Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 1294 |
| ensemblid | ENSG00000114270.18 |
| hgncid | 2214 |
| symbol | COL7A1 |
| name | collagen type VII alpha 1 chain |
| refseq_nuc | NM_000094.4 |
| refseq_prot | NP_000085.1 |
| ensembl_nuc | ENST00000681320.1 |
| ensembl_prot | ENSP00000506558.1 |
| mane_status | MANE Select |
| chr | chr3 |
| start | 48564073 |
| end | 48595329 |
| strand | - |
| ver | v1.2 |
| region | chr3:48564073-48595329 |
| region5000 | chr3:48559073-48600329 |
| regionname0 | COL7A1_chr3_48564073_48595329 |
| regionname5000 | COL7A1_chr3_48559073_48600329 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/0 | 2944 | 198 | 58 | 50 | 66 | 7 | 16 | 43 | COL7A1_chr3_48559073_48600329 | COL7A1 | MTLRL others(2939): Show |
chr3 | 48559073 | 48600329 |
| a0002 | 0/1 | 2944 | 15 | 1 | 6 | 0 | 1 | 6 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | MTLRL others(2939): Show |
chr3 | 48559073 | 48600329 |
| a0003 | 0/0 | 2944 | 3 | 0 | 3 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | MTLRL others(2939): Show |
chr3 | 48559073 | 48600329 |
| a0004 | 0/0 | 2944 | 2 | 1 | 1 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | MTLRL others(2939): Show |
chr3 | 48559073 | 48600329 |
| a0005 | 0/0 | 2944 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | MTLRL others(2939): Show |
chr3 | 48559073 | 48600329 |
| a0006 | 0/0 | 2944 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | MTLRL others(2939): Show |
chr3 | 48559073 | 48600329 |
| a0007 | 0/0 | 2944 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | MTLRL others(2939): Show |
chr3 | 48559073 | 48600329 |
| a0008 | 0/0 | 2944 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | MTLRL others(2939): Show |
chr3 | 48559073 | 48600329 |
| a0009 | 0/0 | 2944 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | MTLRL others(2939): Show |
chr3 | 48559073 | 48600329 |
| a0010 | 0/0 | 2944 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | MTLRL others(2939): Show |
chr3 | 48559073 | 48600329 |
| a0011 | 0/0 | 2944 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | MTLRL others(2939): Show |
chr3 | 48559073 | 48600329 |
| a0012 | 0/0 | 2944 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | MTLRL others(2939): Show |
chr3 | 48559073 | 48600329 |
| a0013 | 0/0 | 2944 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | MTLRL others(2939): Show |
chr3 | 48559073 | 48600329 |
| a0014 | 0/0 | 2944 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | MTLRL others(2939): Show |
chr3 | 48559073 | 48600329 |
| a0015 | 0/0 | 2944 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | MTLRL others(2939): Show |
chr3 | 48559073 | 48600329 |
| a0016 | 0/0 | 2944 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | COL7A1_chr3_48559073_48600329 | COL7A1 | MTLRL others(2939): Show |
chr3 | 48559073 | 48600329 |
| a0017 | 0/0 | 2944 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | COL7A1_chr3_48559073_48600329 | COL7A1 | MTLRL others(2939): Show |
chr3 | 48559073 | 48600329 |
| a0018 | 0/0 | 2944 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | COL7A1_chr3_48559073_48600329 | COL7A1 | MTLRL others(2939): Show |
chr3 | 48559073 | 48600329 |
| a0019 | 0/0 | 2944 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | MTLRL others(2939): Show |
chr3 | 48559073 | 48600329 |
| a0020 | 0/0 | 2944 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | COL7A1_chr3_48559073_48600329 | COL7A1 | MTLRL others(2939): Show |
chr3 | 48559073 | 48600329 |
| a0021 | 0/0 | 2944 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | COL7A1_chr3_48559073_48600329 | COL7A1 | MTLRL others(2939): Show |
chr3 | 48559073 | 48600329 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 8832 | 133 | 52 | 31 | 37 | 4 | 9 | COL7A1_chr3_48559073_48600329 | COL7A1 | ATGAC others(8827): Show |
chr3 | 48559073 | 48600329 | ||
| a0001c0002 | 1/0 | 8832 | 54 | 4 | 15 | 24 | 3 | 7 | COL7A1_chr3_48559073_48600329 | COL7A1 | ATGAC others(8827): Show |
chr3 | 48559073 | 48600329 | ||
| a0001c0004 | 0/0 | 8832 | 3 | 0 | 3 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | ATGAC others(8827): Show |
chr3 | 48559073 | 48600329 | ||
| a0001c0010 | 0/0 | 8832 | 1 | 0 | 0 | 1 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | ATGAC others(8827): Show |
chr3 | 48559073 | 48600329 | ||
| a0001c0017 | 0/0 | 8832 | 1 | 0 | 0 | 1 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | ATGAC others(8827): Show |
chr3 | 48559073 | 48600329 | ||
| a0001c0018 | 0/0 | 8832 | 1 | 0 | 1 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | ATGAC others(8827): Show |
chr3 | 48559073 | 48600329 | ||
| a0001c0019 | 0/0 | 8832 | 1 | 1 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | ATGAC others(8827): Show |
chr3 | 48559073 | 48600329 | ||
| a0001c0022 | 0/0 | 8832 | 1 | 0 | 0 | 1 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | ATGAC others(8827): Show |
chr3 | 48559073 | 48600329 | ||
| a0001c0028 | 0/0 | 8832 | 1 | 0 | 0 | 1 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | ATGAC others(8827): Show |
chr3 | 48559073 | 48600329 | ||
| a0001c0029 | 0/0 | 8832 | 1 | 1 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | ATGAC others(8827): Show |
chr3 | 48559073 | 48600329 | ||
| a0001c0030 | 0/0 | 8832 | 1 | 0 | 0 | 1 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | ATGAC others(8827): Show |
chr3 | 48559073 | 48600329 | ||
| a0002c0003 | 0/1 | 8832 | 13 | 0 | 5 | 0 | 1 | 6 | COL7A1_chr3_48559073_48600329 | COL7A1 | ATGAC others(8827): Show |
chr3 | 48559073 | 48600329 | ||
| a0002c0026 | 0/0 | 8832 | 1 | 0 | 1 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | ATGAC others(8827): Show |
chr3 | 48559073 | 48600329 | ||
| a0002c0027 | 0/0 | 8832 | 1 | 1 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | ATGAC others(8827): Show |
chr3 | 48559073 | 48600329 | ||
| a0003c0005 | 0/0 | 8832 | 3 | 0 | 3 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | ATGAC others(8827): Show |
chr3 | 48559073 | 48600329 | ||
| a0004c0006 | 0/0 | 8832 | 2 | 1 | 1 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | ATGAC others(8827): Show |
chr3 | 48559073 | 48600329 | ||
| a0005c0007 | 0/0 | 8832 | 2 | 2 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | ATGAC others(8827): Show |
chr3 | 48559073 | 48600329 | ||
| a0006c0025 | 0/0 | 8832 | 1 | 0 | 1 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | ATGAC others(8827): Show |
chr3 | 48559073 | 48600329 | ||
| a0007c0009 | 0/0 | 8832 | 1 | 0 | 1 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | ATGAC others(8827): Show |
chr3 | 48559073 | 48600329 | ||
| a0008c0008 | 0/0 | 8832 | 1 | 0 | 0 | 1 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | ATGAC others(8827): Show |
chr3 | 48559073 | 48600329 | ||
| a0009c0015 | 0/0 | 8832 | 1 | 1 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | ATGAC others(8827): Show |
chr3 | 48559073 | 48600329 | ||
| a0010c0032 | 0/0 | 8832 | 1 | 1 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | ATGAC others(8827): Show |
chr3 | 48559073 | 48600329 | ||
| a0011c0012 | 0/0 | 8832 | 1 | 0 | 0 | 0 | 0 | 1 | COL7A1_chr3_48559073_48600329 | COL7A1 | ATGAC others(8827): Show |
chr3 | 48559073 | 48600329 | ||
| a0012c0014 | 0/0 | 8832 | 1 | 1 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | ATGAC others(8827): Show |
chr3 | 48559073 | 48600329 | ||
| a0013c0033 | 0/0 | 8832 | 1 | 1 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | ATGAC others(8827): Show |
chr3 | 48559073 | 48600329 | ||
| a0014c0020 | 0/0 | 8832 | 1 | 1 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | ATGAC others(8827): Show |
chr3 | 48559073 | 48600329 | ||
| a0015c0016 | 0/0 | 8832 | 1 | 0 | 0 | 0 | 0 | 1 | COL7A1_chr3_48559073_48600329 | COL7A1 | ATGAC others(8827): Show |
chr3 | 48559073 | 48600329 | ||
| a0016c0013 | 0/0 | 8832 | 1 | 0 | 0 | 1 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | ATGAC others(8827): Show |
chr3 | 48559073 | 48600329 | ||
| a0017c0011 | 0/0 | 8832 | 1 | 0 | 0 | 1 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | ATGAC others(8827): Show |
chr3 | 48559073 | 48600329 | ||
| a0018c0031 | 0/0 | 8832 | 1 | 0 | 0 | 1 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | ATGAC others(8827): Show |
chr3 | 48559073 | 48600329 | ||
| a0019c0021 | 0/0 | 8832 | 1 | 1 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | ATGAC others(8827): Show |
chr3 | 48559073 | 48600329 | ||
| a0020c0023 | 0/0 | 8832 | 1 | 0 | 0 | 1 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | ATGAC others(8827): Show |
chr3 | 48559073 | 48600329 | ||
| a0021c0024 | 0/0 | 8832 | 1 | 0 | 0 | 1 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | ATGAC others(8827): Show |
chr3 | 48559073 | 48600329 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 9230 | 128 | 50 | 29 | 37 | 3 | 9 | COL7A1_chr3_48559073_48600329 | COL7A1 | GACTT others(9225): Show |
chr3 | 48559073 | 48600329 |
| a0001c0001t0002 | 0/0 | 9230 | 3 | 0 | 2 | 0 | 1 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | GACTT others(9225): Show |
chr3 | 48559073 | 48600329 |
| a0001c0001t0003 | 0/0 | 9231 | 2 | 2 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | GACTT others(9226): Show |
chr3 | 48559073 | 48600329 |
| a0001c0002t0001 | 1/0 | 9230 | 54 | 4 | 15 | 24 | 3 | 7 | COL7A1_chr3_48559073_48600329 | COL7A1 | GACTT others(9225): Show |
chr3 | 48559073 | 48600329 |
| a0001c0004t0001 | 0/0 | 9230 | 3 | 0 | 3 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | GACTT others(9225): Show |
chr3 | 48559073 | 48600329 |
| a0001c0010t0001 | 0/0 | 9230 | 1 | 0 | 0 | 1 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | GACTT others(9225): Show |
chr3 | 48559073 | 48600329 |
| a0001c0017t0001 | 0/0 | 9230 | 1 | 0 | 0 | 1 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | GACTT others(9225): Show |
chr3 | 48559073 | 48600329 |
| a0001c0018t0001 | 0/0 | 9230 | 1 | 0 | 1 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | GACTT others(9225): Show |
chr3 | 48559073 | 48600329 |
| a0001c0019t0001 | 0/0 | 9230 | 1 | 1 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | GACTT others(9225): Show |
chr3 | 48559073 | 48600329 |
| a0001c0022t0001 | 0/0 | 9230 | 1 | 0 | 0 | 1 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | GACTT others(9225): Show |
chr3 | 48559073 | 48600329 |
| a0001c0028t0001 | 0/0 | 9230 | 1 | 0 | 0 | 1 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | GACTT others(9225): Show |
chr3 | 48559073 | 48600329 |
| a0001c0029t0001 | 0/0 | 9230 | 1 | 1 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | GACTT others(9225): Show |
chr3 | 48559073 | 48600329 |
| a0001c0030t0001 | 0/0 | 9230 | 1 | 0 | 0 | 1 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | GACTT others(9225): Show |
chr3 | 48559073 | 48600329 |
| a0002c0003t0001 | 0/1 | 9230 | 12 | 0 | 4 | 0 | 1 | 6 | COL7A1_chr3_48559073_48600329 | COL7A1 | GACTT others(9225): Show |
chr3 | 48559073 | 48600329 |
| a0002c0003t0004 | 0/0 | 9230 | 1 | 0 | 1 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | GACTT others(9225): Show |
chr3 | 48559073 | 48600329 |
| a0002c0026t0001 | 0/0 | 9230 | 1 | 0 | 1 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | GACTT others(9225): Show |
chr3 | 48559073 | 48600329 |
| a0002c0027t0001 | 0/0 | 9230 | 1 | 1 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | GACTT others(9225): Show |
chr3 | 48559073 | 48600329 |
| a0003c0005t0001 | 0/0 | 9230 | 3 | 0 | 3 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | GACTT others(9225): Show |
chr3 | 48559073 | 48600329 |
| a0004c0006t0001 | 0/0 | 9230 | 2 | 1 | 1 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | GACTT others(9225): Show |
chr3 | 48559073 | 48600329 |
| a0005c0007t0001 | 0/0 | 9230 | 2 | 2 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | GACTT others(9225): Show |
chr3 | 48559073 | 48600329 |
| a0006c0025t0001 | 0/0 | 9230 | 1 | 0 | 1 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | GACTT others(9225): Show |
chr3 | 48559073 | 48600329 |
| a0007c0009t0001 | 0/0 | 9230 | 1 | 0 | 1 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | GACTT others(9225): Show |
chr3 | 48559073 | 48600329 |
| a0008c0008t0001 | 0/0 | 9230 | 1 | 0 | 0 | 1 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | GACTT others(9225): Show |
chr3 | 48559073 | 48600329 |
| a0009c0015t0001 | 0/0 | 9230 | 1 | 1 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | GACTT others(9225): Show |
chr3 | 48559073 | 48600329 |
| a0010c0032t0001 | 0/0 | 9230 | 1 | 1 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | GACTT others(9225): Show |
chr3 | 48559073 | 48600329 |
| a0011c0012t0001 | 0/0 | 9230 | 1 | 0 | 0 | 0 | 0 | 1 | COL7A1_chr3_48559073_48600329 | COL7A1 | GACTT others(9225): Show |
chr3 | 48559073 | 48600329 |
| a0012c0014t0001 | 0/0 | 9230 | 1 | 1 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | GACTT others(9225): Show |
chr3 | 48559073 | 48600329 |
| a0013c0033t0001 | 0/0 | 9230 | 1 | 1 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | GACTT others(9225): Show |
chr3 | 48559073 | 48600329 |
| a0014c0020t0001 | 0/0 | 9230 | 1 | 1 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | GACTT others(9225): Show |
chr3 | 48559073 | 48600329 |
| a0015c0016t0001 | 0/0 | 9230 | 1 | 0 | 0 | 0 | 0 | 1 | COL7A1_chr3_48559073_48600329 | COL7A1 | GACTT others(9225): Show |
chr3 | 48559073 | 48600329 |
| a0016c0013t0001 | 0/0 | 9230 | 1 | 0 | 0 | 1 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | GACTT others(9225): Show |
chr3 | 48559073 | 48600329 |
| a0017c0011t0001 | 0/0 | 9230 | 1 | 0 | 0 | 1 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | GACTT others(9225): Show |
chr3 | 48559073 | 48600329 |
| a0018c0031t0001 | 0/0 | 9230 | 1 | 0 | 0 | 1 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | GACTT others(9225): Show |
chr3 | 48559073 | 48600329 |
| a0019c0021t0001 | 0/0 | 9230 | 1 | 1 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | GACTT others(9225): Show |
chr3 | 48559073 | 48600329 |
| a0020c0023t0001 | 0/0 | 9230 | 1 | 0 | 0 | 1 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | GACTT others(9225): Show |
chr3 | 48559073 | 48600329 |
| a0021c0024t0001 | 0/0 | 9230 | 1 | 0 | 0 | 1 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | GACTT others(9225): Show |
chr3 | 48559073 | 48600329 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0002 | 0/0 | 23 | 2 | 9 | 7 | 0 | 5 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0001g0003 | 0/0 | 7 | 7 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0001g0004 | 0/0 | 6 | 0 | 0 | 6 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0001g0005 | 0/0 | 6 | 6 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0001g0006 | 0/0 | 6 | 0 | 5 | 0 | 0 | 1 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0001g0007 | 0/0 | 5 | 0 | 0 | 4 | 1 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0001g0008 | 0/0 | 5 | 0 | 3 | 0 | 2 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0001g0009 | 0/0 | 5 | 0 | 0 | 5 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0001g0010 | 0/0 | 4 | 4 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0001g0011 | 0/0 | 4 | 3 | 1 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0001g0012 | 0/0 | 4 | 3 | 1 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0001g0013 | 0/0 | 4 | 4 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0001g0016 | 0/0 | 3 | 0 | 0 | 2 | 0 | 1 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0001g0017 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0001g0019 | 0/0 | 3 | 2 | 0 | 1 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0001g0023 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0001g0024 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0001g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0001g0035 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0001g0036 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0001g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0001g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0001g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0001g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0001g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0001g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0001g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0001g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0001g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0001g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0001g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0001g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0001g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0001g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0001g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0001g0069 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0001g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0001g0072 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0001g0074 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0001g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0001g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0001g0079 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0001g0080 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0001g0081 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0001g0084 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0001g0085 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0001g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0001g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0001g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0001g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0001g0103 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0001g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0001g0109 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0002g0014 | 0/0 | 3 | 0 | 2 | 0 | 1 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0003g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0001t0003g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0002t0001g0001 | 1/0 | 37 | 2 | 8 | 22 | 2 | 2 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0002t0001g0018 | 0/0 | 3 | 0 | 3 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0002t0001g0021 | 0/0 | 2 | 0 | 1 | 0 | 1 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0002t0001g0025 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0002t0001g0051 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0002t0001g0052 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0002t0001g0053 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0002t0001g0054 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0002t0001g0056 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0002t0001g0058 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0002t0001g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0002t0001g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0002t0001g0083 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0002t0001g0100 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0004t0001g0015 | 0/0 | 3 | 0 | 3 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0010t0001g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0017t0001g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0018t0001g0077 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0019t0001g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0022t0001g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0028t0001g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0029t0001g0104 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0001c0030t0001g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0002c0003t0001g0020 | 0/0 | 3 | 0 | 0 | 0 | 1 | 2 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0002c0003t0001g0027 | 0/0 | 2 | 0 | 1 | 0 | 0 | 1 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0002c0003t0001g0030 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0002c0003t0001g0090 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0002c0003t0001g0091 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0002c0003t0001g0092 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0002c0003t0001g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0002c0003t0001g0096 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0002c0003t0001g0097 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0002c0003t0004g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0002c0026t0001g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0002c0027t0001g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0003c0005t0001g0022 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0003c0005t0001g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0004c0006t0001g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0004c0006t0001g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0005c0007t0001g0026 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0006c0025t0001g0089 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0007c0009t0001g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0008c0008t0001g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0009c0015t0001g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0010c0032t0001g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0011c0012t0001g0057 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0012c0014t0001g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0013c0033t0001g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0014c0020t0001g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0015c0016t0001g0071 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0016c0013t0001g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0017c0011t0001g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0018c0031t0001g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0019c0021t0001g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0020c0023t0001g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| a0021c0024t0001g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00323 | hp1 | a0002 | c0003 | t0001 | g0020 | EUR | FIN | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG00323 | hp2 | a0001 | c0001 | t0002 | g0014 | EUR | FIN | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG00544 | hp1 | a0001 | c0002 | t0001 | g0001 | EAS | CHS | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG00544 | hp2 | a0001 | c0001 | t0001 | g0016 | EAS | CHS | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG00597 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | CHS | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG00597 | hp2 | a0001 | c0001 | t0001 | g0076 | EAS | CHS | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG00609 | hp1 | a0001 | c0028 | t0001 | g0101 | EAS | CHS | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG00609 | hp2 | a0001 | c0002 | t0001 | g0001 | EAS | CHS | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG00639 | hp1 | a0001 | c0001 | t0001 | g0006 | AMR | PUR | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG00639 | hp2 | a0001 | c0001 | t0001 | g0008 | AMR | PUR | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG00642 | hp1 | a0004 | c0006 | t0001 | g0068 | AMR | PUR | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG00642 | hp2 | a0001 | c0002 | t0001 | g0001 | AMR | PUR | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG00673 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | CHS | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG00673 | hp2 | a0001 | c0002 | t0001 | g0001 | EAS | CHS | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG00735 | hp1 | a0001 | c0002 | t0001 | g0001 | AMR | PUR | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG00735 | hp2 | a0001 | c0001 | t0001 | g0035 | AMR | PUR | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG00738 | hp1 | a0001 | c0001 | t0001 | g0069 | AMR | PUR | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG00738 | hp2 | a0001 | c0004 | t0001 | g0015 | AMR | PUR | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG00741 | hp1 | a0001 | c0001 | t0001 | g0036 | AMR | PUR | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG00741 | hp2 | a0002 | c0003 | t0001 | g0090 | AMR | PUR | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01069 | hp1 | a0001 | c0001 | t0002 | g0014 | AMR | PUR | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01069 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | PUR | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01071 | hp1 | a0001 | c0001 | t0001 | g0008 | AMR | PUR | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01071 | hp2 | a0001 | c0001 | t0002 | g0014 | AMR | PUR | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01074 | hp1 | a0001 | c0001 | t0001 | g0103 | AMR | PUR | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01074 | hp2 | a0001 | c0002 | t0001 | g0021 | AMR | PUR | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01081 | hp1 | a0001 | c0001 | t0001 | g0084 | AMR | PUR | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01081 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | PUR | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01099 | hp1 | a0001 | c0001 | t0001 | g0008 | AMR | PUR | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01099 | hp2 | a0001 | c0001 | t0001 | g0080 | AMR | PUR | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01106 | hp1 | a0002 | c0003 | t0004 | g0095 | AMR | PUR | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01106 | hp2 | a0002 | c0003 | t0001 | g0097 | AMR | PUR | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01109 | hp1 | a0001 | c0001 | t0001 | g0012 | AMR | PUR | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01109 | hp2 | a0002 | c0026 | t0001 | g0094 | AMR | PUR | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01168 | hp1 | a0001 | c0002 | t0001 | g0083 | AMR | PUR | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01168 | hp2 | a0001 | c0001 | t0001 | g0085 | AMR | PUR | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01175 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | PUR | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01175 | hp2 | a0001 | c0002 | t0001 | g0018 | AMR | PUR | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01256 | hp1 | a0001 | c0001 | t0001 | g0006 | AMR | CLM | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01256 | hp2 | a0001 | c0002 | t0001 | g0001 | AMR | CLM | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01257 | hp1 | a0001 | c0002 | t0001 | g0018 | AMR | CLM | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01257 | hp2 | a0001 | c0004 | t0001 | g0015 | AMR | CLM | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01258 | hp1 | a0001 | c0004 | t0001 | g0015 | AMR | CLM | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01258 | hp2 | a0001 | c0002 | t0001 | g0001 | AMR | CLM | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01261 | hp1 | a0001 | c0002 | t0001 | g0001 | AMR | CLM | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01261 | hp2 | a0001 | c0018 | t0001 | g0077 | AMR | CLM | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01346 | hp1 | a0001 | c0001 | t0001 | g0006 | AMR | CLM | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01346 | hp2 | a0001 | c0002 | t0001 | g0100 | AMR | CLM | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01361 | hp1 | a0001 | c0001 | t0001 | g0074 | AMR | CLM | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01361 | hp2 | a0006 | c0025 | t0001 | g0089 | AMR | CLM | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01433 | hp1 | a0001 | c0001 | t0001 | g0006 | AMR | CLM | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01433 | hp2 | a0001 | c0002 | t0001 | g0001 | AMR | CLM | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01496 | hp1 | a0001 | c0002 | t0001 | g0001 | AMR | CLM | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01496 | hp2 | a0001 | c0001 | t0001 | g0006 | AMR | CLM | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01515 | hp1 | a0001 | c0002 | t0001 | g0001 | EUR | IBS | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01515 | hp2 | a0001 | c0001 | t0001 | g0008 | EUR | IBS | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01517 | hp1 | a0001 | c0001 | t0001 | g0008 | EUR | IBS | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01517 | hp2 | a0001 | c0002 | t0001 | g0001 | EUR | IBS | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01884 | hp1 | a0001 | c0001 | t0001 | g0005 | AFR | ACB | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01884 | hp2 | a0001 | c0029 | t0001 | g0104 | AFR | ACB | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01928 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | PEL | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01928 | hp2 | a0002 | c0003 | t0001 | g0093 | AMR | PEL | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01934 | hp1 | a0001 | c0001 | t0001 | g0011 | AMR | PEL | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01934 | hp2 | a0001 | c0002 | t0001 | g0018 | AMR | PEL | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01943 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | PEL | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01943 | hp2 | a0003 | c0005 | t0001 | g0022 | AMR | PEL | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01952 | hp1 | a0001 | c0002 | t0001 | g0053 | AMR | PEL | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01952 | hp2 | a0001 | c0001 | t0001 | g0109 | AMR | PEL | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01978 | hp1 | a0003 | c0005 | t0001 | g0055 | AMR | PEL | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01978 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | PEL | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01981 | hp1 | a0002 | c0003 | t0001 | g0027 | AMR | PEL | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01981 | hp2 | a0007 | c0009 | t0001 | g0032 | AMR | PEL | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01993 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | PEL | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG01993 | hp2 | a0003 | c0005 | t0001 | g0022 | AMR | PEL | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02027 | hp1 | a0008 | c0008 | t0001 | g0031 | EAS | KHV | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02027 | hp2 | a0001 | c0001 | t0001 | g0009 | EAS | KHV | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02040 | hp1 | a0001 | c0001 | t0001 | g0004 | EAS | KHV | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02040 | hp2 | a0001 | c0002 | t0001 | g0001 | EAS | KHV | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02071 | hp1 | a0001 | c0001 | t0001 | g0007 | EAS | KHV | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02071 | hp2 | a0001 | c0002 | t0001 | g0001 | EAS | KHV | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02074 | hp1 | a0001 | c0001 | t0001 | g0004 | EAS | KHV | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02074 | hp2 | a0001 | c0001 | t0001 | g0048 | EAS | KHV | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02129 | hp1 | a0001 | c0001 | t0001 | g0004 | EAS | KHV | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02129 | hp2 | a0001 | c0002 | t0001 | g0001 | EAS | KHV | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02132 | hp1 | a0001 | c0002 | t0001 | g0001 | EAS | KHV | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02132 | hp2 | a0001 | c0001 | t0001 | g0024 | EAS | KHV | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02145 | hp1 | a0004 | c0006 | t0001 | g0112 | AFR | ACB | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02145 | hp2 | a0001 | c0001 | t0001 | g0010 | AFR | ACB | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02148 | hp1 | a0001 | c0002 | t0001 | g0001 | AMR | PEL | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02148 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | PEL | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02155 | hp1 | a0001 | c0002 | t0001 | g0001 | EAS | CDX | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02155 | hp2 | a0001 | c0001 | t0001 | g0004 | EAS | CDX | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02257 | hp1 | a0001 | c0002 | t0001 | g0001 | AFR | ACB | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02257 | hp2 | a0001 | c0001 | t0001 | g0010 | AFR | ACB | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02258 | hp1 | a0001 | c0001 | t0001 | g0003 | AFR | ACB | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02258 | hp2 | a0001 | c0001 | t0001 | g0002 | AFR | ACB | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02273 | hp1 | a0001 | c0001 | t0001 | g0079 | AMR | PEL | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02273 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | PEL | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02451 | hp1 | a0001 | c0001 | t0001 | g0010 | AFR | ACB | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02451 | hp2 | a0001 | c0001 | t0001 | g0019 | AFR | ACB | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02572 | hp1 | a0001 | c0001 | t0001 | g0064 | AFR | GWD | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02572 | hp2 | a0001 | c0001 | t0001 | g0102 | AFR | GWD | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02622 | hp1 | a0001 | c0001 | t0001 | g0012 | AFR | GWD | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02622 | hp2 | a0001 | c0001 | t0001 | g0005 | AFR | GWD | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02630 | hp1 | a0001 | c0001 | t0001 | g0005 | AFR | GWD | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02630 | hp2 | a0001 | c0001 | t0001 | g0087 | AFR | GWD | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02647 | hp1 | a0001 | c0001 | t0001 | g0033 | AFR | GWD | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02647 | hp2 | a0010 | c0032 | t0001 | g0110 | AFR | GWD | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02698 | hp1 | a0001 | c0001 | t0001 | g0002 | SAS | PJL | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02698 | hp2 | a0001 | c0001 | t0001 | g0002 | SAS | PJL | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02735 | hp1 | a0002 | c0003 | t0001 | g0027 | SAS | PJL | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02735 | hp2 | a0001 | c0001 | t0001 | g0016 | SAS | PJL | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02738 | hp1 | a0011 | c0012 | t0001 | g0057 | SAS | PJL | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02738 | hp2 | a0001 | c0001 | t0001 | g0002 | SAS | PJL | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02809 | hp1 | a0001 | c0001 | t0001 | g0003 | AFR | GWD | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02809 | hp2 | a0001 | c0001 | t0001 | g0067 | AFR | GWD | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02818 | hp1 | a0002 | c0027 | t0001 | g0098 | AFR | GWD | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02818 | hp2 | a0001 | c0001 | t0001 | g0039 | AFR | GWD | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02895 | hp1 | a0001 | c0001 | t0001 | g0019 | AFR | GWD | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02895 | hp2 | a0001 | c0001 | t0001 | g0005 | AFR | GWD | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02896 | hp1 | a0001 | c0001 | t0001 | g0005 | AFR | GWD | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02896 | hp2 | a0001 | c0001 | t0001 | g0012 | AFR | GWD | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02922 | hp1 | a0001 | c0001 | t0001 | g0041 | AFR | ESN | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02922 | hp2 | a0001 | c0001 | t0001 | g0013 | AFR | ESN | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG03017 | hp1 | a0001 | c0001 | t0001 | g0002 | SAS | PJL | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG03017 | hp2 | a0002 | c0003 | t0001 | g0030 | SAS | PJL | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG03041 | hp1 | a0012 | c0014 | t0001 | g0105 | AFR | GWD | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG03041 | hp2 | a0001 | c0001 | t0001 | g0012 | AFR | GWD | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG03098 | hp1 | a0013 | c0033 | t0001 | g0111 | AFR | MSL | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG03098 | hp2 | a0001 | c0002 | t0001 | g0025 | AFR | MSL | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG03130 | hp1 | a0001 | c0001 | t0001 | g0011 | AFR | ESN | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG03130 | hp2 | a0005 | c0007 | t0001 | g0026 | AFR | ESN | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG03139 | hp1 | a0001 | c0001 | t0001 | g0040 | AFR | ESN | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG03139 | hp2 | a0001 | c0001 | t0001 | g0013 | AFR | ESN | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG03195 | hp1 | a0001 | c0001 | t0001 | g0047 | AFR | ESN | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG03195 | hp2 | a0001 | c0001 | t0001 | g0013 | AFR | ESN | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG03225 | hp1 | a0014 | c0020 | t0001 | g0045 | AFR | MSL | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG03225 | hp2 | a0001 | c0001 | t0001 | g0010 | AFR | MSL | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG03453 | hp1 | a0001 | c0001 | t0003 | g0028 | AFR | MSL | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG03453 | hp2 | a0001 | c0001 | t0001 | g0099 | AFR | MSL | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG03486 | hp1 | a0001 | c0001 | t0001 | g0078 | AFR | MSL | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG03486 | hp2 | a0001 | c0001 | t0001 | g0003 | AFR | MSL | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG03491 | hp1 | a0002 | c0003 | t0001 | g0020 | SAS | PJL | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG03491 | hp2 | a0001 | c0001 | t0001 | g0006 | SAS | PJL | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG03540 | hp1 | a0001 | c0001 | t0001 | g0003 | AFR | GWD | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG03540 | hp2 | a0001 | c0001 | t0001 | g0005 | AFR | GWD | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG03579 | hp1 | a0001 | c0001 | t0001 | g0003 | AFR | MSL | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG03579 | hp2 | a0001 | c0001 | t0001 | g0013 | AFR | MSL | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG03669 | hp1 | a0001 | c0002 | t0001 | g0001 | SAS | PJL | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG03669 | hp2 | a0001 | c0002 | t0001 | g0052 | SAS | PJL | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG03688 | hp1 | a0002 | c0003 | t0001 | g0096 | SAS | STU | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG03688 | hp2 | a0001 | c0002 | t0001 | g0058 | SAS | STU | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG03710 | hp1 | a0001 | c0002 | t0001 | g0056 | SAS | PJL | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG03710 | hp2 | a0002 | c0003 | t0001 | g0020 | SAS | PJL | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG03942 | hp1 | a0001 | c0001 | t0001 | g0002 | SAS | BEB | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG03942 | hp2 | a0002 | c0003 | t0001 | g0092 | SAS | BEB | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG04199 | hp1 | a0001 | c0002 | t0001 | g0051 | SAS | STU | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG04199 | hp2 | a0001 | c0002 | t0001 | g0054 | SAS | STU | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG04204 | hp1 | a0001 | c0002 | t0001 | g0001 | SAS | STU | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG04204 | hp2 | a0001 | c0001 | t0001 | g0072 | SAS | STU | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG04228 | hp1 | a0015 | c0016 | t0001 | g0071 | SAS | STU | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG04228 | hp2 | a0001 | c0001 | t0001 | g0081 | SAS | STU | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA18522 | hp1 | a0001 | c0001 | t0001 | g0066 | AFR | YRI | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA18522 | hp2 | a0001 | c0001 | t0001 | g0003 | AFR | YRI | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA18747 | hp1 | a0001 | c0001 | t0001 | g0007 | EAS | CHB | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA18747 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | CHB | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA18906 | hp1 | a0001 | c0001 | t0001 | g0011 | AFR | YRI | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA18906 | hp2 | a0001 | c0019 | t0001 | g0075 | AFR | YRI | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA18940 | hp1 | a0001 | c0001 | t0001 | g0038 | EAS | JPT | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA18940 | hp2 | a0001 | c0002 | t0001 | g0001 | EAS | JPT | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA18943 | hp1 | a0001 | c0001 | t0001 | g0004 | EAS | JPT | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA18943 | hp2 | a0001 | c0002 | t0001 | g0001 | EAS | JPT | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA18944 | hp1 | a0001 | c0017 | t0001 | g0073 | EAS | JPT | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA18944 | hp2 | a0001 | c0002 | t0001 | g0001 | EAS | JPT | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA18946 | hp1 | a0001 | c0002 | t0001 | g0001 | EAS | JPT | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA18946 | hp2 | a0001 | c0001 | t0001 | g0004 | EAS | JPT | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA18951 | hp1 | a0001 | c0001 | t0001 | g0017 | EAS | JPT | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA18951 | hp2 | a0001 | c0001 | t0001 | g0024 | EAS | JPT | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA18954 | hp1 | a0001 | c0001 | t0001 | g0007 | EAS | JPT | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA18954 | hp2 | a0016 | c0013 | t0001 | g0061 | EAS | JPT | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA18964 | hp1 | a0001 | c0002 | t0001 | g0001 | EAS | JPT | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA18964 | hp2 | a0017 | c0011 | t0001 | g0050 | EAS | JPT | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA18979 | hp1 | a0001 | c0001 | t0001 | g0007 | EAS | JPT | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA18979 | hp2 | a0001 | c0002 | t0001 | g0001 | EAS | JPT | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA18984 | hp1 | a0001 | c0002 | t0001 | g0060 | EAS | JPT | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA18984 | hp2 | a0018 | c0031 | t0001 | g0108 | EAS | JPT | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA18997 | hp1 | a0001 | c0001 | t0001 | g0009 | EAS | JPT | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA18997 | hp2 | a0001 | c0002 | t0001 | g0001 | EAS | JPT | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA18999 | hp1 | a0001 | c0002 | t0001 | g0001 | EAS | JPT | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA18999 | hp2 | a0001 | c0001 | t0001 | g0009 | EAS | JPT | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA19000 | hp1 | a0001 | c0002 | t0001 | g0001 | EAS | JPT | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA19000 | hp2 | a0001 | c0001 | t0001 | g0042 | EAS | JPT | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA19005 | hp1 | a0001 | c0001 | t0001 | g0009 | EAS | JPT | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA19005 | hp2 | a0001 | c0002 | t0001 | g0001 | EAS | JPT | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA19012 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA19012 | hp2 | a0001 | c0022 | t0001 | g0044 | EAS | JPT | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA19030 | hp1 | a0001 | c0001 | t0001 | g0063 | AFR | LWK | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA19030 | hp2 | a0019 | c0021 | t0001 | g0049 | AFR | LWK | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA19064 | hp1 | a0001 | c0002 | t0001 | g0059 | EAS | JPT | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA19064 | hp2 | a0001 | c0001 | t0001 | g0019 | EAS | JPT | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA19065 | hp1 | a0001 | c0010 | t0001 | g0034 | EAS | JPT | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA19065 | hp2 | a0001 | c0001 | t0001 | g0016 | EAS | JPT | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA19067 | hp1 | a0001 | c0002 | t0001 | g0001 | EAS | JPT | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA19067 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA19070 | hp1 | a0001 | c0002 | t0001 | g0001 | EAS | JPT | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA19070 | hp2 | a0001 | c0001 | t0001 | g0037 | EAS | JPT | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA19079 | hp1 | a0001 | c0001 | t0001 | g0017 | EAS | JPT | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA19079 | hp2 | a0001 | c0001 | t0001 | g0070 | EAS | JPT | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA19083 | hp1 | a0001 | c0030 | t0001 | g0107 | EAS | JPT | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA19083 | hp2 | a0020 | c0023 | t0001 | g0082 | EAS | JPT | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA19087 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA19087 | hp2 | a0021 | c0024 | t0001 | g0088 | EAS | JPT | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA19088 | hp1 | a0001 | c0002 | t0001 | g0001 | EAS | JPT | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA19088 | hp2 | a0001 | c0001 | t0001 | g0009 | EAS | JPT | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA19089 | hp1 | a0001 | c0002 | t0001 | g0001 | EAS | JPT | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA19089 | hp2 | a0001 | c0001 | t0001 | g0043 | EAS | JPT | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA19090 | hp1 | a0001 | c0001 | t0001 | g0017 | EAS | JPT | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA19090 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA20752 | hp1 | a0001 | c0001 | t0001 | g0007 | EUR | TSI | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA20752 | hp2 | a0001 | c0002 | t0001 | g0021 | EUR | TSI | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02109 | hp1 | a0001 | c0002 | t0001 | g0001 | AFR | ACB | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02109 | hp2 | a0001 | c0001 | t0001 | g0011 | AFR | ACB | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02486 | hp1 | a0001 | c0001 | t0001 | g0003 | AFR | ACB | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02486 | hp2 | a0005 | c0007 | t0001 | g0026 | AFR | ACB | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02559 | hp1 | a0009 | c0015 | t0001 | g0062 | AFR | ACB | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG02559 | hp2 | a0001 | c0002 | t0001 | g0025 | AFR | ACB | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG03471 | hp1 | a0001 | c0001 | t0001 | g0002 | AFR | MSL | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG03471 | hp2 | a0001 | c0001 | t0001 | g0046 | AFR | MSL | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG06807 | hp1 | a0001 | c0001 | t0003 | g0029 | AFR | USA | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| HG06807 | hp2 | a0001 | c0001 | t0001 | g0065 | AFR | USA | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA20300 | hp1 | a0001 | c0001 | t0001 | g0023 | AFR | USA | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA20300 | hp2 | a0001 | c0001 | t0001 | g0086 | AFR | USA | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA21309 | hp1 | a0001 | c0001 | t0001 | g0023 | AFR | LWK | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| NA21309 | hp2 | a0001 | c0001 | t0001 | g0106 | AFR | LWK | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| homoSapiens | chm13v2 | a0002 | c0003 | t0001 | g0091 | REF | REF | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| homoSapiens | grch38p0 | a0001 | c0002 | t0001 | g0001 | REF | REF | COL7A1_chr3_48559073_48600329 | COL7A1 | chr3 | 48559073 | 48600329 |
| view | chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr3:48565190 | G | A | 1 | a0019 | 1 | NA19030.hp2 | missense_variant | MODERATE | c.8539C>T | p.Pro2847Ser | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 117/119 | 8602/9231 | 8539/8835 | 2847/2944 | chr3 | 48565190 | |||
| chr3:48565199 | G | A | 1 | a0014 | 1 | HG03225.hp1 | missense_variant&splice_region_variant | MODERATE | c.8530C>T | p.Arg2844Trp | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 117/119 | 8593/9231 | 8530/8835 | 2844/2944 | chr3 | 48565199 | |||
| chr3:48570670 | G | C | 1 | a0003 | 3 | HG01943.hp2 HG01978.hp1 HG01993.hp2 |
missense_variant | MODERATE | c.7313C>G | p.Pro2438Arg | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 96/119 | 7376/9231 | 7313/8835 | 2438/2944 | chr3 | 48570670 | |||
| chr3:48570697 | G | A | 1 | a0012 | 1 | HG03041.hp1 | missense_variant | MODERATE | c.7286C>T | p.Pro2429Leu | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 96/119 | 7349/9231 | 7286/8835 | 2429/2944 | chr3 | 48570697 | |||
| chr3:48570916 | G | A | 1 | a0011 | 1 | HG02738.hp1 | missense_variant | MODERATE | c.7217C>T | p.Pro2406Leu | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 95/119 | 7280/9231 | 7217/8835 | 2406/2944 | chr3 | 48570916 | |||
| chr3:48576898 | C | T | 1 | a0005 | 2 | HG02486.hp2 HG03130.hp2 |
missense_variant | MODERATE | c.5590G>A | p.Ala1864Thr | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 67/119 | 5653/9231 | 5590/8835 | 1864/2944 | chr3 | 48576898 | |||
| chr3:48579652 | C | T | 1 | a0015 | 1 | HG04228.hp1 | missense_variant | MODERATE | c.5171G>A | p.Arg1724His | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 59/119 | 5234/9231 | 5171/8835 | 1724/2944 | chr3 | 48579652 | |||
| chr3:48581943 | C | G | 1 | a0009 | 1 | HG02559.hp1 | missense_variant&splice_region_variant | MODERATE | c.4636G>C | p.Gly1546Arg | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 48/119 | 4699/9231 | 4636/8835 | 1546/2944 | chr3 | 48581943 | |||
| chr3:48582345 | C | T | 1 | a0012 | 1 | HG03041.hp1 | missense_variant | MODERATE | c.4613G>A | p.Arg1538His | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 47/119 | 4676/9231 | 4613/8835 | 1538/2944 | chr3 | 48582345 | |||
| chr3:48582613 | G | A | 1 | a0019 | 1 | NA19030.hp2 | missense_variant | MODERATE | c.4559C>T | p.Pro1520Leu | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 45/119 | 4622/9231 | 4559/8835 | 1520/2944 | chr3 | 48582613 | |||
| chr3:48584486 | G | A | 1 | a0016 | 1 | NA18954.hp2 | missense_variant&splice_region_variant | MODERATE | c.4118C>T | p.Ser1373Leu | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 36/119 | 4181/9231 | 4118/8835 | 1373/2944 | chr3 | 48584486 | |||
| chr3:48585691 | G | A | 1 | a0004 | 2 | HG00642.hp1 HG02145.hp1 |
missense_variant&splice_region_variant | MODERATE | c.3830C>T | p.Pro1277Leu | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 31/119 | 3893/9231 | 3830/8835 | 1277/2944 | chr3 | 48585691 | |||
| chr3:48587037 | C | T | 1 | a0017 | 1 | NA18964.hp2 | missense_variant | MODERATE | c.3211G>A | p.Ala1071Thr | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 25/119 | 3274/9231 | 3211/8835 | 1071/2944 | chr3 | 48587037 | |||
| chr3:48588392 | G | A | 1 | a0020 | 1 | NA19083.hp2 | missense_variant | MODERATE | c.2600C>T | p.Pro867Leu | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 21/119 | 2663/9231 | 2600/8835 | 867/2944 | chr3 | 48588392 | |||
| chr3:48588977 | C | G | 1 | a0010 | 1 | HG02647.hp2 | missense_variant | MODERATE | c.2333G>C | p.Arg778Pro | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 19/119 | 2396/9231 | 2333/8835 | 778/2944 | chr3 | 48588977 | |||
| chr3:48590353 | G | A | 1 | a0021 | 1 | NA19087.hp2 | missense_variant | MODERATE | c.1910C>T | p.Pro637Leu | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 16/119 | 1973/9231 | 1910/8835 | 637/2944 | chr3 | 48590353 | |||
| chr3:48590483 | G | A | 1 | a0006 | 1 | HG01361.hp2 | missense_variant | MODERATE | c.1882C>T | p.Arg628Trp | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 15/119 | 1945/9231 | 1882/8835 | 628/2944 | chr3 | 48590483 | |||
| chr3:48590581 | G | A | 2 | a0002 a0005 |
16 | HG00323.hp1 HG00741.hp2 HG01106.hp1 others(13): Show |
missense_variant | MODERATE | c.1784C>T | p.Pro595Leu | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 15/119 | 1847/9231 | 1784/8835 | 595/2944 | chr3 | 48590581 | |||
| chr3:48592662 | C | T | 1 | a0007 | 1 | HG01981.hp2 | missense_variant | MODERATE | c.884G>A | p.Arg295Gln | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 8/119 | 947/9231 | 884/8835 | 295/2944 | chr3 | 48592662 | |||
| chr3:48593153 | C | T | 1 | a0008 | 1 | HG02027.hp1 | missense_variant | MODERATE | c.631G>A | p.Val211Ile | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 6/119 | 694/9231 | 631/8835 | 211/2944 | chr3 | 48593153 | |||
| chr3:48593374 | C | A | 1 | a0018 | 1 | NA18984.hp2 | missense_variant | MODERATE | c.502G>T | p.Val168Phe | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 5/119 | 565/9231 | 502/8835 | 168/2944 | chr3 | 48593374 | |||
| chr3:48594545 | G | A | 2 | a0010 a0013 |
2 | HG02647.hp2 HG03098.hp1 |
missense_variant | MODERATE | c.89C>T | p.Thr30Ile | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 3/119 | 152/9231 | 89/8835 | 30/2944 | chr3 | 48594545 |
| view | chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr3:48565161 | G | A | 1 | a0001c0019 | 1 | NA18906.hp2 | synonymous_variant | LOW | c.8568C>T | p.Ser2856Ser | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 117/119 | 8631/9231 | 8568/8835 | 2856/2944 | chr3 | 48565161 | |||
| chr3:48565465 | G | A | 1 | a0001c0029 | 1 | HG01884.hp2 | synonymous_variant | LOW | c.8472C>T | p.Ala2824Ala | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 116/119 | 8535/9231 | 8472/8835 | 2824/2944 | chr3 | 48565465 | |||
| chr3:48570942 | G | T | 1 | a0001c0018 | 1 | HG01261.hp2 | synonymous_variant | LOW | c.7191C>A | p.Pro2397Pro | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 95/119 | 7254/9231 | 7191/8835 | 2397/2944 | chr3 | 48570942 | |||
| chr3:48572142 | C | T | 1 | a0001c0017 | 1 | NA18944.hp1 | synonymous_variant | LOW | c.7008G>A | p.Gly2336Gly | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 91/119 | 7071/9231 | 7008/8835 | 2336/2944 | chr3 | 48572142 | |||
| chr3:48573192 | G | T | 2 | a0002c0026 a0002c0027 |
2 | HG01109.hp2 HG02818.hp1 |
synonymous_variant | LOW | c.6696C>A | p.Pro2232Pro | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 85/119 | 6759/9231 | 6696/8835 | 2232/2944 | chr3 | 48573192 | |||
| chr3:48574713 | C | T | 1 | a0001c0030 | 1 | NA19083.hp1 | synonymous_variant | LOW | c.6357G>A | p.Pro2119Pro | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 78/119 | 6420/9231 | 6357/8835 | 2119/2944 | chr3 | 48574713 | |||
| chr3:48576291 | G | A | 1 | a0001c0029 | 1 | HG01884.hp2 | synonymous_variant | LOW | c.5778C>T | p.Leu1926Leu | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 71/119 | 5841/9231 | 5778/8835 | 1926/2944 | chr3 | 48576291 | |||
| chr3:48579492 | G | A | 1 | a0019c0021 | 1 | NA19030.hp2 | synonymous_variant | LOW | c.5259C>T | p.Pro1753Pro | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 60/119 | 5322/9231 | 5259/8835 | 1753/2944 | chr3 | 48579492 | |||
| chr3:48585072 | G | C | 1 | a0001c0022 | 1 | NA19012.hp2 | synonymous_variant | LOW | c.3939C>G | p.Ala1313Ala | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 33/119 | 4002/9231 | 3939/8835 | 1313/2944 | chr3 | 48585072 | |||
| chr3:48587833 | T | C | 26 | a0001c0001 a0001c0004 a0001c0017 others(23): Show |
173 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(170): Show |
synonymous_variant | LOW | c.2817A>G | p.Pro939Pro | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 22/119 | 2880/9231 | 2817/8835 | 939/2944 | chr3 | 48587833 | |||
| chr3:48588943 | G | A | 1 | a0002c0027 | 1 | HG02818.hp1 | synonymous_variant | LOW | c.2367C>T | p.Ser789Ser | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 19/119 | 2430/9231 | 2367/8835 | 789/2944 | chr3 | 48588943 | |||
| chr3:48589388 | C | T | 1 | a0001c0010 | 1 | NA19065.hp1 | synonymous_variant | LOW | c.2253G>A | p.Val751Val | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 18/119 | 2316/9231 | 2253/8835 | 751/2944 | chr3 | 48589388 | |||
| chr3:48591549 | G | A | 1 | a0001c0028 | 1 | HG00609.hp1 | synonymous_variant | LOW | c.1551C>T | p.Thr517Thr | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 13/119 | 1614/9231 | 1551/8835 | 517/2944 | chr3 | 48591549 | |||
| chr3:48591797 | T | C | 1 | a0001c0029 | 1 | HG01884.hp2 | synonymous_variant | LOW | c.1383A>G | p.Val461Val | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 12/119 | 1446/9231 | 1383/8835 | 461/2944 | chr3 | 48591797 | |||
| chr3:48593154 | G | A | 1 | a0001c0030 | 1 | NA19083.hp1 | synonymous_variant | LOW | c.630C>T | p.Leu210Leu | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 6/119 | 693/9231 | 630/8835 | 210/2944 | chr3 | 48593154 | |||
| chr3:48595106 | C | G | 1 | a0001c0004 | 3 | HG00738.hp2 HG01257.hp2 HG01258.hp1 |
synonymous_variant | LOW | c.54G>C | p.Ala18Ala | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 2/119 | 117/9231 | 54/8835 | 18/2944 | chr3 | 48595106 |
| view | chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr3:48564190 | C | G | 1 | a0002c0003t0004 | 1 | HG01106.hp1 | 3_prime_UTR_variant | MODIFIER | c.*216G>C | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 119/119 | 216 | chr3 | 48564190 | ||||||
| chr3:48564341 | A | G | 1 | a0001c0001t0002 | 3 | HG00323.hp2 HG01069.hp1 HG01071.hp2 |
3_prime_UTR_variant | MODIFIER | c.*65T>C | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 119/119 | 65 | chr3 | 48564341 | ||||||
| chr3:48595309 | C | CT | 1 | a0001c0001t0003 | 2 | HG03453.hp1 HG06807.hp1 |
5_prime_UTR_variant | MODIFIER | c.-44_-43insA | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 1/119 | 151 | chr3 | 48595309 | ||||||
| chr3:48595310 | G | C | 1 | a0001c0001t0003 | 2 | HG03453.hp1 HG06807.hp1 |
5_prime_UTR_variant | MODIFIER | c.-44C>G | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 1/119 | 151 | chr3 | 48595310 | ||||||
| chr3:48595311 | G | T | 1 | a0001c0001t0003 | 2 | HG03453.hp1 HG06807.hp1 |
5_prime_UTR_variant | MODIFIER | c.-45C>A | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 1/119 | 152 | chr3 | 48595311 | ||||||
| chr3:48595323 | A | C | 1 | a0001c0001t0002 | 3 | HG00323.hp2 HG01069.hp1 HG01071.hp2 |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-57T>G | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 1/119 | chr3 | 48595323 |
| view | chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr3:48564455 | C | G | 1 | a0003c0005t0001g0055 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.8819-33G>C | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 118/118 | chr3 | 48564455 | |||||||
| chr3:48564493 | G | A | 3 | a0010c0032t0001g0110 a0013c0033t0001g0111 a0019c0021t0001g0049 |
3 | HG02647.hp2 HG03098.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.8819-71C>T | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 118/118 | chr3 | 48564493 | |||||||
| chr3:48564526 | G | T | 1 | a0001c0001t0001g0065 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.8819-104C>A | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 118/118 | chr3 | 48564526 | |||||||
| chr3:48565086 | C | T | 1 | a0001c0001t0001g0084 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.8620+23G>A | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 117/118 | chr3 | 48565086 | |||||||
| chr3:48565307 | G | A | 1 | a0002c0003t0001g0096 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.8527+103C>T | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 116/118 | chr3 | 48565307 | |||||||
| chr3:48565321 | C | T | 1 | a0001c0001t0001g0099 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.8527+89G>A | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 116/118 | chr3 | 48565321 | |||||||
| chr3:48565763 | T | C | 1 | a0001c0001t0001g0086 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.8408-95A>G | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 114/118 | chr3 | 48565763 | |||||||
| chr3:48565789 | A | AACAG | 35 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(32): Show |
63 | HG00544.hp2 HG00609.hp1 HG01884.hp1 others(60): Show |
intron_variant | MODIFIER | c.8408-125_8408-122d others(6): Show |
COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 114/118 | chr3 | 48565789 | |||||||
| chr3:48565919 | C | G | 1 | a0001c0001t0001g0099 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.8408-251G>C | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 114/118 | chr3 | 48565919 | |||||||
| chr3:48566075 | C | A | 2 | a0002c0026t0001g0094 a0002c0027t0001g0098 |
2 | HG01109.hp2 HG02818.hp1 |
intron_variant | MODIFIER | c.8407+192G>T | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 114/118 | chr3 | 48566075 | |||||||
| chr3:48566334 | A | G | 8 | a0001c0001t0001g0046 a0001c0001t0001g0099 a0001c0001t0001g0102 others(5): Show |
8 | HG01884.hp2 HG02572.hp2 HG02647.hp2 others(5): Show |
intron_variant | MODIFIER | c.8359-19T>C | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 113/118 | chr3 | 48566334 | |||||||
| chr3:48566384 | A | G | 5 | a0001c0001t0001g0099 a0010c0032t0001g0110 a0012c0014t0001g0105 others(2): Show |
5 | HG02647.hp2 HG03041.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.8359-69T>C | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 113/118 | chr3 | 48566384 | |||||||
| chr3:48566583 | C | G | 1 | a0001c0001t0001g0008 | 5 | HG00639.hp2 HG01071.hp1 HG01099.hp1 others(2): Show |
intron_variant | MODIFIER | c.8305-20G>C | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 112/118 | chr3 | 48566583 | |||||||
| chr3:48566626 | G | A | 1 | a0001c0001t0001g0008 | 5 | HG00639.hp2 HG01071.hp1 HG01099.hp1 others(2): Show |
intron_variant | MODIFIER | c.8304+34C>T | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 112/118 | chr3 | 48566626 | |||||||
| chr3:48567194 | G | A | 1 | a0019c0021t0001g0049 | 1 | NA19030.hp2 | splice_region_variant&intron_variant | LOW | c.8047-4C>T | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 109/118 | chr3 | 48567194 | |||||||
| chr3:48567328 | T | C | 1 | a0001c0002t0001g0053 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.8047-138A>G | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 109/118 | chr3 | 48567328 | |||||||
| chr3:48567344 | T | A | 1 | a0010c0032t0001g0110 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.8047-154A>T | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 109/118 | chr3 | 48567344 | |||||||
| chr3:48567406 | T | C | 1 | a0001c0001t0001g0010 | 4 | HG02145.hp2 HG02257.hp2 HG02451.hp1 others(1): Show |
intron_variant | MODIFIER | c.8046+168A>G | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 109/118 | chr3 | 48567406 | |||||||
| chr3:48567642 | GA | G | 17 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(14): Show |
35 | HG00544.hp2 HG00609.hp1 HG01884.hp1 others(32): Show |
splice_region_variant&intron_variant | LOW | c.7984-7delT | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 108/118 | chr3 | 48567642 | |||||||
| chr3:48567790 | C | T | 1 | a0001c0001t0001g0069 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.7930-27G>A | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 107/118 | chr3 | 48567790 | |||||||
| chr3:48568362 | G | A | 1 | a0001c0001t0003g0029 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.7794+137C>T | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 105/118 | chr3 | 48568362 | |||||||
| chr3:48568632 | G | T | 11 | a0001c0001t0001g0006 a0001c0001t0001g0035 a0001c0001t0001g0036 others(8): Show |
18 | HG00639.hp1 HG00735.hp2 HG00738.hp2 others(15): Show |
intron_variant | MODIFIER | c.7759-98C>A | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 104/118 | chr3 | 48568632 | |||||||
| chr3:48568674 | G | A | 1 | a0001c0001t0001g0043 | 1 | NA19089.hp2 | intron_variant | MODIFIER | c.7758+110C>T | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 104/118 | chr3 | 48568674 | |||||||
| chr3:48568861 | G | A | 1 | a0001c0002t0001g0054 | 1 | HG04199.hp2 | splice_region_variant&intron_variant | LOW | c.7687-6C>T | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 103/118 | chr3 | 48568861 | |||||||
| chr3:48568947 | A | G | 1 | a0001c0001t0001g0024 | 2 | HG02132.hp2 NA18951.hp2 |
intron_variant | MODIFIER | c.7687-92T>C | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 103/118 | chr3 | 48568947 | |||||||
| chr3:48569242 | A | T | 1 | a0001c0002t0001g0059 | 1 | NA19064.hp1 | intron_variant | MODIFIER | c.7686+133T>A | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 103/118 | chr3 | 48569242 | |||||||
| chr3:48569268 | A | G | 23 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(20): Show |
41 | HG00544.hp2 HG00609.hp1 HG01884.hp1 others(38): Show |
intron_variant | MODIFIER | c.7686+107T>C | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 103/118 | chr3 | 48569268 | |||||||
| chr3:48569786 | C | T | 1 | a0012c0014t0001g0105 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.7522-26G>A | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 100/118 | chr3 | 48569786 | |||||||
| chr3:48569809 | A | G | 27 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(24): Show |
45 | HG00544.hp2 HG00609.hp1 HG01884.hp1 others(42): Show |
intron_variant | MODIFIER | c.7522-49T>C | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 100/118 | chr3 | 48569809 | |||||||
| chr3:48569842 | C | G | 1 | a0002c0003t0001g0090 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.7521+38G>C | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 100/118 | chr3 | 48569842 | |||||||
| chr3:48569848 | C | G | 2 | a0001c0001t0003g0028 a0001c0001t0003g0029 |
2 | HG03453.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.7521+32G>C | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 100/118 | chr3 | 48569848 | |||||||
| chr3:48570971 | G | A | 1 | a0001c0002t0001g0100 | 1 | HG01346.hp2 | splice_region_variant&intron_variant | LOW | c.7165-3C>T | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 94/118 | chr3 | 48570971 | |||||||
| chr3:48571073 | T | C | 35 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(32): Show |
63 | HG00544.hp2 HG00609.hp1 HG01884.hp1 others(60): Show |
intron_variant | MODIFIER | c.7164+28A>G | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 94/118 | chr3 | 48571073 | |||||||
| chr3:48571204 | G | A | 3 | a0010c0032t0001g0110 a0013c0033t0001g0111 a0019c0021t0001g0049 |
3 | HG02647.hp2 HG03098.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.7104+39C>T | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 93/118 | chr3 | 48571204 | |||||||
| chr3:48571562 | C | T | 1 | a0012c0014t0001g0105 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.7069-284G>A | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 92/118 | chr3 | 48571562 | |||||||
| chr3:48571586 | CAG | C | 4 | a0001c0001t0001g0003 a0001c0001t0001g0064 a0001c0001t0001g0087 others(1): Show |
10 | HG02258.hp1 HG02486.hp1 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.7069-310_7069-309d others(4): Show |
COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 92/118 | chr3 | 48571586 | |||||||
| chr3:48571608 | C | A | 1 | a0001c0001t0002g0014 | 3 | HG00323.hp2 HG01069.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.7069-330G>T | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 92/118 | chr3 | 48571608 | |||||||
| chr3:48571645 | G | A | 3 | a0001c0001t0001g0009 a0001c0001t0001g0070 a0018c0031t0001g0108 |
7 | HG02027.hp2 NA18984.hp2 NA18997.hp1 others(4): Show |
intron_variant | MODIFIER | c.7068+356C>T | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 92/118 | chr3 | 48571645 | |||||||
| chr3:48571765 | G | A | 5 | a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0048 others(2): Show |
12 | HG00544.hp2 HG02027.hp1 HG02040.hp1 others(9): Show |
intron_variant | MODIFIER | c.7068+236C>T | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 92/118 | chr3 | 48571765 | |||||||
| chr3:48571869 | C | T | 1 | a0001c0029t0001g0104 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.7068+132G>A | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 92/118 | chr3 | 48571869 | |||||||
| chr3:48571899 | G | A | 1 | a0012c0014t0001g0105 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.7068+102C>T | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 92/118 | chr3 | 48571899 | |||||||
| chr3:48572430 | G | C | 1 | a0001c0001t0001g0099 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.6937-9C>G | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 89/118 | chr3 | 48572430 | |||||||
| chr3:48572476 | C | A | 2 | a0001c0001t0001g0040 a0001c0001t0001g0041 |
2 | HG02922.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.6936+27G>T | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 89/118 | chr3 | 48572476 | |||||||
| chr3:48572839 | C | G | 2 | a0001c0001t0003g0028 a0001c0001t0003g0029 |
2 | HG03453.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.6831+23G>C | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 87/118 | chr3 | 48572839 | |||||||
| chr3:48573074 | G | A | 2 | a0001c0001t0001g0023 a0001c0001t0001g0065 |
3 | HG06807.hp2 NA20300.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.6715-18C>T | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 85/118 | chr3 | 48573074 | |||||||
| chr3:48573467 | A | T | 1 | a0001c0002t0001g0018 | 3 | HG01175.hp2 HG01257.hp1 HG01934.hp2 |
intron_variant | MODIFIER | c.6618+46T>A | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 83/118 | chr3 | 48573467 | |||||||
| chr3:48573492 | T | C | 24 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(21): Show |
44 | HG00544.hp2 HG00597.hp2 HG00609.hp1 others(41): Show |
intron_variant | MODIFIER | c.6618+21A>G | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 83/118 | chr3 | 48573492 | |||||||
| chr3:48573921 | T | A | 2 | a0001c0001t0001g0040 a0001c0001t0001g0041 |
2 | HG02922.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.6502-31A>T | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 80/118 | chr3 | 48573921 | |||||||
| chr3:48573957 | G | A | 16 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(13): Show |
34 | HG00544.hp2 HG00609.hp1 HG01884.hp1 others(31): Show |
intron_variant | MODIFIER | c.6502-67C>T | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 80/118 | chr3 | 48573957 | |||||||
| chr3:48574077 | CCACACAC others(19): Show |
C | 2 | a0001c0001t0001g0048 a0001c0002t0001g0052 |
2 | HG02074.hp2 HG03669.hp2 |
intron_variant | MODIFIER | c.6501+159_6501+184d others(28): Show |
COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 80/118 | chr3 | 48574077 | |||||||
| chr3:48574217 | C | T | 15 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(12): Show |
33 | HG00544.hp2 HG00609.hp1 HG01884.hp1 others(30): Show |
intron_variant | MODIFIER | c.6501+45G>A | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 80/118 | chr3 | 48574217 | |||||||
| chr3:48574367 | C | T | 1 | a0001c0001t0001g0066 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.6457-61G>A | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 79/118 | chr3 | 48574367 | |||||||
| chr3:48574897 | C | G | 1 | a0006c0025t0001g0089 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.6280-32G>C | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 76/118 | chr3 | 48574897 | |||||||
| chr3:48575024 | G | C | 1 | a0001c0001t0001g0099 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.6279+40C>G | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 76/118 | chr3 | 48575024 | |||||||
| chr3:48575038 | G | A | 5 | a0001c0001t0001g0006 a0001c0001t0001g0084 a0001c0001t0001g0085 others(2): Show |
12 | HG00639.hp1 HG00738.hp2 HG01081.hp1 others(9): Show |
intron_variant | MODIFIER | c.6279+26C>T | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 76/118 | chr3 | 48575038 | |||||||
| chr3:48575060 | T | A | 1 | a0001c0001t0001g0078 | 1 | HG03486.hp1 | splice_region_variant&intron_variant | LOW | c.6279+4A>T | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 76/118 | chr3 | 48575060 | |||||||
| chr3:48575132 | G | A | 1 | a0001c0001t0001g0010 | 4 | HG02145.hp2 HG02257.hp2 HG02451.hp1 others(1): Show |
splice_region_variant&intron_variant | LOW | c.6217-6C>T | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 75/118 | chr3 | 48575132 | |||||||
| chr3:48575188 | G | A | 2 | a0001c0002t0001g0056 a0011c0012t0001g0057 |
2 | HG02738.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.6216+19C>T | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 75/118 | chr3 | 48575188 | |||||||
| chr3:48575277 | T | TG | 7 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0037 others(4): Show |
11 | HG00544.hp2 HG02735.hp2 NA18940.hp1 others(8): Show |
intron_variant | MODIFIER | c.6181-36dupC | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 74/118 | chr3 | 48575277 | |||||||
| chr3:48575783 | C | T | 1 | a0012c0014t0001g0105 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.5857-35G>A | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 72/118 | chr3 | 48575783 | |||||||
| chr3:48575800 | T | C | 1 | a0012c0014t0001g0105 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.5857-52A>G | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 72/118 | chr3 | 48575800 | |||||||
| chr3:48575963 | G | A | 36 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(33): Show |
64 | HG00544.hp2 HG00609.hp1 HG01884.hp1 others(61): Show |
intron_variant | MODIFIER | c.5821-61C>T | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 71/118 | chr3 | 48575963 | |||||||
| chr3:48575966 | C | T | 1 | a0001c0001t0001g0042 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.5821-64G>A | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 71/118 | chr3 | 48575966 | |||||||
| chr3:48576145 | C | T | 1 | a0002c0003t0001g0093 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.5820+104G>A | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 71/118 | chr3 | 48576145 | |||||||
| chr3:48576466 | G | A | 1 | a0001c0001t0001g0043 | 1 | NA19089.hp2 | intron_variant | MODIFIER | c.5737-31C>T | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 69/118 | chr3 | 48576466 | |||||||
| chr3:48576977 | G | C | 1 | a0002c0003t0001g0092 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.5568+15C>G | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 66/118 | chr3 | 48576977 | |||||||
| chr3:48577137 | C | T | 2 | a0001c0001t0001g0011 a0001c0001t0001g0066 |
5 | HG01934.hp1 HG02109.hp2 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.5533-110G>A | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 65/118 | chr3 | 48577137 | |||||||
| chr3:48577256 | C | T | 1 | a0001c0001t0001g0040 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.5533-229G>A | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 65/118 | chr3 | 48577256 | |||||||
| chr3:48577503 | G | A | 1 | a0001c0001t0001g0079 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.5533-476C>T | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 65/118 | chr3 | 48577503 | |||||||
| chr3:48577529 | G | A | 1 | a0001c0001t0001g0065 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.5533-502C>T | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 65/118 | chr3 | 48577529 | |||||||
| chr3:48577633 | G | A | 1 | a0001c0002t0001g0058 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.5533-606C>T | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 65/118 | chr3 | 48577633 | |||||||
| chr3:48577829 | C | G | 1 | a0001c0029t0001g0104 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.5532+492G>C | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 65/118 | chr3 | 48577829 | |||||||
| chr3:48577990 | C | T | 1 | a0002c0003t0001g0092 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.5532+331G>A | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 65/118 | chr3 | 48577990 | |||||||
| chr3:48578200 | A | G | 1 | a0001c0001t0001g0072 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.5532+121T>C | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 65/118 | chr3 | 48578200 | |||||||
| chr3:48578215 | T | C | 1 | a0001c0001t0001g0067 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.5532+106A>G | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 65/118 | chr3 | 48578215 | |||||||
| chr3:48578229 | C | T | 1 | a0001c0002t0001g0052 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.5532+92G>A | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 65/118 | chr3 | 48578229 | |||||||
| chr3:48578401 | C | T | 1 | a0001c0002t0001g0051 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.5488-36G>A | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 64/118 | chr3 | 48578401 | |||||||
| chr3:48578858 | G | A | 2 | a0004c0006t0001g0068 a0004c0006t0001g0112 |
2 | HG00642.hp1 HG02145.hp1 |
intron_variant | MODIFIER | c.5424+61C>T | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 63/118 | chr3 | 48578858 | |||||||
| chr3:48579025 | C | T | 2 | a0010c0032t0001g0110 a0013c0033t0001g0111 |
2 | HG02647.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.5389-71G>A | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 62/118 | chr3 | 48579025 | |||||||
| chr3:48579058 | G | A | 8 | a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0001g0039 others(5): Show |
15 | HG02258.hp1 HG02486.hp1 HG02559.hp1 others(12): Show |
intron_variant | MODIFIER | c.5389-104C>T | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 62/118 | chr3 | 48579058 | |||||||
| chr3:48579340 | T | C | 3 | a0001c0001t0001g0012 a0001c0001t0001g0067 a0001c0001t0001g0080 |
6 | HG01099.hp2 HG01109.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.5307+29A>G | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 61/118 | chr3 | 48579340 | |||||||
| chr3:48579820 | G | A | 1 | a0001c0001t0001g0047 | 1 | HG03195.hp1 | splice_region_variant&intron_variant | LOW | c.5125-6C>T | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 57/118 | chr3 | 48579820 | |||||||
| chr3:48579910 | G | A | 1 | a0002c0003t0001g0097 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.5125-96C>T | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 57/118 | chr3 | 48579910 | |||||||
| chr3:48580183 | T | C | 3 | a0001c0002t0001g0059 a0001c0002t0001g0060 a0017c0011t0001g0050 |
3 | NA18964.hp2 NA18984.hp1 NA19064.hp1 |
intron_variant | MODIFIER | c.5097+117A>G | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 56/118 | chr3 | 48580183 | |||||||
| chr3:48580370 | A | G | 1 | a0021c0024t0001g0088 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.5053-26T>C | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 55/118 | chr3 | 48580370 | |||||||
| chr3:48581233 | A | G | 32 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(29): Show |
58 | HG00544.hp2 HG00609.hp1 HG01884.hp1 others(55): Show |
intron_variant | MODIFIER | c.4899+27T>C | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 52/118 | chr3 | 48581233 | |||||||
| chr3:48581375 | G | A | 1 | a0001c0001t0001g0099 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.4819-35C>T | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 51/118 | chr3 | 48581375 | |||||||
| chr3:48581995 | T | C | 3 | a0001c0001t0001g0099 a0001c0029t0001g0104 a0019c0021t0001g0049 |
3 | HG01884.hp2 HG03453.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.4636-52A>G | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 47/118 | chr3 | 48581995 | |||||||
| chr3:48582105 | T | G | 1 | a0001c0022t0001g0044 | 1 | NA19012.hp2 | intron_variant | MODIFIER | c.4636-162A>C | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 47/118 | chr3 | 48582105 | |||||||
| chr3:48582139 | G | A | 1 | a0001c0001t0001g0048 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.4635+184C>T | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 47/118 | chr3 | 48582139 | |||||||
| chr3:48582905 | T | C | 1 | a0001c0029t0001g0104 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.4518+108A>G | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 44/118 | chr3 | 48582905 | |||||||
| chr3:48583059 | A | G | 1 | a0002c0003t0001g0090 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.4483-11T>C | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 43/118 | chr3 | 48583059 | |||||||
| chr3:48583110 | C | A | 1 | a0001c0001t0001g0103 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.4482+17G>T | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 43/118 | chr3 | 48583110 | |||||||
| chr3:48583670 | G | A | 1 | a0001c0001t0001g0081 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.4341+48C>T | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 40/118 | chr3 | 48583670 | |||||||
| chr3:48584121 | G | A | 19 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(16): Show |
37 | HG00544.hp2 HG00609.hp1 HG01884.hp1 others(34): Show |
intron_variant | MODIFIER | c.4198-60C>T | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 37/118 | chr3 | 48584121 | |||||||
| chr3:48584160 | T | C | 19 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(16): Show |
37 | HG00544.hp2 HG00609.hp1 HG01884.hp1 others(34): Show |
intron_variant | MODIFIER | c.4198-99A>G | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 37/118 | chr3 | 48584160 | |||||||
| chr3:48584474 | C | T | 1 | a0001c0001t0001g0070 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.4119+11G>A | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 36/118 | chr3 | 48584474 | |||||||
| chr3:48585025 | G | A | 3 | a0010c0032t0001g0110 a0013c0033t0001g0111 a0019c0021t0001g0049 |
3 | HG02647.hp2 HG03098.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.3975+11C>T | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 33/118 | chr3 | 48585025 | |||||||
| chr3:48585247 | G | T | 1 | a0012c0014t0001g0105 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.3895-131C>A | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 32/118 | chr3 | 48585247 | |||||||
| chr3:48585271 | G | A | 4 | a0001c0001t0001g0005 a0001c0001t0001g0046 a0001c0001t0001g0047 others(1): Show |
9 | HG01884.hp1 HG02622.hp2 HG02630.hp1 others(6): Show |
intron_variant | MODIFIER | c.3895-155C>T | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 32/118 | chr3 | 48585271 | |||||||
| chr3:48585307 | C | T | 1 | a0012c0014t0001g0105 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.3895-191G>A | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 32/118 | chr3 | 48585307 | |||||||
| chr3:48585924 | G | A | 1 | a0001c0001t0001g0069 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.3759+16C>T | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 29/118 | chr3 | 48585924 | |||||||
| chr3:48586291 | C | T | 1 | a0001c0001t0001g0038 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.3550+41G>A | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 27/118 | chr3 | 48586291 | |||||||
| chr3:48586507 | G | A | 1 | a0001c0029t0001g0104 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.3404-29C>T | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 26/118 | chr3 | 48586507 | |||||||
| chr3:48587138 | G | A | 1 | a0001c0028t0001g0101 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.3140-30C>T | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 24/118 | chr3 | 48587138 | |||||||
| chr3:48587178 | C | T | 60 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(57): Show |
106 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(103): Show |
intron_variant | MODIFIER | c.3139+12G>A | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 24/118 | chr3 | 48587178 | |||||||
| chr3:48587658 | G | C | 1 | a0019c0021t0001g0049 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2858-104C>G | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 22/118 | chr3 | 48587658 | |||||||
| chr3:48588247 | A | C | 28 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(25): Show |
46 | HG00544.hp2 HG00609.hp1 HG01884.hp1 others(43): Show |
intron_variant | MODIFIER | c.2710+35T>G | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 21/118 | chr3 | 48588247 | |||||||
| chr3:48588459 | A | G | 1 | a0001c0001t0001g0033 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.2588-55T>C | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 20/118 | chr3 | 48588459 | |||||||
| chr3:48588489 | G | A | 1 | a0001c0002t0001g0083 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.2588-85C>T | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 20/118 | chr3 | 48588489 | |||||||
| chr3:48588578 | A | C | 1 | a0001c0001t0001g0037 | 1 | NA19070.hp2 | intron_variant | MODIFIER | c.2587+64T>G | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 20/118 | chr3 | 48588578 | |||||||
| chr3:48588593 | A | G | 2 | a0001c0001t0003g0028 a0001c0001t0003g0029 |
2 | HG03453.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.2587+49T>C | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 20/118 | chr3 | 48588593 | |||||||
| chr3:48588614 | G | A | 3 | a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0004t0001g0015 |
5 | HG00738.hp2 HG01081.hp1 HG01168.hp2 others(2): Show |
intron_variant | MODIFIER | c.2587+28C>T | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 20/118 | chr3 | 48588614 | |||||||
| chr3:48588806 | C | T | 1 | a0001c0029t0001g0104 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.2441-18G>A | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 19/118 | chr3 | 48588806 | |||||||
| chr3:48589124 | G | C | 2 | a0010c0032t0001g0110 a0013c0033t0001g0111 |
2 | HG02647.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.2315-129C>G | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 18/118 | chr3 | 48589124 | |||||||
| chr3:48589312 | C | T | 3 | a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0109 |
3 | HG00735.hp2 HG00741.hp1 HG01952.hp2 |
intron_variant | MODIFIER | c.2314+15G>A | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 18/118 | chr3 | 48589312 | |||||||
| chr3:48589596 | C | T | 1 | a0001c0001t0001g0033 | 1 | HG02647.hp1 | splice_region_variant&intron_variant | LOW | c.2170+3G>A | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 17/118 | chr3 | 48589596 | |||||||
| chr3:48590014 | G | A | 1 | a0001c0001t0001g0086 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.2050+199C>T | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 16/118 | chr3 | 48590014 | |||||||
| chr3:48590052 | G | A | 1 | a0001c0002t0001g0025 | 2 | HG02559.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.2050+161C>T | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 16/118 | chr3 | 48590052 | |||||||
| chr3:48590161 | G | A | 1 | a0001c0001t0001g0087 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.2050+52C>T | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 16/118 | chr3 | 48590161 | |||||||
| chr3:48591061 | T | C | 1 | a0001c0001t0001g0099 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1637-245A>G | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 13/118 | chr3 | 48591061 | |||||||
| chr3:48591206 | T | C | 1 | a0001c0002t0001g0100 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.1636+258A>G | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 13/118 | chr3 | 48591206 | |||||||
| chr3:48591847 | G | A | 3 | a0001c0001t0001g0013 a0001c0001t0001g0102 a0001c0001t0001g0103 |
6 | HG01074.hp1 HG02572.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.1358-25C>T | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 11/118 | chr3 | 48591847 | |||||||
| chr3:48592946 | T | C | 1 | a0001c0029t0001g0104 | 1 | HG01884.hp2 | splice_region_variant&intron_variant | LOW | c.683-8A>G | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 6/118 | chr3 | 48592946 | |||||||
| chr3:48593047 | T | G | 1 | a0012c0014t0001g0105 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.682+55A>C | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 6/118 | chr3 | 48593047 | |||||||
| chr3:48593062 | G | A | 1 | a0001c0001t0001g0106 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.682+40C>T | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 6/118 | chr3 | 48593062 | |||||||
| chr3:48593901 | G | A | 1 | a0001c0001t0001g0109 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.267-205C>T | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 3/118 | chr3 | 48593901 | |||||||
| chr3:48594315 | A | C | 2 | a0010c0032t0001g0110 a0013c0033t0001g0111 |
2 | HG02647.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.266+53T>G | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 3/118 | chr3 | 48594315 | |||||||
| chr3:48594366 | A | G | 1 | a0002c0003t0001g0030 | 1 | HG03017.hp2 | splice_donor_variant&intron_variant | HIGH | c.266+2T>C | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 3/118 | chr3 | 48594366 | |||||||
| chr3:48594964 | G | A | 1 | a0004c0006t0001g0112 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.85+111C>T | COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 2/118 | chr3 | 48594964 |