0071 | 0/0 | 7845 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0072c0072 | 0/0 | 7845 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0073c0066 | 0/0 | 7845 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0074c0106 | 0/0 | 7844 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0075c0067 | 0/0 | 7845 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0076c0068 | 0/0 | 7845 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0077c0065 | 0/0 | 7845 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0078c0062 | 0/0 | 7845 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0079c0063 | 0/0 | 7845 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0080c0069 | 0/0 | 7844 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0081c0080 | 0/0 | 7844 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0082c0045 | 0/0 | 7845 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0083c0046 | 0/0 | 7845 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0084c0049 | 0/0 | 7844 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0085c0048 | 0/0 | 7845 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0086c0050 | 0/0 | 7845 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0087c0076 | 0/0 | 7844 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0088c0051 | 0/0 | 7845 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0089c0102 | 0/0 | 7845 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0090c0052 | 0/0 | 7844 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0091c0078 | 0/0 | 7844 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0092c0044 | 0/0 | 7845 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 8950 | 2 | 0 | 0 | 1 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0001c0001t0002 | 0/0 | 8950 | 33 | 1 | 15 | 6 | 3 | 8 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0001c0001t0003 | 0/0 | 8950 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0001c0014t0002 | 0/0 | 8950 | 6 | 0 | 0 | 6 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0001c0040t0002 | 0/0 | 8950 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0001c0082t0002 | 0/0 | 8950 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0002c0002t0001 | 0/0 | 8951 | 15 | 0 | 0 | 15 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0002c0002t0002 | 0/0 | 8951 | 2 | 0 | 0 | 0 | 0 | 2 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0002c0034t0001 | 0/0 | 8951 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0002c0034t0002 | 0/0 | 8951 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0002c0047t0001 | 0/0 | 8951 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0003c0004t0001 | 0/0 | 8951 | 8 | 2 | 2 | 1 | 0 | 3 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0003c0004t0002 | 0/0 | 8951 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0003c0004t0011 | 0/0 | 8951 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0003c0025t0001 | 0/0 | 8951 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0003c0025t0002 | 0/0 | 8951 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0003c0079t0001 | 0/0 | 8951 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0004c0003t0001 | 0/0 | 8950 | 6 | 0 | 0 | 6 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0004c0003t0002 | 0/1 | 8950 | 5 | 0 | 1 | 1 | 1 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0004c0003t0003 | 0/0 | 8950 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0005c0006t0004 | 0/0 | 8969 | 7 | 0 | 0 | 7 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0005c0006t0007 | 0/0 | 8950 | 2 | 0 | 0 | 0 | 0 | 2 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0005c0006t0008 | 0/0 | 8950 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0006c0005t0001 | 0/0 | 8950 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0006c0005t0002 | 0/0 | 8950 | 5 | 3 | 2 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0006c0005t0003 | 0/0 | 8950 | 4 | 3 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0007c0008t0003 | 0/0 | 8951 | 8 | 1 | 4 | 0 | 0 | 3 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0007c0064t0006 | 0/0 | 8950 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0007c0081t0002 | 0/0 | 8951 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0008c0010t0001 | 0/0 | 8950 | 6 | 0 | 1 | 3 | 0 | 2 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0008c0010t0005 | 0/0 | 8969 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0008c0026t0009 | 0/0 | 8950 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0009c0009t0002 | 0/0 | 8950 | 8 | 0 | 3 | 4 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0010c0007t0001 | 0/0 | 8951 | 6 | 0 | 1 | 5 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0010c0007t0009 | 0/0 | 8951 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0011c0012t0001 | 0/0 | 8951 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0011c0012t0002 | 0/0 | 8951 | 2 | 0 | 0 | 1 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0011c0012t0003 | 0/0 | 8951 | 4 | 4 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0012c0011t0002 | 0/0 | 8951 | 6 | 0 | 0 | 6 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0012c0011t0005 | 0/0 | 8970 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0013c0016t0001 | 0/0 | 8951 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0013c0016t0010 | 0/0 | 8970 | 4 | 0 | 1 | 0 | 1 | 2 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0013c0075t0016 | 0/0 | 8951 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0014c0013t0001 | 0/0 | 8951 | 6 | 0 | 0 | 6 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0015c0015t0001 | 0/0 | 8951 | 3 | 0 | 3 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0015c0015t0002 | 0/0 | 8951 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0015c0015t0009 | 0/0 | 8951 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0016c0020t0001 | 0/0 | 8951 | 4 | 4 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0017c0019t0002 | 0/0 | 8951 | 4 | 0 | 0 | 4 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0018c0018t0001 | 0/0 | 8951 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0018c0018t0005 | 0/0 | 8970 | 3 | 3 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0019c0017t0001 | 0/0 | 8951 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0019c0017t0003 | 0/0 | 8951 | 3 | 2 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0020c0023t0005 | 0/0 | 8970 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0020c0023t0012 | 0/0 | 8951 | 2 | 1 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0021c0039t0001 | 0/0 | 8951 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0021c0096t0001 | 0/0 | 8951 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0022c0024t0002 | 0/0 | 8950 | 3 | 0 | 0 | 3 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0023c0021t0006 | 0/0 | 8950 | 3 | 0 | 3 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0024c0022t0001 | 0/0 | 8951 | 3 | 3 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0025c0041t0001 | 0/0 | 8951 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0026c0038t0002 | 0/0 | 8951 | 2 | 0 | 1 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0027c0089t0002 | 0/0 | 8914 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0027c0090t0002 | 0/0 | 8914 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0028c0036t0003 | 0/0 | 8951 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0029c0087t0006 | 0/0 | 8950 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0029c0088t0014 | 0/0 | 8950 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0030c0035t0001 | 0/0 | 8951 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0031c0037t0004 | 0/0 | 8969 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0031c0037t0013 | 0/0 | 8969 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0032c0097t0001 | 0/0 | 8951 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0032c0100t0002 | 0/0 | 8951 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0033c0029t0001 | 0/0 | 8951 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0034c0027t0001 | 0/0 | 8951 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0035c0028t0001 | 0/0 | 8950 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0036c0030t0002 | 0/0 | 8951 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0037c0032t0001 | 0/0 | 8951 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0037c0032t0005 | 0/0 | 8970 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0038c0043t0001 | 0/0 | 8951 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0038c0043t0003 | 0/0 | 8951 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0039c0031t0006 | 0/0 | 8950 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0040c0042t0011 | 0/0 | 8951 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0041c0033t0008 | 0/0 | 8950 | 2 | 1 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0042c0103t0002 | 0/0 | 8951 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0043c0104t0002 | 0/0 | 8951 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0044c0105t0006 | 0/0 | 8950 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0045c0077t0001 | 0/0 | 8951 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0046c0083t0001 | 0/0 | 8951 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0047c0084t0002 | 0/0 | 8950 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0048c0099t0002 | 0/0 | 8950 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0049c0093t0007 | 0/0 | 8950 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0050c0086t0004 | 1/0 | 8969 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0051c0085t0003 | 0/0 | 8951 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0052c0101t0003 | 0/0 | 8951 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0053c0092t0002 | 0/0 | 8951 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0054c0091t0015 | 0/0 | 8950 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0055c0094t0008 | 0/0 | 8950 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0056c0095t0007 | 0/0 | 8950 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0057c0098t0002 | 0/0 | 8951 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0058c0107t0003 | 0/0 | 8950 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0059c0073t0003 | 0/0 | 8951 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0060c0074t0002 | 0/0 | 8951 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0061c0053t0001 | 0/0 | 8951 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0062c0054t0001 | 0/0 | 8951 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0063c0055t0001 | 0/0 | 8951 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0064c0061t0002 | 0/0 | 8950 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0065c0060t0005 | 0/0 | 8969 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0066c0057t0008 | 0/0 | 8950 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0067c0058t0001 | 0/0 | 8951 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0068c0059t0001 | 0/0 | 8951 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0069c0056t0001 | 0/0 | 8950 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0070c0070t0003 | 0/0 | 8951 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0071c0071t0001 | 0/0 | 8951 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0072c0072t0001 | 0/0 | 8951 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0073c0066t0006 | 0/0 | 8950 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0074c0106t0003 | 0/0 | 8950 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0075c0067t0001 | 0/0 | 8951 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0076c0068t0003 | 0/0 | 8951 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0077c0065t0001 | 0/0 | 8951 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0078c0062t0003 | 0/0 | 8951 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0079c0063t0003 | 0/0 | 8951 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0080c0069t0001 | 0/0 | 8950 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0081c0080t0011 | 0/0 | 8950 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0082c0045t0001 | 0/0 | 8951 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0083c0046t0007 | 0/0 | 8950 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0084c0049t0001 | 0/0 | 8950 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0085c0048t0001 | 0/0 | 8951 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0086c0050t0001 | 0/0 | 8951 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0087c0076t0001 | 0/0 | 8950 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0088c0051t0001 | 0/0 | 8951 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0089c0102t0005 | 0/0 | 8970 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0090c0052t0003 | 0/0 | 8950 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0091c0078t0002 | 0/0 | 8950 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| a0092c0044t0004 | 0/0 | 8969 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | copy fasta | chr3 | 130340672 | 130489846 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0106 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0001c0001t0001g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0001c0001t0002g0010 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0001c0001t0002g0189 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0001c0001t0002g0190 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0001c0001t0002g0191 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0001c0001t0002g0198 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0001c0001t0002g0219 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0001c0001t0002g0220 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0001c0001t0002g0222 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0001c0001t0002g0223 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0001c0001t0002g0224 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0001c0001t0002g0225 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0001c0001t0002g0233 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0001c0001t0002g0234 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0001c0001t0002g0235 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0001c0001t0002g0237 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0001c0001t0002g0239 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0001c0001t0002g0242 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0001c0001t0002g0243 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0001c0001t0002g0244 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0001c0001t0002g0245 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0001c0001t0002g0246 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0001c0001t0002g0247 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0001c0001t0002g0251 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0001c0001t0002g0254 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0001c0001t0002g0256 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0001c0001t0002g0258 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0001c0001t0002g0259 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0001c0001t0002g0260 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0001c0001t0002g0265 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0001c0001t0002g0266 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0001c0001t0002g0268 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0001c0001t0002g0269 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0001c0001t0003g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0001c0014t0002g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0001c0014t0002g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0001c0014t0002g0238 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0001c0014t0002g0250 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0001c0014t0002g0255 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0001c0014t0002g0264 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0001c0040t0002g0240 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0001c0040t0002g0241 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0001c0082t0002g0253 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0002c0002t0001g0004 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0002c0002t0001g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0002c0002t0001g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0002c0002t0001g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0002c0002t0001g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0002c0002t0001g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0002c0002t0001g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0002c0002t0001g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0002c0002t0001g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0002c0002t0001g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0002c0002t0001g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0002c0002t0001g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0002c0002t0001g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0002c0002t0001g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0002c0002t0002g0032 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0002c0002t0002g0227 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0002c0034t0001g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0002c0034t0002g0231 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0002c0047t0001g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0003c0004t0001g0018 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0003c0004t0001g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0003c0004t0001g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0003c0004t0001g0093 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0003c0004t0001g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0003c0004t0001g0151 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0003c0004t0001g0155 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0003c0004t0001g0179 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0003c0004t0002g0221 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0003c0004t0011g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0003c0025t0001g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0003c0025t0002g0257 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0003c0079t0001g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0004c0003t0001g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0004c0003t0001g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0004c0003t0001g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0004c0003t0001g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0004c0003t0001g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0004c0003t0001g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0004c0003t0002g0193 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0004c0003t0002g0194 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0004c0003t0002g0197 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0004c0003t0002g0199 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0004c0003t0002g0236 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0004c0003t0003g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0005c0006t0004g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0005c0006t0004g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0005c0006t0004g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0005c0006t0004g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0005c0006t0004g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0005c0006t0004g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0005c0006t0004g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0005c0006t0007g0007 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0005c0006t0008g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0006c0005t0001g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0006c0005t0002g0008 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0006c0005t0002g0228 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0006c0005t0002g0230 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0006c0005t0002g0252 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0006c0005t0003g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0006c0005t0003g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0006c0005t0003g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0006c0005t0003g0081 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0007c0008t0003g0001 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0007c0008t0003g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0007c0008t0003g0063 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0007c0008t0003g0065 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0007c0008t0003g0066 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0007c0008t0003g0069 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0007c0008t0003g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0007c0064t0006g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0007c0081t0002g0262 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0008c0010t0001g0108 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0008c0010t0001g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0008c0010t0001g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0008c0010t0001g0142 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0008c0010t0001g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0008c0010t0001g0169 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0008c0010t0005g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0008c0026t0009g0164 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0008c0026t0009g0165 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0009c0009t0002g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0009c0009t0002g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0009c0009t0002g0096 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0009c0009t0002g0097 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0009c0009t0002g0100 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0009c0009t0002g0101 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0009c0009t0002g0281 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0009c0009t0002g0282 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0010c0007t0001g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0010c0007t0001g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0010c0007t0001g0140 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0010c0007t0001g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0010c0007t0001g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0010c0007t0001g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0010c0007t0009g0162 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0010c0007t0009g0166 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0011c0012t0001g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0011c0012t0002g0195 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0011c0012t0002g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0011c0012t0003g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0011c0012t0003g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0011c0012t0003g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0011c0012t0003g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0012c0011t0002g0202 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0012c0011t0002g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0012c0011t0002g0205 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0012c0011t0002g0206 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0012c0011t0002g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0012c0011t0002g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0012c0011t0005g0043 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0013c0016t0001g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0013c0016t0010g0013 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0013c0016t0010g0014 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0013c0016t0010g0015 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0013c0016t0010g0016 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0013c0075t0016g0012 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0014c0013t0001g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0014c0013t0001g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0014c0013t0001g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0014c0013t0001g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0014c0013t0001g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0014c0013t0001g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0015c0015t0001g0005 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0015c0015t0001g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0015c0015t0002g0226 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0015c0015t0009g0168 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0016c0020t0001g0171 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0016c0020t0001g0272 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0016c0020t0001g0273 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0016c0020t0001g0275 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0017c0019t0002g0009 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0017c0019t0002g0248 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0017c0019t0002g0249 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0018c0018t0001g0158 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0018c0018t0005g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0018c0018t0005g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0018c0018t0005g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0019c0017t0001g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0019c0017t0003g0277 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0019c0017t0003g0278 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0019c0017t0003g0279 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0020c0023t0005g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0020c0023t0012g0029 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0020c0023t0012g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0021c0039t0001g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0021c0039t0001g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0021c0096t0001g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0022c0024t0002g0003 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0022c0024t0002g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0023c0021t0006g0002 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0023c0021t0006g0080 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0024c0022t0001g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0024c0022t0001g0156 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0024c0022t0001g0157 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0025c0041t0001g0177 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0025c0041t0001g0178 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0026c0038t0002g0261 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0026c0038t0002g0263 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0027c0089t0002g0200 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0027c0090t0002g0280 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0028c0036t0003g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0028c0036t0003g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0029c0087t0006g0076 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0029c0088t0014g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0030c0035t0001g0217 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0030c0035t0001g0218 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0031c0037t0004g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0031c0037t0013g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0032c0097t0001g0135 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0032c0100t0002g0232 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0033c0029t0001g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0033c0029t0001g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0034c0027t0001g0006 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0035c0028t0001g0099 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0035c0028t0001g0104 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0036c0030t0002g0212 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0036c0030t0002g0213 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0037c0032t0001g0181 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0037c0032t0005g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0038c0043t0001g0183 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0038c0043t0003g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0039c0031t0006g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0039c0031t0006g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0040c0042t0011g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0040c0042t0011g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0041c0033t0008g0173 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0041c0033t0008g0174 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0042c0103t0002g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0043c0104t0002g0092 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0044c0105t0006g0214 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0045c0077t0001g0176 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0046c0083t0001g0113 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0047c0084t0002g0271 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0048c0099t0002g0229 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0049c0093t0007g0184 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0050c0086t0004g0036 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0051c0085t0003g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0052c0101t0003g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0053c0092t0002g0192 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0054c0091t0015g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0055c0094t0008g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0056c0095t0007g0196 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0057c0098t0002g0270 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0058c0107t0003g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0059c0073t0003g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0060c0074t0002g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0061c0053t0001g0175 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0062c0054t0001g0160 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0063c0055t0001g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0064c0061t0002g0267 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0065c0060t0005g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0066c0057t0008g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0067c0058t0001g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0068c0059t0001g0210 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0069c0056t0001g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0070c0070t0003g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0071c0071t0001g0180 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0072c0072t0001g0182 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0073c0066t0006g0060 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0074c0106t0003g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0075c0067t0001g0159 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0076c0068t0003g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0077c0065t0001g0161 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0078c0062t0003g0216 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0079c0063t0003g0215 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0080c0069t0001g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0081c0080t0011g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0082c0045t0001g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0083c0046t0007g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0084c0049t0001g0126 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0085c0048t0001g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0086c0050t0001g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0087c0076t0001g0274 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0088c0051t0001g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0089c0102t0005g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0090c0052t0003g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0091c0078t0002g0276 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| a0092c0044t0004g0046 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00140 | hp1 | a0001 | c0001 | t0002 | g0198 | EUR | GBR | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG00140 | hp2 | a0013 | c0016 | t0010 | g0014 | EUR | GBR | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG00280 | hp1 | a0004 | c0003 | t0002 | g0194 | EUR | FIN | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG00280 | hp2 | a0001 | c0001 | t0002 | g0224 | EUR | FIN | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG00408 | hp1 | a0001 | c0001 | t0002 | g0247 | EAS | CHS | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG00408 | hp2 | a0067 | c0058 | t0001 | g0024 | EAS | CHS | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG00438 | hp1 | a0021 | c0039 | t0001 | g0122 | EAS | CHS | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG00438 | hp2 | a0004 | c0003 | t0001 | g0022 | EAS | CHS | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG00544 | hp1 | a0008 | c0010 | t0001 | g0141 | EAS | CHS | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG00544 | hp2 | a0012 | c0011 | t0002 | g0206 | EAS | CHS | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG00597 | hp1 | a0012 | c0011 | t0002 | g0208 | EAS | CHS | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG00597 | hp2 | a0008 | c0010 | t0005 | g0045 | EAS | CHS | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG00609 | hp1 | a0032 | c0100 | t0002 | g0232 | EAS | CHS | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG00609 | hp2 | a0005 | c0006 | t0008 | g0188 | EAS | CHS | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG00621 | hp1 | a0010 | c0007 | t0001 | g0105 | EAS | CHS | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG00621 | hp2 | a0080 | c0069 | t0001 | g0134 | EAS | CHS | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG00639 | hp1 | a0019 | c0017 | t0003 | g0278 | AMR | PUR | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG00639 | hp2 | a0001 | c0001 | t0002 | g0190 | AMR | PUR | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG00642 | hp1 | a0001 | c0001 | t0002 | g0259 | AMR | PUR | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG00642 | hp2 | a0027 | c0090 | t0002 | g0280 | AMR | PUR | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG00733 | hp1 | a0070 | c0070 | t0003 | g0064 | AMR | PUR | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG00733 | hp2 | a0001 | c0001 | t0002 | g0269 | AMR | PUR | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG00735 | hp1 | a0001 | c0001 | t0002 | g0219 | AMR | PUR | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG00735 | hp2 | a0044 | c0105 | t0006 | g0214 | AMR | PUR | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG00738 | hp1 | a0001 | c0001 | t0002 | g0246 | AMR | PUR | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG00738 | hp2 | a0023 | c0021 | t0006 | g0002 | AMR | PUR | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01069 | hp1 | a0039 | c0031 | t0006 | g0068 | AMR | PUR | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01069 | hp2 | a0006 | c0005 | t0002 | g0230 | AMR | PUR | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01070 | hp1 | a0001 | c0001 | t0002 | g0010 | AMR | PUR | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01070 | hp2 | a0015 | c0015 | t0001 | g0005 | AMR | PUR | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01071 | hp1 | a0006 | c0005 | t0002 | g0228 | AMR | PUR | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01071 | hp2 | a0001 | c0001 | t0002 | g0010 | AMR | PUR | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01074 | hp1 | a0015 | c0015 | t0001 | g0005 | AMR | PUR | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01074 | hp2 | a0001 | c0001 | t0002 | g0225 | AMR | PUR | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01081 | hp1 | a0035 | c0028 | t0001 | g0099 | AMR | PUR | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01081 | hp2 | a0001 | c0001 | t0002 | g0265 | AMR | PUR | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01106 | hp1 | a0009 | c0009 | t0002 | g0100 | AMR | PUR | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01106 | hp2 | a0001 | c0001 | t0002 | g0222 | AMR | PUR | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01109 | hp1 | a0073 | c0066 | t0006 | g0060 | AMR | PUR | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01109 | hp2 | a0079 | c0063 | t0003 | g0215 | AMR | PUR | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01167 | hp1 | a0023 | c0021 | t0006 | g0080 | AMR | PUR | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01167 | hp2 | a0001 | c0001 | t0002 | g0223 | AMR | PUR | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01169 | hp1 | a0023 | c0021 | t0006 | g0002 | AMR | PUR | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01169 | hp2 | a0053 | c0092 | t0002 | g0192 | AMR | PUR | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01175 | hp1 | a0035 | c0028 | t0001 | g0104 | AMR | PUR | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01175 | hp2 | a0039 | c0031 | t0006 | g0067 | AMR | PUR | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01192 | hp1 | a0015 | c0015 | t0001 | g0125 | AMR | PUR | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01192 | hp2 | a0001 | c0001 | t0002 | g0258 | AMR | PUR | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01243 | hp1 | a0052 | c0101 | t0003 | g0061 | AMR | PUR | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01243 | hp2 | a0001 | c0001 | t0002 | g0237 | AMR | PUR | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01255 | hp1 | a0006 | c0005 | t0003 | g0081 | AMR | CLM | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01255 | hp2 | a0010 | c0007 | t0001 | g0140 | AMR | CLM | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01256 | hp1 | a0007 | c0081 | t0002 | g0262 | AMR | CLM | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01256 | hp2 | a0034 | c0027 | t0001 | g0006 | AMR | CLM | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01257 | hp1 | a0007 | c0008 | t0003 | g0063 | AMR | CLM | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01257 | hp2 | a0009 | c0009 | t0002 | g0097 | AMR | CLM | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01258 | hp1 | a0034 | c0027 | t0001 | g0006 | AMR | CLM | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01258 | hp2 | a0007 | c0008 | t0003 | g0062 | AMR | CLM | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01261 | hp1 | a0048 | c0099 | t0002 | g0229 | AMR | CLM | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01261 | hp2 | a0007 | c0008 | t0003 | g0069 | AMR | CLM | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01346 | hp1 | a0041 | c0033 | t0008 | g0174 | AMR | CLM | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01346 | hp2 | a0010 | c0007 | t0009 | g0166 | AMR | CLM | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01358 | hp1 | a0001 | c0040 | t0002 | g0241 | AMR | CLM | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01358 | hp2 | a0007 | c0008 | t0003 | g0066 | AMR | CLM | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01361 | hp1 | a0008 | c0026 | t0009 | g0164 | AMR | CLM | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01361 | hp2 | a0013 | c0016 | t0010 | g0015 | AMR | CLM | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01433 | hp1 | a0001 | c0001 | t0002 | g0234 | AMR | CLM | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01433 | hp2 | a0008 | c0026 | t0009 | g0165 | AMR | CLM | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01515 | hp1 | a0027 | c0089 | t0002 | g0200 | EUR | IBS | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01515 | hp2 | a0001 | c0001 | t0002 | g0256 | EUR | IBS | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01891 | hp1 | a0003 | c0079 | t0001 | g0107 | AFR | ACB | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01891 | hp2 | a0016 | c0020 | t0001 | g0272 | AFR | ACB | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01943 | hp1 | a0010 | c0007 | t0009 | g0162 | AMR | PEL | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01943 | hp2 | a0004 | c0003 | t0002 | g0193 | AMR | PEL | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01975 | hp1 | a0003 | c0004 | t0001 | g0018 | AMR | PEL | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01975 | hp2 | a0084 | c0049 | t0001 | g0126 | AMR | PEL | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01978 | hp1 | a0015 | c0015 | t0009 | g0168 | AMR | PEL | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01978 | hp2 | a0001 | c0040 | t0002 | g0240 | AMR | PEL | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01981 | hp1 | a0091 | c0078 | t0002 | g0276 | AMR | PEL | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01981 | hp2 | a0020 | c0023 | t0012 | g0029 | AMR | PEL | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01993 | hp1 | a0008 | c0010 | t0001 | g0142 | AMR | PEL | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01993 | hp2 | a0003 | c0004 | t0001 | g0019 | AMR | PEL | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02027 | hp1 | a0002 | c0002 | t0001 | g0129 | EAS | KHV | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02027 | hp2 | a0004 | c0003 | t0001 | g0138 | EAS | KHV | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02040 | hp1 | a0002 | c0002 | t0001 | g0128 | EAS | KHV | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02040 | hp2 | a0001 | c0014 | t0002 | g0185 | EAS | KHV | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02056 | hp1 | a0004 | c0003 | t0001 | g0026 | EAS | KHV | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02056 | hp2 | a0066 | c0057 | t0008 | g0187 | EAS | KHV | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02080 | hp1 | a0001 | c0014 | t0002 | g0255 | EAS | KHV | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02080 | hp2 | a0022 | c0024 | t0002 | g0102 | EAS | KHV | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02083 | hp1 | a0012 | c0011 | t0002 | g0203 | EAS | KHV | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02083 | hp2 | a0002 | c0002 | t0001 | g0133 | EAS | KHV | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02129 | hp1 | a0009 | c0009 | t0002 | g0281 | EAS | KHV | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02129 | hp2 | a0010 | c0007 | t0001 | g0170 | EAS | KHV | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02155 | hp1 | a0002 | c0002 | t0001 | g0103 | EAS | CDX | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02155 | hp2 | a0065 | c0060 | t0005 | g0042 | EAS | CDX | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02165 | hp1 | a0001 | c0001 | t0002 | g0244 | EAS | CDX | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02165 | hp2 | a0057 | c0098 | t0002 | g0270 | EAS | CDX | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02257 | hp1 | a0006 | c0005 | t0003 | g0041 | AFR | ACB | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02257 | hp2 | a0047 | c0084 | t0002 | g0271 | AFR | ACB | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02258 | hp1 | a0006 | c0005 | t0003 | g0017 | AFR | ACB | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02258 | hp2 | a0033 | c0029 | t0001 | g0117 | AFR | ACB | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02280 | hp1 | a0006 | c0005 | t0003 | g0039 | AFR | ACB | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02280 | hp2 | a0072 | c0072 | t0001 | g0182 | AFR | ACB | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02300 | hp1 | a0026 | c0038 | t0002 | g0263 | AMR | PEL | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02300 | hp2 | a0001 | c0001 | t0002 | g0260 | AMR | PEL | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02523 | hp1 | a0004 | c0003 | t0001 | g0207 | EAS | KHV | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02523 | hp2 | a0006 | c0005 | t0001 | g0021 | EAS | KHV | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02572 | hp1 | a0045 | c0077 | t0001 | g0176 | AFR | GWD | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02572 | hp2 | a0018 | c0018 | t0005 | g0053 | AFR | GWD | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02615 | hp1 | a0068 | c0059 | t0001 | g0210 | AFR | GWD | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02615 | hp2 | a0033 | c0029 | t0001 | g0120 | AFR | GWD | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02622 | hp1 | a0037 | c0032 | t0005 | g0057 | AFR | GWD | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02622 | hp2 | a0058 | c0107 | t0003 | g0072 | AFR | GWD | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02630 | hp1 | a0076 | c0068 | t0003 | g0052 | AFR | GWD | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02630 | hp2 | a0006 | c0005 | t0002 | g0252 | AFR | GWD | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02647 | hp1 | a0037 | c0032 | t0001 | g0181 | AFR | GWD | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02647 | hp2 | a0063 | c0055 | t0001 | g0116 | AFR | GWD | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02683 | hp1 | a0004 | c0003 | t0002 | g0197 | SAS | PJL | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02683 | hp2 | a0003 | c0025 | t0002 | g0257 | SAS | PJL | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02698 | hp1 | a0001 | c0001 | t0002 | g0189 | SAS | PJL | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02698 | hp2 | a0009 | c0009 | t0002 | g0101 | SAS | PJL | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02717 | hp1 | a0018 | c0018 | t0001 | g0158 | AFR | GWD | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02717 | hp2 | a0029 | c0088 | t0014 | g0088 | AFR | GWD | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02735 | hp1 | a0003 | c0004 | t0001 | g0093 | SAS | PJL | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02735 | hp2 | a0001 | c0001 | t0002 | g0268 | SAS | PJL | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02738 | hp1 | a0013 | c0016 | t0010 | g0016 | SAS | PJL | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02738 | hp2 | a0001 | c0001 | t0002 | g0239 | SAS | PJL | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02809 | hp1 | a0040 | c0042 | t0011 | g0090 | AFR | GWD | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02809 | hp2 | a0018 | c0018 | t0005 | g0055 | AFR | GWD | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02818 | hp1 | a0025 | c0041 | t0001 | g0178 | AFR | GWD | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02818 | hp2 | a0011 | c0012 | t0003 | g0085 | AFR | GWD | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02895 | hp1 | a0036 | c0030 | t0002 | g0213 | AFR | GWD | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02895 | hp2 | a0081 | c0080 | t0011 | g0059 | AFR | GWD | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02896 | hp1 | a0003 | c0004 | t0001 | g0155 | AFR | GWD | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02896 | hp2 | a0019 | c0017 | t0003 | g0279 | AFR | GWD | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02922 | hp1 | a0074 | c0106 | t0003 | g0078 | AFR | ESN | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02922 | hp2 | a0071 | c0071 | t0001 | g0180 | AFR | ESN | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02965 | hp1 | a0018 | c0018 | t0005 | g0054 | AFR | ESN | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02965 | hp2 | a0006 | c0005 | t0002 | g0008 | AFR | ESN | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02970 | hp1 | a0028 | c0036 | t0003 | g0075 | AFR | ESN | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02970 | hp2 | a0001 | c0001 | t0003 | g0086 | AFR | ESN | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02976 | hp1 | a0016 | c0020 | t0001 | g0171 | AFR | ESN | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02976 | hp2 | a0087 | c0076 | t0001 | g0274 | AFR | ESN | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG03017 | hp1 | a0001 | c0001 | t0002 | g0233 | SAS | PJL | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG03017 | hp2 | a0011 | c0012 | t0002 | g0195 | SAS | PJL | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG03041 | hp1 | a0030 | c0035 | t0001 | g0218 | AFR | GWD | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG03041 | hp2 | a0040 | c0042 | t0011 | g0074 | AFR | GWD | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG03098 | hp1 | a0075 | c0067 | t0001 | g0159 | AFR | MSL | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG03098 | hp2 | a0038 | c0043 | t0003 | g0079 | AFR | MSL | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG03139 | hp1 | a0011 | c0012 | t0003 | g0083 | AFR | ESN | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG03139 | hp2 | a0006 | c0005 | t0002 | g0008 | AFR | ESN | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG03195 | hp1 | a0016 | c0020 | t0001 | g0273 | AFR | ESN | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG03195 | hp2 | a0019 | c0017 | t0003 | g0277 | AFR | ESN | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG03209 | hp1 | a0051 | c0085 | t0003 | g0082 | AFR | MSL | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG03209 | hp2 | a0031 | c0037 | t0013 | g0035 | AFR | MSL | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG03225 | hp1 | a0003 | c0004 | t0011 | g0073 | AFR | MSL | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG03225 | hp2 | a0020 | c0023 | t0012 | g0030 | AFR | MSL | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG03239 | hp1 | a0049 | c0093 | t0007 | g0184 | SAS | PJL | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG03239 | hp2 | a0003 | c0004 | t0002 | g0221 | SAS | PJL | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG03453 | hp1 | a0016 | c0020 | t0001 | g0275 | AFR | MSL | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG03453 | hp2 | a0030 | c0035 | t0001 | g0217 | AFR | MSL | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG03486 | hp1 | a0061 | c0053 | t0001 | g0175 | AFR | MSL | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG03486 | hp2 | a0024 | c0022 | t0001 | g0157 | AFR | MSL | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG03490 | hp1 | a0005 | c0006 | t0007 | g0007 | SAS | PJL | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG03490 | hp2 | a0026 | c0038 | t0002 | g0261 | SAS | PJL | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG03491 | hp1 | a0007 | c0008 | t0003 | g0001 | SAS | PJL | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG03491 | hp2 | a0008 | c0010 | t0001 | g0169 | SAS | PJL | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG03492 | hp1 | a0007 | c0008 | t0003 | g0001 | SAS | PJL | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG03492 | hp2 | a0005 | c0006 | t0007 | g0007 | SAS | PJL | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG03516 | hp1 | a0024 | c0022 | t0001 | g0156 | AFR | ESN | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG03516 | hp2 | a0020 | c0023 | t0005 | g0058 | AFR | ESN | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG03540 | hp1 | a0090 | c0052 | t0003 | g0011 | AFR | GWD | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG03540 | hp2 | a0007 | c0008 | t0003 | g0070 | AFR | GWD | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG03579 | hp1 | a0011 | c0012 | t0003 | g0089 | AFR | MSL | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG03579 | hp2 | a0054 | c0091 | t0015 | g0031 | AFR | MSL | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG03654 | hp1 | a0064 | c0061 | t0002 | g0267 | SAS | PJL | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG03654 | hp2 | a0032 | c0097 | t0001 | g0135 | SAS | PJL | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG03669 | hp1 | a0092 | c0044 | t0004 | g0046 | SAS | PJL | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG03669 | hp2 | a0001 | c0001 | t0001 | g0106 | SAS | PJL | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG03688 | hp1 | a0046 | c0083 | t0001 | g0113 | SAS | STU | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG03688 | hp2 | a0002 | c0034 | t0002 | g0231 | SAS | STU | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG03704 | hp1 | a0056 | c0095 | t0007 | g0196 | SAS | PJL | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG03704 | hp2 | a0001 | c0001 | t0002 | g0266 | SAS | PJL | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG03710 | hp1 | a0001 | c0001 | t0002 | g0191 | SAS | PJL | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG03710 | hp2 | a0002 | c0002 | t0002 | g0032 | SAS | PJL | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG03831 | hp1 | a0003 | c0004 | t0001 | g0151 | SAS | BEB | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG03831 | hp2 | a0013 | c0075 | t0016 | g0012 | SAS | BEB | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG03834 | hp1 | a0062 | c0054 | t0001 | g0160 | SAS | BEB | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG03834 | hp2 | a0013 | c0016 | t0010 | g0013 | SAS | BEB | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG03942 | hp1 | a0015 | c0015 | t0002 | g0226 | SAS | BEB | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG03942 | hp2 | a0012 | c0011 | t0005 | g0043 | SAS | BEB | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG04184 | hp1 | a0003 | c0004 | t0001 | g0179 | SAS | BEB | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG04184 | hp2 | a0002 | c0002 | t0002 | g0227 | SAS | BEB | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG04199 | hp1 | a0001 | c0001 | t0002 | g0220 | SAS | STU | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG04199 | hp2 | a0008 | c0010 | t0001 | g0108 | SAS | STU | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG04204 | hp1 | a0007 | c0008 | t0003 | g0065 | SAS | STU | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG04204 | hp2 | a0001 | c0001 | t0002 | g0242 | SAS | STU | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA18522 | hp1 | a0011 | c0012 | t0003 | g0084 | AFR | YRI | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA18522 | hp2 | a0003 | c0004 | t0001 | g0020 | AFR | YRI | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA18906 | hp1 | a0004 | c0003 | t0003 | g0087 | AFR | YRI | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA18906 | hp2 | a0060 | c0074 | t0002 | g0034 | AFR | YRI | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA18947 | hp1 | a0002 | c0047 | t0001 | g0111 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA18947 | hp2 | a0005 | c0006 | t0004 | g0050 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA18950 | hp1 | a0055 | c0094 | t0008 | g0112 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA18950 | hp2 | a0003 | c0004 | t0001 | g0147 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA18952 | hp1 | a0010 | c0007 | t0001 | g0167 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA18952 | hp2 | a0001 | c0001 | t0002 | g0243 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA18954 | hp1 | a0086 | c0050 | t0001 | g0132 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA18954 | hp2 | a0001 | c0014 | t0002 | g0264 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA18972 | hp1 | a0085 | c0048 | t0001 | g0025 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA18972 | hp2 | a0001 | c0014 | t0002 | g0238 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA18975 | hp1 | a0017 | c0019 | t0002 | g0248 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA18975 | hp2 | a0002 | c0002 | t0001 | g0121 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA18980 | hp1 | a0011 | c0012 | t0002 | g0204 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA18980 | hp2 | a0003 | c0025 | t0001 | g0124 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA18982 | hp1 | a0014 | c0013 | t0001 | g0146 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA18982 | hp2 | a0022 | c0024 | t0002 | g0003 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA18984 | hp1 | a0008 | c0010 | t0001 | g0149 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA18984 | hp2 | a0021 | c0096 | t0001 | g0109 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA18989 | hp1 | a0002 | c0002 | t0001 | g0130 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA18989 | hp2 | a0014 | c0013 | t0001 | g0143 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA18990 | hp1 | a0004 | c0003 | t0001 | g0027 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA18990 | hp2 | a0002 | c0002 | t0001 | g0211 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA18992 | hp1 | a0069 | c0056 | t0001 | g0114 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA18992 | hp2 | a0005 | c0006 | t0004 | g0049 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA18995 | hp1 | a0014 | c0013 | t0001 | g0115 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA18995 | hp2 | a0021 | c0039 | t0001 | g0139 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA19001 | hp1 | a0017 | c0019 | t0002 | g0249 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA19001 | hp2 | a0009 | c0009 | t0002 | g0282 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA19002 | hp1 | a0010 | c0007 | t0001 | g0163 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA19002 | hp2 | a0022 | c0024 | t0002 | g0003 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA19003 | hp1 | a0002 | c0034 | t0001 | g0154 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA19003 | hp2 | a0001 | c0001 | t0002 | g0245 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA19004 | hp1 | a0002 | c0002 | t0001 | g0131 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA19004 | hp2 | a0005 | c0006 | t0004 | g0048 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA19005 | hp1 | a0014 | c0013 | t0001 | g0098 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA19005 | hp2 | a0012 | c0011 | t0002 | g0209 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA19010 | hp1 | a0002 | c0002 | t0001 | g0123 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA19010 | hp2 | a0017 | c0019 | t0002 | g0009 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA19030 | hp1 | a0007 | c0064 | t0006 | g0038 | AFR | LWK | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA19030 | hp2 | a0043 | c0104 | t0002 | g0092 | AFR | LWK | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA19055 | hp1 | a0088 | c0051 | t0001 | g0137 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA19055 | hp2 | a0001 | c0014 | t0002 | g0250 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA19056 | hp1 | a0002 | c0002 | t0001 | g0127 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA19056 | hp2 | a0009 | c0009 | t0002 | g0094 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA19060 | hp1 | a0001 | c0001 | t0001 | g0186 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA19060 | hp2 | a0082 | c0045 | t0001 | g0118 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA19062 | hp1 | a0013 | c0016 | t0001 | g0144 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA19062 | hp2 | a0005 | c0006 | t0004 | g0071 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA19063 | hp1 | a0005 | c0006 | t0004 | g0044 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA19063 | hp2 | a0009 | c0009 | t0002 | g0095 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA19065 | hp1 | a0005 | c0006 | t0004 | g0047 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA19065 | hp2 | a0002 | c0002 | t0001 | g0004 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA19066 | hp1 | a0002 | c0002 | t0001 | g0150 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA19066 | hp2 | a0017 | c0019 | t0002 | g0009 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA19068 | hp1 | a0012 | c0011 | t0002 | g0202 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA19068 | hp2 | a0005 | c0006 | t0004 | g0051 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA19070 | hp1 | a0001 | c0001 | t0002 | g0251 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA19070 | hp2 | a0002 | c0002 | t0001 | g0004 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA19077 | hp1 | a0011 | c0012 | t0001 | g0023 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA19077 | hp2 | a0001 | c0014 | t0002 | g0201 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA19080 | hp1 | a0014 | c0013 | t0001 | g0145 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA19080 | hp2 | a0012 | c0011 | t0002 | g0205 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA19081 | hp1 | a0002 | c0002 | t0001 | g0172 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA19081 | hp2 | a0001 | c0001 | t0002 | g0254 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA19083 | hp1 | a0014 | c0013 | t0001 | g0148 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA19083 | hp2 | a0004 | c0003 | t0001 | g0028 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA19085 | hp1 | a0001 | c0082 | t0002 | g0253 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA19085 | hp2 | a0010 | c0007 | t0001 | g0136 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA19091 | hp1 | a0002 | c0002 | t0001 | g0110 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA19091 | hp2 | a0008 | c0010 | t0001 | g0119 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA19240 | hp1 | a0077 | c0065 | t0001 | g0161 | AFR | YRI | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA19240 | hp2 | a0031 | c0037 | t0004 | g0037 | AFR | YRI | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA20129 | hp1 | a0025 | c0041 | t0001 | g0177 | AFR | ASW | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA20129 | hp2 | a0024 | c0022 | t0001 | g0152 | AFR | ASW | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01123 | hp1 | a0029 | c0087 | t0006 | g0076 | AMR | CLM | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG01123 | hp2 | a0009 | c0009 | t0002 | g0096 | AMR | CLM | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02109 | hp1 | a0059 | c0073 | t0003 | g0040 | AFR | ACB | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG02109 | hp2 | a0089 | c0102 | t0005 | g0056 | AFR | ACB | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG03471 | hp1 | a0038 | c0043 | t0001 | g0183 | AFR | MSL | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG03471 | hp2 | a0036 | c0030 | t0002 | g0212 | AFR | MSL | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG06807 | hp1 | a0042 | c0103 | t0002 | g0091 | AFR | USA | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| HG06807 | hp2 | a0028 | c0036 | t0003 | g0077 | AFR | USA | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA18955 | hp1 | a0083 | c0046 | t0007 | g0033 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA18955 | hp2 | a0004 | c0003 | t0002 | g0236 | EAS | JPT | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA20300 | hp1 | a0019 | c0017 | t0001 | g0153 | AFR | USA | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA20300 | hp2 | a0001 | c0001 | t0002 | g0235 | AFR | USA | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA21309 | hp1 | a0078 | c0062 | t0003 | g0216 | AFR | LWK | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| NA21309 | hp2 | a0041 | c0033 | t0008 | g0173 | AFR | LWK | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| homoSapiens_chm13v2 | hp1 | a0004 | c0003 | t0002 | g0199 | REF | REF | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| homoSapiens_grch38 | hp1 | a0050 | c0086 | t0004 | g0036 | REF | REF | COL6A5_chr3_130340672_130489846 | COL6A5 | chr3 | 130340672 | 130489846 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr3:130376383
|
G | A | 1 | a0092 | 1 | HG03669.hp1 | missense_variant | MODERATE | c.214G>A | p.Ala72Thr | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 3/41 | 552/8969 | 214/7845 | 72/2614 | chr3 | 130376383 | ||
| chr3:130376755
|
A | G | 5 | a0016a0025a0042others(2): Show | 9 | HG00735.hp2 HG01891.hp2 HG02818.hp1 others(6): Show |
missense_variant | MODERATE | c.586A>G | p.Ser196Gly | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 3/41 | 924/8969 | 586/7845 | 196/2614 | chr3 | 130376755 | ||
| chr3:130379625
|
G | A | 1 | a0045 | 1 | HG02572.hp1 | missense_variant | MODERATE | c.875G>A | p.Ser292Asn | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 4/41 | 1213/8969 | 875/7845 | 292/2614 | chr3 | 130379625 | ||
| chr3:130379966
|
A | C | 2 | a0042a0043 | 2 | HG06807.hp1 NA19030.hp2 |
missense_variant | MODERATE | c.1216A>C | p.Ser406Arg | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 4/41 | 1554/8969 | 1216/7845 | 406/2614 | chr3 | 130379966 | ||
| chr3:130379975
|
T | C | 1 | a0091 | 1 | HG01981.hp1 | missense_variant | MODERATE | c.1225T>C | p.Phe409Leu | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 4/41 | 1563/8969 | 1225/7845 | 409/2614 | chr3 | 130379975 | ||
| chr3:130384866
|
G | A | 58 | a0002a0003a0007others(55): Show | 150 | HG00140.hp2 HG00408.hp2 HG00544.hp1 others(147): Show |
missense_variant | MODERATE | c.1363G>A | p.Glu455Lys | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 5/41 | 1701/8969 | 1363/7845 | 455/2614 | chr3 | 130384866 | ||
| chr3:130385284
|
A | C | 1 | a0058 | 1 | HG02622.hp2 | missense_variant | MODERATE | c.1781A>C | p.Glu594Ala | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 5/41 | 2119/8969 | 1781/7845 | 594/2614 | chr3 | 130385284 | ||
| chr3:130388639
|
A | C | 2 | a0059a0060 | 2 | HG02109.hp1 NA18906.hp2 |
missense_variant | MODERATE | c.1921A>C | p.Asn641His | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 6/41 | 2259/8969 | 1921/7845 | 641/2614 | chr3 | 130388639 | ||
| chr3:130388973
|
G | A | 1 | a0046 | 1 | HG03688.hp1 | missense_variant | MODERATE | c.2255G>A | p.Arg752Gln | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 6/41 | 2593/8969 | 2255/7845 | 752/2614 | chr3 | 130388973 | ||
| chr3:130389044
|
G | A | 1 | a0090 | 1 | HG03540.hp1 | missense_variant | MODERATE | c.2326G>A | p.Gly776Arg | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 6/41 | 2664/8969 | 2326/7845 | 776/2614 | chr3 | 130389044 | ||
| chr3:130391448
|
G | T | 2 | a0042a0043 | 2 | HG06807.hp1 NA19030.hp2 |
missense_variant | MODERATE | c.2686G>T | p.Ala896Ser | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 7/41 | 3024/8969 | 2686/7845 | 896/2614 | chr3 | 130391448 | ||
| chr3:130391596
|
G | C | 1 | a0047 | 1 | HG02257.hp2 | missense_variant | MODERATE | c.2834G>C | p.Gly945Ala | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 7/41 | 3172/8969 | 2834/7845 | 945/2614 | chr3 | 130391596 | ||
| chr3:130391707
|
A | G | 54 | a0002a0003a0007others(51): Show | 142 | HG00408.hp2 HG00438.hp1 HG00544.hp1 others(139): Show |
missense_variant | MODERATE | c.2945A>G | p.Asp982Gly | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 7/41 | 3283/8969 | 2945/7845 | 982/2614 | chr3 | 130391707 | ||
| chr3:130395189
|
C | T | 1 | a0022 | 3 | HG02080.hp2 NA18982.hp2 NA19002.hp2 |
missense_variant | MODERATE | c.3292C>T | p.His1098Tyr | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 8/41 | 3630/8969 | 3292/7845 | 1098/2614 | chr3 | 130395189 | ||
| chr3:130395190
|
A | G | 1 | a0089 | 1 | HG02109.hp2 | missense_variant | MODERATE | c.3293A>G | p.His1098Arg | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 8/41 | 3631/8969 | 3293/7845 | 1098/2614 | chr3 | 130395190 | ||
| chr3:130395239
|
C | G | 13 | a0002a0010a0015others(10): Show | 45 | HG00609.hp1 HG00621.hp1 HG01070.hp2 others(42): Show |
missense_variant | MODERATE | c.3342C>G | p.Ile1114Met | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 8/41 | 3680/8969 | 3342/7845 | 1114/2614 | chr3 | 130395239 | ||
| chr3:130395250
|
A | G | 1 | a0088 | 1 | NA19055.hp1 | missense_variant | MODERATE | c.3353A>G | p.Asp1118Gly | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 8/41 | 3691/8969 | 3353/7845 | 1118/2614 | chr3 | 130395250 | ||
| chr3:130395282
|
A | C | 1 | a0058 | 1 | HG02622.hp2 | missense_variant | MODERATE | c.3385A>C | p.Thr1129Pro | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 8/41 | 3723/8969 | 3385/7845 | 1129/2614 | chr3 | 130395282 | ||
| chr3:130395447
|
C | T | 1 | a0033 | 2 | HG02258.hp2 HG02615.hp2 |
stop_gained | HIGH | c.3550C>T | p.Gln1184* | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 8/41 | 3888/8969 | 3550/7845 | 1184/2614 | chr3 | 130395447 | ||
| chr3:130397783
|
C | T | 1 | a0055 | 1 | NA18950.hp1 | missense_variant | MODERATE | c.3769C>T | p.Pro1257Ser | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 9/41 | 4107/8969 | 3769/7845 | 1257/2614 | chr3 | 130397783 | ||
| chr3:130397840
|
G | A | 14 | a0003a0008a0014others(11): Show | 42 | HG00408.hp2 HG00544.hp1 HG00597.hp2 others(39): Show |
missense_variant | MODERATE | c.3826G>A | p.Val1276Ile | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 9/41 | 4164/8969 | 3826/7845 | 1276/2614 | chr3 | 130397840 | ||
| chr3:130397852
|
A | C | 9 | a0001a0017a0026others(6): Show | 59 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(56): Show |
missense_variant | MODERATE | c.3838A>C | p.Thr1280Pro | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 9/41 | 4176/8969 | 3838/7845 | 1280/2614 | chr3 | 130397852 | ||
| chr3:130401820
|
G | A | 1 | a0034 | 2 | HG01256.hp2 HG01258.hp1 |
missense_variant | MODERATE | c.4193G>A | p.Gly1398Glu | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 12/41 | 4531/8969 | 4193/7845 | 1398/2614 | chr3 | 130401820 | ||
| chr3:130403649
|
A | G | 2 | a0020a0054 | 4 | HG01981.hp2 HG03225.hp2 HG03516.hp2 others(1): Show |
missense_variant | MODERATE | c.4268A>G | p.Glu1423Gly | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 13/41 | 4606/8969 | 4268/7845 | 1423/2614 | chr3 | 130403649 | ||
| chr3:130405625
|
G | A | 3 | a0037a0071a0072 | 4 | HG02280.hp2 HG02622.hp1 HG02647.hp1 others(1): Show |
missense_variant | MODERATE | c.4319G>A | p.Gly1440Glu | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 14/41 | 4657/8969 | 4319/7845 | 1440/2614 | chr3 | 130405625 | ||
| chr3:130406152
|
A | T | 1 | a0064 | 1 | HG03654.hp1 | missense_variant | MODERATE | c.4402A>T | p.Ile1468Phe | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 16/41 | 4740/8969 | 4402/7845 | 1468/2614 | chr3 | 130406152 | ||
| chr3:130406272
|
G | C | 16 | a0001a0006a0013others(13): Show | 82 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(79): Show |
missense_variant | MODERATE | c.4430G>C | p.Cys1477Ser | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 17/41 | 4768/8969 | 4430/7845 | 1477/2614 | chr3 | 130406272 | ||
| chr3:130410478
|
G | C | 16 | a0007a0009a0013others(13): Show | 48 | HG00140.hp2 HG00438.hp1 HG00733.hp1 others(45): Show |
missense_variant | MODERATE | c.4616G>C | p.Ser1539Thr | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 20/41 | 4954/8969 | 4616/7845 | 1539/2614 | chr3 | 130410478 | ||
| chr3:130413180
|
CTCCCATG others(873): Show |
C | 1 | a0027 | 2 | HG00642.hp2 HG01515.hp1 |
exon_loss_variant&splice_acceptor_variant&splice_donor_variant&splice_region_variant&intron_variant | HIGH | c.4663-363_4699-8del | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 21/41 | INFO_REALIGN_3_PRIME | chr3 | 130413180 | |||||
| chr3:130413557
|
C | T | 1 | a0048 | 1 | HG01261.hp1 | stop_gained | HIGH | c.4675C>T | p.Gln1559* | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 21/41 | 5013/8969 | 4675/7845 | 1559/2614 | chr3 | 130413557 | ||
| chr3:130413569
|
C | T | 1 | a0025 | 2 | HG02818.hp1 NA20129.hp1 |
stop_gained | HIGH | c.4687C>T | p.Arg1563* | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 21/41 | 5025/8969 | 4687/7845 | 1563/2614 | chr3 | 130413569 | ||
| chr3:130415648
|
T | C | 16 | a0001a0006a0013others(13): Show | 82 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(79): Show |
missense_variant | MODERATE | c.4765T>C | p.Ser1589Pro | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 23/41 | 5103/8969 | 4765/7845 | 1589/2614 | chr3 | 130415648 | ||
| chr3:130416800
|
C | A | 8 | a0009a0017a0020others(5): Show | 24 | HG00438.hp1 HG01106.hp1 HG01109.hp2 others(21): Show |
missense_variant | MODERATE | c.4868C>A | p.Pro1623His | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 24/41 | 5206/8969 | 4868/7845 | 1623/2614 | chr3 | 130416800 | ||
| chr3:130431466
|
A | C | 3 | a0013a0014a0053 | 13 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(10): Show |
missense_variant&splice_region_variant | MODERATE | c.5250A>C | p.Glu1750Asp | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/41 | 5588/8969 | 5250/7845 | 1750/2614 | chr3 | 130431466 | ||
| chr3:130431770
|
C | T | 1 | a0065 | 1 | HG02155.hp2 | missense_variant | MODERATE | c.5554C>T | p.Arg1852Cys | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/41 | 5892/8969 | 5554/7845 | 1852/2614 | chr3 | 130431770 | ||
| chr3:130431860
|
A | G | 4 | a0031a0038a0052others(1): Show | 6 | HG01243.hp1 HG02647.hp2 HG03098.hp2 others(3): Show |
missense_variant | MODERATE | c.5644A>G | p.Ile1882Val | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/41 | 5982/8969 | 5644/7845 | 1882/2614 | chr3 | 130431860 | ||
| chr3:130440319
|
A | G | 1 | a0086 | 1 | NA18954.hp1 | missense_variant | MODERATE | c.5981A>G | p.Asn1994Ser | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 35/41 | 6319/8969 | 5981/7845 | 1994/2614 | chr3 | 130440319 | ||
| chr3:130440486
|
C | T | 1 | a0015 | 5 | HG01070.hp2 HG01074.hp1 HG01192.hp1 others(2): Show |
stop_gained | HIGH | c.6148C>T | p.Gln2050* | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 35/41 | 6486/8969 | 6148/7845 | 2050/2614 | chr3 | 130440486 | ||
| chr3:130440516
|
C | T | 1 | a0082 | 1 | NA19060.hp2 | missense_variant | MODERATE | c.6178C>T | p.Arg2060Cys | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 35/41 | 6516/8969 | 6178/7845 | 2060/2614 | chr3 | 130440516 | ||
| chr3:130443511
|
G | A | 2 | a0030a0077 | 3 | HG03041.hp1 HG03453.hp2 NA19240.hp1 |
missense_variant | MODERATE | c.6523G>A | p.Asp2175Asn | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/41 | 6861/8969 | 6523/7845 | 2175/2614 | chr3 | 130443511 | ||
| chr3:130443551
|
A | G | 68 | a0001a0002a0004others(65): Show | 240 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(237): Show |
missense_variant | MODERATE | c.6563A>G | p.Gln2188Arg | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/41 | 6901/8969 | 6563/7845 | 2188/2614 | chr3 | 130443551 | ||
| chr3:130455490
|
G | A | 78 | a0001a0002a0004others(75): Show | 260 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(257): Show |
missense_variant | MODERATE | c.6614G>A | p.Gly2205Asp | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/41 | 6952/8969 | 6614/7845 | 2205/2614 | chr3 | 130455490 | ||
| chr3:130455589
|
A | G | 2 | a0010a0057 | 9 | HG00621.hp1 HG01255.hp2 HG01346.hp2 others(6): Show |
missense_variant | MODERATE | c.6713A>G | p.Gln2238Arg | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/41 | 7051/8969 | 6713/7845 | 2238/2614 | chr3 | 130455589 | ||
| chr3:130468818
|
G | T | 1 | a0049 | 1 | HG03239.hp1 | stop_gained | HIGH | c.6814G>T | p.Glu2272* | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 38/41 | 7152/8969 | 6814/7845 | 2272/2614 | chr3 | 130468818 | ||
| chr3:130468908
|
G | A | 2 | a0043a0059 | 2 | HG02109.hp1 NA19030.hp2 |
missense_variant | MODERATE | c.6904G>A | p.Val2302Ile | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 38/41 | 7242/8969 | 6904/7845 | 2302/2614 | chr3 | 130468908 | ||
| chr3:130469277
|
G | A | 4 | a0019a0028a0040others(1): Show | 9 | HG00639.hp1 HG02809.hp1 HG02896.hp2 others(6): Show |
missense_variant | MODERATE | c.7273G>A | p.Val2425Ile | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 38/41 | 7611/8969 | 7273/7845 | 2425/2614 | chr3 | 130469277 | ||
| chr3:130469317
|
A | C | 1 | a0049 | 1 | HG03239.hp1 | missense_variant | MODERATE | c.7313A>C | p.Tyr2438Ser | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 38/41 | 7651/8969 | 7313/7845 | 2438/2614 | chr3 | 130469317 | ||
| chr3:130469371
|
A | T | 4 | a0036a0042a0063others(1): Show | 5 | HG02109.hp2 HG02647.hp2 HG02895.hp1 others(2): Show |
missense_variant | MODERATE | c.7367A>T | p.Glu2456Val | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 38/41 | 7705/8969 | 7367/7845 | 2456/2614 | chr3 | 130469371 | ||
| chr3:130471687
|
T | C | 4 | a0012a0025a0046others(1): Show | 11 | HG00544.hp2 HG00597.hp1 HG02083.hp1 others(8): Show |
missense_variant | MODERATE | c.7580T>C | p.Leu2527Pro | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/41 | 7918/8969 | 7580/7845 | 2527/2614 | chr3 | 130471687 | ||
| chr3:130471786
|
G | A | 55 | a0001a0002a0004others(52): Show | 208 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(205): Show |
missense_variant | MODERATE | c.7679G>A | p.Ser2560Asn | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/41 | 8017/8969 | 7679/7845 | 2560/2614 | chr3 | 130471786 | ||
| chr3:130471872
|
G | A | 18 | a0003a0016a0024others(15): Show | 37 | HG00735.hp2 HG01109.hp2 HG01891.hp1 others(34): Show |
missense_variant | MODERATE | c.7765G>A | p.Ala2589Thr | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/41 | 8103/8969 | 7765/7845 | 2589/2614 | chr3 | 130471872 | ||
| chr3:130471876
|
AT | A | 21 | a0001a0004a0006others(18): Show | 104 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(101): Show |
frameshift_variant | HIGH | c.7772delT | p.Leu2591fs | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/41 | 8110/8969 | 7772/7845 | 2591/2614 | INFO_REALIGN_3_PRIME | chr3 | 130471876 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr3:130376649
|
C | T | 4 | a0038c0043a0040c0042a0058c0107others(1): Show | 6 | HG02622.hp2 HG02809.hp1 HG02922.hp1 others(3): Show |
synonymous_variant | LOW | c.480C>T | p.Asp160Asp | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 3/41 | 818/8969 | 480/7845 | 160/2614 | chr3 | 130376649 | ||
| chr3:130379452
|
C | T | 1 | a0089c0102 | 1 | HG02109.hp2 | synonymous_variant | LOW | c.702C>T | p.Leu234Leu | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 4/41 | 1040/8969 | 702/7845 | 234/2614 | chr3 | 130379452 | ||
| chr3:130379506
|
G | A | 62 | a0002c0002a0002c0047a0003c0004others(59): Show | 145 | HG00140.hp2 HG00408.hp2 HG00544.hp1 others(142): Show |
synonymous_variant | LOW | c.756G>A | p.Arg252Arg | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 4/41 | 1094/8969 | 756/7845 | 252/2614 | chr3 | 130379506 | ||
| chr3:130379722
|
C | T | 3 | a0013c0075a0041c0033a0087c0076 | 4 | HG01346.hp1 HG02976.hp2 HG03831.hp2 others(1): Show |
synonymous_variant | LOW | c.972C>T | p.Asp324Asp | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 4/41 | 1310/8969 | 972/7845 | 324/2614 | chr3 | 130379722 | ||
| chr3:130384880
|
G | A | 13 | a0002c0002a0002c0034a0002c0047others(10): Show | 43 | HG00621.hp1 HG01070.hp2 HG01074.hp1 others(40): Show |
synonymous_variant | LOW | c.1377G>A | p.Glu459Glu | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 5/41 | 1715/8969 | 1377/7845 | 459/2614 | chr3 | 130384880 | ||
| chr3:130385219
|
T | C | 68 | a0001c0014a0001c0082a0002c0002others(65): Show | 157 | HG00140.hp2 HG00408.hp2 HG00544.hp1 others(154): Show |
synonymous_variant | LOW | c.1716T>C | p.Thr572Thr | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 5/41 | 2054/8969 | 1716/7845 | 572/2614 | chr3 | 130385219 | ||
| chr3:130385339
|
C | T | 1 | a0052c0101 | 1 | HG01243.hp1 | synonymous_variant | LOW | c.1836C>T | p.Val612Val | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 5/41 | 2174/8969 | 1836/7845 | 612/2614 | chr3 | 130385339 | ||
| chr3:130385363
|
A | G | 67 | a0002c0002a0002c0034a0002c0047others(64): Show | 151 | HG00140.hp2 HG00408.hp2 HG00544.hp1 others(148): Show |
splice_region_variant&synonymous_variant | LOW | c.1860A>G | p.Lys620Lys | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 5/41 | 2198/8969 | 1860/7845 | 620/2614 | chr3 | 130385363 | ||
| chr3:130388599
|
C | T | 2 | a0001c0040a0048c0099 | 3 | HG01261.hp1 HG01358.hp1 HG01978.hp2 |
synonymous_variant | LOW | c.1881C>T | p.Ala627Ala | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 6/41 | 2219/8969 | 1881/7845 | 627/2614 | chr3 | 130388599 | ||
| chr3:130391414
|
C | G | 3 | a0037c0032a0071c0071a0072c0072 | 4 | HG02280.hp2 HG02622.hp1 HG02647.hp1 others(1): Show |
synonymous_variant | LOW | c.2652C>G | p.Arg884Arg | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 7/41 | 2990/8969 | 2652/7845 | 884/2614 | chr3 | 130391414 | ||
| chr3:130391459
|
C | T | 1 | a0045c0077 | 1 | HG02572.hp1 | synonymous_variant | LOW | c.2697C>T | p.His899His | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 7/41 | 3035/8969 | 2697/7845 | 899/2614 | chr3 | 130391459 | ||
| chr3:130391486
|
T | C | 1 | a0059c0073 | 1 | HG02109.hp1 | synonymous_variant | LOW | c.2724T>C | p.His908His | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 7/41 | 3062/8969 | 2724/7845 | 908/2614 | chr3 | 130391486 | ||
| chr3:130391702
|
G | A | 1 | a0082c0045 | 1 | NA19060.hp2 | synonymous_variant | LOW | c.2940G>A | p.Leu980Leu | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 7/41 | 3278/8969 | 2940/7845 | 980/2614 | chr3 | 130391702 | ||
| chr3:130397863
|
C | T | 3 | a0013c0016a0013c0075a0053c0092 | 7 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(4): Show |
synonymous_variant | LOW | c.3849C>T | p.Asn1283Asn | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 9/41 | 4187/8969 | 3849/7845 | 1283/2614 | chr3 | 130397863 | ||
| chr3:130405647
|
G | A | 19 | a0001c0001a0001c0014a0001c0040others(16): Show | 81 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(78): Show |
synonymous_variant | LOW | c.4341G>A | p.Ala1447Ala | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 14/41 | 4679/8969 | 4341/7845 | 1447/2614 | chr3 | 130405647 | ||
| chr3:130406145
|
C | T | 15 | a0001c0001a0001c0014a0001c0040others(12): Show | 73 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(70): Show |
synonymous_variant | LOW | c.4395C>T | p.Asp1465Asp | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 16/41 | 4733/8969 | 4395/7845 | 1465/2614 | chr3 | 130406145 | ||
| chr3:130409388
|
G | A | 3 | a0013c0016a0013c0075a0053c0092 | 7 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(4): Show |
splice_region_variant&synonymous_variant | LOW | c.4542G>A | p.Pro1514Pro | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 18/41 | 4880/8969 | 4542/7845 | 1514/2614 | chr3 | 130409388 | ||
| chr3:130431517
|
C | T | 1 | a0059c0073 | 1 | HG02109.hp1 | synonymous_variant | LOW | c.5301C>T | p.Tyr1767Tyr | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/41 | 5639/8969 | 5301/7845 | 1767/2614 | chr3 | 130431517 | ||
| chr3:130440479
|
T | C | 1 | a0025c0041 | 2 | HG02818.hp1 NA20129.hp1 |
synonymous_variant | LOW | c.6141T>C | p.Thr2047Thr | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 35/41 | 6479/8969 | 6141/7845 | 2047/2614 | chr3 | 130440479 | ||
| chr3:130440494
|
A | G | 1 | a0025c0041 | 2 | HG02818.hp1 NA20129.hp1 |
synonymous_variant | LOW | c.6156A>G | p.Leu2052Leu | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 35/41 | 6494/8969 | 6156/7845 | 2052/2614 | chr3 | 130440494 | ||
| chr3:130440791
|
G | A | 1 | a0027c0089 | 1 | HG01515.hp1 | synonymous_variant | LOW | c.6453G>A | p.Ala2151Ala | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 35/41 | 6791/8969 | 6453/7845 | 2151/2614 | chr3 | 130440791 | ||
| chr3:130443525
|
C | G | 1 | a0021c0096 | 1 | NA18984.hp2 | synonymous_variant | LOW | c.6537C>G | p.Leu2179Leu | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/41 | 6875/8969 | 6537/7845 | 2179/2614 | chr3 | 130443525 | ||
| chr3:130468973
|
T | C | 84 | a0001c0001a0001c0014a0001c0040others(81): Show | 243 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(240): Show |
synonymous_variant | LOW | c.6969T>C | p.Ile2323Ile | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 38/41 | 7307/8969 | 6969/7845 | 2323/2614 | chr3 | 130468973 | ||
| chr3:130469165
|
C | T | 4 | a0016c0020a0068c0059a0072c0072others(1): Show | 7 | HG01109.hp2 HG01891.hp2 HG02280.hp2 others(4): Show |
synonymous_variant | LOW | c.7161C>T | p.Gly2387Gly | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 38/41 | 7499/8969 | 7161/7845 | 2387/2614 | chr3 | 130469165 | ||
| chr3:130469198
|
T | C | 1 | a0002c0047 | 1 | NA18947.hp1 | synonymous_variant | LOW | c.7194T>C | p.Phe2398Phe | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 38/41 | 7532/8969 | 7194/7845 | 2398/2614 | chr3 | 130469198 | ||
| chr3:130470893
|
C | T | 1 | a0001c0082 | 1 | NA19085.hp1 | synonymous_variant | LOW | c.7500C>T | p.Thr2500Thr | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 39/41 | 7838/8969 | 7500/7845 | 2500/2614 | chr3 | 130470893 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr3:130345696
|
A | C | 3 | a0003c0004t0011a0040c0042t0011a0081c0080t0011 | 4 | HG02809.hp1 HG02895.hp2 HG03041.hp2 others(1): Show |
5_prime_UTR_variant | MODIFIER | c.-314A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/41 | 27943 | chr3 | 130345696 | |||||
| chr3:130345743
|
C | T | 3 | a0008c0026t0009a0010c0007t0009a0015c0015t0009 | 5 | HG01346.hp2 HG01361.hp1 HG01433.hp2 others(2): Show |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-267C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/41 | chr3 | 130345743 | ||||||
| chr3:130345786
|
A | C | 2 | a0013c0016t0010a0013c0075t0016 | 5 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(2): Show |
5_prime_UTR_variant | MODIFIER | c.-224A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/41 | 27853 | chr3 | 130345786 | |||||
| chr3:130345800
|
TGTGCGGC others(12): Show |
T | 121 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(118): Show | 268 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(265): Show |
5_prime_UTR_variant | MODIFIER | c.-190_-172delGTGCGG others(13): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/41 | 27801 | INFO_REALIGN_3_PRIME | chr3 | 130345800 | ||||
| chr3:130345820
|
G | T | 1 | a0013c0016t0010 | 4 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(1): Show |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-190G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/41 | chr3 | 130345820 | ||||||
| chr3:130345877
|
C | T | 2 | a0020c0023t0012a0054c0091t0015 | 3 | HG01981.hp2 HG03225.hp2 HG03579.hp2 |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-133C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/41 | chr3 | 130345877 | ||||||
| chr3:130345900
|
T | C | 90 | a0001c0001t0001a0001c0001t0002a0001c0014t0002others(87): Show | 216 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(213): Show |
5_prime_UTR_variant | MODIFIER | c.-110T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/41 | 27739 | chr3 | 130345900 | |||||
| chr3:130345964
|
T | C | 35 | a0001c0001t0002a0001c0014t0002a0001c0040t0002others(32): Show | 103 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(100): Show |
5_prime_UTR_variant | MODIFIER | c.-46T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/41 | 27675 | chr3 | 130345964 | |||||
| chr3:130484366
|
G | A | 2 | a0029c0088t0014a0031c0037t0013 | 2 | HG02717.hp2 HG03209.hp2 |
3_prime_UTR_variant | MODIFIER | c.*306G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 41/41 | 306 | chr3 | 130484366 | |||||
| chr3:130484707
|
A | AT | 113 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(110): Show | 260 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(257): Show |
3_prime_UTR_variant | MODIFIER | c.*647_*648insT | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 41/41 | 648 | chr3 | 130484707 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr3:130346009
|
C | A | 1 | a0090c0052t0003g0011 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-29+28C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130346009 | ||||||
| chr3:130346039
|
T | A | 5 | a0013c0016t0010g0013a0013c0016t0010g0014a0013c0016t0010g0015others(2): Show | 5 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.-29+58T>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130346039 | ||||||
| chr3:130346148
|
G | T | 2 | a0009c0009t0002g0281a0009c0009t0002g0282 | 2 | HG02129.hp1 NA19001.hp2 |
intron_variant | MODIFIER | c.-29+167G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130346148 | ||||||
| chr3:130346247
|
A | C | 1 | a0027c0090t0002g0280 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.-29+266A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130346247 | ||||||
| chr3:130346319
|
C | G | 3 | a0019c0017t0003g0277a0019c0017t0003g0278a0019c0017t0003g0279 | 3 | HG00639.hp1 HG02896.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.-29+338C>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130346319 | ||||||
| chr3:130346518
|
G | A | 1 | a0006c0005t0003g0017 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.-29+537G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130346518 | ||||||
| chr3:130346940
|
A | T | 1 | a0091c0078t0002g0276 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.-29+959A>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130346940 | ||||||
| chr3:130346999
|
T | C | 5 | a0013c0016t0010g0013a0013c0016t0010g0014a0013c0016t0010g0015others(2): Show | 5 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.-29+1018T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130346999 | ||||||
| chr3:130347001
|
A | G | 4 | a0016c0020t0001g0272a0016c0020t0001g0273a0016c0020t0001g0275others(1): Show | 4 | HG01891.hp2 HG02976.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.-29+1020A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130347001 | ||||||
| chr3:130347038
|
G | A | 2 | a0003c0004t0001g0018a0003c0004t0001g0019 | 2 | HG01975.hp1 HG01993.hp2 |
intron_variant | MODIFIER | c.-29+1057G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130347038 | ||||||
| chr3:130347365
|
ATT | A | 5 | a0013c0016t0010g0013a0013c0016t0010g0014a0013c0016t0010g0015others(2): Show | 5 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.-29+1387_-29+1388d others(4): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130347365 | |||||
| chr3:130347382
|
T | G | 1 | a0003c0004t0001g0020 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.-29+1401T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130347382 | ||||||
| chr3:130347684
|
C | A | 8 | a0004c0003t0001g0022a0004c0003t0001g0026a0004c0003t0001g0027others(5): Show | 8 | HG00408.hp2 HG00438.hp2 HG02056.hp1 others(5): Show |
intron_variant | MODIFIER | c.-29+1703C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130347684 | ||||||
| chr3:130347714
|
C | T | 58 | a0001c0001t0002g0010a0001c0001t0002g0219a0001c0001t0002g0220others(55): Show | 61 | HG00280.hp2 HG00408.hp1 HG00609.hp1 others(58): Show |
intron_variant | MODIFIER | c.-29+1733C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130347714 | ||||||
| chr3:130347756
|
C | A | 3 | a0020c0023t0012g0029a0020c0023t0012g0030a0054c0091t0015g0031 | 3 | HG01981.hp2 HG03225.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.-29+1775C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130347756 | ||||||
| chr3:130347756
|
C | G | 3 | a0019c0017t0003g0277a0019c0017t0003g0278a0019c0017t0003g0279 | 3 | HG00639.hp1 HG02896.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.-29+1775C>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130347756 | ||||||
| chr3:130347846
|
C | T | 5 | a0013c0016t0010g0013a0013c0016t0010g0014a0013c0016t0010g0015others(2): Show | 5 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.-29+1865C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130347846 | ||||||
| chr3:130347861
|
G | A | 1 | a0001c0001t0002g0219 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.-29+1880G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130347861 | ||||||
| chr3:130347861
|
G | T | 3 | a0020c0023t0012g0029a0020c0023t0012g0030a0054c0091t0015g0031 | 3 | HG01981.hp2 HG03225.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.-29+1880G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130347861 | ||||||
| chr3:130347918
|
G | A | 1 | a0090c0052t0003g0011 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-29+1937G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130347918 | ||||||
| chr3:130348199
|
G | GCACCTAT others(3): Show |
2 | a0002c0002t0002g0032a0083c0046t0007g0033 | 2 | HG03710.hp2 NA18955.hp1 |
intron_variant | MODIFIER | c.-29+2220_-29+2229d others(12): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130348199 | |||||
| chr3:130348231
|
C | A | 5 | a0013c0016t0010g0013a0013c0016t0010g0014a0013c0016t0010g0015others(2): Show | 5 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.-29+2250C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130348231 | ||||||
| chr3:130348299
|
G | C | 5 | a0013c0016t0010g0013a0013c0016t0010g0014a0013c0016t0010g0015others(2): Show | 5 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.-29+2318G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130348299 | ||||||
| chr3:130348369
|
C | T | 5 | a0013c0016t0010g0013a0013c0016t0010g0014a0013c0016t0010g0015others(2): Show | 5 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.-29+2388C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130348369 | ||||||
| chr3:130348425
|
T | G | 1 | a0060c0074t0002g0034 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.-29+2444T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130348425 | ||||||
| chr3:130348707
|
C | A | 8 | a0004c0003t0001g0022a0004c0003t0001g0026a0004c0003t0001g0027others(5): Show | 8 | HG00408.hp2 HG00438.hp2 HG02056.hp1 others(5): Show |
intron_variant | MODIFIER | c.-29+2726C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130348707 | ||||||
| chr3:130348758
|
A | G | 2 | a0030c0035t0001g0217a0030c0035t0001g0218 | 2 | HG03041.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-29+2777A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130348758 | ||||||
| chr3:130348825
|
T | C | 5 | a0013c0016t0010g0013a0013c0016t0010g0014a0013c0016t0010g0015others(2): Show | 5 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.-29+2844T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130348825 | ||||||
| chr3:130348895
|
G | GTTTTTGG others(14): Show |
1 | a0047c0084t0002g0271 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.-29+2917_-29+2937d others(23): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130348895 | |||||
| chr3:130348973
|
C | T | 217 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(214): Show | 225 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(222): Show |
intron_variant | MODIFIER | c.-29+2992C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130348973 | ||||||
| chr3:130349085
|
A | G | 23 | a0001c0001t0003g0086a0003c0004t0011g0073a0004c0003t0003g0087others(20): Show | 24 | HG00738.hp2 HG01123.hp1 HG01167.hp1 others(21): Show |
intron_variant | MODIFIER | c.-29+3104A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130349085 | ||||||
| chr3:130349138
|
A | G | 1 | a0057c0098t0002g0270 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.-29+3157A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130349138 | ||||||
| chr3:130349197
|
A | G | 1 | a0001c0001t0002g0269 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.-29+3216A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130349197 | ||||||
| chr3:130349293
|
C | T | 1 | a0001c0001t0002g0268 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.-29+3312C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130349293 | ||||||
| chr3:130349540
|
A | G | 5 | a0013c0016t0010g0013a0013c0016t0010g0014a0013c0016t0010g0015others(2): Show | 5 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.-29+3559A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130349540 | ||||||
| chr3:130350122
|
A | G | 1 | a0064c0061t0002g0267 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.-29+4141A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130350122 | ||||||
| chr3:130350140
|
A | G | 2 | a0030c0035t0001g0217a0030c0035t0001g0218 | 2 | HG03041.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-29+4159A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130350140 | ||||||
| chr3:130350204
|
A | C | 2 | a0030c0035t0001g0217a0030c0035t0001g0218 | 2 | HG03041.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-29+4223A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130350204 | ||||||
| chr3:130350231
|
G | T | 5 | a0013c0016t0010g0013a0013c0016t0010g0014a0013c0016t0010g0015others(2): Show | 5 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.-29+4250G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130350231 | ||||||
| chr3:130350245
|
G | T | 1 | a0006c0005t0003g0017 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.-29+4264G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130350245 | ||||||
| chr3:130350358
|
G | A | 3 | a0019c0017t0003g0277a0019c0017t0003g0278a0019c0017t0003g0279 | 3 | HG00639.hp1 HG02896.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.-29+4377G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130350358 | ||||||
| chr3:130350462
|
T | G | 5 | a0013c0016t0010g0013a0013c0016t0010g0014a0013c0016t0010g0015others(2): Show | 5 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.-29+4481T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130350462 | ||||||
| chr3:130350704
|
A | G | 1 | a0005c0006t0004g0071 | 1 | NA19062.hp2 | intron_variant | MODIFIER | c.-29+4723A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130350704 | ||||||
| chr3:130350776
|
C | A | 5 | a0013c0016t0010g0013a0013c0016t0010g0014a0013c0016t0010g0015others(2): Show | 5 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.-29+4795C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130350776 | ||||||
| chr3:130350932
|
C | T | 5 | a0013c0016t0010g0013a0013c0016t0010g0014a0013c0016t0010g0015others(2): Show | 5 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.-29+4951C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130350932 | ||||||
| chr3:130350933
|
A | C | 279 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(276): Show | 289 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(286): Show |
intron_variant | MODIFIER | c.-29+4952A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130350933 | ||||||
| chr3:130351070
|
C | T | 2 | a0078c0062t0003g0216a0079c0063t0003g0215 | 2 | HG01109.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.-29+5089C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130351070 | ||||||
| chr3:130351239
|
G | A | 2 | a0042c0103t0002g0091a0043c0104t0002g0092 | 2 | HG06807.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.-29+5258G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130351239 | ||||||
| chr3:130351288
|
G | A | 1 | a0003c0004t0001g0093 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.-29+5307G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130351288 | ||||||
| chr3:130351362
|
C | A | 6 | a0009c0009t0002g0094a0009c0009t0002g0095a0009c0009t0002g0096others(3): Show | 6 | HG01123.hp2 HG01257.hp2 HG02129.hp1 others(3): Show |
intron_variant | MODIFIER | c.-29+5381C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130351362 | ||||||
| chr3:130351400
|
T | C | 5 | a0006c0005t0003g0017a0006c0005t0003g0039a0006c0005t0003g0041others(2): Show | 5 | HG02109.hp1 HG02257.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.-29+5419T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130351400 | ||||||
| chr3:130351569
|
C | T | 10 | a0007c0008t0003g0001a0007c0008t0003g0062a0007c0008t0003g0063others(7): Show | 11 | HG00733.hp1 HG01069.hp1 HG01175.hp2 others(8): Show |
intron_variant | MODIFIER | c.-29+5588C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130351569 | ||||||
| chr3:130351581
|
T | C | 1 | a0090c0052t0003g0011 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-29+5600T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130351581 | ||||||
| chr3:130351661
|
A | G | 2 | a0001c0001t0002g0010a0001c0001t0002g0266 | 3 | HG01070.hp1 HG01071.hp2 HG03704.hp2 |
intron_variant | MODIFIER | c.-29+5680A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130351661 | ||||||
| chr3:130351690
|
C | G | 1 | a0090c0052t0003g0011 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-29+5709C>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130351690 | ||||||
| chr3:130351749
|
C | T | 1 | a0044c0105t0006g0214 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.-29+5768C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130351749 | ||||||
| chr3:130351757
|
C | A | 1 | a0014c0013t0001g0098 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.-29+5776C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130351757 | ||||||
| chr3:130351805
|
G | C | 1 | a0001c0001t0002g0220 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.-29+5824G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130351805 | ||||||
| chr3:130351810
|
T | C | 1 | a0035c0028t0001g0099 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.-29+5829T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130351810 | ||||||
| chr3:130351814
|
C | T | 1 | a0035c0028t0001g0099 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.-29+5833C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130351814 | ||||||
| chr3:130351861
|
T | C | 58 | a0001c0001t0002g0010a0001c0001t0002g0219a0001c0001t0002g0220others(55): Show | 61 | HG00280.hp2 HG00408.hp1 HG00609.hp1 others(58): Show |
intron_variant | MODIFIER | c.-29+5880T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130351861 | ||||||
| chr3:130352018
|
C | A | 1 | a0044c0105t0006g0214 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.-29+6037C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130352018 | ||||||
| chr3:130352181
|
T | C | 57 | a0001c0001t0002g0010a0001c0001t0002g0219a0001c0001t0002g0220others(54): Show | 60 | HG00280.hp2 HG00408.hp1 HG00609.hp1 others(57): Show |
intron_variant | MODIFIER | c.-29+6200T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130352181 | ||||||
| chr3:130352189
|
G | A | 11 | a0005c0006t0004g0044a0005c0006t0004g0047a0005c0006t0004g0048others(8): Show | 11 | HG00597.hp2 HG02155.hp2 HG03669.hp1 others(8): Show |
intron_variant | MODIFIER | c.-29+6208G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130352189 | ||||||
| chr3:130352318
|
T | G | 2 | a0030c0035t0001g0217a0030c0035t0001g0218 | 2 | HG03041.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-29+6337T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130352318 | ||||||
| chr3:130352366
|
G | C | 1 | a0013c0075t0016g0012 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.-29+6385G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130352366 | ||||||
| chr3:130352391
|
G | A | 1 | a0003c0004t0002g0221 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.-29+6410G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130352391 | ||||||
| chr3:130352452
|
G | A | 10 | a0009c0009t0002g0094a0009c0009t0002g0095a0009c0009t0002g0096others(7): Show | 11 | HG01106.hp1 HG01123.hp2 HG01257.hp2 others(8): Show |
intron_variant | MODIFIER | c.-29+6471G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130352452 | ||||||
| chr3:130352461
|
T | G | 219 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(216): Show | 227 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(224): Show |
intron_variant | MODIFIER | c.-29+6480T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130352461 | ||||||
| chr3:130352513
|
A | G | 1 | a0005c0006t0004g0051 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.-29+6532A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130352513 | ||||||
| chr3:130352633
|
C | G | 17 | a0006c0005t0003g0017a0006c0005t0003g0039a0006c0005t0003g0041others(14): Show | 18 | HG00733.hp1 HG01069.hp1 HG01109.hp1 others(15): Show |
intron_variant | MODIFIER | c.-29+6652C>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130352633 | ||||||
| chr3:130352697
|
A | G | 1 | a0001c0014t0002g0264 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.-29+6716A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130352697 | ||||||
| chr3:130352986
|
T | C | 1 | a0073c0066t0006g0060 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.-29+7005T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130352986 | ||||||
| chr3:130352992
|
G | A | 1 | a0044c0105t0006g0214 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.-29+7011G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130352992 | ||||||
| chr3:130353160
|
A | C | 2 | a0036c0030t0002g0212a0036c0030t0002g0213 | 2 | HG02895.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.-29+7179A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130353160 | ||||||
| chr3:130353212
|
G | A | 5 | a0013c0016t0010g0013a0013c0016t0010g0014a0013c0016t0010g0015others(2): Show | 5 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.-29+7231G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130353212 | ||||||
| chr3:130353221
|
G | A | 5 | a0013c0016t0010g0013a0013c0016t0010g0014a0013c0016t0010g0015others(2): Show | 5 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.-29+7240G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130353221 | ||||||
| chr3:130353252
|
C | T | 1 | a0090c0052t0003g0011 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-29+7271C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130353252 | ||||||
| chr3:130353337
|
C | G | 1 | a0043c0104t0002g0092 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-29+7356C>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130353337 | ||||||
| chr3:130353386
|
G | T | 5 | a0013c0016t0010g0013a0013c0016t0010g0014a0013c0016t0010g0015others(2): Show | 5 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.-29+7405G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130353386 | ||||||
| chr3:130353470
|
C | T | 1 | a0026c0038t0002g0263 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.-29+7489C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130353470 | ||||||
| chr3:130353520
|
T | C | 5 | a0013c0016t0010g0013a0013c0016t0010g0014a0013c0016t0010g0015others(2): Show | 5 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.-29+7539T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130353520 | ||||||
| chr3:130353527
|
A | G | 1 | a0040c0042t0011g0090 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.-29+7546A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130353527 | ||||||
| chr3:130353723
|
G | GA | 216 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(213): Show | 224 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(221): Show |
intron_variant | MODIFIER | c.-29+7751dupA | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130353723 | |||||
| chr3:130353789
|
T | C | 5 | a0013c0016t0010g0013a0013c0016t0010g0014a0013c0016t0010g0015others(2): Show | 5 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.-29+7808T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130353789 | ||||||
| chr3:130353886
|
T | C | 1 | a0001c0001t0002g0222 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.-29+7905T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130353886 | ||||||
| chr3:130354065
|
G | T | 1 | a0068c0059t0001g0210 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.-29+8084G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130354065 | ||||||
| chr3:130354085
|
AAAAAG | A | 5 | a0013c0016t0010g0013a0013c0016t0010g0014a0013c0016t0010g0015others(2): Show | 5 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.-29+8112_-29+8116d others(7): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130354085 | |||||
| chr3:130354095
|
G | A | 5 | a0013c0016t0010g0013a0013c0016t0010g0014a0013c0016t0010g0015others(2): Show | 5 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.-29+8114G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130354095 | ||||||
| chr3:130354122
|
G | A | 5 | a0013c0016t0010g0013a0013c0016t0010g0014a0013c0016t0010g0015others(2): Show | 5 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.-29+8141G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130354122 | ||||||
| chr3:130354142
|
G | A | 1 | a0002c0002t0001g0103 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.-29+8161G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130354142 | ||||||
| chr3:130354174
|
G | A | 1 | a0001c0001t0002g0223 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.-29+8193G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130354174 | ||||||
| chr3:130354279
|
A | G | 50 | a0001c0001t0002g0189a0001c0001t0002g0190a0001c0001t0002g0191others(47): Show | 52 | HG00140.hp1 HG00280.hp1 HG00544.hp2 others(49): Show |
intron_variant | MODIFIER | c.-29+8298A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130354279 | ||||||
| chr3:130354470
|
C | CA | 5 | a0013c0016t0010g0013a0013c0016t0010g0014a0013c0016t0010g0015others(2): Show | 5 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.-29+8492dupA | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130354470 | |||||
| chr3:130354500
|
A | G | 6 | a0006c0005t0003g0017a0006c0005t0003g0039a0006c0005t0003g0041others(3): Show | 6 | HG02109.hp1 HG02257.hp1 HG02258.hp1 others(3): Show |
intron_variant | MODIFIER | c.-29+8519A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130354500 | ||||||
| chr3:130354521
|
A | G | 1 | a0001c0001t0002g0268 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.-29+8540A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130354521 | ||||||
| chr3:130354575
|
C | G | 1 | a0090c0052t0003g0011 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-29+8594C>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130354575 | ||||||
| chr3:130354607
|
G | A | 5 | a0013c0016t0010g0013a0013c0016t0010g0014a0013c0016t0010g0015others(2): Show | 5 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.-29+8626G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130354607 | ||||||
| chr3:130354655
|
G | A | 12 | a0003c0004t0011g0073a0023c0021t0006g0002a0023c0021t0006g0080others(9): Show | 13 | HG00738.hp2 HG01123.hp1 HG01167.hp1 others(10): Show |
intron_variant | MODIFIER | c.-29+8674G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130354655 | ||||||
| chr3:130354685
|
C | T | 5 | a0013c0016t0010g0013a0013c0016t0010g0014a0013c0016t0010g0015others(2): Show | 5 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.-29+8704C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130354685 | ||||||
| chr3:130354806
|
G | A | 1 | a0058c0107t0003g0072 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.-29+8825G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130354806 | ||||||
| chr3:130354865
|
G | A | 5 | a0013c0016t0010g0013a0013c0016t0010g0014a0013c0016t0010g0015others(2): Show | 5 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.-29+8884G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130354865 | ||||||
| chr3:130354933
|
G | T | 5 | a0013c0016t0010g0013a0013c0016t0010g0014a0013c0016t0010g0015others(2): Show | 5 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.-29+8952G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130354933 | ||||||
| chr3:130354961
|
CATT | C | 5 | a0013c0016t0010g0013a0013c0016t0010g0014a0013c0016t0010g0015others(2): Show | 5 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.-29+8982_-29+8984d others(5): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130354961 | |||||
| chr3:130355051
|
C | CT | 11 | a0001c0001t0002g0222a0001c0001t0002g0223a0001c0001t0002g0260others(8): Show | 11 | HG00140.hp2 HG01106.hp2 HG01167.hp2 others(8): Show |
intron_variant | MODIFIER | c.-29+9078dupT | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130355051 | |||||
| chr3:130355126
|
A | G | 1 | a0044c0105t0006g0214 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.-29+9145A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130355126 | ||||||
| chr3:130355134
|
G | T | 12 | a0001c0014t0002g0201a0004c0003t0001g0207a0011c0012t0002g0204others(9): Show | 12 | HG00544.hp2 HG00597.hp1 HG02083.hp1 others(9): Show |
intron_variant | MODIFIER | c.-29+9153G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130355134 | ||||||
| chr3:130355141
|
G | A | 5 | a0013c0016t0010g0013a0013c0016t0010g0014a0013c0016t0010g0015others(2): Show | 5 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.-29+9160G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130355141 | ||||||
| chr3:130355149
|
G | A | 5 | a0013c0016t0010g0013a0013c0016t0010g0014a0013c0016t0010g0015others(2): Show | 5 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.-29+9168G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130355149 | ||||||
| chr3:130355270
|
A | T | 5 | a0013c0016t0010g0013a0013c0016t0010g0014a0013c0016t0010g0015others(2): Show | 5 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.-29+9289A>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130355270 | ||||||
| chr3:130355295
|
T | C | 5 | a0013c0016t0010g0013a0013c0016t0010g0014a0013c0016t0010g0015others(2): Show | 5 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.-29+9314T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130355295 | ||||||
| chr3:130355516
|
C | T | 5 | a0013c0016t0010g0013a0013c0016t0010g0014a0013c0016t0010g0015others(2): Show | 5 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.-29+9535C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130355516 | ||||||
| chr3:130355525
|
C | G | 3 | a0019c0017t0003g0277a0019c0017t0003g0278a0019c0017t0003g0279 | 3 | HG00639.hp1 HG02896.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.-29+9544C>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130355525 | ||||||
| chr3:130355609
|
G | T | 2 | a0030c0035t0001g0217a0030c0035t0001g0218 | 2 | HG03041.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-29+9628G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130355609 | ||||||
| chr3:130355635
|
A | G | 1 | a0009c0009t0002g0282 | 1 | NA19001.hp2 | intron_variant | MODIFIER | c.-29+9654A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130355635 | ||||||
| chr3:130355652
|
A | G | 12 | a0001c0001t0003g0086a0004c0003t0003g0087a0006c0005t0003g0081others(9): Show | 12 | HG01255.hp1 HG01981.hp2 HG02717.hp2 others(9): Show |
intron_variant | MODIFIER | c.-29+9671A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130355652 | ||||||
| chr3:130355905
|
CAA | C | 3 | a0019c0017t0003g0277a0019c0017t0003g0278a0019c0017t0003g0279 | 3 | HG00639.hp1 HG02896.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.-29+9927_-29+9928d others(4): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130355905 | |||||
| chr3:130356022
|
T | G | 1 | a0001c0001t0002g0224 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.-29+10041T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130356022 | ||||||
| chr3:130356027
|
A | G | 6 | a0006c0005t0003g0017a0006c0005t0003g0039a0006c0005t0003g0041others(3): Show | 6 | HG02109.hp1 HG02257.hp1 HG02258.hp1 others(3): Show |
intron_variant | MODIFIER | c.-29+10046A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130356027 | ||||||
| chr3:130356043
|
C | A | 5 | a0030c0035t0001g0217a0030c0035t0001g0218a0078c0062t0003g0216others(2): Show | 5 | HG01109.hp2 HG03041.hp1 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.-29+10062C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130356043 | ||||||
| chr3:130356142
|
A | C | 5 | a0013c0016t0010g0013a0013c0016t0010g0014a0013c0016t0010g0015others(2): Show | 5 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.-29+10161A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130356142 | ||||||
| chr3:130356214
|
A | C | 5 | a0013c0016t0010g0013a0013c0016t0010g0014a0013c0016t0010g0015others(2): Show | 5 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.-29+10233A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130356214 | ||||||
| chr3:130356371
|
A | G | 1 | a0013c0075t0016g0012 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.-29+10390A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130356371 | ||||||
| chr3:130356435
|
C | A | 1 | a0016c0020t0001g0272 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.-29+10454C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130356435 | ||||||
| chr3:130356502
|
G | A | 1 | a0007c0064t0006g0038 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-29+10521G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130356502 | ||||||
| chr3:130356705
|
A | C | 1 | a0005c0006t0008g0188 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.-29+10724A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130356705 | ||||||
| chr3:130356871
|
C | T | 4 | a0013c0016t0010g0013a0013c0016t0010g0014a0013c0016t0010g0015others(1): Show | 4 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(1): Show |
intron_variant | MODIFIER | c.-29+10890C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130356871 | ||||||
| chr3:130357267
|
A | G | 4 | a0020c0023t0005g0058a0020c0023t0012g0029a0020c0023t0012g0030others(1): Show | 4 | HG01981.hp2 HG03225.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.-29+11286A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130357267 | ||||||
| chr3:130357357
|
G | T | 12 | a0023c0021t0006g0002a0023c0021t0006g0080a0028c0036t0003g0075others(9): Show | 13 | HG00738.hp2 HG01123.hp1 HG01167.hp1 others(10): Show |
intron_variant | MODIFIER | c.-29+11376G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130357357 | ||||||
| chr3:130357537
|
A | G | 1 | a0019c0017t0003g0279 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.-29+11556A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130357537 | ||||||
| chr3:130357820
|
T | C | 2 | a0030c0035t0001g0217a0030c0035t0001g0218 | 2 | HG03041.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-29+11839T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130357820 | ||||||
| chr3:130357953
|
C | G | 274 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(271): Show | 284 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(281): Show |
intron_variant | MODIFIER | c.-29+11972C>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130357953 | ||||||
| chr3:130357964
|
C | T | 17 | a0006c0005t0003g0017a0006c0005t0003g0039a0006c0005t0003g0041others(14): Show | 18 | HG00733.hp1 HG01069.hp1 HG01109.hp1 others(15): Show |
intron_variant | MODIFIER | c.-29+11983C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130357964 | ||||||
| chr3:130357971
|
C | T | 1 | a0066c0057t0008g0187 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.-29+11990C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130357971 | ||||||
| chr3:130358120
|
C | T | 11 | a0023c0021t0006g0002a0023c0021t0006g0080a0028c0036t0003g0075others(8): Show | 12 | HG00738.hp2 HG01123.hp1 HG01167.hp1 others(9): Show |
intron_variant | MODIFIER | c.-29+12139C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130358120 | ||||||
| chr3:130358147
|
C | T | 1 | a0016c0020t0001g0275 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.-29+12166C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130358147 | ||||||
| chr3:130358196
|
A | T | 120 | a0001c0001t0001g0186a0001c0001t0002g0010a0001c0001t0002g0189others(117): Show | 125 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(122): Show |
intron_variant | MODIFIER | c.-29+12215A>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130358196 | ||||||
| chr3:130358278
|
A | G | 2 | a0001c0001t0002g0258a0001c0001t0002g0259 | 2 | HG00642.hp1 HG01192.hp2 |
intron_variant | MODIFIER | c.-29+12297A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130358278 | ||||||
| chr3:130358587
|
C | T | 1 | a0073c0066t0006g0060 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.-29+12606C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130358587 | ||||||
| chr3:130358645
|
A | T | 4 | a0020c0023t0005g0058a0020c0023t0012g0029a0020c0023t0012g0030others(1): Show | 4 | HG01981.hp2 HG03225.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.-29+12664A>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130358645 | ||||||
| chr3:130358651
|
T | C | 3 | a0018c0018t0005g0053a0018c0018t0005g0054a0018c0018t0005g0055 | 3 | HG02572.hp2 HG02809.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.-29+12670T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130358651 | ||||||
| chr3:130358664
|
G | T | 5 | a0013c0016t0010g0013a0013c0016t0010g0014a0013c0016t0010g0015others(2): Show | 5 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.-29+12683G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130358664 | ||||||
| chr3:130358759
|
T | A | 3 | a0019c0017t0003g0277a0019c0017t0003g0278a0019c0017t0003g0279 | 3 | HG00639.hp1 HG02896.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.-29+12778T>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130358759 | ||||||
| chr3:130358780
|
A | C | 2 | a0005c0006t0004g0049a0005c0006t0004g0050 | 2 | NA18947.hp2 NA18992.hp2 |
intron_variant | MODIFIER | c.-29+12799A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130358780 | ||||||
| chr3:130359103
|
T | A | 10 | a0007c0008t0003g0001a0007c0008t0003g0062a0007c0008t0003g0063others(7): Show | 11 | HG00733.hp1 HG01069.hp1 HG01175.hp2 others(8): Show |
intron_variant | MODIFIER | c.-29+13122T>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130359103 | ||||||
| chr3:130359117
|
T | A | 1 | a0006c0005t0001g0021 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.-29+13136T>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130359117 | ||||||
| chr3:130359299
|
G | T | 1 | a0003c0025t0002g0257 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.-29+13318G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130359299 | ||||||
| chr3:130359433
|
G | C | 1 | a0044c0105t0006g0214 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.-29+13452G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130359433 | ||||||
| chr3:130359542
|
C | T | 52 | a0001c0001t0002g0198a0001c0001t0003g0086a0002c0002t0002g0032others(49): Show | 54 | HG00140.hp1 HG00280.hp1 HG00544.hp2 others(51): Show |
intron_variant | MODIFIER | c.-29+13561C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130359542 | ||||||
| chr3:130359771
|
G | A | 1 | a0001c0001t0002g0225 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.-29+13790G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130359771 | ||||||
| chr3:130359784
|
C | G | 2 | a0001c0001t0002g0258a0001c0001t0002g0259 | 2 | HG00642.hp1 HG01192.hp2 |
intron_variant | MODIFIER | c.-29+13803C>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130359784 | ||||||
| chr3:130360083
|
A | G | 10 | a0007c0008t0003g0001a0007c0008t0003g0062a0007c0008t0003g0063others(7): Show | 11 | HG00733.hp1 HG01069.hp1 HG01175.hp2 others(8): Show |
intron_variant | MODIFIER | c.-28-13528A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130360083 | ||||||
| chr3:130360188
|
C | T | 1 | a0090c0052t0003g0011 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-28-13423C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130360188 | ||||||
| chr3:130360368
|
G | A | 1 | a0090c0052t0003g0011 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-28-13243G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130360368 | ||||||
| chr3:130360396
|
G | A | 1 | a0073c0066t0006g0060 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.-28-13215G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130360396 | ||||||
| chr3:130360443
|
C | T | 2 | a0012c0011t0002g0208a0012c0011t0002g0209 | 2 | HG00597.hp1 NA19005.hp2 |
intron_variant | MODIFIER | c.-28-13168C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130360443 | ||||||
| chr3:130360459
|
A | G | 1 | a0001c0001t0002g0256 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.-28-13152A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130360459 | ||||||
| chr3:130360495
|
T | C | 1 | a0089c0102t0005g0056 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.-28-13116T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130360495 | ||||||
| chr3:130360508
|
C | T | 12 | a0007c0008t0003g0001a0007c0008t0003g0062a0007c0008t0003g0063others(9): Show | 13 | HG00733.hp1 HG01069.hp1 HG01109.hp1 others(10): Show |
intron_variant | MODIFIER | c.-28-13103C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130360508 | ||||||
| chr3:130360605
|
T | C | 231 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(228): Show | 239 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(236): Show |
intron_variant | MODIFIER | c.-28-13006T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130360605 | ||||||
| chr3:130360925
|
T | C | 1 | a0035c0028t0001g0104 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.-28-12686T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130360925 | ||||||
| chr3:130361151
|
G | A | 3 | a0019c0017t0003g0277a0019c0017t0003g0278a0019c0017t0003g0279 | 3 | HG00639.hp1 HG02896.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.-28-12460G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130361151 | ||||||
| chr3:130361212
|
T | C | 2 | a0078c0062t0003g0216a0079c0063t0003g0215 | 2 | HG01109.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.-28-12399T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130361212 | ||||||
| chr3:130361237
|
G | C | 8 | a0013c0016t0010g0013a0013c0016t0010g0014a0013c0016t0010g0015others(5): Show | 8 | HG00140.hp2 HG01361.hp2 HG02280.hp2 others(5): Show |
intron_variant | MODIFIER | c.-28-12374G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130361237 | ||||||
| chr3:130361398
|
C | G | 1 | a0027c0089t0002g0200 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.-28-12213C>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130361398 | ||||||
| chr3:130361473
|
C | T | 1 | a0003c0004t0001g0179 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.-28-12138C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130361473 | ||||||
| chr3:130361544
|
G | GT | 3 | a0019c0017t0003g0277a0019c0017t0003g0278a0019c0017t0003g0279 | 3 | HG00639.hp1 HG02896.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.-28-12061dupT | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130361544 | |||||
| chr3:130361587
|
C | A | 3 | a0019c0017t0003g0277a0019c0017t0003g0278a0019c0017t0003g0279 | 3 | HG00639.hp1 HG02896.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.-28-12024C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130361587 | ||||||
| chr3:130361596
|
G | A | 12 | a0023c0021t0006g0002a0023c0021t0006g0080a0028c0036t0003g0075others(9): Show | 13 | HG00738.hp2 HG01123.hp1 HG01167.hp1 others(10): Show |
intron_variant | MODIFIER | c.-28-12015G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130361596 | ||||||
| chr3:130361644
|
T | G | 1 | a0089c0102t0005g0056 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.-28-11967T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130361644 | ||||||
| chr3:130361796
|
C | T | 67 | a0001c0001t0001g0186a0001c0001t0002g0010a0001c0001t0002g0189others(64): Show | 70 | HG00280.hp2 HG00408.hp1 HG00609.hp1 others(67): Show |
intron_variant | MODIFIER | c.-28-11815C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130361796 | ||||||
| chr3:130362045
|
T | C | 3 | a0019c0017t0003g0277a0019c0017t0003g0278a0019c0017t0003g0279 | 3 | HG00639.hp1 HG02896.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.-28-11566T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362045 | ||||||
| chr3:130362248
|
T | TTCTCTCT others(9): Show |
1 | a0010c0007t0001g0105 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.-28-11360_-28-1135 others(20): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130362248 | |||||
| chr3:130362252
|
T | C | 1 | a0010c0007t0001g0105 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.-28-11359T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362252 | ||||||
| chr3:130362252
|
T | TCTCTCTC others(10): Show |
1 | a0016c0020t0001g0273 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.-28-11359_-28-1135 others(21): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362252 | ||||||
| chr3:130362252
|
T | TTCTCTCT others(3): Show |
66 | a0001c0001t0001g0186a0001c0001t0002g0010a0001c0001t0002g0189others(63): Show | 68 | HG00280.hp2 HG00408.hp1 HG00609.hp1 others(65): Show |
intron_variant | MODIFIER | c.-28-11349_-28-1134 others(14): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130362252 | |||||
| chr3:130362252
|
T | TTCTCTCT others(5): Show |
21 | a0002c0002t0002g0227a0003c0004t0001g0179a0004c0003t0001g0207others(18): Show | 22 | HG00597.hp2 HG00639.hp1 HG02523.hp1 others(19): Show |
intron_variant | MODIFIER | c.-28-11351_-28-1134 others(16): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130362252 | |||||
| chr3:130362252
|
T | TTCTCTCT others(7): Show |
6 | a0037c0032t0001g0181a0041c0033t0008g0173a0041c0033t0008g0174others(3): Show | 6 | HG01346.hp1 HG02280.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.-28-11353_-28-1134 others(18): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130362252 | |||||
| chr3:130362252
|
T | TTCTCTCT others(9): Show |
40 | a0001c0001t0002g0198a0001c0001t0003g0086a0002c0002t0001g0172others(37): Show | 41 | HG00140.hp1 HG00280.hp1 HG00544.hp2 others(38): Show |
intron_variant | MODIFIER | c.-28-11355_-28-1134 others(20): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130362252 | |||||
| chr3:130362252
|
T | TTCTCTCT others(11): Show |
17 | a0005c0006t0007g0007a0008c0010t0001g0169a0008c0026t0009g0164others(14): Show | 18 | HG01346.hp2 HG01361.hp1 HG01433.hp2 others(15): Show |
intron_variant | MODIFIER | c.-28-11357_-28-1134 others(22): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130362252 | |||||
| chr3:130362252
|
T | TTCTCTCT others(13): Show |
68 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0121others(65): Show | 71 | HG00408.hp2 HG00438.hp1 HG00544.hp1 others(68): Show |
intron_variant | MODIFIER | c.-28-11340_-28-1133 others(24): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130362252 | |||||
| chr3:130362252
|
T | TTCTCTCT others(13): Show |
2 | a0025c0041t0001g0177a0025c0041t0001g0178 | 2 | HG02818.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.-28-11352_-28-1135 others(24): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130362252 | |||||
| chr3:130362272
|
T | C | 19 | a0001c0001t0001g0106a0002c0002t0001g0110a0002c0047t0001g0111others(16): Show | 19 | HG00140.hp2 HG00438.hp2 HG00735.hp2 others(16): Show |
intron_variant | MODIFIER | c.-28-11339T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362272 | ||||||
| chr3:130362274
|
G | C | 19 | a0001c0001t0001g0106a0002c0002t0001g0110a0002c0047t0001g0111others(16): Show | 19 | HG00140.hp2 HG00438.hp2 HG00735.hp2 others(16): Show |
intron_variant | MODIFIER | c.-28-11337G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362274 | ||||||
| chr3:130362280
|
G | C | 19 | a0001c0001t0001g0106a0002c0002t0001g0110a0002c0047t0001g0111others(16): Show | 19 | HG00140.hp2 HG00438.hp2 HG00735.hp2 others(16): Show |
intron_variant | MODIFIER | c.-28-11331G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362280 | ||||||
| chr3:130362284
|
T | C | 275 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(272): Show | 285 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(282): Show |
intron_variant | MODIFIER | c.-28-11327T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362284 | ||||||
| chr3:130362288
|
C | T | 5 | a0012c0011t0002g0209a0013c0016t0010g0013a0013c0016t0010g0014others(2): Show | 5 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.-28-11323C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362288 | ||||||
| chr3:130362289
|
C | CAT | 2 | a0007c0008t0003g0001a0029c0087t0006g0076 | 3 | HG01123.hp1 HG03491.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.-28-11285_-28-1128 others(6): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130362289 | |||||
| chr3:130362289
|
C | CATATATA others(3): Show |
1 | a0081c0080t0011g0059 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.-28-11293_-28-1128 others(14): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130362289 | |||||
| chr3:130362289
|
C | CATATATA others(5): Show |
2 | a0007c0008t0003g0062a0007c0008t0003g0063 | 2 | HG01257.hp1 HG01258.hp2 |
intron_variant | MODIFIER | c.-28-11295_-28-1128 others(16): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130362289 | |||||
| chr3:130362289
|
C | T | 17 | a0001c0001t0001g0106a0002c0002t0001g0110a0002c0047t0001g0111others(14): Show | 17 | HG00140.hp2 HG00438.hp2 HG00735.hp2 others(14): Show |
intron_variant | MODIFIER | c.-28-11322C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362289 | ||||||
| chr3:130362290
|
A | C | 12 | a0001c0001t0001g0106a0002c0002t0001g0110a0002c0047t0001g0111others(9): Show | 12 | HG00438.hp2 HG00735.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.-28-11321A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362290 | ||||||
| chr3:130362290
|
A | G | 5 | a0012c0011t0002g0209a0013c0016t0010g0013a0013c0016t0010g0014others(2): Show | 5 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.-28-11321A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362290 | ||||||
| chr3:130362292
|
A | C | 17 | a0001c0001t0001g0106a0002c0002t0001g0110a0002c0047t0001g0111others(14): Show | 17 | HG00140.hp2 HG00438.hp2 HG01361.hp2 others(14): Show |
intron_variant | MODIFIER | c.-28-11319A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362292 | ||||||
| chr3:130362292
|
A | T | 2 | a0016c0020t0001g0272a0044c0105t0006g0214 | 2 | HG00735.hp2 HG01891.hp2 |
intron_variant | MODIFIER | c.-28-11319A>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362292 | ||||||
| chr3:130362294
|
A | C | 9 | a0001c0001t0001g0106a0003c0004t0001g0020a0003c0079t0001g0107others(6): Show | 9 | HG00140.hp2 HG01361.hp2 HG01891.hp1 others(6): Show |
intron_variant | MODIFIER | c.-28-11317A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362294 | ||||||
| chr3:130362294
|
A | G | 3 | a0008c0010t0001g0108a0016c0020t0001g0272a0044c0105t0006g0214 | 3 | HG00735.hp2 HG01891.hp2 HG04199.hp2 |
intron_variant | MODIFIER | c.-28-11317A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362294 | ||||||
| chr3:130362294
|
A | T | 6 | a0002c0002t0001g0110a0002c0047t0001g0111a0021c0096t0001g0109others(3): Show | 6 | HG03688.hp1 NA18947.hp1 NA18950.hp1 others(3): Show |
intron_variant | MODIFIER | c.-28-11317A>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362294 | ||||||
| chr3:130362296
|
A | C | 3 | a0008c0010t0001g0108a0016c0020t0001g0272a0044c0105t0006g0214 | 3 | HG00735.hp2 HG01891.hp2 HG04199.hp2 |
intron_variant | MODIFIER | c.-28-11315A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362296 | ||||||
| chr3:130362296
|
A | G | 13 | a0001c0001t0001g0106a0002c0002t0001g0110a0002c0047t0001g0111others(10): Show | 13 | HG00140.hp2 HG00438.hp2 HG01361.hp2 others(10): Show |
intron_variant | MODIFIER | c.-28-11315A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362296 | ||||||
| chr3:130362296
|
A | T | 3 | a0003c0004t0001g0020a0003c0079t0001g0107a0011c0012t0001g0023 | 3 | HG01891.hp1 NA18522.hp2 NA19077.hp1 |
intron_variant | MODIFIER | c.-28-11315A>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362296 | ||||||
| chr3:130362298
|
A | C | 16 | a0001c0001t0001g0106a0002c0002t0001g0110a0002c0047t0001g0111others(13): Show | 16 | HG00140.hp2 HG00438.hp2 HG00735.hp2 others(13): Show |
intron_variant | MODIFIER | c.-28-11313A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362298 | ||||||
| chr3:130362298
|
A | G | 3 | a0003c0004t0001g0020a0003c0079t0001g0107a0011c0012t0001g0023 | 3 | HG01891.hp1 NA18522.hp2 NA19077.hp1 |
intron_variant | MODIFIER | c.-28-11313A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362298 | ||||||
| chr3:130362300
|
A | C | 16 | a0001c0001t0001g0106a0002c0002t0001g0110a0002c0047t0001g0111others(13): Show | 16 | HG00140.hp2 HG00438.hp2 HG01361.hp2 others(13): Show |
intron_variant | MODIFIER | c.-28-11311A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362300 | ||||||
| chr3:130362300
|
A | G | 3 | a0008c0010t0001g0108a0016c0020t0001g0272a0044c0105t0006g0214 | 3 | HG00735.hp2 HG01891.hp2 HG04199.hp2 |
intron_variant | MODIFIER | c.-28-11311A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362300 | ||||||
| chr3:130362302
|
A | C | 11 | a0003c0004t0001g0020a0003c0079t0001g0107a0008c0010t0001g0108others(8): Show | 11 | HG00140.hp2 HG00735.hp2 HG01361.hp2 others(8): Show |
intron_variant | MODIFIER | c.-28-11309A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362302 | ||||||
| chr3:130362302
|
A | G | 8 | a0001c0001t0001g0106a0002c0002t0001g0110a0002c0047t0001g0111others(5): Show | 8 | HG00438.hp2 HG03669.hp2 HG03688.hp1 others(5): Show |
intron_variant | MODIFIER | c.-28-11309A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362302 | ||||||
| chr3:130362304
|
A | C | 16 | a0001c0001t0001g0106a0002c0002t0001g0110a0002c0047t0001g0111others(13): Show | 16 | HG00140.hp2 HG00438.hp2 HG00735.hp2 others(13): Show |
intron_variant | MODIFIER | c.-28-11307A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362304 | ||||||
| chr3:130362304
|
A | G | 3 | a0003c0004t0001g0020a0003c0079t0001g0107a0011c0012t0001g0023 | 3 | HG01891.hp1 NA18522.hp2 NA19077.hp1 |
intron_variant | MODIFIER | c.-28-11307A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362304 | ||||||
| chr3:130362304
|
ATATATAT others(17): Show |
A | 3 | a0003c0004t0011g0073a0034c0027t0001g0006a0035c0028t0001g0104 | 4 | HG01175.hp1 HG01256.hp2 HG01258.hp1 others(1): Show |
intron_variant | MODIFIER | c.-28-11305_-28-1128 others(28): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130362304 | |||||
| chr3:130362304
|
ATATATAT others(18): Show |
A | 4 | a0008c0010t0001g0169a0035c0028t0001g0099a0062c0054t0001g0160others(1): Show | 4 | HG01081.hp1 HG03491.hp2 HG03834.hp1 others(1): Show |
intron_variant | MODIFIER | c.-28-11305_-28-1128 others(29): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130362304 | |||||
| chr3:130362305
|
T | C | 5 | a0012c0011t0002g0209a0013c0016t0010g0013a0013c0016t0010g0014others(2): Show | 5 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.-28-11306T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362305 | ||||||
| chr3:130362306
|
A | C | 14 | a0001c0001t0001g0106a0002c0002t0001g0110a0002c0047t0001g0111others(11): Show | 14 | HG00438.hp2 HG00735.hp2 HG01891.hp1 others(11): Show |
intron_variant | MODIFIER | c.-28-11305A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362306 | ||||||
| chr3:130362306
|
ATATATAT others(17): Show |
A | 7 | a0002c0002t0001g0172a0003c0004t0001g0155a0018c0018t0001g0158others(4): Show | 7 | HG02615.hp1 HG02717.hp1 HG02896.hp1 others(4): Show |
intron_variant | MODIFIER | c.-28-11303_-28-1128 others(28): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130362306 | |||||
| chr3:130362306
|
ATATATAT others(18): Show |
A | 72 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0121others(69): Show | 74 | HG00408.hp2 HG00438.hp1 HG00544.hp1 others(71): Show |
intron_variant | MODIFIER | c.-28-11303_-28-1127 others(29): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130362306 | |||||
| chr3:130362306
|
ATATATAT others(19): Show |
A | 4 | a0008c0010t0001g0119a0010c0007t0009g0162a0033c0029t0001g0120others(1): Show | 4 | HG01943.hp1 HG02615.hp2 NA19060.hp2 others(1): Show |
intron_variant | MODIFIER | c.-28-11303_-28-1127 others(30): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130362306 | |||||
| chr3:130362306
|
ATATATAT others(20): Show |
A | 2 | a0033c0029t0001g0117a0063c0055t0001g0116 | 2 | HG02258.hp2 HG02647.hp2 |
intron_variant | MODIFIER | c.-28-11303_-28-1127 others(31): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130362306 | |||||
| chr3:130362308
|
A | C | 14 | a0001c0001t0001g0106a0002c0002t0001g0110a0002c0047t0001g0111others(11): Show | 14 | HG00438.hp2 HG00735.hp2 HG01891.hp1 others(11): Show |
intron_variant | MODIFIER | c.-28-11303A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362308 | ||||||
| chr3:130362308
|
ATATATAT others(16): Show |
A | 8 | a0001c0001t0002g0224a0001c0001t0002g0254a0001c0014t0002g0255others(5): Show | 8 | HG00280.hp2 HG01256.hp1 HG02080.hp1 others(5): Show |
intron_variant | MODIFIER | c.-28-11301_-28-1127 others(27): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130362308 | |||||
| chr3:130362308
|
ATATATAT others(17): Show |
A | 1 | a0014c0013t0001g0115 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.-28-11301_-28-1127 others(28): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130362308 | |||||
| chr3:130362308
|
ATATATAT others(18): Show |
A | 1 | a0014c0013t0001g0098 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.-28-11301_-28-1127 others(29): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130362308 | |||||
| chr3:130362308
|
ATATATAT others(19): Show |
A | 2 | a0019c0017t0003g0278a0019c0017t0003g0279 | 2 | HG00639.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.-28-11301_-28-1127 others(30): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130362308 | |||||
| chr3:130362309
|
T | C | 3 | a0008c0010t0001g0108a0016c0020t0001g0272a0044c0105t0006g0214 | 3 | HG00735.hp2 HG01891.hp2 HG04199.hp2 |
intron_variant | MODIFIER | c.-28-11302T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362309 | ||||||
| chr3:130362310
|
A | C | 11 | a0001c0001t0001g0106a0002c0002t0001g0110a0002c0047t0001g0111others(8): Show | 11 | HG00438.hp2 HG01891.hp1 HG03669.hp2 others(8): Show |
intron_variant | MODIFIER | c.-28-11301A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362310 | ||||||
| chr3:130362310
|
ATATATAT others(16): Show |
A | 51 | a0001c0001t0001g0186a0001c0001t0002g0219a0001c0001t0002g0220others(48): Show | 53 | HG00408.hp1 HG00609.hp1 HG00642.hp1 others(50): Show |
intron_variant | MODIFIER | c.-28-11299_-28-1127 others(27): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130362310 | |||||
| chr3:130362310
|
ATATATAT others(17): Show |
A | 4 | a0019c0017t0003g0277a0037c0032t0001g0181a0071c0071t0001g0180others(1): Show | 4 | HG02280.hp2 HG02647.hp1 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.-28-11299_-28-1127 others(28): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130362310 | |||||
| chr3:130362310
|
ATATATAT others(18): Show |
A | 1 | a0090c0052t0003g0011 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-28-11299_-28-1127 others(29): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130362310 | |||||
| chr3:130362311
|
T | C | 8 | a0001c0001t0001g0106a0002c0002t0001g0110a0002c0047t0001g0111others(5): Show | 8 | HG00438.hp2 HG03669.hp2 HG03688.hp1 others(5): Show |
intron_variant | MODIFIER | c.-28-11300T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362311 | ||||||
| chr3:130362312
|
A | C | 3 | a0003c0004t0001g0020a0003c0079t0001g0107a0011c0012t0001g0023 | 3 | HG01891.hp1 NA18522.hp2 NA19077.hp1 |
intron_variant | MODIFIER | c.-28-11299A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362312 | ||||||
| chr3:130362312
|
ATATATAT others(13): Show |
A | 3 | a0004c0003t0003g0087a0011c0012t0003g0089a0029c0088t0014g0088 | 3 | HG02717.hp2 HG03579.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.-28-11297_-28-1127 others(24): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130362312 | |||||
| chr3:130362312
|
ATATATAT others(14): Show |
A | 4 | a0001c0001t0002g0010a0001c0001t0002g0256a0006c0005t0002g0228others(1): Show | 5 | HG01070.hp1 HG01071.hp1 HG01071.hp2 others(2): Show |
intron_variant | MODIFIER | c.-28-11297_-28-1127 others(25): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130362312 | |||||
| chr3:130362312
|
ATATATAT others(21): Show |
A | 2 | a0078c0062t0003g0216a0079c0063t0003g0215 | 2 | HG01109.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.-28-11297_-28-1127 others(32): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130362312 | |||||
| chr3:130362313
|
T | C | 3 | a0003c0004t0001g0020a0003c0079t0001g0107a0011c0012t0001g0023 | 3 | HG01891.hp1 NA18522.hp2 NA19077.hp1 |
intron_variant | MODIFIER | c.-28-11298T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362313 | ||||||
| chr3:130362314
|
ATATATAT others(7): Show |
A | 1 | a0012c0011t0002g0206 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.-28-11295_-28-1128 others(18): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130362314 | |||||
| chr3:130362314
|
ATATATAT others(9): Show |
A | 2 | a0001c0001t0002g0198a0004c0003t0002g0197 | 2 | HG00140.hp1 HG02683.hp1 |
intron_variant | MODIFIER | c.-28-11295_-28-1128 others(20): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130362314 | |||||
| chr3:130362314
|
ATATATAT others(13): Show |
A | 13 | a0001c0001t0002g0189a0001c0001t0002g0190a0001c0001t0002g0191others(10): Show | 13 | HG00639.hp2 HG01169.hp2 HG01981.hp2 others(10): Show |
intron_variant | MODIFIER | c.-28-11295_-28-1127 others(24): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130362314 | |||||
| chr3:130362316
|
ATATATAT others(6): Show |
A | 1 | a0052c0101t0003g0061 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.-28-11293_-28-1128 others(17): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130362316 | |||||
| chr3:130362316
|
ATATATAT others(7): Show |
A | 4 | a0005c0006t0004g0047a0005c0006t0004g0048a0012c0011t0002g0205others(1): Show | 4 | NA18906.hp2 NA19004.hp2 NA19065.hp1 others(1): Show |
intron_variant | MODIFIER | c.-28-11293_-28-1128 others(18): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130362316 | |||||
| chr3:130362316
|
ATATATAT others(9): Show |
A | 16 | a0004c0003t0002g0194a0005c0006t0007g0007a0009c0009t0002g0096others(13): Show | 18 | HG00280.hp1 HG01106.hp1 HG01123.hp2 others(15): Show |
intron_variant | MODIFIER | c.-28-11293_-28-1127 others(20): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130362316 | |||||
| chr3:130362316
|
ATATATAT others(10): Show |
A | 2 | a0004c0003t0002g0199a0083c0046t0007g0033 | 2 | NA18955.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.-28-11293_-28-1127 others(21): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130362316 | |||||
| chr3:130362318
|
ATATATAT others(6): Show |
A | 1 | a0092c0044t0004g0046 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.-28-11291_-28-1127 others(17): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130362318 | |||||
| chr3:130362318
|
ATATATAT others(7): Show |
A | 10 | a0004c0003t0001g0207a0005c0006t0004g0044a0005c0006t0004g0049others(7): Show | 10 | HG00597.hp2 HG01109.hp1 HG02523.hp1 others(7): Show |
intron_variant | MODIFIER | c.-28-11291_-28-1127 others(18): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130362318 | |||||
| chr3:130362318
|
ATATATAT others(9): Show |
A | 1 | a0004c0003t0002g0193 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.-28-11291_-28-1127 others(20): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130362318 | |||||
| chr3:130362320
|
ATATATAT others(5): Show |
A | 4 | a0005c0006t0004g0071a0009c0009t0002g0094a0012c0011t0005g0043others(1): Show | 4 | HG02257.hp2 HG03942.hp2 NA19056.hp2 others(1): Show |
intron_variant | MODIFIER | c.-28-11289_-28-1127 others(16): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130362320 | |||||
| chr3:130362320
|
ATATATAT others(7): Show |
A | 2 | a0012c0011t0002g0208a0065c0060t0005g0042 | 2 | HG00597.hp1 HG02155.hp2 |
intron_variant | MODIFIER | c.-28-11289_-28-1127 others(18): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130362320 | |||||
| chr3:130362322
|
ATATATTT others(3): Show |
A | 1 | a0013c0016t0010g0016 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.-28-11287_-28-1127 others(14): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130362322 | |||||
| chr3:130362322
|
ATATATTT others(5): Show |
A | 1 | a0002c0002t0002g0032 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.-28-11287_-28-1127 others(16): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130362322 | |||||
| chr3:130362324
|
A | AT | 2 | a0023c0021t0006g0002a0038c0043t0001g0183 | 3 | HG00738.hp2 HG01169.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.-28-11286dupT | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130362324 | |||||
| chr3:130362326
|
A | T | 4 | a0023c0021t0006g0002a0023c0021t0006g0080a0031c0037t0004g0037others(1): Show | 5 | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(2): Show |
intron_variant | MODIFIER | c.-28-11285A>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362326 | ||||||
| chr3:130362326
|
ATTT | A | 7 | a0002c0002t0001g0110a0002c0047t0001g0111a0004c0003t0001g0022others(4): Show | 7 | HG00438.hp2 HG03688.hp1 NA18947.hp1 others(4): Show |
intron_variant | MODIFIER | c.-28-11266_-28-1126 others(7): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130362326 | |||||
| chr3:130362327
|
T | TA | 5 | a0007c0008t0003g0066a0007c0064t0006g0038a0028c0036t0003g0075others(2): Show | 5 | HG00733.hp1 HG01358.hp2 HG02809.hp1 others(2): Show |
intron_variant | MODIFIER | c.-28-11284_-28-1128 others(5): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362327 | ||||||
| chr3:130362327
|
T | TATA | 4 | a0018c0018t0005g0053a0018c0018t0005g0054a0018c0018t0005g0055others(1): Show | 4 | HG02572.hp2 HG02809.hp2 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.-28-11284_-28-1128 others(7): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362327 | ||||||
| chr3:130362327
|
T | TATATATA others(6): Show |
1 | a0006c0005t0003g0017 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.-28-11284_-28-1128 others(17): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362327 | ||||||
| chr3:130362328
|
T | A | 9 | a0003c0004t0001g0020a0003c0079t0001g0107a0007c0008t0003g0001others(6): Show | 10 | HG01257.hp1 HG01258.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.-28-11283T>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362328 | ||||||
| chr3:130362329
|
T | A | 8 | a0007c0064t0006g0038a0011c0012t0001g0023a0018c0018t0005g0053others(5): Show | 8 | HG00733.hp1 HG02572.hp2 HG02809.hp1 others(5): Show |
intron_variant | MODIFIER | c.-28-11282T>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362329 | ||||||
| chr3:130362330
|
T | A | 5 | a0003c0004t0001g0020a0003c0079t0001g0107a0012c0011t0002g0209others(2): Show | 5 | HG01175.hp2 HG01891.hp1 HG02109.hp2 others(2): Show |
intron_variant | MODIFIER | c.-28-11281T>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362330 | ||||||
| chr3:130362331
|
T | A | 12 | a0002c0002t0001g0110a0002c0047t0001g0111a0004c0003t0001g0022others(9): Show | 12 | HG00438.hp2 HG02572.hp2 HG02809.hp1 others(9): Show |
intron_variant | MODIFIER | c.-28-11280T>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362331 | ||||||
| chr3:130362332
|
T | A | 2 | a0012c0011t0002g0209a0039c0031t0006g0067 | 2 | HG01175.hp2 NA19005.hp2 |
intron_variant | MODIFIER | c.-28-11279T>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362332 | ||||||
| chr3:130362333
|
T | A | 1 | a0040c0042t0011g0090 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.-28-11278T>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362333 | ||||||
| chr3:130362334
|
T | A | 1 | a0012c0011t0002g0209 | 1 | NA19005.hp2 | intron_variant | MODIFIER | c.-28-11277T>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362334 | ||||||
| chr3:130362335
|
T | A | 1 | a0040c0042t0011g0090 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.-28-11276T>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362335 | ||||||
| chr3:130362358
|
G | A | 1 | a0044c0105t0006g0214 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.-28-11253G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362358 | ||||||
| chr3:130362413
|
C | A | 11 | a0007c0008t0003g0001a0007c0008t0003g0062a0007c0008t0003g0063others(8): Show | 12 | HG00733.hp1 HG01069.hp1 HG01175.hp2 others(9): Show |
intron_variant | MODIFIER | c.-28-11198C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362413 | ||||||
| chr3:130362480
|
G | A | 36 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(33): Show | 38 | HG00438.hp1 HG00621.hp1 HG00621.hp2 others(35): Show |
intron_variant | MODIFIER | c.-28-11131G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362480 | ||||||
| chr3:130362613
|
T | C | 1 | a0090c0052t0003g0011 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-28-10998T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362613 | ||||||
| chr3:130362663
|
A | G | 1 | a0011c0012t0003g0089 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.-28-10948A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362663 | ||||||
| chr3:130362732
|
G | T | 2 | a0006c0005t0002g0252a0006c0005t0003g0081 | 2 | HG01255.hp1 HG02630.hp2 |
intron_variant | MODIFIER | c.-28-10879G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130362732 | ||||||
| chr3:130363671
|
A | G | 11 | a0013c0016t0010g0013a0013c0016t0010g0014a0013c0016t0010g0015others(8): Show | 11 | HG00140.hp2 HG00639.hp1 HG01361.hp2 others(8): Show |
intron_variant | MODIFIER | c.-28-9940A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130363671 | ||||||
| chr3:130363720
|
G | C | 1 | a0020c0023t0012g0029 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.-28-9891G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130363720 | ||||||
| chr3:130363731
|
C | T | 4 | a0019c0017t0003g0277a0019c0017t0003g0278a0019c0017t0003g0279others(1): Show | 4 | HG00639.hp1 HG02896.hp2 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.-28-9880C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130363731 | ||||||
| chr3:130363739
|
T | C | 3 | a0019c0017t0003g0277a0019c0017t0003g0278a0019c0017t0003g0279 | 3 | HG00639.hp1 HG02896.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.-28-9872T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130363739 | ||||||
| chr3:130363804
|
T | C | 274 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(271): Show | 284 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(281): Show |
intron_variant | MODIFIER | c.-28-9807T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130363804 | ||||||
| chr3:130363910
|
T | G | 5 | a0013c0016t0010g0013a0013c0016t0010g0014a0013c0016t0010g0015others(2): Show | 5 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.-28-9701T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130363910 | ||||||
| chr3:130363973
|
G | C | 1 | a0047c0084t0002g0271 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.-28-9638G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130363973 | ||||||
| chr3:130364111
|
A | G | 1 | a0082c0045t0001g0118 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.-28-9500A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130364111 | ||||||
| chr3:130364253
|
C | A | 1 | a0007c0008t0003g0001 | 2 | HG03491.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.-28-9358C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130364253 | ||||||
| chr3:130364276
|
A | G | 102 | a0001c0001t0001g0106a0002c0002t0001g0004a0002c0002t0001g0103others(99): Show | 105 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(102): Show |
intron_variant | MODIFIER | c.-28-9335A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130364276 | ||||||
| chr3:130364309
|
T | A | 274 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(271): Show | 284 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(281): Show |
intron_variant | MODIFIER | c.-28-9302T>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130364309 | ||||||
| chr3:130364324
|
C | A | 3 | a0019c0017t0003g0277a0019c0017t0003g0278a0019c0017t0003g0279 | 3 | HG00639.hp1 HG02896.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.-28-9287C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130364324 | ||||||
| chr3:130364441
|
T | A | 30 | a0001c0001t0001g0106a0003c0004t0001g0018a0003c0004t0001g0019others(27): Show | 31 | HG00544.hp1 HG00609.hp2 HG01081.hp1 others(28): Show |
intron_variant | MODIFIER | c.-28-9170T>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130364441 | ||||||
| chr3:130364879
|
T | C | 5 | a0004c0003t0001g0138a0008c0010t0001g0141a0008c0010t0001g0142others(2): Show | 5 | HG00544.hp1 HG01255.hp2 HG01993.hp1 others(2): Show |
intron_variant | MODIFIER | c.-28-8732T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130364879 | ||||||
| chr3:130365048
|
A | G | 1 | a0078c0062t0003g0216 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.-28-8563A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130365048 | ||||||
| chr3:130365269
|
A | ATGTTT | 4 | a0001c0014t0002g0255a0037c0032t0001g0181a0071c0071t0001g0180others(1): Show | 4 | HG02080.hp1 HG02280.hp2 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.-28-8319_-28-8315d others(7): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130365269 | |||||
| chr3:130365269
|
A | ATGTTTTG others(3): Show |
1 | a0013c0075t0016g0012 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.-28-8324_-28-8315d others(12): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130365269 | |||||
| chr3:130365269
|
A | ATGTTTTG others(8): Show |
4 | a0013c0016t0010g0013a0013c0016t0010g0014a0013c0016t0010g0015others(1): Show | 4 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(1): Show |
intron_variant | MODIFIER | c.-28-8329_-28-8315d others(17): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130365269 | |||||
| chr3:130365269
|
ATGTTTTG others(3): Show |
A | 3 | a0006c0005t0002g0008a0042c0103t0002g0091a0043c0104t0002g0092 | 4 | HG02965.hp2 HG03139.hp2 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.-28-8324_-28-8315d others(12): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130365269 | |||||
| chr3:130365330
|
A | T | 3 | a0037c0032t0001g0181a0071c0071t0001g0180a0072c0072t0001g0182 | 3 | HG02280.hp2 HG02647.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.-28-8281A>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130365330 | ||||||
| chr3:130365338
|
C | T | 1 | a0082c0045t0001g0118 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.-28-8273C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130365338 | ||||||
| chr3:130365421
|
G | A | 3 | a0019c0017t0003g0277a0019c0017t0003g0278a0019c0017t0003g0279 | 3 | HG00639.hp1 HG02896.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.-28-8190G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130365421 | ||||||
| chr3:130365438
|
C | T | 1 | a0073c0066t0006g0060 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.-28-8173C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130365438 | ||||||
| chr3:130365439
|
G | A | 1 | a0005c0006t0004g0071 | 1 | NA19062.hp2 | intron_variant | MODIFIER | c.-28-8172G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130365439 | ||||||
| chr3:130365856
|
G | A | 1 | a0001c0001t0002g0260 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.-28-7755G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130365856 | ||||||
| chr3:130366085
|
G | A | 1 | a0009c0009t0002g0100 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.-28-7526G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130366085 | ||||||
| chr3:130366096
|
T | C | 102 | a0001c0001t0001g0106a0002c0002t0001g0004a0002c0002t0001g0103others(99): Show | 105 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(102): Show |
intron_variant | MODIFIER | c.-28-7515T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130366096 | ||||||
| chr3:130366104
|
G | A | 1 | a0089c0102t0005g0056 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.-28-7507G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130366104 | ||||||
| chr3:130366125
|
T | G | 1 | a0007c0081t0002g0262 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.-28-7486T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130366125 | ||||||
| chr3:130366360
|
G | A | 21 | a0001c0001t0002g0198a0002c0002t0002g0032a0004c0003t0002g0193others(18): Show | 23 | HG00140.hp1 HG00280.hp1 HG01106.hp1 others(20): Show |
intron_variant | MODIFIER | c.-28-7251G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130366360 | ||||||
| chr3:130366382
|
T | G | 12 | a0007c0008t0003g0001a0007c0008t0003g0062a0007c0008t0003g0063others(9): Show | 13 | HG00733.hp1 HG01069.hp1 HG01109.hp1 others(10): Show |
intron_variant | MODIFIER | c.-28-7229T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130366382 | ||||||
| chr3:130366532
|
G | A | 3 | a0019c0017t0003g0277a0019c0017t0003g0278a0019c0017t0003g0279 | 3 | HG00639.hp1 HG02896.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.-28-7079G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130366532 | ||||||
| chr3:130366592
|
T | C | 3 | a0005c0006t0004g0044a0005c0006t0004g0047a0005c0006t0004g0051 | 3 | NA19063.hp1 NA19065.hp1 NA19068.hp2 |
intron_variant | MODIFIER | c.-28-7019T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130366592 | ||||||
| chr3:130366602
|
G | A | 1 | a0011c0012t0003g0089 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.-28-7009G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130366602 | ||||||
| chr3:130366623
|
A | T | 279 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(276): Show | 289 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(286): Show |
intron_variant | MODIFIER | c.-28-6988A>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130366623 | ||||||
| chr3:130366753
|
T | C | 3 | a0037c0032t0001g0181a0071c0071t0001g0180a0072c0072t0001g0182 | 3 | HG02280.hp2 HG02647.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.-28-6858T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130366753 | ||||||
| chr3:130366940
|
C | T | 5 | a0013c0016t0010g0013a0013c0016t0010g0014a0013c0016t0010g0015others(2): Show | 5 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.-28-6671C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130366940 | ||||||
| chr3:130367022
|
T | G | 2 | a0002c0002t0001g0004a0002c0002t0001g0121 | 3 | NA18975.hp2 NA19065.hp2 NA19070.hp2 |
intron_variant | MODIFIER | c.-28-6589T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130367022 | ||||||
| chr3:130367093
|
G | A | 3 | a0034c0027t0001g0006a0035c0028t0001g0099a0035c0028t0001g0104 | 4 | HG01081.hp1 HG01175.hp1 HG01256.hp2 others(1): Show |
intron_variant | MODIFIER | c.-28-6518G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130367093 | ||||||
| chr3:130367130
|
G | A | 3 | a0037c0032t0001g0181a0071c0071t0001g0180a0072c0072t0001g0182 | 3 | HG02280.hp2 HG02647.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.-28-6481G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130367130 | ||||||
| chr3:130367330
|
G | A | 1 | a0018c0018t0005g0053 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.-28-6281G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130367330 | ||||||
| chr3:130367508
|
G | A | 3 | a0019c0017t0003g0277a0019c0017t0003g0278a0019c0017t0003g0279 | 3 | HG00639.hp1 HG02896.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.-28-6103G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130367508 | ||||||
| chr3:130367904
|
G | A | 2 | a0001c0001t0002g0189a0001c0001t0002g0190 | 2 | HG00639.hp2 HG02698.hp1 |
intron_variant | MODIFIER | c.-28-5707G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130367904 | ||||||
| chr3:130368023
|
A | C | 39 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(36): Show | 41 | HG00438.hp1 HG00621.hp1 HG00621.hp2 others(38): Show |
intron_variant | MODIFIER | c.-28-5588A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130368023 | ||||||
| chr3:130368173
|
C | A | 3 | a0004c0003t0001g0027a0004c0003t0001g0028a0067c0058t0001g0024 | 3 | HG00408.hp2 NA18990.hp1 NA19083.hp2 |
intron_variant | MODIFIER | c.-28-5438C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130368173 | ||||||
| chr3:130368250
|
T | C | 12 | a0005c0006t0004g0044a0005c0006t0004g0047a0005c0006t0004g0048others(9): Show | 12 | HG00597.hp2 HG02155.hp2 HG03669.hp1 others(9): Show |
intron_variant | MODIFIER | c.-28-5361T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130368250 | ||||||
| chr3:130368411
|
T | C | 268 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(265): Show | 278 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(275): Show |
intron_variant | MODIFIER | c.-28-5200T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130368411 | ||||||
| chr3:130368539
|
G | A | 1 | a0014c0013t0001g0143 | 1 | NA18989.hp2 | intron_variant | MODIFIER | c.-28-5072G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130368539 | ||||||
| chr3:130368544
|
A | AGT | 45 | a0001c0001t0002g0198a0002c0002t0001g0004a0002c0002t0001g0103others(42): Show | 48 | HG00140.hp1 HG00438.hp1 HG00609.hp2 others(45): Show |
intron_variant | MODIFIER | c.-28-5066_-28-5065i others(4): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130368544 | |||||
| chr3:130368546
|
A | AGT | 11 | a0006c0005t0002g0228a0006c0005t0002g0230a0006c0005t0003g0017others(8): Show | 11 | HG00733.hp1 HG01069.hp2 HG01071.hp1 others(8): Show |
intron_variant | MODIFIER | c.-28-5048_-28-5047d others(4): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130368546 | |||||
| chr3:130368546
|
A | AGTGTGTG others(1): Show |
3 | a0019c0017t0003g0277a0019c0017t0003g0278a0019c0017t0003g0279 | 3 | HG00639.hp1 HG02896.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.-28-5054_-28-5047d others(10): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130368546 | |||||
| chr3:130368546
|
A | T | 47 | a0001c0001t0002g0198a0002c0002t0001g0004a0002c0002t0001g0103others(44): Show | 50 | HG00140.hp1 HG00438.hp1 HG00609.hp2 others(47): Show |
intron_variant | MODIFIER | c.-28-5065A>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130368546 | ||||||
| chr3:130368657
|
T | A | 74 | a0001c0001t0001g0186a0001c0001t0002g0010a0001c0001t0002g0189others(71): Show | 77 | HG00280.hp2 HG00408.hp1 HG00609.hp1 others(74): Show |
intron_variant | MODIFIER | c.-28-4954T>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130368657 | ||||||
| chr3:130368692
|
G | A | 6 | a0010c0007t0001g0170a0013c0016t0010g0013a0013c0016t0010g0014others(3): Show | 6 | HG00140.hp2 HG01361.hp2 HG02129.hp2 others(3): Show |
intron_variant | MODIFIER | c.-28-4919G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130368692 | ||||||
| chr3:130368763
|
T | C | 162 | a0001c0001t0001g0106a0001c0001t0003g0086a0002c0002t0001g0004others(159): Show | 167 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(164): Show |
intron_variant | MODIFIER | c.-28-4848T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130368763 | ||||||
| chr3:130368865
|
C | T | 1 | a0013c0016t0010g0013 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.-28-4746C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130368865 | ||||||
| chr3:130368871
|
G | C | 1 | a0013c0016t0010g0016 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.-28-4740G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130368871 | ||||||
| chr3:130368999
|
A | G | 42 | a0003c0004t0001g0018a0003c0004t0001g0019a0003c0004t0001g0093others(39): Show | 44 | HG00408.hp2 HG00544.hp1 HG00597.hp2 others(41): Show |
intron_variant | MODIFIER | c.-28-4612A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130368999 | ||||||
| chr3:130369025
|
G | A | 4 | a0020c0023t0005g0058a0020c0023t0012g0029a0020c0023t0012g0030others(1): Show | 4 | HG01981.hp2 HG03225.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.-28-4586G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130369025 | ||||||
| chr3:130369446
|
A | G | 1 | a0008c0010t0001g0142 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.-28-4165A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130369446 | ||||||
| chr3:130370016
|
C | T | 1 | a0076c0068t0003g0052 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.-28-3595C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130370016 | ||||||
| chr3:130370074
|
T | G | 1 | a0044c0105t0006g0214 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.-28-3537T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130370074 | ||||||
| chr3:130370110
|
G | A | 1 | a0006c0005t0001g0021 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.-28-3501G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130370110 | ||||||
| chr3:130370113
|
C | A | 1 | a0026c0038t0002g0263 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.-28-3498C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130370113 | ||||||
| chr3:130370134
|
A | G | 2 | a0042c0103t0002g0091a0043c0104t0002g0092 | 2 | HG06807.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.-28-3477A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130370134 | ||||||
| chr3:130370173
|
G | A | 4 | a0016c0020t0001g0171a0016c0020t0001g0272a0016c0020t0001g0273others(1): Show | 4 | HG01891.hp2 HG02976.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.-28-3438G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130370173 | ||||||
| chr3:130370216
|
G | T | 9 | a0028c0036t0003g0075a0028c0036t0003g0077a0029c0087t0006g0076others(6): Show | 9 | HG01123.hp1 HG02622.hp2 HG02809.hp1 others(6): Show |
intron_variant | MODIFIER | c.-28-3395G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130370216 | ||||||
| chr3:130370233
|
A | T | 69 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(66): Show | 72 | HG00280.hp2 HG00408.hp1 HG00609.hp1 others(69): Show |
intron_variant | MODIFIER | c.-28-3378A>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130370233 | ||||||
| chr3:130370412
|
G | T | 1 | a0076c0068t0003g0052 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.-28-3199G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130370412 | ||||||
| chr3:130370428
|
G | A | 65 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(62): Show | 68 | HG00280.hp2 HG00408.hp1 HG00609.hp1 others(65): Show |
intron_variant | MODIFIER | c.-28-3183G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130370428 | ||||||
| chr3:130370492
|
T | C | 5 | a0013c0016t0010g0013a0013c0016t0010g0014a0013c0016t0010g0015others(2): Show | 5 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.-28-3119T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130370492 | ||||||
| chr3:130370493
|
A | G | 3 | a0030c0035t0001g0217a0030c0035t0001g0218a0045c0077t0001g0176 | 3 | HG02572.hp1 HG03041.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-28-3118A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130370493 | ||||||
| chr3:130370516
|
A | G | 10 | a0028c0036t0003g0075a0028c0036t0003g0077a0029c0087t0006g0076others(7): Show | 10 | HG01123.hp1 HG02622.hp2 HG02809.hp1 others(7): Show |
intron_variant | MODIFIER | c.-28-3095A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130370516 | ||||||
| chr3:130370533
|
C | T | 1 | a0072c0072t0001g0182 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.-28-3078C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130370533 | ||||||
| chr3:130370573
|
T | C | 68 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(65): Show | 71 | HG00280.hp2 HG00408.hp1 HG00609.hp1 others(68): Show |
intron_variant | MODIFIER | c.-28-3038T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130370573 | ||||||
| chr3:130370670
|
C | T | 6 | a0013c0016t0010g0013a0013c0016t0010g0014a0013c0016t0010g0015others(3): Show | 6 | HG00140.hp2 HG00735.hp2 HG01361.hp2 others(3): Show |
intron_variant | MODIFIER | c.-28-2941C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130370670 | ||||||
| chr3:130370715
|
G | A | 1 | a0004c0003t0001g0026 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.-28-2896G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130370715 | ||||||
| chr3:130370846
|
C | T | 1 | a0018c0018t0005g0053 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.-28-2765C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130370846 | ||||||
| chr3:130370853
|
A | T | 2 | a0042c0103t0002g0091a0043c0104t0002g0092 | 2 | HG06807.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.-28-2758A>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130370853 | ||||||
| chr3:130371171
|
T | C | 6 | a0016c0020t0001g0171a0016c0020t0001g0272a0016c0020t0001g0273others(3): Show | 6 | HG01891.hp2 HG02818.hp1 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.-28-2440T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130371171 | ||||||
| chr3:130371191
|
C | T | 8 | a0013c0016t0010g0013a0013c0016t0010g0014a0013c0016t0010g0015others(5): Show | 8 | HG00140.hp2 HG01361.hp2 HG02572.hp1 others(5): Show |
intron_variant | MODIFIER | c.-28-2420C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130371191 | ||||||
| chr3:130371439
|
T | A | 5 | a0013c0016t0010g0013a0013c0016t0010g0014a0013c0016t0010g0015others(2): Show | 5 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.-28-2172T>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130371439 | ||||||
| chr3:130371441
|
A | G | 5 | a0013c0016t0010g0013a0013c0016t0010g0014a0013c0016t0010g0015others(2): Show | 5 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.-28-2170A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130371441 | ||||||
| chr3:130371582
|
C | CTTTTCGC others(337): Show |
1 | a0052c0101t0003g0061 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.-28-2024_-28-2023i others(346): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130371582 | |||||
| chr3:130371608
|
C | A | 7 | a0004c0003t0001g0022a0004c0003t0001g0026a0004c0003t0001g0027others(4): Show | 7 | HG00438.hp2 HG02027.hp2 HG02056.hp1 others(4): Show |
intron_variant | MODIFIER | c.-28-2003C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130371608 | ||||||
| chr3:130371618
|
A | G | 2 | a0025c0041t0001g0177a0025c0041t0001g0178 | 2 | HG02818.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.-28-1993A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130371618 | ||||||
| chr3:130371654
|
C | T | 2 | a0004c0003t0002g0193a0004c0003t0002g0194 | 2 | HG00280.hp1 HG01943.hp2 |
intron_variant | MODIFIER | c.-28-1957C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130371654 | ||||||
| chr3:130371708
|
A | G | 1 | a0069c0056t0001g0114 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.-28-1903A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130371708 | ||||||
| chr3:130371819
|
CAT | C | 6 | a0016c0020t0001g0171a0016c0020t0001g0272a0016c0020t0001g0273others(3): Show | 6 | HG01891.hp2 HG02818.hp1 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.-28-1788_-28-1787d others(4): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130371819 | |||||
| chr3:130371932
|
G | T | 1 | a0001c0001t0002g0254 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.-28-1679G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130371932 | ||||||
| chr3:130372116
|
GA | G | 5 | a0019c0017t0003g0277a0019c0017t0003g0278a0019c0017t0003g0279others(2): Show | 6 | HG00639.hp1 HG00738.hp2 HG01167.hp1 others(3): Show |
intron_variant | MODIFIER | c.-28-1491delA | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130372116 | |||||
| chr3:130372134
|
C | T | 4 | a0020c0023t0005g0058a0020c0023t0012g0029a0020c0023t0012g0030others(1): Show | 4 | HG01981.hp2 HG03225.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.-28-1477C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130372134 | ||||||
| chr3:130372276
|
A | G | 1 | a0013c0075t0016g0012 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.-28-1335A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130372276 | ||||||
| chr3:130372293
|
C | G | 13 | a0028c0036t0003g0075a0028c0036t0003g0077a0029c0087t0006g0076others(10): Show | 13 | HG01123.hp1 HG02280.hp2 HG02622.hp2 others(10): Show |
intron_variant | MODIFIER | c.-28-1318C>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130372293 | ||||||
| chr3:130372611
|
G | C | 1 | a0090c0052t0003g0011 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-28-1000G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130372611 | ||||||
| chr3:130372625
|
A | G | 4 | a0033c0029t0001g0117a0033c0029t0001g0120a0063c0055t0001g0116others(1): Show | 4 | HG02258.hp2 HG02615.hp2 HG02647.hp2 others(1): Show |
intron_variant | MODIFIER | c.-28-986A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130372625 | ||||||
| chr3:130372701
|
G | A | 1 | a0003c0004t0002g0221 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.-28-910G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130372701 | ||||||
| chr3:130372744
|
TG | T | 10 | a0016c0020t0001g0171a0016c0020t0001g0272a0016c0020t0001g0273others(7): Show | 10 | HG01891.hp2 HG02109.hp2 HG02630.hp1 others(7): Show |
intron_variant | MODIFIER | c.-28-862delG | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | 130372744 | |||||
| chr3:130372899
|
A | T | 1 | a0006c0005t0003g0041 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.-28-712A>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130372899 | ||||||
| chr3:130373323
|
T | C | 3 | a0030c0035t0001g0217a0030c0035t0001g0218a0045c0077t0001g0176 | 3 | HG02572.hp1 HG03041.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-28-288T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130373323 | ||||||
| chr3:130373521
|
A | G | 4 | a0002c0002t0001g0004a0002c0002t0001g0121a0002c0002t0001g0133others(1): Show | 5 | HG02083.hp2 NA18975.hp2 NA18990.hp2 others(2): Show |
intron_variant | MODIFIER | c.-28-90A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | 130373521 | ||||||
| chr3:130373709
|
T | C | 6 | a0006c0005t0003g0017a0006c0005t0003g0039a0006c0005t0003g0041others(3): Show | 6 | HG02109.hp1 HG02257.hp1 HG02258.hp1 others(3): Show |
splice_region_variant&intron_variant | LOW | c.67+4T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 2/40 | chr3 | 130373709 | ||||||
| chr3:130373802
|
C | CA | 3 | a0037c0032t0001g0181a0071c0071t0001g0180a0072c0072t0001g0182 | 3 | HG02280.hp2 HG02647.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.67+100dupA | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 2/40 | INFO_REALIGN_3_PRIME | chr3 | 130373802 | |||||
| chr3:130373902
|
C | T | 4 | a0042c0103t0002g0091a0043c0104t0002g0092a0076c0068t0003g0052others(1): Show | 4 | HG02109.hp2 HG02630.hp1 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.67+197C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 2/40 | chr3 | 130373902 | ||||||
| chr3:130373931
|
A | G | 106 | a0003c0004t0001g0018a0003c0004t0001g0019a0003c0004t0001g0020others(103): Show | 109 | HG00140.hp2 HG00408.hp2 HG00544.hp1 others(106): Show |
intron_variant | MODIFIER | c.67+226A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 2/40 | chr3 | 130373931 | ||||||
| chr3:130374246
|
C | T | 5 | a0013c0016t0010g0013a0013c0016t0010g0014a0013c0016t0010g0015others(2): Show | 5 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.67+541C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 2/40 | chr3 | 130374246 | ||||||
| chr3:130374293
|
A | G | 6 | a0016c0020t0001g0171a0016c0020t0001g0272a0016c0020t0001g0273others(3): Show | 6 | HG01891.hp2 HG02818.hp1 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.67+588A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 2/40 | chr3 | 130374293 | ||||||
| chr3:130374342
|
A | G | 59 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(56): Show | 61 | HG00280.hp2 HG00408.hp1 HG00609.hp1 others(58): Show |
intron_variant | MODIFIER | c.67+637A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 2/40 | chr3 | 130374342 | ||||||
| chr3:130374583
|
A | G | 1 | a0001c0001t0002g0251 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.67+878A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 2/40 | chr3 | 130374583 | ||||||
| chr3:130374768
|
G | A | 1 | a0005c0006t0004g0051 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.67+1063G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 2/40 | chr3 | 130374768 | ||||||
| chr3:130374823
|
G | A | 1 | a0009c0009t0002g0101 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.67+1118G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 2/40 | chr3 | 130374823 | ||||||
| chr3:130374946
|
A | G | 1 | a0045c0077t0001g0176 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.67+1241A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 2/40 | chr3 | 130374946 | ||||||
| chr3:130374971
|
G | C | 4 | a0013c0016t0010g0013a0013c0016t0010g0014a0013c0016t0010g0015others(1): Show | 4 | HG00140.hp2 HG01361.hp2 HG03831.hp2 others(1): Show |
intron_variant | MODIFIER | c.67+1266G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 2/40 | chr3 | 130374971 | ||||||
| chr3:130375146
|
G | A | 4 | a0007c0064t0006g0038a0018c0018t0005g0053a0018c0018t0005g0054others(1): Show | 4 | HG02572.hp2 HG02809.hp2 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.68-1091G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 2/40 | chr3 | 130375146 | ||||||
| chr3:130375408
|
A | G | 1 | a0044c0105t0006g0214 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.68-829A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 2/40 | chr3 | 130375408 | ||||||
| chr3:130375429
|
C | T | 9 | a0037c0032t0001g0181a0038c0043t0001g0183a0038c0043t0003g0079others(6): Show | 9 | HG02280.hp2 HG02622.hp2 HG02647.hp1 others(6): Show |
intron_variant | MODIFIER | c.68-808C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 2/40 | chr3 | 130375429 | ||||||
| chr3:130375478
|
C | T | 10 | a0037c0032t0001g0181a0038c0043t0001g0183a0038c0043t0003g0079others(7): Show | 10 | HG02280.hp2 HG02622.hp2 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.68-759C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 2/40 | chr3 | 130375478 | ||||||
| chr3:130375480
|
C | T | 3 | a0018c0018t0005g0053a0018c0018t0005g0054a0018c0018t0005g0055 | 3 | HG02572.hp2 HG02809.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.68-757C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 2/40 | chr3 | 130375480 | ||||||
| chr3:130375481
|
G | A | 1 | a0048c0099t0002g0229 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.68-756G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 2/40 | chr3 | 130375481 | ||||||
| chr3:130375561
|
G | A | 6 | a0038c0043t0001g0183a0038c0043t0003g0079a0040c0042t0011g0074others(3): Show | 6 | HG02622.hp2 HG02809.hp1 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.68-676G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 2/40 | chr3 | 130375561 | ||||||
| chr3:130375665
|
T | C | 1 | a0061c0053t0001g0175 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.68-572T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 2/40 | chr3 | 130375665 | ||||||
| chr3:130375682
|
G | C | 2 | a0042c0103t0002g0091a0043c0104t0002g0092 | 2 | HG06807.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.68-555G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 2/40 | chr3 | 130375682 | ||||||
| chr3:130375765
|
G | T | 6 | a0019c0017t0001g0153a0019c0017t0003g0277a0019c0017t0003g0278others(3): Show | 7 | HG00639.hp1 HG00738.hp2 HG01167.hp1 others(4): Show |
intron_variant | MODIFIER | c.68-472G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 2/40 | chr3 | 130375765 | ||||||
| chr3:130375799
|
A | T | 10 | a0007c0008t0003g0001a0007c0008t0003g0062a0007c0008t0003g0063others(7): Show | 11 | HG00733.hp1 HG01069.hp1 HG01175.hp2 others(8): Show |
intron_variant | MODIFIER | c.68-438A>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 2/40 | chr3 | 130375799 | ||||||
| chr3:130376077
|
A | G | 1 | a0019c0017t0003g0278 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.68-160A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 2/40 | chr3 | 130376077 | ||||||
| chr3:130376095
|
T | C | 10 | a0007c0008t0003g0001a0007c0008t0003g0062a0007c0008t0003g0063others(7): Show | 11 | HG00733.hp1 HG01069.hp1 HG01175.hp2 others(8): Show |
intron_variant | MODIFIER | c.68-142T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 2/40 | chr3 | 130376095 | ||||||
| chr3:130376153
|
C | T | 6 | a0038c0043t0001g0183a0038c0043t0003g0079a0040c0042t0011g0074others(3): Show | 6 | HG02622.hp2 HG02809.hp1 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.68-84C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 2/40 | chr3 | 130376153 | ||||||
| chr3:130376188
|
C | T | 145 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(142): Show | 150 | HG00140.hp2 HG00408.hp2 HG00544.hp1 others(147): Show |
intron_variant | MODIFIER | c.68-49C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 2/40 | chr3 | 130376188 | ||||||
| chr3:130376205
|
C | T | 2 | a0036c0030t0002g0212a0036c0030t0002g0213 | 2 | HG02895.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.68-32C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 2/40 | chr3 | 130376205 | ||||||
| chr3:130376915
|
T | C | 1 | a0059c0073t0003g0040 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.667+79T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 3/40 | chr3 | 130376915 | ||||||
| chr3:130376938
|
T | A | 1 | a0041c0033t0008g0173 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.667+102T>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 3/40 | chr3 | 130376938 | ||||||
| chr3:130376977
|
G | A | 9 | a0016c0020t0001g0171a0016c0020t0001g0272a0016c0020t0001g0273others(6): Show | 9 | HG00735.hp2 HG01891.hp2 HG02818.hp1 others(6): Show |
intron_variant | MODIFIER | c.667+141G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 3/40 | chr3 | 130376977 | ||||||
| chr3:130377063
|
G | T | 1 | a0064c0061t0002g0267 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.667+227G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 3/40 | chr3 | 130377063 | ||||||
| chr3:130377389
|
C | T | 1 | a0046c0083t0001g0113 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.667+553C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 3/40 | chr3 | 130377389 | ||||||
| chr3:130377466
|
G | C | 1 | a0073c0066t0006g0060 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.667+630G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 3/40 | chr3 | 130377466 | ||||||
| chr3:130377468
|
A | G | 1 | a0073c0066t0006g0060 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.667+632A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 3/40 | chr3 | 130377468 | ||||||
| chr3:130377534
|
G | A | 1 | a0073c0066t0006g0060 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.667+698G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 3/40 | chr3 | 130377534 | ||||||
| chr3:130377561
|
T | G | 1 | a0032c0100t0002g0232 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.667+725T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 3/40 | chr3 | 130377561 | ||||||
| chr3:130377587
|
G | T | 1 | a0044c0105t0006g0214 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.667+751G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 3/40 | chr3 | 130377587 | ||||||
| chr3:130377692
|
C | G | 2 | a0025c0041t0001g0177a0025c0041t0001g0178 | 2 | HG02818.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.667+856C>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 3/40 | chr3 | 130377692 | ||||||
| chr3:130377726
|
G | A | 87 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(84): Show | 91 | HG00140.hp2 HG00621.hp1 HG00639.hp1 others(88): Show |
intron_variant | MODIFIER | c.667+890G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 3/40 | chr3 | 130377726 | ||||||
| chr3:130377779
|
A | G | 139 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(136): Show | 144 | HG00140.hp2 HG00408.hp2 HG00544.hp1 others(141): Show |
intron_variant | MODIFIER | c.667+943A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 3/40 | chr3 | 130377779 | ||||||
| chr3:130377784
|
G | C | 1 | a0073c0066t0006g0060 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.667+948G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 3/40 | chr3 | 130377784 | ||||||
| chr3:130377910
|
A | G | 65 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(62): Show | 68 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(65): Show |
intron_variant | MODIFIER | c.667+1074A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 3/40 | chr3 | 130377910 | ||||||
| chr3:130378038
|
A | G | 137 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(134): Show | 142 | HG00140.hp2 HG00408.hp2 HG00544.hp1 others(139): Show |
intron_variant | MODIFIER | c.667+1202A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 3/40 | chr3 | 130378038 | ||||||
| chr3:130378059
|
A | G | 1 | a0012c0011t0005g0043 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.667+1223A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 3/40 | chr3 | 130378059 | ||||||
| chr3:130378109
|
G | A | 6 | a0013c0016t0001g0144a0013c0016t0010g0013a0013c0016t0010g0014others(3): Show | 6 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(3): Show |
intron_variant | MODIFIER | c.667+1273G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 3/40 | chr3 | 130378109 | ||||||
| chr3:130378221
|
G | T | 135 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(132): Show | 140 | HG00140.hp2 HG00408.hp2 HG00544.hp1 others(137): Show |
intron_variant | MODIFIER | c.668-1197G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 3/40 | chr3 | 130378221 | ||||||
| chr3:130378444
|
T | C | 7 | a0038c0043t0001g0183a0038c0043t0003g0079a0040c0042t0011g0074others(4): Show | 7 | HG02622.hp2 HG02809.hp1 HG02895.hp2 others(4): Show |
intron_variant | MODIFIER | c.668-974T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 3/40 | chr3 | 130378444 | ||||||
| chr3:130378802
|
C | CT | 135 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(132): Show | 140 | HG00140.hp2 HG00408.hp2 HG00544.hp1 others(137): Show |
intron_variant | MODIFIER | c.668-615dupT | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 3/40 | INFO_REALIGN_3_PRIME | chr3 | 130378802 | |||||
| chr3:130378992
|
A | G | 134 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(131): Show | 139 | HG00140.hp2 HG00544.hp1 HG00597.hp2 others(136): Show |
intron_variant | MODIFIER | c.668-426A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 3/40 | chr3 | 130378992 | ||||||
| chr3:130379019
|
A | C | 1 | a0033c0029t0001g0120 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.668-399A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 3/40 | chr3 | 130379019 | ||||||
| chr3:130379070
|
CGAT | C | 124 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(121): Show | 128 | HG00140.hp2 HG00408.hp2 HG00544.hp1 others(125): Show |
intron_variant | MODIFIER | c.668-346_668-344del others(3): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 3/40 | INFO_REALIGN_3_PRIME | chr3 | 130379070 | |||||
| chr3:130379072
|
ATGG | A | 4 | a0037c0032t0001g0181a0037c0032t0005g0057a0071c0071t0001g0180others(1): Show | 4 | HG02280.hp2 HG02622.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.668-338_668-336del others(3): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 3/40 | INFO_REALIGN_3_PRIME | chr3 | 130379072 | |||||
| chr3:130379226
|
AG | A | 5 | a0001c0001t0002g0010a0001c0001t0002g0233a0001c0001t0002g0234others(2): Show | 6 | HG00642.hp2 HG01070.hp1 HG01071.hp2 others(3): Show |
intron_variant | MODIFIER | c.668-191delG | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 3/40 | chr3 | 130379226 | ||||||
| chr3:130379268
|
T | A | 1 | a0002c0002t0001g0110 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.668-150T>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 3/40 | chr3 | 130379268 | ||||||
| chr3:130379284
|
A | G | 2 | a0007c0064t0006g0038a0059c0073t0003g0040 | 2 | HG02109.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.668-134A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 3/40 | chr3 | 130379284 | ||||||
| chr3:130379294
|
G | A | 3 | a0014c0013t0001g0143a0014c0013t0001g0145a0014c0013t0001g0146 | 3 | NA18982.hp1 NA18989.hp2 NA19080.hp1 |
intron_variant | MODIFIER | c.668-124G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 3/40 | chr3 | 130379294 | ||||||
| chr3:130379304
|
A | G | 10 | a0003c0004t0001g0020a0003c0004t0001g0155a0003c0004t0011g0073others(7): Show | 10 | HG01891.hp1 HG02615.hp1 HG02717.hp1 others(7): Show |
intron_variant | MODIFIER | c.668-114A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 3/40 | chr3 | 130379304 | ||||||
| chr3:130379355
|
A | G | 1 | a0060c0074t0002g0034 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.668-63A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 3/40 | chr3 | 130379355 | ||||||
| chr3:130379414
|
A | G | 4 | a0037c0032t0001g0181a0037c0032t0005g0057a0071c0071t0001g0180others(1): Show | 4 | HG02280.hp2 HG02622.hp1 HG02647.hp1 others(1): Show |
splice_region_variant&intron_variant | LOW | c.668-4A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 3/40 | chr3 | 130379414 | ||||||
| chr3:130380138
|
G | A | 2 | a0025c0041t0001g0177a0025c0041t0001g0178 | 2 | HG02818.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.1300+88G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 4/40 | chr3 | 130380138 | ||||||
| chr3:130380247
|
G | A | 1 | a0061c0053t0001g0175 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.1300+197G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 4/40 | chr3 | 130380247 | ||||||
| chr3:130380257
|
A | G | 1 | a0002c0034t0001g0154 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.1300+207A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 4/40 | chr3 | 130380257 | ||||||
| chr3:130380261
|
C | T | 141 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(138): Show | 146 | HG00140.hp2 HG00408.hp2 HG00544.hp1 others(143): Show |
intron_variant | MODIFIER | c.1300+211C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 4/40 | chr3 | 130380261 | ||||||
| chr3:130380317
|
A | G | 5 | a0013c0016t0001g0144a0013c0016t0010g0013a0013c0016t0010g0014others(2): Show | 5 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.1300+267A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 4/40 | chr3 | 130380317 | ||||||
| chr3:130380985
|
C | T | 4 | a0016c0020t0001g0171a0016c0020t0001g0272a0016c0020t0001g0273others(1): Show | 4 | HG01891.hp2 HG02976.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.1300+935C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 4/40 | chr3 | 130380985 | ||||||
| chr3:130381160
|
G | A | 1 | a0090c0052t0003g0011 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.1300+1110G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 4/40 | chr3 | 130381160 | ||||||
| chr3:130381390
|
A | G | 1 | a0058c0107t0003g0072 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.1300+1340A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 4/40 | chr3 | 130381390 | ||||||
| chr3:130381506
|
A | G | 145 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(142): Show | 150 | HG00140.hp2 HG00408.hp2 HG00544.hp1 others(147): Show |
intron_variant | MODIFIER | c.1300+1456A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 4/40 | chr3 | 130381506 | ||||||
| chr3:130381516
|
A | C | 1 | a0026c0038t0002g0261 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.1300+1466A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 4/40 | chr3 | 130381516 | ||||||
| chr3:130381653
|
A | T | 1 | a0090c0052t0003g0011 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.1300+1603A>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 4/40 | chr3 | 130381653 | ||||||
| chr3:130381662
|
G | C | 11 | a0007c0008t0003g0001a0007c0008t0003g0062a0007c0008t0003g0063others(8): Show | 12 | HG00733.hp1 HG01069.hp1 HG01175.hp2 others(9): Show |
intron_variant | MODIFIER | c.1300+1612G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 4/40 | chr3 | 130381662 | ||||||
| chr3:130381668
|
A | C | 1 | a0052c0101t0003g0061 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1300+1618A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 4/40 | chr3 | 130381668 | ||||||
| chr3:130382146
|
G | A | 1 | a0032c0100t0002g0232 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.1300+2096G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 4/40 | chr3 | 130382146 | ||||||
| chr3:130382207
|
A | C | 7 | a0038c0043t0001g0183a0038c0043t0003g0079a0040c0042t0011g0074others(4): Show | 7 | HG02622.hp2 HG02809.hp1 HG02895.hp2 others(4): Show |
intron_variant | MODIFIER | c.1300+2157A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 4/40 | chr3 | 130382207 | ||||||
| chr3:130382288
|
G | A | 7 | a0038c0043t0001g0183a0038c0043t0003g0079a0040c0042t0011g0074others(4): Show | 7 | HG02622.hp2 HG02809.hp1 HG02895.hp2 others(4): Show |
intron_variant | MODIFIER | c.1300+2238G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 4/40 | chr3 | 130382288 | ||||||
| chr3:130382314
|
G | T | 1 | a0077c0065t0001g0161 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.1300+2264G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 4/40 | chr3 | 130382314 | ||||||
| chr3:130382353
|
G | A | 44 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(41): Show | 46 | HG00621.hp1 HG01070.hp2 HG01074.hp1 others(43): Show |
intron_variant | MODIFIER | c.1300+2303G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 4/40 | chr3 | 130382353 | ||||||
| chr3:130382421
|
A | T | 1 | a0073c0066t0006g0060 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1300+2371A>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 4/40 | chr3 | 130382421 | ||||||
| chr3:130382480
|
C | CTTAA | 148 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(145): Show | 153 | HG00140.hp2 HG00408.hp2 HG00544.hp1 others(150): Show |
intron_variant | MODIFIER | c.1301-2321_1301-232 others(8): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 4/40 | INFO_REALIGN_3_PRIME | chr3 | 130382480 | |||||
| chr3:130382501
|
T | C | 58 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(55): Show | 61 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(58): Show |
intron_variant | MODIFIER | c.1301-2303T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 4/40 | chr3 | 130382501 | ||||||
| chr3:130382605
|
G | T | 145 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(142): Show | 150 | HG00140.hp2 HG00408.hp2 HG00544.hp1 others(147): Show |
intron_variant | MODIFIER | c.1301-2199G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 4/40 | chr3 | 130382605 | ||||||
| chr3:130382659
|
G | C | 1 | a0001c0001t0002g0260 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.1301-2145G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 4/40 | chr3 | 130382659 | ||||||
| chr3:130382705
|
A | G | 8 | a0003c0004t0001g0020a0003c0004t0011g0073a0003c0079t0001g0107others(5): Show | 8 | HG01891.hp1 HG02717.hp1 HG03098.hp1 others(5): Show |
intron_variant | MODIFIER | c.1301-2099A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 4/40 | chr3 | 130382705 | ||||||
| chr3:130382759
|
G | A | 6 | a0019c0017t0001g0153a0019c0017t0003g0277a0019c0017t0003g0278others(3): Show | 7 | HG00639.hp1 HG00738.hp2 HG01167.hp1 others(4): Show |
intron_variant | MODIFIER | c.1301-2045G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 4/40 | chr3 | 130382759 | ||||||
| chr3:130382824
|
G | A | 4 | a0073c0066t0006g0060a0076c0068t0003g0052a0077c0065t0001g0161others(1): Show | 4 | HG01109.hp1 HG02109.hp2 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.1301-1980G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 4/40 | chr3 | 130382824 | ||||||
| chr3:130382828
|
G | A | 2 | a0008c0010t0001g0141a0008c0010t0001g0142 | 2 | HG00544.hp1 HG01993.hp1 |
intron_variant | MODIFIER | c.1301-1976G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 4/40 | chr3 | 130382828 | ||||||
| chr3:130382869
|
G | T | 1 | a0044c0105t0006g0214 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.1301-1935G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 4/40 | chr3 | 130382869 | ||||||
| chr3:130382892
|
G | C | 5 | a0001c0001t0002g0010a0001c0001t0002g0233a0001c0001t0002g0234others(2): Show | 6 | HG00642.hp2 HG01070.hp1 HG01071.hp2 others(3): Show |
intron_variant | MODIFIER | c.1301-1912G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 4/40 | chr3 | 130382892 | ||||||
| chr3:130382938
|
C | T | 55 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(52): Show | 58 | HG00621.hp1 HG00639.hp1 HG00738.hp2 others(55): Show |
intron_variant | MODIFIER | c.1301-1866C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 4/40 | chr3 | 130382938 | ||||||
| chr3:130383040
|
A | C | 1 | a0005c0006t0008g0188 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.1301-1764A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 4/40 | chr3 | 130383040 | ||||||
| chr3:130383154
|
T | C | 48 | a0003c0004t0001g0018a0003c0004t0001g0019a0003c0004t0001g0020others(45): Show | 49 | HG00408.hp2 HG00544.hp1 HG00597.hp2 others(46): Show |
intron_variant | MODIFIER | c.1301-1650T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 4/40 | chr3 | 130383154 | ||||||
| chr3:130383246
|
G | A | 4 | a0016c0020t0001g0171a0016c0020t0001g0272a0016c0020t0001g0273others(1): Show | 4 | HG01891.hp2 HG02976.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.1301-1558G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 4/40 | chr3 | 130383246 | ||||||
| chr3:130383351
|
G | A | 11 | a0007c0008t0003g0001a0007c0008t0003g0062a0007c0008t0003g0063others(8): Show | 12 | HG00733.hp1 HG01069.hp1 HG01175.hp2 others(9): Show |
intron_variant | MODIFIER | c.1301-1453G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 4/40 | chr3 | 130383351 | ||||||
| chr3:130383544
|
C | T | 1 | a0073c0066t0006g0060 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1301-1260C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 4/40 | chr3 | 130383544 | ||||||
| chr3:130383601
|
A | G | 1 | a0073c0066t0006g0060 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1301-1203A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 4/40 | chr3 | 130383601 | ||||||
| chr3:130383913
|
GA | G | 6 | a0013c0016t0001g0144a0013c0016t0010g0013a0013c0016t0010g0014others(3): Show | 6 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(3): Show |
intron_variant | MODIFIER | c.1301-886delA | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 4/40 | INFO_REALIGN_3_PRIME | chr3 | 130383913 | |||||
| chr3:130384009
|
A | G | 1 | a0013c0016t0010g0013 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.1301-795A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 4/40 | chr3 | 130384009 | ||||||
| chr3:130384168
|
G | A | 1 | a0001c0001t0002g0219 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.1301-636G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 4/40 | chr3 | 130384168 | ||||||
| chr3:130384195
|
C | T | 7 | a0038c0043t0001g0183a0038c0043t0003g0079a0040c0042t0011g0074others(4): Show | 7 | HG02622.hp2 HG02809.hp1 HG02895.hp2 others(4): Show |
intron_variant | MODIFIER | c.1301-609C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 4/40 | chr3 | 130384195 | ||||||
| chr3:130384246
|
C | T | 145 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(142): Show | 150 | HG00140.hp2 HG00408.hp2 HG00544.hp1 others(147): Show |
intron_variant | MODIFIER | c.1301-558C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 4/40 | chr3 | 130384246 | ||||||
| chr3:130384355
|
A | G | 4 | a0037c0032t0001g0181a0037c0032t0005g0057a0071c0071t0001g0180others(1): Show | 4 | HG02280.hp2 HG02622.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.1301-449A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 4/40 | chr3 | 130384355 | ||||||
| chr3:130384464
|
A | C | 1 | a0002c0034t0001g0154 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.1301-340A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 4/40 | chr3 | 130384464 | ||||||
| chr3:130384634
|
A | C | 6 | a0013c0016t0001g0144a0013c0016t0010g0013a0013c0016t0010g0014others(3): Show | 6 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(3): Show |
intron_variant | MODIFIER | c.1301-170A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 4/40 | chr3 | 130384634 | ||||||
| chr3:130384689
|
G | A | 1 | a0060c0074t0002g0034 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1301-115G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 4/40 | chr3 | 130384689 | ||||||
| chr3:130384696
|
C | T | 145 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(142): Show | 150 | HG00140.hp2 HG00408.hp2 HG00544.hp1 others(147): Show |
intron_variant | MODIFIER | c.1301-108C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 4/40 | chr3 | 130384696 | ||||||
| chr3:130385463
|
C | T | 146 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(143): Show | 151 | HG00140.hp2 HG00408.hp2 HG00544.hp1 others(148): Show |
intron_variant | MODIFIER | c.1861+99C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 5/40 | chr3 | 130385463 | ||||||
| chr3:130385880
|
A | G | 60 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(57): Show | 63 | HG00609.hp1 HG00621.hp1 HG00639.hp1 others(60): Show |
intron_variant | MODIFIER | c.1861+516A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 5/40 | chr3 | 130385880 | ||||||
| chr3:130386161
|
A | G | 1 | a0001c0014t0002g0255 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.1861+797A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 5/40 | chr3 | 130386161 | ||||||
| chr3:130386380
|
C | T | 210 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(207): Show | 218 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(215): Show |
intron_variant | MODIFIER | c.1861+1016C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 5/40 | chr3 | 130386380 | ||||||
| chr3:130386484
|
A | C | 1 | a0052c0101t0003g0061 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1861+1120A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 5/40 | chr3 | 130386484 | ||||||
| chr3:130386716
|
G | A | 2 | a0001c0001t0001g0106a0001c0001t0002g0225 | 2 | HG01074.hp2 HG03669.hp2 |
intron_variant | MODIFIER | c.1861+1352G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 5/40 | chr3 | 130386716 | ||||||
| chr3:130386877
|
G | A | 2 | a0042c0103t0002g0091a0043c0104t0002g0092 | 2 | HG06807.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.1861+1513G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 5/40 | chr3 | 130386877 | ||||||
| chr3:130387054
|
C | A | 7 | a0038c0043t0001g0183a0038c0043t0003g0079a0040c0042t0011g0074others(4): Show | 7 | HG02622.hp2 HG02809.hp1 HG02895.hp2 others(4): Show |
intron_variant | MODIFIER | c.1862-1526C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 5/40 | chr3 | 130387054 | ||||||
| chr3:130387061
|
A | G | 2 | a0004c0003t0001g0027a0004c0003t0001g0028 | 2 | NA18990.hp1 NA19083.hp2 |
intron_variant | MODIFIER | c.1862-1519A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 5/40 | chr3 | 130387061 | ||||||
| chr3:130387132
|
A | G | 78 | a0003c0004t0001g0018a0003c0004t0001g0019a0003c0004t0001g0020others(75): Show | 79 | HG00408.hp2 HG00544.hp1 HG00597.hp2 others(76): Show |
intron_variant | MODIFIER | c.1862-1448A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 5/40 | chr3 | 130387132 | ||||||
| chr3:130387141
|
A | G | 2 | a0078c0062t0003g0216a0079c0063t0003g0215 | 2 | HG01109.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.1862-1439A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 5/40 | chr3 | 130387141 | ||||||
| chr3:130387337
|
G | A | 138 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(135): Show | 141 | HG00140.hp2 HG00408.hp2 HG00544.hp1 others(138): Show |
intron_variant | MODIFIER | c.1862-1243G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 5/40 | chr3 | 130387337 | ||||||
| chr3:130387391
|
A | C | 1 | a0052c0101t0003g0061 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1862-1189A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 5/40 | chr3 | 130387391 | ||||||
| chr3:130387542
|
A | G | 1 | a0047c0084t0002g0271 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1862-1038A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 5/40 | chr3 | 130387542 | ||||||
| chr3:130387551
|
T | C | 140 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(137): Show | 143 | HG00140.hp2 HG00408.hp2 HG00544.hp1 others(140): Show |
intron_variant | MODIFIER | c.1862-1029T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 5/40 | chr3 | 130387551 | ||||||
| chr3:130387570
|
A | G | 1 | a0090c0052t0003g0011 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.1862-1010A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 5/40 | chr3 | 130387570 | ||||||
| chr3:130387711
|
G | A | 6 | a0013c0016t0001g0144a0013c0016t0010g0013a0013c0016t0010g0014others(3): Show | 6 | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(3): Show |
intron_variant | MODIFIER | c.1862-869G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 5/40 | chr3 | 130387711 | ||||||
| chr3:130387799
|
A | C | 1 | a0013c0016t0010g0015 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.1862-781A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 5/40 | chr3 | 130387799 | ||||||
| chr3:130387912
|
A | G | 1 | a0013c0075t0016g0012 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.1862-668A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 5/40 | chr3 | 130387912 | ||||||
| chr3:130387934
|
A | G | 138 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(135): Show | 141 | HG00140.hp2 HG00408.hp2 HG00544.hp1 others(138): Show |
intron_variant | MODIFIER | c.1862-646A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 5/40 | chr3 | 130387934 | ||||||
| chr3:130388066
|
T | G | 138 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(135): Show | 141 | HG00140.hp2 HG00408.hp2 HG00544.hp1 others(138): Show |
intron_variant | MODIFIER | c.1862-514T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 5/40 | chr3 | 130388066 | ||||||
| chr3:130388093
|
A | G | 1 | a0026c0038t0002g0263 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.1862-487A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 5/40 | chr3 | 130388093 | ||||||
| chr3:130388168
|
C | T | 7 | a0007c0064t0006g0038a0016c0020t0001g0171a0016c0020t0001g0272others(4): Show | 7 | HG01891.hp2 HG02818.hp1 HG02976.hp1 others(4): Show |
intron_variant | MODIFIER | c.1862-412C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 5/40 | chr3 | 130388168 | ||||||
| chr3:130388343
|
T | TATGCATG others(1): Show |
93 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(90): Show | 96 | HG00140.hp2 HG00609.hp1 HG00621.hp1 others(93): Show |
intron_variant | MODIFIER | c.1862-221_1862-214d others(10): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 5/40 | INFO_REALIGN_3_PRIME | chr3 | 130388343 | |||||
| chr3:130389189
|
A | G | 1 | a0065c0060t0005g0042 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.2416+55A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 6/40 | chr3 | 130389189 | ||||||
| chr3:130389220
|
A | G | 141 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(138): Show | 145 | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(142): Show |
intron_variant | MODIFIER | c.2416+86A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 6/40 | chr3 | 130389220 | ||||||
| chr3:130389479
|
T | G | 4 | a0075c0067t0001g0159a0076c0068t0003g0052a0077c0065t0001g0161others(1): Show | 4 | HG02109.hp2 HG02630.hp1 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.2416+345T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 6/40 | chr3 | 130389479 | ||||||
| chr3:130389826
|
A | G | 143 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(140): Show | 147 | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(144): Show |
intron_variant | MODIFIER | c.2416+692A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 6/40 | chr3 | 130389826 | ||||||
| chr3:130389851
|
T | C | 1 | a0005c0006t0007g0007 | 2 | HG03490.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.2416+717T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 6/40 | chr3 | 130389851 | ||||||
| chr3:130389959
|
T | C | 9 | a0010c0007t0001g0105a0010c0007t0001g0136a0013c0016t0001g0144others(6): Show | 9 | HG00140.hp2 HG00621.hp1 HG01169.hp2 others(6): Show |
intron_variant | MODIFIER | c.2416+825T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 6/40 | chr3 | 130389959 | ||||||
| chr3:130390031
|
G | A | 62 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(59): Show | 66 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(63): Show |
intron_variant | MODIFIER | c.2416+897G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 6/40 | chr3 | 130390031 | ||||||
| chr3:130390096
|
A | G | 1 | a0001c0001t0002g0254 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.2416+962A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 6/40 | chr3 | 130390096 | ||||||
| chr3:130390383
|
C | T | 11 | a0007c0008t0003g0001a0007c0008t0003g0062a0007c0008t0003g0063others(8): Show | 12 | HG00733.hp1 HG01069.hp1 HG01175.hp2 others(9): Show |
intron_variant | MODIFIER | c.2417-796C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 6/40 | chr3 | 130390383 | ||||||
| chr3:130390457
|
T | C | 4 | a0037c0032t0001g0181a0037c0032t0005g0057a0071c0071t0001g0180others(1): Show | 4 | HG02280.hp2 HG02622.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.2417-722T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 6/40 | chr3 | 130390457 | ||||||
| chr3:130390484
|
A | G | 146 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(143): Show | 150 | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(147): Show |
intron_variant | MODIFIER | c.2417-695A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 6/40 | chr3 | 130390484 | ||||||
| chr3:130390651
|
A | G | 2 | a0001c0001t0001g0106a0001c0001t0002g0225 | 2 | HG01074.hp2 HG03669.hp2 |
intron_variant | MODIFIER | c.2417-528A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 6/40 | chr3 | 130390651 | ||||||
| chr3:130390712
|
T | G | 1 | a0070c0070t0003g0064 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.2417-467T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 6/40 | chr3 | 130390712 | ||||||
| chr3:130390747
|
A | G | 2 | a0001c0014t0002g0250a0001c0082t0002g0253 | 2 | NA19055.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.2417-432A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 6/40 | chr3 | 130390747 | ||||||
| chr3:130390825
|
G | T | 68 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(65): Show | 73 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(70): Show |
intron_variant | MODIFIER | c.2417-354G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 6/40 | chr3 | 130390825 | ||||||
| chr3:130390950
|
A | G | 1 | a0012c0011t0002g0202 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.2417-229A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 6/40 | chr3 | 130390950 | ||||||
| chr3:130390998
|
C | T | 1 | a0047c0084t0002g0271 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.2417-181C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 6/40 | chr3 | 130390998 | ||||||
| chr3:130391071
|
T | C | 7 | a0013c0016t0001g0144a0013c0016t0010g0013a0013c0016t0010g0014others(4): Show | 7 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(4): Show |
intron_variant | MODIFIER | c.2417-108T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 6/40 | chr3 | 130391071 | ||||||
| chr3:130391072
|
C | CA | 7 | a0013c0016t0001g0144a0013c0016t0010g0013a0013c0016t0010g0014others(4): Show | 7 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(4): Show |
intron_variant | MODIFIER | c.2417-107_2417-106i others(3): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 6/40 | chr3 | 130391072 | ||||||
| chr3:130391074
|
GACACAT | G | 7 | a0013c0016t0001g0144a0013c0016t0010g0013a0013c0016t0010g0014others(4): Show | 7 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(4): Show |
intron_variant | MODIFIER | c.2417-103_2417-98de others(7): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 6/40 | INFO_REALIGN_3_PRIME | chr3 | 130391074 | |||||
| chr3:130391083
|
T | C | 1 | a0037c0032t0005g0057 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.2417-96T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 6/40 | chr3 | 130391083 | ||||||
| chr3:130391106
|
C | T | 62 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(59): Show | 64 | HG00609.hp1 HG00621.hp1 HG00621.hp2 others(61): Show |
intron_variant | MODIFIER | c.2417-73C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 6/40 | chr3 | 130391106 | ||||||
| chr3:130391150
|
T | C | 37 | a0007c0008t0003g0001a0007c0008t0003g0062a0007c0008t0003g0063others(34): Show | 39 | HG00438.hp1 HG00733.hp1 HG01069.hp1 others(36): Show |
intron_variant | MODIFIER | c.2417-29T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 6/40 | chr3 | 130391150 | ||||||
| chr3:130391844
|
G | A | 1 | a0059c0073t0003g0040 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.2992+90G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 7/40 | chr3 | 130391844 | ||||||
| chr3:130391989
|
C | T | 1 | a0041c0033t0008g0173 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.2992+235C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 7/40 | chr3 | 130391989 | ||||||
| chr3:130392061
|
C | G | 2 | a0082c0045t0001g0118a0086c0050t0001g0132 | 2 | NA18954.hp1 NA19060.hp2 |
intron_variant | MODIFIER | c.2992+307C>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 7/40 | chr3 | 130392061 | ||||||
| chr3:130392064
|
A | G | 1 | a0007c0064t0006g0038 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2992+310A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 7/40 | chr3 | 130392064 | ||||||
| chr3:130392084
|
C | T | 3 | a0001c0001t0002g0224a0001c0001t0002g0266a0034c0027t0001g0006 | 4 | HG00280.hp2 HG01256.hp2 HG01258.hp1 others(1): Show |
intron_variant | MODIFIER | c.2992+330C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 7/40 | chr3 | 130392084 | ||||||
| chr3:130392200
|
C | A | 3 | a0028c0036t0003g0075a0028c0036t0003g0077a0029c0087t0006g0076 | 3 | HG01123.hp1 HG02970.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.2992+446C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 7/40 | chr3 | 130392200 | ||||||
| chr3:130392261
|
C | G | 1 | a0078c0062t0003g0216 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.2992+507C>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 7/40 | chr3 | 130392261 | ||||||
| chr3:130392425
|
T | G | 1 | a0061c0053t0001g0175 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2992+671T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 7/40 | chr3 | 130392425 | ||||||
| chr3:130392517
|
G | T | 4 | a0038c0043t0001g0183a0038c0043t0003g0079a0073c0066t0006g0060others(1): Show | 4 | HG01109.hp1 HG02922.hp1 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.2992+763G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 7/40 | chr3 | 130392517 | ||||||
| chr3:130392612
|
C | A | 133 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(130): Show | 136 | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(133): Show |
intron_variant | MODIFIER | c.2992+858C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 7/40 | chr3 | 130392612 | ||||||
| chr3:130392764
|
G | A | 6 | a0019c0017t0001g0153a0019c0017t0003g0277a0019c0017t0003g0278others(3): Show | 7 | HG00639.hp1 HG00738.hp2 HG01167.hp1 others(4): Show |
intron_variant | MODIFIER | c.2992+1010G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 7/40 | chr3 | 130392764 | ||||||
| chr3:130392843
|
C | G | 144 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(141): Show | 148 | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(145): Show |
intron_variant | MODIFIER | c.2992+1089C>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 7/40 | chr3 | 130392843 | ||||||
| chr3:130393067
|
G | GT | 10 | a0001c0001t0002g0260a0001c0014t0002g0264a0004c0003t0001g0028others(7): Show | 11 | HG00639.hp1 HG00738.hp2 HG01167.hp1 others(8): Show |
intron_variant | MODIFIER | c.2992+1323dupT | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 7/40 | INFO_REALIGN_3_PRIME | chr3 | 130393067 | |||||
| chr3:130393067
|
GTTTT | G | 8 | a0010c0007t0001g0163a0013c0016t0001g0144a0013c0016t0010g0013others(5): Show | 8 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(5): Show |
intron_variant | MODIFIER | c.2992+1320_2992+132 others(8): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 7/40 | INFO_REALIGN_3_PRIME | chr3 | 130393067 | |||||
| chr3:130393067
|
GTTTTTT | G | 14 | a0010c0007t0001g0105a0010c0007t0001g0136a0010c0007t0001g0140others(11): Show | 14 | HG00621.hp1 HG01109.hp1 HG01109.hp2 others(11): Show |
intron_variant | MODIFIER | c.2992+1318_2992+132 others(10): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 7/40 | INFO_REALIGN_3_PRIME | chr3 | 130393067 | |||||
| chr3:130393070
|
TTTTTTTT others(1): Show |
T | 124 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(121): Show | 128 | HG00408.hp2 HG00438.hp1 HG00544.hp1 others(125): Show |
intron_variant | MODIFIER | c.2992+1318_2992+132 others(12): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 7/40 | INFO_REALIGN_3_PRIME | chr3 | 130393070 | |||||
| chr3:130393074
|
TTTTGTGT others(5): Show |
T | 2 | a0030c0035t0001g0217a0030c0035t0001g0218 | 2 | HG03041.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2992+1322_2992+133 others(16): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 7/40 | INFO_REALIGN_3_PRIME | chr3 | 130393074 | |||||
| chr3:130393076
|
T | G | 29 | a0004c0003t0003g0087a0005c0006t0004g0044a0005c0006t0004g0047others(26): Show | 29 | HG00140.hp2 HG01169.hp2 HG01243.hp1 others(26): Show |
intron_variant | MODIFIER | c.2992+1322T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 7/40 | chr3 | 130393076 | ||||||
| chr3:130393078
|
G | T | 83 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(80): Show | 88 | HG00280.hp2 HG00408.hp1 HG00438.hp2 others(85): Show |
intron_variant | MODIFIER | c.2992+1324G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 7/40 | chr3 | 130393078 | ||||||
| chr3:130393080
|
G | T | 59 | a0001c0001t0001g0186a0001c0001t0002g0010a0001c0001t0002g0189others(56): Show | 63 | HG00408.hp1 HG00639.hp1 HG00639.hp2 others(60): Show |
intron_variant | MODIFIER | c.2992+1326G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 7/40 | chr3 | 130393080 | ||||||
| chr3:130393082
|
G | T | 6 | a0001c0014t0002g0201a0019c0017t0001g0153a0019c0017t0003g0277others(3): Show | 7 | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(4): Show |
intron_variant | MODIFIER | c.2992+1328G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 7/40 | chr3 | 130393082 | ||||||
| chr3:130393100
|
G | T | 4 | a0007c0008t0003g0062a0007c0008t0003g0063a0038c0043t0003g0079others(1): Show | 4 | HG01257.hp1 HG01258.hp2 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.2992+1346G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 7/40 | chr3 | 130393100 | ||||||
| chr3:130393102
|
G | T | 137 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(134): Show | 141 | HG00408.hp2 HG00438.hp1 HG00544.hp1 others(138): Show |
intron_variant | MODIFIER | c.2992+1348G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 7/40 | chr3 | 130393102 | ||||||
| chr3:130393178
|
G | A | 1 | a0056c0095t0007g0196 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.2992+1424G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 7/40 | chr3 | 130393178 | ||||||
| chr3:130393365
|
C | T | 5 | a0075c0067t0001g0159a0076c0068t0003g0052a0077c0065t0001g0161others(2): Show | 5 | HG02109.hp2 HG02630.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.2993-1525C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 7/40 | chr3 | 130393365 | ||||||
| chr3:130393454
|
T | C | 41 | a0003c0004t0001g0018a0003c0004t0001g0019a0003c0004t0001g0020others(38): Show | 41 | HG00408.hp2 HG00544.hp1 HG00597.hp2 others(38): Show |
intron_variant | MODIFIER | c.2993-1436T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 7/40 | chr3 | 130393454 | ||||||
| chr3:130393508
|
C | T | 1 | a0026c0038t0002g0263 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.2993-1382C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 7/40 | chr3 | 130393508 | ||||||
| chr3:130393757
|
G | A | 2 | a0030c0035t0001g0217a0030c0035t0001g0218 | 2 | HG03041.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2993-1133G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 7/40 | chr3 | 130393757 | ||||||
| chr3:130393971
|
C | T | 8 | a0007c0064t0006g0038a0016c0020t0001g0171a0016c0020t0001g0272others(5): Show | 8 | HG01891.hp2 HG02717.hp2 HG02818.hp1 others(5): Show |
intron_variant | MODIFIER | c.2993-919C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 7/40 | chr3 | 130393971 | ||||||
| chr3:130393979
|
C | A | 6 | a0020c0023t0005g0058a0020c0023t0012g0029a0020c0023t0012g0030others(3): Show | 6 | HG01243.hp1 HG01981.hp2 HG02647.hp2 others(3): Show |
intron_variant | MODIFIER | c.2993-911C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 7/40 | chr3 | 130393979 | ||||||
| chr3:130394004
|
C | T | 1 | a0035c0028t0001g0104 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.2993-886C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 7/40 | chr3 | 130394004 | ||||||
| chr3:130394008
|
C | CAGA | 146 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(143): Show | 150 | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(147): Show |
intron_variant | MODIFIER | c.2993-881_2993-880i others(5): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 7/40 | INFO_REALIGN_3_PRIME | chr3 | 130394008 | |||||
| chr3:130394105
|
T | C | 30 | a0007c0008t0003g0001a0007c0008t0003g0062a0007c0008t0003g0063others(27): Show | 32 | HG00438.hp1 HG00733.hp1 HG01069.hp1 others(29): Show |
intron_variant | MODIFIER | c.2993-785T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 7/40 | chr3 | 130394105 | ||||||
| chr3:130394117
|
G | T | 1 | a0001c0001t0001g0186 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.2993-773G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 7/40 | chr3 | 130394117 | ||||||
| chr3:130394287
|
A | G | 2 | a0033c0029t0001g0117a0033c0029t0001g0120 | 2 | HG02258.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.2993-603A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 7/40 | chr3 | 130394287 | ||||||
| chr3:130394424
|
G | A | 1 | a0044c0105t0006g0214 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.2993-466G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 7/40 | chr3 | 130394424 | ||||||
| chr3:130394451
|
A | G | 1 | a0044c0105t0006g0214 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.2993-439A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 7/40 | chr3 | 130394451 | ||||||
| chr3:130394526
|
A | T | 2 | a0001c0001t0002g0258a0001c0001t0002g0259 | 2 | HG00642.hp1 HG01192.hp2 |
intron_variant | MODIFIER | c.2993-364A>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 7/40 | chr3 | 130394526 | ||||||
| chr3:130394683
|
T | G | 2 | a0002c0002t0001g0004a0002c0002t0001g0121 | 3 | NA18975.hp2 NA19065.hp2 NA19070.hp2 |
intron_variant | MODIFIER | c.2993-207T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 7/40 | chr3 | 130394683 | ||||||
| chr3:130394713
|
C | T | 19 | a0009c0009t0002g0094a0009c0009t0002g0095a0009c0009t0002g0096others(16): Show | 20 | HG00438.hp1 HG01106.hp1 HG01109.hp2 others(17): Show |
intron_variant | MODIFIER | c.2993-177C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 7/40 | chr3 | 130394713 | ||||||
| chr3:130394792
|
T | G | 146 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(143): Show | 150 | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(147): Show |
intron_variant | MODIFIER | c.2993-98T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 7/40 | chr3 | 130394792 | ||||||
| chr3:130394846
|
G | T | 2 | a0033c0029t0001g0117a0033c0029t0001g0120 | 2 | HG02258.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.2993-44G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 7/40 | chr3 | 130394846 | ||||||
| chr3:130394874
|
C | A | 26 | a0007c0064t0006g0038a0009c0009t0002g0094a0009c0009t0002g0095others(23): Show | 27 | HG00438.hp1 HG01106.hp1 HG01109.hp2 others(24): Show |
intron_variant | MODIFIER | c.2993-16C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 7/40 | chr3 | 130394874 | ||||||
| chr3:130395523
|
A | G | 1 | a0007c0064t0006g0038 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.3568+58A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 8/40 | chr3 | 130395523 | ||||||
| chr3:130395542
|
C | T | 1 | a0005c0006t0004g0044 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.3568+77C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 8/40 | chr3 | 130395542 | ||||||
| chr3:130395764
|
T | G | 1 | a0008c0010t0001g0169 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.3568+299T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 8/40 | chr3 | 130395764 | ||||||
| chr3:130395765
|
C | A | 1 | a0008c0010t0001g0169 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.3568+300C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 8/40 | chr3 | 130395765 | ||||||
| chr3:130395884
|
C | A | 2 | a0002c0002t0001g0004a0002c0002t0001g0121 | 3 | NA18975.hp2 NA19065.hp2 NA19070.hp2 |
intron_variant | MODIFIER | c.3568+419C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 8/40 | chr3 | 130395884 | ||||||
| chr3:130395886
|
CGT | C | 128 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(125): Show | 131 | HG00408.hp2 HG00438.hp1 HG00544.hp1 others(128): Show |
intron_variant | MODIFIER | c.3568+440_3568+441d others(4): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 8/40 | INFO_REALIGN_3_PRIME | chr3 | 130395886 | |||||
| chr3:130395889
|
G | A | 2 | a0022c0024t0002g0003a0022c0024t0002g0102 | 3 | HG02080.hp2 NA18982.hp2 NA19002.hp2 |
intron_variant | MODIFIER | c.3568+424G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 8/40 | chr3 | 130395889 | ||||||
| chr3:130396064
|
G | C | 135 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(132): Show | 138 | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(135): Show |
intron_variant | MODIFIER | c.3568+599G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 8/40 | chr3 | 130396064 | ||||||
| chr3:130396102
|
G | T | 61 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(58): Show | 63 | HG00609.hp1 HG00621.hp1 HG00735.hp2 others(60): Show |
intron_variant | MODIFIER | c.3568+637G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 8/40 | chr3 | 130396102 | ||||||
| chr3:130396183
|
G | A | 1 | a0009c0009t0002g0281 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.3568+718G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 8/40 | chr3 | 130396183 | ||||||
| chr3:130396508
|
A | G | 136 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(133): Show | 139 | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(136): Show |
intron_variant | MODIFIER | c.3568+1043A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 8/40 | chr3 | 130396508 | ||||||
| chr3:130396749
|
C | T | 3 | a0033c0029t0001g0117a0033c0029t0001g0120a0045c0077t0001g0176 | 3 | HG02258.hp2 HG02572.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.3569-834C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 8/40 | chr3 | 130396749 | ||||||
| chr3:130396894
|
G | T | 2 | a0001c0001t0002g0258a0001c0001t0002g0259 | 2 | HG00642.hp1 HG01192.hp2 |
intron_variant | MODIFIER | c.3569-689G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 8/40 | chr3 | 130396894 | ||||||
| chr3:130397069
|
G | A | 2 | a0008c0010t0001g0119a0019c0017t0003g0279 | 2 | HG02896.hp2 NA19091.hp2 |
intron_variant | MODIFIER | c.3569-514G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 8/40 | chr3 | 130397069 | ||||||
| chr3:130397089
|
G | A | 4 | a0020c0023t0005g0058a0020c0023t0012g0029a0020c0023t0012g0030others(1): Show | 4 | HG01981.hp2 HG03225.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.3569-494G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 8/40 | chr3 | 130397089 | ||||||
| chr3:130397108
|
C | A | 75 | a0003c0004t0001g0018a0003c0004t0001g0019a0003c0004t0001g0020others(72): Show | 76 | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(73): Show |
intron_variant | MODIFIER | c.3569-475C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 8/40 | chr3 | 130397108 | ||||||
| chr3:130397224
|
C | T | 42 | a0003c0004t0001g0018a0003c0004t0001g0019a0003c0004t0001g0020others(39): Show | 42 | HG00408.hp2 HG00544.hp1 HG00597.hp2 others(39): Show |
intron_variant | MODIFIER | c.3569-359C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 8/40 | chr3 | 130397224 | ||||||
| chr3:130397399
|
G | T | 2 | a0025c0041t0001g0177a0025c0041t0001g0178 | 2 | HG02818.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.3569-184G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 8/40 | chr3 | 130397399 | ||||||
| chr3:130397428
|
A | G | 4 | a0013c0016t0010g0013a0013c0016t0010g0014a0013c0016t0010g0015others(1): Show | 4 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(1): Show |
intron_variant | MODIFIER | c.3569-155A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 8/40 | chr3 | 130397428 | ||||||
| chr3:130397430
|
A | G | 1 | a0013c0016t0001g0144 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.3569-153A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 8/40 | chr3 | 130397430 | ||||||
| chr3:130397523
|
G | T | 1 | a0061c0053t0001g0175 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.3569-60G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 8/40 | chr3 | 130397523 | ||||||
| chr3:130398009
|
AC | A | 4 | a0037c0032t0001g0181a0037c0032t0005g0057a0071c0071t0001g0180others(1): Show | 4 | HG02280.hp2 HG02622.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.3910-19delC | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 9/40 | INFO_REALIGN_3_PRIME | chr3 | 130398009 | |||||
| chr3:130398125
|
G | GT | 45 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(42): Show | 47 | HG00609.hp1 HG00621.hp1 HG00621.hp2 others(44): Show |
intron_variant | MODIFIER | c.3991+16dupT | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 10/40 | INFO_REALIGN_3_PRIME | chr3 | 130398125 | |||||
| chr3:130398125
|
G | GTT | 19 | a0002c0002t0001g0123a0010c0007t0001g0163a0010c0007t0001g0167others(16): Show | 19 | HG00140.hp2 HG00735.hp2 HG01169.hp2 others(16): Show |
intron_variant | MODIFIER | c.3991+15_3991+16dup others(2): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 10/40 | INFO_REALIGN_3_PRIME | chr3 | 130398125 | |||||
| chr3:130398128
|
G | GT | 6 | a0001c0001t0002g0254a0001c0001t0003g0086a0004c0003t0001g0028others(3): Show | 6 | HG01175.hp1 HG02258.hp2 HG02615.hp2 others(3): Show |
intron_variant | MODIFIER | c.3991+37dupT | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 10/40 | INFO_REALIGN_3_PRIME | chr3 | 130398128 | |||||
| chr3:130398128
|
G | T | 68 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(65): Show | 70 | HG00140.hp2 HG00609.hp1 HG00621.hp1 others(67): Show |
intron_variant | MODIFIER | c.3991+17G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 10/40 | chr3 | 130398128 | ||||||
| chr3:130398128
|
GT | G | 71 | a0001c0001t0002g0223a0003c0004t0001g0018a0003c0004t0001g0019others(68): Show | 73 | HG00408.hp2 HG00438.hp1 HG00544.hp1 others(70): Show |
intron_variant | MODIFIER | c.3991+37delT | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 10/40 | INFO_REALIGN_3_PRIME | chr3 | 130398128 | |||||
| chr3:130398131
|
T | G | 2 | a0018c0018t0001g0158a0047c0084t0002g0271 | 2 | HG02257.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.3991+20T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 10/40 | chr3 | 130398131 | ||||||
| chr3:130398224
|
G | A | 1 | a0048c0099t0002g0229 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.3991+113G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 10/40 | chr3 | 130398224 | ||||||
| chr3:130398280
|
A | G | 219 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(216): Show | 228 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(225): Show |
intron_variant | MODIFIER | c.3991+169A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 10/40 | chr3 | 130398280 | ||||||
| chr3:130398393
|
G | A | 1 | a0003c0025t0001g0124 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.3991+282G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 10/40 | chr3 | 130398393 | ||||||
| chr3:130398409
|
C | T | 2 | a0042c0103t0002g0091a0043c0104t0002g0092 | 2 | HG06807.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.3991+298C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 10/40 | chr3 | 130398409 | ||||||
| chr3:130398421
|
C | T | 1 | a0004c0003t0001g0026 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.3991+310C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 10/40 | chr3 | 130398421 | ||||||
| chr3:130398429
|
C | T | 1 | a0081c0080t0011g0059 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.3991+318C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 10/40 | chr3 | 130398429 | ||||||
| chr3:130398461
|
T | A | 1 | a0008c0010t0001g0169 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.3991+350T>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 10/40 | chr3 | 130398461 | ||||||
| chr3:130398558
|
G | A | 6 | a0016c0020t0001g0171a0016c0020t0001g0272a0016c0020t0001g0273others(3): Show | 6 | HG01891.hp2 HG02818.hp1 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.3991+447G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 10/40 | chr3 | 130398558 | ||||||
| chr3:130398566
|
G | T | 2 | a0001c0001t0002g0258a0001c0001t0002g0259 | 2 | HG00642.hp1 HG01192.hp2 |
intron_variant | MODIFIER | c.3991+455G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 10/40 | chr3 | 130398566 | ||||||
| chr3:130398577
|
C | T | 2 | a0001c0001t0002g0258a0001c0001t0002g0259 | 2 | HG00642.hp1 HG01192.hp2 |
intron_variant | MODIFIER | c.3991+466C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 10/40 | chr3 | 130398577 | ||||||
| chr3:130398950
|
G | A | 1 | a0091c0078t0002g0276 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.3991+839G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 10/40 | chr3 | 130398950 | ||||||
| chr3:130399061
|
G | A | 1 | a0008c0026t0009g0164 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.3991+950G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 10/40 | chr3 | 130399061 | ||||||
| chr3:130399109
|
C | T | 4 | a0037c0032t0001g0181a0037c0032t0005g0057a0071c0071t0001g0180others(1): Show | 4 | HG02280.hp2 HG02622.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.3991+998C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 10/40 | chr3 | 130399109 | ||||||
| chr3:130399209
|
A | G | 3 | a0041c0033t0008g0173a0041c0033t0008g0174a0087c0076t0001g0274 | 3 | HG01346.hp1 HG02976.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.3991+1098A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 10/40 | chr3 | 130399209 | ||||||
| chr3:130399370
|
C | CT | 63 | a0001c0001t0002g0235a0003c0004t0001g0018a0003c0004t0001g0019others(60): Show | 63 | HG00140.hp2 HG00408.hp2 HG00544.hp1 others(60): Show |
intron_variant | MODIFIER | c.3991+1277dupT | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 10/40 | INFO_REALIGN_3_PRIME | chr3 | 130399370 | |||||
| chr3:130399370
|
C | CTT | 6 | a0016c0020t0001g0171a0016c0020t0001g0273a0040c0042t0011g0074others(3): Show | 6 | HG02622.hp2 HG02809.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.3991+1276_3991+127 others(6): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 10/40 | INFO_REALIGN_3_PRIME | chr3 | 130399370 | |||||
| chr3:130399372
|
T | TTC | 14 | a0009c0009t0002g0094a0009c0009t0002g0095a0009c0009t0002g0096others(11): Show | 15 | HG00438.hp1 HG01106.hp1 HG01109.hp2 others(12): Show |
intron_variant | MODIFIER | c.3991+1262_3991+126 others(6): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 10/40 | INFO_REALIGN_3_PRIME | chr3 | 130399372 | |||||
| chr3:130399373
|
T | TC | 56 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(53): Show | 58 | HG00609.hp1 HG00621.hp1 HG00621.hp2 others(55): Show |
intron_variant | MODIFIER | c.3991+1262_3991+126 others(5): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 10/40 | chr3 | 130399373 | ||||||
| chr3:130399396
|
A | T | 26 | a0007c0064t0006g0038a0009c0009t0002g0094a0009c0009t0002g0095others(23): Show | 27 | HG00438.hp1 HG01106.hp1 HG01109.hp2 others(24): Show |
intron_variant | MODIFIER | c.3991+1285A>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 10/40 | chr3 | 130399396 | ||||||
| chr3:130399434
|
G | A | 1 | a0001c0001t0002g0260 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.3991+1323G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 10/40 | chr3 | 130399434 | ||||||
| chr3:130399614
|
G | A | 1 | a0044c0105t0006g0214 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.3992-1417G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 10/40 | chr3 | 130399614 | ||||||
| chr3:130399652
|
C | T | 136 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(133): Show | 139 | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(136): Show |
intron_variant | MODIFIER | c.3992-1379C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 10/40 | chr3 | 130399652 | ||||||
| chr3:130399681
|
T | A | 2 | a0033c0029t0001g0117a0033c0029t0001g0120 | 2 | HG02258.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.3992-1350T>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 10/40 | chr3 | 130399681 | ||||||
| chr3:130399746
|
GAT | G | 253 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(250): Show | 262 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(259): Show |
intron_variant | MODIFIER | c.3992-1269_3992-126 others(6): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 10/40 | INFO_REALIGN_3_PRIME | chr3 | 130399746 | |||||
| chr3:130399822
|
A | T | 10 | a0004c0003t0003g0087a0011c0012t0003g0083a0011c0012t0003g0084others(7): Show | 10 | HG02572.hp2 HG02717.hp2 HG02809.hp2 others(7): Show |
intron_variant | MODIFIER | c.3992-1209A>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 10/40 | chr3 | 130399822 | ||||||
| chr3:130399827
|
G | A | 10 | a0004c0003t0003g0087a0011c0012t0003g0083a0011c0012t0003g0084others(7): Show | 10 | HG02572.hp2 HG02717.hp2 HG02809.hp2 others(7): Show |
intron_variant | MODIFIER | c.3992-1204G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 10/40 | chr3 | 130399827 | ||||||
| chr3:130399877
|
C | T | 5 | a0001c0001t0002g0010a0001c0001t0002g0223a0001c0001t0002g0233others(2): Show | 6 | HG01070.hp1 HG01071.hp2 HG01167.hp2 others(3): Show |
intron_variant | MODIFIER | c.3992-1154C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 10/40 | chr3 | 130399877 | ||||||
| chr3:130399880
|
G | A | 69 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(66): Show | 74 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(71): Show |
intron_variant | MODIFIER | c.3992-1151G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 10/40 | chr3 | 130399880 | ||||||
| chr3:130400015
|
G | A | 4 | a0038c0043t0001g0183a0038c0043t0003g0079a0073c0066t0006g0060others(1): Show | 4 | HG01109.hp1 HG02922.hp1 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.3992-1016G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 10/40 | chr3 | 130400015 | ||||||
| chr3:130400350
|
G | A | 1 | a0001c0001t0002g0191 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.3992-681G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 10/40 | chr3 | 130400350 | ||||||
| chr3:130400452
|
A | C | 8 | a0013c0016t0001g0144a0013c0016t0010g0013a0013c0016t0010g0014others(5): Show | 8 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(5): Show |
intron_variant | MODIFIER | c.3992-579A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 10/40 | chr3 | 130400452 | ||||||
| chr3:130400548
|
TG | T | 10 | a0004c0003t0003g0087a0011c0012t0003g0083a0011c0012t0003g0084others(7): Show | 10 | HG02572.hp2 HG02717.hp2 HG02809.hp2 others(7): Show |
intron_variant | MODIFIER | c.3992-482delG | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 10/40 | chr3 | 130400548 | ||||||
| chr3:130400601
|
A | T | 1 | a0047c0084t0002g0271 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.3992-430A>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 10/40 | chr3 | 130400601 | ||||||
| chr3:130400820
|
C | T | 135 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(132): Show | 138 | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(135): Show |
intron_variant | MODIFIER | c.3992-211C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 10/40 | chr3 | 130400820 | ||||||
| chr3:130400922
|
T | C | 2 | a0001c0001t0002g0258a0001c0001t0002g0259 | 2 | HG00642.hp1 HG01192.hp2 |
intron_variant | MODIFIER | c.3992-109T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 10/40 | chr3 | 130400922 | ||||||
| chr3:130401024
|
C | T | 1 | a0019c0017t0003g0279 | 1 | HG02896.hp2 | splice_region_variant&intron_variant | LOW | c.3992-7C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 10/40 | chr3 | 130401024 | ||||||
| chr3:130401183
|
T | G | 1 | a0001c0001t0002g0198 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.4134+10T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 11/40 | chr3 | 130401183 | ||||||
| chr3:130401362
|
A | G | 1 | a0082c0045t0001g0118 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.4134+189A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 11/40 | chr3 | 130401362 | ||||||
| chr3:130401476
|
G | C | 1 | a0013c0075t0016g0012 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.4135-286G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 11/40 | chr3 | 130401476 | ||||||
| chr3:130401613
|
C | T | 3 | a0001c0001t0002g0189a0001c0001t0002g0190a0001c0001t0002g0191 | 3 | HG00639.hp2 HG02698.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.4135-149C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 11/40 | chr3 | 130401613 | ||||||
| chr3:130401665
|
C | T | 67 | a0003c0004t0001g0018a0003c0004t0001g0019a0003c0004t0001g0020others(64): Show | 68 | HG00408.hp2 HG00438.hp1 HG00544.hp1 others(65): Show |
intron_variant | MODIFIER | c.4135-97C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 11/40 | chr3 | 130401665 | ||||||
| chr3:130401750
|
T | C | 1 | a0001c0001t0002g0251 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.4135-12T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 11/40 | chr3 | 130401750 | ||||||
| chr3:130402026
|
A | C | 1 | a0011c0012t0003g0085 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.4227+172A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 12/40 | chr3 | 130402026 | ||||||
| chr3:130402092
|
A | G | 5 | a0001c0001t0001g0186a0001c0001t0002g0247a0017c0019t0002g0009others(2): Show | 6 | HG00408.hp1 NA18975.hp1 NA19001.hp1 others(3): Show |
intron_variant | MODIFIER | c.4227+238A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 12/40 | chr3 | 130402092 | ||||||
| chr3:130402098
|
A | T | 2 | a0003c0004t0001g0018a0003c0004t0001g0019 | 2 | HG01975.hp1 HG01993.hp2 |
intron_variant | MODIFIER | c.4227+244A>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 12/40 | chr3 | 130402098 | ||||||
| chr3:130402103
|
T | C | 61 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(58): Show | 63 | HG00609.hp1 HG00621.hp1 HG00621.hp2 others(60): Show |
intron_variant | MODIFIER | c.4227+249T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 12/40 | chr3 | 130402103 | ||||||
| chr3:130402106
|
A | G | 1 | a0090c0052t0003g0011 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.4227+252A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 12/40 | chr3 | 130402106 | ||||||
| chr3:130402428
|
A | G | 1 | a0012c0011t0002g0202 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.4227+574A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 12/40 | chr3 | 130402428 | ||||||
| chr3:130402642
|
G | A | 2 | a0001c0014t0002g0238a0001c0014t0002g0264 | 2 | NA18954.hp2 NA18972.hp2 |
intron_variant | MODIFIER | c.4227+788G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 12/40 | chr3 | 130402642 | ||||||
| chr3:130402665
|
T | C | 42 | a0003c0004t0001g0018a0003c0004t0001g0019a0003c0004t0001g0020others(39): Show | 42 | HG00408.hp2 HG00544.hp1 HG00597.hp2 others(39): Show |
intron_variant | MODIFIER | c.4227+811T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 12/40 | chr3 | 130402665 | ||||||
| chr3:130402783
|
A | C | 145 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(142): Show | 149 | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(146): Show |
intron_variant | MODIFIER | c.4228-826A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 12/40 | chr3 | 130402783 | ||||||
| chr3:130402903
|
A | T | 1 | a0026c0038t0002g0263 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.4228-706A>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 12/40 | chr3 | 130402903 | ||||||
| chr3:130403158
|
A | T | 4 | a0038c0043t0001g0183a0038c0043t0003g0079a0073c0066t0006g0060others(1): Show | 4 | HG01109.hp1 HG02922.hp1 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.4228-451A>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 12/40 | chr3 | 130403158 | ||||||
| chr3:130403281
|
G | A | 94 | a0003c0004t0001g0018a0003c0004t0001g0019a0003c0004t0001g0020others(91): Show | 95 | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(92): Show |
intron_variant | MODIFIER | c.4228-328G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 12/40 | chr3 | 130403281 | ||||||
| chr3:130403383
|
C | T | 1 | a0083c0046t0007g0033 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.4228-226C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 12/40 | chr3 | 130403383 | ||||||
| chr3:130403565
|
TG | T | 205 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(202): Show | 213 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(210): Show |
intron_variant | MODIFIER | c.4228-35delG | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 12/40 | INFO_REALIGN_3_PRIME | chr3 | 130403565 | |||||
| chr3:130403567
|
G | C | 1 | a0007c0064t0006g0038 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.4228-42G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 12/40 | chr3 | 130403567 | ||||||
| chr3:130403708
|
T | TAC | 25 | a0003c0004t0001g0018a0003c0004t0001g0019a0003c0004t0001g0093others(22): Show | 25 | HG00544.hp1 HG00597.hp2 HG00621.hp2 others(22): Show |
intron_variant | MODIFIER | c.4281+66_4281+67dup others(2): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 13/40 | INFO_REALIGN_3_PRIME | chr3 | 130403708 | |||||
| chr3:130403708
|
TAC | T | 6 | a0016c0020t0001g0171a0016c0020t0001g0272a0016c0020t0001g0273others(3): Show | 6 | HG01891.hp2 HG02258.hp2 HG02615.hp2 others(3): Show |
intron_variant | MODIFIER | c.4281+66_4281+67del others(2): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 13/40 | INFO_REALIGN_3_PRIME | chr3 | 130403708 | |||||
| chr3:130403708
|
TACACAC | T | 54 | a0004c0003t0001g0022a0004c0003t0001g0026a0004c0003t0001g0027others(51): Show | 55 | HG00280.hp1 HG00438.hp2 HG00544.hp2 others(52): Show |
intron_variant | MODIFIER | c.4281+62_4281+67del others(6): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 13/40 | INFO_REALIGN_3_PRIME | chr3 | 130403708 | |||||
| chr3:130403925
|
A | G | 2 | a0001c0001t0001g0106a0001c0001t0002g0225 | 2 | HG01074.hp2 HG03669.hp2 |
intron_variant | MODIFIER | c.4281+263A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 13/40 | chr3 | 130403925 | ||||||
| chr3:130404088
|
G | A | 2 | a0006c0005t0002g0008a0087c0076t0001g0274 | 3 | HG02965.hp2 HG02976.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.4281+426G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 13/40 | chr3 | 130404088 | ||||||
| chr3:130404097
|
C | T | 3 | a0040c0042t0011g0074a0040c0042t0011g0090a0058c0107t0003g0072 | 3 | HG02622.hp2 HG02809.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.4281+435C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 13/40 | chr3 | 130404097 | ||||||
| chr3:130404123
|
T | C | 71 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(68): Show | 75 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(72): Show |
intron_variant | MODIFIER | c.4281+461T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 13/40 | chr3 | 130404123 | ||||||
| chr3:130404137
|
G | A | 1 | a0008c0026t0009g0164 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.4281+475G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 13/40 | chr3 | 130404137 | ||||||
| chr3:130404188
|
C | A | 18 | a0009c0009t0002g0094a0009c0009t0002g0095a0009c0009t0002g0096others(15): Show | 20 | HG00438.hp1 HG01106.hp1 HG01109.hp2 others(17): Show |
intron_variant | MODIFIER | c.4281+526C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 13/40 | chr3 | 130404188 | ||||||
| chr3:130404188
|
CAG | C | 4 | a0038c0043t0001g0183a0038c0043t0003g0079a0073c0066t0006g0060others(1): Show | 4 | HG01109.hp1 HG02922.hp1 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.4281+529_4281+530d others(4): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 13/40 | INFO_REALIGN_3_PRIME | chr3 | 130404188 | |||||
| chr3:130404199
|
G | A | 1 | a0003c0004t0001g0151 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.4281+537G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 13/40 | chr3 | 130404199 | ||||||
| chr3:130404463
|
G | C | 1 | a0044c0105t0006g0214 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.4281+801G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 13/40 | chr3 | 130404463 | ||||||
| chr3:130404570
|
T | C | 2 | a0018c0018t0001g0158a0047c0084t0002g0271 | 2 | HG02257.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.4281+908T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 13/40 | chr3 | 130404570 | ||||||
| chr3:130404947
|
G | A | 1 | a0007c0064t0006g0038 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.4282-641G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 13/40 | chr3 | 130404947 | ||||||
| chr3:130404986
|
G | A | 2 | a0025c0041t0001g0177a0025c0041t0001g0178 | 2 | HG02818.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.4282-602G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 13/40 | chr3 | 130404986 | ||||||
| chr3:130405050
|
G | A | 22 | a0009c0009t0002g0094a0009c0009t0002g0095a0009c0009t0002g0096others(19): Show | 24 | HG00438.hp1 HG01106.hp1 HG01109.hp2 others(21): Show |
intron_variant | MODIFIER | c.4282-538G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 13/40 | chr3 | 130405050 | ||||||
| chr3:130405064
|
G | A | 66 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(63): Show | 68 | HG00408.hp2 HG00609.hp1 HG00621.hp1 others(65): Show |
intron_variant | MODIFIER | c.4282-524G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 13/40 | chr3 | 130405064 | ||||||
| chr3:130405184
|
A | G | 8 | a0004c0003t0001g0022a0004c0003t0001g0026a0004c0003t0001g0027others(5): Show | 8 | HG00438.hp2 HG02027.hp2 HG02056.hp1 others(5): Show |
intron_variant | MODIFIER | c.4282-404A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 13/40 | chr3 | 130405184 | ||||||
| chr3:130405295
|
G | A | 1 | a0008c0010t0001g0108 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.4282-293G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 13/40 | chr3 | 130405295 | ||||||
| chr3:130405324
|
G | A | 3 | a0040c0042t0011g0074a0040c0042t0011g0090a0058c0107t0003g0072 | 3 | HG02622.hp2 HG02809.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.4282-264G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 13/40 | chr3 | 130405324 | ||||||
| chr3:130405426
|
A | G | 144 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(141): Show | 150 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(147): Show |
intron_variant | MODIFIER | c.4282-162A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 13/40 | chr3 | 130405426 | ||||||
| chr3:130405453
|
T | A | 22 | a0009c0009t0002g0094a0009c0009t0002g0095a0009c0009t0002g0096others(19): Show | 24 | HG00438.hp1 HG01106.hp1 HG01109.hp2 others(21): Show |
intron_variant | MODIFIER | c.4282-135T>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 13/40 | chr3 | 130405453 | ||||||
| chr3:130405537
|
G | A | 1 | a0054c0091t0015g0031 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.4282-51G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 13/40 | chr3 | 130405537 | ||||||
| chr3:130405869
|
C | A | 2 | a0033c0029t0001g0117a0033c0029t0001g0120 | 2 | HG02258.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.4354-124C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 14/40 | chr3 | 130405869 | ||||||
| chr3:130405879
|
G | A | 1 | a0015c0015t0001g0125 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.4354-114G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 14/40 | chr3 | 130405879 | ||||||
| chr3:130405891
|
G | A | 11 | a0004c0003t0002g0199a0004c0003t0003g0087a0011c0012t0003g0083others(8): Show | 11 | HG02572.hp2 HG02717.hp2 HG02809.hp2 others(8): Show |
intron_variant | MODIFIER | c.4354-102G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 14/40 | chr3 | 130405891 | ||||||
| chr3:130406025
|
G | A | 1 | a0036c0030t0002g0212 | 1 | HG03471.hp2 | splice_region_variant&intron_variant | LOW | c.4380+6G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 15/40 | chr3 | 130406025 | ||||||
| chr3:130406028
|
G | A | 1 | a0004c0003t0001g0026 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.4380+9G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 15/40 | chr3 | 130406028 | ||||||
| chr3:130406327
|
A | G | 1 | a0007c0064t0006g0038 | 1 | NA19030.hp1 | splice_region_variant&intron_variant | LOW | c.4479+6A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 17/40 | chr3 | 130406327 | ||||||
| chr3:130406506
|
A | C | 212 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(209): Show | 220 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(217): Show |
intron_variant | MODIFIER | c.4479+185A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 17/40 | chr3 | 130406506 | ||||||
| chr3:130406839
|
A | G | 41 | a0003c0004t0001g0018a0003c0004t0001g0019a0003c0004t0001g0020others(38): Show | 41 | HG00544.hp1 HG00597.hp2 HG01361.hp1 others(38): Show |
intron_variant | MODIFIER | c.4479+518A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 17/40 | chr3 | 130406839 | ||||||
| chr3:130406967
|
G | T | 1 | a0015c0015t0001g0125 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.4479+646G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 17/40 | chr3 | 130406967 | ||||||
| chr3:130407014
|
G | T | 78 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(75): Show | 82 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(79): Show |
intron_variant | MODIFIER | c.4479+693G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 17/40 | chr3 | 130407014 | ||||||
| chr3:130407018
|
G | A | 22 | a0009c0009t0002g0094a0009c0009t0002g0095a0009c0009t0002g0096others(19): Show | 24 | HG00438.hp1 HG01106.hp1 HG01109.hp2 others(21): Show |
intron_variant | MODIFIER | c.4479+697G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 17/40 | chr3 | 130407018 | ||||||
| chr3:130407073
|
G | T | 2 | a0033c0029t0001g0117a0033c0029t0001g0120 | 2 | HG02258.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.4479+752G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 17/40 | chr3 | 130407073 | ||||||
| chr3:130407291
|
G | C | 1 | a0084c0049t0001g0126 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.4479+970G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 17/40 | chr3 | 130407291 | ||||||
| chr3:130407329
|
T | C | 2 | a0001c0001t0002g0239a0001c0001t0002g0268 | 2 | HG02735.hp2 HG02738.hp2 |
intron_variant | MODIFIER | c.4479+1008T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 17/40 | chr3 | 130407329 | ||||||
| chr3:130407353
|
G | A | 34 | a0007c0008t0003g0001a0007c0008t0003g0062a0007c0008t0003g0063others(31): Show | 37 | HG00438.hp1 HG00733.hp1 HG01069.hp1 others(34): Show |
intron_variant | MODIFIER | c.4479+1032G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 17/40 | chr3 | 130407353 | ||||||
| chr3:130407443
|
G | A | 46 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(43): Show | 48 | HG00408.hp2 HG00609.hp1 HG00621.hp1 others(45): Show |
intron_variant | MODIFIER | c.4479+1122G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 17/40 | chr3 | 130407443 | ||||||
| chr3:130407685
|
A | C | 1 | a0006c0005t0003g0081 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.4479+1364A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 17/40 | chr3 | 130407685 | ||||||
| chr3:130408130
|
A | G | 3 | a0005c0006t0004g0044a0005c0006t0004g0047a0005c0006t0004g0051 | 3 | NA19063.hp1 NA19065.hp1 NA19068.hp2 |
intron_variant | MODIFIER | c.4480-1196A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 17/40 | chr3 | 130408130 | ||||||
| chr3:130408152
|
C | T | 1 | a0005c0006t0004g0044 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.4480-1174C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 17/40 | chr3 | 130408152 | ||||||
| chr3:130408153
|
G | A | 1 | a0005c0006t0007g0007 | 2 | HG03490.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.4480-1173G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 17/40 | chr3 | 130408153 | ||||||
| chr3:130408213
|
G | A | 1 | a0060c0074t0002g0034 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.4480-1113G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 17/40 | chr3 | 130408213 | ||||||
| chr3:130408236
|
A | G | 154 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(151): Show | 159 | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(156): Show |
intron_variant | MODIFIER | c.4480-1090A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 17/40 | chr3 | 130408236 | ||||||
| chr3:130408269
|
T | G | 156 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(153): Show | 163 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(160): Show |
intron_variant | MODIFIER | c.4480-1057T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 17/40 | chr3 | 130408269 | ||||||
| chr3:130408270
|
G | C | 38 | a0007c0008t0003g0001a0007c0008t0003g0062a0007c0008t0003g0063others(35): Show | 41 | HG00438.hp1 HG00733.hp1 HG01069.hp1 others(38): Show |
intron_variant | MODIFIER | c.4480-1056G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 17/40 | chr3 | 130408270 | ||||||
| chr3:130408295
|
G | C | 4 | a0037c0032t0001g0181a0037c0032t0005g0057a0071c0071t0001g0180others(1): Show | 4 | HG02280.hp2 HG02622.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.4480-1031G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 17/40 | chr3 | 130408295 | ||||||
| chr3:130408377
|
C | T | 72 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(69): Show | 76 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(73): Show |
intron_variant | MODIFIER | c.4480-949C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 17/40 | chr3 | 130408377 | ||||||
| chr3:130408417
|
G | A | 2 | a0052c0101t0003g0061a0063c0055t0001g0116 | 2 | HG01243.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.4480-909G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 17/40 | chr3 | 130408417 | ||||||
| chr3:130408433
|
G | C | 41 | a0003c0004t0001g0018a0003c0004t0001g0019a0003c0004t0001g0020others(38): Show | 41 | HG00544.hp1 HG00597.hp2 HG01361.hp1 others(38): Show |
intron_variant | MODIFIER | c.4480-893G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 17/40 | chr3 | 130408433 | ||||||
| chr3:130408445
|
G | T | 1 | a0006c0005t0002g0252 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.4480-881G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 17/40 | chr3 | 130408445 | ||||||
| chr3:130408451
|
A | C | 114 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(111): Show | 121 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(118): Show |
intron_variant | MODIFIER | c.4480-875A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 17/40 | chr3 | 130408451 | ||||||
| chr3:130408529
|
G | A | 1 | a0013c0075t0016g0012 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.4480-797G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 17/40 | chr3 | 130408529 | ||||||
| chr3:130408546
|
T | C | 1 | a0054c0091t0015g0031 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.4480-780T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 17/40 | chr3 | 130408546 | ||||||
| chr3:130408598
|
C | A | 3 | a0001c0001t0002g0189a0001c0001t0002g0190a0001c0001t0002g0191 | 3 | HG00639.hp2 HG02698.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.4480-728C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 17/40 | chr3 | 130408598 | ||||||
| chr3:130408607
|
C | T | 114 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(111): Show | 121 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(118): Show |
intron_variant | MODIFIER | c.4480-719C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 17/40 | chr3 | 130408607 | ||||||
| chr3:130408626
|
C | T | 4 | a0016c0020t0001g0171a0016c0020t0001g0272a0016c0020t0001g0273others(1): Show | 4 | HG01891.hp2 HG02976.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.4480-700C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 17/40 | chr3 | 130408626 | ||||||
| chr3:130408645
|
CTAATAAA others(26): Show |
C | 1 | a0054c0091t0015g0031 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.4480-680_4480-648d others(35): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 17/40 | chr3 | 130408645 | ||||||
| chr3:130408695
|
C | T | 1 | a0044c0105t0006g0214 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.4480-631C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 17/40 | chr3 | 130408695 | ||||||
| chr3:130408740
|
C | A | 7 | a0013c0016t0001g0144a0013c0016t0010g0013a0013c0016t0010g0014others(4): Show | 7 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(4): Show |
intron_variant | MODIFIER | c.4480-586C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 17/40 | chr3 | 130408740 | ||||||
| chr3:130408767
|
A | G | 2 | a0007c0008t0003g0065a0007c0008t0003g0070 | 2 | HG03540.hp2 HG04204.hp1 |
intron_variant | MODIFIER | c.4480-559A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 17/40 | chr3 | 130408767 | ||||||
| chr3:130408768
|
G | A | 7 | a0013c0016t0001g0144a0013c0016t0010g0013a0013c0016t0010g0014others(4): Show | 7 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(4): Show |
intron_variant | MODIFIER | c.4480-558G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 17/40 | chr3 | 130408768 | ||||||
| chr3:130408807
|
T | G | 22 | a0009c0009t0002g0094a0009c0009t0002g0095a0009c0009t0002g0096others(19): Show | 24 | HG00438.hp1 HG01106.hp1 HG01109.hp2 others(21): Show |
intron_variant | MODIFIER | c.4480-519T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 17/40 | chr3 | 130408807 | ||||||
| chr3:130408831
|
C | T | 2 | a0035c0028t0001g0099a0035c0028t0001g0104 | 2 | HG01081.hp1 HG01175.hp1 |
intron_variant | MODIFIER | c.4480-495C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 17/40 | chr3 | 130408831 | ||||||
| chr3:130408862
|
G | A | 11 | a0004c0003t0003g0087a0011c0012t0003g0083a0011c0012t0003g0084others(8): Show | 11 | HG02572.hp2 HG02717.hp2 HG02809.hp2 others(8): Show |
intron_variant | MODIFIER | c.4480-464G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 17/40 | chr3 | 130408862 | ||||||
| chr3:130409036
|
C | A | 38 | a0007c0008t0003g0001a0007c0008t0003g0062a0007c0008t0003g0063others(35): Show | 41 | HG00438.hp1 HG00733.hp1 HG01069.hp1 others(38): Show |
intron_variant | MODIFIER | c.4480-290C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 17/40 | chr3 | 130409036 | ||||||
| chr3:130409037
|
G | A | 5 | a0014c0013t0001g0115a0037c0032t0001g0181a0037c0032t0005g0057others(2): Show | 5 | HG02280.hp2 HG02622.hp1 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.4480-289G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 17/40 | chr3 | 130409037 | ||||||
| chr3:130409109
|
A | G | 6 | a0013c0016t0001g0144a0013c0016t0010g0013a0013c0016t0010g0014others(3): Show | 6 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(3): Show |
intron_variant | MODIFIER | c.4480-217A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 17/40 | chr3 | 130409109 | ||||||
| chr3:130409136
|
C | T | 1 | a0044c0105t0006g0214 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.4480-190C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 17/40 | chr3 | 130409136 | ||||||
| chr3:130409156
|
A | G | 41 | a0003c0004t0001g0018a0003c0004t0001g0019a0003c0004t0001g0020others(38): Show | 41 | HG00544.hp1 HG00597.hp2 HG01361.hp1 others(38): Show |
intron_variant | MODIFIER | c.4480-170A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 17/40 | chr3 | 130409156 | ||||||
| chr3:130409201
|
A | C | 1 | a0054c0091t0015g0031 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.4480-125A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 17/40 | chr3 | 130409201 | ||||||
| chr3:130409246
|
C | G | 3 | a0040c0042t0011g0074a0040c0042t0011g0090a0081c0080t0011g0059 | 3 | HG02809.hp1 HG02895.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.4480-80C>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 17/40 | chr3 | 130409246 | ||||||
| chr3:130409587
|
C | T | 222 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(219): Show | 231 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(228): Show |
intron_variant | MODIFIER | c.4542+199C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 18/40 | chr3 | 130409587 | ||||||
| chr3:130409690
|
G | A | 45 | a0007c0008t0003g0001a0007c0008t0003g0062a0007c0008t0003g0063others(42): Show | 48 | HG00140.hp2 HG00438.hp1 HG00733.hp1 others(45): Show |
intron_variant | MODIFIER | c.4542+302G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 18/40 | chr3 | 130409690 | ||||||
| chr3:130409747
|
C | T | 1 | a0080c0069t0001g0134 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.4543-262C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 18/40 | chr3 | 130409747 | ||||||
| chr3:130409824
|
C | A | 69 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(66): Show | 73 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(70): Show |
intron_variant | MODIFIER | c.4543-185C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 18/40 | chr3 | 130409824 | ||||||
| chr3:130409847
|
T | A | 2 | a0018c0018t0001g0158a0047c0084t0002g0271 | 2 | HG02257.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.4543-162T>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 18/40 | chr3 | 130409847 | ||||||
| chr3:130409859
|
T | C | 2 | a0018c0018t0001g0158a0047c0084t0002g0271 | 2 | HG02257.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.4543-150T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 18/40 | chr3 | 130409859 | ||||||
| chr3:130409880
|
G | A | 1 | a0054c0091t0015g0031 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.4543-129G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 18/40 | chr3 | 130409880 | ||||||
| chr3:130409949
|
G | A | 50 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(47): Show | 52 | HG00408.hp2 HG00609.hp1 HG00621.hp1 others(49): Show |
intron_variant | MODIFIER | c.4543-60G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 18/40 | chr3 | 130409949 | ||||||
| chr3:130410003
|
C | G | 1 | a0090c0052t0003g0011 | 1 | HG03540.hp1 | splice_region_variant&intron_variant | LOW | c.4543-6C>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 18/40 | chr3 | 130410003 | ||||||
| chr3:130410107
|
A | C | 1 | a0003c0004t0002g0221 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.4608+33A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 19/40 | chr3 | 130410107 | ||||||
| chr3:130410191
|
G | T | 7 | a0013c0016t0001g0144a0013c0016t0010g0013a0013c0016t0010g0014others(4): Show | 7 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(4): Show |
intron_variant | MODIFIER | c.4608+117G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 19/40 | chr3 | 130410191 | ||||||
| chr3:130410284
|
T | TGTA | 121 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(118): Show | 128 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(125): Show |
intron_variant | MODIFIER | c.4609-185_4609-183d others(5): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 19/40 | INFO_REALIGN_3_PRIME | chr3 | 130410284 | |||||
| chr3:130410637
|
G | A | 2 | a0001c0040t0002g0240a0001c0040t0002g0241 | 2 | HG01358.hp1 HG01978.hp2 |
intron_variant | MODIFIER | c.4662+113G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 20/40 | chr3 | 130410637 | ||||||
| chr3:130410669
|
G | A | 4 | a0016c0020t0001g0171a0016c0020t0001g0272a0016c0020t0001g0273others(1): Show | 4 | HG01891.hp2 HG02976.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.4662+145G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 20/40 | chr3 | 130410669 | ||||||
| chr3:130410673
|
A | AG | 45 | a0007c0008t0003g0001a0007c0008t0003g0062a0007c0008t0003g0063others(42): Show | 48 | HG00140.hp2 HG00438.hp1 HG00733.hp1 others(45): Show |
intron_variant | MODIFIER | c.4662+149_4662+150i others(3): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 20/40 | chr3 | 130410673 | ||||||
| chr3:130410776
|
C | T | 69 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(66): Show | 73 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(70): Show |
intron_variant | MODIFIER | c.4662+252C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 20/40 | chr3 | 130410776 | ||||||
| chr3:130411213
|
C | T | 4 | a0025c0041t0001g0177a0025c0041t0001g0178a0059c0073t0003g0040others(1): Show | 4 | HG02109.hp1 HG02818.hp1 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.4662+689C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 20/40 | chr3 | 130411213 | ||||||
| chr3:130411272
|
C | T | 2 | a0004c0003t0002g0193a0004c0003t0002g0194 | 2 | HG00280.hp1 HG01943.hp2 |
intron_variant | MODIFIER | c.4662+748C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 20/40 | chr3 | 130411272 | ||||||
| chr3:130411313
|
A | G | 38 | a0007c0008t0003g0001a0007c0008t0003g0062a0007c0008t0003g0063others(35): Show | 41 | HG00438.hp1 HG00733.hp1 HG01069.hp1 others(38): Show |
intron_variant | MODIFIER | c.4662+789A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 20/40 | chr3 | 130411313 | ||||||
| chr3:130411499
|
C | T | 45 | a0007c0008t0003g0001a0007c0008t0003g0062a0007c0008t0003g0063others(42): Show | 48 | HG00140.hp2 HG00438.hp1 HG00733.hp1 others(45): Show |
intron_variant | MODIFIER | c.4662+975C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 20/40 | chr3 | 130411499 | ||||||
| chr3:130411543
|
T | C | 115 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(112): Show | 122 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(119): Show |
intron_variant | MODIFIER | c.4662+1019T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 20/40 | chr3 | 130411543 | ||||||
| chr3:130411605
|
T | C | 1 | a0003c0004t0001g0151 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.4662+1081T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 20/40 | chr3 | 130411605 | ||||||
| chr3:130411715
|
T | C | 1 | a0010c0007t0001g0105 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.4662+1191T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 20/40 | chr3 | 130411715 | ||||||
| chr3:130411729
|
A | G | 44 | a0007c0008t0003g0001a0007c0008t0003g0062a0007c0008t0003g0063others(41): Show | 47 | HG00140.hp2 HG00438.hp1 HG00733.hp1 others(44): Show |
intron_variant | MODIFIER | c.4662+1205A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 20/40 | chr3 | 130411729 | ||||||
| chr3:130411771
|
AG | A | 7 | a0013c0016t0001g0144a0013c0016t0010g0013a0013c0016t0010g0014others(4): Show | 7 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(4): Show |
intron_variant | MODIFIER | c.4662+1249delG | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 20/40 | INFO_REALIGN_3_PRIME | chr3 | 130411771 | |||||
| chr3:130411911
|
A | C | 1 | a0006c0005t0003g0041 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.4662+1387A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 20/40 | chr3 | 130411911 | ||||||
| chr3:130411944
|
C | T | 22 | a0009c0009t0002g0094a0009c0009t0002g0095a0009c0009t0002g0096others(19): Show | 24 | HG00438.hp1 HG01106.hp1 HG01109.hp2 others(21): Show |
intron_variant | MODIFIER | c.4662+1420C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 20/40 | chr3 | 130411944 | ||||||
| chr3:130411958
|
G | A | 44 | a0007c0008t0003g0001a0007c0008t0003g0062a0007c0008t0003g0063others(41): Show | 47 | HG00140.hp2 HG00438.hp1 HG00733.hp1 others(44): Show |
intron_variant | MODIFIER | c.4662+1434G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 20/40 | chr3 | 130411958 | ||||||
| chr3:130412048
|
T | G | 7 | a0013c0016t0001g0144a0013c0016t0010g0013a0013c0016t0010g0014others(4): Show | 7 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(4): Show |
intron_variant | MODIFIER | c.4663-1497T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 20/40 | chr3 | 130412048 | ||||||
| chr3:130412078
|
G | A | 1 | a0078c0062t0003g0216 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.4663-1467G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 20/40 | chr3 | 130412078 | ||||||
| chr3:130412100
|
C | T | 2 | a0001c0001t0002g0189a0001c0001t0002g0190 | 2 | HG00639.hp2 HG02698.hp1 |
intron_variant | MODIFIER | c.4663-1445C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 20/40 | chr3 | 130412100 | ||||||
| chr3:130412132
|
C | G | 48 | a0007c0008t0003g0001a0007c0008t0003g0062a0007c0008t0003g0063others(45): Show | 51 | HG00140.hp2 HG00438.hp1 HG00733.hp1 others(48): Show |
intron_variant | MODIFIER | c.4663-1413C>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 20/40 | chr3 | 130412132 | ||||||
| chr3:130412144
|
C | T | 63 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(60): Show | 66 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(63): Show |
intron_variant | MODIFIER | c.4663-1401C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 20/40 | chr3 | 130412144 | ||||||
| chr3:130412326
|
T | C | 1 | a0040c0042t0011g0090 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.4663-1219T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 20/40 | chr3 | 130412326 | ||||||
| chr3:130412340
|
A | G | 44 | a0007c0008t0003g0001a0007c0008t0003g0062a0007c0008t0003g0063others(41): Show | 47 | HG00140.hp2 HG00438.hp1 HG00733.hp1 others(44): Show |
intron_variant | MODIFIER | c.4663-1205A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 20/40 | chr3 | 130412340 | ||||||
| chr3:130412375
|
C | A | 3 | a0021c0039t0001g0122a0021c0039t0001g0139a0021c0096t0001g0109 | 3 | HG00438.hp1 NA18984.hp2 NA18995.hp2 |
intron_variant | MODIFIER | c.4663-1170C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 20/40 | chr3 | 130412375 | ||||||
| chr3:130412540
|
T | TTATCCTT others(324): Show |
1 | a0003c0004t0001g0019 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.4663-991_4663-990i others(333): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 20/40 | INFO_REALIGN_3_PRIME | chr3 | 130412540 | |||||
| chr3:130412603
|
T | C | 1 | a0085c0048t0001g0025 | 1 | NA18972.hp1 | intron_variant | MODIFIER | c.4663-942T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 20/40 | chr3 | 130412603 | ||||||
| chr3:130412674
|
G | A | 7 | a0013c0016t0001g0144a0013c0016t0010g0013a0013c0016t0010g0014others(4): Show | 7 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(4): Show |
intron_variant | MODIFIER | c.4663-871G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 20/40 | chr3 | 130412674 | ||||||
| chr3:130412803
|
G | A | 37 | a0007c0008t0003g0001a0007c0008t0003g0062a0007c0008t0003g0063others(34): Show | 40 | HG00438.hp1 HG00733.hp1 HG01069.hp1 others(37): Show |
intron_variant | MODIFIER | c.4663-742G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 20/40 | chr3 | 130412803 | ||||||
| chr3:130412813
|
T | G | 6 | a0009c0009t0002g0094a0009c0009t0002g0095a0009c0009t0002g0096others(3): Show | 6 | HG01123.hp2 HG01257.hp2 HG02129.hp1 others(3): Show |
intron_variant | MODIFIER | c.4663-732T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 20/40 | chr3 | 130412813 | ||||||
| chr3:130413013
|
A | G | 222 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(219): Show | 231 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(228): Show |
intron_variant | MODIFIER | c.4663-532A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 20/40 | chr3 | 130413013 | ||||||
| chr3:130413016
|
C | T | 7 | a0013c0016t0001g0144a0013c0016t0010g0013a0013c0016t0010g0014others(4): Show | 7 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(4): Show |
intron_variant | MODIFIER | c.4663-529C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 20/40 | chr3 | 130413016 | ||||||
| chr3:130413058
|
G | A | 1 | a0073c0066t0006g0060 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.4663-487G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 20/40 | chr3 | 130413058 | ||||||
| chr3:130413228
|
C | T | 70 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(67): Show | 74 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(71): Show |
intron_variant | MODIFIER | c.4663-317C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 20/40 | chr3 | 130413228 | ||||||
| chr3:130413313
|
C | G | 7 | a0013c0016t0001g0144a0013c0016t0010g0013a0013c0016t0010g0014others(4): Show | 7 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(4): Show |
intron_variant | MODIFIER | c.4663-232C>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 20/40 | chr3 | 130413313 | ||||||
| chr3:130413358
|
C | T | 37 | a0007c0008t0003g0001a0007c0008t0003g0062a0007c0008t0003g0063others(34): Show | 40 | HG00438.hp1 HG00733.hp1 HG01069.hp1 others(37): Show |
intron_variant | MODIFIER | c.4663-187C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 20/40 | chr3 | 130413358 | ||||||
| chr3:130413458
|
T | A | 74 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(71): Show | 78 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(75): Show |
intron_variant | MODIFIER | c.4663-87T>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 20/40 | chr3 | 130413458 | ||||||
| chr3:130413460
|
G | T | 74 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(71): Show | 78 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(75): Show |
intron_variant | MODIFIER | c.4663-85G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 20/40 | chr3 | 130413460 | ||||||
| chr3:130413494
|
AC | A | 4 | a0009c0009t0002g0282a0017c0019t0002g0009a0017c0019t0002g0248others(1): Show | 5 | NA18975.hp1 NA19001.hp1 NA19001.hp2 others(2): Show |
intron_variant | MODIFIER | c.4663-47delC | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 20/40 | INFO_REALIGN_3_PRIME | chr3 | 130413494 | |||||
| chr3:130413665
|
A | G | 75 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(72): Show | 79 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(76): Show |
intron_variant | MODIFIER | c.4698+85A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 21/40 | chr3 | 130413665 | ||||||
| chr3:130413740
|
C | T | 4 | a0016c0020t0001g0171a0016c0020t0001g0272a0016c0020t0001g0273others(1): Show | 4 | HG01891.hp2 HG02976.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.4698+160C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 21/40 | chr3 | 130413740 | ||||||
| chr3:130413787
|
G | C | 71 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(68): Show | 75 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(72): Show |
intron_variant | MODIFIER | c.4698+207G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 21/40 | chr3 | 130413787 | ||||||
| chr3:130413824
|
GC | G | 75 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(72): Show | 79 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(76): Show |
intron_variant | MODIFIER | c.4699-244delC | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 21/40 | chr3 | 130413824 | ||||||
| chr3:130413826
|
A | T | 75 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(72): Show | 79 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(76): Show |
intron_variant | MODIFIER | c.4699-243A>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 21/40 | chr3 | 130413826 | ||||||
| chr3:130413830
|
G | T | 75 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(72): Show | 79 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(76): Show |
intron_variant | MODIFIER | c.4699-239G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 21/40 | chr3 | 130413830 | ||||||
| chr3:130413832
|
C | T | 75 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(72): Show | 79 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(76): Show |
intron_variant | MODIFIER | c.4699-237C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 21/40 | chr3 | 130413832 | ||||||
| chr3:130413842
|
T | A | 1 | a0001c0001t0002g0233 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.4699-227T>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 21/40 | chr3 | 130413842 | ||||||
| chr3:130413929
|
T | C | 3 | a0028c0036t0003g0075a0028c0036t0003g0077a0029c0087t0006g0076 | 3 | HG01123.hp1 HG02970.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.4699-140T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 21/40 | chr3 | 130413929 | ||||||
| chr3:130413990
|
G | T | 1 | a0039c0031t0006g0067 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.4699-79G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 21/40 | chr3 | 130413990 | ||||||
| chr3:130414007
|
A | G | 119 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(116): Show | 126 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(123): Show |
intron_variant | MODIFIER | c.4699-62A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 21/40 | chr3 | 130414007 | ||||||
| chr3:130414299
|
G | A | 77 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(74): Show | 81 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(78): Show |
intron_variant | MODIFIER | c.4761+168G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 22/40 | chr3 | 130414299 | ||||||
| chr3:130414447
|
C | T | 1 | a0007c0064t0006g0038 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.4761+316C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 22/40 | chr3 | 130414447 | ||||||
| chr3:130414481
|
A | G | 3 | a0033c0029t0001g0117a0033c0029t0001g0120a0044c0105t0006g0214 | 3 | HG00735.hp2 HG02258.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.4761+350A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 22/40 | chr3 | 130414481 | ||||||
| chr3:130414517
|
A | C | 2 | a0033c0029t0001g0117a0033c0029t0001g0120 | 2 | HG02258.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.4761+386A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 22/40 | chr3 | 130414517 | ||||||
| chr3:130414592
|
G | T | 4 | a0033c0029t0001g0117a0033c0029t0001g0120a0044c0105t0006g0214others(1): Show | 4 | HG00735.hp2 HG02258.hp2 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.4761+461G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 22/40 | chr3 | 130414592 | ||||||
| chr3:130414776
|
T | C | 71 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(68): Show | 75 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(72): Show |
intron_variant | MODIFIER | c.4761+645T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 22/40 | chr3 | 130414776 | ||||||
| chr3:130414843
|
C | T | 7 | a0010c0007t0001g0140a0010c0007t0001g0163a0010c0007t0001g0167others(4): Show | 7 | HG01255.hp2 HG01346.hp2 HG01943.hp1 others(4): Show |
intron_variant | MODIFIER | c.4761+712C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 22/40 | chr3 | 130414843 | ||||||
| chr3:130414862
|
G | A | 4 | a0033c0029t0001g0117a0033c0029t0001g0120a0044c0105t0006g0214others(1): Show | 4 | HG00735.hp2 HG02258.hp2 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.4761+731G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 22/40 | chr3 | 130414862 | ||||||
| chr3:130414958
|
C | A | 44 | a0007c0008t0003g0001a0007c0008t0003g0062a0007c0008t0003g0063others(41): Show | 47 | HG00140.hp2 HG00438.hp1 HG00733.hp1 others(44): Show |
intron_variant | MODIFIER | c.4762-687C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 22/40 | chr3 | 130414958 | ||||||
| chr3:130415025
|
G | A | 44 | a0007c0008t0003g0001a0007c0008t0003g0062a0007c0008t0003g0063others(41): Show | 47 | HG00140.hp2 HG00438.hp1 HG00733.hp1 others(44): Show |
intron_variant | MODIFIER | c.4762-620G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 22/40 | chr3 | 130415025 | ||||||
| chr3:130415156
|
G | A | 69 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(66): Show | 73 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(70): Show |
intron_variant | MODIFIER | c.4762-489G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 22/40 | chr3 | 130415156 | ||||||
| chr3:130415231
|
T | C | 71 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(68): Show | 75 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(72): Show |
intron_variant | MODIFIER | c.4762-414T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 22/40 | chr3 | 130415231 | ||||||
| chr3:130415244
|
C | T | 2 | a0003c0004t0001g0018a0003c0004t0001g0019 | 2 | HG01975.hp1 HG01993.hp2 |
intron_variant | MODIFIER | c.4762-401C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 22/40 | chr3 | 130415244 | ||||||
| chr3:130415282
|
C | T | 71 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(68): Show | 75 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(72): Show |
intron_variant | MODIFIER | c.4762-363C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 22/40 | chr3 | 130415282 | ||||||
| chr3:130415293
|
A | G | 7 | a0013c0016t0001g0144a0013c0016t0010g0013a0013c0016t0010g0014others(4): Show | 7 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(4): Show |
intron_variant | MODIFIER | c.4762-352A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 22/40 | chr3 | 130415293 | ||||||
| chr3:130415387
|
C | T | 1 | a0003c0004t0001g0093 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.4762-258C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 22/40 | chr3 | 130415387 | ||||||
| chr3:130415388
|
G | A | 4 | a0019c0017t0003g0277a0019c0017t0003g0279a0023c0021t0006g0002others(1): Show | 5 | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(2): Show |
intron_variant | MODIFIER | c.4762-257G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 22/40 | chr3 | 130415388 | ||||||
| chr3:130415609
|
C | T | 34 | a0007c0008t0003g0001a0007c0008t0003g0062a0007c0008t0003g0063others(31): Show | 37 | HG00438.hp1 HG00733.hp1 HG01069.hp1 others(34): Show |
intron_variant | MODIFIER | c.4762-36C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 22/40 | chr3 | 130415609 | ||||||
| chr3:130415610
|
A | G | 37 | a0007c0008t0003g0001a0007c0008t0003g0062a0007c0008t0003g0063others(34): Show | 40 | HG00438.hp1 HG00733.hp1 HG01069.hp1 others(37): Show |
intron_variant | MODIFIER | c.4762-35A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 22/40 | chr3 | 130415610 | ||||||
| chr3:130415612
|
A | G | 3 | a0040c0042t0011g0074a0040c0042t0011g0090a0058c0107t0003g0072 | 3 | HG02622.hp2 HG02809.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.4762-33A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 22/40 | chr3 | 130415612 | ||||||
| chr3:130415638
|
A | G | 1 | a0003c0025t0002g0257 | 1 | HG02683.hp2 | splice_region_variant&intron_variant | LOW | c.4762-7A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 22/40 | chr3 | 130415638 | ||||||
| chr3:130415719
|
G | A | 115 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(112): Show | 122 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(119): Show |
intron_variant | MODIFIER | c.4824+12G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 23/40 | chr3 | 130415719 | ||||||
| chr3:130415869
|
G | T | 34 | a0007c0008t0003g0001a0007c0008t0003g0062a0007c0008t0003g0063others(31): Show | 37 | HG00438.hp1 HG00733.hp1 HG01069.hp1 others(34): Show |
intron_variant | MODIFIER | c.4824+162G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 23/40 | chr3 | 130415869 | ||||||
| chr3:130415880
|
A | T | 4 | a0038c0043t0001g0183a0038c0043t0003g0079a0073c0066t0006g0060others(1): Show | 4 | HG01109.hp1 HG02922.hp1 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.4824+173A>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 23/40 | chr3 | 130415880 | ||||||
| chr3:130415996
|
A | G | 54 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(51): Show | 56 | HG00408.hp2 HG00609.hp1 HG00621.hp1 others(53): Show |
intron_variant | MODIFIER | c.4824+289A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 23/40 | chr3 | 130415996 | ||||||
| chr3:130416145
|
C | A | 7 | a0013c0016t0001g0144a0013c0016t0010g0013a0013c0016t0010g0014others(4): Show | 7 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(4): Show |
intron_variant | MODIFIER | c.4824+438C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 23/40 | chr3 | 130416145 | ||||||
| chr3:130416208
|
A | G | 3 | a0007c0008t0003g0062a0007c0008t0003g0063a0007c0008t0003g0069 | 3 | HG01257.hp1 HG01258.hp2 HG01261.hp2 |
intron_variant | MODIFIER | c.4824+501A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 23/40 | chr3 | 130416208 | ||||||
| chr3:130416232
|
G | T | 7 | a0013c0016t0001g0144a0013c0016t0010g0013a0013c0016t0010g0014others(4): Show | 7 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(4): Show |
intron_variant | MODIFIER | c.4824+525G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 23/40 | chr3 | 130416232 | ||||||
| chr3:130416240
|
G | A | 163 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(160): Show | 170 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(167): Show |
intron_variant | MODIFIER | c.4825-517G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 23/40 | chr3 | 130416240 | ||||||
| chr3:130416378
|
C | T | 1 | a0001c0001t0001g0106 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.4825-379C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 23/40 | chr3 | 130416378 | ||||||
| chr3:130416400
|
C | T | 4 | a0038c0043t0001g0183a0038c0043t0003g0079a0073c0066t0006g0060others(1): Show | 4 | HG01109.hp1 HG02922.hp1 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.4825-357C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 23/40 | chr3 | 130416400 | ||||||
| chr3:130416404
|
C | T | 70 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(67): Show | 74 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(71): Show |
intron_variant | MODIFIER | c.4825-353C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 23/40 | chr3 | 130416404 | ||||||
| chr3:130416491
|
G | A | 10 | a0004c0003t0003g0087a0011c0012t0003g0083a0011c0012t0003g0084others(7): Show | 10 | HG02572.hp2 HG02717.hp2 HG02809.hp2 others(7): Show |
intron_variant | MODIFIER | c.4825-266G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 23/40 | chr3 | 130416491 | ||||||
| chr3:130416521
|
G | A | 7 | a0013c0016t0001g0144a0013c0016t0010g0013a0013c0016t0010g0014others(4): Show | 7 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(4): Show |
intron_variant | MODIFIER | c.4825-236G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 23/40 | chr3 | 130416521 | ||||||
| chr3:130416612
|
T | C | 164 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(161): Show | 171 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(168): Show |
intron_variant | MODIFIER | c.4825-145T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 23/40 | chr3 | 130416612 | ||||||
| chr3:130416692
|
G | A | 7 | a0013c0016t0001g0144a0013c0016t0010g0013a0013c0016t0010g0014others(4): Show | 7 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(4): Show |
intron_variant | MODIFIER | c.4825-65G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 23/40 | chr3 | 130416692 | ||||||
| chr3:130416728
|
A | C | 1 | a0003c0025t0002g0257 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.4825-29A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 23/40 | chr3 | 130416728 | ||||||
| chr3:130416731
|
A | T | 160 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(157): Show | 167 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(164): Show |
intron_variant | MODIFIER | c.4825-26A>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 23/40 | chr3 | 130416731 | ||||||
| chr3:130417010
|
GC | G | 7 | a0013c0016t0001g0144a0013c0016t0010g0013a0013c0016t0010g0014others(4): Show | 7 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(4): Show |
intron_variant | MODIFIER | c.4887+196delC | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 24/40 | INFO_REALIGN_3_PRIME | chr3 | 130417010 | |||||
| chr3:130417044
|
C | T | 4 | a0033c0029t0001g0117a0033c0029t0001g0120a0044c0105t0006g0214others(1): Show | 4 | HG00735.hp2 HG02258.hp2 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.4887+225C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 24/40 | chr3 | 130417044 | ||||||
| chr3:130417107
|
C | T | 1 | a0065c0060t0005g0042 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.4887+288C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 24/40 | chr3 | 130417107 | ||||||
| chr3:130417196
|
C | G | 160 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(157): Show | 167 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(164): Show |
intron_variant | MODIFIER | c.4887+377C>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 24/40 | chr3 | 130417196 | ||||||
| chr3:130417249
|
G | T | 1 | a0084c0049t0001g0126 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.4887+430G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 24/40 | chr3 | 130417249 | ||||||
| chr3:130417445
|
C | T | 6 | a0019c0017t0001g0153a0019c0017t0003g0277a0019c0017t0003g0278others(3): Show | 7 | HG00639.hp1 HG00738.hp2 HG01167.hp1 others(4): Show |
intron_variant | MODIFIER | c.4887+626C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 24/40 | chr3 | 130417445 | ||||||
| chr3:130417483
|
G | T | 1 | a0021c0039t0001g0122 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.4887+664G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 24/40 | chr3 | 130417483 | ||||||
| chr3:130417521
|
C | T | 1 | a0015c0015t0009g0168 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.4887+702C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 24/40 | chr3 | 130417521 | ||||||
| chr3:130417569
|
G | A | 1 | a0011c0012t0001g0023 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.4887+750G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 24/40 | chr3 | 130417569 | ||||||
| chr3:130417627
|
G | A | 2 | a0018c0018t0005g0054a0018c0018t0005g0055 | 2 | HG02809.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.4887+808G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 24/40 | chr3 | 130417627 | ||||||
| chr3:130417647
|
TGTTGGG | T | 34 | a0007c0008t0003g0001a0007c0008t0003g0062a0007c0008t0003g0063others(31): Show | 37 | HG00438.hp1 HG00733.hp1 HG01069.hp1 others(34): Show |
intron_variant | MODIFIER | c.4887+830_4887+835d others(8): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 24/40 | INFO_REALIGN_3_PRIME | chr3 | 130417647 | |||||
| chr3:130417671
|
T | C | 222 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(219): Show | 231 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(228): Show |
intron_variant | MODIFIER | c.4887+852T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 24/40 | chr3 | 130417671 | ||||||
| chr3:130417687
|
A | C | 70 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(67): Show | 74 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(71): Show |
intron_variant | MODIFIER | c.4887+868A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 24/40 | chr3 | 130417687 | ||||||
| chr3:130417694
|
C | T | 1 | a0007c0064t0006g0038 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.4887+875C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 24/40 | chr3 | 130417694 | ||||||
| chr3:130417779
|
C | A | 1 | a0002c0002t0002g0227 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.4887+960C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 24/40 | chr3 | 130417779 | ||||||
| chr3:130417997
|
T | G | 4 | a0040c0042t0011g0074a0040c0042t0011g0090a0054c0091t0015g0031others(1): Show | 4 | HG02622.hp2 HG02809.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.4888-872T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 24/40 | chr3 | 130417997 | ||||||
| chr3:130418005
|
C | T | 58 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(55): Show | 60 | HG00408.hp2 HG00609.hp1 HG00621.hp1 others(57): Show |
intron_variant | MODIFIER | c.4888-864C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 24/40 | chr3 | 130418005 | ||||||
| chr3:130418092
|
GATAC | G | 4 | a0033c0029t0001g0117a0033c0029t0001g0120a0044c0105t0006g0214others(1): Show | 4 | HG00735.hp2 HG02258.hp2 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.4888-774_4888-771d others(6): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 24/40 | INFO_REALIGN_3_PRIME | chr3 | 130418092 | |||||
| chr3:130418131
|
CAT | C | 4 | a0033c0029t0001g0117a0033c0029t0001g0120a0044c0105t0006g0214others(1): Show | 4 | HG00735.hp2 HG02258.hp2 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.4888-733_4888-732d others(4): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 24/40 | INFO_REALIGN_3_PRIME | chr3 | 130418131 | |||||
| chr3:130418242
|
G | A | 1 | a0006c0005t0002g0228 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.4888-627G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 24/40 | chr3 | 130418242 | ||||||
| chr3:130418249
|
T | G | 1 | a0054c0091t0015g0031 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.4888-620T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 24/40 | chr3 | 130418249 | ||||||
| chr3:130418308
|
G | C | 22 | a0009c0009t0002g0094a0009c0009t0002g0095a0009c0009t0002g0096others(19): Show | 24 | HG00438.hp1 HG01106.hp1 HG01109.hp2 others(21): Show |
intron_variant | MODIFIER | c.4888-561G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 24/40 | chr3 | 130418308 | ||||||
| chr3:130418390
|
C | T | 1 | a0045c0077t0001g0176 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.4888-479C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 24/40 | chr3 | 130418390 | ||||||
| chr3:130418425
|
A | G | 5 | a0033c0029t0001g0117a0033c0029t0001g0120a0044c0105t0006g0214others(2): Show | 5 | HG00735.hp2 HG02258.hp2 HG02615.hp2 others(2): Show |
intron_variant | MODIFIER | c.4888-444A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 24/40 | chr3 | 130418425 | ||||||
| chr3:130418627
|
G | A | 41 | a0003c0004t0001g0018a0003c0004t0001g0019a0003c0004t0001g0020others(38): Show | 41 | HG00544.hp1 HG00597.hp2 HG01361.hp1 others(38): Show |
intron_variant | MODIFIER | c.4888-242G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 24/40 | chr3 | 130418627 | ||||||
| chr3:130418842
|
T | C | 4 | a0038c0043t0001g0183a0038c0043t0003g0079a0073c0066t0006g0060others(1): Show | 4 | HG01109.hp1 HG02922.hp1 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.4888-27T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 24/40 | chr3 | 130418842 | ||||||
| chr3:130418983
|
A | C | 1 | a0010c0007t0001g0170 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.4950+52A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 25/40 | chr3 | 130418983 | ||||||
| chr3:130419022
|
G | A | 110 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(107): Show | 114 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(111): Show |
intron_variant | MODIFIER | c.4950+91G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 25/40 | chr3 | 130419022 | ||||||
| chr3:130419026
|
G | T | 1 | a0082c0045t0001g0118 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.4950+95G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 25/40 | chr3 | 130419026 | ||||||
| chr3:130419027
|
C | T | 46 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(43): Show | 48 | HG00408.hp2 HG00609.hp1 HG00621.hp1 others(45): Show |
intron_variant | MODIFIER | c.4950+96C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 25/40 | chr3 | 130419027 | ||||||
| chr3:130419112
|
G | A | 3 | a0040c0042t0011g0074a0040c0042t0011g0090a0058c0107t0003g0072 | 3 | HG02622.hp2 HG02809.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.4950+181G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 25/40 | chr3 | 130419112 | ||||||
| chr3:130419146
|
G | C | 2 | a0002c0002t0001g0004a0002c0002t0001g0121 | 3 | NA18975.hp2 NA19065.hp2 NA19070.hp2 |
intron_variant | MODIFIER | c.4950+215G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 25/40 | chr3 | 130419146 | ||||||
| chr3:130419273
|
A | G | 222 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(219): Show | 231 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(228): Show |
intron_variant | MODIFIER | c.4950+342A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 25/40 | chr3 | 130419273 | ||||||
| chr3:130419328
|
T | G | 11 | a0013c0016t0001g0144a0013c0016t0010g0013a0013c0016t0010g0014others(8): Show | 11 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(8): Show |
intron_variant | MODIFIER | c.4950+397T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 25/40 | chr3 | 130419328 | ||||||
| chr3:130419437
|
G | A | 6 | a0019c0017t0001g0153a0019c0017t0003g0277a0019c0017t0003g0278others(3): Show | 7 | HG00639.hp1 HG00738.hp2 HG01167.hp1 others(4): Show |
intron_variant | MODIFIER | c.4950+506G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 25/40 | chr3 | 130419437 | ||||||
| chr3:130419618
|
A | C | 2 | a0052c0101t0003g0061a0063c0055t0001g0116 | 2 | HG01243.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.4950+687A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 25/40 | chr3 | 130419618 | ||||||
| chr3:130419663
|
A | G | 1 | a0032c0100t0002g0232 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.4950+732A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 25/40 | chr3 | 130419663 | ||||||
| chr3:130419680
|
A | G | 1 | a0002c0002t0001g0131 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.4950+749A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 25/40 | chr3 | 130419680 | ||||||
| chr3:130419803
|
TAGAA | T | 11 | a0002c0002t0001g0103a0002c0002t0001g0110a0002c0002t0001g0129others(8): Show | 11 | HG00609.hp1 HG02027.hp1 HG02155.hp1 others(8): Show |
intron_variant | MODIFIER | c.4950+877_4950+880d others(6): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 25/40 | INFO_REALIGN_3_PRIME | chr3 | 130419803 | |||||
| chr3:130419898
|
A | C | 82 | a0003c0025t0001g0124a0004c0003t0001g0022a0004c0003t0001g0026others(79): Show | 86 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(83): Show |
intron_variant | MODIFIER | c.4950+967A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 25/40 | chr3 | 130419898 | ||||||
| chr3:130420144
|
A | AGAAG | 91 | a0004c0003t0001g0022a0004c0003t0001g0026a0004c0003t0001g0027others(88): Show | 95 | HG00140.hp2 HG00280.hp1 HG00438.hp1 others(92): Show |
intron_variant | MODIFIER | c.4951-1000_4951-997 others(7): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 25/40 | INFO_REALIGN_3_PRIME | chr3 | 130420144 | |||||
| chr3:130420144
|
A | AGAAGGAA others(1): Show |
89 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(86): Show | 93 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(90): Show |
intron_variant | MODIFIER | c.4951-1004_4951-997 others(11): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 25/40 | INFO_REALIGN_3_PRIME | chr3 | 130420144 | |||||
| chr3:130420419
|
C | T | 1 | a0043c0104t0002g0092 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.4951-734C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 25/40 | chr3 | 130420419 | ||||||
| chr3:130420701
|
G | A | 1 | a0049c0093t0007g0184 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.4951-452G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 25/40 | chr3 | 130420701 | ||||||
| chr3:130420762
|
A | AT | 144 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(141): Show | 151 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(148): Show |
intron_variant | MODIFIER | c.4951-384dupT | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 25/40 | INFO_REALIGN_3_PRIME | chr3 | 130420762 | |||||
| chr3:130420784
|
C | T | 5 | a0016c0020t0001g0171a0016c0020t0001g0272a0016c0020t0001g0273others(2): Show | 5 | HG01891.hp2 HG02615.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.4951-369C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 25/40 | chr3 | 130420784 | ||||||
| chr3:130421040
|
C | T | 71 | a0004c0003t0001g0022a0004c0003t0001g0026a0004c0003t0001g0027others(68): Show | 74 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(71): Show |
intron_variant | MODIFIER | c.4951-113C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 25/40 | chr3 | 130421040 | ||||||
| chr3:130421269
|
T | A | 13 | a0013c0016t0001g0144a0013c0016t0010g0013a0013c0016t0010g0014others(10): Show | 13 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(10): Show |
intron_variant | MODIFIER | c.5002-56T>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 26/40 | chr3 | 130421269 | ||||||
| chr3:130421553
|
A | G | 1 | a0001c0001t0002g0010 | 2 | HG01070.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.5037+193A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 27/40 | chr3 | 130421553 | ||||||
| chr3:130421674
|
T | C | 1 | a0027c0089t0002g0200 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.5037+314T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 27/40 | chr3 | 130421674 | ||||||
| chr3:130421792
|
C | T | 18 | a0005c0006t0004g0044a0005c0006t0004g0047a0005c0006t0004g0048others(15): Show | 19 | HG00609.hp2 HG01109.hp2 HG01981.hp2 others(16): Show |
intron_variant | MODIFIER | c.5037+432C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 27/40 | chr3 | 130421792 | ||||||
| chr3:130421929
|
C | T | 1 | a0043c0104t0002g0092 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.5037+569C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 27/40 | chr3 | 130421929 | ||||||
| chr3:130422134
|
G | C | 1 | a0001c0001t0002g0242 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.5038-586G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 27/40 | chr3 | 130422134 | ||||||
| chr3:130422173
|
G | A | 1 | a0013c0016t0010g0013 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.5038-547G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 27/40 | chr3 | 130422173 | ||||||
| chr3:130422272
|
A | G | 13 | a0013c0016t0001g0144a0013c0016t0010g0013a0013c0016t0010g0014others(10): Show | 13 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(10): Show |
intron_variant | MODIFIER | c.5038-448A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 27/40 | chr3 | 130422272 | ||||||
| chr3:130422355
|
CT | C | 85 | a0004c0003t0001g0022a0004c0003t0001g0026a0004c0003t0001g0027others(82): Show | 88 | HG00140.hp2 HG00280.hp1 HG00438.hp1 others(85): Show |
intron_variant | MODIFIER | c.5038-359delT | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 27/40 | INFO_REALIGN_3_PRIME | chr3 | 130422355 | |||||
| chr3:130422462
|
C | T | 85 | a0004c0003t0001g0022a0004c0003t0001g0026a0004c0003t0001g0027others(82): Show | 88 | HG00140.hp2 HG00280.hp1 HG00438.hp1 others(85): Show |
intron_variant | MODIFIER | c.5038-258C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 27/40 | chr3 | 130422462 | ||||||
| chr3:130422583
|
G | T | 37 | a0004c0003t0001g0022a0004c0003t0001g0026a0004c0003t0001g0027others(34): Show | 38 | HG00280.hp1 HG00438.hp2 HG00544.hp2 others(35): Show |
intron_variant | MODIFIER | c.5038-137G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 27/40 | chr3 | 130422583 | ||||||
| chr3:130422608
|
A | G | 71 | a0004c0003t0001g0022a0004c0003t0001g0026a0004c0003t0001g0027others(68): Show | 74 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(71): Show |
intron_variant | MODIFIER | c.5038-112A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 27/40 | chr3 | 130422608 | ||||||
| chr3:130422845
|
A | G | 1 | a0008c0010t0001g0108 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.5100+63A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 28/40 | chr3 | 130422845 | ||||||
| chr3:130422971
|
C | G | 85 | a0004c0003t0001g0022a0004c0003t0001g0026a0004c0003t0001g0027others(82): Show | 88 | HG00140.hp2 HG00280.hp1 HG00438.hp1 others(85): Show |
intron_variant | MODIFIER | c.5100+189C>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 28/40 | chr3 | 130422971 | ||||||
| chr3:130423093
|
G | C | 1 | a0003c0004t0001g0093 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.5100+311G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 28/40 | chr3 | 130423093 | ||||||
| chr3:130423306
|
A | G | 2 | a0033c0029t0001g0117a0033c0029t0001g0120 | 2 | HG02258.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.5100+524A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 28/40 | chr3 | 130423306 | ||||||
| chr3:130423308
|
C | T | 2 | a0001c0001t0002g0265a0091c0078t0002g0276 | 2 | HG01081.hp2 HG01981.hp1 |
intron_variant | MODIFIER | c.5100+526C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 28/40 | chr3 | 130423308 | ||||||
| chr3:130423418
|
C | T | 2 | a0039c0031t0006g0067a0039c0031t0006g0068 | 2 | HG01069.hp1 HG01175.hp2 |
intron_variant | MODIFIER | c.5101-420C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 28/40 | chr3 | 130423418 | ||||||
| chr3:130423513
|
G | A | 6 | a0038c0043t0001g0183a0038c0043t0003g0079a0052c0101t0003g0061others(3): Show | 6 | HG01109.hp1 HG01243.hp1 HG02647.hp2 others(3): Show |
intron_variant | MODIFIER | c.5101-325G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 28/40 | chr3 | 130423513 | ||||||
| chr3:130423567
|
G | A | 9 | a0007c0008t0003g0001a0007c0008t0003g0062a0007c0008t0003g0063others(6): Show | 10 | HG00733.hp1 HG01256.hp1 HG01257.hp1 others(7): Show |
intron_variant | MODIFIER | c.5101-271G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 28/40 | chr3 | 130423567 | ||||||
| chr3:130423575
|
C | T | 5 | a0016c0020t0001g0171a0016c0020t0001g0272a0016c0020t0001g0273others(2): Show | 5 | HG01891.hp2 HG02615.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.5101-263C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 28/40 | chr3 | 130423575 | ||||||
| chr3:130423675
|
G | T | 1 | a0003c0079t0001g0107 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.5101-163G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 28/40 | chr3 | 130423675 | ||||||
| chr3:130423740
|
A | T | 87 | a0004c0003t0001g0022a0004c0003t0001g0026a0004c0003t0001g0027others(84): Show | 90 | HG00140.hp2 HG00280.hp1 HG00438.hp1 others(87): Show |
intron_variant | MODIFIER | c.5101-98A>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 28/40 | chr3 | 130423740 | ||||||
| chr3:130423743
|
AT | A | 144 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(141): Show | 151 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(148): Show |
intron_variant | MODIFIER | c.5101-87delT | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 28/40 | INFO_REALIGN_3_PRIME | chr3 | 130423743 | |||||
| chr3:130423766
|
T | G | 31 | a0003c0004t0001g0018a0003c0004t0001g0019a0003c0004t0001g0020others(28): Show | 31 | HG01069.hp1 HG01175.hp2 HG01346.hp1 others(28): Show |
intron_variant | MODIFIER | c.5101-72T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 28/40 | chr3 | 130423766 | ||||||
| chr3:130423999
|
C | T | 70 | a0004c0003t0001g0022a0004c0003t0001g0026a0004c0003t0001g0027others(67): Show | 73 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(70): Show |
intron_variant | MODIFIER | c.5163+99C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 29/40 | chr3 | 130423999 | ||||||
| chr3:130424082
|
C | T | 16 | a0013c0016t0001g0144a0013c0016t0010g0013a0013c0016t0010g0014others(13): Show | 16 | HG00140.hp2 HG00735.hp2 HG01169.hp2 others(13): Show |
intron_variant | MODIFIER | c.5163+182C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 29/40 | chr3 | 130424082 | ||||||
| chr3:130424150
|
G | T | 1 | a0001c0001t0002g0247 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.5163+250G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 29/40 | chr3 | 130424150 | ||||||
| chr3:130424151
|
G | T | 37 | a0004c0003t0001g0022a0004c0003t0001g0026a0004c0003t0001g0027others(34): Show | 38 | HG00280.hp1 HG00438.hp2 HG00544.hp2 others(35): Show |
intron_variant | MODIFIER | c.5163+251G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 29/40 | chr3 | 130424151 | ||||||
| chr3:130424271
|
A | G | 33 | a0005c0006t0004g0044a0005c0006t0004g0047a0005c0006t0004g0048others(30): Show | 35 | HG00438.hp1 HG00609.hp2 HG01106.hp1 others(32): Show |
intron_variant | MODIFIER | c.5163+371A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 29/40 | chr3 | 130424271 | ||||||
| chr3:130424382
|
G | A | 86 | a0004c0003t0001g0022a0004c0003t0001g0026a0004c0003t0001g0027others(83): Show | 89 | HG00140.hp2 HG00280.hp1 HG00438.hp1 others(86): Show |
intron_variant | MODIFIER | c.5163+482G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 29/40 | chr3 | 130424382 | ||||||
| chr3:130424385
|
G | A | 1 | a0020c0023t0012g0030 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.5163+485G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 29/40 | chr3 | 130424385 | ||||||
| chr3:130424420
|
G | A | 4 | a0010c0007t0001g0140a0010c0007t0009g0162a0010c0007t0009g0166others(1): Show | 4 | HG01255.hp2 HG01346.hp2 HG01943.hp1 others(1): Show |
intron_variant | MODIFIER | c.5163+520G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 29/40 | chr3 | 130424420 | ||||||
| chr3:130424430
|
T | C | 3 | a0030c0035t0001g0217a0030c0035t0001g0218a0061c0053t0001g0175 | 3 | HG03041.hp1 HG03453.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.5163+530T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 29/40 | chr3 | 130424430 | ||||||
| chr3:130424438
|
T | C | 4 | a0006c0005t0003g0017a0006c0005t0003g0039a0006c0005t0003g0041others(1): Show | 4 | HG02257.hp1 HG02258.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.5163+538T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 29/40 | chr3 | 130424438 | ||||||
| chr3:130424616
|
G | T | 1 | a0030c0035t0001g0218 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.5163+716G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 29/40 | chr3 | 130424616 | ||||||
| chr3:130424626
|
A | G | 1 | a0044c0105t0006g0214 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.5163+726A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 29/40 | chr3 | 130424626 | ||||||
| chr3:130424755
|
G | A | 33 | a0005c0006t0004g0044a0005c0006t0004g0047a0005c0006t0004g0048others(30): Show | 35 | HG00438.hp1 HG00609.hp2 HG01106.hp1 others(32): Show |
intron_variant | MODIFIER | c.5163+855G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 29/40 | chr3 | 130424755 | ||||||
| chr3:130424773
|
A | C | 1 | a0043c0104t0002g0092 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.5163+873A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 29/40 | chr3 | 130424773 | ||||||
| chr3:130424789
|
G | A | 1 | a0001c0001t0002g0219 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.5163+889G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 29/40 | chr3 | 130424789 | ||||||
| chr3:130424895
|
G | C | 70 | a0004c0003t0001g0022a0004c0003t0001g0026a0004c0003t0001g0027others(67): Show | 73 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(70): Show |
intron_variant | MODIFIER | c.5163+995G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 29/40 | chr3 | 130424895 | ||||||
| chr3:130424990
|
G | A | 1 | a0077c0065t0001g0161 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.5163+1090G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 29/40 | chr3 | 130424990 | ||||||
| chr3:130425220
|
C | G | 4 | a0008c0010t0001g0142a0008c0026t0009g0164a0008c0026t0009g0165others(1): Show | 4 | HG01361.hp1 HG01433.hp2 HG01975.hp2 others(1): Show |
intron_variant | MODIFIER | c.5164-994C>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 29/40 | chr3 | 130425220 | ||||||
| chr3:130425354
|
C | T | 22 | a0013c0016t0001g0144a0013c0016t0010g0013a0013c0016t0010g0014others(19): Show | 22 | HG00140.hp2 HG00735.hp2 HG01109.hp1 others(19): Show |
intron_variant | MODIFIER | c.5164-860C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 29/40 | chr3 | 130425354 | ||||||
| chr3:130425443
|
C | G | 1 | a0007c0064t0006g0038 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.5164-771C>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 29/40 | chr3 | 130425443 | ||||||
| chr3:130425591
|
G | T | 3 | a0044c0105t0006g0214a0059c0073t0003g0040a0090c0052t0003g0011 | 3 | HG00735.hp2 HG02109.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.5164-623G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 29/40 | chr3 | 130425591 | ||||||
| chr3:130425606
|
A | G | 22 | a0013c0016t0001g0144a0013c0016t0010g0013a0013c0016t0010g0014others(19): Show | 22 | HG00140.hp2 HG00735.hp2 HG01109.hp1 others(19): Show |
intron_variant | MODIFIER | c.5164-608A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 29/40 | chr3 | 130425606 | ||||||
| chr3:130425676
|
G | C | 18 | a0005c0006t0004g0044a0005c0006t0004g0047a0005c0006t0004g0048others(15): Show | 19 | HG00609.hp2 HG01109.hp2 HG01981.hp2 others(16): Show |
intron_variant | MODIFIER | c.5164-538G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 29/40 | chr3 | 130425676 | ||||||
| chr3:130425681
|
A | G | 155 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(152): Show | 162 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(159): Show |
intron_variant | MODIFIER | c.5164-533A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 29/40 | chr3 | 130425681 | ||||||
| chr3:130425781
|
A | G | 14 | a0011c0012t0003g0083a0011c0012t0003g0084a0011c0012t0003g0085others(11): Show | 14 | HG02109.hp2 HG02572.hp2 HG02630.hp1 others(11): Show |
intron_variant | MODIFIER | c.5164-433A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 29/40 | chr3 | 130425781 | ||||||
| chr3:130425832
|
C | T | 70 | a0004c0003t0001g0022a0004c0003t0001g0026a0004c0003t0001g0027others(67): Show | 73 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(70): Show |
intron_variant | MODIFIER | c.5164-382C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 29/40 | chr3 | 130425832 | ||||||
| chr3:130425867
|
A | G | 3 | a0044c0105t0006g0214a0059c0073t0003g0040a0090c0052t0003g0011 | 3 | HG00735.hp2 HG02109.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.5164-347A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 29/40 | chr3 | 130425867 | ||||||
| chr3:130425958
|
A | G | 33 | a0005c0006t0004g0044a0005c0006t0004g0047a0005c0006t0004g0048others(30): Show | 35 | HG00438.hp1 HG00609.hp2 HG01106.hp1 others(32): Show |
intron_variant | MODIFIER | c.5164-256A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 29/40 | chr3 | 130425958 | ||||||
| chr3:130426140
|
G | C | 273 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(270): Show | 283 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(280): Show |
intron_variant | MODIFIER | c.5164-74G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 29/40 | chr3 | 130426140 | ||||||
| chr3:130426324
|
T | C | 1 | a0022c0024t0002g0102 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.5200-43T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 30/40 | chr3 | 130426324 | ||||||
| chr3:130426331
|
G | A | 86 | a0004c0003t0001g0022a0004c0003t0001g0026a0004c0003t0001g0027others(83): Show | 89 | HG00140.hp2 HG00280.hp1 HG00438.hp1 others(86): Show |
intron_variant | MODIFIER | c.5200-36G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 30/40 | chr3 | 130426331 | ||||||
| chr3:130426566
|
G | A | 5 | a0016c0020t0001g0171a0016c0020t0001g0272a0016c0020t0001g0273others(2): Show | 5 | HG01891.hp2 HG02615.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.5236+163G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 31/40 | chr3 | 130426566 | ||||||
| chr3:130426600
|
C | T | 1 | a0008c0010t0001g0119 | 1 | NA19091.hp2 | intron_variant | MODIFIER | c.5236+197C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 31/40 | chr3 | 130426600 | ||||||
| chr3:130426601
|
G | A | 82 | a0001c0001t0001g0186a0001c0001t0002g0010a0001c0001t0002g0189others(79): Show | 86 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(83): Show |
intron_variant | MODIFIER | c.5236+198G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 31/40 | chr3 | 130426601 | ||||||
| chr3:130426625
|
C | T | 1 | a0043c0104t0002g0092 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.5236+222C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 31/40 | chr3 | 130426625 | ||||||
| chr3:130426697
|
A | G | 70 | a0004c0003t0001g0022a0004c0003t0001g0026a0004c0003t0001g0027others(67): Show | 73 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(70): Show |
intron_variant | MODIFIER | c.5236+294A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 31/40 | chr3 | 130426697 | ||||||
| chr3:130426706
|
A | G | 1 | a0049c0093t0007g0184 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.5236+303A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 31/40 | chr3 | 130426706 | ||||||
| chr3:130426766
|
G | A | 5 | a0040c0042t0011g0074a0040c0042t0011g0090a0043c0104t0002g0092others(2): Show | 5 | HG02622.hp2 HG02809.hp1 HG03041.hp2 others(2): Show |
intron_variant | MODIFIER | c.5236+363G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 31/40 | chr3 | 130426766 | ||||||
| chr3:130426874
|
A | G | 152 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(149): Show | 159 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(156): Show |
intron_variant | MODIFIER | c.5236+471A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 31/40 | chr3 | 130426874 | ||||||
| chr3:130426876
|
C | T | 1 | a0001c0001t0002g0254 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.5236+473C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 31/40 | chr3 | 130426876 | ||||||
| chr3:130427070
|
A | G | 73 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(70): Show | 76 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(73): Show |
intron_variant | MODIFIER | c.5236+667A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 31/40 | chr3 | 130427070 | ||||||
| chr3:130427087
|
C | T | 1 | a0013c0016t0010g0013 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.5236+684C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 31/40 | chr3 | 130427087 | ||||||
| chr3:130427461
|
C | G | 1 | a0011c0012t0003g0089 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.5236+1058C>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 31/40 | chr3 | 130427461 | ||||||
| chr3:130427476
|
G | A | 37 | a0004c0003t0001g0022a0004c0003t0001g0026a0004c0003t0001g0027others(34): Show | 38 | HG00280.hp1 HG00438.hp2 HG00544.hp2 others(35): Show |
intron_variant | MODIFIER | c.5236+1073G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 31/40 | chr3 | 130427476 | ||||||
| chr3:130427483
|
C | T | 1 | a0078c0062t0003g0216 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.5236+1080C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 31/40 | chr3 | 130427483 | ||||||
| chr3:130427560
|
G | C | 13 | a0013c0016t0001g0144a0013c0016t0010g0013a0013c0016t0010g0014others(10): Show | 13 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(10): Show |
intron_variant | MODIFIER | c.5236+1157G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 31/40 | chr3 | 130427560 | ||||||
| chr3:130427598
|
C | A | 53 | a0001c0014t0002g0201a0001c0014t0002g0250a0002c0002t0001g0004others(50): Show | 56 | HG00408.hp2 HG00609.hp1 HG00621.hp1 others(53): Show |
intron_variant | MODIFIER | c.5236+1195C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 31/40 | chr3 | 130427598 | ||||||
| chr3:130427887
|
T | C | 216 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(213): Show | 226 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(223): Show |
intron_variant | MODIFIER | c.5236+1484T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 31/40 | chr3 | 130427887 | ||||||
| chr3:130427890
|
T | C | 277 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(274): Show | 287 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(284): Show |
intron_variant | MODIFIER | c.5236+1487T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 31/40 | chr3 | 130427890 | ||||||
| chr3:130428060
|
G | A | 6 | a0038c0043t0001g0183a0038c0043t0003g0079a0052c0101t0003g0061others(3): Show | 6 | HG01109.hp1 HG01243.hp1 HG02647.hp2 others(3): Show |
intron_variant | MODIFIER | c.5237-1513G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 31/40 | chr3 | 130428060 | ||||||
| chr3:130428119
|
G | C | 123 | a0001c0014t0002g0201a0001c0014t0002g0250a0002c0002t0001g0004others(120): Show | 126 | HG00140.hp2 HG00408.hp2 HG00609.hp1 others(123): Show |
intron_variant | MODIFIER | c.5237-1454G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 31/40 | chr3 | 130428119 | ||||||
| chr3:130428488
|
T | G | 78 | a0001c0014t0002g0201a0001c0014t0002g0250a0002c0002t0001g0004others(75): Show | 81 | HG00408.hp2 HG00609.hp1 HG00621.hp1 others(78): Show |
intron_variant | MODIFIER | c.5237-1085T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 31/40 | chr3 | 130428488 | ||||||
| chr3:130428506
|
A | G | 1 | a0089c0102t0005g0056 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.5237-1067A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 31/40 | chr3 | 130428506 | ||||||
| chr3:130428544
|
G | A | 78 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(75): Show | 82 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(79): Show |
intron_variant | MODIFIER | c.5237-1029G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 31/40 | chr3 | 130428544 | ||||||
| chr3:130428552
|
G | T | 40 | a0003c0004t0001g0018a0003c0004t0001g0019a0003c0004t0001g0020others(37): Show | 40 | HG00140.hp2 HG01069.hp1 HG01169.hp2 others(37): Show |
intron_variant | MODIFIER | c.5237-1021G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 31/40 | chr3 | 130428552 | ||||||
| chr3:130428565
|
T | C | 121 | a0001c0014t0002g0201a0001c0014t0002g0250a0002c0002t0001g0004others(118): Show | 124 | HG00140.hp2 HG00408.hp2 HG00609.hp1 others(121): Show |
intron_variant | MODIFIER | c.5237-1008T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 31/40 | chr3 | 130428565 | ||||||
| chr3:130428575
|
G | A | 40 | a0003c0004t0001g0018a0003c0004t0001g0019a0003c0004t0001g0020others(37): Show | 40 | HG00140.hp2 HG01069.hp1 HG01169.hp2 others(37): Show |
intron_variant | MODIFIER | c.5237-998G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 31/40 | chr3 | 130428575 | ||||||
| chr3:130428829
|
A | C | 17 | a0005c0006t0004g0044a0005c0006t0004g0047a0005c0006t0004g0048others(14): Show | 18 | HG00609.hp2 HG01981.hp2 HG02056.hp2 others(15): Show |
intron_variant | MODIFIER | c.5237-744A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 31/40 | chr3 | 130428829 | ||||||
| chr3:130428855
|
G | T | 2 | a0037c0032t0005g0057a0072c0072t0001g0182 | 2 | HG02280.hp2 HG02622.hp1 |
intron_variant | MODIFIER | c.5237-718G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 31/40 | chr3 | 130428855 | ||||||
| chr3:130428969
|
A | G | 70 | a0001c0014t0002g0201a0001c0014t0002g0250a0002c0002t0001g0004others(67): Show | 73 | HG00408.hp2 HG00609.hp1 HG00621.hp1 others(70): Show |
intron_variant | MODIFIER | c.5237-604A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 31/40 | chr3 | 130428969 | ||||||
| chr3:130429070
|
C | G | 27 | a0003c0004t0001g0018a0003c0004t0001g0019a0003c0004t0001g0020others(24): Show | 27 | HG01069.hp1 HG01175.hp2 HG01346.hp1 others(24): Show |
intron_variant | MODIFIER | c.5237-503C>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 31/40 | chr3 | 130429070 | ||||||
| chr3:130429123
|
A | G | 2 | a0012c0011t0002g0203a0042c0103t0002g0091 | 2 | HG02083.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.5237-450A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 31/40 | chr3 | 130429123 | ||||||
| chr3:130429182
|
C | A | 10 | a0003c0004t0011g0073a0030c0035t0001g0217a0030c0035t0001g0218others(7): Show | 10 | HG00735.hp2 HG02109.hp1 HG02572.hp1 others(7): Show |
intron_variant | MODIFIER | c.5237-391C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 31/40 | chr3 | 130429182 | ||||||
| chr3:130429219
|
G | A | 2 | a0001c0001t0002g0265a0091c0078t0002g0276 | 2 | HG01081.hp2 HG01981.hp1 |
intron_variant | MODIFIER | c.5237-354G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 31/40 | chr3 | 130429219 | ||||||
| chr3:130429279
|
C | T | 4 | a0039c0031t0006g0067a0039c0031t0006g0068a0041c0033t0008g0173others(1): Show | 4 | HG01069.hp1 HG01175.hp2 HG01346.hp1 others(1): Show |
intron_variant | MODIFIER | c.5237-294C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 31/40 | chr3 | 130429279 | ||||||
| chr3:130429284
|
G | A | 1 | a0084c0049t0001g0126 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.5237-289G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 31/40 | chr3 | 130429284 | ||||||
| chr3:130429444
|
C | G | 1 | a0043c0104t0002g0092 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.5237-129C>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 31/40 | chr3 | 130429444 | ||||||
| chr3:130429497
|
T | G | 71 | a0001c0014t0002g0201a0001c0014t0002g0250a0002c0002t0001g0004others(68): Show | 74 | HG00408.hp2 HG00609.hp1 HG00621.hp1 others(71): Show |
intron_variant | MODIFIER | c.5237-76T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 31/40 | chr3 | 130429497 | ||||||
| chr3:130429601
|
T | C | 1 | a0069c0056t0001g0114 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.5248+17T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 32/40 | chr3 | 130429601 | ||||||
| chr3:130429666
|
C | T | 79 | a0001c0001t0002g0256a0001c0014t0002g0255a0004c0003t0001g0022others(76): Show | 81 | HG00140.hp2 HG00280.hp1 HG00438.hp1 others(78): Show |
intron_variant | MODIFIER | c.5248+82C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 32/40 | chr3 | 130429666 | ||||||
| chr3:130429726
|
G | A | 7 | a0031c0037t0004g0037a0031c0037t0013g0035a0038c0043t0001g0183others(4): Show | 7 | HG01243.hp1 HG02572.hp1 HG02647.hp2 others(4): Show |
intron_variant | MODIFIER | c.5248+142G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 32/40 | chr3 | 130429726 | ||||||
| chr3:130429822
|
C | G | 1 | a0037c0032t0001g0181 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.5248+238C>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 32/40 | chr3 | 130429822 | ||||||
| chr3:130429829
|
T | C | 3 | a0030c0035t0001g0217a0030c0035t0001g0218a0077c0065t0001g0161 | 3 | HG03041.hp1 HG03453.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.5248+245T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 32/40 | chr3 | 130429829 | ||||||
| chr3:130429916
|
A | G | 2 | a0001c0001t0002g0237a0001c0001t0003g0086 | 2 | HG01243.hp2 HG02970.hp2 |
intron_variant | MODIFIER | c.5248+332A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 32/40 | chr3 | 130429916 | ||||||
| chr3:130429958
|
C | G | 2 | a0033c0029t0001g0117a0033c0029t0001g0120 | 2 | HG02258.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.5248+374C>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 32/40 | chr3 | 130429958 | ||||||
| chr3:130430016
|
A | G | 1 | a0059c0073t0003g0040 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.5248+432A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 32/40 | chr3 | 130430016 | ||||||
| chr3:130430054
|
C | T | 2 | a0031c0037t0004g0037a0031c0037t0013g0035 | 2 | HG03209.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.5248+470C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 32/40 | chr3 | 130430054 | ||||||
| chr3:130430070
|
C | T | 78 | a0001c0001t0002g0256a0001c0014t0002g0255a0004c0003t0001g0022others(75): Show | 80 | HG00140.hp2 HG00280.hp1 HG00438.hp1 others(77): Show |
intron_variant | MODIFIER | c.5248+486C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 32/40 | chr3 | 130430070 | ||||||
| chr3:130430221
|
A | G | 26 | a0005c0006t0004g0044a0005c0006t0004g0047a0005c0006t0004g0048others(23): Show | 27 | HG00609.hp2 HG01109.hp1 HG01891.hp2 others(24): Show |
intron_variant | MODIFIER | c.5248+637A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 32/40 | chr3 | 130430221 | ||||||
| chr3:130430387
|
T | C | 6 | a0031c0037t0004g0037a0031c0037t0013g0035a0038c0043t0001g0183others(3): Show | 6 | HG01243.hp1 HG02647.hp2 HG03098.hp2 others(3): Show |
intron_variant | MODIFIER | c.5248+803T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 32/40 | chr3 | 130430387 | ||||||
| chr3:130430412
|
G | C | 1 | a0007c0008t0003g0070 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.5248+828G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 32/40 | chr3 | 130430412 | ||||||
| chr3:130430471
|
G | C | 1 | a0008c0010t0001g0169 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.5248+887G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 32/40 | chr3 | 130430471 | ||||||
| chr3:130430489
|
T | C | 64 | a0001c0001t0002g0256a0001c0014t0002g0255a0004c0003t0001g0022others(61): Show | 66 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(63): Show |
intron_variant | MODIFIER | c.5248+905T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 32/40 | chr3 | 130430489 | ||||||
| chr3:130430678
|
T | C | 6 | a0031c0037t0004g0037a0031c0037t0013g0035a0038c0043t0001g0183others(3): Show | 6 | HG01243.hp1 HG02647.hp2 HG03098.hp2 others(3): Show |
intron_variant | MODIFIER | c.5249-787T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 32/40 | chr3 | 130430678 | ||||||
| chr3:130430680
|
T | C | 2 | a0008c0010t0001g0119a0008c0010t0001g0149 | 2 | NA18984.hp1 NA19091.hp2 |
intron_variant | MODIFIER | c.5249-785T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 32/40 | chr3 | 130430680 | ||||||
| chr3:130430806
|
T | A | 6 | a0031c0037t0004g0037a0031c0037t0013g0035a0038c0043t0001g0183others(3): Show | 6 | HG01243.hp1 HG02647.hp2 HG03098.hp2 others(3): Show |
intron_variant | MODIFIER | c.5249-659T>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 32/40 | chr3 | 130430806 | ||||||
| chr3:130430893
|
G | A | 7 | a0016c0020t0001g0171a0016c0020t0001g0272a0016c0020t0001g0273others(4): Show | 7 | HG01891.hp2 HG02280.hp2 HG02615.hp1 others(4): Show |
intron_variant | MODIFIER | c.5249-572G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 32/40 | chr3 | 130430893 | ||||||
| chr3:130430939
|
A | C | 61 | a0001c0014t0002g0201a0001c0014t0002g0250a0002c0002t0001g0004others(58): Show | 64 | HG00408.hp2 HG00609.hp1 HG00621.hp1 others(61): Show |
intron_variant | MODIFIER | c.5249-526A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 32/40 | chr3 | 130430939 | ||||||
| chr3:130431001
|
C | A | 134 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(131): Show | 141 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(138): Show |
intron_variant | MODIFIER | c.5249-464C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 32/40 | chr3 | 130431001 | ||||||
| chr3:130431069
|
T | A | 6 | a0031c0037t0004g0037a0031c0037t0013g0035a0038c0043t0001g0183others(3): Show | 6 | HG01243.hp1 HG02647.hp2 HG03098.hp2 others(3): Show |
intron_variant | MODIFIER | c.5249-396T>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 32/40 | chr3 | 130431069 | ||||||
| chr3:130431076
|
T | G | 9 | a0011c0012t0003g0089a0016c0020t0001g0171a0016c0020t0001g0272others(6): Show | 9 | HG01891.hp2 HG02280.hp2 HG02615.hp1 others(6): Show |
intron_variant | MODIFIER | c.5249-389T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 32/40 | chr3 | 130431076 | ||||||
| chr3:130431092
|
T | C | 6 | a0031c0037t0004g0037a0031c0037t0013g0035a0038c0043t0001g0183others(3): Show | 6 | HG01243.hp1 HG02647.hp2 HG03098.hp2 others(3): Show |
intron_variant | MODIFIER | c.5249-373T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 32/40 | chr3 | 130431092 | ||||||
| chr3:130431251
|
A | G | 6 | a0031c0037t0004g0037a0031c0037t0013g0035a0038c0043t0001g0183others(3): Show | 6 | HG01243.hp1 HG02647.hp2 HG03098.hp2 others(3): Show |
intron_variant | MODIFIER | c.5249-214A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 32/40 | chr3 | 130431251 | ||||||
| chr3:130431256
|
C | T | 6 | a0031c0037t0004g0037a0031c0037t0013g0035a0038c0043t0001g0183others(3): Show | 6 | HG01243.hp1 HG02647.hp2 HG03098.hp2 others(3): Show |
intron_variant | MODIFIER | c.5249-209C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 32/40 | chr3 | 130431256 | ||||||
| chr3:130431964
|
T | C | 5 | a0001c0001t0002g0243a0001c0001t0002g0244a0001c0001t0002g0245others(2): Show | 5 | HG02165.hp1 NA18952.hp2 NA19003.hp2 others(2): Show |
intron_variant | MODIFIER | c.5733+15T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130431964 | ||||||
| chr3:130432161
|
C | T | 1 | a0003c0025t0001g0124 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.5733+212C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130432161 | ||||||
| chr3:130432227
|
G | T | 2 | a0033c0029t0001g0117a0033c0029t0001g0120 | 2 | HG02258.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.5733+278G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130432227 | ||||||
| chr3:130432232
|
C | G | 1 | a0061c0053t0001g0175 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.5733+283C>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130432232 | ||||||
| chr3:130432244
|
T | C | 6 | a0031c0037t0004g0037a0031c0037t0013g0035a0038c0043t0001g0183others(3): Show | 6 | HG01243.hp1 HG02647.hp2 HG03098.hp2 others(3): Show |
intron_variant | MODIFIER | c.5733+295T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130432244 | ||||||
| chr3:130432276
|
T | C | 2 | a0025c0041t0001g0177a0025c0041t0001g0178 | 2 | HG02818.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.5733+327T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130432276 | ||||||
| chr3:130432280
|
C | T | 1 | a0003c0025t0001g0124 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.5733+331C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130432280 | ||||||
| chr3:130432330
|
G | T | 62 | a0001c0001t0002g0256a0001c0014t0002g0255a0004c0003t0001g0022others(59): Show | 64 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(61): Show |
intron_variant | MODIFIER | c.5733+381G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130432330 | ||||||
| chr3:130432347
|
G | C | 2 | a0040c0042t0011g0074a0040c0042t0011g0090 | 2 | HG02809.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.5733+398G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130432347 | ||||||
| chr3:130432356
|
C | G | 1 | a0019c0017t0003g0278 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.5733+407C>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130432356 | ||||||
| chr3:130432365
|
C | T | 4 | a0030c0035t0001g0217a0030c0035t0001g0218a0044c0105t0006g0214others(1): Show | 4 | HG00735.hp2 HG03041.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.5733+416C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130432365 | ||||||
| chr3:130432419
|
C | T | 111 | a0001c0001t0001g0106a0001c0001t0002g0010a0001c0001t0002g0189others(108): Show | 115 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(112): Show |
intron_variant | MODIFIER | c.5733+470C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130432419 | ||||||
| chr3:130432421
|
C | T | 1 | a0014c0013t0001g0115 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.5733+472C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130432421 | ||||||
| chr3:130432422
|
G | A | 1 | a0015c0015t0002g0226 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.5733+473G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130432422 | ||||||
| chr3:130432462
|
G | A | 17 | a0016c0020t0001g0171a0016c0020t0001g0272a0016c0020t0001g0273others(14): Show | 17 | HG01109.hp2 HG01243.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.5733+513G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130432462 | ||||||
| chr3:130432486
|
G | A | 70 | a0001c0001t0001g0106a0001c0001t0002g0010a0001c0001t0002g0189others(67): Show | 74 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(71): Show |
intron_variant | MODIFIER | c.5733+537G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130432486 | ||||||
| chr3:130432547
|
C | CA | 6 | a0011c0012t0002g0204a0011c0012t0003g0089a0025c0041t0001g0177others(3): Show | 6 | HG01069.hp1 HG02818.hp1 HG03579.hp1 others(3): Show |
intron_variant | MODIFIER | c.5733+614dupA | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | INFO_REALIGN_3_PRIME | chr3 | 130432547 | |||||
| chr3:130432547
|
CA | C | 104 | a0001c0001t0001g0106a0001c0001t0002g0010a0001c0001t0002g0189others(101): Show | 107 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(104): Show |
intron_variant | MODIFIER | c.5733+614delA | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | INFO_REALIGN_3_PRIME | chr3 | 130432547 | |||||
| chr3:130432633
|
C | T | 71 | a0001c0001t0001g0106a0001c0001t0002g0010a0001c0001t0002g0189others(68): Show | 75 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(72): Show |
intron_variant | MODIFIER | c.5733+684C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130432633 | ||||||
| chr3:130432654
|
G | T | 153 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(150): Show | 160 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(157): Show |
intron_variant | MODIFIER | c.5733+705G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130432654 | ||||||
| chr3:130432759
|
G | C | 1 | a0001c0001t0002g0220 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.5733+810G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130432759 | ||||||
| chr3:130432797
|
G | C | 11 | a0016c0020t0001g0171a0016c0020t0001g0272a0016c0020t0001g0273others(8): Show | 11 | HG01109.hp2 HG01891.hp2 HG02280.hp2 others(8): Show |
intron_variant | MODIFIER | c.5733+848G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130432797 | ||||||
| chr3:130432877
|
C | T | 2 | a0025c0041t0001g0177a0025c0041t0001g0178 | 2 | HG02818.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.5733+928C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130432877 | ||||||
| chr3:130432915
|
C | A | 1 | a0005c0006t0004g0047 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.5733+966C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130432915 | ||||||
| chr3:130432951
|
G | C | 11 | a0016c0020t0001g0171a0016c0020t0001g0272a0016c0020t0001g0273others(8): Show | 11 | HG01109.hp2 HG01891.hp2 HG02280.hp2 others(8): Show |
intron_variant | MODIFIER | c.5733+1002G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130432951 | ||||||
| chr3:130432989
|
G | A | 62 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(59): Show | 65 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(62): Show |
intron_variant | MODIFIER | c.5733+1040G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130432989 | ||||||
| chr3:130433083
|
A | T | 11 | a0016c0020t0001g0171a0016c0020t0001g0272a0016c0020t0001g0273others(8): Show | 11 | HG01109.hp2 HG01891.hp2 HG02280.hp2 others(8): Show |
intron_variant | MODIFIER | c.5733+1134A>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130433083 | ||||||
| chr3:130433123
|
G | A | 136 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(133): Show | 143 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(140): Show |
intron_variant | MODIFIER | c.5733+1174G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130433123 | ||||||
| chr3:130433454
|
T | G | 11 | a0016c0020t0001g0171a0016c0020t0001g0272a0016c0020t0001g0273others(8): Show | 11 | HG01109.hp2 HG01891.hp2 HG02280.hp2 others(8): Show |
intron_variant | MODIFIER | c.5733+1505T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130433454 | ||||||
| chr3:130433573
|
C | T | 1 | a0061c0053t0001g0175 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.5733+1624C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130433573 | ||||||
| chr3:130433716
|
A | C | 4 | a0003c0004t0001g0020a0003c0004t0011g0073a0003c0079t0001g0107others(1): Show | 4 | HG01891.hp1 HG02922.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.5733+1767A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130433716 | ||||||
| chr3:130433717
|
C | A | 4 | a0003c0004t0001g0020a0003c0004t0011g0073a0003c0079t0001g0107others(1): Show | 4 | HG01891.hp1 HG02922.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.5733+1768C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130433717 | ||||||
| chr3:130433812
|
G | C | 1 | a0021c0096t0001g0109 | 1 | NA18984.hp2 | intron_variant | MODIFIER | c.5733+1863G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130433812 | ||||||
| chr3:130433840
|
C | A | 19 | a0005c0006t0004g0044a0005c0006t0004g0047a0005c0006t0004g0048others(16): Show | 20 | HG00609.hp2 HG01109.hp1 HG01981.hp2 others(17): Show |
intron_variant | MODIFIER | c.5733+1891C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130433840 | ||||||
| chr3:130433962
|
TA | T | 6 | a0007c0064t0006g0038a0029c0087t0006g0076a0030c0035t0001g0217others(3): Show | 6 | HG00735.hp2 HG01123.hp1 HG03041.hp1 others(3): Show |
intron_variant | MODIFIER | c.5733+2024delA | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | INFO_REALIGN_3_PRIME | chr3 | 130433962 | |||||
| chr3:130433980
|
C | CA | 63 | a0001c0001t0002g0256a0001c0014t0002g0255a0004c0003t0001g0022others(60): Show | 65 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(62): Show |
intron_variant | MODIFIER | c.5733+2039dupA | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | INFO_REALIGN_3_PRIME | chr3 | 130433980 | |||||
| chr3:130434083
|
C | T | 7 | a0007c0064t0006g0038a0029c0087t0006g0076a0030c0035t0001g0217others(4): Show | 7 | HG00735.hp2 HG01123.hp1 HG03041.hp1 others(4): Show |
intron_variant | MODIFIER | c.5733+2134C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130434083 | ||||||
| chr3:130434183
|
C | T | 3 | a0011c0012t0003g0089a0043c0104t0002g0092a0062c0054t0001g0160 | 3 | HG03579.hp1 HG03834.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.5733+2234C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130434183 | ||||||
| chr3:130434184
|
G | A | 92 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(89): Show | 96 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(93): Show |
intron_variant | MODIFIER | c.5733+2235G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130434184 | ||||||
| chr3:130434248
|
C | G | 6 | a0004c0003t0001g0022a0004c0003t0001g0026a0004c0003t0001g0027others(3): Show | 6 | HG00438.hp2 HG02027.hp2 HG02056.hp1 others(3): Show |
intron_variant | MODIFIER | c.5733+2299C>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130434248 | ||||||
| chr3:130434326
|
C | T | 1 | a0007c0008t0003g0070 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.5733+2377C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130434326 | ||||||
| chr3:130434622
|
C | T | 1 | a0059c0073t0003g0040 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.5733+2673C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130434622 | ||||||
| chr3:130434745
|
G | A | 1 | a0043c0104t0002g0092 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.5733+2796G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130434745 | ||||||
| chr3:130434876
|
C | T | 2 | a0025c0041t0001g0177a0025c0041t0001g0178 | 2 | HG02818.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.5733+2927C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130434876 | ||||||
| chr3:130435063
|
A | G | 11 | a0016c0020t0001g0171a0016c0020t0001g0272a0016c0020t0001g0273others(8): Show | 11 | HG01109.hp2 HG01891.hp2 HG02280.hp2 others(8): Show |
intron_variant | MODIFIER | c.5733+3114A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130435063 | ||||||
| chr3:130435087
|
T | G | 4 | a0038c0043t0001g0183a0038c0043t0003g0079a0052c0101t0003g0061others(1): Show | 4 | HG01243.hp1 HG02647.hp2 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.5733+3138T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130435087 | ||||||
| chr3:130435131
|
G | T | 1 | a0002c0047t0001g0111 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.5733+3182G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130435131 | ||||||
| chr3:130435161
|
G | A | 5 | a0003c0004t0001g0020a0003c0004t0001g0155a0003c0079t0001g0107others(2): Show | 5 | HG01891.hp1 HG02896.hp1 HG02922.hp2 others(2): Show |
intron_variant | MODIFIER | c.5733+3212G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130435161 | ||||||
| chr3:130435233
|
G | A | 2 | a0026c0038t0002g0261a0026c0038t0002g0263 | 2 | HG02300.hp1 HG03490.hp2 |
intron_variant | MODIFIER | c.5733+3284G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130435233 | ||||||
| chr3:130435442
|
T | C | 1 | a0001c0001t0001g0186 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.5733+3493T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130435442 | ||||||
| chr3:130435637
|
A | G | 60 | a0001c0014t0002g0201a0001c0014t0002g0250a0002c0002t0001g0004others(57): Show | 63 | HG00408.hp2 HG00609.hp1 HG00621.hp1 others(60): Show |
intron_variant | MODIFIER | c.5733+3688A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130435637 | ||||||
| chr3:130435882
|
C | CAG | 221 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(218): Show | 230 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(227): Show |
intron_variant | MODIFIER | c.5734-3638_5734-363 others(6): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | INFO_REALIGN_3_PRIME | chr3 | 130435882 | |||||
| chr3:130435882
|
C | G | 1 | a0002c0002t0001g0130 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.5734-3640C>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130435882 | ||||||
| chr3:130436010
|
T | C | 11 | a0007c0008t0003g0001a0007c0008t0003g0062a0007c0008t0003g0063others(8): Show | 12 | HG00733.hp1 HG01256.hp1 HG01257.hp1 others(9): Show |
intron_variant | MODIFIER | c.5734-3512T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130436010 | ||||||
| chr3:130436020
|
A | G | 159 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(156): Show | 165 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(162): Show |
intron_variant | MODIFIER | c.5734-3502A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130436020 | ||||||
| chr3:130436049
|
C | T | 1 | a0001c0001t0002g0219 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.5734-3473C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130436049 | ||||||
| chr3:130436092
|
T | A | 3 | a0030c0035t0001g0217a0030c0035t0001g0218a0077c0065t0001g0161 | 3 | HG03041.hp1 HG03453.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.5734-3430T>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130436092 | ||||||
| chr3:130436130
|
A | G | 62 | a0001c0014t0002g0201a0001c0014t0002g0250a0002c0002t0001g0004others(59): Show | 65 | HG00408.hp2 HG00609.hp1 HG00621.hp1 others(62): Show |
intron_variant | MODIFIER | c.5734-3392A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130436130 | ||||||
| chr3:130436387
|
A | G | 5 | a0009c0009t0002g0094a0009c0009t0002g0095a0009c0009t0002g0096others(2): Show | 5 | HG01123.hp2 HG01257.hp2 NA18992.hp1 others(2): Show |
intron_variant | MODIFIER | c.5734-3135A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130436387 | ||||||
| chr3:130436438
|
G | C | 61 | a0001c0014t0002g0250a0002c0002t0001g0004a0002c0002t0001g0103others(58): Show | 64 | HG00408.hp2 HG00609.hp1 HG00621.hp1 others(61): Show |
intron_variant | MODIFIER | c.5734-3084G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130436438 | ||||||
| chr3:130436461
|
A | G | 2 | a0012c0011t0002g0205a0012c0011t0002g0206 | 2 | HG00544.hp2 NA19080.hp2 |
intron_variant | MODIFIER | c.5734-3061A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130436461 | ||||||
| chr3:130436653
|
C | A | 14 | a0011c0012t0002g0195a0013c0016t0001g0144a0013c0016t0010g0013others(11): Show | 14 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(11): Show |
intron_variant | MODIFIER | c.5734-2869C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130436653 | ||||||
| chr3:130436655
|
T | A | 14 | a0011c0012t0002g0195a0013c0016t0001g0144a0013c0016t0010g0013others(11): Show | 14 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(11): Show |
intron_variant | MODIFIER | c.5734-2867T>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130436655 | ||||||
| chr3:130436657
|
GTTGATCT others(4): Show |
G | 14 | a0011c0012t0002g0195a0013c0016t0001g0144a0013c0016t0010g0013others(11): Show | 14 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(11): Show |
intron_variant | MODIFIER | c.5734-2862_5734-285 others(15): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | INFO_REALIGN_3_PRIME | chr3 | 130436657 | |||||
| chr3:130436683
|
A | G | 1 | a0013c0016t0010g0016 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.5734-2839A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130436683 | ||||||
| chr3:130436730
|
T | C | 1 | a0059c0073t0003g0040 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.5734-2792T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130436730 | ||||||
| chr3:130436816
|
A | G | 1 | a0013c0075t0016g0012 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.5734-2706A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130436816 | ||||||
| chr3:130436862
|
C | A | 1 | a0059c0073t0003g0040 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.5734-2660C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130436862 | ||||||
| chr3:130436866
|
C | G | 14 | a0011c0012t0002g0195a0013c0016t0001g0144a0013c0016t0010g0013others(11): Show | 14 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(11): Show |
intron_variant | MODIFIER | c.5734-2656C>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130436866 | ||||||
| chr3:130436983
|
G | T | 14 | a0011c0012t0002g0195a0013c0016t0001g0144a0013c0016t0010g0013others(11): Show | 14 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(11): Show |
intron_variant | MODIFIER | c.5734-2539G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130436983 | ||||||
| chr3:130437029
|
A | G | 1 | a0007c0064t0006g0038 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.5734-2493A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130437029 | ||||||
| chr3:130437237
|
G | C | 1 | a0001c0001t0002g0220 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.5734-2285G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130437237 | ||||||
| chr3:130437425
|
A | G | 1 | a0064c0061t0002g0267 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.5734-2097A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130437425 | ||||||
| chr3:130437747
|
T | G | 1 | a0024c0022t0001g0152 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.5734-1775T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130437747 | ||||||
| chr3:130437905
|
C | G | 61 | a0001c0014t0002g0250a0002c0002t0001g0004a0002c0002t0001g0103others(58): Show | 64 | HG00408.hp2 HG00609.hp1 HG00621.hp1 others(61): Show |
intron_variant | MODIFIER | c.5734-1617C>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130437905 | ||||||
| chr3:130437932
|
T | C | 1 | a0005c0006t0004g0049 | 1 | NA18992.hp2 | intron_variant | MODIFIER | c.5734-1590T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130437932 | ||||||
| chr3:130437974
|
G | C | 7 | a0011c0012t0003g0083a0011c0012t0003g0084a0011c0012t0003g0085others(4): Show | 7 | HG02572.hp2 HG02717.hp2 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.5734-1548G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130437974 | ||||||
| chr3:130437979
|
G | T | 1 | a0024c0022t0001g0152 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.5734-1543G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130437979 | ||||||
| chr3:130438030
|
G | A | 1 | a0029c0087t0006g0076 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.5734-1492G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130438030 | ||||||
| chr3:130438056
|
T | C | 1 | a0059c0073t0003g0040 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.5734-1466T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130438056 | ||||||
| chr3:130438100
|
C | T | 1 | a0002c0002t0002g0227 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.5734-1422C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130438100 | ||||||
| chr3:130438104
|
T | C | 1 | a0051c0085t0003g0082 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.5734-1418T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130438104 | ||||||
| chr3:130438153
|
A | G | 136 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(133): Show | 142 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(139): Show |
intron_variant | MODIFIER | c.5734-1369A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130438153 | ||||||
| chr3:130438155
|
A | G | 61 | a0001c0014t0002g0250a0002c0002t0001g0004a0002c0002t0001g0103others(58): Show | 64 | HG00408.hp2 HG00609.hp1 HG00621.hp1 others(61): Show |
intron_variant | MODIFIER | c.5734-1367A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130438155 | ||||||
| chr3:130438260
|
A | G | 61 | a0001c0014t0002g0250a0002c0002t0001g0004a0002c0002t0001g0103others(58): Show | 64 | HG00408.hp2 HG00609.hp1 HG00621.hp1 others(61): Show |
intron_variant | MODIFIER | c.5734-1262A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130438260 | ||||||
| chr3:130438386
|
T | C | 8 | a0019c0017t0001g0153a0019c0017t0003g0277a0019c0017t0003g0278others(5): Show | 9 | HG00639.hp1 HG00738.hp2 HG01167.hp1 others(6): Show |
intron_variant | MODIFIER | c.5734-1136T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130438386 | ||||||
| chr3:130438389
|
ATGAATGA others(1): Show |
A | 16 | a0011c0012t0002g0195a0013c0016t0001g0144a0013c0016t0010g0013others(13): Show | 16 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(13): Show |
intron_variant | MODIFIER | c.5734-1117_5734-111 others(12): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | INFO_REALIGN_3_PRIME | chr3 | 130438389 | |||||
| chr3:130438405
|
G | A | 61 | a0001c0014t0002g0250a0002c0002t0001g0004a0002c0002t0001g0103others(58): Show | 64 | HG00408.hp2 HG00609.hp1 HG00621.hp1 others(61): Show |
intron_variant | MODIFIER | c.5734-1117G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130438405 | ||||||
| chr3:130438464
|
TG | T | 3 | a0015c0015t0001g0005a0015c0015t0001g0125a0015c0015t0009g0168 | 4 | HG01070.hp2 HG01074.hp1 HG01192.hp1 others(1): Show |
intron_variant | MODIFIER | c.5734-1056delG | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | INFO_REALIGN_3_PRIME | chr3 | 130438464 | |||||
| chr3:130438507
|
A | G | 5 | a0003c0004t0001g0018a0003c0004t0001g0019a0003c0004t0001g0093others(2): Show | 5 | HG01975.hp1 HG01993.hp2 HG02735.hp1 others(2): Show |
intron_variant | MODIFIER | c.5734-1015A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130438507 | ||||||
| chr3:130438676
|
T | C | 2 | a0011c0012t0003g0089a0062c0054t0001g0160 | 2 | HG03579.hp1 HG03834.hp1 |
intron_variant | MODIFIER | c.5734-846T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130438676 | ||||||
| chr3:130438683
|
A | G | 229 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(226): Show | 238 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(235): Show |
intron_variant | MODIFIER | c.5734-839A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130438683 | ||||||
| chr3:130438752
|
G | A | 2 | a0012c0011t0002g0208a0012c0011t0002g0209 | 2 | HG00597.hp1 NA19005.hp2 |
intron_variant | MODIFIER | c.5734-770G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130438752 | ||||||
| chr3:130439223
|
GC | G | 25 | a0005c0006t0004g0044a0005c0006t0004g0047a0005c0006t0004g0048others(22): Show | 26 | HG00609.hp2 HG01109.hp1 HG01243.hp1 others(23): Show |
intron_variant | MODIFIER | c.5734-295delC | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | INFO_REALIGN_3_PRIME | chr3 | 130439223 | |||||
| chr3:130439339
|
T | TTG | 6 | a0031c0037t0004g0037a0031c0037t0013g0035a0044c0105t0006g0214others(3): Show | 6 | HG00735.hp2 HG01243.hp1 HG02647.hp2 others(3): Show |
intron_variant | MODIFIER | c.5734-144_5734-143d others(4): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | INFO_REALIGN_3_PRIME | chr3 | 130439339 | |||||
| chr3:130439339
|
T | TTGTG | 5 | a0003c0004t0001g0147a0009c0009t0002g0281a0030c0035t0001g0217others(2): Show | 5 | HG02129.hp1 HG03041.hp1 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.5734-146_5734-143d others(6): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | INFO_REALIGN_3_PRIME | chr3 | 130439339 | |||||
| chr3:130439339
|
T | TTGTGTGT others(1): Show |
3 | a0013c0016t0010g0014a0013c0016t0010g0015a0014c0013t0001g0143 | 3 | HG00140.hp2 HG01361.hp2 NA18989.hp2 |
intron_variant | MODIFIER | c.5734-150_5734-143d others(10): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | INFO_REALIGN_3_PRIME | chr3 | 130439339 | |||||
| chr3:130439339
|
T | TTGTGTGT others(3): Show |
4 | a0011c0012t0002g0195a0013c0016t0010g0013a0013c0016t0010g0016others(1): Show | 4 | HG01169.hp2 HG02738.hp1 HG03017.hp2 others(1): Show |
intron_variant | MODIFIER | c.5734-152_5734-143d others(12): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | INFO_REALIGN_3_PRIME | chr3 | 130439339 | |||||
| chr3:130439339
|
T | TTGTGTGT others(5): Show |
2 | a0014c0013t0001g0115a0014c0013t0001g0148 | 2 | NA18995.hp1 NA19083.hp1 |
intron_variant | MODIFIER | c.5734-154_5734-143d others(14): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | INFO_REALIGN_3_PRIME | chr3 | 130439339 | |||||
| chr3:130439339
|
T | TTGTGTGT others(7): Show |
4 | a0013c0016t0001g0144a0014c0013t0001g0098a0014c0013t0001g0145others(1): Show | 4 | NA18982.hp1 NA19005.hp1 NA19062.hp1 others(1): Show |
intron_variant | MODIFIER | c.5734-156_5734-143d others(16): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | INFO_REALIGN_3_PRIME | chr3 | 130439339 | |||||
| chr3:130439339
|
TTG | T | 24 | a0003c0004t0001g0018a0003c0004t0001g0019a0003c0004t0001g0020others(21): Show | 25 | HG01106.hp1 HG01109.hp1 HG01109.hp2 others(22): Show |
intron_variant | MODIFIER | c.5734-144_5734-143d others(4): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | INFO_REALIGN_3_PRIME | chr3 | 130439339 | |||||
| chr3:130439339
|
TTGTG | T | 81 | a0001c0001t0002g0224a0001c0001t0002g0251a0001c0001t0002g0256others(78): Show | 82 | HG00280.hp1 HG00280.hp2 HG00438.hp1 others(79): Show |
intron_variant | MODIFIER | c.5734-146_5734-143d others(6): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | INFO_REALIGN_3_PRIME | chr3 | 130439339 | |||||
| chr3:130439339
|
TTGTGTG | T | 89 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(86): Show | 94 | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.5734-148_5734-143d others(8): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | INFO_REALIGN_3_PRIME | chr3 | 130439339 | |||||
| chr3:130439339
|
TTGTGTGT others(1): Show |
T | 5 | a0001c0001t0002g0222a0001c0001t0002g0260a0002c0002t0001g0172others(2): Show | 5 | HG00609.hp1 HG01106.hp2 HG02300.hp2 others(2): Show |
intron_variant | MODIFIER | c.5734-150_5734-143d others(10): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | INFO_REALIGN_3_PRIME | chr3 | 130439339 | |||||
| chr3:130439339
|
TTGTGTGT others(3): Show |
T | 11 | a0001c0001t0002g0189a0001c0001t0002g0190a0001c0001t0002g0191others(8): Show | 11 | HG00639.hp2 HG00642.hp1 HG00738.hp1 others(8): Show |
intron_variant | MODIFIER | c.5734-152_5734-143d others(12): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | INFO_REALIGN_3_PRIME | chr3 | 130439339 | |||||
| chr3:130439339
|
TTGTGTGT others(5): Show |
T | 1 | a0006c0005t0002g0008 | 2 | HG02965.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.5734-154_5734-143d others(14): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | INFO_REALIGN_3_PRIME | chr3 | 130439339 | |||||
| chr3:130439339
|
TTGTGTGT others(11): Show |
T | 2 | a0007c0008t0003g0001a0007c0081t0002g0262 | 3 | HG01256.hp1 HG03491.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.5734-160_5734-143d others(20): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | INFO_REALIGN_3_PRIME | chr3 | 130439339 | |||||
| chr3:130439340
|
TGTGTGTG others(4): Show |
T | 8 | a0019c0017t0001g0153a0019c0017t0003g0277a0019c0017t0003g0278others(5): Show | 9 | HG00639.hp1 HG00738.hp2 HG01167.hp1 others(6): Show |
intron_variant | MODIFIER | c.5734-181_5734-171d others(13): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130439340 | ||||||
| chr3:130439433
|
G | A | 11 | a0016c0020t0001g0171a0016c0020t0001g0272a0016c0020t0001g0273others(8): Show | 11 | HG01109.hp2 HG01891.hp2 HG02280.hp2 others(8): Show |
intron_variant | MODIFIER | c.5734-89G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130439433 | ||||||
| chr3:130439499
|
C | T | 63 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(60): Show | 66 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(63): Show |
intron_variant | MODIFIER | c.5734-23C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | chr3 | 130439499 | ||||||
| chr3:130439851
|
AT | A | 49 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(46): Show | 51 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(48): Show |
intron_variant | MODIFIER | c.5827+238delT | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 34/40 | INFO_REALIGN_3_PRIME | chr3 | 130439851 | |||||
| chr3:130439931
|
G | C | 1 | a0069c0056t0001g0114 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.5828-235G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 34/40 | chr3 | 130439931 | ||||||
| chr3:130440005
|
G | C | 1 | a0005c0006t0008g0188 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.5828-161G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 34/40 | chr3 | 130440005 | ||||||
| chr3:130440043
|
T | A | 1 | a0002c0002t0001g0129 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.5828-123T>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 34/40 | chr3 | 130440043 | ||||||
| chr3:130440145
|
T | A | 2 | a0011c0012t0003g0089a0062c0054t0001g0160 | 2 | HG03579.hp1 HG03834.hp1 |
intron_variant | MODIFIER | c.5828-21T>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 34/40 | chr3 | 130440145 | ||||||
| chr3:130440844
|
G | A | 19 | a0005c0006t0004g0044a0005c0006t0004g0047a0005c0006t0004g0048others(16): Show | 20 | HG00609.hp2 HG01109.hp1 HG01981.hp2 others(17): Show |
intron_variant | MODIFIER | c.6487+19G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 35/40 | chr3 | 130440844 | ||||||
| chr3:130441021
|
C | T | 2 | a0031c0037t0004g0037a0031c0037t0013g0035 | 2 | HG03209.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.6487+196C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 35/40 | chr3 | 130441021 | ||||||
| chr3:130441090
|
G | T | 231 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(228): Show | 240 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(237): Show |
intron_variant | MODIFIER | c.6487+265G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 35/40 | chr3 | 130441090 | ||||||
| chr3:130441152
|
C | A | 61 | a0001c0014t0002g0250a0002c0002t0001g0004a0002c0002t0001g0103others(58): Show | 64 | HG00408.hp2 HG00609.hp1 HG00621.hp1 others(61): Show |
intron_variant | MODIFIER | c.6487+327C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 35/40 | chr3 | 130441152 | ||||||
| chr3:130441366
|
G | T | 1 | a0003c0025t0002g0257 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.6487+541G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 35/40 | chr3 | 130441366 | ||||||
| chr3:130441373
|
A | G | 137 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(134): Show | 143 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(140): Show |
intron_variant | MODIFIER | c.6487+548A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 35/40 | chr3 | 130441373 | ||||||
| chr3:130441544
|
CATTGAAC others(18): Show |
C | 4 | a0030c0035t0001g0217a0030c0035t0001g0218a0044c0105t0006g0214others(1): Show | 4 | HG00735.hp2 HG03041.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.6487+721_6487+745d others(27): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 35/40 | INFO_REALIGN_3_PRIME | chr3 | 130441544 | |||||
| chr3:130441593
|
C | T | 214 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(211): Show | 223 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(220): Show |
intron_variant | MODIFIER | c.6487+768C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 35/40 | chr3 | 130441593 | ||||||
| chr3:130441617
|
A | G | 257 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(254): Show | 267 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(264): Show |
intron_variant | MODIFIER | c.6487+792A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 35/40 | chr3 | 130441617 | ||||||
| chr3:130441657
|
A | G | 13 | a0011c0012t0002g0195a0013c0016t0001g0144a0013c0016t0010g0013others(10): Show | 13 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(10): Show |
intron_variant | MODIFIER | c.6487+832A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 35/40 | chr3 | 130441657 | ||||||
| chr3:130441971
|
A | G | 6 | a0031c0037t0004g0037a0031c0037t0013g0035a0038c0043t0001g0183others(3): Show | 6 | HG01243.hp1 HG02647.hp2 HG03098.hp2 others(3): Show |
intron_variant | MODIFIER | c.6487+1146A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 35/40 | chr3 | 130441971 | ||||||
| chr3:130442025
|
G | A | 77 | a0001c0014t0002g0250a0002c0002t0001g0004a0002c0002t0001g0103others(74): Show | 80 | HG00140.hp2 HG00408.hp2 HG00609.hp1 others(77): Show |
intron_variant | MODIFIER | c.6487+1200G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 35/40 | chr3 | 130442025 | ||||||
| chr3:130442130
|
T | C | 6 | a0031c0037t0004g0037a0031c0037t0013g0035a0038c0043t0001g0183others(3): Show | 6 | HG01243.hp1 HG02647.hp2 HG03098.hp2 others(3): Show |
intron_variant | MODIFIER | c.6487+1305T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 35/40 | chr3 | 130442130 | ||||||
| chr3:130442193
|
C | A | 2 | a0007c0064t0006g0038a0029c0087t0006g0076 | 2 | HG01123.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.6488-1283C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 35/40 | chr3 | 130442193 | ||||||
| chr3:130442211
|
T | A | 1 | a0012c0011t0005g0043 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.6488-1265T>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 35/40 | chr3 | 130442211 | ||||||
| chr3:130442265
|
A | G | 2 | a0043c0104t0002g0092a0059c0073t0003g0040 | 2 | HG02109.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.6488-1211A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 35/40 | chr3 | 130442265 | ||||||
| chr3:130442302
|
C | T | 1 | a0027c0089t0002g0200 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.6488-1174C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 35/40 | chr3 | 130442302 | ||||||
| chr3:130442371
|
A | AT | 76 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(73): Show | 79 | HG00140.hp2 HG00408.hp2 HG00609.hp1 others(76): Show |
intron_variant | MODIFIER | c.6488-1098dupT | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 35/40 | INFO_REALIGN_3_PRIME | chr3 | 130442371 | |||||
| chr3:130442448
|
A | C | 1 | a0013c0016t0001g0144 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.6488-1028A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 35/40 | chr3 | 130442448 | ||||||
| chr3:130442560
|
C | T | 2 | a0031c0037t0004g0037a0031c0037t0013g0035 | 2 | HG03209.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.6488-916C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 35/40 | chr3 | 130442560 | ||||||
| chr3:130442660
|
G | C | 1 | a0001c0001t0002g0243 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.6488-816G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 35/40 | chr3 | 130442660 | ||||||
| chr3:130442801
|
T | A | 257 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(254): Show | 267 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(264): Show |
intron_variant | MODIFIER | c.6488-675T>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 35/40 | chr3 | 130442801 | ||||||
| chr3:130442821
|
A | G | 4 | a0001c0001t0002g0010a0001c0001t0002g0235a0035c0028t0001g0099others(1): Show | 5 | HG01070.hp1 HG01071.hp2 HG01081.hp1 others(2): Show |
intron_variant | MODIFIER | c.6488-655A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 35/40 | chr3 | 130442821 | ||||||
| chr3:130442883
|
G | C | 2 | a0040c0042t0011g0074a0040c0042t0011g0090 | 2 | HG02809.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.6488-593G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 35/40 | chr3 | 130442883 | ||||||
| chr3:130443118
|
T | C | 1 | a0003c0004t0001g0147 | 1 | NA18950.hp2 | intron_variant | MODIFIER | c.6488-358T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 35/40 | chr3 | 130443118 | ||||||
| chr3:130443121
|
G | A | 2 | a0007c0064t0006g0038a0029c0087t0006g0076 | 2 | HG01123.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.6488-355G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 35/40 | chr3 | 130443121 | ||||||
| chr3:130443228
|
C | T | 11 | a0007c0008t0003g0001a0007c0008t0003g0062a0007c0008t0003g0063others(8): Show | 12 | HG00733.hp1 HG01256.hp1 HG01257.hp1 others(9): Show |
intron_variant | MODIFIER | c.6488-248C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 35/40 | chr3 | 130443228 | ||||||
| chr3:130443838
|
T | G | 11 | a0016c0020t0001g0171a0016c0020t0001g0272a0016c0020t0001g0273others(8): Show | 11 | HG01109.hp2 HG01891.hp2 HG02280.hp2 others(8): Show |
intron_variant | MODIFIER | c.6578+272T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130443838 | ||||||
| chr3:130443945
|
T | C | 7 | a0011c0012t0003g0083a0011c0012t0003g0084a0011c0012t0003g0085others(4): Show | 7 | HG02572.hp2 HG02717.hp2 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.6578+379T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130443945 | ||||||
| chr3:130443964
|
G | A | 14 | a0011c0012t0002g0195a0013c0016t0001g0144a0013c0016t0010g0013others(11): Show | 14 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(11): Show |
intron_variant | MODIFIER | c.6578+398G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130443964 | ||||||
| chr3:130444022
|
C | T | 62 | a0001c0001t0002g0256a0001c0014t0002g0255a0004c0003t0001g0022others(59): Show | 64 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(61): Show |
intron_variant | MODIFIER | c.6578+456C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130444022 | ||||||
| chr3:130444029
|
G | A | 2 | a0007c0064t0006g0038a0029c0087t0006g0076 | 2 | HG01123.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.6578+463G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130444029 | ||||||
| chr3:130444268
|
C | T | 64 | a0001c0001t0002g0256a0001c0014t0002g0255a0004c0003t0001g0022others(61): Show | 66 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(63): Show |
intron_variant | MODIFIER | c.6578+702C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130444268 | ||||||
| chr3:130444284
|
G | A | 1 | a0002c0002t0001g0110 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.6578+718G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130444284 | ||||||
| chr3:130444297
|
C | T | 3 | a0036c0030t0002g0212a0036c0030t0002g0213a0089c0102t0005g0056 | 3 | HG02109.hp2 HG02895.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.6578+731C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130444297 | ||||||
| chr3:130444306
|
C | T | 14 | a0011c0012t0002g0195a0013c0016t0001g0144a0013c0016t0010g0013others(11): Show | 14 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(11): Show |
intron_variant | MODIFIER | c.6578+740C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130444306 | ||||||
| chr3:130444322
|
A | C | 1 | a0014c0013t0001g0143 | 1 | NA18989.hp2 | intron_variant | MODIFIER | c.6578+756A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130444322 | ||||||
| chr3:130444357
|
AG | A | 4 | a0004c0003t0002g0193a0004c0003t0002g0194a0004c0003t0002g0197others(1): Show | 4 | HG00280.hp1 HG01943.hp2 HG02683.hp1 others(1): Show |
intron_variant | MODIFIER | c.6578+794delG | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | INFO_REALIGN_3_PRIME | chr3 | 130444357 | |||||
| chr3:130444359
|
G | A | 76 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(73): Show | 79 | HG00140.hp2 HG00408.hp2 HG00609.hp1 others(76): Show |
intron_variant | MODIFIER | c.6578+793G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130444359 | ||||||
| chr3:130444507
|
C | T | 4 | a0002c0002t0001g0121a0017c0019t0002g0009a0017c0019t0002g0248others(1): Show | 5 | NA18975.hp1 NA18975.hp2 NA19001.hp1 others(2): Show |
intron_variant | MODIFIER | c.6578+941C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130444507 | ||||||
| chr3:130444523
|
G | A | 1 | a0081c0080t0011g0059 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.6578+957G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130444523 | ||||||
| chr3:130444539
|
G | C | 4 | a0016c0020t0001g0171a0016c0020t0001g0272a0016c0020t0001g0273others(1): Show | 4 | HG01891.hp2 HG02615.hp1 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.6578+973G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130444539 | ||||||
| chr3:130444665
|
C | T | 8 | a0001c0014t0002g0255a0008c0010t0001g0141a0008c0010t0001g0142others(5): Show | 8 | HG00544.hp1 HG00621.hp2 HG01361.hp1 others(5): Show |
intron_variant | MODIFIER | c.6578+1099C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130444665 | ||||||
| chr3:130444715
|
A | G | 15 | a0002c0047t0001g0111a0011c0012t0002g0195a0013c0016t0001g0144others(12): Show | 15 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(12): Show |
intron_variant | MODIFIER | c.6578+1149A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130444715 | ||||||
| chr3:130444739
|
T | G | 1 | a0014c0013t0001g0143 | 1 | NA18989.hp2 | intron_variant | MODIFIER | c.6578+1173T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130444739 | ||||||
| chr3:130444742
|
A | T | 1 | a0014c0013t0001g0143 | 1 | NA18989.hp2 | intron_variant | MODIFIER | c.6578+1176A>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130444742 | ||||||
| chr3:130445058
|
C | T | 14 | a0011c0012t0002g0195a0013c0016t0001g0144a0013c0016t0010g0013others(11): Show | 14 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(11): Show |
intron_variant | MODIFIER | c.6578+1492C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130445058 | ||||||
| chr3:130445059
|
G | A | 2 | a0031c0037t0004g0037a0031c0037t0013g0035 | 2 | HG03209.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.6578+1493G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130445059 | ||||||
| chr3:130445194
|
A | G | 11 | a0016c0020t0001g0171a0016c0020t0001g0272a0016c0020t0001g0273others(8): Show | 11 | HG01109.hp2 HG01891.hp2 HG02280.hp2 others(8): Show |
intron_variant | MODIFIER | c.6578+1628A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130445194 | ||||||
| chr3:130445238
|
A | C | 2 | a0007c0064t0006g0038a0029c0087t0006g0076 | 2 | HG01123.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.6578+1672A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130445238 | ||||||
| chr3:130445238
|
A | G | 212 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(209): Show | 221 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(218): Show |
intron_variant | MODIFIER | c.6578+1672A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130445238 | ||||||
| chr3:130445327
|
C | T | 1 | a0029c0088t0014g0088 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.6578+1761C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130445327 | ||||||
| chr3:130445379
|
T | A | 214 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(211): Show | 223 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(220): Show |
intron_variant | MODIFIER | c.6578+1813T>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130445379 | ||||||
| chr3:130445416
|
C | T | 4 | a0030c0035t0001g0217a0030c0035t0001g0218a0044c0105t0006g0214others(1): Show | 4 | HG00735.hp2 HG03041.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.6578+1850C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130445416 | ||||||
| chr3:130445600
|
A | G | 60 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(57): Show | 63 | HG00408.hp2 HG00609.hp1 HG00621.hp1 others(60): Show |
intron_variant | MODIFIER | c.6578+2034A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130445600 | ||||||
| chr3:130445672
|
C | T | 1 | a0009c0009t0002g0097 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.6578+2106C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130445672 | ||||||
| chr3:130445673
|
G | C | 1 | a0001c0001t0002g0239 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.6578+2107G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130445673 | ||||||
| chr3:130445674
|
G | A | 1 | a0006c0005t0001g0021 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.6578+2108G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130445674 | ||||||
| chr3:130445738
|
C | T | 214 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(211): Show | 223 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(220): Show |
intron_variant | MODIFIER | c.6578+2172C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130445738 | ||||||
| chr3:130445857
|
C | A | 2 | a0040c0042t0011g0074a0040c0042t0011g0090 | 2 | HG02809.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.6578+2291C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130445857 | ||||||
| chr3:130445887
|
T | C | 14 | a0011c0012t0002g0195a0013c0016t0001g0144a0013c0016t0010g0013others(11): Show | 14 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(11): Show |
intron_variant | MODIFIER | c.6578+2321T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130445887 | ||||||
| chr3:130445901
|
G | A | 214 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(211): Show | 223 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(220): Show |
intron_variant | MODIFIER | c.6578+2335G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130445901 | ||||||
| chr3:130446214
|
T | C | 7 | a0016c0020t0001g0171a0016c0020t0001g0272a0016c0020t0001g0273others(4): Show | 7 | HG01891.hp2 HG02280.hp2 HG02615.hp1 others(4): Show |
intron_variant | MODIFIER | c.6578+2648T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130446214 | ||||||
| chr3:130446501
|
A | G | 2 | a0011c0012t0003g0089a0062c0054t0001g0160 | 2 | HG03579.hp1 HG03834.hp1 |
intron_variant | MODIFIER | c.6578+2935A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130446501 | ||||||
| chr3:130446559
|
A | G | 4 | a0002c0002t0001g0121a0017c0019t0002g0009a0017c0019t0002g0248others(1): Show | 5 | NA18975.hp1 NA18975.hp2 NA19001.hp1 others(2): Show |
intron_variant | MODIFIER | c.6578+2993A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130446559 | ||||||
| chr3:130446632
|
C | T | 1 | a0003c0004t0001g0151 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.6578+3066C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130446632 | ||||||
| chr3:130446658
|
C | T | 1 | a0001c0014t0002g0238 | 1 | NA18972.hp2 | intron_variant | MODIFIER | c.6578+3092C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130446658 | ||||||
| chr3:130446792
|
GT | G | 201 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(198): Show | 208 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(205): Show |
intron_variant | MODIFIER | c.6578+3228delT | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | INFO_REALIGN_3_PRIME | chr3 | 130446792 | |||||
| chr3:130446917
|
A | G | 2 | a0005c0006t0004g0071a0005c0006t0008g0188 | 2 | HG00609.hp2 NA19062.hp2 |
intron_variant | MODIFIER | c.6578+3351A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130446917 | ||||||
| chr3:130446953
|
G | A | 1 | a0064c0061t0002g0267 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.6578+3387G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130446953 | ||||||
| chr3:130446968
|
T | C | 2 | a0012c0011t0002g0208a0012c0011t0002g0209 | 2 | HG00597.hp1 NA19005.hp2 |
intron_variant | MODIFIER | c.6578+3402T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130446968 | ||||||
| chr3:130446982
|
A | G | 2 | a0006c0005t0002g0228a0006c0005t0002g0230 | 2 | HG01069.hp2 HG01071.hp1 |
intron_variant | MODIFIER | c.6578+3416A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130446982 | ||||||
| chr3:130447023
|
G | A | 46 | a0003c0004t0001g0018a0003c0004t0001g0019a0003c0004t0001g0020others(43): Show | 47 | HG00609.hp2 HG01109.hp1 HG01243.hp1 others(44): Show |
intron_variant | MODIFIER | c.6578+3457G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130447023 | ||||||
| chr3:130447090
|
C | G | 2 | a0009c0009t0002g0094a0009c0009t0002g0095 | 2 | NA19056.hp2 NA19063.hp2 |
intron_variant | MODIFIER | c.6578+3524C>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130447090 | ||||||
| chr3:130447127
|
G | T | 4 | a0030c0035t0001g0217a0030c0035t0001g0218a0044c0105t0006g0214others(1): Show | 4 | HG00735.hp2 HG03041.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.6578+3561G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130447127 | ||||||
| chr3:130447136
|
A | G | 1 | a0042c0103t0002g0091 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.6578+3570A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130447136 | ||||||
| chr3:130447200
|
T | C | 76 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(73): Show | 79 | HG00140.hp2 HG00408.hp2 HG00609.hp1 others(76): Show |
intron_variant | MODIFIER | c.6578+3634T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130447200 | ||||||
| chr3:130447347
|
C | T | 2 | a0010c0007t0001g0105a0010c0007t0001g0136 | 2 | HG00621.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.6578+3781C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130447347 | ||||||
| chr3:130447408
|
C | T | 19 | a0005c0006t0004g0044a0005c0006t0004g0047a0005c0006t0004g0048others(16): Show | 20 | HG00609.hp2 HG01109.hp1 HG01981.hp2 others(17): Show |
intron_variant | MODIFIER | c.6578+3842C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130447408 | ||||||
| chr3:130447597
|
A | C | 11 | a0005c0006t0004g0044a0005c0006t0004g0047a0005c0006t0004g0048others(8): Show | 12 | HG00609.hp2 HG03490.hp1 HG03492.hp2 others(9): Show |
intron_variant | MODIFIER | c.6578+4031A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130447597 | ||||||
| chr3:130447609
|
C | T | 7 | a0011c0012t0003g0083a0011c0012t0003g0084a0011c0012t0003g0085others(4): Show | 7 | HG02572.hp2 HG02717.hp2 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.6578+4043C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130447609 | ||||||
| chr3:130447831
|
A | AC | 214 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(211): Show | 223 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(220): Show |
intron_variant | MODIFIER | c.6578+4266dupC | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | INFO_REALIGN_3_PRIME | chr3 | 130447831 | |||||
| chr3:130448234
|
C | T | 1 | a0061c0053t0001g0175 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.6578+4668C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130448234 | ||||||
| chr3:130448262
|
C | T | 136 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(133): Show | 141 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(138): Show |
intron_variant | MODIFIER | c.6578+4696C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130448262 | ||||||
| chr3:130448332
|
G | A | 64 | a0001c0001t0002g0256a0001c0014t0002g0255a0004c0003t0001g0022others(61): Show | 66 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(63): Show |
intron_variant | MODIFIER | c.6578+4766G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130448332 | ||||||
| chr3:130448349
|
G | A | 2 | a0043c0104t0002g0092a0059c0073t0003g0040 | 2 | HG02109.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.6578+4783G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130448349 | ||||||
| chr3:130448457
|
A | G | 216 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(213): Show | 225 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(222): Show |
intron_variant | MODIFIER | c.6578+4891A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130448457 | ||||||
| chr3:130448525
|
C | A | 1 | a0035c0028t0001g0104 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.6578+4959C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130448525 | ||||||
| chr3:130448525
|
C | G | 2 | a0025c0041t0001g0177a0025c0041t0001g0178 | 2 | HG02818.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.6578+4959C>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130448525 | ||||||
| chr3:130448542
|
T | C | 2 | a0052c0101t0003g0061a0063c0055t0001g0116 | 2 | HG01243.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.6578+4976T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130448542 | ||||||
| chr3:130448608
|
C | T | 4 | a0007c0064t0006g0038a0023c0021t0006g0002a0023c0021t0006g0080others(1): Show | 5 | HG00738.hp2 HG01123.hp1 HG01167.hp1 others(2): Show |
intron_variant | MODIFIER | c.6578+5042C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130448608 | ||||||
| chr3:130448693
|
G | C | 213 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(210): Show | 222 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(219): Show |
intron_variant | MODIFIER | c.6578+5127G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130448693 | ||||||
| chr3:130448790
|
T | C | 1 | a0054c0091t0015g0031 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.6578+5224T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130448790 | ||||||
| chr3:130448798
|
G | A | 4 | a0030c0035t0001g0217a0030c0035t0001g0218a0044c0105t0006g0214others(1): Show | 4 | HG00735.hp2 HG03041.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.6578+5232G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130448798 | ||||||
| chr3:130448881
|
C | A | 213 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(210): Show | 222 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(219): Show |
intron_variant | MODIFIER | c.6578+5315C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130448881 | ||||||
| chr3:130449166
|
A | G | 11 | a0005c0006t0004g0044a0005c0006t0004g0047a0005c0006t0004g0048others(8): Show | 12 | HG00609.hp2 HG03490.hp1 HG03492.hp2 others(9): Show |
intron_variant | MODIFIER | c.6578+5600A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130449166 | ||||||
| chr3:130449193
|
G | A | 13 | a0011c0012t0002g0195a0013c0016t0001g0144a0013c0016t0010g0013others(10): Show | 13 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(10): Show |
intron_variant | MODIFIER | c.6578+5627G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130449193 | ||||||
| chr3:130449199
|
G | A | 4 | a0007c0064t0006g0038a0023c0021t0006g0002a0023c0021t0006g0080others(1): Show | 5 | HG00738.hp2 HG01123.hp1 HG01167.hp1 others(2): Show |
intron_variant | MODIFIER | c.6578+5633G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130449199 | ||||||
| chr3:130449199
|
G | C | 4 | a0011c0012t0003g0089a0052c0101t0003g0061a0062c0054t0001g0160others(1): Show | 4 | HG01243.hp1 HG02647.hp2 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.6578+5633G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130449199 | ||||||
| chr3:130449207
|
G | A | 5 | a0016c0020t0001g0171a0016c0020t0001g0272a0016c0020t0001g0273others(2): Show | 5 | HG01891.hp2 HG02615.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.6578+5641G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130449207 | ||||||
| chr3:130449319
|
C | T | 1 | a0002c0002t0001g0103 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.6578+5753C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130449319 | ||||||
| chr3:130449360
|
T | C | 70 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(67): Show | 73 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(70): Show |
intron_variant | MODIFIER | c.6578+5794T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130449360 | ||||||
| chr3:130449488
|
C | G | 1 | a0006c0005t0002g0252 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.6578+5922C>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130449488 | ||||||
| chr3:130449675
|
G | T | 14 | a0011c0012t0002g0195a0013c0016t0001g0144a0013c0016t0010g0013others(11): Show | 14 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(11): Show |
intron_variant | MODIFIER | c.6579-5780G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130449675 | ||||||
| chr3:130449757
|
C | T | 1 | a0008c0010t0001g0108 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.6579-5698C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130449757 | ||||||
| chr3:130449759
|
G | A | 213 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(210): Show | 222 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(219): Show |
intron_variant | MODIFIER | c.6579-5696G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130449759 | ||||||
| chr3:130449960
|
G | A | 2 | a0033c0029t0001g0117a0033c0029t0001g0120 | 2 | HG02258.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.6579-5495G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130449960 | ||||||
| chr3:130449976
|
G | A | 4 | a0007c0064t0006g0038a0023c0021t0006g0002a0023c0021t0006g0080others(1): Show | 5 | HG00738.hp2 HG01123.hp1 HG01167.hp1 others(2): Show |
intron_variant | MODIFIER | c.6579-5479G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130449976 | ||||||
| chr3:130450057
|
A | T | 213 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(210): Show | 222 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(219): Show |
intron_variant | MODIFIER | c.6579-5398A>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130450057 | ||||||
| chr3:130450069
|
CAGA | C | 3 | a0030c0035t0001g0217a0030c0035t0001g0218a0077c0065t0001g0161 | 3 | HG03041.hp1 HG03453.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.6579-5383_6579-538 others(7): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | INFO_REALIGN_3_PRIME | chr3 | 130450069 | |||||
| chr3:130450081
|
CTGGGACC others(12): Show |
C | 224 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(221): Show | 233 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(230): Show |
intron_variant | MODIFIER | c.6579-5355_6579-533 others(23): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | INFO_REALIGN_3_PRIME | chr3 | 130450081 | |||||
| chr3:130450123
|
T | G | 213 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(210): Show | 222 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(219): Show |
intron_variant | MODIFIER | c.6579-5332T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130450123 | ||||||
| chr3:130450247
|
C | G | 1 | a0001c0001t0002g0224 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.6579-5208C>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130450247 | ||||||
| chr3:130450263
|
G | A | 3 | a0033c0029t0001g0117a0033c0029t0001g0120a0076c0068t0003g0052 | 3 | HG02258.hp2 HG02615.hp2 HG02630.hp1 |
intron_variant | MODIFIER | c.6579-5192G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130450263 | ||||||
| chr3:130450321
|
G | A | 1 | a0002c0002t0001g0004 | 2 | NA19065.hp2 NA19070.hp2 |
intron_variant | MODIFIER | c.6579-5134G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130450321 | ||||||
| chr3:130450363
|
G | A | 1 | a0013c0075t0016g0012 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.6579-5092G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130450363 | ||||||
| chr3:130450370
|
C | T | 1 | a0002c0034t0002g0231 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.6579-5085C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130450370 | ||||||
| chr3:130450488
|
A | G | 1 | a0073c0066t0006g0060 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.6579-4967A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130450488 | ||||||
| chr3:130450530
|
A | G | 4 | a0007c0064t0006g0038a0023c0021t0006g0002a0023c0021t0006g0080others(1): Show | 5 | HG00738.hp2 HG01123.hp1 HG01167.hp1 others(2): Show |
intron_variant | MODIFIER | c.6579-4925A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130450530 | ||||||
| chr3:130450599
|
C | T | 1 | a0003c0004t0002g0221 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.6579-4856C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130450599 | ||||||
| chr3:130450715
|
A | C | 2 | a0001c0001t0002g0242a0001c0001t0002g0246 | 2 | HG00738.hp1 HG04204.hp2 |
intron_variant | MODIFIER | c.6579-4740A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130450715 | ||||||
| chr3:130450784
|
G | A | 1 | a0018c0018t0001g0158 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.6579-4671G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130450784 | ||||||
| chr3:130450980
|
C | T | 4 | a0030c0035t0001g0217a0030c0035t0001g0218a0044c0105t0006g0214others(1): Show | 4 | HG00735.hp2 HG03041.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.6579-4475C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130450980 | ||||||
| chr3:130451194
|
C | T | 1 | a0003c0004t0002g0221 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.6579-4261C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130451194 | ||||||
| chr3:130451331
|
G | A | 1 | a0001c0001t0002g0220 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.6579-4124G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130451331 | ||||||
| chr3:130451337
|
A | G | 251 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(248): Show | 261 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(258): Show |
intron_variant | MODIFIER | c.6579-4118A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130451337 | ||||||
| chr3:130451373
|
G | T | 70 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(67): Show | 73 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(70): Show |
intron_variant | MODIFIER | c.6579-4082G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130451373 | ||||||
| chr3:130451523
|
G | A | 1 | a0009c0009t0002g0101 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.6579-3932G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130451523 | ||||||
| chr3:130451605
|
A | G | 1 | a0030c0035t0001g0217 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.6579-3850A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130451605 | ||||||
| chr3:130451633
|
G | A | 3 | a0006c0005t0002g0008a0074c0106t0003g0078a0087c0076t0001g0274 | 4 | HG02922.hp1 HG02965.hp2 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.6579-3822G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130451633 | ||||||
| chr3:130451783
|
G | A | 213 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(210): Show | 222 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(219): Show |
intron_variant | MODIFIER | c.6579-3672G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130451783 | ||||||
| chr3:130451787
|
C | G | 70 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(67): Show | 73 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(70): Show |
intron_variant | MODIFIER | c.6579-3668C>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130451787 | ||||||
| chr3:130451800
|
A | G | 281 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(278): Show | 291 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(288): Show |
intron_variant | MODIFIER | c.6579-3655A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130451800 | ||||||
| chr3:130451847
|
T | C | 136 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(133): Show | 141 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(138): Show |
intron_variant | MODIFIER | c.6579-3608T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130451847 | ||||||
| chr3:130451897
|
G | T | 66 | a0001c0001t0002g0256a0001c0001t0002g0265a0001c0014t0002g0255others(63): Show | 68 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(65): Show |
intron_variant | MODIFIER | c.6579-3558G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130451897 | ||||||
| chr3:130451928
|
G | A | 66 | a0001c0001t0002g0256a0001c0001t0002g0265a0001c0014t0002g0255others(63): Show | 68 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(65): Show |
intron_variant | MODIFIER | c.6579-3527G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130451928 | ||||||
| chr3:130451976
|
A | G | 1 | a0044c0105t0006g0214 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.6579-3479A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130451976 | ||||||
| chr3:130451993
|
C | T | 3 | a0049c0093t0007g0184a0066c0057t0008g0187a0083c0046t0007g0033 | 3 | HG02056.hp2 HG03239.hp1 NA18955.hp1 |
intron_variant | MODIFIER | c.6579-3462C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130451993 | ||||||
| chr3:130452029
|
G | A | 251 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(248): Show | 261 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(258): Show |
intron_variant | MODIFIER | c.6579-3426G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130452029 | ||||||
| chr3:130452046
|
A | G | 4 | a0030c0035t0001g0217a0030c0035t0001g0218a0044c0105t0006g0214others(1): Show | 4 | HG00735.hp2 HG03041.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.6579-3409A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130452046 | ||||||
| chr3:130452110
|
A | G | 1 | a0072c0072t0001g0182 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.6579-3345A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130452110 | ||||||
| chr3:130452123
|
A | C | 1 | a0072c0072t0001g0182 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.6579-3332A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130452123 | ||||||
| chr3:130452221
|
C | T | 6 | a0019c0017t0001g0153a0019c0017t0003g0277a0019c0017t0003g0278others(3): Show | 6 | HG00639.hp1 HG02896.hp2 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.6579-3234C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130452221 | ||||||
| chr3:130452223
|
G | A | 45 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(42): Show | 48 | HG00408.hp2 HG00609.hp1 HG00621.hp1 others(45): Show |
intron_variant | MODIFIER | c.6579-3232G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130452223 | ||||||
| chr3:130452256
|
G | A | 3 | a0002c0002t0001g0123a0002c0002t0001g0131a0088c0051t0001g0137 | 3 | NA19004.hp1 NA19010.hp1 NA19055.hp1 |
intron_variant | MODIFIER | c.6579-3199G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130452256 | ||||||
| chr3:130452293
|
A | G | 213 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(210): Show | 222 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(219): Show |
intron_variant | MODIFIER | c.6579-3162A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130452293 | ||||||
| chr3:130452315
|
A | G | 1 | a0009c0009t0002g0094 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.6579-3140A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130452315 | ||||||
| chr3:130452351
|
A | AT | 213 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(210): Show | 222 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(219): Show |
intron_variant | MODIFIER | c.6579-3102dupT | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | INFO_REALIGN_3_PRIME | chr3 | 130452351 | |||||
| chr3:130452422
|
G | C | 1 | a0001c0001t0002g0223 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.6579-3033G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130452422 | ||||||
| chr3:130452431
|
T | G | 1 | a0059c0073t0003g0040 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.6579-3024T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130452431 | ||||||
| chr3:130452448
|
G | A | 1 | a0013c0075t0016g0012 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.6579-3007G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130452448 | ||||||
| chr3:130452493
|
C | T | 5 | a0002c0002t0001g0004a0002c0002t0001g0128a0002c0002t0001g0133others(2): Show | 6 | HG02040.hp1 HG02083.hp2 NA18980.hp1 others(3): Show |
intron_variant | MODIFIER | c.6579-2962C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130452493 | ||||||
| chr3:130452506
|
A | C | 1 | a0005c0006t0004g0048 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.6579-2949A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130452506 | ||||||
| chr3:130452581
|
A | C | 1 | a0001c0001t0002g0234 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.6579-2874A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130452581 | ||||||
| chr3:130452618
|
C | T | 3 | a0011c0012t0003g0089a0052c0101t0003g0061a0062c0054t0001g0160 | 3 | HG01243.hp1 HG03579.hp1 HG03834.hp1 |
intron_variant | MODIFIER | c.6579-2837C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130452618 | ||||||
| chr3:130452704
|
G | A | 70 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(67): Show | 73 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(70): Show |
intron_variant | MODIFIER | c.6579-2751G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130452704 | ||||||
| chr3:130452780
|
A | G | 3 | a0030c0035t0001g0217a0030c0035t0001g0218a0077c0065t0001g0161 | 3 | HG03041.hp1 HG03453.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.6579-2675A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130452780 | ||||||
| chr3:130452797
|
C | A | 3 | a0030c0035t0001g0217a0030c0035t0001g0218a0077c0065t0001g0161 | 3 | HG03041.hp1 HG03453.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.6579-2658C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130452797 | ||||||
| chr3:130452818
|
C | T | 3 | a0006c0005t0002g0008a0074c0106t0003g0078a0087c0076t0001g0274 | 4 | HG02922.hp1 HG02965.hp2 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.6579-2637C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130452818 | ||||||
| chr3:130452836
|
A | G | 12 | a0011c0012t0003g0083a0011c0012t0003g0084a0011c0012t0003g0085others(9): Show | 12 | HG02572.hp1 HG02572.hp2 HG02622.hp1 others(9): Show |
intron_variant | MODIFIER | c.6579-2619A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130452836 | ||||||
| chr3:130452860
|
G | A | 1 | a0029c0087t0006g0076 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.6579-2595G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130452860 | ||||||
| chr3:130453043
|
T | C | 4 | a0007c0064t0006g0038a0023c0021t0006g0002a0023c0021t0006g0080others(1): Show | 5 | HG00738.hp2 HG01123.hp1 HG01167.hp1 others(2): Show |
intron_variant | MODIFIER | c.6579-2412T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130453043 | ||||||
| chr3:130453113
|
A | G | 7 | a0016c0020t0001g0171a0016c0020t0001g0272a0016c0020t0001g0273others(4): Show | 7 | HG01109.hp2 HG01891.hp2 HG02280.hp2 others(4): Show |
intron_variant | MODIFIER | c.6579-2342A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130453113 | ||||||
| chr3:130453214
|
T | C | 1 | a0034c0027t0001g0006 | 2 | HG01256.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.6579-2241T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130453214 | ||||||
| chr3:130453227
|
A | C | 11 | a0007c0008t0003g0001a0007c0008t0003g0062a0007c0008t0003g0063others(8): Show | 12 | HG00733.hp1 HG01256.hp1 HG01257.hp1 others(9): Show |
intron_variant | MODIFIER | c.6579-2228A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130453227 | ||||||
| chr3:130453304
|
T | C | 19 | a0005c0006t0004g0044a0005c0006t0004g0047a0005c0006t0004g0048others(16): Show | 20 | HG00609.hp2 HG01109.hp1 HG01981.hp2 others(17): Show |
intron_variant | MODIFIER | c.6579-2151T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130453304 | ||||||
| chr3:130453305
|
T | C | 6 | a0019c0017t0001g0153a0019c0017t0003g0277a0019c0017t0003g0278others(3): Show | 6 | HG00639.hp1 HG02896.hp2 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.6579-2150T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130453305 | ||||||
| chr3:130453313
|
C | G | 2 | a0025c0041t0001g0177a0025c0041t0001g0178 | 2 | HG02818.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.6579-2142C>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130453313 | ||||||
| chr3:130453328
|
A | G | 1 | a0012c0011t0002g0203 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.6579-2127A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130453328 | ||||||
| chr3:130453345
|
C | T | 1 | a0010c0007t0001g0170 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.6579-2110C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130453345 | ||||||
| chr3:130453367
|
C | T | 4 | a0007c0064t0006g0038a0023c0021t0006g0002a0023c0021t0006g0080others(1): Show | 5 | HG00738.hp2 HG01123.hp1 HG01167.hp1 others(2): Show |
intron_variant | MODIFIER | c.6579-2088C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130453367 | ||||||
| chr3:130453384
|
G | A | 2 | a0011c0012t0003g0089a0062c0054t0001g0160 | 2 | HG03579.hp1 HG03834.hp1 |
intron_variant | MODIFIER | c.6579-2071G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130453384 | ||||||
| chr3:130453399
|
G | T | 1 | a0016c0020t0001g0275 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.6579-2056G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130453399 | ||||||
| chr3:130453521
|
C | T | 1 | a0006c0005t0002g0252 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.6579-1934C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130453521 | ||||||
| chr3:130453672
|
G | A | 14 | a0011c0012t0002g0195a0013c0016t0001g0144a0013c0016t0010g0013others(11): Show | 14 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(11): Show |
intron_variant | MODIFIER | c.6579-1783G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130453672 | ||||||
| chr3:130453708
|
A | G | 1 | a0061c0053t0001g0175 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.6579-1747A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130453708 | ||||||
| chr3:130453898
|
C | G | 59 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(56): Show | 62 | HG00408.hp2 HG00609.hp1 HG00621.hp1 others(59): Show |
intron_variant | MODIFIER | c.6579-1557C>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130453898 | ||||||
| chr3:130453910
|
A | G | 213 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(210): Show | 222 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(219): Show |
intron_variant | MODIFIER | c.6579-1545A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130453910 | ||||||
| chr3:130453948
|
G | A | 227 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(224): Show | 236 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(233): Show |
intron_variant | MODIFIER | c.6579-1507G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130453948 | ||||||
| chr3:130454013
|
A | C | 4 | a0007c0064t0006g0038a0023c0021t0006g0002a0023c0021t0006g0080others(1): Show | 5 | HG00738.hp2 HG01123.hp1 HG01167.hp1 others(2): Show |
intron_variant | MODIFIER | c.6579-1442A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130454013 | ||||||
| chr3:130454229
|
A | T | 2 | a0010c0007t0001g0105a0010c0007t0001g0136 | 2 | HG00621.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.6579-1226A>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130454229 | ||||||
| chr3:130454248
|
A | AT | 213 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(210): Show | 222 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(219): Show |
intron_variant | MODIFIER | c.6579-1207_6579-120 others(5): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130454248 | ||||||
| chr3:130454279
|
G | T | 5 | a0036c0030t0002g0212a0036c0030t0002g0213a0042c0103t0002g0091others(2): Show | 5 | HG02109.hp2 HG02647.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.6579-1176G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130454279 | ||||||
| chr3:130454296
|
A | G | 2 | a0026c0038t0002g0261a0026c0038t0002g0263 | 2 | HG02300.hp1 HG03490.hp2 |
intron_variant | MODIFIER | c.6579-1159A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130454296 | ||||||
| chr3:130454350
|
A | C | 4 | a0007c0064t0006g0038a0023c0021t0006g0002a0023c0021t0006g0080others(1): Show | 5 | HG00738.hp2 HG01123.hp1 HG01167.hp1 others(2): Show |
intron_variant | MODIFIER | c.6579-1105A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130454350 | ||||||
| chr3:130454747
|
G | A | 1 | a0047c0084t0002g0271 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.6579-708G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130454747 | ||||||
| chr3:130454864
|
G | C | 7 | a0016c0020t0001g0171a0016c0020t0001g0272a0016c0020t0001g0273others(4): Show | 7 | HG01109.hp2 HG01891.hp2 HG02280.hp2 others(4): Show |
intron_variant | MODIFIER | c.6579-591G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130454864 | ||||||
| chr3:130455004
|
G | T | 7 | a0016c0020t0001g0171a0016c0020t0001g0272a0016c0020t0001g0273others(4): Show | 7 | HG01109.hp2 HG01891.hp2 HG02280.hp2 others(4): Show |
intron_variant | MODIFIER | c.6579-451G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130455004 | ||||||
| chr3:130455099
|
C | T | 7 | a0016c0020t0001g0171a0016c0020t0001g0272a0016c0020t0001g0273others(4): Show | 7 | HG01109.hp2 HG01891.hp2 HG02280.hp2 others(4): Show |
intron_variant | MODIFIER | c.6579-356C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130455099 | ||||||
| chr3:130455150
|
C | CA | 7 | a0004c0003t0002g0193a0007c0064t0006g0038a0023c0021t0006g0002others(4): Show | 8 | HG00738.hp2 HG01123.hp1 HG01167.hp1 others(5): Show |
intron_variant | MODIFIER | c.6579-292dupA | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | INFO_REALIGN_3_PRIME | chr3 | 130455150 | |||||
| chr3:130455150
|
C | CAA | 63 | a0001c0001t0002g0256a0001c0001t0002g0265a0001c0014t0002g0255others(60): Show | 65 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(62): Show |
intron_variant | MODIFIER | c.6579-293_6579-292d others(4): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | INFO_REALIGN_3_PRIME | chr3 | 130455150 | |||||
| chr3:130455160
|
A | C | 48 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(45): Show | 51 | HG00408.hp2 HG00609.hp1 HG00621.hp1 others(48): Show |
intron_variant | MODIFIER | c.6579-295A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130455160 | ||||||
| chr3:130455164
|
C | A | 1 | a0004c0003t0002g0193 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.6579-291C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130455164 | ||||||
| chr3:130455225
|
G | A | 1 | a0003c0025t0001g0124 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.6579-230G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | chr3 | 130455225 | ||||||
| chr3:130455859
|
C | G | 2 | a0011c0012t0003g0089a0062c0054t0001g0160 | 2 | HG03579.hp1 HG03834.hp1 |
intron_variant | MODIFIER | c.6790+193C>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130455859 | ||||||
| chr3:130455959
|
T | G | 4 | a0007c0064t0006g0038a0023c0021t0006g0002a0023c0021t0006g0080others(1): Show | 5 | HG00738.hp2 HG01123.hp1 HG01167.hp1 others(2): Show |
intron_variant | MODIFIER | c.6790+293T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130455959 | ||||||
| chr3:130456004
|
T | G | 1 | a0003c0004t0001g0019 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.6790+338T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130456004 | ||||||
| chr3:130456072
|
G | A | 1 | a0061c0053t0001g0175 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.6790+406G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130456072 | ||||||
| chr3:130456184
|
G | A | 135 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(132): Show | 140 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(137): Show |
intron_variant | MODIFIER | c.6790+518G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130456184 | ||||||
| chr3:130456504
|
G | T | 1 | a0009c0009t0002g0100 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.6790+838G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130456504 | ||||||
| chr3:130456523
|
G | A | 213 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(210): Show | 222 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(219): Show |
intron_variant | MODIFIER | c.6790+857G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130456523 | ||||||
| chr3:130456551
|
G | A | 1 | a0001c0001t0002g0256 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.6790+885G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130456551 | ||||||
| chr3:130456666
|
T | C | 227 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(224): Show | 236 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(233): Show |
intron_variant | MODIFIER | c.6790+1000T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130456666 | ||||||
| chr3:130456687
|
A | G | 6 | a0019c0017t0001g0153a0019c0017t0003g0277a0019c0017t0003g0278others(3): Show | 6 | HG00639.hp1 HG02896.hp2 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.6790+1021A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130456687 | ||||||
| chr3:130456817
|
C | T | 1 | a0079c0063t0003g0215 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.6790+1151C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130456817 | ||||||
| chr3:130457067
|
C | CT | 209 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(206): Show | 217 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(214): Show |
intron_variant | MODIFIER | c.6790+1408dupT | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | INFO_REALIGN_3_PRIME | chr3 | 130457067 | |||||
| chr3:130457292
|
A | G | 7 | a0016c0020t0001g0171a0016c0020t0001g0272a0016c0020t0001g0273others(4): Show | 7 | HG01109.hp2 HG01891.hp2 HG02280.hp2 others(4): Show |
intron_variant | MODIFIER | c.6790+1626A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130457292 | ||||||
| chr3:130457366
|
A | G | 3 | a0006c0005t0002g0252a0006c0005t0003g0081a0058c0107t0003g0072 | 3 | HG01255.hp1 HG02622.hp2 HG02630.hp2 |
intron_variant | MODIFIER | c.6790+1700A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130457366 | ||||||
| chr3:130457560
|
A | T | 1 | a0006c0005t0003g0039 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.6790+1894A>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130457560 | ||||||
| chr3:130457569
|
C | A | 1 | a0091c0078t0002g0276 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.6790+1903C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130457569 | ||||||
| chr3:130457626
|
G | T | 3 | a0001c0001t0002g0224a0001c0001t0002g0266a0034c0027t0001g0006 | 4 | HG00280.hp2 HG01256.hp2 HG01258.hp1 others(1): Show |
intron_variant | MODIFIER | c.6790+1960G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130457626 | ||||||
| chr3:130457680
|
C | G | 1 | a0059c0073t0003g0040 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.6790+2014C>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130457680 | ||||||
| chr3:130457874
|
G | A | 1 | a0019c0017t0003g0277 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.6790+2208G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130457874 | ||||||
| chr3:130457889
|
T | C | 2 | a0001c0001t0002g0010a0001c0001t0002g0235 | 3 | HG01070.hp1 HG01071.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.6790+2223T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130457889 | ||||||
| chr3:130458218
|
C | T | 11 | a0016c0020t0001g0171a0016c0020t0001g0272a0016c0020t0001g0273others(8): Show | 11 | HG00735.hp2 HG01109.hp2 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.6790+2552C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130458218 | ||||||
| chr3:130458254
|
A | C | 2 | a0003c0004t0001g0018a0003c0004t0001g0019 | 2 | HG01975.hp1 HG01993.hp2 |
intron_variant | MODIFIER | c.6790+2588A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130458254 | ||||||
| chr3:130458337
|
T | A | 1 | a0077c0065t0001g0161 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.6790+2671T>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130458337 | ||||||
| chr3:130458802
|
G | C | 64 | a0001c0001t0002g0256a0001c0001t0002g0265a0001c0014t0002g0255others(61): Show | 66 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(63): Show |
intron_variant | MODIFIER | c.6790+3136G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130458802 | ||||||
| chr3:130458857
|
T | C | 59 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(56): Show | 62 | HG00408.hp2 HG00609.hp1 HG00621.hp1 others(59): Show |
intron_variant | MODIFIER | c.6790+3191T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130458857 | ||||||
| chr3:130458896
|
G | A | 70 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(67): Show | 73 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(70): Show |
intron_variant | MODIFIER | c.6790+3230G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130458896 | ||||||
| chr3:130459044
|
T | G | 1 | a0064c0061t0002g0267 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.6790+3378T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130459044 | ||||||
| chr3:130459169
|
C | T | 1 | a0037c0032t0005g0057 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.6790+3503C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130459169 | ||||||
| chr3:130459222
|
A | C | 150 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(147): Show | 155 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(152): Show |
intron_variant | MODIFIER | c.6790+3556A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130459222 | ||||||
| chr3:130459222
|
A | G | 1 | a0032c0100t0002g0232 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.6790+3556A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130459222 | ||||||
| chr3:130459321
|
T | G | 4 | a0007c0064t0006g0038a0023c0021t0006g0002a0023c0021t0006g0080others(1): Show | 5 | HG00738.hp2 HG01123.hp1 HG01167.hp1 others(2): Show |
intron_variant | MODIFIER | c.6790+3655T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130459321 | ||||||
| chr3:130459327
|
G | A | 14 | a0011c0012t0002g0195a0013c0016t0001g0144a0013c0016t0010g0013others(11): Show | 14 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(11): Show |
intron_variant | MODIFIER | c.6790+3661G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130459327 | ||||||
| chr3:130459432
|
C | T | 1 | a0060c0074t0002g0034 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.6790+3766C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130459432 | ||||||
| chr3:130459451
|
C | T | 13 | a0011c0012t0002g0195a0013c0016t0001g0144a0013c0016t0010g0013others(10): Show | 13 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(10): Show |
intron_variant | MODIFIER | c.6790+3785C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130459451 | ||||||
| chr3:130459690
|
G | A | 4 | a0007c0064t0006g0038a0023c0021t0006g0002a0023c0021t0006g0080others(1): Show | 5 | HG00738.hp2 HG01123.hp1 HG01167.hp1 others(2): Show |
intron_variant | MODIFIER | c.6790+4024G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130459690 | ||||||
| chr3:130459725
|
A | AT | 63 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(60): Show | 67 | HG00408.hp2 HG00609.hp1 HG00621.hp1 others(64): Show |
intron_variant | MODIFIER | c.6790+4069dupT | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | INFO_REALIGN_3_PRIME | chr3 | 130459725 | |||||
| chr3:130460060
|
C | T | 3 | a0036c0030t0002g0212a0036c0030t0002g0213a0089c0102t0005g0056 | 3 | HG02109.hp2 HG02895.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.6790+4394C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130460060 | ||||||
| chr3:130460174
|
A | G | 1 | a0052c0101t0003g0061 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.6790+4508A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130460174 | ||||||
| chr3:130460403
|
G | A | 1 | a0011c0012t0003g0089 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.6790+4737G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130460403 | ||||||
| chr3:130460887
|
G | A | 1 | a0062c0054t0001g0160 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.6790+5221G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130460887 | ||||||
| chr3:130460967
|
G | T | 1 | a0005c0006t0004g0048 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.6790+5301G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130460967 | ||||||
| chr3:130461083
|
G | C | 219 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(216): Show | 228 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(225): Show |
intron_variant | MODIFIER | c.6790+5417G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130461083 | ||||||
| chr3:130461122
|
G | C | 133 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(130): Show | 138 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(135): Show |
intron_variant | MODIFIER | c.6790+5456G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130461122 | ||||||
| chr3:130461564
|
C | T | 14 | a0011c0012t0002g0195a0013c0016t0001g0144a0013c0016t0010g0013others(11): Show | 14 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(11): Show |
intron_variant | MODIFIER | c.6790+5898C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130461564 | ||||||
| chr3:130461763
|
CT | C | 92 | a0001c0001t0002g0243a0001c0001t0002g0244a0001c0001t0002g0251others(89): Show | 96 | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(93): Show |
intron_variant | MODIFIER | c.6790+6109delT | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | INFO_REALIGN_3_PRIME | chr3 | 130461763 | |||||
| chr3:130461774
|
T | A | 2 | a0014c0013t0001g0143a0014c0013t0001g0145 | 2 | NA18989.hp2 NA19080.hp1 |
intron_variant | MODIFIER | c.6790+6108T>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130461774 | ||||||
| chr3:130461775
|
T | A | 56 | a0001c0001t0002g0256a0001c0001t0002g0265a0001c0014t0002g0255others(53): Show | 57 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(54): Show |
intron_variant | MODIFIER | c.6790+6109T>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130461775 | ||||||
| chr3:130461775
|
TA | T | 10 | a0006c0005t0002g0230a0012c0011t0002g0202a0012c0011t0002g0203others(7): Show | 10 | HG00544.hp2 HG00597.hp1 HG01069.hp2 others(7): Show |
intron_variant | MODIFIER | c.6790+6117delA | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | INFO_REALIGN_3_PRIME | chr3 | 130461775 | |||||
| chr3:130461776
|
A | T | 2 | a0005c0006t0004g0048a0006c0005t0002g0228 | 2 | HG01071.hp1 NA19004.hp2 |
intron_variant | MODIFIER | c.6790+6110A>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130461776 | ||||||
| chr3:130461790
|
T | C | 4 | a0007c0064t0006g0038a0023c0021t0006g0002a0023c0021t0006g0080others(1): Show | 5 | HG00738.hp2 HG01123.hp1 HG01167.hp1 others(2): Show |
intron_variant | MODIFIER | c.6790+6124T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130461790 | ||||||
| chr3:130462004
|
A | C | 72 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(69): Show | 75 | HG00408.hp2 HG00438.hp1 HG00544.hp2 others(72): Show |
intron_variant | MODIFIER | c.6790+6338A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130462004 | ||||||
| chr3:130462208
|
C | T | 4 | a0007c0064t0006g0038a0023c0021t0006g0002a0023c0021t0006g0080others(1): Show | 5 | HG00738.hp2 HG01123.hp1 HG01167.hp1 others(2): Show |
intron_variant | MODIFIER | c.6790+6542C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130462208 | ||||||
| chr3:130462324
|
C | T | 6 | a0001c0001t0002g0265a0007c0064t0006g0038a0023c0021t0006g0002others(3): Show | 7 | HG00738.hp2 HG01081.hp2 HG01123.hp1 others(4): Show |
intron_variant | MODIFIER | c.6791-6471C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130462324 | ||||||
| chr3:130462743
|
A | G | 161 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(158): Show | 166 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(163): Show |
intron_variant | MODIFIER | c.6791-6052A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130462743 | ||||||
| chr3:130462800
|
A | G | 2 | a0043c0104t0002g0092a0059c0073t0003g0040 | 2 | HG02109.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.6791-5995A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130462800 | ||||||
| chr3:130462972
|
T | C | 2 | a0012c0011t0002g0205a0012c0011t0002g0206 | 2 | HG00544.hp2 NA19080.hp2 |
intron_variant | MODIFIER | c.6791-5823T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130462972 | ||||||
| chr3:130463050
|
T | C | 1 | a0001c0014t0002g0238 | 1 | NA18972.hp2 | intron_variant | MODIFIER | c.6791-5745T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130463050 | ||||||
| chr3:130463107
|
C | T | 1 | a0038c0043t0003g0079 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.6791-5688C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130463107 | ||||||
| chr3:130463221
|
C | A | 4 | a0007c0064t0006g0038a0023c0021t0006g0002a0023c0021t0006g0080others(1): Show | 5 | HG00738.hp2 HG01123.hp1 HG01167.hp1 others(2): Show |
intron_variant | MODIFIER | c.6791-5574C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130463221 | ||||||
| chr3:130463328
|
CA | C | 69 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(66): Show | 71 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(68): Show |
intron_variant | MODIFIER | c.6791-5464delA | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | INFO_REALIGN_3_PRIME | chr3 | 130463328 | |||||
| chr3:130463385
|
A | G | 1 | a0006c0005t0003g0039 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.6791-5410A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130463385 | ||||||
| chr3:130463427
|
G | A | 25 | a0003c0004t0001g0018a0003c0004t0001g0019a0003c0004t0001g0020others(22): Show | 25 | HG01891.hp1 HG01975.hp1 HG01993.hp2 others(22): Show |
intron_variant | MODIFIER | c.6791-5368G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130463427 | ||||||
| chr3:130463479
|
G | A | 3 | a0036c0030t0002g0212a0036c0030t0002g0213a0089c0102t0005g0056 | 3 | HG02109.hp2 HG02895.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.6791-5316G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130463479 | ||||||
| chr3:130463508
|
T | C | 3 | a0029c0088t0014g0088a0031c0037t0004g0037a0031c0037t0013g0035 | 3 | HG02717.hp2 HG03209.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.6791-5287T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130463508 | ||||||
| chr3:130463513
|
T | G | 1 | a0079c0063t0003g0215 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.6791-5282T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130463513 | ||||||
| chr3:130463576
|
C | T | 2 | a0001c0040t0002g0240a0001c0040t0002g0241 | 2 | HG01358.hp1 HG01978.hp2 |
intron_variant | MODIFIER | c.6791-5219C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130463576 | ||||||
| chr3:130463595
|
C | A | 4 | a0007c0064t0006g0038a0023c0021t0006g0002a0023c0021t0006g0080others(1): Show | 5 | HG00738.hp2 HG01123.hp1 HG01167.hp1 others(2): Show |
intron_variant | MODIFIER | c.6791-5200C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130463595 | ||||||
| chr3:130463782
|
A | C | 1 | a0082c0045t0001g0118 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.6791-5013A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130463782 | ||||||
| chr3:130463787
|
T | A | 12 | a0007c0008t0003g0001a0007c0008t0003g0062a0007c0008t0003g0063others(9): Show | 14 | HG00733.hp1 HG01256.hp1 HG01256.hp2 others(11): Show |
intron_variant | MODIFIER | c.6791-5008T>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130463787 | ||||||
| chr3:130463868
|
T | A | 3 | a0006c0005t0002g0008a0074c0106t0003g0078a0087c0076t0001g0274 | 4 | HG02922.hp1 HG02965.hp2 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.6791-4927T>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130463868 | ||||||
| chr3:130463941
|
G | A | 1 | a0019c0017t0003g0277 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.6791-4854G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130463941 | ||||||
| chr3:130463949
|
A | T | 7 | a0016c0020t0001g0171a0016c0020t0001g0272a0016c0020t0001g0273others(4): Show | 7 | HG01109.hp2 HG01891.hp2 HG02280.hp2 others(4): Show |
intron_variant | MODIFIER | c.6791-4846A>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130463949 | ||||||
| chr3:130464233
|
G | A | 1 | a0001c0001t0002g0219 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.6791-4562G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130464233 | ||||||
| chr3:130464326
|
G | A | 23 | a0011c0012t0003g0083a0011c0012t0003g0084a0011c0012t0003g0085others(20): Show | 23 | HG00544.hp2 HG00597.hp1 HG02083.hp1 others(20): Show |
intron_variant | MODIFIER | c.6791-4469G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130464326 | ||||||
| chr3:130464329
|
C | T | 1 | a0044c0105t0006g0214 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.6791-4466C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130464329 | ||||||
| chr3:130464504
|
AAC | A | 4 | a0007c0064t0006g0038a0023c0021t0006g0002a0023c0021t0006g0080others(1): Show | 5 | HG00738.hp2 HG01123.hp1 HG01167.hp1 others(2): Show |
intron_variant | MODIFIER | c.6791-4289_6791-428 others(6): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | INFO_REALIGN_3_PRIME | chr3 | 130464504 | |||||
| chr3:130464732
|
T | A | 2 | a0037c0032t0001g0181a0045c0077t0001g0176 | 2 | HG02572.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.6791-4063T>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130464732 | ||||||
| chr3:130464776
|
G | A | 1 | a0009c0009t0002g0100 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.6791-4019G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130464776 | ||||||
| chr3:130464833
|
C | G | 1 | a0061c0053t0001g0175 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.6791-3962C>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130464833 | ||||||
| chr3:130464901
|
T | A | 1 | a0011c0012t0002g0195 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.6791-3894T>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130464901 | ||||||
| chr3:130465053
|
G | A | 4 | a0007c0064t0006g0038a0023c0021t0006g0002a0023c0021t0006g0080others(1): Show | 5 | HG00738.hp2 HG01123.hp1 HG01167.hp1 others(2): Show |
intron_variant | MODIFIER | c.6791-3742G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130465053 | ||||||
| chr3:130465579
|
C | T | 14 | a0011c0012t0002g0195a0013c0016t0001g0144a0013c0016t0010g0013others(11): Show | 14 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(11): Show |
intron_variant | MODIFIER | c.6791-3216C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130465579 | ||||||
| chr3:130465601
|
A | G | 3 | a0007c0064t0006g0038a0023c0021t0006g0002a0023c0021t0006g0080 | 4 | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(1): Show |
intron_variant | MODIFIER | c.6791-3194A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130465601 | ||||||
| chr3:130465948
|
A | T | 69 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(66): Show | 71 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(68): Show |
intron_variant | MODIFIER | c.6791-2847A>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130465948 | ||||||
| chr3:130465961
|
CA | C | 4 | a0007c0064t0006g0038a0023c0021t0006g0002a0023c0021t0006g0080others(1): Show | 5 | HG00738.hp2 HG01123.hp1 HG01167.hp1 others(2): Show |
intron_variant | MODIFIER | c.6791-2831delA | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | INFO_REALIGN_3_PRIME | chr3 | 130465961 | |||||
| chr3:130466073
|
T | C | 1 | a0002c0047t0001g0111 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.6791-2722T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130466073 | ||||||
| chr3:130466684
|
C | A | 1 | a0012c0011t0002g0203 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.6791-2111C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130466684 | ||||||
| chr3:130466694
|
A | T | 4 | a0007c0064t0006g0038a0023c0021t0006g0002a0023c0021t0006g0080others(1): Show | 5 | HG00738.hp2 HG01123.hp1 HG01167.hp1 others(2): Show |
intron_variant | MODIFIER | c.6791-2101A>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130466694 | ||||||
| chr3:130466907
|
A | G | 3 | a0007c0064t0006g0038a0023c0021t0006g0002a0023c0021t0006g0080 | 4 | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(1): Show |
intron_variant | MODIFIER | c.6791-1888A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130466907 | ||||||
| chr3:130467067
|
G | T | 14 | a0011c0012t0002g0195a0013c0016t0001g0144a0013c0016t0010g0013others(11): Show | 14 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(11): Show |
intron_variant | MODIFIER | c.6791-1728G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130467067 | ||||||
| chr3:130467219
|
C | G | 1 | a0031c0037t0004g0037 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.6791-1576C>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130467219 | ||||||
| chr3:130467219
|
C | T | 1 | a0051c0085t0003g0082 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.6791-1576C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130467219 | ||||||
| chr3:130467267
|
G | A | 12 | a0007c0008t0003g0001a0007c0008t0003g0062a0007c0008t0003g0063others(9): Show | 14 | HG00733.hp1 HG01256.hp1 HG01256.hp2 others(11): Show |
intron_variant | MODIFIER | c.6791-1528G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130467267 | ||||||
| chr3:130467459
|
C | G | 1 | a0001c0001t0001g0186 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.6791-1336C>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130467459 | ||||||
| chr3:130467568
|
G | T | 2 | a0042c0103t0002g0091a0063c0055t0001g0116 | 2 | HG02647.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.6791-1227G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130467568 | ||||||
| chr3:130467790
|
T | TATCTAAT others(9): Show |
2 | a0007c0008t0003g0066a0070c0070t0003g0064 | 2 | HG00733.hp1 HG01358.hp2 |
intron_variant | MODIFIER | c.6791-1003_6791-988 others(19): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | INFO_REALIGN_3_PRIME | chr3 | 130467790 | |||||
| chr3:130467845
|
A | G | 1 | a0004c0003t0002g0236 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.6791-950A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130467845 | ||||||
| chr3:130467874
|
A | G | 1 | a0029c0087t0006g0076 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.6791-921A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130467874 | ||||||
| chr3:130467993
|
A | T | 4 | a0007c0064t0006g0038a0023c0021t0006g0002a0023c0021t0006g0080others(1): Show | 5 | HG00738.hp2 HG01123.hp1 HG01167.hp1 others(2): Show |
intron_variant | MODIFIER | c.6791-802A>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130467993 | ||||||
| chr3:130468437
|
C | T | 4 | a0001c0001t0002g0010a0001c0001t0002g0235a0035c0028t0001g0099others(1): Show | 5 | HG01070.hp1 HG01071.hp2 HG01081.hp1 others(2): Show |
intron_variant | MODIFIER | c.6791-358C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130468437 | ||||||
| chr3:130468476
|
T | C | 2 | a0012c0011t0002g0208a0012c0011t0002g0209 | 2 | HG00597.hp1 NA19005.hp2 |
intron_variant | MODIFIER | c.6791-319T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130468476 | ||||||
| chr3:130468516
|
G | A | 1 | a0083c0046t0007g0033 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.6791-279G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130468516 | ||||||
| chr3:130468614
|
C | T | 1 | a0001c0001t0002g0198 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.6791-181C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130468614 | ||||||
| chr3:130468658
|
AT | A | 7 | a0016c0020t0001g0171a0016c0020t0001g0272a0016c0020t0001g0273others(4): Show | 7 | HG01109.hp2 HG01891.hp2 HG02280.hp2 others(4): Show |
intron_variant | MODIFIER | c.6791-136delT | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130468658 | ||||||
| chr3:130468708
|
C | T | 1 | a0001c0001t0002g0224 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.6791-87C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130468708 | ||||||
| chr3:130468717
|
G | A | 11 | a0019c0017t0001g0153a0019c0017t0003g0277a0019c0017t0003g0278others(8): Show | 11 | HG00639.hp1 HG02109.hp1 HG02809.hp1 others(8): Show |
intron_variant | MODIFIER | c.6791-78G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 37/40 | chr3 | 130468717 | ||||||
| chr3:130469759
|
A | G | 1 | a0079c0063t0003g0215 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.7477+278A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 38/40 | chr3 | 130469759 | ||||||
| chr3:130470179
|
G | A | 1 | a0004c0003t0002g0194 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.7478-692G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 38/40 | chr3 | 130470179 | ||||||
| chr3:130470270
|
G | A | 1 | a0019c0017t0003g0277 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.7478-601G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 38/40 | chr3 | 130470270 | ||||||
| chr3:130470304
|
T | A | 187 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(184): Show | 191 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(188): Show |
intron_variant | MODIFIER | c.7478-567T>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 38/40 | chr3 | 130470304 | ||||||
| chr3:130470398
|
G | T | 1 | a0037c0032t0005g0057 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.7478-473G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 38/40 | chr3 | 130470398 | ||||||
| chr3:130470538
|
T | A | 1 | a0031c0037t0013g0035 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.7478-333T>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 38/40 | chr3 | 130470538 | ||||||
| chr3:130470607
|
G | A | 14 | a0011c0012t0002g0195a0013c0016t0001g0144a0013c0016t0010g0013others(11): Show | 14 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(11): Show |
intron_variant | MODIFIER | c.7478-264G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 38/40 | chr3 | 130470607 | ||||||
| chr3:130471010
|
A | G | 12 | a0011c0012t0003g0083a0011c0012t0003g0084a0011c0012t0003g0085others(9): Show | 12 | HG02572.hp1 HG02572.hp2 HG02622.hp1 others(9): Show |
intron_variant | MODIFIER | c.7574+43A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 39/40 | chr3 | 130471010 | ||||||
| chr3:130471074
|
T | TTG | 108 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(105): Show | 111 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(108): Show |
intron_variant | MODIFIER | c.7574+133_7574+134d others(4): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 39/40 | INFO_REALIGN_3_PRIME | chr3 | 130471074 | |||||
| chr3:130471074
|
T | TTGTG | 6 | a0001c0001t0002g0237a0001c0001t0003g0086a0003c0004t0001g0147others(3): Show | 6 | HG01243.hp2 HG02922.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.7574+131_7574+134d others(6): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 39/40 | INFO_REALIGN_3_PRIME | chr3 | 130471074 | |||||
| chr3:130471074
|
TTG | T | 19 | a0011c0012t0003g0083a0011c0012t0003g0084a0011c0012t0003g0085others(16): Show | 19 | HG01109.hp2 HG01891.hp2 HG02280.hp2 others(16): Show |
intron_variant | MODIFIER | c.7574+133_7574+134d others(4): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 39/40 | INFO_REALIGN_3_PRIME | chr3 | 130471074 | |||||
| chr3:130471074
|
TTGTG | T | 17 | a0002c0002t0001g0103a0002c0002t0001g0129a0002c0002t0002g0227others(14): Show | 17 | HG00544.hp2 HG00597.hp1 HG00735.hp2 others(14): Show |
intron_variant | MODIFIER | c.7574+131_7574+134d others(6): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 39/40 | INFO_REALIGN_3_PRIME | chr3 | 130471074 | |||||
| chr3:130471078
|
G | T | 12 | a0011c0012t0003g0083a0011c0012t0003g0084a0011c0012t0003g0085others(9): Show | 12 | HG02572.hp1 HG02572.hp2 HG02622.hp1 others(9): Show |
intron_variant | MODIFIER | c.7574+111G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 39/40 | chr3 | 130471078 | ||||||
| chr3:130471130
|
C | T | 2 | a0001c0001t0002g0237a0001c0001t0003g0086 | 2 | HG01243.hp2 HG02970.hp2 |
intron_variant | MODIFIER | c.7574+163C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 39/40 | chr3 | 130471130 | ||||||
| chr3:130471182
|
T | A | 157 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(154): Show | 161 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(158): Show |
intron_variant | MODIFIER | c.7574+215T>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 39/40 | chr3 | 130471182 | ||||||
| chr3:130471212
|
G | A | 157 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(154): Show | 161 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(158): Show |
intron_variant | MODIFIER | c.7574+245G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 39/40 | chr3 | 130471212 | ||||||
| chr3:130471274
|
A | G | 153 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(150): Show | 156 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(153): Show |
intron_variant | MODIFIER | c.7574+307A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 39/40 | chr3 | 130471274 | ||||||
| chr3:130471359
|
T | C | 1 | a0044c0105t0006g0214 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.7575-323T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 39/40 | chr3 | 130471359 | ||||||
| chr3:130471530
|
G | T | 153 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(150): Show | 156 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(153): Show |
intron_variant | MODIFIER | c.7575-152G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 39/40 | chr3 | 130471530 | ||||||
| chr3:130471931
|
T | C | 3 | a0018c0018t0005g0053a0018c0018t0005g0054a0018c0018t0005g0055 | 3 | HG02572.hp2 HG02809.hp2 HG02965.hp1 |
splice_region_variant&intron_variant | LOW | c.7819+5T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130471931 | ||||||
| chr3:130471933
|
G | A | 202 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(199): Show | 208 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(205): Show |
splice_region_variant&intron_variant | LOW | c.7819+7G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130471933 | ||||||
| chr3:130471943
|
T | C | 2 | a0006c0005t0002g0228a0006c0005t0002g0230 | 2 | HG01069.hp2 HG01071.hp1 |
intron_variant | MODIFIER | c.7819+17T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130471943 | ||||||
| chr3:130472144
|
C | G | 12 | a0007c0008t0003g0001a0007c0008t0003g0062a0007c0008t0003g0063others(9): Show | 14 | HG00733.hp1 HG01256.hp1 HG01256.hp2 others(11): Show |
intron_variant | MODIFIER | c.7819+218C>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130472144 | ||||||
| chr3:130472316
|
G | A | 1 | a0022c0024t0002g0102 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.7819+390G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130472316 | ||||||
| chr3:130472605
|
G | A | 255 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(252): Show | 264 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(261): Show |
intron_variant | MODIFIER | c.7819+679G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130472605 | ||||||
| chr3:130472699
|
G | A | 12 | a0007c0008t0003g0001a0007c0008t0003g0062a0007c0008t0003g0063others(9): Show | 14 | HG00733.hp1 HG01256.hp1 HG01256.hp2 others(11): Show |
intron_variant | MODIFIER | c.7819+773G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130472699 | ||||||
| chr3:130472827
|
G | GTATATAT others(9): Show |
1 | a0038c0043t0001g0183 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.7819+905_7819+906i others(18): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | INFO_REALIGN_3_PRIME | chr3 | 130472827 | |||||
| chr3:130472832
|
C | CACATATA others(9): Show |
1 | a0059c0073t0003g0040 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.7819+907_7819+908i others(18): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | INFO_REALIGN_3_PRIME | chr3 | 130472832 | |||||
| chr3:130472832
|
C | CAT | 16 | a0001c0001t0002g0010a0001c0001t0002g0235a0006c0005t0002g0008others(13): Show | 18 | HG01070.hp1 HG01071.hp2 HG01255.hp1 others(15): Show |
intron_variant | MODIFIER | c.7819+932_7819+933d others(4): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | INFO_REALIGN_3_PRIME | chr3 | 130472832 | |||||
| chr3:130472832
|
C | CATAT | 16 | a0001c0001t0001g0106a0001c0001t0002g0225a0001c0001t0002g0233others(13): Show | 16 | HG01069.hp2 HG01071.hp1 HG01074.hp2 others(13): Show |
intron_variant | MODIFIER | c.7819+930_7819+933d others(6): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | INFO_REALIGN_3_PRIME | chr3 | 130472832 | |||||
| chr3:130472832
|
C | CATATAT | 18 | a0001c0001t0002g0224a0001c0001t0002g0234a0001c0001t0002g0239others(15): Show | 18 | HG00280.hp2 HG00733.hp2 HG01261.hp1 others(15): Show |
intron_variant | MODIFIER | c.7819+928_7819+933d others(8): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | INFO_REALIGN_3_PRIME | chr3 | 130472832 | |||||
| chr3:130472832
|
C | CATATATA others(1): Show |
15 | a0001c0001t0001g0186a0001c0001t0002g0220a0001c0001t0002g0243others(12): Show | 15 | HG01081.hp1 HG01243.hp1 HG01358.hp1 others(12): Show |
intron_variant | MODIFIER | c.7819+926_7819+933d others(10): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | INFO_REALIGN_3_PRIME | chr3 | 130472832 | |||||
| chr3:130472832
|
C | CATATATA others(3): Show |
12 | a0001c0001t0002g0223a0001c0001t0002g0237a0003c0004t0001g0020others(9): Show | 13 | HG00609.hp1 HG00621.hp1 HG01167.hp2 others(10): Show |
intron_variant | MODIFIER | c.7819+924_7819+933d others(12): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | INFO_REALIGN_3_PRIME | chr3 | 130472832 | |||||
| chr3:130472832
|
C | CATATATA others(5): Show |
23 | a0001c0001t0002g0219a0001c0001t0002g0247a0002c0002t0001g0110others(20): Show | 24 | HG00280.hp1 HG00408.hp1 HG00438.hp2 others(21): Show |
intron_variant | MODIFIER | c.7819+922_7819+933d others(14): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | INFO_REALIGN_3_PRIME | chr3 | 130472832 | |||||
| chr3:130472832
|
C | CATATATA others(7): Show |
32 | a0001c0001t0002g0198a0001c0001t0002g0242a0001c0001t0002g0246others(29): Show | 32 | HG00140.hp1 HG00408.hp2 HG00639.hp1 others(29): Show |
intron_variant | MODIFIER | c.7819+920_7819+933d others(16): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | INFO_REALIGN_3_PRIME | chr3 | 130472832 | |||||
| chr3:130472832
|
C | CATATATA others(9): Show |
34 | a0001c0001t0002g0189a0001c0001t0002g0222a0002c0002t0001g0121others(31): Show | 37 | HG00544.hp1 HG00597.hp2 HG01106.hp2 others(34): Show |
intron_variant | MODIFIER | c.7819+918_7819+933d others(18): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | INFO_REALIGN_3_PRIME | chr3 | 130472832 | |||||
| chr3:130472832
|
C | CATATATA others(11): Show |
31 | a0001c0001t0002g0256a0001c0001t0002g0265a0002c0002t0001g0004others(28): Show | 32 | HG00438.hp1 HG00735.hp2 HG01081.hp2 others(29): Show |
intron_variant | MODIFIER | c.7819+916_7819+933d others(20): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | INFO_REALIGN_3_PRIME | chr3 | 130472832 | |||||
| chr3:130472832
|
C | CATATATA others(13): Show |
18 | a0001c0001t0002g0190a0001c0001t0002g0191a0001c0001t0002g0258others(15): Show | 19 | HG00639.hp2 HG00738.hp2 HG01169.hp1 others(16): Show |
intron_variant | MODIFIER | c.7819+914_7819+933d others(22): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | INFO_REALIGN_3_PRIME | chr3 | 130472832 | |||||
| chr3:130472832
|
C | CATATATA others(15): Show |
3 | a0001c0001t0002g0259a0004c0003t0001g0027a0011c0012t0003g0083 | 3 | HG00642.hp1 HG03139.hp1 NA18990.hp1 |
intron_variant | MODIFIER | c.7819+912_7819+933d others(24): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | INFO_REALIGN_3_PRIME | chr3 | 130472832 | |||||
| chr3:130472832
|
C | CATATATA others(23): Show |
1 | a0011c0012t0003g0084 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.7819+933_7819+934i others(32): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | INFO_REALIGN_3_PRIME | chr3 | 130472832 | |||||
| chr3:130472832
|
C | T | 1 | a0038c0043t0001g0183 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.7819+906C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130472832 | ||||||
| chr3:130472832
|
CAT | C | 31 | a0005c0006t0004g0044a0005c0006t0004g0048a0005c0006t0004g0049others(28): Show | 32 | HG00597.hp1 HG00609.hp2 HG01069.hp1 others(29): Show |
intron_variant | MODIFIER | c.7819+932_7819+933d others(4): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | INFO_REALIGN_3_PRIME | chr3 | 130472832 | |||||
| chr3:130472832
|
CATATATA others(1): Show |
C | 4 | a0029c0088t0014g0088a0031c0037t0004g0037a0031c0037t0013g0035others(1): Show | 4 | HG01981.hp1 HG02717.hp2 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.7819+926_7819+933d others(10): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | INFO_REALIGN_3_PRIME | chr3 | 130472832 | |||||
| chr3:130472856
|
T | C | 1 | a0079c0063t0003g0215 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.7819+930T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130472856 | ||||||
| chr3:130472858
|
T | C | 7 | a0016c0020t0001g0171a0016c0020t0001g0272a0016c0020t0001g0273others(4): Show | 7 | HG01109.hp2 HG01891.hp2 HG02280.hp2 others(4): Show |
intron_variant | MODIFIER | c.7819+932T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130472858 | ||||||
| chr3:130472858
|
T | TATATATA others(3): Show |
1 | a0062c0054t0001g0160 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.7819+933_7819+934i others(12): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | INFO_REALIGN_3_PRIME | chr3 | 130472858 | |||||
| chr3:130472858
|
T | TATATATA others(13): Show |
1 | a0088c0051t0001g0137 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.7819+933_7819+934i others(22): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | INFO_REALIGN_3_PRIME | chr3 | 130472858 | |||||
| chr3:130473186
|
T | G | 12 | a0011c0012t0003g0083a0011c0012t0003g0084a0011c0012t0003g0085others(9): Show | 12 | HG02572.hp1 HG02572.hp2 HG02622.hp1 others(9): Show |
intron_variant | MODIFIER | c.7819+1260T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130473186 | ||||||
| chr3:130473188
|
A | G | 32 | a0003c0004t0001g0018a0003c0004t0001g0019a0003c0004t0001g0020others(29): Show | 32 | HG00735.hp2 HG01891.hp1 HG01975.hp1 others(29): Show |
intron_variant | MODIFIER | c.7819+1262A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130473188 | ||||||
| chr3:130473355
|
A | G | 4 | a0007c0064t0006g0038a0023c0021t0006g0002a0023c0021t0006g0080others(1): Show | 5 | HG00738.hp2 HG01123.hp1 HG01167.hp1 others(2): Show |
intron_variant | MODIFIER | c.7819+1429A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130473355 | ||||||
| chr3:130473416
|
A | G | 248 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(245): Show | 257 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(254): Show |
intron_variant | MODIFIER | c.7819+1490A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130473416 | ||||||
| chr3:130473489
|
A | G | 4 | a0030c0035t0001g0217a0030c0035t0001g0218a0052c0101t0003g0061others(1): Show | 4 | HG01243.hp1 HG03041.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.7819+1563A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130473489 | ||||||
| chr3:130473490
|
G | A | 1 | a0003c0004t0002g0221 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.7819+1564G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130473490 | ||||||
| chr3:130473575
|
T | C | 4 | a0007c0064t0006g0038a0023c0021t0006g0002a0023c0021t0006g0080others(1): Show | 5 | HG00738.hp2 HG01123.hp1 HG01167.hp1 others(2): Show |
intron_variant | MODIFIER | c.7819+1649T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130473575 | ||||||
| chr3:130473715
|
A | G | 1 | a0003c0004t0001g0179 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.7819+1789A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130473715 | ||||||
| chr3:130473780
|
C | T | 101 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(98): Show | 104 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(101): Show |
intron_variant | MODIFIER | c.7819+1854C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130473780 | ||||||
| chr3:130473793
|
T | C | 4 | a0030c0035t0001g0217a0030c0035t0001g0218a0052c0101t0003g0061others(1): Show | 4 | HG01243.hp1 HG03041.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.7819+1867T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130473793 | ||||||
| chr3:130474161
|
A | C | 37 | a0003c0004t0001g0018a0003c0004t0001g0019a0003c0004t0001g0020others(34): Show | 39 | HG00733.hp1 HG01256.hp1 HG01256.hp2 others(36): Show |
intron_variant | MODIFIER | c.7819+2235A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130474161 | ||||||
| chr3:130474166
|
G | T | 52 | a0003c0004t0001g0018a0003c0004t0001g0019a0003c0004t0001g0020others(49): Show | 54 | HG00140.hp2 HG00733.hp1 HG00735.hp2 others(51): Show |
intron_variant | MODIFIER | c.7819+2240G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130474166 | ||||||
| chr3:130474329
|
A | T | 2 | a0001c0001t0002g0258a0001c0001t0002g0259 | 2 | HG00642.hp1 HG01192.hp2 |
intron_variant | MODIFIER | c.7819+2403A>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130474329 | ||||||
| chr3:130474497
|
G | A | 1 | a0002c0034t0002g0231 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.7819+2571G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130474497 | ||||||
| chr3:130474647
|
A | G | 4 | a0007c0064t0006g0038a0023c0021t0006g0002a0023c0021t0006g0080others(1): Show | 5 | HG00738.hp2 HG01123.hp1 HG01167.hp1 others(2): Show |
intron_variant | MODIFIER | c.7819+2721A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130474647 | ||||||
| chr3:130474856
|
AG | A | 12 | a0007c0008t0003g0001a0007c0008t0003g0062a0007c0008t0003g0063others(9): Show | 14 | HG00733.hp1 HG01256.hp1 HG01256.hp2 others(11): Show |
intron_variant | MODIFIER | c.7819+2931delG | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130474856 | ||||||
| chr3:130474865
|
T | C | 1 | a0012c0011t0002g0209 | 1 | NA19005.hp2 | intron_variant | MODIFIER | c.7819+2939T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130474865 | ||||||
| chr3:130474922
|
G | T | 1 | a0004c0003t0001g0022 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.7819+2996G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130474922 | ||||||
| chr3:130474960
|
T | C | 1 | a0062c0054t0001g0160 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.7819+3034T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130474960 | ||||||
| chr3:130474983
|
GGCAACAG others(26): Show |
G | 1 | a0009c0009t0002g0097 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.7819+3058_7819+309 others(37): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130474983 | ||||||
| chr3:130475007
|
C | CA | 105 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(102): Show | 109 | HG00544.hp2 HG00597.hp1 HG00621.hp1 others(106): Show |
intron_variant | MODIFIER | c.7819+3104dupA | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | INFO_REALIGN_3_PRIME | chr3 | 130475007 | |||||
| chr3:130475007
|
C | CAA | 12 | a0003c0004t0001g0019a0007c0008t0003g0062a0012c0011t0005g0043others(9): Show | 14 | HG00408.hp2 HG00438.hp1 HG00738.hp2 others(11): Show |
intron_variant | MODIFIER | c.7819+3103_7819+310 others(6): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | INFO_REALIGN_3_PRIME | chr3 | 130475007 | |||||
| chr3:130475007
|
CA | C | 8 | a0016c0020t0001g0171a0016c0020t0001g0272a0016c0020t0001g0273others(5): Show | 8 | HG01109.hp2 HG01891.hp2 HG02280.hp2 others(5): Show |
intron_variant | MODIFIER | c.7819+3104delA | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | INFO_REALIGN_3_PRIME | chr3 | 130475007 | |||||
| chr3:130475007
|
CAAAAAAA | C | 14 | a0011c0012t0002g0195a0013c0016t0001g0144a0013c0016t0010g0013others(11): Show | 14 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(11): Show |
intron_variant | MODIFIER | c.7819+3098_7819+310 others(11): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | INFO_REALIGN_3_PRIME | chr3 | 130475007 | |||||
| chr3:130475026
|
AAAAAGG | A | 93 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(90): Show | 96 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(93): Show |
intron_variant | MODIFIER | c.7819+3106_7819+311 others(10): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | INFO_REALIGN_3_PRIME | chr3 | 130475026 | |||||
| chr3:130475031
|
GGAAAA | G | 4 | a0008c0010t0001g0141a0008c0010t0005g0045a0009c0009t0002g0097others(1): Show | 4 | HG00544.hp1 HG00597.hp2 HG01257.hp2 others(1): Show |
intron_variant | MODIFIER | c.7819+3121_7819+312 others(9): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | INFO_REALIGN_3_PRIME | chr3 | 130475031 | |||||
| chr3:130475036
|
A | G | 102 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(99): Show | 105 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(102): Show |
intron_variant | MODIFIER | c.7819+3110A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130475036 | ||||||
| chr3:130475116
|
C | T | 1 | a0008c0010t0001g0108 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.7819+3190C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130475116 | ||||||
| chr3:130475117
|
G | A | 14 | a0011c0012t0002g0195a0013c0016t0001g0144a0013c0016t0010g0013others(11): Show | 14 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(11): Show |
intron_variant | MODIFIER | c.7819+3191G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130475117 | ||||||
| chr3:130475205
|
A | C | 3 | a0036c0030t0002g0212a0036c0030t0002g0213a0089c0102t0005g0056 | 3 | HG02109.hp2 HG02895.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.7819+3279A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130475205 | ||||||
| chr3:130475221
|
T | A | 277 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(274): Show | 287 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(284): Show |
intron_variant | MODIFIER | c.7819+3295T>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130475221 | ||||||
| chr3:130475427
|
C | G | 1 | a0044c0105t0006g0214 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.7819+3501C>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130475427 | ||||||
| chr3:130475429
|
T | C | 1 | a0014c0013t0001g0143 | 1 | NA18989.hp2 | intron_variant | MODIFIER | c.7819+3503T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130475429 | ||||||
| chr3:130475475
|
G | T | 4 | a0007c0064t0006g0038a0023c0021t0006g0002a0023c0021t0006g0080others(1): Show | 5 | HG00738.hp2 HG01123.hp1 HG01167.hp1 others(2): Show |
intron_variant | MODIFIER | c.7819+3549G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130475475 | ||||||
| chr3:130475507
|
T | C | 3 | a0043c0104t0002g0092a0044c0105t0006g0214a0059c0073t0003g0040 | 3 | HG00735.hp2 HG02109.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.7819+3581T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130475507 | ||||||
| chr3:130475547
|
GA | G | 109 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(106): Show | 112 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(109): Show |
intron_variant | MODIFIER | c.7819+3622delA | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130475547 | ||||||
| chr3:130475609
|
C | T | 151 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(148): Show | 154 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(151): Show |
intron_variant | MODIFIER | c.7819+3683C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130475609 | ||||||
| chr3:130475794
|
A | G | 1 | a0002c0002t0002g0032 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.7819+3868A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130475794 | ||||||
| chr3:130475887
|
T | A | 102 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(99): Show | 107 | HG00408.hp2 HG00438.hp1 HG00544.hp2 others(104): Show |
intron_variant | MODIFIER | c.7819+3961T>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130475887 | ||||||
| chr3:130476046
|
A | G | 4 | a0013c0016t0010g0013a0013c0016t0010g0014a0013c0016t0010g0015others(1): Show | 4 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(1): Show |
intron_variant | MODIFIER | c.7819+4120A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130476046 | ||||||
| chr3:130476073
|
A | C | 28 | a0003c0004t0001g0018a0003c0004t0001g0019a0003c0004t0001g0020others(25): Show | 28 | HG01891.hp1 HG01975.hp1 HG01981.hp2 others(25): Show |
intron_variant | MODIFIER | c.7819+4147A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130476073 | ||||||
| chr3:130476191
|
A | G | 151 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(148): Show | 154 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(151): Show |
intron_variant | MODIFIER | c.7819+4265A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130476191 | ||||||
| chr3:130476258
|
T | G | 2 | a0014c0013t0001g0115a0014c0013t0001g0148 | 2 | NA18995.hp1 NA19083.hp1 |
intron_variant | MODIFIER | c.7819+4332T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130476258 | ||||||
| chr3:130476278
|
T | C | 2 | a0028c0036t0003g0075a0028c0036t0003g0077 | 2 | HG02970.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.7819+4352T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130476278 | ||||||
| chr3:130476405
|
G | A | 1 | a0011c0012t0003g0089 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.7819+4479G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130476405 | ||||||
| chr3:130476501
|
AT | A | 14 | a0011c0012t0002g0195a0013c0016t0001g0144a0013c0016t0010g0013others(11): Show | 14 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(11): Show |
intron_variant | MODIFIER | c.7819+4582delT | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | INFO_REALIGN_3_PRIME | chr3 | 130476501 | |||||
| chr3:130476530
|
A | G | 1 | a0072c0072t0001g0182 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.7819+4604A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130476530 | ||||||
| chr3:130476540
|
T | C | 1 | a0044c0105t0006g0214 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.7819+4614T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130476540 | ||||||
| chr3:130476630
|
G | A | 1 | a0025c0041t0001g0177 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.7819+4704G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130476630 | ||||||
| chr3:130476674
|
T | C | 12 | a0011c0012t0003g0083a0011c0012t0003g0084a0011c0012t0003g0085others(9): Show | 12 | HG02572.hp1 HG02572.hp2 HG02622.hp1 others(9): Show |
intron_variant | MODIFIER | c.7819+4748T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130476674 | ||||||
| chr3:130476726
|
A | G | 109 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(106): Show | 112 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(109): Show |
intron_variant | MODIFIER | c.7819+4800A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130476726 | ||||||
| chr3:130477073
|
T | G | 3 | a0004c0003t0001g0026a0004c0003t0001g0027a0004c0003t0001g0028 | 3 | HG02056.hp1 NA18990.hp1 NA19083.hp2 |
intron_variant | MODIFIER | c.7819+5147T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130477073 | ||||||
| chr3:130477106
|
C | T | 3 | a0010c0007t0001g0163a0010c0007t0001g0167a0057c0098t0002g0270 | 3 | HG02165.hp2 NA18952.hp1 NA19002.hp1 |
intron_variant | MODIFIER | c.7819+5180C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130477106 | ||||||
| chr3:130477139
|
C | A | 1 | a0047c0084t0002g0271 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.7819+5213C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130477139 | ||||||
| chr3:130477140
|
G | A | 1 | a0001c0001t0002g0266 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.7819+5214G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130477140 | ||||||
| chr3:130477140
|
G | T | 29 | a0011c0012t0003g0083a0011c0012t0003g0084a0011c0012t0003g0085others(26): Show | 29 | HG00544.hp2 HG00597.hp1 HG01243.hp1 others(26): Show |
intron_variant | MODIFIER | c.7819+5214G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130477140 | ||||||
| chr3:130477441
|
T | G | 5 | a0016c0020t0001g0171a0016c0020t0001g0272a0016c0020t0001g0273others(2): Show | 5 | HG01891.hp2 HG02615.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.7819+5515T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130477441 | ||||||
| chr3:130477489
|
A | G | 1 | a0026c0038t0002g0261 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.7819+5563A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130477489 | ||||||
| chr3:130477497
|
T | G | 12 | a0007c0008t0003g0001a0007c0008t0003g0062a0007c0008t0003g0063others(9): Show | 14 | HG00733.hp1 HG01256.hp1 HG01256.hp2 others(11): Show |
intron_variant | MODIFIER | c.7819+5571T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130477497 | ||||||
| chr3:130477683
|
C | A | 151 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(148): Show | 154 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(151): Show |
intron_variant | MODIFIER | c.7819+5757C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130477683 | ||||||
| chr3:130477683
|
C | T | 49 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(46): Show | 52 | HG00408.hp2 HG00438.hp1 HG00609.hp1 others(49): Show |
intron_variant | MODIFIER | c.7819+5757C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130477683 | ||||||
| chr3:130477816
|
C | A | 1 | a0043c0104t0002g0092 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.7819+5890C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130477816 | ||||||
| chr3:130477976
|
A | G | 109 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(106): Show | 112 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(109): Show |
intron_variant | MODIFIER | c.7819+6050A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130477976 | ||||||
| chr3:130478024
|
G | C | 2 | a0037c0032t0001g0181a0045c0077t0001g0176 | 2 | HG02572.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.7820-6011G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130478024 | ||||||
| chr3:130478069
|
T | C | 4 | a0007c0064t0006g0038a0023c0021t0006g0002a0023c0021t0006g0080others(1): Show | 5 | HG00738.hp2 HG01123.hp1 HG01167.hp1 others(2): Show |
intron_variant | MODIFIER | c.7820-5966T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130478069 | ||||||
| chr3:130478111
|
C | T | 42 | a0003c0004t0001g0018a0003c0004t0001g0019a0003c0004t0001g0020others(39): Show | 42 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(39): Show |
intron_variant | MODIFIER | c.7820-5924C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130478111 | ||||||
| chr3:130478569
|
C | A | 109 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(106): Show | 112 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(109): Show |
intron_variant | MODIFIER | c.7820-5466C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130478569 | ||||||
| chr3:130478694
|
A | AGGGGGGG others(26): Show |
1 | a0009c0009t0002g0097 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.7820-5340_7820-533 others(37): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | INFO_REALIGN_3_PRIME | chr3 | 130478694 | |||||
| chr3:130478696
|
T | G | 1 | a0009c0009t0002g0097 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.7820-5339T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130478696 | ||||||
| chr3:130479071
|
A | G | 1 | a0005c0006t0007g0007 | 2 | HG03490.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.7820-4964A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130479071 | ||||||
| chr3:130479250
|
A | G | 1 | a0033c0029t0001g0120 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.7820-4785A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130479250 | ||||||
| chr3:130479419
|
C | CAAAACA | 280 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(277): Show | 290 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(287): Show |
intron_variant | MODIFIER | c.7820-4601_7820-459 others(10): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | INFO_REALIGN_3_PRIME | chr3 | 130479419 | |||||
| chr3:130479485
|
C | A | 4 | a0007c0064t0006g0038a0023c0021t0006g0002a0023c0021t0006g0080others(1): Show | 5 | HG00738.hp2 HG01123.hp1 HG01167.hp1 others(2): Show |
intron_variant | MODIFIER | c.7820-4550C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130479485 | ||||||
| chr3:130479686
|
A | G | 111 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(108): Show | 115 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(112): Show |
intron_variant | MODIFIER | c.7820-4349A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130479686 | ||||||
| chr3:130479826
|
G | T | 2 | a0007c0008t0003g0062a0007c0008t0003g0063 | 2 | HG01257.hp1 HG01258.hp2 |
intron_variant | MODIFIER | c.7820-4209G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130479826 | ||||||
| chr3:130479999
|
C | T | 1 | a0002c0002t0001g0131 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.7820-4036C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130479999 | ||||||
| chr3:130480000
|
G | A | 14 | a0011c0012t0002g0195a0013c0016t0001g0144a0013c0016t0010g0013others(11): Show | 14 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(11): Show |
intron_variant | MODIFIER | c.7820-4035G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130480000 | ||||||
| chr3:130480023
|
A | C | 49 | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(46): Show | 52 | HG00408.hp2 HG00438.hp1 HG00609.hp1 others(49): Show |
intron_variant | MODIFIER | c.7820-4012A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130480023 | ||||||
| chr3:130480090
|
G | A | 3 | a0029c0088t0014g0088a0031c0037t0004g0037a0031c0037t0013g0035 | 3 | HG02717.hp2 HG03209.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.7820-3945G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130480090 | ||||||
| chr3:130480394
|
T | C | 7 | a0016c0020t0001g0171a0016c0020t0001g0272a0016c0020t0001g0273others(4): Show | 7 | HG01109.hp2 HG01891.hp2 HG02280.hp2 others(4): Show |
intron_variant | MODIFIER | c.7820-3641T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130480394 | ||||||
| chr3:130480430
|
T | G | 252 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(249): Show | 260 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(257): Show |
intron_variant | MODIFIER | c.7820-3605T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130480430 | ||||||
| chr3:130480490
|
A | C | 111 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(108): Show | 115 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(112): Show |
intron_variant | MODIFIER | c.7820-3545A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130480490 | ||||||
| chr3:130480691
|
T | C | 3 | a0029c0088t0014g0088a0031c0037t0004g0037a0031c0037t0013g0035 | 3 | HG02717.hp2 HG03209.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.7820-3344T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130480691 | ||||||
| chr3:130480894
|
A | G | 111 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(108): Show | 115 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(112): Show |
intron_variant | MODIFIER | c.7820-3141A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130480894 | ||||||
| chr3:130480932
|
G | A | 1 | a0008c0010t0001g0119 | 1 | NA19091.hp2 | intron_variant | MODIFIER | c.7820-3103G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130480932 | ||||||
| chr3:130481026
|
G | A | 252 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(249): Show | 260 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(257): Show |
intron_variant | MODIFIER | c.7820-3009G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130481026 | ||||||
| chr3:130481055
|
T | C | 1 | a0052c0101t0003g0061 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.7820-2980T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130481055 | ||||||
| chr3:130481111
|
T | C | 104 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(101): Show | 108 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(105): Show |
intron_variant | MODIFIER | c.7820-2924T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130481111 | ||||||
| chr3:130481140
|
A | G | 111 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(108): Show | 115 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(112): Show |
intron_variant | MODIFIER | c.7820-2895A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130481140 | ||||||
| chr3:130481210
|
C | A | 28 | a0003c0004t0001g0018a0003c0004t0001g0019a0003c0004t0001g0020others(25): Show | 28 | HG01891.hp1 HG01975.hp1 HG01981.hp2 others(25): Show |
intron_variant | MODIFIER | c.7820-2825C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130481210 | ||||||
| chr3:130481257
|
T | C | 10 | a0007c0008t0003g0001a0007c0008t0003g0062a0007c0008t0003g0063others(7): Show | 11 | HG00733.hp1 HG01256.hp1 HG01257.hp1 others(8): Show |
intron_variant | MODIFIER | c.7820-2778T>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130481257 | ||||||
| chr3:130481272
|
A | G | 13 | a0007c0008t0003g0001a0007c0008t0003g0062a0007c0008t0003g0063others(10): Show | 14 | HG00733.hp1 HG01256.hp1 HG01257.hp1 others(11): Show |
intron_variant | MODIFIER | c.7820-2763A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130481272 | ||||||
| chr3:130481345
|
C | A | 1 | a0014c0013t0001g0148 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.7820-2690C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130481345 | ||||||
| chr3:130481437
|
A | G | 14 | a0011c0012t0002g0195a0013c0016t0001g0144a0013c0016t0010g0013others(11): Show | 14 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(11): Show |
intron_variant | MODIFIER | c.7820-2598A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130481437 | ||||||
| chr3:130481615
|
C | T | 1 | a0010c0007t0001g0136 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.7820-2420C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130481615 | ||||||
| chr3:130481675
|
G | A | 2 | a0040c0042t0011g0074a0040c0042t0011g0090 | 2 | HG02809.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.7820-2360G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130481675 | ||||||
| chr3:130481693
|
C | T | 14 | a0011c0012t0002g0195a0013c0016t0001g0144a0013c0016t0010g0013others(11): Show | 14 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(11): Show |
intron_variant | MODIFIER | c.7820-2342C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130481693 | ||||||
| chr3:130481732
|
A | G | 277 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(274): Show | 287 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(284): Show |
intron_variant | MODIFIER | c.7820-2303A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130481732 | ||||||
| chr3:130481961
|
A | G | 9 | a0012c0011t0002g0202a0012c0011t0002g0203a0012c0011t0002g0205others(6): Show | 9 | HG00544.hp2 HG00597.hp1 HG02083.hp1 others(6): Show |
intron_variant | MODIFIER | c.7820-2074A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130481961 | ||||||
| chr3:130482047
|
T | G | 28 | a0003c0004t0001g0018a0003c0004t0001g0019a0003c0004t0001g0020others(25): Show | 28 | HG01891.hp1 HG01975.hp1 HG01981.hp2 others(25): Show |
intron_variant | MODIFIER | c.7820-1988T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130482047 | ||||||
| chr3:130482094
|
G | T | 3 | a0029c0088t0014g0088a0031c0037t0004g0037a0031c0037t0013g0035 | 3 | HG02717.hp2 HG03209.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.7820-1941G>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130482094 | ||||||
| chr3:130482230
|
T | G | 12 | a0012c0011t0002g0202a0012c0011t0002g0203a0012c0011t0002g0205others(9): Show | 12 | HG00544.hp2 HG00597.hp1 HG02083.hp1 others(9): Show |
intron_variant | MODIFIER | c.7820-1805T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130482230 | ||||||
| chr3:130482338
|
A | C | 1 | a0019c0017t0001g0153 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.7820-1697A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130482338 | ||||||
| chr3:130482365
|
CATTAT | C | 14 | a0011c0012t0002g0195a0013c0016t0001g0144a0013c0016t0010g0013others(11): Show | 14 | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(11): Show |
intron_variant | MODIFIER | c.7820-1669_7820-166 others(9): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130482365 | ||||||
| chr3:130482402
|
A | G | 1 | a0019c0017t0001g0153 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.7820-1633A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130482402 | ||||||
| chr3:130482458
|
T | G | 1 | a0013c0075t0016g0012 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.7820-1577T>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130482458 | ||||||
| chr3:130482504
|
C | T | 3 | a0002c0002t0001g0121a0017c0019t0002g0009a0017c0019t0002g0249 | 4 | NA18975.hp2 NA19001.hp1 NA19010.hp2 others(1): Show |
intron_variant | MODIFIER | c.7820-1531C>T | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130482504 | ||||||
| chr3:130482604
|
G | A | 2 | a0003c0004t0001g0018a0003c0004t0001g0019 | 2 | HG01975.hp1 HG01993.hp2 |
intron_variant | MODIFIER | c.7820-1431G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130482604 | ||||||
| chr3:130482795
|
C | A | 1 | a0001c0001t0002g0198 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.7820-1240C>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130482795 | ||||||
| chr3:130483007
|
A | G | 111 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(108): Show | 115 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(112): Show |
intron_variant | MODIFIER | c.7820-1028A>G | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130483007 | ||||||
| chr3:130483079
|
G | C | 153 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(150): Show | 157 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(154): Show |
intron_variant | MODIFIER | c.7820-956G>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130483079 | ||||||
| chr3:130483301
|
G | A | 4 | a0030c0035t0001g0217a0030c0035t0001g0218a0052c0101t0003g0061others(1): Show | 4 | HG01243.hp1 HG03041.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.7820-734G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130483301 | ||||||
| chr3:130483518
|
A | C | 28 | a0003c0004t0001g0018a0003c0004t0001g0019a0003c0004t0001g0020others(25): Show | 28 | HG01891.hp1 HG01975.hp1 HG01981.hp2 others(25): Show |
intron_variant | MODIFIER | c.7820-517A>C | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130483518 | ||||||
| chr3:130483702
|
G | A | 260 | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(257): Show | 269 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(266): Show |
intron_variant | MODIFIER | c.7820-333G>A | COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | chr3 | 130483702 |