Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 1295 |
| ensemblid | ENSG00000144810.16 |
| hgncid | 2215 |
| symbol | COL8A1 |
| name | collagen type VIII alpha 1 chain |
| refseq_nuc | NM_020351.4 |
| refseq_prot | NP_065084.2 |
| ensembl_nuc | ENST00000652472.1 |
| ensembl_prot | ENSP00000498483.1 |
| mane_status | MANE Select |
| chr | chr3 |
| start | 99638594 |
| end | 99799217 |
| strand | + |
| ver | v1.2 |
| region | chr3:99638594-99799217 |
| region5000 | chr3:99633594-99804217 |
| regionname0 | COL8A1_chr3_99638594_99799217 |
| regionname5000 | COL8A1_chr3_99633594_99804217 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 744 | 261 | 74 | 52 | 84 | 12 | 37 | 60 | COL8A1_chr3_99633594_99804217 | COL8A1 | MAVLP others(739): Show |
chr3 | 99633594 | 99804217 |
| a0002 | 0/0 | 744 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | MAVLP others(739): Show |
chr3 | 99633594 | 99804217 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 2232 | 251 | 66 | 51 | 83 | 12 | 37 | COL8A1_chr3_99633594_99804217 | COL8A1 | ATGGC others(2227): Show |
chr3 | 99633594 | 99804217 | ||
| a0001c0002 | 0/0 | 2232 | 5 | 5 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | ATGGC others(2227): Show |
chr3 | 99633594 | 99804217 | ||
| a0001c0003 | 0/0 | 2232 | 2 | 2 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | ATGGC others(2227): Show |
chr3 | 99633594 | 99804217 | ||
| a0001c0004 | 0/0 | 2232 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | ATGGC others(2227): Show |
chr3 | 99633594 | 99804217 | ||
| a0001c0005 | 0/0 | 2232 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | ATGGC others(2227): Show |
chr3 | 99633594 | 99804217 | ||
| a0001c0007 | 0/0 | 2232 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | ATGGC others(2227): Show |
chr3 | 99633594 | 99804217 | ||
| a0002c0006 | 0/0 | 2232 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | ATGGC others(2227): Show |
chr3 | 99633594 | 99804217 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 5515 | 101 | 24 | 21 | 40 | 5 | 11 | COL8A1_chr3_99633594_99804217 | COL8A1 | GGATC others(5510): Show |
chr3 | 99633594 | 99804217 |
| a0001c0001t0002 | 1/0 | 5515 | 39 | 2 | 11 | 13 | 3 | 9 | COL8A1_chr3_99633594_99804217 | COL8A1 | GGATC others(5510): Show |
chr3 | 99633594 | 99804217 |
| a0001c0001t0003 | 0/0 | 5515 | 29 | 7 | 2 | 17 | 0 | 3 | COL8A1_chr3_99633594_99804217 | COL8A1 | GGATC others(5510): Show |
chr3 | 99633594 | 99804217 |
| a0001c0001t0004 | 0/0 | 5515 | 17 | 4 | 3 | 4 | 1 | 5 | COL8A1_chr3_99633594_99804217 | COL8A1 | GGATC others(5510): Show |
chr3 | 99633594 | 99804217 |
| a0001c0001t0005 | 0/0 | 5515 | 16 | 2 | 6 | 3 | 0 | 5 | COL8A1_chr3_99633594_99804217 | COL8A1 | GGATC others(5510): Show |
chr3 | 99633594 | 99804217 |
| a0001c0001t0006 | 0/0 | 5515 | 15 | 9 | 4 | 1 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | GGATC others(5510): Show |
chr3 | 99633594 | 99804217 |
| a0001c0001t0007 | 0/0 | 5515 | 6 | 5 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | GGATC others(5510): Show |
chr3 | 99633594 | 99804217 |
| a0001c0001t0009 | 0/0 | 5515 | 3 | 3 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | GGATC others(5510): Show |
chr3 | 99633594 | 99804217 |
| a0001c0001t0010 | 0/0 | 5515 | 3 | 0 | 1 | 0 | 0 | 2 | COL8A1_chr3_99633594_99804217 | COL8A1 | GGATC others(5510): Show |
chr3 | 99633594 | 99804217 |
| a0001c0001t0011 | 0/0 | 5507 | 3 | 3 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | GGATC others(5502): Show |
chr3 | 99633594 | 99804217 |
| a0001c0001t0012 | 0/0 | 5515 | 2 | 0 | 0 | 0 | 2 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | GGATC others(5510): Show |
chr3 | 99633594 | 99804217 |
| a0001c0001t0013 | 0/0 | 5515 | 2 | 2 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | GGATC others(5510): Show |
chr3 | 99633594 | 99804217 |
| a0001c0001t0014 | 0/0 | 5515 | 2 | 0 | 0 | 2 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | GGATC others(5510): Show |
chr3 | 99633594 | 99804217 |
| a0001c0001t0015 | 0/0 | 5515 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | GGATC others(5510): Show |
chr3 | 99633594 | 99804217 |
| a0001c0001t0016 | 0/0 | 5515 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | GGATC others(5510): Show |
chr3 | 99633594 | 99804217 |
| a0001c0001t0017 | 0/0 | 5515 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | GGATC others(5510): Show |
chr3 | 99633594 | 99804217 |
| a0001c0001t0018 | 0/0 | 5515 | 1 | 0 | 0 | 0 | 1 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | GGATC others(5510): Show |
chr3 | 99633594 | 99804217 |
| a0001c0001t0019 | 0/0 | 5515 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | GGATC others(5510): Show |
chr3 | 99633594 | 99804217 |
| a0001c0001t0020 | 0/0 | 5515 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | GGATC others(5510): Show |
chr3 | 99633594 | 99804217 |
| a0001c0001t0021 | 0/1 | 5511 | 1 | 0 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | GGATC others(5506): Show |
chr3 | 99633594 | 99804217 |
| a0001c0001t0023 | 0/0 | 5515 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | GGATC others(5510): Show |
chr3 | 99633594 | 99804217 |
| a0001c0001t0025 | 0/0 | 5515 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | GGATC others(5510): Show |
chr3 | 99633594 | 99804217 |
| a0001c0001t0026 | 0/0 | 5515 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | GGATC others(5510): Show |
chr3 | 99633594 | 99804217 |
| a0001c0001t0027 | 0/0 | 5515 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | GGATC others(5510): Show |
chr3 | 99633594 | 99804217 |
| a0001c0001t0028 | 0/0 | 5515 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | GGATC others(5510): Show |
chr3 | 99633594 | 99804217 |
| a0001c0001t0030 | 0/0 | 5515 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | GGATC others(5510): Show |
chr3 | 99633594 | 99804217 |
| a0001c0002t0008 | 0/0 | 5515 | 4 | 4 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | GGATC others(5510): Show |
chr3 | 99633594 | 99804217 |
| a0001c0002t0024 | 0/0 | 5515 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | GGATC others(5510): Show |
chr3 | 99633594 | 99804217 |
| a0001c0003t0022 | 0/0 | 5515 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | GGATC others(5510): Show |
chr3 | 99633594 | 99804217 |
| a0001c0003t0029 | 0/0 | 5515 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | GGATC others(5510): Show |
chr3 | 99633594 | 99804217 |
| a0001c0004t0004 | 0/0 | 5515 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | GGATC others(5510): Show |
chr3 | 99633594 | 99804217 |
| a0001c0005t0001 | 0/0 | 5515 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | GGATC others(5510): Show |
chr3 | 99633594 | 99804217 |
| a0001c0007t0001 | 0/0 | 5515 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | GGATC others(5510): Show |
chr3 | 99633594 | 99804217 |
| a0002c0006t0001 | 0/0 | 5515 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | GGATC others(5510): Show |
chr3 | 99633594 | 99804217 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0002 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0004 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0031 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0056 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0060 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0061 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0063 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0065 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0066 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0069 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0083 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0085 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0097 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0102 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0103 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0104 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0105 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0106 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0109 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0117 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0118 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0119 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0120 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0122 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0143 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0144 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0153 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0174 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0175 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0176 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0178 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0180 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0181 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0198 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0199 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0206 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0209 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0215 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0216 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0217 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0218 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0223 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0225 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0230 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0234 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0235 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0236 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0237 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0243 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0244 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0245 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0246 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0001g0252 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0001 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0010 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0018 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0026 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0049 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0125 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0131 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0132 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0134 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0135 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0148 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0154 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0167 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0168 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0169 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0170 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0177 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0202 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0227 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0232 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0238 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0239 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0240 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0242 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0247 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0248 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0249 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0250 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0002g0251 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0128 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0133 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0152 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0172 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0173 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0196 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0200 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0212 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0003g0258 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0004g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0004g0070 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0004g0071 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0004g0073 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0004g0074 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0004g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0004g0078 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0004g0093 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0004g0094 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0004g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0004g0157 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0004g0158 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0004g0201 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0004g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0004g0208 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0004g0214 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0004g0253 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0005g0014 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0005g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0005g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0005g0028 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0005g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0005g0059 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0005g0080 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0005g0089 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0005g0090 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0005g0091 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0005g0092 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0005g0126 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0005g0140 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0005g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0005g0224 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0005g0233 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0006g0027 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0006g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0006g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0006g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0006g0151 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0006g0156 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0006g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0006g0210 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0006g0211 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0006g0219 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0006g0221 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0006g0226 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0006g0228 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0006g0229 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0006g0256 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0007g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0007g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0007g0155 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0007g0166 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0007g0220 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0007g0255 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0009g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0009g0222 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0009g0257 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0010g0141 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0010g0142 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0010g0159 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0011g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0011g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0011g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0012g0003 | 0/0 | 2 | 0 | 0 | 0 | 2 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0013g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0013g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0014g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0014g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0015g0179 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0016g0241 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0017g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0018g0182 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0019g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0020g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0021g0081 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0023g0072 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0025g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0026g0015 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0027g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0028g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0001t0030g0231 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0002t0008g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0002t0008g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0002t0008g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0002t0008g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0002t0024g0197 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0003t0022g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0003t0029g0213 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0004t0004g0254 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0005t0001g0115 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0001c0007t0001g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| a0002c0006t0001g0087 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00140 | hp1 | a0001 | c0001 | t0002 | g0247 | EUR | GBR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG00140 | hp2 | a0001 | c0001 | t0001 | g0119 | EUR | GBR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG00280 | hp1 | a0001 | c0001 | t0002 | g0131 | EUR | FIN | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG00280 | hp2 | a0001 | c0001 | t0001 | g0103 | EUR | FIN | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG00323 | hp1 | a0001 | c0001 | t0001 | g0199 | EUR | FIN | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG00323 | hp2 | a0001 | c0001 | t0002 | g0168 | EUR | FIN | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG00438 | hp1 | a0001 | c0001 | t0014 | g0079 | EAS | CHS | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG00438 | hp2 | a0001 | c0001 | t0005 | g0171 | EAS | CHS | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG00544 | hp1 | a0001 | c0001 | t0001 | g0245 | EAS | CHS | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG00544 | hp2 | a0001 | c0001 | t0003 | g0184 | EAS | CHS | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG00558 | hp1 | a0001 | c0001 | t0001 | g0113 | EAS | CHS | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG00558 | hp2 | a0001 | c0001 | t0001 | g0244 | EAS | CHS | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG00597 | hp1 | a0001 | c0001 | t0003 | g0190 | EAS | CHS | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG00597 | hp2 | a0001 | c0001 | t0005 | g0024 | EAS | CHS | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG00639 | hp1 | a0001 | c0001 | t0006 | g0210 | AMR | PUR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG00639 | hp2 | a0001 | c0001 | t0001 | g0063 | AMR | PUR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG00735 | hp1 | a0001 | c0001 | t0001 | g0031 | AMR | PUR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG00735 | hp2 | a0001 | c0001 | t0004 | g0074 | AMR | PUR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG00738 | hp1 | a0001 | c0001 | t0002 | g0001 | AMR | PUR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG00738 | hp2 | a0001 | c0001 | t0005 | g0089 | AMR | PUR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG00741 | hp1 | a0001 | c0001 | t0005 | g0092 | AMR | PUR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG00741 | hp2 | a0001 | c0001 | t0002 | g0154 | AMR | PUR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01069 | hp1 | a0001 | c0001 | t0001 | g0174 | AMR | PUR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01069 | hp2 | a0001 | c0001 | t0002 | g0064 | AMR | PUR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01071 | hp1 | a0001 | c0001 | t0002 | g0001 | AMR | PUR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01071 | hp2 | a0001 | c0001 | t0001 | g0105 | AMR | PUR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01074 | hp1 | a0001 | c0001 | t0001 | g0097 | AMR | PUR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01074 | hp2 | a0001 | c0001 | t0010 | g0159 | AMR | PUR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01081 | hp1 | a0001 | c0001 | t0001 | g0198 | AMR | PUR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01081 | hp2 | a0001 | c0001 | t0001 | g0104 | AMR | PUR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01109 | hp1 | a0001 | c0001 | t0004 | g0070 | AMR | PUR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01109 | hp2 | a0001 | c0001 | t0001 | g0109 | AMR | PUR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01168 | hp1 | a0001 | c0001 | t0001 | g0060 | AMR | PUR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01168 | hp2 | a0001 | c0001 | t0004 | g0078 | AMR | PUR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01169 | hp1 | a0001 | c0001 | t0001 | g0068 | AMR | PUR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01169 | hp2 | a0001 | c0001 | t0001 | g0102 | AMR | PUR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01175 | hp1 | a0001 | c0001 | t0001 | g0085 | AMR | PUR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01175 | hp2 | a0001 | c0001 | t0001 | g0056 | AMR | PUR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01192 | hp1 | a0001 | c0001 | t0002 | g0026 | AMR | PUR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01192 | hp2 | a0001 | c0001 | t0001 | g0153 | AMR | PUR | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01256 | hp1 | a0001 | c0001 | t0005 | g0059 | AMR | CLM | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01256 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | CLM | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01257 | hp1 | a0001 | c0001 | t0003 | g0172 | AMR | CLM | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01257 | hp2 | a0001 | c0001 | t0001 | g0062 | AMR | CLM | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01258 | hp1 | a0001 | c0001 | t0003 | g0173 | AMR | CLM | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01258 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | CLM | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01346 | hp1 | a0001 | c0001 | t0001 | g0066 | AMR | CLM | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01346 | hp2 | a0001 | c0001 | t0005 | g0014 | AMR | CLM | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01361 | hp1 | a0001 | c0001 | t0005 | g0080 | AMR | CLM | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01361 | hp2 | a0001 | c0001 | t0002 | g0170 | AMR | CLM | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01433 | hp1 | a0001 | c0001 | t0002 | g0057 | AMR | CLM | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01433 | hp2 | a0001 | c0001 | t0005 | g0058 | AMR | CLM | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01516 | hp1 | a0001 | c0001 | t0001 | g0122 | EUR | IBS | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01516 | hp2 | a0001 | c0001 | t0012 | g0003 | EUR | IBS | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01517 | hp1 | a0001 | c0001 | t0012 | g0003 | EUR | IBS | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01517 | hp2 | a0001 | c0001 | t0018 | g0182 | EUR | IBS | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01891 | hp1 | a0001 | c0001 | t0001 | g0048 | AFR | ACB | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01891 | hp2 | a0001 | c0001 | t0030 | g0231 | AFR | ACB | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01934 | hp1 | a0001 | c0001 | t0006 | g0027 | AMR | PEL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01934 | hp2 | a0001 | c0001 | t0015 | g0179 | AMR | PEL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01943 | hp1 | a0001 | c0001 | t0002 | g0227 | AMR | PEL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01943 | hp2 | a0001 | c0001 | t0001 | g0143 | AMR | PEL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01952 | hp1 | a0001 | c0001 | t0001 | g0083 | AMR | PEL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01952 | hp2 | a0001 | c0001 | t0007 | g0025 | AMR | PEL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01975 | hp1 | a0001 | c0001 | t0002 | g0135 | AMR | PEL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01975 | hp2 | a0001 | c0001 | t0001 | g0217 | AMR | PEL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01978 | hp1 | a0001 | c0001 | t0006 | g0228 | AMR | PEL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG01978 | hp2 | a0001 | c0001 | t0023 | g0072 | AMR | PEL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02027 | hp1 | a0001 | c0001 | t0003 | g0185 | EAS | KHV | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02027 | hp2 | a0001 | c0001 | t0016 | g0241 | EAS | KHV | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02055 | hp1 | a0001 | c0001 | t0001 | g0225 | AFR | ACB | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02055 | hp2 | a0001 | c0001 | t0002 | g0232 | AFR | ACB | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02071 | hp1 | a0001 | c0001 | t0001 | g0243 | EAS | KHV | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02071 | hp2 | a0001 | c0001 | t0002 | g0127 | EAS | KHV | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02080 | hp1 | a0001 | c0001 | t0001 | g0145 | EAS | KHV | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02080 | hp2 | a0001 | c0001 | t0014 | g0075 | EAS | KHV | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02083 | hp1 | a0001 | c0001 | t0002 | g0250 | EAS | KHV | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02083 | hp2 | a0001 | c0001 | t0001 | g0095 | EAS | KHV | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02129 | hp1 | a0001 | c0001 | t0004 | g0012 | EAS | KHV | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02129 | hp2 | a0001 | c0001 | t0002 | g0238 | EAS | KHV | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02132 | hp1 | a0001 | c0001 | t0001 | g0030 | EAS | KHV | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02132 | hp2 | a0001 | c0001 | t0002 | g0240 | EAS | KHV | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02145 | hp1 | a0001 | c0001 | t0001 | g0218 | AFR | ACB | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02145 | hp2 | a0001 | c0001 | t0001 | g0067 | AFR | ACB | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02148 | hp1 | a0001 | c0005 | t0001 | g0115 | AMR | PEL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02148 | hp2 | a0001 | c0001 | t0002 | g0202 | AMR | PEL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02257 | hp1 | a0001 | c0003 | t0022 | g0011 | AFR | ACB | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02257 | hp2 | a0001 | c0001 | t0028 | g0139 | AFR | ACB | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02280 | hp1 | a0001 | c0001 | t0006 | g0156 | AFR | ACB | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02280 | hp2 | a0001 | c0001 | t0001 | g0176 | AFR | ACB | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02293 | hp1 | a0001 | c0001 | t0002 | g0169 | AMR | PEL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02293 | hp2 | a0001 | c0001 | t0006 | g0229 | AMR | PEL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02523 | hp1 | a0001 | c0001 | t0001 | g0008 | EAS | KHV | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02523 | hp2 | a0001 | c0001 | t0027 | g0191 | EAS | KHV | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02602 | hp1 | a0001 | c0001 | t0001 | g0069 | SAS | PJL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02602 | hp2 | a0001 | c0001 | t0003 | g0133 | SAS | PJL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02615 | hp1 | a0001 | c0001 | t0003 | g0212 | AFR | GWD | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02615 | hp2 | a0001 | c0001 | t0001 | g0043 | AFR | GWD | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02630 | hp1 | a0001 | c0001 | t0001 | g0038 | AFR | GWD | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02630 | hp2 | a0001 | c0002 | t0008 | g0042 | AFR | GWD | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02683 | hp1 | a0001 | c0001 | t0004 | g0094 | SAS | PJL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02683 | hp2 | a0001 | c0001 | t0001 | g0061 | SAS | PJL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02698 | hp1 | a0001 | c0001 | t0001 | g0118 | SAS | PJL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02698 | hp2 | a0001 | c0001 | t0002 | g0134 | SAS | PJL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02717 | hp1 | a0001 | c0001 | t0005 | g0224 | AFR | GWD | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02717 | hp2 | a0001 | c0001 | t0001 | g0051 | AFR | GWD | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02723 | hp1 | a0001 | c0001 | t0005 | g0233 | AFR | GWD | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02723 | hp2 | a0001 | c0001 | t0009 | g0257 | AFR | GWD | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02735 | hp1 | a0001 | c0001 | t0003 | g0152 | SAS | PJL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02735 | hp2 | a0001 | c0001 | t0002 | g0132 | SAS | PJL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02738 | hp1 | a0001 | c0001 | t0005 | g0090 | SAS | PJL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02738 | hp2 | a0001 | c0001 | t0002 | g0148 | SAS | PJL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02809 | hp1 | a0001 | c0001 | t0011 | g0047 | AFR | GWD | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02809 | hp2 | a0001 | c0001 | t0001 | g0235 | AFR | GWD | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02818 | hp1 | a0001 | c0001 | t0006 | g0207 | AFR | GWD | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02818 | hp2 | a0001 | c0001 | t0003 | g0050 | AFR | GWD | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02886 | hp1 | a0001 | c0001 | t0013 | g0021 | AFR | GWD | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02886 | hp2 | a0001 | c0001 | t0006 | g0211 | AFR | GWD | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02895 | hp1 | a0001 | c0001 | t0004 | g0208 | AFR | GWD | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02895 | hp2 | a0001 | c0001 | t0006 | g0151 | AFR | GWD | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02896 | hp1 | a0001 | c0001 | t0003 | g0150 | AFR | GWD | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02896 | hp2 | a0001 | c0001 | t0003 | g0084 | AFR | GWD | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02922 | hp1 | a0001 | c0001 | t0001 | g0034 | AFR | ESN | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02922 | hp2 | a0001 | c0001 | t0007 | g0045 | AFR | ESN | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02970 | hp1 | a0001 | c0003 | t0029 | g0213 | AFR | ESN | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02970 | hp2 | a0001 | c0001 | t0007 | g0155 | AFR | ESN | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02976 | hp1 | a0001 | c0001 | t0006 | g0256 | AFR | ESN | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02976 | hp2 | a0001 | c0001 | t0004 | g0201 | AFR | ESN | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03017 | hp1 | a0001 | c0001 | t0001 | g0106 | SAS | PJL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03017 | hp2 | a0001 | c0001 | t0002 | g0251 | SAS | PJL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03041 | hp1 | a0001 | c0001 | t0001 | g0223 | AFR | GWD | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03041 | hp2 | a0001 | c0001 | t0007 | g0255 | AFR | GWD | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03098 | hp1 | a0001 | c0001 | t0001 | g0175 | AFR | MSL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03098 | hp2 | a0001 | c0001 | t0001 | g0216 | AFR | MSL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03139 | hp1 | a0001 | c0002 | t0024 | g0197 | AFR | ESN | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03139 | hp2 | a0001 | c0001 | t0006 | g0046 | AFR | ESN | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03209 | hp1 | a0001 | c0001 | t0011 | g0205 | AFR | MSL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03209 | hp2 | a0001 | c0001 | t0004 | g0157 | AFR | MSL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03225 | hp1 | a0001 | c0001 | t0001 | g0209 | AFR | MSL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03225 | hp2 | a0001 | c0001 | t0001 | g0236 | AFR | MSL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03239 | hp1 | a0001 | c0001 | t0006 | g0221 | SAS | PJL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03239 | hp2 | a0001 | c0001 | t0005 | g0140 | SAS | PJL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03486 | hp1 | a0001 | c0001 | t0019 | g0037 | AFR | MSL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03486 | hp2 | a0001 | c0001 | t0003 | g0149 | AFR | MSL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03492 | hp1 | a0001 | c0001 | t0004 | g0214 | SAS | PJL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03492 | hp2 | a0001 | c0001 | t0002 | g0177 | SAS | PJL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03516 | hp1 | a0001 | c0001 | t0009 | g0052 | AFR | ESN | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03516 | hp2 | a0001 | c0002 | t0008 | g0041 | AFR | ESN | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03540 | hp1 | a0001 | c0001 | t0001 | g0053 | AFR | GWD | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03540 | hp2 | a0001 | c0001 | t0003 | g0258 | AFR | GWD | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03579 | hp1 | a0001 | c0002 | t0008 | g0040 | AFR | MSL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03579 | hp2 | a0001 | c0001 | t0001 | g0006 | AFR | MSL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03654 | hp1 | a0001 | c0001 | t0002 | g0249 | SAS | PJL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03654 | hp2 | a0001 | c0001 | t0001 | g0181 | SAS | PJL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03669 | hp1 | a0001 | c0001 | t0001 | g0065 | SAS | PJL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03669 | hp2 | a0001 | c0001 | t0005 | g0091 | SAS | PJL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03704 | hp1 | a0001 | c0001 | t0001 | g0180 | SAS | PJL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03704 | hp2 | a0001 | c0001 | t0004 | g0071 | SAS | PJL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03831 | hp1 | a0001 | c0001 | t0001 | g0117 | SAS | BEB | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03831 | hp2 | a0001 | c0001 | t0004 | g0158 | SAS | BEB | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03834 | hp1 | a0001 | c0001 | t0001 | g0215 | SAS | BEB | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03834 | hp2 | a0001 | c0001 | t0002 | g0018 | SAS | BEB | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03927 | hp1 | a0001 | c0001 | t0010 | g0142 | SAS | BEB | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03927 | hp2 | a0002 | c0006 | t0001 | g0087 | SAS | BEB | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG04115 | hp1 | a0001 | c0001 | t0005 | g0126 | SAS | STU | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG04115 | hp2 | a0001 | c0001 | t0010 | g0141 | SAS | STU | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG04184 | hp1 | a0001 | c0001 | t0026 | g0015 | SAS | BEB | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG04184 | hp2 | a0001 | c0001 | t0001 | g0252 | SAS | BEB | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG04204 | hp1 | a0001 | c0001 | t0002 | g0167 | SAS | STU | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG04204 | hp2 | a0001 | c0001 | t0004 | g0093 | SAS | STU | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG04228 | hp1 | a0001 | c0001 | t0001 | g0120 | SAS | STU | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG04228 | hp2 | a0001 | c0001 | t0003 | g0128 | SAS | STU | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18522 | hp1 | a0001 | c0001 | t0001 | g0206 | AFR | YRI | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18522 | hp2 | a0001 | c0001 | t0013 | g0020 | AFR | YRI | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18612 | hp1 | a0001 | c0001 | t0002 | g0248 | EAS | CHB | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18612 | hp2 | a0001 | c0001 | t0001 | g0096 | EAS | CHB | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18906 | hp1 | a0001 | c0001 | t0001 | g0044 | AFR | YRI | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18906 | hp2 | a0001 | c0001 | t0007 | g0220 | AFR | YRI | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18942 | hp1 | a0001 | c0001 | t0004 | g0076 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18942 | hp2 | a0001 | c0001 | t0003 | g0196 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18943 | hp1 | a0001 | c0001 | t0002 | g0164 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18943 | hp2 | a0001 | c0007 | t0001 | g0082 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18952 | hp1 | a0001 | c0001 | t0005 | g0019 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18952 | hp2 | a0001 | c0001 | t0003 | g0194 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18953 | hp1 | a0001 | c0001 | t0001 | g0162 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18953 | hp2 | a0001 | c0001 | t0001 | g0237 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18959 | hp1 | a0001 | c0001 | t0001 | g0029 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18959 | hp2 | a0001 | c0001 | t0002 | g0160 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18964 | hp1 | a0001 | c0001 | t0002 | g0161 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18964 | hp2 | a0001 | c0001 | t0001 | g0100 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18969 | hp1 | a0001 | c0001 | t0003 | g0192 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18969 | hp2 | a0001 | c0001 | t0002 | g0136 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18971 | hp1 | a0001 | c0001 | t0001 | g0054 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18971 | hp2 | a0001 | c0001 | t0003 | g0130 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18973 | hp1 | a0001 | c0001 | t0001 | g0101 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18973 | hp2 | a0001 | c0001 | t0002 | g0163 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18980 | hp1 | a0001 | c0001 | t0003 | g0186 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18980 | hp2 | a0001 | c0001 | t0001 | g0098 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18981 | hp1 | a0001 | c0001 | t0002 | g0242 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18981 | hp2 | a0001 | c0001 | t0025 | g0017 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18983 | hp1 | a0001 | c0001 | t0001 | g0023 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18983 | hp2 | a0001 | c0001 | t0001 | g0107 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18986 | hp1 | a0001 | c0001 | t0001 | g0146 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18986 | hp2 | a0001 | c0001 | t0001 | g0165 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18990 | hp1 | a0001 | c0001 | t0001 | g0137 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA18990 | hp2 | a0001 | c0001 | t0003 | g0188 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19001 | hp1 | a0001 | c0001 | t0001 | g0114 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19001 | hp2 | a0001 | c0001 | t0001 | g0036 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19004 | hp1 | a0001 | c0001 | t0003 | g0088 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19004 | hp2 | a0001 | c0001 | t0003 | g0195 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19007 | hp1 | a0001 | c0001 | t0002 | g0239 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19007 | hp2 | a0001 | c0001 | t0006 | g0129 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19009 | hp1 | a0001 | c0001 | t0001 | g0111 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19009 | hp2 | a0001 | c0001 | t0003 | g0193 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19011 | hp1 | a0001 | c0001 | t0001 | g0108 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19011 | hp2 | a0001 | c0001 | t0001 | g0035 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19030 | hp1 | a0001 | c0001 | t0006 | g0226 | AFR | LWK | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19030 | hp2 | a0001 | c0001 | t0006 | g0219 | AFR | LWK | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19043 | hp1 | a0001 | c0001 | t0003 | g0032 | AFR | LWK | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19043 | hp2 | a0001 | c0001 | t0004 | g0253 | AFR | LWK | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19054 | hp1 | a0001 | c0001 | t0001 | g0112 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19054 | hp2 | a0001 | c0001 | t0003 | g0183 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19056 | hp1 | a0001 | c0001 | t0001 | g0110 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19056 | hp2 | a0001 | c0001 | t0004 | g0121 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19063 | hp1 | a0001 | c0001 | t0001 | g0004 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19063 | hp2 | a0001 | c0001 | t0003 | g0203 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19064 | hp1 | a0001 | c0001 | t0001 | g0124 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19064 | hp2 | a0001 | c0001 | t0003 | g0200 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19066 | hp1 | a0001 | c0001 | t0001 | g0055 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19066 | hp2 | a0001 | c0001 | t0001 | g0016 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19074 | hp1 | a0001 | c0001 | t0001 | g0077 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19074 | hp2 | a0001 | c0001 | t0004 | g0204 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19075 | hp1 | a0001 | c0001 | t0001 | g0004 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19075 | hp2 | a0001 | c0001 | t0001 | g0022 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19079 | hp1 | a0001 | c0001 | t0003 | g0189 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19079 | hp2 | a0001 | c0001 | t0001 | g0099 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19085 | hp1 | a0001 | c0001 | t0001 | g0116 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19085 | hp2 | a0001 | c0001 | t0001 | g0013 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19088 | hp1 | a0001 | c0001 | t0002 | g0007 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19088 | hp2 | a0001 | c0001 | t0001 | g0147 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19091 | hp1 | a0001 | c0001 | t0001 | g0246 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA19091 | hp2 | a0001 | c0001 | t0003 | g0187 | EAS | JPT | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA20129 | hp1 | a0001 | c0001 | t0001 | g0178 | AFR | ASW | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA20129 | hp2 | a0001 | c0001 | t0017 | g0086 | AFR | ASW | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA20752 | hp1 | a0001 | c0001 | t0001 | g0144 | EUR | TSI | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA20752 | hp2 | a0001 | c0001 | t0004 | g0073 | EUR | TSI | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA20905 | hp1 | a0001 | c0001 | t0002 | g0010 | SAS | GIH | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA20905 | hp2 | a0001 | c0001 | t0005 | g0028 | SAS | GIH | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02109 | hp1 | a0001 | c0002 | t0008 | g0039 | AFR | ACB | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02109 | hp2 | a0001 | c0001 | t0009 | g0222 | AFR | ACB | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02486 | hp1 | a0001 | c0001 | t0020 | g0123 | AFR | ACB | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02486 | hp2 | a0001 | c0001 | t0007 | g0166 | AFR | ACB | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02559 | hp1 | a0001 | c0001 | t0001 | g0033 | AFR | ACB | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG02559 | hp2 | a0001 | c0001 | t0006 | g0138 | AFR | ACB | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03471 | hp1 | a0001 | c0001 | t0011 | g0005 | AFR | MSL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| HG03471 | hp2 | a0001 | c0001 | t0001 | g0230 | AFR | MSL | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA20300 | hp1 | a0001 | c0004 | t0004 | g0254 | AFR | USA | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA20300 | hp2 | a0001 | c0001 | t0001 | g0234 | AFR | USA | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA21309 | hp1 | a0001 | c0001 | t0001 | g0009 | AFR | LWK | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| NA21309 | hp2 | a0001 | c0001 | t0002 | g0125 | AFR | LWK | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| homoSapiens | chm13v2 | a0001 | c0001 | t0021 | g0081 | REF | REF | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| homoSapiens | grch38p0 | a0001 | c0001 | t0002 | g0049 | REF | REF | COL8A1_chr3_99633594_99804217 | COL8A1 | chr3 | 99633594 | 99804217 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr3:99795130 | C | G | 1 | a0002 | 1 | HG03927.hp2 | missense_variant | MODERATE | c.1229C>G | p.Pro410Arg | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 1428/5515 | 1229/2235 | 410/744 | chr3 | 99795130 | |||
| chr3:99795584 | C | CCCAGGCC others(2): Show |
1 | a0001 | 5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
disruptive_inframe_insertion | MODERATE | c.1689_1697dupCCCTCC others(3): Show |
p.Gly566_Pro567insPr others(7): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 1897/5515 | 1698/2235 | 566/744 | INFO_REALIGN_3_PRIME | chr3 | 99795584 | ||
| chr3:99795590 | CCCTCCAG others(2): Show |
C | 1 | a0001 | 5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
disruptive_inframe_deletion | MODERATE | c.1701_1709delTCCAGG others(3): Show |
p.Pro568_Pro570del | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 1900/5515 | 1701/2235 | 567/744 | INFO_REALIGN_3_PRIME | chr3 | 99795590 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr3:99794801 | T | A | 1 | a0001c0004 | 1 | NA20300.hp1 | synonymous_variant | LOW | c.900T>A | p.Pro300Pro | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 1099/5515 | 900/2235 | 300/744 | chr3 | 99794801 | |||
| chr3:99794913 | C | T | 1 | a0001c0002 | 5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
synonymous_variant | LOW | c.1012C>T | p.Leu338Leu | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 1211/5515 | 1012/2235 | 338/744 | chr3 | 99794913 | |||
| chr3:99794939 | C | T | 1 | a0001c0007 | 1 | NA18943.hp2 | synonymous_variant | LOW | c.1038C>T | p.Gly346Gly | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 1237/5515 | 1038/2235 | 346/744 | chr3 | 99794939 | |||
| chr3:99795338 | C | T | 1 | a0001c0003 | 2 | HG02257.hp1 HG02970.hp1 |
synonymous_variant | LOW | c.1437C>T | p.Leu479Leu | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 1636/5515 | 1437/2235 | 479/744 | chr3 | 99795338 | |||
| chr3:99795647 | A | C | 1 | a0001c0005 | 1 | HG02148.hp1 | synonymous_variant | LOW | c.1746A>C | p.Gly582Gly | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 1945/5515 | 1746/2235 | 582/744 | chr3 | 99795647 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr3:99744966 | G | T | 12 | a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(9): Show |
66 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(63): Show |
5_prime_UTR_variant | MODIFIER | c.-59G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/4 | 45717 | chr3 | 99744966 | ||||||
| chr3:99744988 | T | C | 1 | a0001c0001t0026 | 1 | HG04184.hp1 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-37T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/4 | chr3 | 99744988 | |||||||
| chr3:99796237 | C | T | 2 | a0001c0001t0011 a0001c0001t0030 |
4 | HG01891.hp2 HG02809.hp1 HG03209.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*101C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 101 | chr3 | 99796237 | ||||||
| chr3:99796325 | C | G | 1 | a0001c0001t0025 | 1 | NA18981.hp2 | 3_prime_UTR_variant | MODIFIER | c.*189C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 189 | chr3 | 99796325 | ||||||
| chr3:99796350 | A | G | 1 | a0001c0001t0007 | 6 | HG01952.hp2 HG02486.hp2 HG02922.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*214A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 214 | chr3 | 99796350 | ||||||
| chr3:99796490 | C | T | 2 | a0001c0002t0008 a0001c0002t0024 |
5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*354C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 354 | chr3 | 99796490 | ||||||
| chr3:99796527 | T | C | 1 | a0001c0001t0030 | 1 | HG01891.hp2 | 3_prime_UTR_variant | MODIFIER | c.*391T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 391 | chr3 | 99796527 | ||||||
| chr3:99796712 | A | G | 2 | a0001c0001t0005 a0001c0001t0014 |
18 | HG00438.hp1 HG00438.hp2 HG00597.hp2 others(15): Show |
3_prime_UTR_variant | MODIFIER | c.*576A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 576 | chr3 | 99796712 | ||||||
| chr3:99796876 | G | A | 1 | a0001c0001t0012 | 2 | HG01516.hp2 HG01517.hp1 |
3_prime_UTR_variant | MODIFIER | c.*740G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 740 | chr3 | 99796876 | ||||||
| chr3:99796906 | A | G | 21 | a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(18): Show |
188 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(185): Show |
3_prime_UTR_variant | MODIFIER | c.*770A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 770 | chr3 | 99796906 | ||||||
| chr3:99797216 | C | T | 1 | a0001c0001t0023 | 1 | HG01978.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1080C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 1080 | chr3 | 99797216 | ||||||
| chr3:99797248 | A | G | 2 | a0001c0001t0011 a0001c0001t0030 |
4 | HG01891.hp2 HG02809.hp1 HG03209.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*1112A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 1112 | chr3 | 99797248 | ||||||
| chr3:99797335 | C | T | 2 | a0001c0003t0022 a0001c0003t0029 |
2 | HG02257.hp1 HG02970.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1199C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 1199 | chr3 | 99797335 | ||||||
| chr3:99797425 | C | A | 2 | a0001c0003t0022 a0001c0003t0029 |
2 | HG02257.hp1 HG02970.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1289C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 1289 | chr3 | 99797425 | ||||||
| chr3:99797534 | A | C | 1 | a0001c0001t0030 | 1 | HG01891.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1398A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 1398 | chr3 | 99797534 | ||||||
| chr3:99797742 | G | A | 1 | a0001c0001t0019 | 1 | HG03486.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1606G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 1606 | chr3 | 99797742 | ||||||
| chr3:99797812 | C | T | 1 | a0001c0001t0007 | 6 | HG01952.hp2 HG02486.hp2 HG02922.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*1676C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 1676 | chr3 | 99797812 | ||||||
| chr3:99797847 | C | G | 2 | a0001c0001t0011 a0001c0001t0030 |
4 | HG01891.hp2 HG02809.hp1 HG03209.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*1711C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 1711 | chr3 | 99797847 | ||||||
| chr3:99798002 | G | A | 1 | a0001c0001t0020 | 1 | HG02486.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1866G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 1866 | chr3 | 99798002 | ||||||
| chr3:99798035 | A | G | 14 | a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 others(11): Show |
66 | HG00544.hp2 HG00597.hp1 HG00639.hp1 others(63): Show |
3_prime_UTR_variant | MODIFIER | c.*1899A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 1899 | chr3 | 99798035 | ||||||
| chr3:99798035 | A | T | 13 | a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(10): Show |
133 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(130): Show |
3_prime_UTR_variant | MODIFIER | c.*1899A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 1899 | chr3 | 99798035 | ||||||
| chr3:99798061 | G | A | 1 | a0001c0001t0015 | 1 | HG01934.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1925G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 1925 | chr3 | 99798061 | ||||||
| chr3:99798117 | T | C | 1 | a0001c0002t0008 | 4 | HG02109.hp1 HG02630.hp2 HG03516.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*1981T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 1981 | chr3 | 99798117 | ||||||
| chr3:99798118 | C | A | 13 | a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(10): Show |
133 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(130): Show |
3_prime_UTR_variant | MODIFIER | c.*1982C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 1982 | chr3 | 99798118 | ||||||
| chr3:99798237 | G | A | 1 | a0001c0001t0011 | 3 | HG02809.hp1 HG03209.hp1 HG03471.hp1 |
3_prime_UTR_variant | MODIFIER | c.*2101G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 2101 | chr3 | 99798237 | ||||||
| chr3:99798336 | T | C | 1 | a0001c0001t0027 | 1 | HG02523.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2200T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 2200 | chr3 | 99798336 | ||||||
| chr3:99798430 | T | C | 1 | a0001c0001t0028 | 1 | HG02257.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2294T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 2294 | chr3 | 99798430 | ||||||
| chr3:99798614 | ATATATGT others(1): Show |
A | 1 | a0001c0001t0011 | 3 | HG02809.hp1 HG03209.hp1 HG03471.hp1 |
3_prime_UTR_variant | MODIFIER | c.*2480_*2487delATAT others(4): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 2480 | INFO_REALIGN_3_PRIME | chr3 | 99798614 | |||||
| chr3:99798616 | ATATG | A | 5 | a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(2): Show |
17 | HG01952.hp1 HG01952.hp2 HG02257.hp2 others(14): Show |
3_prime_UTR_variant | MODIFIER | c.*2482_*2485delATGT | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 2482 | INFO_REALIGN_3_PRIME | chr3 | 99798616 | |||||
| chr3:99798616 | ATATGTG | A | 2 | a0001c0001t0001 a0001c0001t0012 |
3 | HG01516.hp2 HG01517.hp1 HG02055.hp1 |
3_prime_UTR_variant | MODIFIER | c.*2482_*2487delATGT others(2): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 2482 | INFO_REALIGN_3_PRIME | chr3 | 99798616 | |||||
| chr3:99798618 | ATG | A | 7 | a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(4): Show |
38 | HG00544.hp2 HG00597.hp1 HG00639.hp1 others(35): Show |
3_prime_UTR_variant | MODIFIER | c.*2501_*2502delTG | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 2501 | INFO_REALIGN_3_PRIME | chr3 | 99798618 | |||||
| chr3:99798618 | ATGTG | A | 13 | a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(10): Show |
126 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(123): Show |
3_prime_UTR_variant | MODIFIER | c.*2499_*2502delTGTG | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 2499 | INFO_REALIGN_3_PRIME | chr3 | 99798618 | |||||
| chr3:99798622 | G | A | 1 | a0001c0001t0001 | 1 | HG02083.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2486G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 2486 | chr3 | 99798622 | ||||||
| chr3:99798633 | T | C | 1 | a0001c0001t0009 | 3 | HG02109.hp2 HG02723.hp2 HG03516.hp1 |
3_prime_UTR_variant | MODIFIER | c.*2497T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 2497 | chr3 | 99798633 | ||||||
| chr3:99798637 | T | C | 2 | a0001c0001t0011 a0001c0001t0013 |
5 | HG02809.hp1 HG02886.hp1 HG03209.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*2501T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 2501 | chr3 | 99798637 | ||||||
| chr3:99798640 | G | A | 1 | a0001c0001t0011 | 3 | HG02809.hp1 HG03209.hp1 HG03471.hp1 |
3_prime_UTR_variant | MODIFIER | c.*2504G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 2504 | chr3 | 99798640 | ||||||
| chr3:99798668 | G | A | 1 | a0001c0001t0023 | 1 | HG01978.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2532G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 2532 | chr3 | 99798668 | ||||||
| chr3:99798706 | A | G | 1 | a0001c0003t0022 | 1 | HG02257.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2570A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 2570 | chr3 | 99798706 | ||||||
| chr3:99798845 | T | A | 1 | a0001c0001t0016 | 1 | HG02027.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2709T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 2709 | chr3 | 99798845 | ||||||
| chr3:99799094 | G | A | 2 | a0001c0002t0008 a0001c0002t0024 |
5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*2958G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 2958 | chr3 | 99799094 | ||||||
| chr3:99799112 | T | C | 1 | a0001c0001t0017 | 1 | NA20129.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2976T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 2976 | chr3 | 99799112 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr3:99638920 | G | A | 2 | a0001c0001t0001g0006 a0001c0001t0011g0005 |
2 | HG03471.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.-129+256G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99638920 | |||||||
| chr3:99638945 | C | A | 31 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 others(28): Show |
31 | HG00597.hp2 HG00735.hp1 HG01192.hp1 others(28): Show |
intron_variant | MODIFIER | c.-129+281C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99638945 | |||||||
| chr3:99639005 | A | G | 4 | a0001c0001t0003g0258 a0001c0001t0006g0256 a0001c0001t0007g0255 others(1): Show |
4 | HG02723.hp2 HG02976.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.-129+341A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99639005 | |||||||
| chr3:99639115 | C | T | 1 | a0001c0004t0004g0254 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-129+451C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99639115 | |||||||
| chr3:99639364 | T | A | 1 | a0001c0001t0001g0038 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.-129+700T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99639364 | |||||||
| chr3:99639449 | G | A | 4 | a0001c0002t0008g0039 a0001c0002t0008g0040 a0001c0002t0008g0041 others(1): Show |
4 | HG02109.hp1 HG02630.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.-129+785G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99639449 | |||||||
| chr3:99639523 | C | A | 1 | a0001c0001t0001g0043 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.-129+859C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99639523 | |||||||
| chr3:99639555 | C | T | 114 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0043 others(111): Show |
115 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(112): Show |
intron_variant | MODIFIER | c.-129+891C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99639555 | |||||||
| chr3:99639675 | G | A | 3 | a0001c0001t0001g0153 a0001c0001t0002g0154 a0001c0001t0003g0152 |
3 | HG00741.hp2 HG01192.hp2 HG02735.hp1 |
intron_variant | MODIFIER | c.-129+1011G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99639675 | |||||||
| chr3:99639695 | C | T | 111 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0043 others(108): Show |
112 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(109): Show |
intron_variant | MODIFIER | c.-129+1031C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99639695 | |||||||
| chr3:99639805 | C | T | 3 | a0001c0001t0004g0157 a0001c0001t0006g0156 a0001c0001t0007g0155 |
3 | HG02280.hp1 HG02970.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.-129+1141C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99639805 | |||||||
| chr3:99639868 | G | T | 1 | a0001c0001t0001g0043 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.-129+1204G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99639868 | |||||||
| chr3:99639869 | G | T | 1 | a0001c0001t0001g0043 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.-129+1205G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99639869 | |||||||
| chr3:99639953 | G | A | 1 | a0001c0001t0004g0158 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.-129+1289G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99639953 | |||||||
| chr3:99639977 | T | C | 4 | a0001c0002t0008g0039 a0001c0002t0008g0040 a0001c0002t0008g0041 others(1): Show |
4 | HG02109.hp1 HG02630.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.-129+1313T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99639977 | |||||||
| chr3:99640080 | G | C | 45 | a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0174 others(42): Show |
45 | HG00323.hp1 HG00323.hp2 HG00438.hp2 others(42): Show |
intron_variant | MODIFIER | c.-129+1416G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99640080 | |||||||
| chr3:99640132 | C | T | 247 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(244): Show |
251 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(248): Show |
intron_variant | MODIFIER | c.-129+1468C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99640132 | |||||||
| chr3:99640524 | T | C | 46 | a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0174 others(43): Show |
46 | HG00323.hp1 HG00323.hp2 HG00438.hp2 others(43): Show |
intron_variant | MODIFIER | c.-129+1860T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99640524 | |||||||
| chr3:99640557 | G | A | 2 | a0001c0001t0001g0206 a0001c0001t0011g0205 |
2 | HG03209.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.-129+1893G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99640557 | |||||||
| chr3:99640607 | G | A | 2 | a0001c0001t0001g0054 a0001c0001t0001g0055 |
2 | NA18971.hp1 NA19066.hp1 |
intron_variant | MODIFIER | c.-129+1943G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99640607 | |||||||
| chr3:99640706 | G | A | 1 | a0001c0001t0006g0207 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.-129+2042G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99640706 | |||||||
| chr3:99640783 | G | A | 1 | a0001c0001t0004g0208 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-129+2119G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99640783 | |||||||
| chr3:99640999 | G | A | 1 | a0001c0001t0001g0043 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.-129+2335G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99640999 | |||||||
| chr3:99641045 | A | G | 46 | a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0174 others(43): Show |
46 | HG00323.hp1 HG00323.hp2 HG00438.hp2 others(43): Show |
intron_variant | MODIFIER | c.-129+2381A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99641045 | |||||||
| chr3:99641198 | G | C | 4 | a0001c0002t0008g0039 a0001c0002t0008g0040 a0001c0002t0008g0041 others(1): Show |
4 | HG02109.hp1 HG02630.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.-129+2534G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99641198 | |||||||
| chr3:99641389 | C | G | 24 | a0001c0001t0001g0004 a0001c0001t0001g0234 a0001c0001t0001g0235 others(21): Show |
25 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(22): Show |
intron_variant | MODIFIER | c.-129+2725C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99641389 | |||||||
| chr3:99641696 | AC | A | 3 | a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0011g0205 |
3 | HG03209.hp1 HG03225.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.-129+3033delC | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99641696 | |||||||
| chr3:99641778 | C | A | 3 | a0001c0001t0004g0157 a0001c0001t0006g0156 a0001c0001t0007g0155 |
3 | HG02280.hp1 HG02970.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.-129+3114C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99641778 | |||||||
| chr3:99641901 | A | G | 23 | a0001c0001t0001g0043 a0001c0001t0001g0153 a0001c0001t0001g0215 others(20): Show |
23 | HG00741.hp2 HG01192.hp2 HG01943.hp1 others(20): Show |
intron_variant | MODIFIER | c.-129+3237A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99641901 | |||||||
| chr3:99642113 | C | G | 114 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0043 others(111): Show |
115 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(112): Show |
intron_variant | MODIFIER | c.-129+3449C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99642113 | |||||||
| chr3:99642328 | G | A | 1 | a0001c0001t0002g0007 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.-129+3664G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99642328 | |||||||
| chr3:99642364 | C | T | 1 | a0001c0001t0004g0253 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-129+3700C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99642364 | |||||||
| chr3:99642388 | G | A | 8 | a0001c0001t0001g0006 a0001c0001t0001g0206 a0001c0001t0001g0209 others(5): Show |
8 | HG00639.hp1 HG02818.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.-129+3724G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99642388 | |||||||
| chr3:99642389 | C | T | 8 | a0001c0001t0001g0006 a0001c0001t0001g0206 a0001c0001t0001g0209 others(5): Show |
8 | HG00639.hp1 HG02818.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.-129+3725C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99642389 | |||||||
| chr3:99642653 | G | A | 1 | a0001c0001t0030g0231 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.-129+3989G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99642653 | |||||||
| chr3:99643225 | G | A | 46 | a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0174 others(43): Show |
46 | HG00323.hp1 HG00323.hp2 HG00438.hp2 others(43): Show |
intron_variant | MODIFIER | c.-129+4561G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99643225 | |||||||
| chr3:99643245 | A | G | 1 | a0001c0001t0006g0151 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.-129+4581A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99643245 | |||||||
| chr3:99643247 | A | T | 3 | a0001c0001t0006g0207 a0001c0001t0006g0210 a0001c0001t0006g0211 |
3 | HG00639.hp1 HG02818.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.-129+4583A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99643247 | |||||||
| chr3:99643488 | T | C | 1 | a0001c0001t0002g0232 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.-129+4824T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99643488 | |||||||
| chr3:99643614 | A | T | 1 | a0001c0001t0004g0208 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-129+4950A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99643614 | |||||||
| chr3:99643726 | C | T | 1 | a0001c0001t0030g0231 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.-129+5062C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99643726 | |||||||
| chr3:99644092 | A | G | 1 | a0001c0001t0004g0208 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-129+5428A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99644092 | |||||||
| chr3:99644149 | A | G | 2 | a0001c0001t0003g0258 a0001c0001t0009g0257 |
2 | HG02723.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.-129+5485A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99644149 | |||||||
| chr3:99644198 | T | C | 2 | a0001c0001t0003g0212 a0001c0003t0029g0213 |
2 | HG02615.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.-129+5534T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99644198 | |||||||
| chr3:99644385 | C | A | 21 | a0001c0001t0001g0153 a0001c0001t0001g0215 a0001c0001t0001g0216 others(18): Show |
21 | HG00741.hp2 HG01192.hp2 HG01943.hp1 others(18): Show |
intron_variant | MODIFIER | c.-129+5721C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99644385 | |||||||
| chr3:99644704 | A | G | 1 | a0001c0001t0001g0006 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-129+6040A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99644704 | |||||||
| chr3:99644765 | G | C | 8 | a0001c0001t0003g0258 a0001c0001t0006g0256 a0001c0001t0007g0255 others(5): Show |
8 | HG02109.hp1 HG02630.hp2 HG02723.hp2 others(5): Show |
intron_variant | MODIFIER | c.-129+6101G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99644765 | |||||||
| chr3:99644922 | T | A | 1 | a0001c0001t0010g0159 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.-129+6258T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99644922 | |||||||
| chr3:99645080 | C | T | 3 | a0001c0001t0004g0157 a0001c0001t0006g0156 a0001c0001t0007g0155 |
3 | HG02280.hp1 HG02970.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.-129+6416C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99645080 | |||||||
| chr3:99645134 | T | C | 3 | a0001c0001t0004g0157 a0001c0001t0006g0156 a0001c0001t0007g0155 |
3 | HG02280.hp1 HG02970.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.-129+6470T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99645134 | |||||||
| chr3:99645141 | T | G | 45 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 others(42): Show |
46 | HG00597.hp2 HG00639.hp2 HG00735.hp1 others(43): Show |
intron_variant | MODIFIER | c.-129+6477T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99645141 | |||||||
| chr3:99645302 | A | G | 1 | a0001c0001t0001g0055 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.-129+6638A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99645302 | |||||||
| chr3:99645303 | T | TAAGATTA others(331): Show |
1 | a0001c0001t0006g0211 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.-129+6652_-129+665 others(342): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99645303 | ||||||
| chr3:99645303 | T | TAAGATTA others(338): Show |
1 | a0001c0001t0006g0207 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.-129+6652_-129+665 others(349): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99645303 | ||||||
| chr3:99645303 | T | TAAGATTA others(349): Show |
1 | a0001c0001t0006g0210 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.-129+6652_-129+665 others(360): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99645303 | ||||||
| chr3:99645324 | C | T | 1 | a0001c0002t0008g0042 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.-129+6660C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99645324 | |||||||
| chr3:99645426 | A | G | 46 | a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0174 others(43): Show |
46 | HG00323.hp1 HG00323.hp2 HG00438.hp2 others(43): Show |
intron_variant | MODIFIER | c.-129+6762A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99645426 | |||||||
| chr3:99645598 | AT | A | 3 | a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0011g0205 |
3 | HG03209.hp1 HG03225.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.-129+6937delT | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99645598 | ||||||
| chr3:99645696 | T | A | 3 | a0001c0001t0001g0234 a0001c0001t0004g0208 a0001c0001t0005g0233 |
3 | HG02723.hp1 HG02895.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.-129+7032T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99645696 | |||||||
| chr3:99645696 | T | TA | 53 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 others(50): Show |
55 | HG00140.hp1 HG00323.hp2 HG00438.hp1 others(52): Show |
intron_variant | MODIFIER | c.-129+7048dupA | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99645696 | ||||||
| chr3:99645696 | TA | T | 8 | a0001c0001t0001g0035 a0001c0001t0001g0068 a0001c0001t0001g0069 others(5): Show |
8 | HG01169.hp1 HG02602.hp1 HG02738.hp2 others(5): Show |
intron_variant | MODIFIER | c.-129+7048delA | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99645696 | ||||||
| chr3:99645697 | A | T | 2 | a0001c0001t0001g0036 a0001c0001t0001g0230 |
2 | HG03471.hp2 NA19001.hp2 |
intron_variant | MODIFIER | c.-129+7033A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99645697 | |||||||
| chr3:99645775 | T | C | 3 | a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0011g0205 |
3 | HG03209.hp1 HG03225.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.-129+7111T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99645775 | |||||||
| chr3:99645782 | T | C | 111 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0043 others(108): Show |
112 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(109): Show |
intron_variant | MODIFIER | c.-129+7118T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99645782 | |||||||
| chr3:99646084 | G | T | 28 | a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0016 others(25): Show |
28 | HG00597.hp2 HG00735.hp1 HG01192.hp1 others(25): Show |
intron_variant | MODIFIER | c.-129+7420G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99646084 | |||||||
| chr3:99646331 | T | C | 25 | a0001c0001t0001g0043 a0001c0001t0001g0153 a0001c0001t0001g0215 others(22): Show |
25 | HG00741.hp2 HG01192.hp2 HG01943.hp1 others(22): Show |
intron_variant | MODIFIER | c.-129+7667T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99646331 | |||||||
| chr3:99646434 | T | A | 6 | a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0002g0160 others(3): Show |
6 | NA18943.hp1 NA18953.hp1 NA18959.hp2 others(3): Show |
intron_variant | MODIFIER | c.-129+7770T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99646434 | |||||||
| chr3:99646436 | G | A | 114 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0043 others(111): Show |
115 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(112): Show |
intron_variant | MODIFIER | c.-129+7772G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99646436 | |||||||
| chr3:99646499 | A | G | 2 | a0001c0001t0001g0234 a0001c0001t0005g0233 |
2 | HG02723.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.-129+7835A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99646499 | |||||||
| chr3:99646746 | C | A | 13 | a0001c0001t0001g0006 a0001c0001t0003g0258 a0001c0001t0006g0207 others(10): Show |
13 | HG00639.hp1 HG02109.hp1 HG02630.hp2 others(10): Show |
intron_variant | MODIFIER | c.-129+8082C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99646746 | |||||||
| chr3:99646788 | T | C | 4 | a0001c0001t0001g0234 a0001c0001t0004g0208 a0001c0001t0005g0233 others(1): Show |
4 | HG01891.hp2 HG02723.hp1 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.-129+8124T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99646788 | |||||||
| chr3:99646824 | A | G | 1 | a0001c0001t0002g0010 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.-129+8160A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99646824 | |||||||
| chr3:99646833 | C | T | 1 | a0001c0001t0002g0154 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.-129+8169C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99646833 | |||||||
| chr3:99646873 | C | T | 25 | a0001c0001t0001g0043 a0001c0001t0001g0153 a0001c0001t0001g0215 others(22): Show |
25 | HG00741.hp2 HG01192.hp2 HG01943.hp1 others(22): Show |
intron_variant | MODIFIER | c.-129+8209C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99646873 | |||||||
| chr3:99646895 | C | G | 1 | a0001c0001t0001g0053 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-129+8231C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99646895 | |||||||
| chr3:99647021 | G | A | 114 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0043 others(111): Show |
115 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(112): Show |
intron_variant | MODIFIER | c.-129+8357G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99647021 | |||||||
| chr3:99647234 | G | A | 1 | a0001c0001t0005g0080 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.-129+8570G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99647234 | |||||||
| chr3:99647348 | C | A | 247 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(244): Show |
251 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(248): Show |
intron_variant | MODIFIER | c.-129+8684C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99647348 | |||||||
| chr3:99647389 | G | T | 2 | a0001c0001t0001g0006 a0001c0001t0011g0005 |
2 | HG03471.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.-129+8725G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99647389 | |||||||
| chr3:99647475 | G | GTC | 34 | a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0174 others(31): Show |
34 | HG00323.hp2 HG00438.hp2 HG01069.hp1 others(31): Show |
intron_variant | MODIFIER | c.-129+8834_-129+883 others(6): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99647475 | ||||||
| chr3:99647605 | C | T | 2 | a0001c0001t0004g0157 a0001c0001t0006g0156 |
2 | HG02280.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.-129+8941C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99647605 | |||||||
| chr3:99647615 | T | C | 25 | a0001c0001t0001g0004 a0001c0001t0001g0234 a0001c0001t0001g0235 others(22): Show |
26 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(23): Show |
intron_variant | MODIFIER | c.-129+8951T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99647615 | |||||||
| chr3:99647777 | G | A | 2 | a0001c0001t0004g0157 a0001c0001t0006g0156 |
2 | HG02280.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.-129+9113G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99647777 | |||||||
| chr3:99647987 | C | A | 113 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0043 others(110): Show |
114 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(111): Show |
intron_variant | MODIFIER | c.-129+9323C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99647987 | |||||||
| chr3:99648121 | C | T | 1 | a0001c0004t0004g0254 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-129+9457C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99648121 | |||||||
| chr3:99648250 | G | A | 2 | a0001c0001t0007g0166 a0001c0001t0010g0159 |
2 | HG01074.hp2 HG02486.hp2 |
intron_variant | MODIFIER | c.-129+9586G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99648250 | |||||||
| chr3:99648319 | G | A | 114 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0043 others(111): Show |
115 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(112): Show |
intron_variant | MODIFIER | c.-129+9655G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99648319 | |||||||
| chr3:99648670 | A | G | 1 | a0001c0001t0001g0147 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.-129+10006A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99648670 | |||||||
| chr3:99648683 | A | G | 2 | a0001c0001t0001g0145 a0001c0001t0001g0146 |
2 | HG02080.hp1 NA18986.hp1 |
intron_variant | MODIFIER | c.-129+10019A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99648683 | |||||||
| chr3:99648866 | G | T | 1 | a0001c0001t0001g0043 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.-129+10202G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99648866 | |||||||
| chr3:99648868 | G | A | 24 | a0001c0001t0001g0004 a0001c0001t0001g0234 a0001c0001t0001g0235 others(21): Show |
25 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(22): Show |
intron_variant | MODIFIER | c.-129+10204G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99648868 | |||||||
| chr3:99648871 | T | A | 1 | a0001c0001t0001g0043 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.-129+10207T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99648871 | |||||||
| chr3:99649025 | T | C | 114 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0043 others(111): Show |
115 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(112): Show |
intron_variant | MODIFIER | c.-129+10361T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99649025 | |||||||
| chr3:99649068 | T | C | 1 | a0001c0007t0001g0082 | 1 | NA18943.hp2 | intron_variant | MODIFIER | c.-129+10404T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99649068 | |||||||
| chr3:99649183 | C | T | 26 | a0001c0001t0001g0043 a0001c0001t0001g0153 a0001c0001t0001g0206 others(23): Show |
26 | HG00741.hp2 HG01192.hp2 HG01943.hp1 others(23): Show |
intron_variant | MODIFIER | c.-129+10519C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99649183 | |||||||
| chr3:99649279 | C | T | 110 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0043 others(107): Show |
111 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(108): Show |
intron_variant | MODIFIER | c.-129+10615C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99649279 | |||||||
| chr3:99649396 | A | G | 110 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0043 others(107): Show |
111 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(108): Show |
intron_variant | MODIFIER | c.-129+10732A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99649396 | |||||||
| chr3:99649400 | A | G | 110 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0043 others(107): Show |
111 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(108): Show |
intron_variant | MODIFIER | c.-129+10736A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99649400 | |||||||
| chr3:99649432 | A | T | 2 | a0001c0001t0002g0202 a0001c0001t0015g0179 |
2 | HG01934.hp2 HG02148.hp2 |
intron_variant | MODIFIER | c.-129+10768A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99649432 | |||||||
| chr3:99649656 | A | G | 1 | a0001c0001t0002g0249 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.-129+10992A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99649656 | |||||||
| chr3:99649787 | T | TCA | 4 | a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0003g0084 others(1): Show |
4 | HG01175.hp1 HG01952.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.-129+11140_-129+11 others(8): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99649787 | ||||||
| chr3:99649792 | C | T | 3 | a0001c0001t0002g0227 a0001c0001t0006g0228 a0001c0001t0006g0229 |
3 | HG01943.hp1 HG01978.hp1 HG02293.hp2 |
intron_variant | MODIFIER | c.-129+11128C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99649792 | |||||||
| chr3:99649805 | A | T | 1 | a0001c0001t0001g0146 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.-129+11141A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99649805 | |||||||
| chr3:99649970 | C | A | 1 | a0001c0001t0004g0214 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.-129+11306C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99649970 | |||||||
| chr3:99650007 | GAACA | G | 4 | a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0010g0141 others(1): Show |
4 | HG01943.hp2 HG03927.hp1 HG04115.hp2 others(1): Show |
intron_variant | MODIFIER | c.-129+11348_-129+11 others(10): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99650007 | ||||||
| chr3:99650159 | T | C | 4 | a0001c0002t0008g0039 a0001c0002t0008g0040 a0001c0002t0008g0041 others(1): Show |
4 | HG02109.hp1 HG02630.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.-129+11495T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99650159 | |||||||
| chr3:99650305 | G | A | 247 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(244): Show |
251 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(248): Show |
intron_variant | MODIFIER | c.-129+11641G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99650305 | |||||||
| chr3:99650505 | G | T | 4 | a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 others(1): Show |
4 | HG00735.hp1 HG02559.hp1 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.-129+11841G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99650505 | |||||||
| chr3:99650547 | G | T | 1 | a0001c0001t0004g0208 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-129+11883G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99650547 | |||||||
| chr3:99650772 | T | C | 1 | a0001c0001t0001g0180 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.-129+12108T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99650772 | |||||||
| chr3:99650977 | C | T | 25 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0178 others(22): Show |
26 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(23): Show |
intron_variant | MODIFIER | c.-129+12313C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99650977 | |||||||
| chr3:99651200 | ATCTCATT others(4): Show |
A | 2 | a0001c0001t0011g0005 a0001c0001t0011g0205 |
2 | HG03209.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.-129+12538_-129+12 others(17): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99651200 | ||||||
| chr3:99651235 | T | C | 1 | a0001c0001t0006g0151 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.-129+12571T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99651235 | |||||||
| chr3:99651255 | T | C | 26 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0056 others(23): Show |
27 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(24): Show |
intron_variant | MODIFIER | c.-129+12591T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99651255 | |||||||
| chr3:99651481 | C | T | 1 | a0001c0001t0005g0140 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.-129+12817C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99651481 | |||||||
| chr3:99651496 | G | A | 1 | a0001c0001t0001g0044 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.-129+12832G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99651496 | |||||||
| chr3:99651502 | A | G | 26 | a0001c0001t0001g0085 a0001c0001t0001g0153 a0001c0001t0001g0215 others(23): Show |
26 | HG00741.hp2 HG01175.hp1 HG01192.hp2 others(23): Show |
intron_variant | MODIFIER | c.-129+12838A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99651502 | |||||||
| chr3:99651503 | G | A | 1 | a0001c0001t0001g0215 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.-129+12839G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99651503 | |||||||
| chr3:99651750 | G | A | 1 | a0001c0001t0002g0167 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.-129+13086G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99651750 | |||||||
| chr3:99651760 | C | T | 26 | a0001c0001t0001g0085 a0001c0001t0001g0153 a0001c0001t0001g0215 others(23): Show |
26 | HG00741.hp2 HG01175.hp1 HG01192.hp2 others(23): Show |
intron_variant | MODIFIER | c.-129+13096C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99651760 | |||||||
| chr3:99651796 | G | A | 4 | a0001c0001t0003g0258 a0001c0001t0006g0256 a0001c0001t0007g0255 others(1): Show |
4 | HG02723.hp2 HG02976.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.-129+13132G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99651796 | |||||||
| chr3:99651853 | C | G | 1 | a0001c0001t0001g0030 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.-129+13189C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99651853 | |||||||
| chr3:99651916 | C | T | 1 | a0001c0001t0005g0080 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.-129+13252C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99651916 | |||||||
| chr3:99651933 | G | A | 2 | a0001c0001t0004g0070 a0001c0001t0004g0071 |
2 | HG01109.hp1 HG03704.hp2 |
intron_variant | MODIFIER | c.-129+13269G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99651933 | |||||||
| chr3:99651938 | A | G | 2 | a0001c0001t0003g0212 a0001c0003t0029g0213 |
2 | HG02615.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.-129+13274A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99651938 | |||||||
| chr3:99652132 | C | T | 1 | a0001c0001t0003g0200 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.-129+13468C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99652132 | |||||||
| chr3:99652353 | C | T | 2 | a0001c0001t0003g0149 a0001c0001t0003g0150 |
2 | HG02896.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-129+13689C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99652353 | |||||||
| chr3:99652473 | G | A | 1 | a0001c0001t0005g0140 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.-129+13809G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99652473 | |||||||
| chr3:99652544 | G | A | 2 | a0001c0001t0003g0149 a0001c0001t0003g0150 |
2 | HG02896.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-129+13880G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99652544 | |||||||
| chr3:99652615 | A | G | 1 | a0001c0001t0004g0201 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.-129+13951A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99652615 | |||||||
| chr3:99652688 | C | T | 125 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 others(122): Show |
128 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(125): Show |
intron_variant | MODIFIER | c.-129+14024C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99652688 | |||||||
| chr3:99652864 | G | A | 125 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 others(122): Show |
128 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(125): Show |
intron_variant | MODIFIER | c.-129+14200G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99652864 | |||||||
| chr3:99652876 | C | T | 1 | a0001c0001t0001g0029 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.-129+14212C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99652876 | |||||||
| chr3:99652937 | G | A | 52 | a0001c0001t0001g0147 a0001c0001t0001g0162 a0001c0001t0001g0165 others(49): Show |
52 | HG00323.hp1 HG00323.hp2 HG00438.hp2 others(49): Show |
intron_variant | MODIFIER | c.-129+14273G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99652937 | |||||||
| chr3:99652951 | A | G | 1 | a0001c0001t0004g0253 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-129+14287A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99652951 | |||||||
| chr3:99653015 | A | G | 1 | a0001c0001t0001g0137 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.-129+14351A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99653015 | |||||||
| chr3:99653046 | C | T | 1 | a0001c0001t0001g0006 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-129+14382C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99653046 | |||||||
| chr3:99653050 | A | G | 2 | a0001c0001t0003g0149 a0001c0001t0003g0150 |
2 | HG02896.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-129+14386A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99653050 | |||||||
| chr3:99653237 | C | T | 1 | a0001c0001t0001g0225 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.-129+14573C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99653237 | |||||||
| chr3:99653249 | A | G | 2 | a0001c0001t0006g0138 a0001c0001t0028g0139 |
2 | HG02257.hp2 HG02559.hp2 |
intron_variant | MODIFIER | c.-129+14585A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99653249 | |||||||
| chr3:99653539 | C | G | 1 | a0001c0001t0002g0136 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.-129+14875C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99653539 | |||||||
| chr3:99653554 | T | C | 1 | a0001c0001t0002g0057 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.-129+14890T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99653554 | |||||||
| chr3:99653648 | T | A | 2 | a0001c0001t0001g0180 a0001c0001t0001g0181 |
2 | HG03654.hp2 HG03704.hp1 |
intron_variant | MODIFIER | c.-129+14984T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99653648 | |||||||
| chr3:99653880 | T | C | 5 | a0001c0001t0001g0006 a0001c0001t0001g0234 a0001c0001t0004g0208 others(2): Show |
5 | HG01891.hp2 HG02723.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.-129+15216T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99653880 | |||||||
| chr3:99653952 | G | A | 33 | a0001c0001t0001g0043 a0001c0001t0001g0085 a0001c0001t0001g0153 others(30): Show |
33 | HG00741.hp2 HG01175.hp1 HG01192.hp2 others(30): Show |
intron_variant | MODIFIER | c.-129+15288G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99653952 | |||||||
| chr3:99654012 | C | T | 1 | a0001c0004t0004g0254 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-129+15348C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99654012 | |||||||
| chr3:99654014 | G | A | 2 | a0001c0001t0003g0212 a0001c0003t0029g0213 |
2 | HG02615.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.-129+15350G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99654014 | |||||||
| chr3:99654057 | T | A | 1 | a0002c0006t0001g0087 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.-129+15393T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99654057 | |||||||
| chr3:99654177 | C | T | 24 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0234 others(21): Show |
25 | HG00140.hp1 HG00544.hp1 HG00558.hp2 others(22): Show |
intron_variant | MODIFIER | c.-129+15513C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99654177 | |||||||
| chr3:99654255 | G | A | 1 | a0001c0001t0003g0088 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.-129+15591G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99654255 | |||||||
| chr3:99654548 | G | A | 3 | a0001c0001t0001g0043 a0001c0001t0004g0157 a0001c0001t0006g0156 |
3 | HG02280.hp1 HG02615.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.-129+15884G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99654548 | |||||||
| chr3:99654712 | C | T | 1 | a0001c0001t0019g0037 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.-129+16048C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99654712 | |||||||
| chr3:99654864 | G | A | 2 | a0001c0001t0010g0141 a0001c0001t0010g0142 |
2 | HG03927.hp1 HG04115.hp2 |
intron_variant | MODIFIER | c.-129+16200G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99654864 | |||||||
| chr3:99654918 | T | C | 1 | a0001c0001t0001g0153 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.-129+16254T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99654918 | |||||||
| chr3:99655119 | C | G | 1 | a0002c0006t0001g0087 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.-129+16455C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99655119 | |||||||
| chr3:99655630 | C | G | 1 | a0001c0001t0002g0148 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.-129+16966C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99655630 | |||||||
| chr3:99655648 | A | G | 1 | a0001c0001t0004g0157 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.-129+16984A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99655648 | |||||||
| chr3:99655810 | G | A | 5 | a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 others(2): Show |
5 | HG00323.hp2 HG01361.hp2 HG02293.hp1 others(2): Show |
intron_variant | MODIFIER | c.-129+17146G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99655810 | |||||||
| chr3:99656167 | T | C | 1 | a0001c0001t0007g0166 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.-129+17503T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99656167 | |||||||
| chr3:99656225 | T | G | 113 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 others(110): Show |
117 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(114): Show |
intron_variant | MODIFIER | c.-129+17561T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99656225 | |||||||
| chr3:99656250 | G | T | 1 | a0001c0001t0001g0252 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.-129+17586G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99656250 | |||||||
| chr3:99656307 | A | G | 58 | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0038 others(55): Show |
59 | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(56): Show |
intron_variant | MODIFIER | c.-129+17643A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99656307 | |||||||
| chr3:99656336 | G | A | 1 | a0001c0001t0005g0080 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.-129+17672G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99656336 | |||||||
| chr3:99656497 | A | G | 1 | a0001c0001t0002g0232 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.-129+17833A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99656497 | |||||||
| chr3:99656499 | A | G | 3 | a0001c0001t0001g0006 a0001c0001t0006g0156 a0001c0001t0019g0037 |
3 | HG02280.hp1 HG03486.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.-129+17835A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99656499 | |||||||
| chr3:99656733 | C | T | 1 | a0001c0001t0001g0002 | 2 | HG01256.hp2 HG01258.hp2 |
intron_variant | MODIFIER | c.-129+18069C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99656733 | |||||||
| chr3:99656905 | A | G | 1 | a0001c0001t0003g0084 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.-129+18241A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99656905 | |||||||
| chr3:99657116 | T | G | 1 | a0001c0001t0004g0208 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-129+18452T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99657116 | |||||||
| chr3:99657165 | T | G | 26 | a0001c0001t0001g0004 a0001c0001t0001g0137 a0001c0001t0001g0206 others(23): Show |
27 | HG00544.hp1 HG00558.hp2 HG01975.hp2 others(24): Show |
intron_variant | MODIFIER | c.-129+18501T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99657165 | |||||||
| chr3:99657326 | T | C | 1 | a0001c0001t0003g0203 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.-129+18662T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99657326 | |||||||
| chr3:99657618 | A | G | 1 | a0001c0001t0005g0028 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.-129+18954A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99657618 | |||||||
| chr3:99657905 | G | A | 38 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0038 others(35): Show |
40 | HG00140.hp2 HG00280.hp2 HG00558.hp1 others(37): Show |
intron_variant | MODIFIER | c.-129+19241G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99657905 | |||||||
| chr3:99658058 | C | T | 1 | a0001c0001t0004g0157 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.-129+19394C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99658058 | |||||||
| chr3:99658115 | AAAAAAAC others(7): Show |
A | 6 | a0001c0001t0011g0005 a0001c0001t0011g0205 a0001c0002t0008g0039 others(3): Show |
6 | HG02109.hp1 HG02630.hp2 HG03209.hp1 others(3): Show |
intron_variant | MODIFIER | c.-129+19458_-129+19 others(20): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99658115 | ||||||
| chr3:99658121 | AC | A | 23 | a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0055 others(20): Show |
23 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(20): Show |
intron_variant | MODIFIER | c.-129+19458delC | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99658121 | |||||||
| chr3:99658122 | C | A | 102 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 others(99): Show |
106 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(103): Show |
intron_variant | MODIFIER | c.-129+19458C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99658122 | |||||||
| chr3:99658123 | A | C | 24 | a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0003g0084 others(21): Show |
24 | HG00323.hp1 HG00438.hp2 HG00639.hp1 others(21): Show |
intron_variant | MODIFIER | c.-129+19459A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99658123 | |||||||
| chr3:99658124 | A | C | 1 | a0001c0001t0001g0004 | 2 | NA19063.hp1 NA19075.hp1 |
intron_variant | MODIFIER | c.-129+19460A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99658124 | |||||||
| chr3:99658128 | A | C | 1 | a0001c0001t0006g0138 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.-129+19464A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99658128 | |||||||
| chr3:99658129 | C | A | 1 | a0001c0001t0006g0138 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.-129+19465C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99658129 | |||||||
| chr3:99658133 | A | C | 2 | a0001c0001t0001g0234 a0001c0001t0005g0233 |
2 | HG02723.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.-129+19469A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99658133 | |||||||
| chr3:99658352 | G | A | 23 | a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0055 others(20): Show |
23 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(20): Show |
intron_variant | MODIFIER | c.-129+19688G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99658352 | |||||||
| chr3:99658352 | G | C | 2 | a0001c0001t0003g0212 a0001c0003t0029g0213 |
2 | HG02615.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.-129+19688G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99658352 | |||||||
| chr3:99658376 | C | T | 23 | a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0055 others(20): Show |
23 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(20): Show |
intron_variant | MODIFIER | c.-129+19712C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99658376 | |||||||
| chr3:99658425 | C | T | 3 | a0001c0001t0006g0207 a0001c0001t0006g0210 a0001c0001t0006g0211 |
3 | HG00639.hp1 HG02818.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.-129+19761C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99658425 | |||||||
| chr3:99658679 | G | A | 1 | a0001c0004t0004g0254 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-129+20015G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99658679 | |||||||
| chr3:99659155 | T | C | 23 | a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0055 others(20): Show |
23 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(20): Show |
intron_variant | MODIFIER | c.-129+20491T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99659155 | |||||||
| chr3:99659188 | C | T | 1 | a0001c0001t0019g0037 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.-129+20524C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99659188 | |||||||
| chr3:99659233 | G | A | 23 | a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0055 others(20): Show |
23 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(20): Show |
intron_variant | MODIFIER | c.-129+20569G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99659233 | |||||||
| chr3:99659278 | G | A | 3 | a0001c0001t0002g0154 a0001c0001t0003g0172 a0001c0001t0003g0173 |
3 | HG00741.hp2 HG01257.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.-129+20614G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99659278 | |||||||
| chr3:99659330 | G | A | 1 | a0001c0001t0018g0182 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.-129+20666G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99659330 | |||||||
| chr3:99659353 | T | G | 23 | a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0055 others(20): Show |
23 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(20): Show |
intron_variant | MODIFIER | c.-129+20689T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99659353 | |||||||
| chr3:99659749 | G | T | 1 | a0001c0001t0001g0055 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.-129+21085G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99659749 | |||||||
| chr3:99659757 | C | T | 6 | a0001c0001t0011g0005 a0001c0001t0011g0205 a0001c0002t0008g0039 others(3): Show |
6 | HG02109.hp1 HG02630.hp2 HG03209.hp1 others(3): Show |
intron_variant | MODIFIER | c.-129+21093C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99659757 | |||||||
| chr3:99659788 | T | C | 3 | a0001c0001t0003g0084 a0001c0001t0006g0138 a0001c0001t0006g0151 |
3 | HG02559.hp2 HG02895.hp2 HG02896.hp2 |
intron_variant | MODIFIER | c.-129+21124T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99659788 | |||||||
| chr3:99659892 | C | T | 1 | a0001c0001t0005g0028 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.-129+21228C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99659892 | |||||||
| chr3:99660078 | T | C | 2 | a0001c0001t0002g0125 a0001c0001t0004g0157 |
2 | HG03209.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.-129+21414T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99660078 | |||||||
| chr3:99660131 | G | A | 1 | a0001c0001t0004g0157 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.-129+21467G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99660131 | |||||||
| chr3:99660180 | G | A | 3 | a0001c0001t0002g0125 a0001c0001t0003g0152 a0001c0001t0004g0157 |
3 | HG02735.hp1 HG03209.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.-129+21516G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99660180 | |||||||
| chr3:99660208 | A | G | 7 | a0001c0001t0001g0209 a0001c0001t0001g0216 a0001c0001t0001g0217 others(4): Show |
7 | HG01975.hp2 HG02145.hp1 HG02257.hp1 others(4): Show |
intron_variant | MODIFIER | c.-129+21544A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99660208 | |||||||
| chr3:99660500 | A | C | 5 | a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 others(2): Show |
5 | HG01975.hp2 HG02145.hp1 HG02257.hp1 others(2): Show |
intron_variant | MODIFIER | c.-129+21836A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99660500 | |||||||
| chr3:99660579 | C | T | 6 | a0001c0001t0011g0005 a0001c0001t0011g0205 a0001c0002t0008g0039 others(3): Show |
6 | HG02109.hp1 HG02630.hp2 HG03209.hp1 others(3): Show |
intron_variant | MODIFIER | c.-129+21915C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99660579 | |||||||
| chr3:99660753 | C | T | 1 | a0001c0001t0014g0079 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.-129+22089C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99660753 | |||||||
| chr3:99660821 | G | A | 2 | a0001c0001t0010g0141 a0001c0001t0010g0142 |
2 | HG03927.hp1 HG04115.hp2 |
intron_variant | MODIFIER | c.-129+22157G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99660821 | |||||||
| chr3:99660844 | G | T | 3 | a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0018g0182 |
3 | HG00323.hp1 HG01081.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.-129+22180G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99660844 | |||||||
| chr3:99661086 | G | A | 1 | a0001c0001t0005g0014 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.-129+22422G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99661086 | |||||||
| chr3:99661318 | A | C | 4 | a0001c0002t0008g0039 a0001c0002t0008g0040 a0001c0002t0008g0041 others(1): Show |
4 | HG02109.hp1 HG02630.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.-129+22654A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99661318 | |||||||
| chr3:99661501 | A | G | 1 | a0001c0001t0001g0215 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.-129+22837A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99661501 | |||||||
| chr3:99661545 | C | T | 23 | a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0055 others(20): Show |
23 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(20): Show |
intron_variant | MODIFIER | c.-129+22881C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99661545 | |||||||
| chr3:99661783 | T | G | 25 | a0001c0001t0002g0125 a0001c0001t0003g0032 a0001c0001t0003g0149 others(22): Show |
25 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(22): Show |
intron_variant | MODIFIER | c.-129+23119T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99661783 | |||||||
| chr3:99661813 | C | T | 1 | a0001c0001t0001g0122 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.-129+23149C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99661813 | |||||||
| chr3:99661856 | C | T | 25 | a0001c0001t0002g0125 a0001c0001t0003g0032 a0001c0001t0003g0149 others(22): Show |
25 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(22): Show |
intron_variant | MODIFIER | c.-129+23192C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99661856 | |||||||
| chr3:99662040 | C | T | 1 | a0001c0001t0001g0095 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.-129+23376C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99662040 | |||||||
| chr3:99662105 | A | T | 25 | a0001c0001t0002g0125 a0001c0001t0003g0032 a0001c0001t0003g0149 others(22): Show |
25 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(22): Show |
intron_variant | MODIFIER | c.-129+23441A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99662105 | |||||||
| chr3:99662115 | G | A | 144 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 others(141): Show |
147 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(144): Show |
intron_variant | MODIFIER | c.-129+23451G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99662115 | |||||||
| chr3:99662210 | G | C | 50 | a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0055 others(47): Show |
50 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(47): Show |
intron_variant | MODIFIER | c.-129+23546G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99662210 | |||||||
| chr3:99662238 | C | G | 3 | a0001c0001t0001g0006 a0001c0001t0006g0156 a0001c0001t0019g0037 |
3 | HG02280.hp1 HG03486.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.-129+23574C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99662238 | |||||||
| chr3:99662304 | C | T | 6 | a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 others(3): Show |
6 | HG01975.hp2 HG02145.hp1 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.-129+23640C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99662304 | |||||||
| chr3:99662379 | C | T | 2 | a0001c0001t0004g0253 a0001c0001t0006g0226 |
2 | NA19030.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.-129+23715C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99662379 | |||||||
| chr3:99662381 | C | CA | 133 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(130): Show |
137 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(134): Show |
intron_variant | MODIFIER | c.-129+23733dupA | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99662381 | ||||||
| chr3:99662381 | C | CAAA | 24 | a0001c0001t0002g0125 a0001c0001t0003g0032 a0001c0001t0003g0149 others(21): Show |
24 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.-129+23731_-129+23 others(9): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99662381 | ||||||
| chr3:99662653 | C | T | 1 | a0001c0001t0001g0246 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-129+23989C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99662653 | |||||||
| chr3:99662948 | G | A | 23 | a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0055 others(20): Show |
23 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(20): Show |
intron_variant | MODIFIER | c.-129+24284G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99662948 | |||||||
| chr3:99663077 | T | C | 23 | a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0055 others(20): Show |
23 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(20): Show |
intron_variant | MODIFIER | c.-129+24413T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99663077 | |||||||
| chr3:99663250 | C | T | 13 | a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0061 others(10): Show |
14 | HG00639.hp2 HG00738.hp1 HG01069.hp2 others(11): Show |
intron_variant | MODIFIER | c.-129+24586C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99663250 | |||||||
| chr3:99663353 | G | A | 1 | a0001c0001t0005g0089 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.-129+24689G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99663353 | |||||||
| chr3:99663538 | C | T | 1 | a0001c0001t0009g0052 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.-129+24874C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99663538 | |||||||
| chr3:99663571 | A | G | 5 | a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 others(2): Show |
5 | HG01975.hp2 HG02145.hp1 HG02257.hp1 others(2): Show |
intron_variant | MODIFIER | c.-129+24907A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99663571 | |||||||
| chr3:99663581 | A | G | 1 | a0001c0001t0005g0089 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.-129+24917A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99663581 | |||||||
| chr3:99663692 | A | G | 25 | a0001c0001t0002g0125 a0001c0001t0003g0032 a0001c0001t0003g0149 others(22): Show |
25 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(22): Show |
intron_variant | MODIFIER | c.-129+25028A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99663692 | |||||||
| chr3:99663798 | TA | T | 25 | a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0003g0084 others(22): Show |
25 | HG00323.hp1 HG00438.hp2 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.-129+25137delA | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99663798 | ||||||
| chr3:99664186 | C | G | 43 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0038 others(40): Show |
45 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(42): Show |
intron_variant | MODIFIER | c.-129+25522C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99664186 | |||||||
| chr3:99664402 | A | G | 1 | a0001c0001t0001g0118 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.-129+25738A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99664402 | |||||||
| chr3:99664443 | G | A | 4 | a0001c0001t0003g0084 a0001c0001t0006g0138 a0001c0001t0006g0151 others(1): Show |
4 | HG02559.hp2 HG02895.hp2 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.-129+25779G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99664443 | |||||||
| chr3:99664482 | TA | T | 68 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0038 others(65): Show |
70 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(67): Show |
intron_variant | MODIFIER | c.-129+25828delA | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99664482 | ||||||
| chr3:99664488 | A | T | 1 | a0001c0001t0003g0195 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.-129+25824A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99664488 | |||||||
| chr3:99664493 | T | A | 5 | a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 others(2): Show |
5 | HG01975.hp2 HG02145.hp1 HG02257.hp1 others(2): Show |
intron_variant | MODIFIER | c.-129+25829T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99664493 | |||||||
| chr3:99664503 | A | T | 96 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 others(93): Show |
99 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(96): Show |
intron_variant | MODIFIER | c.-129+25839A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99664503 | |||||||
| chr3:99664567 | C | A | 15 | a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0003g0212 others(12): Show |
15 | HG00323.hp1 HG00438.hp2 HG00738.hp2 others(12): Show |
intron_variant | MODIFIER | c.-129+25903C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99664567 | |||||||
| chr3:99664784 | A | G | 31 | a0001c0001t0001g0031 a0001c0001t0002g0125 a0001c0001t0003g0032 others(28): Show |
31 | HG00544.hp2 HG00597.hp1 HG00735.hp1 others(28): Show |
intron_variant | MODIFIER | c.-129+26120A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99664784 | |||||||
| chr3:99665105 | C | T | 1 | a0001c0001t0006g0046 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.-129+26441C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99665105 | |||||||
| chr3:99665193 | G | C | 2 | a0001c0001t0001g0235 a0001c0001t0001g0236 |
2 | HG02809.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.-129+26529G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99665193 | |||||||
| chr3:99665411 | G | A | 23 | a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0055 others(20): Show |
23 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(20): Show |
intron_variant | MODIFIER | c.-129+26747G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99665411 | |||||||
| chr3:99665649 | C | A | 1 | a0001c0001t0002g0127 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.-129+26985C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99665649 | |||||||
| chr3:99665663 | T | G | 2 | a0001c0001t0004g0253 a0001c0001t0006g0226 |
2 | NA19030.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.-129+26999T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99665663 | |||||||
| chr3:99665673 | C | CT | 17 | a0001c0001t0001g0056 a0001c0001t0001g0067 a0001c0001t0001g0085 others(14): Show |
17 | HG00544.hp1 HG00597.hp2 HG01175.hp1 others(14): Show |
intron_variant | MODIFIER | c.-129+27034dupT | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99665673 | ||||||
| chr3:99665673 | CT | C | 76 | a0001c0001t0001g0008 a0001c0001t0001g0031 a0001c0001t0001g0033 others(73): Show |
76 | HG00280.hp1 HG00323.hp1 HG00438.hp1 others(73): Show |
intron_variant | MODIFIER | c.-129+27034delT | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99665673 | ||||||
| chr3:99665673 | CTT | C | 10 | a0001c0001t0001g0198 a0001c0001t0001g0209 a0001c0001t0003g0032 others(7): Show |
10 | HG01081.hp1 HG02723.hp2 HG02896.hp1 others(7): Show |
intron_variant | MODIFIER | c.-129+27033_-129+27 others(8): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99665673 | ||||||
| chr3:99665751 | G | A | 2 | a0001c0001t0001g0209 a0001c0001t0020g0123 |
2 | HG02486.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.-129+27087G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99665751 | |||||||
| chr3:99665828 | C | T | 25 | a0001c0001t0002g0125 a0001c0001t0003g0032 a0001c0001t0003g0149 others(22): Show |
25 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(22): Show |
intron_variant | MODIFIER | c.-129+27164C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99665828 | |||||||
| chr3:99665848 | ATT | A | 24 | a0001c0001t0002g0125 a0001c0001t0003g0032 a0001c0001t0003g0149 others(21): Show |
24 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.-129+27201_-129+27 others(8): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99665848 | ||||||
| chr3:99665999 | T | C | 1 | a0001c0001t0001g0243 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.-129+27335T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99665999 | |||||||
| chr3:99666102 | T | C | 7 | a0001c0001t0001g0209 a0001c0001t0001g0216 a0001c0001t0001g0217 others(4): Show |
7 | HG01975.hp2 HG02145.hp1 HG02257.hp1 others(4): Show |
intron_variant | MODIFIER | c.-129+27438T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99666102 | |||||||
| chr3:99666181 | C | T | 4 | a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0023g0072 others(1): Show |
4 | HG01978.hp2 HG02148.hp1 NA19001.hp1 others(1): Show |
intron_variant | MODIFIER | c.-129+27517C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99666181 | |||||||
| chr3:99666221 | G | A | 21 | a0001c0001t0001g0004 a0001c0001t0001g0206 a0001c0001t0001g0209 others(18): Show |
22 | HG01975.hp2 HG02027.hp2 HG02083.hp1 others(19): Show |
intron_variant | MODIFIER | c.-129+27557G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99666221 | |||||||
| chr3:99666358 | C | CATT | 25 | a0001c0001t0002g0125 a0001c0001t0003g0032 a0001c0001t0003g0149 others(22): Show |
25 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(22): Show |
intron_variant | MODIFIER | c.-129+27695_-129+27 others(9): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99666358 | ||||||
| chr3:99666634 | G | A | 2 | a0001c0001t0004g0253 a0001c0001t0006g0226 |
2 | NA19030.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.-129+27970G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99666634 | |||||||
| chr3:99666683 | T | C | 1 | a0001c0001t0001g0098 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.-129+28019T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99666683 | |||||||
| chr3:99666725 | C | G | 1 | a0001c0001t0004g0253 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-129+28061C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99666725 | |||||||
| chr3:99666727 | C | T | 2 | a0001c0001t0002g0125 a0001c0001t0004g0157 |
2 | HG03209.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.-129+28063C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99666727 | |||||||
| chr3:99666841 | C | G | 2 | a0001c0001t0006g0138 a0001c0001t0006g0151 |
2 | HG02559.hp2 HG02895.hp2 |
intron_variant | MODIFIER | c.-129+28177C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99666841 | |||||||
| chr3:99666854 | A | T | 9 | a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0003g0088 others(6): Show |
9 | HG00280.hp1 HG02683.hp1 HG02735.hp2 others(6): Show |
intron_variant | MODIFIER | c.-129+28190A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99666854 | |||||||
| chr3:99666910 | A | G | 2 | a0001c0001t0001g0112 a0001c0001t0001g0113 |
2 | HG00558.hp1 NA19054.hp1 |
intron_variant | MODIFIER | c.-129+28246A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99666910 | |||||||
| chr3:99666984 | T | A | 25 | a0001c0001t0002g0125 a0001c0001t0003g0032 a0001c0001t0003g0149 others(22): Show |
25 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(22): Show |
intron_variant | MODIFIER | c.-129+28320T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99666984 | |||||||
| chr3:99666990 | T | A | 1 | a0001c0003t0022g0011 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.-129+28326T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99666990 | |||||||
| chr3:99667229 | T | A | 25 | a0001c0001t0002g0125 a0001c0001t0003g0032 a0001c0001t0003g0149 others(22): Show |
25 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(22): Show |
intron_variant | MODIFIER | c.-129+28565T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99667229 | |||||||
| chr3:99667443 | T | C | 15 | a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0003g0212 others(12): Show |
15 | HG00323.hp1 HG00438.hp2 HG00738.hp2 others(12): Show |
intron_variant | MODIFIER | c.-129+28779T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99667443 | |||||||
| chr3:99667505 | C | T | 1 | a0001c0001t0002g0007 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.-129+28841C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99667505 | |||||||
| chr3:99667520 | G | A | 43 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0038 others(40): Show |
45 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(42): Show |
intron_variant | MODIFIER | c.-129+28856G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99667520 | |||||||
| chr3:99667741 | T | A | 1 | a0001c0001t0005g0140 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.-129+29077T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99667741 | |||||||
| chr3:99667863 | C | T | 3 | a0001c0001t0006g0207 a0001c0001t0006g0210 a0001c0001t0006g0211 |
3 | HG00639.hp1 HG02818.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.-129+29199C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99667863 | |||||||
| chr3:99668161 | A | G | 1 | a0001c0001t0001g0143 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.-129+29497A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99668161 | |||||||
| chr3:99668699 | T | A | 1 | a0001c0002t0024g0197 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-129+30035T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99668699 | |||||||
| chr3:99668753 | T | A | 15 | a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0003g0212 others(12): Show |
15 | HG00323.hp1 HG00438.hp2 HG00738.hp2 others(12): Show |
intron_variant | MODIFIER | c.-129+30089T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99668753 | |||||||
| chr3:99668882 | A | T | 1 | a0001c0001t0001g0006 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-129+30218A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99668882 | |||||||
| chr3:99668960 | A | G | 1 | a0001c0001t0003g0195 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.-129+30296A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99668960 | |||||||
| chr3:99669059 | A | G | 48 | a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0055 others(45): Show |
48 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(45): Show |
intron_variant | MODIFIER | c.-129+30395A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99669059 | |||||||
| chr3:99669123 | T | TTA | 18 | a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0111 others(15): Show |
18 | HG00544.hp1 HG00558.hp2 HG01074.hp2 others(15): Show |
intron_variant | MODIFIER | c.-129+30482_-129+30 others(8): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669123 | ||||||
| chr3:99669123 | T | TTATATA | 5 | a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 others(2): Show |
5 | HG01975.hp2 HG02145.hp1 HG02257.hp1 others(2): Show |
intron_variant | MODIFIER | c.-129+30478_-129+30 others(12): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669123 | ||||||
| chr3:99669123 | T | TTATATAT others(17): Show |
3 | a0001c0001t0003g0190 a0001c0001t0003g0194 a0001c0001t0027g0191 |
3 | HG00597.hp1 HG02523.hp2 NA18952.hp2 |
intron_variant | MODIFIER | c.-129+30460_-129+30 others(30): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669123 | ||||||
| chr3:99669123 | T | TTATATAT others(19): Show |
2 | a0001c0001t0003g0192 a0001c0001t0003g0193 |
2 | NA18969.hp1 NA19009.hp2 |
intron_variant | MODIFIER | c.-129+30483_-129+30 others(32): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669123 | ||||||
| chr3:99669123 | TTA | T | 5 | a0001c0001t0001g0031 a0001c0001t0004g0070 a0001c0001t0004g0071 others(2): Show |
5 | HG00438.hp1 HG00735.hp1 HG01109.hp1 others(2): Show |
intron_variant | MODIFIER | c.-129+30482_-129+30 others(8): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669123 | ||||||
| chr3:99669123 | TTATA | T | 5 | a0001c0001t0003g0212 a0001c0001t0003g0258 a0001c0001t0009g0257 others(2): Show |
5 | HG02257.hp2 HG02615.hp1 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.-129+30480_-129+30 others(10): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669123 | ||||||
| chr3:99669123 | TTATATA | T | 13 | a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0005g0058 others(10): Show |
13 | HG00323.hp1 HG00438.hp2 HG00738.hp2 others(10): Show |
intron_variant | MODIFIER | c.-129+30478_-129+30 others(12): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669123 | ||||||
| chr3:99669140 | T | G | 2 | a0001c0001t0001g0006 a0001c0001t0006g0226 |
2 | HG03579.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.-129+30476T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99669140 | |||||||
| chr3:99669142 | T | G | 14 | a0001c0001t0001g0006 a0001c0001t0002g0232 a0001c0001t0003g0084 others(11): Show |
14 | HG00639.hp1 HG02055.hp2 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.-129+30478T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99669142 | |||||||
| chr3:99669144 | T | G | 35 | a0001c0001t0001g0006 a0001c0001t0001g0120 a0001c0001t0001g0198 others(32): Show |
35 | HG00323.hp1 HG00438.hp2 HG00639.hp1 others(32): Show |
intron_variant | MODIFIER | c.-129+30480T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99669144 | |||||||
| chr3:99669146 | T | C | 3 | a0001c0001t0003g0258 a0001c0001t0009g0257 a0001c0001t0028g0139 |
3 | HG02257.hp2 HG02723.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.-129+30482T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99669146 | |||||||
| chr3:99669146 | T | G | 37 | a0001c0001t0001g0006 a0001c0001t0001g0031 a0001c0001t0001g0120 others(34): Show |
37 | HG00140.hp1 HG00323.hp1 HG00438.hp2 others(34): Show |
intron_variant | MODIFIER | c.-129+30482T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99669146 | |||||||
| chr3:99669146 | T | TATATATA others(17): Show |
1 | a0001c0001t0003g0184 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.-129+30483_-129+30 others(30): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669146 | ||||||
| chr3:99669146 | T | TATATATA others(19): Show |
1 | a0001c0001t0003g0200 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.-129+30483_-129+30 others(32): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669146 | ||||||
| chr3:99669146 | T | TATATATA others(21): Show |
1 | a0001c0001t0006g0219 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-129+30483_-129+30 others(34): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669146 | ||||||
| chr3:99669146 | T | TATATATA others(25): Show |
1 | a0001c0001t0002g0125 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-129+30483_-129+30 others(38): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669146 | ||||||
| chr3:99669146 | T | TATATATA others(19): Show |
1 | a0001c0001t0003g0203 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.-129+30483_-129+30 others(32): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669146 | ||||||
| chr3:99669146 | T | TATATATA others(13): Show |
1 | a0001c0001t0003g0188 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.-129+30483_-129+30 others(26): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669146 | ||||||
| chr3:99669146 | T | TATATATA others(15): Show |
1 | a0001c0001t0003g0187 | 1 | NA19091.hp2 | intron_variant | MODIFIER | c.-129+30483_-129+30 others(28): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669146 | ||||||
| chr3:99669146 | T | TATATATA others(17): Show |
1 | a0001c0001t0003g0186 | 1 | NA18980.hp1 | intron_variant | MODIFIER | c.-129+30483_-129+30 others(30): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669146 | ||||||
| chr3:99669146 | T | TATATATA others(19): Show |
1 | a0001c0001t0003g0183 | 1 | NA19054.hp2 | intron_variant | MODIFIER | c.-129+30483_-129+30 others(32): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669146 | ||||||
| chr3:99669146 | T | TATATATA others(21): Show |
1 | a0001c0001t0003g0185 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.-129+30483_-129+30 others(34): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669146 | ||||||
| chr3:99669146 | T | TATATATA others(15): Show |
1 | a0001c0001t0003g0196 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.-129+30483_-129+30 others(28): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669146 | ||||||
| chr3:99669146 | T | TATATATA others(21): Show |
1 | a0001c0001t0003g0189 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.-129+30483_-129+30 others(34): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669146 | ||||||
| chr3:99669146 | T | TATATATA others(23): Show |
1 | a0001c0001t0003g0149 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.-129+30483_-129+30 others(36): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669146 | ||||||
| chr3:99669146 | T | TATATATA others(19): Show |
1 | a0001c0001t0003g0195 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.-129+30483_-129+30 others(32): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669146 | ||||||
| chr3:99669146 | T | TATATATA others(23): Show |
1 | a0001c0001t0004g0157 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.-129+30483_-129+30 others(36): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669146 | ||||||
| chr3:99669146 | T | TATATATA others(25): Show |
2 | a0001c0001t0007g0045 a0001c0001t0007g0255 |
2 | HG02922.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.-129+30483_-129+30 others(38): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669146 | ||||||
| chr3:99669146 | T | TATATATA others(29): Show |
1 | a0001c0001t0003g0150 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.-129+30483_-129+30 others(42): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669146 | ||||||
| chr3:99669146 | T | TATATATA others(31): Show |
1 | a0001c0001t0003g0032 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.-129+30483_-129+30 others(44): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669146 | ||||||
| chr3:99669146 | TAGAGGGA others(5): Show |
T | 2 | a0001c0001t0030g0231 a0001c0004t0004g0254 |
2 | HG01891.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.-129+30487_-129+30 others(18): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669146 | ||||||
| chr3:99669148 | G | T | 10 | a0001c0001t0001g0054 a0001c0001t0001g0077 a0001c0001t0001g0122 others(7): Show |
10 | HG01074.hp2 HG01168.hp2 HG01516.hp1 others(7): Show |
intron_variant | MODIFIER | c.-129+30484G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99669148 | |||||||
| chr3:99669149 | AGG | A | 11 | a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0077 others(8): Show |
11 | HG00735.hp2 HG01168.hp2 HG02080.hp2 others(8): Show |
intron_variant | MODIFIER | c.-129+30487_-129+30 others(8): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669149 | ||||||
| chr3:99669151 | G | A | 56 | a0001c0001t0001g0031 a0001c0001t0001g0120 a0001c0001t0001g0122 others(53): Show |
56 | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(53): Show |
intron_variant | MODIFIER | c.-129+30487G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99669151 | |||||||
| chr3:99669151 | G | GGA | 7 | a0001c0001t0001g0033 a0001c0001t0001g0162 a0001c0001t0002g0168 others(4): Show |
7 | HG00323.hp2 HG01934.hp1 HG01934.hp2 others(4): Show |
intron_variant | MODIFIER | c.-129+30517_-129+30 others(8): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669151 | ||||||
| chr3:99669151 | GGA | G | 79 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(76): Show |
82 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(79): Show |
intron_variant | MODIFIER | c.-129+30517_-129+30 others(8): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99669151 | ||||||
| chr3:99669152 | G | T | 6 | a0001c0001t0001g0054 a0001c0001t0001g0077 a0001c0001t0004g0012 others(3): Show |
6 | HG01168.hp2 HG02129.hp1 NA18942.hp1 others(3): Show |
intron_variant | MODIFIER | c.-129+30488G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99669152 | |||||||
| chr3:99669153 | A | G | 2 | a0001c0001t0011g0005 a0001c0001t0011g0205 |
2 | HG03209.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.-129+30489A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99669153 | |||||||
| chr3:99669154 | G | T | 1 | a0001c0001t0004g0078 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.-129+30490G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99669154 | |||||||
| chr3:99669155 | A | G | 5 | a0001c0001t0003g0212 a0001c0001t0003g0258 a0001c0001t0009g0257 others(2): Show |
5 | HG02257.hp2 HG02615.hp1 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.-129+30491A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99669155 | |||||||
| chr3:99669157 | A | G | 13 | a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0005g0058 others(10): Show |
13 | HG00323.hp1 HG00438.hp2 HG00738.hp2 others(10): Show |
intron_variant | MODIFIER | c.-129+30493A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99669157 | |||||||
| chr3:99669160 | G | T | 2 | a0001c0001t0030g0231 a0001c0004t0004g0254 |
2 | HG01891.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.-129+30496G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99669160 | |||||||
| chr3:99669236 | C | G | 1 | a0001c0001t0020g0123 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.-129+30572C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99669236 | |||||||
| chr3:99669415 | T | C | 23 | a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0055 others(20): Show |
23 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(20): Show |
intron_variant | MODIFIER | c.-129+30751T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99669415 | |||||||
| chr3:99669457 | A | G | 1 | a0001c0001t0020g0123 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.-129+30793A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99669457 | |||||||
| chr3:99669671 | T | C | 23 | a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0055 others(20): Show |
23 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(20): Show |
intron_variant | MODIFIER | c.-129+31007T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99669671 | |||||||
| chr3:99669736 | A | G | 2 | a0001c0001t0001g0077 a0001c0001t0004g0076 |
2 | NA18942.hp1 NA19074.hp1 |
intron_variant | MODIFIER | c.-129+31072A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99669736 | |||||||
| chr3:99669825 | C | T | 2 | a0001c0001t0001g0235 a0001c0001t0001g0236 |
2 | HG02809.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.-129+31161C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99669825 | |||||||
| chr3:99669899 | G | A | 25 | a0001c0001t0002g0125 a0001c0001t0003g0032 a0001c0001t0003g0149 others(22): Show |
25 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(22): Show |
intron_variant | MODIFIER | c.-129+31235G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99669899 | |||||||
| chr3:99669976 | A | C | 1 | a0001c0001t0017g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-129+31312A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99669976 | |||||||
| chr3:99670033 | A | G | 1 | a0001c0001t0005g0224 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.-129+31369A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99670033 | |||||||
| chr3:99670490 | G | T | 25 | a0001c0001t0002g0125 a0001c0001t0003g0032 a0001c0001t0003g0149 others(22): Show |
25 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(22): Show |
intron_variant | MODIFIER | c.-129+31826G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99670490 | |||||||
| chr3:99670515 | T | G | 1 | a0001c0001t0007g0166 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.-129+31851T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99670515 | |||||||
| chr3:99670636 | C | T | 1 | a0001c0001t0004g0093 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.-129+31972C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99670636 | |||||||
| chr3:99670684 | G | A | 23 | a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0055 others(20): Show |
23 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(20): Show |
intron_variant | MODIFIER | c.-129+32020G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99670684 | |||||||
| chr3:99670713 | C | T | 1 | a0001c0001t0001g0051 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-129+32049C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99670713 | |||||||
| chr3:99670838 | A | G | 23 | a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0055 others(20): Show |
23 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(20): Show |
intron_variant | MODIFIER | c.-129+32174A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99670838 | |||||||
| chr3:99670945 | GGT | G | 25 | a0001c0001t0002g0125 a0001c0001t0003g0032 a0001c0001t0003g0149 others(22): Show |
25 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(22): Show |
intron_variant | MODIFIER | c.-129+32300_-129+32 others(8): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99670945 | ||||||
| chr3:99670997 | G | A | 1 | a0001c0001t0003g0084 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.-129+32333G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99670997 | |||||||
| chr3:99671146 | CA | C | 25 | a0001c0001t0002g0125 a0001c0001t0003g0032 a0001c0001t0003g0149 others(22): Show |
25 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(22): Show |
intron_variant | MODIFIER | c.-129+32485delA | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99671146 | ||||||
| chr3:99671204 | T | A | 144 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 others(141): Show |
147 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(144): Show |
intron_variant | MODIFIER | c.-129+32540T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99671204 | |||||||
| chr3:99671337 | G | A | 149 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(146): Show |
152 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(149): Show |
intron_variant | MODIFIER | c.-129+32673G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99671337 | |||||||
| chr3:99671373 | A | G | 43 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0038 others(40): Show |
45 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(42): Show |
intron_variant | MODIFIER | c.-129+32709A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99671373 | |||||||
| chr3:99671530 | T | C | 3 | a0001c0001t0003g0258 a0001c0001t0009g0257 a0001c0001t0028g0139 |
3 | HG02257.hp2 HG02723.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.-129+32866T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99671530 | |||||||
| chr3:99671594 | C | G | 43 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0038 others(40): Show |
45 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(42): Show |
intron_variant | MODIFIER | c.-129+32930C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99671594 | |||||||
| chr3:99671699 | A | G | 2 | a0001c0001t0001g0235 a0001c0001t0001g0236 |
2 | HG02809.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.-129+33035A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99671699 | |||||||
| chr3:99671787 | C | A | 2 | a0001c0001t0003g0183 a0001c0001t0003g0200 |
2 | NA19054.hp2 NA19064.hp2 |
intron_variant | MODIFIER | c.-129+33123C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99671787 | |||||||
| chr3:99672368 | A | C | 1 | a0001c0001t0001g0236 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.-129+33704A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99672368 | |||||||
| chr3:99672484 | T | C | 5 | a0001c0001t0003g0032 a0001c0001t0003g0149 a0001c0001t0003g0150 others(2): Show |
5 | HG02896.hp1 HG02922.hp2 HG03041.hp2 others(2): Show |
intron_variant | MODIFIER | c.-129+33820T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99672484 | |||||||
| chr3:99672497 | A | C | 7 | a0001c0001t0001g0209 a0001c0001t0001g0216 a0001c0001t0001g0217 others(4): Show |
7 | HG01975.hp2 HG02145.hp1 HG02257.hp1 others(4): Show |
intron_variant | MODIFIER | c.-129+33833A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99672497 | |||||||
| chr3:99672518 | T | C | 3 | a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0018g0182 |
3 | HG00323.hp1 HG01081.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.-129+33854T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99672518 | |||||||
| chr3:99672581 | C | T | 25 | a0001c0001t0002g0125 a0001c0001t0003g0032 a0001c0001t0003g0149 others(22): Show |
25 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(22): Show |
intron_variant | MODIFIER | c.-129+33917C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99672581 | |||||||
| chr3:99672638 | T | A | 2 | a0001c0001t0001g0209 a0001c0001t0020g0123 |
2 | HG02486.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.-129+33974T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99672638 | |||||||
| chr3:99672787 | G | C | 2 | a0001c0001t0010g0141 a0001c0001t0010g0142 |
2 | HG03927.hp1 HG04115.hp2 |
intron_variant | MODIFIER | c.-129+34123G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99672787 | |||||||
| chr3:99673089 | G | T | 149 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(146): Show |
152 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(149): Show |
intron_variant | MODIFIER | c.-129+34425G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99673089 | |||||||
| chr3:99673175 | AT | A | 25 | a0001c0001t0002g0125 a0001c0001t0003g0032 a0001c0001t0003g0149 others(22): Show |
25 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(22): Show |
intron_variant | MODIFIER | c.-129+34520delT | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99673175 | ||||||
| chr3:99673218 | C | A | 2 | a0001c0001t0001g0235 a0001c0001t0001g0236 |
2 | HG02809.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.-129+34554C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99673218 | |||||||
| chr3:99673340 | A | G | 1 | a0001c0001t0002g0202 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.-129+34676A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99673340 | |||||||
| chr3:99673552 | T | C | 3 | a0001c0001t0001g0006 a0001c0001t0006g0156 a0001c0001t0019g0037 |
3 | HG02280.hp1 HG03486.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.-129+34888T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99673552 | |||||||
| chr3:99673664 | T | C | 3 | a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0018g0182 |
3 | HG00323.hp1 HG01081.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.-129+35000T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99673664 | |||||||
| chr3:99674170 | A | G | 1 | a0001c0001t0007g0255 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.-129+35506A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99674170 | |||||||
| chr3:99674246 | A | G | 2 | a0001c0001t0001g0209 a0001c0001t0020g0123 |
2 | HG02486.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.-129+35582A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99674246 | |||||||
| chr3:99674416 | T | C | 1 | a0001c0001t0003g0128 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.-129+35752T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99674416 | |||||||
| chr3:99674444 | T | A | 3 | a0001c0001t0003g0088 a0001c0001t0003g0130 a0001c0001t0006g0129 |
3 | NA18971.hp2 NA19004.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.-129+35780T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99674444 | |||||||
| chr3:99674444 | T | TA | 6 | a0001c0001t0003g0187 a0001c0001t0027g0191 a0001c0002t0008g0039 others(3): Show |
6 | HG02109.hp1 HG02523.hp2 HG02630.hp2 others(3): Show |
intron_variant | MODIFIER | c.-129+35792dupA | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99674444 | ||||||
| chr3:99674444 | T | TAA | 23 | a0001c0001t0002g0125 a0001c0001t0003g0032 a0001c0001t0003g0149 others(20): Show |
23 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(20): Show |
intron_variant | MODIFIER | c.-129+35791_-129+35 others(8): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99674444 | ||||||
| chr3:99674445 | A | T | 3 | a0001c0001t0001g0033 a0001c0001t0001g0198 a0001c0001t0001g0206 |
3 | HG01081.hp1 HG02559.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.-129+35781A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99674445 | |||||||
| chr3:99674512 | A | G | 1 | a0001c0001t0005g0140 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.-129+35848A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99674512 | |||||||
| chr3:99674588 | G | A | 1 | a0001c0001t0001g0178 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.-129+35924G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99674588 | |||||||
| chr3:99674673 | G | T | 1 | a0001c0001t0001g0244 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.-129+36009G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99674673 | |||||||
| chr3:99674707 | C | T | 23 | a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0055 others(20): Show |
23 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(20): Show |
intron_variant | MODIFIER | c.-129+36043C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99674707 | |||||||
| chr3:99674814 | A | G | 1 | a0001c0001t0002g0177 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.-129+36150A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99674814 | |||||||
| chr3:99675185 | G | T | 12 | a0001c0001t0001g0004 a0001c0001t0001g0206 a0001c0001t0001g0237 others(9): Show |
13 | HG02027.hp2 HG02083.hp1 HG02129.hp2 others(10): Show |
intron_variant | MODIFIER | c.-129+36521G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99675185 | |||||||
| chr3:99675248 | C | T | 25 | a0001c0001t0002g0125 a0001c0001t0003g0032 a0001c0001t0003g0149 others(22): Show |
25 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(22): Show |
intron_variant | MODIFIER | c.-129+36584C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99675248 | |||||||
| chr3:99675310 | A | G | 1 | a0001c0001t0005g0014 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.-129+36646A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99675310 | |||||||
| chr3:99675611 | T | G | 1 | a0001c0001t0006g0229 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.-129+36947T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99675611 | |||||||
| chr3:99675623 | C | T | 4 | a0001c0001t0003g0084 a0001c0001t0006g0138 a0001c0001t0006g0151 others(1): Show |
4 | HG02559.hp2 HG02895.hp2 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.-129+36959C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99675623 | |||||||
| chr3:99675717 | G | A | 1 | a0001c0001t0001g0006 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-129+37053G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99675717 | |||||||
| chr3:99675734 | A | G | 1 | a0001c0001t0004g0208 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-129+37070A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99675734 | |||||||
| chr3:99675769 | C | A | 2 | a0001c0001t0003g0172 a0001c0001t0003g0173 |
2 | HG01257.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.-129+37105C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99675769 | |||||||
| chr3:99675815 | C | T | 2 | a0001c0001t0001g0235 a0001c0001t0001g0236 |
2 | HG02809.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.-129+37151C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99675815 | |||||||
| chr3:99675848 | T | C | 13 | a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0005g0058 others(10): Show |
13 | HG00323.hp1 HG00438.hp2 HG00738.hp2 others(10): Show |
intron_variant | MODIFIER | c.-129+37184T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99675848 | |||||||
| chr3:99675963 | T | C | 43 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0038 others(40): Show |
45 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(42): Show |
intron_variant | MODIFIER | c.-129+37299T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99675963 | |||||||
| chr3:99676197 | T | C | 1 | a0001c0002t0024g0197 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-129+37533T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99676197 | |||||||
| chr3:99676228 | G | T | 2 | a0001c0001t0003g0212 a0001c0003t0029g0213 |
2 | HG02615.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.-129+37564G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99676228 | |||||||
| chr3:99676259 | T | C | 2 | a0001c0001t0006g0138 a0001c0001t0006g0151 |
2 | HG02559.hp2 HG02895.hp2 |
intron_variant | MODIFIER | c.-129+37595T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99676259 | |||||||
| chr3:99676429 | G | A | 1 | a0001c0001t0001g0122 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.-129+37765G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99676429 | |||||||
| chr3:99676538 | A | T | 1 | a0001c0001t0003g0050 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.-129+37874A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99676538 | |||||||
| chr3:99676700 | A | T | 15 | a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0003g0212 others(12): Show |
15 | HG00323.hp1 HG00438.hp2 HG00738.hp2 others(12): Show |
intron_variant | MODIFIER | c.-129+38036A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99676700 | |||||||
| chr3:99676987 | G | A | 1 | a0001c0001t0011g0047 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.-129+38323G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99676987 | |||||||
| chr3:99677012 | G | GT | 4 | a0001c0002t0008g0039 a0001c0002t0008g0040 a0001c0002t0008g0041 others(1): Show |
4 | HG02109.hp1 HG02630.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.-129+38351dupT | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99677012 | ||||||
| chr3:99677057 | A | G | 1 | a0001c0001t0001g0144 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.-129+38393A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99677057 | |||||||
| chr3:99677060 | G | GAT | 21 | a0001c0001t0001g0031 a0001c0001t0001g0055 a0001c0001t0001g0077 others(18): Show |
21 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(18): Show |
intron_variant | MODIFIER | c.-129+38397_-129+38 others(8): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99677060 | ||||||
| chr3:99677062 | A | T | 2 | a0001c0001t0001g0054 a0001c0001t0001g0124 |
2 | NA18971.hp1 NA19064.hp1 |
intron_variant | MODIFIER | c.-129+38398A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99677062 | |||||||
| chr3:99677064 | A | G | 21 | a0001c0001t0001g0031 a0001c0001t0001g0055 a0001c0001t0001g0077 others(18): Show |
21 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(18): Show |
intron_variant | MODIFIER | c.-129+38400A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99677064 | |||||||
| chr3:99677064 | AAG | A | 4 | a0001c0001t0001g0054 a0001c0001t0001g0124 a0001c0001t0003g0258 others(1): Show |
4 | HG02723.hp2 HG03540.hp2 NA18971.hp1 others(1): Show |
intron_variant | MODIFIER | c.-129+38419_-129+38 others(8): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99677064 | ||||||
| chr3:99677064 | AAGAG | A | 26 | a0001c0001t0001g0110 a0001c0001t0002g0125 a0001c0001t0003g0032 others(23): Show |
26 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(23): Show |
intron_variant | MODIFIER | c.-129+38417_-129+38 others(10): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99677064 | ||||||
| chr3:99677145 | C | CAT | 3 | a0001c0001t0001g0006 a0001c0001t0006g0156 a0001c0001t0019g0037 |
3 | HG02280.hp1 HG03486.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.-129+38493_-129+38 others(8): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99677145 | ||||||
| chr3:99677300 | T | C | 1 | a0001c0001t0003g0088 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.-129+38636T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99677300 | |||||||
| chr3:99677309 | G | A | 23 | a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0055 others(20): Show |
23 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(20): Show |
intron_variant | MODIFIER | c.-129+38645G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99677309 | |||||||
| chr3:99677428 | T | C | 23 | a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0055 others(20): Show |
23 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(20): Show |
intron_variant | MODIFIER | c.-129+38764T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99677428 | |||||||
| chr3:99677464 | T | A | 1 | a0001c0001t0005g0024 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-129+38800T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99677464 | |||||||
| chr3:99677480 | G | A | 23 | a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0055 others(20): Show |
23 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(20): Show |
intron_variant | MODIFIER | c.-129+38816G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99677480 | |||||||
| chr3:99677747 | C | G | 2 | a0001c0001t0004g0253 a0001c0001t0006g0226 |
2 | NA19030.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.-129+39083C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99677747 | |||||||
| chr3:99677789 | T | C | 4 | a0001c0001t0001g0237 a0001c0001t0002g0136 a0001c0001t0002g0238 others(1): Show |
4 | HG02129.hp2 NA18953.hp2 NA18969.hp2 others(1): Show |
intron_variant | MODIFIER | c.-129+39125T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99677789 | |||||||
| chr3:99677896 | C | T | 3 | a0001c0001t0005g0090 a0001c0001t0005g0091 a0001c0001t0005g0092 |
3 | HG00741.hp1 HG02738.hp1 HG03669.hp2 |
intron_variant | MODIFIER | c.-129+39232C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99677896 | |||||||
| chr3:99677927 | T | C | 2 | a0001c0001t0011g0005 a0001c0001t0011g0205 |
2 | HG03209.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.-129+39263T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99677927 | |||||||
| chr3:99678297 | T | C | 48 | a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0055 others(45): Show |
48 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(45): Show |
intron_variant | MODIFIER | c.-129+39633T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99678297 | |||||||
| chr3:99678365 | T | C | 2 | a0001c0001t0006g0138 a0001c0001t0006g0151 |
2 | HG02559.hp2 HG02895.hp2 |
intron_variant | MODIFIER | c.-129+39701T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99678365 | |||||||
| chr3:99678410 | T | C | 23 | a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0055 others(20): Show |
23 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(20): Show |
intron_variant | MODIFIER | c.-129+39746T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99678410 | |||||||
| chr3:99678582 | T | TTTGTTGT others(9): Show |
1 | a0001c0001t0001g0120 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.-129+39926_-129+39 others(22): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99678582 | ||||||
| chr3:99678582 | T | TTTGTTGT others(12): Show |
47 | a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0055 others(44): Show |
47 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(44): Show |
intron_variant | MODIFIER | c.-129+39923_-129+39 others(25): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99678582 | ||||||
| chr3:99678585 | G | A | 43 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0038 others(40): Show |
45 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(42): Show |
intron_variant | MODIFIER | c.-129+39921G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99678585 | |||||||
| chr3:99678702 | ATTG | A | 3 | a0001c0001t0006g0207 a0001c0001t0006g0210 a0001c0001t0006g0211 |
3 | HG00639.hp1 HG02818.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.-129+40045_-129+40 others(9): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99678702 | ||||||
| chr3:99678917 | C | G | 2 | a0001c0001t0001g0110 a0001c0007t0001g0082 |
2 | NA18943.hp2 NA19056.hp1 |
intron_variant | MODIFIER | c.-129+40253C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99678917 | |||||||
| chr3:99679007 | T | G | 7 | a0001c0001t0001g0209 a0001c0001t0001g0216 a0001c0001t0001g0217 others(4): Show |
7 | HG01975.hp2 HG02145.hp1 HG02257.hp1 others(4): Show |
intron_variant | MODIFIER | c.-129+40343T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99679007 | |||||||
| chr3:99679039 | C | G | 1 | a0001c0001t0001g0215 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.-129+40375C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99679039 | |||||||
| chr3:99679312 | A | G | 23 | a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0055 others(20): Show |
23 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(20): Show |
intron_variant | MODIFIER | c.-129+40648A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99679312 | |||||||
| chr3:99679511 | C | G | 2 | a0001c0001t0003g0128 a0001c0001t0026g0015 |
2 | HG04184.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.-129+40847C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99679511 | |||||||
| chr3:99679562 | C | A | 1 | a0001c0001t0001g0174 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.-129+40898C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99679562 | |||||||
| chr3:99679580 | A | G | 3 | a0001c0001t0006g0207 a0001c0001t0006g0210 a0001c0001t0006g0211 |
3 | HG00639.hp1 HG02818.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.-129+40916A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99679580 | |||||||
| chr3:99679616 | G | A | 1 | a0001c0001t0002g0148 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.-129+40952G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99679616 | |||||||
| chr3:99679618 | G | A | 2 | a0001c0001t0002g0134 a0001c0001t0002g0148 |
2 | HG02698.hp2 HG02738.hp2 |
intron_variant | MODIFIER | c.-129+40954G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99679618 | |||||||
| chr3:99679676 | A | G | 1 | a0001c0001t0001g0053 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-129+41012A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99679676 | |||||||
| chr3:99679780 | G | A | 3 | a0001c0001t0006g0207 a0001c0001t0006g0210 a0001c0001t0006g0211 |
3 | HG00639.hp1 HG02818.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.-129+41116G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99679780 | |||||||
| chr3:99679887 | A | T | 2 | a0001c0001t0003g0212 a0001c0003t0029g0213 |
2 | HG02615.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.-129+41223A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99679887 | |||||||
| chr3:99680079 | T | C | 25 | a0001c0001t0002g0125 a0001c0001t0003g0032 a0001c0001t0003g0149 others(22): Show |
25 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(22): Show |
intron_variant | MODIFIER | c.-129+41415T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99680079 | |||||||
| chr3:99680165 | G | A | 1 | a0001c0001t0004g0208 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-129+41501G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99680165 | |||||||
| chr3:99680222 | A | G | 1 | a0001c0001t0004g0208 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-129+41558A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99680222 | |||||||
| chr3:99680445 | G | A | 25 | a0001c0001t0002g0125 a0001c0001t0003g0032 a0001c0001t0003g0149 others(22): Show |
25 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(22): Show |
intron_variant | MODIFIER | c.-129+41781G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99680445 | |||||||
| chr3:99680565 | C | T | 1 | a0001c0001t0004g0208 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-129+41901C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99680565 | |||||||
| chr3:99680625 | A | G | 170 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(167): Show |
173 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(170): Show |
intron_variant | MODIFIER | c.-129+41961A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99680625 | |||||||
| chr3:99680648 | C | A | 2 | a0001c0001t0001g0004 a0001c0001t0001g0022 |
3 | NA19063.hp1 NA19075.hp1 NA19075.hp2 |
intron_variant | MODIFIER | c.-129+41984C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99680648 | |||||||
| chr3:99680649 | C | G | 2 | a0001c0001t0001g0004 a0001c0001t0001g0022 |
3 | NA19063.hp1 NA19075.hp1 NA19075.hp2 |
intron_variant | MODIFIER | c.-129+41985C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99680649 | |||||||
| chr3:99680706 | T | A | 1 | a0001c0001t0004g0208 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-129+42042T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99680706 | |||||||
| chr3:99680748 | G | C | 4 | a0001c0001t0002g0227 a0001c0001t0006g0221 a0001c0001t0006g0228 others(1): Show |
4 | HG01943.hp1 HG01978.hp1 HG02293.hp2 others(1): Show |
intron_variant | MODIFIER | c.-129+42084G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99680748 | |||||||
| chr3:99680813 | A | G | 1 | a0001c0001t0017g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-129+42149A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99680813 | |||||||
| chr3:99680831 | A | G | 1 | a0001c0001t0017g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-129+42167A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99680831 | |||||||
| chr3:99680837 | C | T | 1 | a0001c0001t0017g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-129+42173C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99680837 | |||||||
| chr3:99680847 | C | T | 1 | a0001c0001t0017g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-129+42183C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99680847 | |||||||
| chr3:99680857 | C | T | 1 | a0001c0001t0017g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-129+42193C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99680857 | |||||||
| chr3:99680868 | T | G | 1 | a0001c0001t0017g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-129+42204T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99680868 | |||||||
| chr3:99680872 | G | A | 1 | a0001c0001t0017g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-129+42208G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99680872 | |||||||
| chr3:99680884 | G | T | 1 | a0001c0001t0017g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-129+42220G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99680884 | |||||||
| chr3:99680886 | A | G | 1 | a0001c0001t0017g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-129+42222A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99680886 | |||||||
| chr3:99680896 | T | C | 1 | a0001c0001t0017g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-129+42232T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99680896 | |||||||
| chr3:99680912 | A | G | 1 | a0001c0001t0017g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-129+42248A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99680912 | |||||||
| chr3:99680917 | A | G | 1 | a0001c0001t0017g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-129+42253A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99680917 | |||||||
| chr3:99680919 | A | G | 1 | a0001c0001t0017g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-129+42255A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99680919 | |||||||
| chr3:99680983 | T | G | 1 | a0001c0001t0002g0127 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.-129+42319T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99680983 | |||||||
| chr3:99681150 | A | G | 1 | a0001c0001t0004g0208 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-129+42486A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99681150 | |||||||
| chr3:99681158 | G | C | 1 | a0001c0001t0001g0044 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.-129+42494G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99681158 | |||||||
| chr3:99681305 | A | G | 1 | a0001c0001t0006g0256 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.-129+42641A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99681305 | |||||||
| chr3:99681632 | G | A | 1 | a0001c0001t0001g0031 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.-129+42968G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99681632 | |||||||
| chr3:99681697 | G | T | 15 | a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0206 others(12): Show |
16 | HG02027.hp2 HG02083.hp1 HG02129.hp2 others(13): Show |
intron_variant | MODIFIER | c.-129+43033G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99681697 | |||||||
| chr3:99681698 | G | A | 2 | a0001c0001t0001g0060 a0001c0001t0001g0068 |
2 | HG01168.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.-129+43034G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99681698 | |||||||
| chr3:99681995 | G | T | 16 | a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 others(13): Show |
16 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(13): Show |
intron_variant | MODIFIER | c.-129+43331G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99681995 | |||||||
| chr3:99682001 | C | T | 5 | a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0007g0025 others(2): Show |
5 | HG01952.hp2 HG02055.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.-129+43337C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99682001 | |||||||
| chr3:99682122 | C | T | 31 | a0001c0001t0002g0125 a0001c0001t0003g0032 a0001c0001t0003g0149 others(28): Show |
31 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(28): Show |
intron_variant | MODIFIER | c.-129+43458C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99682122 | |||||||
| chr3:99682143 | G | A | 1 | a0001c0001t0002g0250 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.-129+43479G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99682143 | |||||||
| chr3:99682348 | G | A | 31 | a0001c0001t0002g0125 a0001c0001t0003g0032 a0001c0001t0003g0149 others(28): Show |
31 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(28): Show |
intron_variant | MODIFIER | c.-129+43684G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99682348 | |||||||
| chr3:99682434 | A | G | 1 | a0001c0001t0002g0154 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.-129+43770A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99682434 | |||||||
| chr3:99682605 | A | T | 2 | a0001c0001t0001g0065 a0001c0001t0001g0066 |
2 | HG01346.hp1 HG03669.hp1 |
intron_variant | MODIFIER | c.-129+43941A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99682605 | |||||||
| chr3:99682615 | TA | T | 61 | a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0055 others(58): Show |
62 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(59): Show |
intron_variant | MODIFIER | c.-129+43965delA | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99682615 | ||||||
| chr3:99682641 | A | C | 1 | a0001c0001t0005g0126 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.-129+43977A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99682641 | |||||||
| chr3:99682686 | C | T | 3 | a0001c0001t0006g0207 a0001c0001t0006g0210 a0001c0001t0006g0211 |
3 | HG00639.hp1 HG02818.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.-129+44022C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99682686 | |||||||
| chr3:99682745 | CCTAT | C | 3 | a0001c0001t0001g0006 a0001c0001t0006g0156 a0001c0001t0019g0037 |
3 | HG02280.hp1 HG03486.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.-129+44082_-129+44 others(10): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99682745 | |||||||
| chr3:99682794 | A | G | 43 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0038 others(40): Show |
45 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(42): Show |
intron_variant | MODIFIER | c.-129+44130A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99682794 | |||||||
| chr3:99682865 | TG | T | 150 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(147): Show |
153 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(150): Show |
intron_variant | MODIFIER | c.-129+44203delG | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99682865 | ||||||
| chr3:99683084 | A | G | 1 | a0001c0001t0005g0028 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.-129+44420A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99683084 | |||||||
| chr3:99683122 | G | A | 6 | a0001c0001t0011g0005 a0001c0001t0011g0205 a0001c0002t0008g0039 others(3): Show |
6 | HG02109.hp1 HG02630.hp2 HG03209.hp1 others(3): Show |
intron_variant | MODIFIER | c.-129+44458G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99683122 | |||||||
| chr3:99683160 | T | C | 150 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(147): Show |
153 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(150): Show |
intron_variant | MODIFIER | c.-129+44496T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99683160 | |||||||
| chr3:99683406 | T | A | 1 | a0001c0001t0006g0156 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.-129+44742T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99683406 | |||||||
| chr3:99683499 | T | C | 1 | a0001c0001t0002g0161 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.-129+44835T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99683499 | |||||||
| chr3:99683909 | T | C | 2 | a0001c0001t0001g0099 a0001c0001t0001g0100 |
2 | NA18964.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.-129+45245T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99683909 | |||||||
| chr3:99683925 | T | C | 2 | a0001c0001t0002g0125 a0001c0001t0004g0157 |
2 | HG03209.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.-129+45261T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99683925 | |||||||
| chr3:99683983 | G | A | 1 | a0001c0001t0011g0005 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.-129+45319G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99683983 | |||||||
| chr3:99684032 | A | G | 2 | a0001c0001t0001g0002 a0001c0001t0001g0153 |
3 | HG01192.hp2 HG01256.hp2 HG01258.hp2 |
intron_variant | MODIFIER | c.-129+45368A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99684032 | |||||||
| chr3:99684274 | C | G | 1 | a0001c0001t0001g0002 | 2 | HG01256.hp2 HG01258.hp2 |
intron_variant | MODIFIER | c.-129+45610C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99684274 | |||||||
| chr3:99684614 | G | A | 2 | a0001c0001t0004g0253 a0001c0001t0006g0226 |
2 | NA19030.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.-129+45950G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99684614 | |||||||
| chr3:99684737 | C | T | 3 | a0001c0001t0001g0175 a0001c0001t0006g0027 a0001c0001t0006g0256 |
3 | HG01934.hp1 HG02976.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.-129+46073C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99684737 | |||||||
| chr3:99684886 | G | T | 22 | a0001c0001t0001g0147 a0001c0001t0001g0162 a0001c0001t0001g0165 others(19): Show |
22 | HG00323.hp2 HG01192.hp1 HG01361.hp2 others(19): Show |
intron_variant | MODIFIER | c.-129+46222G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99684886 | |||||||
| chr3:99684961 | C | G | 22 | a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0206 others(19): Show |
23 | HG01975.hp2 HG02027.hp2 HG02083.hp1 others(20): Show |
intron_variant | MODIFIER | c.-129+46297C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99684961 | |||||||
| chr3:99684971 | A | G | 1 | a0001c0001t0009g0222 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.-129+46307A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99684971 | |||||||
| chr3:99685029 | T | A | 1 | a0001c0001t0004g0208 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-129+46365T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99685029 | |||||||
| chr3:99685033 | G | A | 67 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0038 others(64): Show |
69 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(66): Show |
intron_variant | MODIFIER | c.-129+46369G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99685033 | |||||||
| chr3:99685057 | T | C | 2 | a0001c0001t0003g0212 a0001c0003t0029g0213 |
2 | HG02615.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.-129+46393T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99685057 | |||||||
| chr3:99685181 | A | G | 49 | a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0055 others(46): Show |
49 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(46): Show |
intron_variant | MODIFIER | c.-129+46517A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99685181 | |||||||
| chr3:99685276 | A | G | 2 | a0001c0001t0011g0005 a0001c0001t0011g0205 |
2 | HG03209.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.-129+46612A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99685276 | |||||||
| chr3:99685295 | C | T | 1 | a0002c0006t0001g0087 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.-129+46631C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99685295 | |||||||
| chr3:99685416 | T | A | 6 | a0001c0001t0003g0258 a0001c0001t0006g0207 a0001c0001t0006g0210 others(3): Show |
6 | HG00639.hp1 HG02257.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.-129+46752T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99685416 | |||||||
| chr3:99685469 | G | A | 24 | a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0055 others(21): Show |
24 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(21): Show |
intron_variant | MODIFIER | c.-129+46805G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99685469 | |||||||
| chr3:99685507 | C | T | 2 | a0001c0001t0004g0253 a0001c0001t0006g0226 |
2 | NA19030.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.-129+46843C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99685507 | |||||||
| chr3:99685561 | T | C | 3 | a0001c0001t0003g0258 a0001c0001t0009g0257 a0001c0001t0028g0139 |
3 | HG02257.hp2 HG02723.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.-129+46897T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99685561 | |||||||
| chr3:99686014 | A | C | 24 | a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0055 others(21): Show |
24 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(21): Show |
intron_variant | MODIFIER | c.-129+47350A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99686014 | |||||||
| chr3:99686017 | G | A | 3 | a0001c0001t0001g0006 a0001c0001t0006g0156 a0001c0001t0019g0037 |
3 | HG02280.hp1 HG03486.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.-129+47353G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99686017 | |||||||
| chr3:99686145 | C | T | 49 | a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0055 others(46): Show |
49 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(46): Show |
intron_variant | MODIFIER | c.-129+47481C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99686145 | |||||||
| chr3:99686176 | AAAT | A | 24 | a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0055 others(21): Show |
24 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(21): Show |
intron_variant | MODIFIER | c.-129+47520_-129+47 others(9): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99686176 | ||||||
| chr3:99686367 | A | G | 1 | a0001c0007t0001g0082 | 1 | NA18943.hp2 | intron_variant | MODIFIER | c.-129+47703A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99686367 | |||||||
| chr3:99686456 | GT | G | 3 | a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0083 |
3 | HG01952.hp1 NA19075.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.-129+47793delT | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99686456 | |||||||
| chr3:99686621 | T | A | 49 | a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0055 others(46): Show |
49 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(46): Show |
intron_variant | MODIFIER | c.-129+47957T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99686621 | |||||||
| chr3:99686649 | A | C | 1 | a0001c0001t0001g0108 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.-129+47985A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99686649 | |||||||
| chr3:99686745 | G | A | 1 | a0001c0001t0001g0009 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.-129+48081G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99686745 | |||||||
| chr3:99686997 | T | C | 49 | a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0055 others(46): Show |
49 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(46): Show |
intron_variant | MODIFIER | c.-129+48333T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99686997 | |||||||
| chr3:99687132 | C | T | 2 | a0001c0001t0005g0091 a0001c0001t0005g0092 |
2 | HG00741.hp1 HG03669.hp2 |
intron_variant | MODIFIER | c.-129+48468C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99687132 | |||||||
| chr3:99687427 | C | CGT | 4 | a0001c0001t0001g0116 a0001c0001t0006g0138 a0001c0001t0006g0151 others(1): Show |
4 | HG02559.hp2 HG02895.hp2 NA19085.hp1 others(1): Show |
intron_variant | MODIFIER | c.-129+48776_-129+48 others(8): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99687427 | ||||||
| chr3:99687577 | T | C | 15 | a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0003g0212 others(12): Show |
15 | HG00323.hp1 HG00438.hp2 HG00738.hp2 others(12): Show |
intron_variant | MODIFIER | c.-129+48913T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99687577 | |||||||
| chr3:99687636 | G | A | 1 | a0001c0001t0002g0154 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.-129+48972G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99687636 | |||||||
| chr3:99687766 | T | G | 2 | a0001c0001t0011g0005 a0001c0001t0011g0205 |
2 | HG03209.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.-129+49102T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99687766 | |||||||
| chr3:99687932 | A | G | 1 | a0001c0001t0002g0202 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.-129+49268A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99687932 | |||||||
| chr3:99688009 | A | G | 1 | a0001c0001t0001g0006 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-129+49345A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99688009 | |||||||
| chr3:99688048 | T | C | 24 | a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0055 others(21): Show |
24 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(21): Show |
intron_variant | MODIFIER | c.-129+49384T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99688048 | |||||||
| chr3:99688134 | T | C | 25 | a0001c0001t0002g0125 a0001c0001t0003g0032 a0001c0001t0003g0149 others(22): Show |
25 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(22): Show |
intron_variant | MODIFIER | c.-129+49470T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99688134 | |||||||
| chr3:99688224 | T | A | 21 | a0001c0001t0001g0004 a0001c0001t0001g0206 a0001c0001t0001g0209 others(18): Show |
22 | HG01975.hp2 HG02027.hp2 HG02083.hp1 others(19): Show |
intron_variant | MODIFIER | c.-129+49560T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99688224 | |||||||
| chr3:99688308 | AG | A | 25 | a0001c0001t0002g0125 a0001c0001t0003g0032 a0001c0001t0003g0149 others(22): Show |
25 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(22): Show |
intron_variant | MODIFIER | c.-129+49647delG | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99688308 | ||||||
| chr3:99688411 | C | T | 1 | a0001c0001t0002g0161 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.-129+49747C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99688411 | |||||||
| chr3:99688475 | T | C | 1 | a0001c0001t0001g0048 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.-129+49811T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99688475 | |||||||
| chr3:99688485 | C | A | 1 | a0001c0001t0006g0138 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.-129+49821C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99688485 | |||||||
| chr3:99688662 | C | T | 3 | a0001c0001t0001g0116 a0001c0001t0003g0084 a0001c0001t0030g0231 |
3 | HG01891.hp2 HG02896.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.-129+49998C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99688662 | |||||||
| chr3:99688748 | G | A | 25 | a0001c0001t0002g0125 a0001c0001t0003g0032 a0001c0001t0003g0149 others(22): Show |
25 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(22): Show |
intron_variant | MODIFIER | c.-129+50084G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99688748 | |||||||
| chr3:99688771 | G | A | 26 | a0001c0001t0001g0030 a0001c0001t0002g0125 a0001c0001t0003g0032 others(23): Show |
26 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(23): Show |
intron_variant | MODIFIER | c.-129+50107G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99688771 | |||||||
| chr3:99688816 | G | A | 25 | a0001c0001t0002g0125 a0001c0001t0003g0032 a0001c0001t0003g0149 others(22): Show |
25 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(22): Show |
intron_variant | MODIFIER | c.-129+50152G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99688816 | |||||||
| chr3:99688885 | C | T | 2 | a0001c0001t0003g0258 a0001c0001t0009g0257 |
2 | HG02723.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.-129+50221C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99688885 | |||||||
| chr3:99689193 | G | T | 1 | a0001c0001t0004g0208 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-129+50529G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99689193 | |||||||
| chr3:99689468 | A | T | 2 | a0001c0001t0006g0156 a0001c0001t0019g0037 |
2 | HG02280.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.-129+50804A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99689468 | |||||||
| chr3:99689496 | C | T | 1 | a0001c0001t0004g0208 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-129+50832C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99689496 | |||||||
| chr3:99689609 | T | G | 3 | a0001c0001t0006g0138 a0001c0001t0006g0151 a0001c0001t0017g0086 |
3 | HG02559.hp2 HG02895.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.-129+50945T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99689609 | |||||||
| chr3:99689693 | T | G | 1 | a0001c0001t0003g0152 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.-129+51029T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99689693 | |||||||
| chr3:99689747 | GAAAA | G | 17 | a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0077 others(14): Show |
17 | HG00438.hp1 HG00735.hp2 HG01109.hp1 others(14): Show |
intron_variant | MODIFIER | c.-129+51085_-129+51 others(10): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99689747 | ||||||
| chr3:99689753 | C | T | 17 | a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0077 others(14): Show |
17 | HG00438.hp1 HG00735.hp2 HG01109.hp1 others(14): Show |
intron_variant | MODIFIER | c.-129+51089C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99689753 | |||||||
| chr3:99689754 | A | G | 17 | a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0077 others(14): Show |
17 | HG00438.hp1 HG00735.hp2 HG01109.hp1 others(14): Show |
intron_variant | MODIFIER | c.-129+51090A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99689754 | |||||||
| chr3:99689845 | C | T | 4 | a0001c0001t0001g0006 a0001c0001t0006g0156 a0001c0001t0019g0037 others(1): Show |
4 | HG02280.hp1 HG03486.hp1 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.-129+51181C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99689845 | |||||||
| chr3:99689846 | G | A | 2 | a0001c0001t0004g0253 a0001c0001t0006g0226 |
2 | NA19030.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.-129+51182G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99689846 | |||||||
| chr3:99689899 | C | T | 5 | a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 others(2): Show |
5 | HG01975.hp2 HG02145.hp1 HG02257.hp1 others(2): Show |
intron_variant | MODIFIER | c.-129+51235C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99689899 | |||||||
| chr3:99690061 | G | A | 1 | a0001c0001t0001g0009 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.-129+51397G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99690061 | |||||||
| chr3:99690151 | C | T | 3 | a0001c0001t0006g0207 a0001c0001t0006g0210 a0001c0001t0006g0211 |
3 | HG00639.hp1 HG02818.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.-129+51487C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99690151 | |||||||
| chr3:99690381 | T | C | 3 | a0001c0001t0006g0207 a0001c0001t0006g0210 a0001c0001t0006g0211 |
3 | HG00639.hp1 HG02818.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.-129+51717T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99690381 | |||||||
| chr3:99690656 | C | T | 49 | a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0055 others(46): Show |
49 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(46): Show |
intron_variant | MODIFIER | c.-129+51992C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99690656 | |||||||
| chr3:99690796 | A | G | 1 | a0001c0001t0001g0206 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.-129+52132A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99690796 | |||||||
| chr3:99690913 | C | T | 49 | a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0055 others(46): Show |
49 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(46): Show |
intron_variant | MODIFIER | c.-129+52249C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99690913 | |||||||
| chr3:99690921 | C | T | 168 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(165): Show |
171 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(168): Show |
intron_variant | MODIFIER | c.-129+52257C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99690921 | |||||||
| chr3:99690994 | A | T | 1 | a0001c0001t0001g0209 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-129+52330A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99690994 | |||||||
| chr3:99691041 | C | A | 1 | a0001c0001t0001g0176 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.-129+52377C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99691041 | |||||||
| chr3:99691170 | T | C | 1 | a0001c0001t0002g0232 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.-129+52506T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99691170 | |||||||
| chr3:99691209 | C | A | 1 | a0001c0001t0002g0251 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.-129+52545C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99691209 | |||||||
| chr3:99691318 | A | G | 47 | a0001c0001t0001g0097 a0001c0001t0001g0237 a0001c0001t0002g0125 others(44): Show |
47 | HG00280.hp1 HG00544.hp2 HG00597.hp1 others(44): Show |
intron_variant | MODIFIER | c.-129+52654A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99691318 | |||||||
| chr3:99691420 | T | A | 1 | a0001c0001t0017g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-129+52756T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99691420 | |||||||
| chr3:99691449 | G | A | 46 | a0001c0001t0001g0237 a0001c0001t0002g0125 a0001c0001t0002g0131 others(43): Show |
46 | HG00280.hp1 HG00544.hp2 HG00597.hp1 others(43): Show |
intron_variant | MODIFIER | c.-129+52785G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99691449 | |||||||
| chr3:99691472 | C | T | 1 | a0001c0001t0002g0239 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.-129+52808C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99691472 | |||||||
| chr3:99691509 | T | C | 3 | a0001c0001t0006g0138 a0001c0001t0006g0151 a0001c0001t0017g0086 |
3 | HG02559.hp2 HG02895.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.-129+52845T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99691509 | |||||||
| chr3:99691702 | T | A | 3 | a0001c0001t0001g0008 a0001c0001t0001g0036 a0001c0001t0001g0230 |
3 | HG02523.hp1 HG03471.hp2 NA19001.hp2 |
intron_variant | MODIFIER | c.-129+53038T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99691702 | |||||||
| chr3:99691702 | TA | T | 57 | a0001c0001t0001g0031 a0001c0001t0001g0120 a0001c0001t0001g0165 others(54): Show |
57 | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(54): Show |
intron_variant | MODIFIER | c.-129+53056delA | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99691702 | ||||||
| chr3:99691702 | TAA | T | 5 | a0001c0001t0001g0237 a0001c0001t0003g0187 a0001c0001t0003g0203 others(2): Show |
5 | HG02922.hp2 NA18953.hp2 NA19063.hp2 others(2): Show |
intron_variant | MODIFIER | c.-129+53055_-129+53 others(8): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99691702 | ||||||
| chr3:99691703 | A | T | 99 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(96): Show |
102 | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(99): Show |
intron_variant | MODIFIER | c.-129+53039A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99691703 | |||||||
| chr3:99691704 | A | T | 81 | a0001c0001t0001g0002 a0001c0001t0001g0031 a0001c0001t0001g0054 others(78): Show |
82 | HG00280.hp1 HG00323.hp1 HG00438.hp1 others(79): Show |
intron_variant | MODIFIER | c.-129+53040A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99691704 | |||||||
| chr3:99691705 | A | T | 65 | a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0055 others(62): Show |
65 | HG00280.hp1 HG00438.hp1 HG00544.hp2 others(62): Show |
intron_variant | MODIFIER | c.-129+53041A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99691705 | |||||||
| chr3:99691706 | A | T | 11 | a0001c0001t0001g0031 a0001c0001t0001g0120 a0001c0001t0003g0084 others(8): Show |
11 | HG00735.hp1 HG01074.hp2 HG01168.hp2 others(8): Show |
intron_variant | MODIFIER | c.-129+53042A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99691706 | |||||||
| chr3:99691718 | A | T | 12 | a0001c0001t0001g0004 a0001c0001t0001g0206 a0001c0001t0001g0252 others(9): Show |
13 | HG02027.hp2 HG02083.hp1 HG02129.hp2 others(10): Show |
intron_variant | MODIFIER | c.-129+53054A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99691718 | |||||||
| chr3:99691817 | C | T | 67 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0038 others(64): Show |
69 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(66): Show |
intron_variant | MODIFIER | c.-128-53080C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99691817 | |||||||
| chr3:99691969 | C | T | 2 | a0001c0001t0006g0138 a0001c0001t0006g0151 |
2 | HG02559.hp2 HG02895.hp2 |
intron_variant | MODIFIER | c.-128-52928C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99691969 | |||||||
| chr3:99692075 | C | T | 1 | a0001c0001t0001g0106 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.-128-52822C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99692075 | |||||||
| chr3:99692146 | A | C | 1 | a0001c0001t0002g0239 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.-128-52751A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99692146 | |||||||
| chr3:99692198 | A | C | 1 | a0001c0001t0009g0052 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.-128-52699A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99692198 | |||||||
| chr3:99692320 | G | A | 56 | a0001c0001t0001g0237 a0001c0001t0002g0125 a0001c0001t0002g0131 others(53): Show |
56 | HG00280.hp1 HG00544.hp2 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.-128-52577G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99692320 | |||||||
| chr3:99692343 | G | A | 13 | a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0005g0058 others(10): Show |
13 | HG00323.hp1 HG00438.hp2 HG00738.hp2 others(10): Show |
intron_variant | MODIFIER | c.-128-52554G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99692343 | |||||||
| chr3:99692427 | A | T | 1 | a0001c0001t0007g0025 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.-128-52470A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99692427 | |||||||
| chr3:99692446 | C | T | 2 | a0001c0001t0006g0138 a0001c0001t0006g0151 |
2 | HG02559.hp2 HG02895.hp2 |
intron_variant | MODIFIER | c.-128-52451C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99692446 | |||||||
| chr3:99692632 | T | C | 1 | a0001c0001t0001g0243 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.-128-52265T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99692632 | |||||||
| chr3:99693058 | C | T | 1 | a0001c0001t0011g0005 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.-128-51839C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99693058 | |||||||
| chr3:99693312 | T | A | 56 | a0001c0001t0001g0237 a0001c0001t0002g0125 a0001c0001t0002g0131 others(53): Show |
56 | HG00280.hp1 HG00544.hp2 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.-128-51585T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99693312 | |||||||
| chr3:99693339 | A | T | 56 | a0001c0001t0001g0111 a0001c0001t0001g0147 a0001c0001t0001g0237 others(53): Show |
56 | HG00280.hp1 HG00544.hp2 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.-128-51558A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99693339 | |||||||
| chr3:99693701 | A | G | 2 | a0001c0001t0006g0138 a0001c0001t0006g0151 |
2 | HG02559.hp2 HG02895.hp2 |
intron_variant | MODIFIER | c.-128-51196A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99693701 | |||||||
| chr3:99693796 | T | C | 2 | a0001c0001t0003g0084 a0001c0001t0030g0231 |
2 | HG01891.hp2 HG02896.hp2 |
intron_variant | MODIFIER | c.-128-51101T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99693796 | |||||||
| chr3:99693810 | G | T | 1 | a0001c0001t0001g0113 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.-128-51087G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99693810 | |||||||
| chr3:99693942 | G | A | 131 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 others(128): Show |
134 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(131): Show |
intron_variant | MODIFIER | c.-128-50955G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99693942 | |||||||
| chr3:99693955 | T | G | 1 | a0001c0001t0004g0074 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.-128-50942T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99693955 | |||||||
| chr3:99694110 | T | C | 24 | a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0055 others(21): Show |
24 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(21): Show |
intron_variant | MODIFIER | c.-128-50787T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99694110 | |||||||
| chr3:99694182 | C | T | 1 | a0001c0001t0004g0157 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.-128-50715C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99694182 | |||||||
| chr3:99694281 | G | A | 7 | a0001c0001t0001g0209 a0001c0001t0001g0216 a0001c0001t0001g0217 others(4): Show |
7 | HG01975.hp2 HG02145.hp1 HG02257.hp1 others(4): Show |
intron_variant | MODIFIER | c.-128-50616G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99694281 | |||||||
| chr3:99694774 | C | A | 1 | a0001c0001t0004g0253 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-128-50123C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99694774 | |||||||
| chr3:99695319 | G | C | 3 | a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0025g0017 |
3 | NA18959.hp1 NA18981.hp2 NA19066.hp2 |
intron_variant | MODIFIER | c.-128-49578G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99695319 | |||||||
| chr3:99695354 | G | A | 44 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0038 others(41): Show |
46 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(43): Show |
intron_variant | MODIFIER | c.-128-49543G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99695354 | |||||||
| chr3:99695583 | A | ACT | 4 | a0001c0002t0008g0039 a0001c0002t0008g0040 a0001c0002t0008g0041 others(1): Show |
4 | HG02109.hp1 HG02630.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.-128-49298_-128-49 others(8): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99695583 | ||||||
| chr3:99695635 | G | A | 52 | a0001c0001t0001g0237 a0001c0001t0002g0125 a0001c0001t0002g0131 others(49): Show |
52 | HG00280.hp1 HG00544.hp2 HG00597.hp1 others(49): Show |
intron_variant | MODIFIER | c.-128-49262G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99695635 | |||||||
| chr3:99695686 | C | A | 56 | a0001c0001t0001g0237 a0001c0001t0002g0125 a0001c0001t0002g0131 others(53): Show |
56 | HG00280.hp1 HG00544.hp2 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.-128-49211C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99695686 | |||||||
| chr3:99695756 | G | A | 2 | a0001c0001t0002g0135 a0001c0001t0015g0179 |
2 | HG01934.hp2 HG01975.hp1 |
intron_variant | MODIFIER | c.-128-49141G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99695756 | |||||||
| chr3:99696044 | G | A | 52 | a0001c0001t0001g0237 a0001c0001t0002g0125 a0001c0001t0002g0131 others(49): Show |
52 | HG00280.hp1 HG00544.hp2 HG00597.hp1 others(49): Show |
intron_variant | MODIFIER | c.-128-48853G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99696044 | |||||||
| chr3:99696103 | C | T | 1 | a0001c0001t0001g0044 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.-128-48794C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99696103 | |||||||
| chr3:99696244 | A | G | 2 | a0001c0001t0001g0054 a0001c0001t0001g0124 |
2 | NA18971.hp1 NA19064.hp1 |
intron_variant | MODIFIER | c.-128-48653A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99696244 | |||||||
| chr3:99696352 | G | C | 1 | a0001c0001t0003g0196 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.-128-48545G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99696352 | |||||||
| chr3:99696404 | G | A | 3 | a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0068 |
3 | HG01168.hp1 HG01169.hp1 HG02683.hp2 |
intron_variant | MODIFIER | c.-128-48493G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99696404 | |||||||
| chr3:99696474 | C | T | 2 | a0001c0001t0003g0212 a0001c0003t0029g0213 |
2 | HG02615.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.-128-48423C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99696474 | |||||||
| chr3:99696514 | C | A | 70 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0038 others(67): Show |
72 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(69): Show |
intron_variant | MODIFIER | c.-128-48383C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99696514 | |||||||
| chr3:99696686 | A | C | 1 | a0001c0001t0006g0046 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.-128-48211A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99696686 | |||||||
| chr3:99696700 | C | T | 4 | a0001c0002t0008g0039 a0001c0002t0008g0040 a0001c0002t0008g0041 others(1): Show |
4 | HG02109.hp1 HG02630.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.-128-48197C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99696700 | |||||||
| chr3:99696709 | T | C | 1 | a0001c0001t0001g0252 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.-128-48188T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99696709 | |||||||
| chr3:99696806 | T | C | 1 | a0001c0001t0003g0183 | 1 | NA19054.hp2 | intron_variant | MODIFIER | c.-128-48091T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99696806 | |||||||
| chr3:99696890 | C | G | 58 | a0001c0001t0001g0006 a0001c0001t0001g0237 a0001c0001t0002g0125 others(55): Show |
58 | HG00280.hp1 HG00544.hp2 HG00597.hp1 others(55): Show |
intron_variant | MODIFIER | c.-128-48007C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99696890 | |||||||
| chr3:99696976 | A | AT | 21 | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0030 others(18): Show |
21 | HG01069.hp1 HG01069.hp2 HG01175.hp1 others(18): Show |
intron_variant | MODIFIER | c.-128-47893dupT | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99696976 | ||||||
| chr3:99696976 | A | ATT | 12 | a0001c0001t0001g0077 a0001c0001t0001g0120 a0001c0001t0003g0084 others(9): Show |
12 | HG01168.hp2 HG02080.hp2 HG02129.hp1 others(9): Show |
intron_variant | MODIFIER | c.-128-47894_-128-47 others(8): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99696976 | ||||||
| chr3:99696976 | AT | A | 22 | a0001c0001t0001g0095 a0001c0001t0001g0105 a0001c0001t0001g0109 others(19): Show |
22 | HG01071.hp2 HG01109.hp2 HG02027.hp2 others(19): Show |
intron_variant | MODIFIER | c.-128-47893delT | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99696976 | ||||||
| chr3:99696976 | ATT | A | 60 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 others(57): Show |
63 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(60): Show |
intron_variant | MODIFIER | c.-128-47894_-128-47 others(8): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99696976 | ||||||
| chr3:99696976 | ATTT | A | 9 | a0001c0001t0001g0118 a0001c0001t0001g0143 a0001c0001t0001g0144 others(6): Show |
9 | HG00741.hp1 HG01943.hp2 HG02257.hp1 others(6): Show |
intron_variant | MODIFIER | c.-128-47895_-128-47 others(9): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99696976 | ||||||
| chr3:99696976 | ATTTTTT | A | 50 | a0001c0001t0001g0237 a0001c0001t0002g0125 a0001c0001t0002g0131 others(47): Show |
50 | HG00280.hp1 HG00544.hp2 HG00597.hp1 others(47): Show |
intron_variant | MODIFIER | c.-128-47898_-128-47 others(12): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99696976 | ||||||
| chr3:99696980 | T | G | 1 | a0001c0001t0001g0209 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-128-47917T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99696980 | |||||||
| chr3:99697010 | G | A | 4 | a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 others(1): Show |
4 | HG01975.hp2 HG02145.hp1 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.-128-47887G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99697010 | |||||||
| chr3:99697124 | C | T | 2 | a0001c0001t0002g0247 a0001c0001t0002g0249 |
2 | HG00140.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.-128-47773C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99697124 | |||||||
| chr3:99697125 | T | C | 1 | a0001c0001t0002g0018 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.-128-47772T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99697125 | |||||||
| chr3:99697268 | G | T | 4 | a0001c0002t0008g0039 a0001c0002t0008g0040 a0001c0002t0008g0041 others(1): Show |
4 | HG02109.hp1 HG02630.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.-128-47629G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99697268 | |||||||
| chr3:99697275 | C | T | 44 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0038 others(41): Show |
46 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(43): Show |
intron_variant | MODIFIER | c.-128-47622C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99697275 | |||||||
| chr3:99697276 | G | A | 14 | a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0061 others(11): Show |
15 | HG00639.hp2 HG00738.hp1 HG01069.hp1 others(12): Show |
intron_variant | MODIFIER | c.-128-47621G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99697276 | |||||||
| chr3:99697277 | C | A | 13 | a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0061 others(10): Show |
14 | HG00639.hp2 HG00738.hp1 HG01069.hp1 others(11): Show |
intron_variant | MODIFIER | c.-128-47620C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99697277 | |||||||
| chr3:99697441 | A | G | 1 | a0001c0001t0001g0118 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.-128-47456A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99697441 | |||||||
| chr3:99697645 | A | T | 1 | a0001c0001t0004g0208 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-128-47252A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99697645 | |||||||
| chr3:99697910 | G | A | 44 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0038 others(41): Show |
46 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(43): Show |
intron_variant | MODIFIER | c.-128-46987G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99697910 | |||||||
| chr3:99698019 | A | G | 1 | a0001c0001t0004g0078 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.-128-46878A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99698019 | |||||||
| chr3:99698021 | G | A | 4 | a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 others(1): Show |
4 | HG01975.hp2 HG02145.hp1 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.-128-46876G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99698021 | |||||||
| chr3:99698037 | A | G | 4 | a0001c0002t0008g0039 a0001c0002t0008g0040 a0001c0002t0008g0041 others(1): Show |
4 | HG02109.hp1 HG02630.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.-128-46860A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99698037 | |||||||
| chr3:99698185 | A | G | 1 | a0001c0001t0005g0019 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.-128-46712A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99698185 | |||||||
| chr3:99698327 | T | C | 4 | a0001c0002t0008g0039 a0001c0002t0008g0040 a0001c0002t0008g0041 others(1): Show |
4 | HG02109.hp1 HG02630.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.-128-46570T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99698327 | |||||||
| chr3:99698328 | A | T | 1 | a0001c0001t0006g0207 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.-128-46569A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99698328 | |||||||
| chr3:99698348 | G | A | 2 | a0001c0001t0006g0138 a0001c0001t0006g0151 |
2 | HG02559.hp2 HG02895.hp2 |
intron_variant | MODIFIER | c.-128-46549G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99698348 | |||||||
| chr3:99698781 | T | C | 3 | a0001c0001t0003g0258 a0001c0001t0009g0257 a0001c0001t0028g0139 |
3 | HG02257.hp2 HG02723.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.-128-46116T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99698781 | |||||||
| chr3:99698837 | A | C | 3 | a0001c0001t0001g0234 a0001c0001t0003g0050 a0001c0001t0005g0233 |
3 | HG02723.hp1 HG02818.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.-128-46060A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99698837 | |||||||
| chr3:99699083 | T | A | 3 | a0001c0001t0002g0227 a0001c0001t0006g0228 a0001c0001t0006g0229 |
3 | HG01943.hp1 HG01978.hp1 HG02293.hp2 |
intron_variant | MODIFIER | c.-128-45814T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99699083 | |||||||
| chr3:99699493 | C | A | 1 | a0001c0001t0030g0231 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.-128-45404C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99699493 | |||||||
| chr3:99699700 | A | C | 23 | a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0077 others(20): Show |
23 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(20): Show |
intron_variant | MODIFIER | c.-128-45197A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99699700 | |||||||
| chr3:99699728 | A | C | 1 | a0001c0001t0030g0231 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.-128-45169A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99699728 | |||||||
| chr3:99699757 | C | G | 4 | a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 others(1): Show |
4 | HG01975.hp2 HG02145.hp1 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.-128-45140C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99699757 | |||||||
| chr3:99699758 | T | C | 4 | a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 others(1): Show |
4 | HG01975.hp2 HG02145.hp1 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.-128-45139T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99699758 | |||||||
| chr3:99700037 | C | T | 1 | a0001c0001t0003g0032 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.-128-44860C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99700037 | |||||||
| chr3:99700076 | C | T | 1 | a0001c0001t0001g0178 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.-128-44821C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99700076 | |||||||
| chr3:99700106 | A | G | 171 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(168): Show |
174 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(171): Show |
intron_variant | MODIFIER | c.-128-44791A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99700106 | |||||||
| chr3:99700192 | G | A | 2 | a0001c0001t0001g0056 a0001c0001t0001g0085 |
2 | HG01175.hp1 HG01175.hp2 |
intron_variant | MODIFIER | c.-128-44705G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99700192 | |||||||
| chr3:99700224 | C | T | 1 | a0001c0001t0002g0132 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.-128-44673C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99700224 | |||||||
| chr3:99700235 | C | T | 13 | a0001c0001t0001g0004 a0001c0001t0001g0031 a0001c0001t0001g0206 others(10): Show |
14 | HG00735.hp1 HG02027.hp2 HG02083.hp1 others(11): Show |
intron_variant | MODIFIER | c.-128-44662C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99700235 | |||||||
| chr3:99700248 | A | C | 2 | a0001c0001t0003g0212 a0001c0003t0029g0213 |
2 | HG02615.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.-128-44649A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99700248 | |||||||
| chr3:99700303 | GA | G | 6 | a0001c0001t0003g0130 a0001c0001t0004g0070 a0001c0001t0004g0071 others(3): Show |
6 | HG00735.hp2 HG01109.hp1 HG01952.hp2 others(3): Show |
intron_variant | MODIFIER | c.-128-44582delA | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99700303 | ||||||
| chr3:99700322 | G | A | 3 | a0001c0001t0006g0207 a0001c0001t0006g0210 a0001c0001t0006g0211 |
3 | HG00639.hp1 HG02818.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.-128-44575G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99700322 | |||||||
| chr3:99700766 | C | T | 4 | a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 others(1): Show |
4 | HG01975.hp2 HG02145.hp1 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.-128-44131C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99700766 | |||||||
| chr3:99700877 | C | T | 160 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(157): Show |
163 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(160): Show |
intron_variant | MODIFIER | c.-128-44020C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99700877 | |||||||
| chr3:99701009 | G | A | 19 | a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0234 others(16): Show |
19 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(16): Show |
intron_variant | MODIFIER | c.-128-43888G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99701009 | |||||||
| chr3:99701014 | T | A | 209 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 others(206): Show |
213 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(210): Show |
intron_variant | MODIFIER | c.-128-43883T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99701014 | |||||||
| chr3:99701025 | A | G | 29 | a0001c0001t0001g0004 a0001c0001t0001g0031 a0001c0001t0001g0077 others(26): Show |
30 | HG00280.hp1 HG00735.hp1 HG01975.hp2 others(27): Show |
intron_variant | MODIFIER | c.-128-43872A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99701025 | |||||||
| chr3:99701348 | C | T | 52 | a0001c0001t0001g0237 a0001c0001t0002g0154 a0001c0001t0003g0032 others(49): Show |
52 | HG00544.hp2 HG00597.hp1 HG00741.hp2 others(49): Show |
intron_variant | MODIFIER | c.-128-43549C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99701348 | |||||||
| chr3:99701384 | G | A | 1 | a0001c0001t0011g0005 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.-128-43513G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99701384 | |||||||
| chr3:99701444 | G | A | 1 | a0001c0001t0005g0224 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.-128-43453G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99701444 | |||||||
| chr3:99701467 | G | A | 1 | a0001c0001t0003g0084 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.-128-43430G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99701467 | |||||||
| chr3:99701467 | G | C | 1 | a0001c0001t0002g0232 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.-128-43430G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99701467 | |||||||
| chr3:99701740 | A | C | 3 | a0001c0001t0007g0025 a0001c0001t0007g0155 a0001c0001t0007g0220 |
3 | HG01952.hp2 HG02970.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.-128-43157A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99701740 | |||||||
| chr3:99701791 | A | G | 2 | a0001c0001t0001g0218 a0001c0001t0006g0226 |
2 | HG02145.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.-128-43106A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99701791 | |||||||
| chr3:99701809 | G | A | 1 | a0001c0001t0009g0222 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.-128-43088G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99701809 | |||||||
| chr3:99702044 | G | A | 2 | a0001c0001t0003g0149 a0001c0001t0003g0212 |
2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-128-42853G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99702044 | |||||||
| chr3:99702084 | T | C | 1 | a0001c0001t0001g0062 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.-128-42813T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99702084 | |||||||
| chr3:99702476 | A | G | 1 | a0001c0001t0004g0157 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.-128-42421A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99702476 | |||||||
| chr3:99702649 | T | C | 2 | a0001c0001t0004g0157 a0001c0001t0004g0253 |
2 | HG03209.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.-128-42248T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99702649 | |||||||
| chr3:99702739 | G | C | 1 | a0001c0001t0001g0038 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.-128-42158G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99702739 | |||||||
| chr3:99702845 | C | T | 3 | a0001c0001t0006g0138 a0001c0001t0006g0151 a0001c0001t0006g0256 |
3 | HG02559.hp2 HG02895.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.-128-42052C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99702845 | |||||||
| chr3:99703117 | T | G | 1 | a0001c0001t0001g0243 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.-128-41780T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99703117 | |||||||
| chr3:99703236 | A | T | 1 | a0001c0001t0001g0146 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.-128-41661A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99703236 | |||||||
| chr3:99703243 | G | C | 44 | a0001c0001t0001g0031 a0001c0001t0001g0055 a0001c0001t0001g0122 others(41): Show |
44 | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(41): Show |
intron_variant | MODIFIER | c.-128-41654G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99703243 | |||||||
| chr3:99703391 | T | C | 8 | a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0061 others(5): Show |
8 | HG00639.hp2 HG01168.hp1 HG01169.hp1 others(5): Show |
intron_variant | MODIFIER | c.-128-41506T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99703391 | |||||||
| chr3:99703582 | A | T | 1 | a0001c0001t0006g0156 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.-128-41315A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99703582 | |||||||
| chr3:99703607 | A | G | 5 | a0001c0002t0008g0039 a0001c0002t0008g0040 a0001c0002t0008g0041 others(2): Show |
5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-128-41290A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99703607 | |||||||
| chr3:99703639 | C | T | 2 | a0001c0001t0002g0202 a0001c0001t0002g0227 |
2 | HG01943.hp1 HG02148.hp2 |
intron_variant | MODIFIER | c.-128-41258C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99703639 | |||||||
| chr3:99703671 | G | A | 2 | a0001c0001t0004g0157 a0001c0001t0004g0253 |
2 | HG03209.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.-128-41226G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99703671 | |||||||
| chr3:99703699 | A | G | 2 | a0001c0001t0003g0149 a0001c0001t0003g0212 |
2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-128-41198A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99703699 | |||||||
| chr3:99703710 | G | A | 1 | a0001c0001t0002g0010 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.-128-41187G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99703710 | |||||||
| chr3:99703743 | G | A | 102 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(99): Show |
105 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(102): Show |
intron_variant | MODIFIER | c.-128-41154G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99703743 | |||||||
| chr3:99703784 | T | G | 2 | a0001c0001t0001g0209 a0001c0001t0020g0123 |
2 | HG02486.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.-128-41113T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99703784 | |||||||
| chr3:99704118 | G | A | 4 | a0001c0001t0001g0218 a0001c0001t0001g0230 a0001c0001t0004g0157 others(1): Show |
4 | HG02145.hp1 HG03209.hp2 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.-128-40779G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99704118 | |||||||
| chr3:99704206 | G | A | 2 | a0001c0001t0001g0034 a0001c0001t0001g0053 |
2 | HG02922.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.-128-40691G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99704206 | |||||||
| chr3:99704377 | C | T | 1 | a0001c0001t0017g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-128-40520C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99704377 | |||||||
| chr3:99704402 | CT | C | 6 | a0001c0001t0017g0086 a0001c0002t0008g0039 a0001c0002t0008g0040 others(3): Show |
6 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.-128-40486delT | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99704402 | ||||||
| chr3:99704414 | GT | G | 7 | a0001c0001t0002g0010 a0001c0001t0004g0094 a0001c0001t0004g0121 others(4): Show |
7 | HG02109.hp1 HG02630.hp2 HG02683.hp1 others(4): Show |
intron_variant | MODIFIER | c.-128-40473delT | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99704414 | ||||||
| chr3:99704424 | T | A | 9 | a0001c0001t0001g0209 a0001c0001t0006g0046 a0001c0001t0006g0156 others(6): Show |
9 | HG00639.hp1 HG02280.hp1 HG02486.hp1 others(6): Show |
intron_variant | MODIFIER | c.-128-40473T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99704424 | |||||||
| chr3:99704429 | A | T | 191 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(188): Show |
193 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(190): Show |
intron_variant | MODIFIER | c.-128-40468A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99704429 | |||||||
| chr3:99704441 | T | C | 1 | a0001c0001t0001g0097 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.-128-40456T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99704441 | |||||||
| chr3:99705205 | G | A | 1 | a0001c0001t0017g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-128-39692G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99705205 | |||||||
| chr3:99705276 | C | A | 18 | a0001c0001t0002g0154 a0001c0001t0003g0088 a0001c0001t0003g0128 others(15): Show |
18 | HG00741.hp2 HG01257.hp1 HG01258.hp1 others(15): Show |
intron_variant | MODIFIER | c.-128-39621C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99705276 | |||||||
| chr3:99705398 | G | A | 4 | a0001c0001t0005g0059 a0001c0001t0005g0090 a0001c0001t0005g0091 others(1): Show |
4 | HG00741.hp1 HG01256.hp1 HG02738.hp1 others(1): Show |
intron_variant | MODIFIER | c.-128-39499G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99705398 | |||||||
| chr3:99705537 | C | T | 3 | a0001c0001t0003g0149 a0001c0001t0003g0212 a0001c0001t0004g0157 |
3 | HG02615.hp1 HG03209.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.-128-39360C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99705537 | |||||||
| chr3:99706512 | G | A | 15 | a0001c0001t0004g0012 a0001c0001t0004g0070 a0001c0001t0004g0071 others(12): Show |
15 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(12): Show |
intron_variant | MODIFIER | c.-128-38385G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99706512 | |||||||
| chr3:99706654 | G | A | 1 | a0001c0001t0001g0252 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.-128-38243G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99706654 | |||||||
| chr3:99706698 | T | C | 1 | a0001c0001t0002g0148 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.-128-38199T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99706698 | |||||||
| chr3:99706719 | C | A | 1 | a0001c0007t0001g0082 | 1 | NA18943.hp2 | intron_variant | MODIFIER | c.-128-38178C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99706719 | |||||||
| chr3:99706753 | C | T | 8 | a0001c0001t0003g0084 a0001c0001t0004g0208 a0001c0001t0030g0231 others(5): Show |
8 | HG01891.hp2 HG02109.hp1 HG02630.hp2 others(5): Show |
intron_variant | MODIFIER | c.-128-38144C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99706753 | |||||||
| chr3:99706758 | C | G | 1 | a0001c0001t0001g0209 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-128-38139C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99706758 | |||||||
| chr3:99706763 | A | G | 8 | a0001c0001t0003g0084 a0001c0001t0004g0208 a0001c0001t0030g0231 others(5): Show |
8 | HG01891.hp2 HG02109.hp1 HG02630.hp2 others(5): Show |
intron_variant | MODIFIER | c.-128-38134A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99706763 | |||||||
| chr3:99706825 | A | G | 199 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(196): Show |
201 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(198): Show |
intron_variant | MODIFIER | c.-128-38072A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99706825 | |||||||
| chr3:99706923 | A | T | 211 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(208): Show |
213 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(210): Show |
intron_variant | MODIFIER | c.-128-37974A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99706923 | |||||||
| chr3:99707130 | C | T | 1 | a0001c0001t0006g0219 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-128-37767C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99707130 | |||||||
| chr3:99707179 | C | T | 18 | a0001c0001t0003g0149 a0001c0001t0003g0212 a0001c0001t0004g0012 others(15): Show |
18 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(15): Show |
intron_variant | MODIFIER | c.-128-37718C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99707179 | |||||||
| chr3:99707192 | A | G | 1 | a0001c0001t0005g0233 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.-128-37705A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99707192 | |||||||
| chr3:99707366 | C | A | 1 | a0001c0001t0001g0117 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.-128-37531C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99707366 | |||||||
| chr3:99707458 | T | G | 15 | a0001c0001t0004g0012 a0001c0001t0004g0070 a0001c0001t0004g0071 others(12): Show |
15 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(12): Show |
intron_variant | MODIFIER | c.-128-37439T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99707458 | |||||||
| chr3:99707511 | G | A | 1 | a0001c0001t0017g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-128-37386G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99707511 | |||||||
| chr3:99707519 | A | G | 2 | a0001c0001t0001g0209 a0001c0001t0020g0123 |
2 | HG02486.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.-128-37378A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99707519 | |||||||
| chr3:99707659 | C | T | 3 | a0001c0001t0011g0005 a0001c0001t0011g0047 a0001c0001t0011g0205 |
3 | HG02809.hp1 HG03209.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.-128-37238C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99707659 | |||||||
| chr3:99707753 | T | C | 1 | a0001c0001t0007g0255 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.-128-37144T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99707753 | |||||||
| chr3:99707755 | A | T | 2 | a0001c0001t0003g0149 a0001c0001t0003g0212 |
2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-128-37142A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99707755 | |||||||
| chr3:99707953 | G | A | 1 | a0001c0001t0005g0024 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-128-36944G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99707953 | |||||||
| chr3:99708481 | G | T | 2 | a0001c0001t0001g0048 a0001c0001t0001g0051 |
2 | HG01891.hp1 HG02717.hp2 |
intron_variant | MODIFIER | c.-128-36416G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99708481 | |||||||
| chr3:99708533 | GC | G | 18 | a0001c0001t0003g0149 a0001c0001t0003g0212 a0001c0001t0004g0012 others(15): Show |
18 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(15): Show |
intron_variant | MODIFIER | c.-128-36361delC | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99708533 | ||||||
| chr3:99708621 | C | T | 1 | a0001c0001t0004g0157 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.-128-36276C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99708621 | |||||||
| chr3:99708708 | A | G | 191 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(188): Show |
193 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(190): Show |
intron_variant | MODIFIER | c.-128-36189A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99708708 | |||||||
| chr3:99708813 | T | A | 1 | a0001c0001t0009g0222 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.-128-36084T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99708813 | |||||||
| chr3:99708930 | C | T | 173 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(170): Show |
175 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(172): Show |
intron_variant | MODIFIER | c.-128-35967C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99708930 | |||||||
| chr3:99708952 | T | A | 18 | a0001c0001t0003g0149 a0001c0001t0003g0212 a0001c0001t0004g0012 others(15): Show |
18 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(15): Show |
intron_variant | MODIFIER | c.-128-35945T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99708952 | |||||||
| chr3:99709312 | C | T | 173 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(170): Show |
175 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(172): Show |
intron_variant | MODIFIER | c.-128-35585C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99709312 | |||||||
| chr3:99709391 | C | A | 1 | a0001c0001t0005g0058 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.-128-35506C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99709391 | |||||||
| chr3:99709487 | G | A | 1 | a0001c0001t0003g0050 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.-128-35410G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99709487 | |||||||
| chr3:99709496 | T | A | 15 | a0001c0001t0004g0012 a0001c0001t0004g0070 a0001c0001t0004g0071 others(12): Show |
15 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(12): Show |
intron_variant | MODIFIER | c.-128-35401T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99709496 | |||||||
| chr3:99709887 | G | A | 20 | a0001c0001t0001g0209 a0001c0001t0003g0084 a0001c0001t0004g0208 others(17): Show |
20 | HG00639.hp1 HG01891.hp2 HG02109.hp1 others(17): Show |
intron_variant | MODIFIER | c.-128-35010G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99709887 | |||||||
| chr3:99709908 | G | A | 1 | a0001c0001t0002g0177 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.-128-34989G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99709908 | |||||||
| chr3:99709989 | A | T | 1 | a0001c0001t0023g0072 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.-128-34908A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99709989 | |||||||
| chr3:99710062 | C | T | 1 | a0001c0001t0017g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-128-34835C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99710062 | |||||||
| chr3:99710154 | G | A | 93 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(90): Show |
95 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(92): Show |
intron_variant | MODIFIER | c.-128-34743G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99710154 | |||||||
| chr3:99710372 | G | A | 3 | a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0083 |
3 | HG01952.hp1 NA19075.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.-128-34525G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99710372 | |||||||
| chr3:99710828 | G | A | 15 | a0001c0001t0004g0012 a0001c0001t0004g0070 a0001c0001t0004g0071 others(12): Show |
15 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(12): Show |
intron_variant | MODIFIER | c.-128-34069G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99710828 | |||||||
| chr3:99710928 | T | C | 1 | a0001c0001t0001g0234 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.-128-33969T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99710928 | |||||||
| chr3:99711121 | AT | A | 186 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(183): Show |
188 | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(185): Show |
intron_variant | MODIFIER | c.-128-33769delT | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99711121 | ||||||
| chr3:99711373 | C | T | 3 | a0001c0001t0006g0207 a0001c0001t0006g0210 a0001c0001t0006g0211 |
3 | HG00639.hp1 HG02818.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.-128-33524C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99711373 | |||||||
| chr3:99711516 | T | A | 18 | a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0005g0014 others(15): Show |
18 | HG00323.hp1 HG00438.hp2 HG00597.hp2 others(15): Show |
intron_variant | MODIFIER | c.-128-33381T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99711516 | |||||||
| chr3:99712049 | C | A | 15 | a0001c0001t0004g0012 a0001c0001t0004g0070 a0001c0001t0004g0071 others(12): Show |
15 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(12): Show |
intron_variant | MODIFIER | c.-128-32848C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99712049 | |||||||
| chr3:99712141 | C | T | 18 | a0001c0001t0003g0149 a0001c0001t0003g0212 a0001c0001t0004g0012 others(15): Show |
18 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(15): Show |
intron_variant | MODIFIER | c.-128-32756C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99712141 | |||||||
| chr3:99712279 | C | T | 2 | a0001c0001t0001g0209 a0001c0001t0020g0123 |
2 | HG02486.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.-128-32618C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99712279 | |||||||
| chr3:99712305 | G | A | 1 | a0001c0001t0017g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-128-32592G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99712305 | |||||||
| chr3:99712382 | G | T | 1 | a0001c0003t0029g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-128-32515G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99712382 | |||||||
| chr3:99712431 | T | C | 1 | a0001c0001t0006g0226 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-128-32466T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99712431 | |||||||
| chr3:99712454 | C | T | 1 | a0001c0005t0001g0115 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.-128-32443C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99712454 | |||||||
| chr3:99712460 | C | T | 1 | a0001c0001t0003g0152 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.-128-32437C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99712460 | |||||||
| chr3:99712574 | C | T | 49 | a0001c0001t0002g0154 a0001c0001t0003g0032 a0001c0001t0003g0050 others(46): Show |
49 | HG00544.hp2 HG00597.hp1 HG00741.hp2 others(46): Show |
intron_variant | MODIFIER | c.-128-32323C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99712574 | |||||||
| chr3:99712713 | C | G | 1 | a0001c0001t0002g0127 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.-128-32184C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99712713 | |||||||
| chr3:99712836 | C | T | 1 | a0001c0003t0029g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-128-32061C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99712836 | |||||||
| chr3:99713073 | T | A | 12 | a0001c0001t0001g0209 a0001c0001t0006g0046 a0001c0001t0006g0138 others(9): Show |
12 | HG00639.hp1 HG02280.hp1 HG02486.hp1 others(9): Show |
intron_variant | MODIFIER | c.-128-31824T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99713073 | |||||||
| chr3:99713182 | A | C | 18 | a0001c0001t0003g0149 a0001c0001t0003g0212 a0001c0001t0004g0012 others(15): Show |
18 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(15): Show |
intron_variant | MODIFIER | c.-128-31715A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99713182 | |||||||
| chr3:99713330 | C | T | 15 | a0001c0001t0001g0209 a0001c0001t0003g0084 a0001c0001t0004g0208 others(12): Show |
15 | HG00639.hp1 HG01891.hp2 HG02280.hp1 others(12): Show |
intron_variant | MODIFIER | c.-128-31567C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99713330 | |||||||
| chr3:99713576 | C | T | 15 | a0001c0001t0001g0209 a0001c0001t0003g0084 a0001c0001t0004g0208 others(12): Show |
15 | HG00639.hp1 HG01891.hp2 HG02280.hp1 others(12): Show |
intron_variant | MODIFIER | c.-128-31321C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99713576 | |||||||
| chr3:99713577 | G | A | 1 | a0001c0003t0029g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-128-31320G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99713577 | |||||||
| chr3:99713698 | G | A | 1 | a0001c0003t0029g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-128-31199G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99713698 | |||||||
| chr3:99713785 | GA | G | 122 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(119): Show |
124 | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(121): Show |
intron_variant | MODIFIER | c.-128-31102delA | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99713785 | ||||||
| chr3:99713866 | G | A | 18 | a0001c0001t0003g0149 a0001c0001t0003g0212 a0001c0001t0004g0012 others(15): Show |
18 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(15): Show |
intron_variant | MODIFIER | c.-128-31031G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99713866 | |||||||
| chr3:99714088 | T | A | 15 | a0001c0001t0004g0012 a0001c0001t0004g0070 a0001c0001t0004g0071 others(12): Show |
15 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(12): Show |
intron_variant | MODIFIER | c.-128-30809T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99714088 | |||||||
| chr3:99714384 | TC | T | 15 | a0001c0001t0004g0012 a0001c0001t0004g0070 a0001c0001t0004g0071 others(12): Show |
15 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(12): Show |
intron_variant | MODIFIER | c.-128-30512delC | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99714384 | |||||||
| chr3:99714416 | T | C | 1 | a0001c0001t0001g0175 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-128-30481T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99714416 | |||||||
| chr3:99714937 | G | T | 15 | a0001c0001t0004g0012 a0001c0001t0004g0070 a0001c0001t0004g0071 others(12): Show |
15 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(12): Show |
intron_variant | MODIFIER | c.-128-29960G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99714937 | |||||||
| chr3:99715096 | T | A | 3 | a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0018g0182 |
3 | HG00323.hp1 HG01081.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.-128-29801T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99715096 | |||||||
| chr3:99715121 | A | G | 1 | a0001c0001t0006g0151 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.-128-29776A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99715121 | |||||||
| chr3:99715127 | C | G | 1 | a0001c0001t0015g0179 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.-128-29770C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99715127 | |||||||
| chr3:99715322 | A | G | 192 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(189): Show |
194 | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(191): Show |
intron_variant | MODIFIER | c.-128-29575A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99715322 | |||||||
| chr3:99715369 | C | A | 1 | a0001c0001t0003g0149 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.-128-29528C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99715369 | |||||||
| chr3:99715392 | A | T | 18 | a0001c0001t0003g0149 a0001c0001t0003g0212 a0001c0001t0004g0012 others(15): Show |
18 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(15): Show |
intron_variant | MODIFIER | c.-128-29505A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99715392 | |||||||
| chr3:99715445 | C | T | 2 | a0001c0001t0001g0216 a0001c0001t0001g0217 |
2 | HG01975.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.-128-29452C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99715445 | |||||||
| chr3:99715568 | G | A | 3 | a0001c0001t0010g0141 a0001c0001t0010g0142 a0001c0001t0010g0159 |
3 | HG01074.hp2 HG03927.hp1 HG04115.hp2 |
intron_variant | MODIFIER | c.-128-29329G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99715568 | |||||||
| chr3:99715815 | T | C | 12 | a0001c0001t0001g0209 a0001c0001t0006g0046 a0001c0001t0006g0138 others(9): Show |
12 | HG00639.hp1 HG02280.hp1 HG02486.hp1 others(9): Show |
intron_variant | MODIFIER | c.-128-29082T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99715815 | |||||||
| chr3:99715846 | G | A | 1 | a0001c0001t0003g0152 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.-128-29051G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99715846 | |||||||
| chr3:99715882 | G | T | 2 | a0001c0001t0004g0157 a0001c0001t0004g0253 |
2 | HG03209.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.-128-29015G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99715882 | |||||||
| chr3:99715961 | C | T | 1 | a0001c0001t0006g0156 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.-128-28936C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99715961 | |||||||
| chr3:99716022 | T | C | 1 | a0001c0001t0006g0156 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.-128-28875T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99716022 | |||||||
| chr3:99716238 | C | T | 1 | a0001c0001t0001g0111 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.-128-28659C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99716238 | |||||||
| chr3:99716258 | T | C | 33 | a0001c0001t0001g0209 a0001c0001t0003g0084 a0001c0001t0003g0149 others(30): Show |
33 | HG00438.hp1 HG00639.hp1 HG00735.hp2 others(30): Show |
intron_variant | MODIFIER | c.-128-28639T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99716258 | |||||||
| chr3:99716330 | C | G | 33 | a0001c0001t0001g0209 a0001c0001t0003g0084 a0001c0001t0003g0149 others(30): Show |
33 | HG00438.hp1 HG00639.hp1 HG00735.hp2 others(30): Show |
intron_variant | MODIFIER | c.-128-28567C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99716330 | |||||||
| chr3:99716519 | A | G | 8 | a0001c0001t0002g0026 a0001c0001t0002g0135 a0001c0001t0002g0167 others(5): Show |
8 | HG00323.hp2 HG01192.hp1 HG01361.hp2 others(5): Show |
intron_variant | MODIFIER | c.-128-28378A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99716519 | |||||||
| chr3:99716555 | A | G | 1 | a0001c0001t0005g0140 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.-128-28342A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99716555 | |||||||
| chr3:99716869 | A | G | 1 | a0001c0001t0011g0205 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.-128-28028A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99716869 | |||||||
| chr3:99717140 | G | A | 1 | a0001c0001t0001g0097 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.-128-27757G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99717140 | |||||||
| chr3:99717385 | G | A | 3 | a0001c0001t0003g0084 a0001c0001t0004g0208 a0001c0001t0030g0231 |
3 | HG01891.hp2 HG02895.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.-128-27512G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99717385 | |||||||
| chr3:99717474 | T | C | 1 | a0001c0001t0001g0225 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.-128-27423T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99717474 | |||||||
| chr3:99717580 | C | T | 192 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(189): Show |
194 | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(191): Show |
intron_variant | MODIFIER | c.-128-27317C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99717580 | |||||||
| chr3:99717613 | C | T | 3 | a0001c0001t0001g0100 a0001c0001t0001g0116 a0001c0005t0001g0115 |
3 | HG02148.hp1 NA18964.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.-128-27284C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99717613 | |||||||
| chr3:99717619 | G | A | 1 | a0001c0001t0006g0046 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.-128-27278G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99717619 | |||||||
| chr3:99717703 | T | C | 1 | a0001c0001t0003g0133 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.-128-27194T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99717703 | |||||||
| chr3:99717718 | T | G | 2 | a0001c0001t0003g0032 a0001c0001t0003g0150 |
2 | HG02896.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.-128-27179T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99717718 | |||||||
| chr3:99717726 | T | C | 3 | a0001c0001t0003g0084 a0001c0001t0004g0208 a0001c0001t0030g0231 |
3 | HG01891.hp2 HG02895.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.-128-27171T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99717726 | |||||||
| chr3:99717991 | C | T | 104 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(101): Show |
106 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(103): Show |
intron_variant | MODIFIER | c.-128-26906C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99717991 | |||||||
| chr3:99718159 | G | C | 2 | a0001c0001t0003g0149 a0001c0001t0003g0212 |
2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-128-26738G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99718159 | |||||||
| chr3:99718343 | G | C | 1 | a0001c0001t0001g0209 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-128-26554G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99718343 | |||||||
| chr3:99718472 | T | C | 1 | a0001c0001t0001g0218 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.-128-26425T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99718472 | |||||||
| chr3:99718521 | G | C | 1 | a0001c0001t0007g0025 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.-128-26376G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99718521 | |||||||
| chr3:99718701 | C | G | 1 | a0001c0001t0001g0035 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.-128-26196C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99718701 | |||||||
| chr3:99718792 | G | A | 5 | a0001c0002t0008g0039 a0001c0002t0008g0040 a0001c0002t0008g0041 others(2): Show |
5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-128-26105G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99718792 | |||||||
| chr3:99718904 | C | T | 1 | a0001c0001t0005g0014 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.-128-25993C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99718904 | |||||||
| chr3:99719054 | C | T | 3 | a0001c0001t0011g0005 a0001c0001t0011g0047 a0001c0001t0011g0205 |
3 | HG02809.hp1 HG03209.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.-128-25843C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99719054 | |||||||
| chr3:99719415 | C | A | 1 | a0001c0003t0029g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-128-25482C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99719415 | |||||||
| chr3:99719471 | G | A | 15 | a0001c0001t0001g0209 a0001c0001t0003g0084 a0001c0001t0004g0208 others(12): Show |
15 | HG00639.hp1 HG01891.hp2 HG02280.hp1 others(12): Show |
intron_variant | MODIFIER | c.-128-25426G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99719471 | |||||||
| chr3:99719786 | T | C | 3 | a0001c0001t0002g0001 a0001c0001t0002g0057 a0001c0001t0002g0064 |
4 | HG00738.hp1 HG01069.hp2 HG01071.hp1 others(1): Show |
intron_variant | MODIFIER | c.-128-25111T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99719786 | |||||||
| chr3:99719976 | A | T | 1 | a0001c0001t0017g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-128-24921A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99719976 | |||||||
| chr3:99720061 | G | A | 16 | a0001c0001t0001g0004 a0001c0001t0001g0077 a0001c0001t0001g0095 others(13): Show |
17 | HG00280.hp1 HG02027.hp2 HG02071.hp2 others(14): Show |
intron_variant | MODIFIER | c.-128-24836G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99720061 | |||||||
| chr3:99720075 | C | T | 1 | a0001c0003t0029g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-128-24822C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99720075 | |||||||
| chr3:99720546 | A | C | 2 | a0001c0001t0004g0073 a0001c0001t0004g0074 |
2 | HG00735.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.-128-24351A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99720546 | |||||||
| chr3:99720625 | T | C | 3 | a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0025g0017 |
3 | NA18959.hp1 NA18981.hp2 NA19066.hp2 |
intron_variant | MODIFIER | c.-128-24272T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99720625 | |||||||
| chr3:99720801 | T | C | 1 | a0001c0001t0002g0232 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.-128-24096T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99720801 | |||||||
| chr3:99721046 | G | C | 3 | a0001c0001t0001g0009 a0001c0001t0001g0109 a0001c0001t0012g0003 |
4 | HG01109.hp2 HG01516.hp2 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.-128-23851G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99721046 | |||||||
| chr3:99721292 | G | A | 1 | a0001c0001t0006g0219 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-128-23605G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99721292 | |||||||
| chr3:99721369 | C | CA | 163 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(160): Show |
165 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(162): Show |
intron_variant | MODIFIER | c.-128-23513dupA | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99721369 | ||||||
| chr3:99721369 | C | CAA | 26 | a0001c0001t0001g0004 a0001c0001t0001g0023 a0001c0001t0001g0033 others(23): Show |
27 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(24): Show |
intron_variant | MODIFIER | c.-128-23514_-128-23 others(8): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99721369 | ||||||
| chr3:99721399 | A | G | 15 | a0001c0001t0004g0012 a0001c0001t0004g0070 a0001c0001t0004g0071 others(12): Show |
15 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(12): Show |
intron_variant | MODIFIER | c.-128-23498A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99721399 | |||||||
| chr3:99721430 | AAAGGGG | A | 148 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(145): Show |
150 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(147): Show |
intron_variant | MODIFIER | c.-128-23449_-128-23 others(12): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99721430 | ||||||
| chr3:99721436 | G | A | 1 | a0001c0001t0003g0203 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.-128-23461G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99721436 | |||||||
| chr3:99721498 | A | G | 15 | a0001c0001t0004g0012 a0001c0001t0004g0070 a0001c0001t0004g0071 others(12): Show |
15 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(12): Show |
intron_variant | MODIFIER | c.-128-23399A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99721498 | |||||||
| chr3:99721554 | A | G | 1 | a0001c0001t0002g0168 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.-128-23343A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99721554 | |||||||
| chr3:99721592 | A | C | 1 | a0001c0001t0003g0203 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.-128-23305A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99721592 | |||||||
| chr3:99721593 | G | A | 1 | a0001c0001t0003g0203 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.-128-23304G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99721593 | |||||||
| chr3:99721594 | A | G | 1 | a0001c0001t0003g0203 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.-128-23303A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99721594 | |||||||
| chr3:99721712 | C | A | 3 | a0001c0001t0006g0138 a0001c0001t0006g0151 a0001c0001t0006g0256 |
3 | HG02559.hp2 HG02895.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.-128-23185C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99721712 | |||||||
| chr3:99721881 | G | T | 1 | a0001c0001t0001g0244 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.-128-23016G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99721881 | |||||||
| chr3:99721883 | GT | G | 15 | a0001c0001t0001g0209 a0001c0001t0003g0084 a0001c0001t0004g0208 others(12): Show |
15 | HG00639.hp1 HG01891.hp2 HG02280.hp1 others(12): Show |
intron_variant | MODIFIER | c.-128-23003delT | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99721883 | ||||||
| chr3:99721937 | C | T | 64 | a0001c0001t0002g0154 a0001c0001t0003g0032 a0001c0001t0003g0050 others(61): Show |
64 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(61): Show |
intron_variant | MODIFIER | c.-128-22960C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99721937 | |||||||
| chr3:99721948 | G | T | 1 | a0001c0001t0003g0032 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.-128-22949G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99721948 | |||||||
| chr3:99721987 | T | C | 4 | a0001c0001t0001g0209 a0001c0001t0006g0156 a0001c0001t0019g0037 others(1): Show |
4 | HG02280.hp1 HG02486.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.-128-22910T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99721987 | |||||||
| chr3:99722074 | C | T | 1 | a0001c0001t0001g0144 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.-128-22823C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99722074 | |||||||
| chr3:99722181 | A | G | 1 | a0001c0001t0002g0170 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.-128-22716A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99722181 | |||||||
| chr3:99722197 | C | T | 15 | a0001c0001t0001g0209 a0001c0001t0003g0084 a0001c0001t0004g0208 others(12): Show |
15 | HG00639.hp1 HG01891.hp2 HG02280.hp1 others(12): Show |
intron_variant | MODIFIER | c.-128-22700C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99722197 | |||||||
| chr3:99722397 | G | A | 98 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(95): Show |
100 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(97): Show |
intron_variant | MODIFIER | c.-128-22500G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99722397 | |||||||
| chr3:99722501 | G | A | 82 | a0001c0001t0001g0209 a0001c0001t0002g0154 a0001c0001t0003g0032 others(79): Show |
82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-22396G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99722501 | |||||||
| chr3:99722629 | A | G | 1 | a0001c0001t0001g0035 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.-128-22268A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99722629 | |||||||
| chr3:99722657 | C | A | 1 | a0001c0001t0003g0203 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.-128-22240C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99722657 | |||||||
| chr3:99722805 | G | A | 64 | a0001c0001t0002g0154 a0001c0001t0003g0032 a0001c0001t0003g0050 others(61): Show |
64 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(61): Show |
intron_variant | MODIFIER | c.-128-22092G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99722805 | |||||||
| chr3:99722836 | A | G | 19 | a0001c0001t0001g0147 a0001c0001t0001g0162 a0001c0001t0001g0165 others(16): Show |
19 | HG00323.hp2 HG01192.hp1 HG01361.hp2 others(16): Show |
intron_variant | MODIFIER | c.-128-22061A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99722836 | |||||||
| chr3:99722862 | C | T | 1 | a0001c0003t0029g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-128-22035C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99722862 | |||||||
| chr3:99722938 | G | T | 12 | a0001c0001t0001g0209 a0001c0001t0006g0046 a0001c0001t0006g0138 others(9): Show |
12 | HG00639.hp1 HG02280.hp1 HG02486.hp1 others(9): Show |
intron_variant | MODIFIER | c.-128-21959G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99722938 | |||||||
| chr3:99722956 | A | C | 1 | a0001c0001t0005g0224 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.-128-21941A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99722956 | |||||||
| chr3:99722966 | G | A | 12 | a0001c0001t0001g0209 a0001c0001t0006g0046 a0001c0001t0006g0138 others(9): Show |
12 | HG00639.hp1 HG02280.hp1 HG02486.hp1 others(9): Show |
intron_variant | MODIFIER | c.-128-21931G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99722966 | |||||||
| chr3:99723003 | T | TTG | 27 | a0001c0001t0001g0031 a0001c0001t0001g0055 a0001c0001t0001g0122 others(24): Show |
27 | HG00438.hp1 HG00735.hp1 HG01074.hp2 others(24): Show |
intron_variant | MODIFIER | c.-128-21864_-128-21 others(8): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99723003 | ||||||
| chr3:99723003 | T | TTGTG | 90 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(87): Show |
92 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(89): Show |
intron_variant | MODIFIER | c.-128-21866_-128-21 others(10): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99723003 | ||||||
| chr3:99723003 | T | TTGTGTG | 13 | a0001c0001t0001g0022 a0001c0001t0001g0244 a0001c0001t0003g0084 others(10): Show |
13 | HG00558.hp2 HG02109.hp1 HG02630.hp2 others(10): Show |
intron_variant | MODIFIER | c.-128-21868_-128-21 others(12): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99723003 | ||||||
| chr3:99723003 | T | TTGTGTGT others(1): Show |
5 | a0001c0001t0006g0207 a0001c0001t0006g0210 a0001c0001t0006g0211 others(2): Show |
5 | HG00639.hp1 HG02818.hp1 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.-128-21870_-128-21 others(14): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99723003 | ||||||
| chr3:99723003 | T | TTGTGTGT others(3): Show |
3 | a0001c0001t0001g0209 a0001c0001t0004g0208 a0001c0001t0020g0123 |
3 | HG02486.hp1 HG02895.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.-128-21872_-128-21 others(16): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99723003 | ||||||
| chr3:99723003 | T | TTGTGTGT others(5): Show |
3 | a0001c0001t0006g0138 a0001c0001t0006g0151 a0001c0001t0006g0256 |
3 | HG02559.hp2 HG02895.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.-128-21874_-128-21 others(18): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99723003 | ||||||
| chr3:99723003 | TTG | T | 48 | a0001c0001t0003g0032 a0001c0001t0003g0050 a0001c0001t0003g0088 others(45): Show |
48 | HG00544.hp2 HG00597.hp1 HG01257.hp1 others(45): Show |
intron_variant | MODIFIER | c.-128-21864_-128-21 others(8): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99723003 | ||||||
| chr3:99723125 | A | G | 1 | a0001c0001t0017g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-128-21772A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99723125 | |||||||
| chr3:99723318 | C | T | 1 | a0001c0001t0017g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-128-21579C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99723318 | |||||||
| chr3:99723371 | G | A | 1 | a0001c0001t0006g0156 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.-128-21526G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99723371 | |||||||
| chr3:99723448 | C | T | 1 | a0001c0001t0006g0221 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.-128-21449C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99723448 | |||||||
| chr3:99723575 | G | C | 1 | a0001c0001t0002g0232 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.-128-21322G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99723575 | |||||||
| chr3:99723646 | A | T | 1 | a0001c0001t0003g0203 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.-128-21251A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99723646 | |||||||
| chr3:99723647 | T | A | 1 | a0001c0001t0003g0203 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.-128-21250T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99723647 | |||||||
| chr3:99723823 | C | T | 6 | a0001c0001t0001g0031 a0001c0001t0001g0055 a0001c0001t0001g0122 others(3): Show |
6 | HG00735.hp1 HG01516.hp1 HG01975.hp2 others(3): Show |
intron_variant | MODIFIER | c.-128-21074C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99723823 | |||||||
| chr3:99723901 | A | G | 67 | a0001c0001t0002g0154 a0001c0001t0003g0032 a0001c0001t0003g0050 others(64): Show |
67 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(64): Show |
intron_variant | MODIFIER | c.-128-20996A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99723901 | |||||||
| chr3:99723909 | T | C | 210 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(207): Show |
212 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(209): Show |
intron_variant | MODIFIER | c.-128-20988T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99723909 | |||||||
| chr3:99723936 | C | T | 49 | a0001c0001t0002g0154 a0001c0001t0003g0032 a0001c0001t0003g0050 others(46): Show |
49 | HG00544.hp2 HG00597.hp1 HG00741.hp2 others(46): Show |
intron_variant | MODIFIER | c.-128-20961C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99723936 | |||||||
| chr3:99723965 | C | T | 103 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(100): Show |
105 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(102): Show |
intron_variant | MODIFIER | c.-128-20932C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99723965 | |||||||
| chr3:99724063 | T | G | 1 | a0001c0001t0001g0095 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.-128-20834T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99724063 | |||||||
| chr3:99724106 | C | T | 192 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(189): Show |
194 | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(191): Show |
intron_variant | MODIFIER | c.-128-20791C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99724106 | |||||||
| chr3:99724259 | A | G | 1 | a0001c0003t0029g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-128-20638A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99724259 | |||||||
| chr3:99724345 | A | G | 1 | a0001c0003t0029g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-128-20552A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99724345 | |||||||
| chr3:99724631 | A | G | 2 | a0001c0001t0013g0020 a0001c0001t0013g0021 |
2 | HG02886.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.-128-20266A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99724631 | |||||||
| chr3:99725073 | A | G | 1 | a0001c0001t0002g0163 | 1 | NA18973.hp2 | intron_variant | MODIFIER | c.-128-19824A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99725073 | |||||||
| chr3:99725120 | A | G | 16 | a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 others(13): Show |
16 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(13): Show |
intron_variant | MODIFIER | c.-128-19777A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99725120 | |||||||
| chr3:99725244 | C | T | 1 | a0001c0003t0029g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-128-19653C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99725244 | |||||||
| chr3:99725246 | G | C | 1 | a0001c0001t0002g0136 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.-128-19651G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99725246 | |||||||
| chr3:99725283 | G | A | 67 | a0001c0001t0002g0154 a0001c0001t0003g0032 a0001c0001t0003g0050 others(64): Show |
67 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(64): Show |
intron_variant | MODIFIER | c.-128-19614G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99725283 | |||||||
| chr3:99725353 | A | T | 1 | a0001c0001t0002g0007 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.-128-19544A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99725353 | |||||||
| chr3:99725416 | T | A | 5 | a0001c0002t0008g0039 a0001c0002t0008g0040 a0001c0002t0008g0041 others(2): Show |
5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-128-19481T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99725416 | |||||||
| chr3:99725432 | T | C | 12 | a0001c0001t0001g0209 a0001c0001t0006g0046 a0001c0001t0006g0138 others(9): Show |
12 | HG00639.hp1 HG02280.hp1 HG02486.hp1 others(9): Show |
intron_variant | MODIFIER | c.-128-19465T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99725432 | |||||||
| chr3:99725570 | C | T | 1 | a0001c0001t0006g0226 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-128-19327C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99725570 | |||||||
| chr3:99725577 | T | C | 82 | a0001c0001t0001g0209 a0001c0001t0002g0154 a0001c0001t0003g0032 others(79): Show |
82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-19320T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99725577 | |||||||
| chr3:99725686 | T | C | 1 | a0001c0001t0017g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-128-19211T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99725686 | |||||||
| chr3:99725860 | T | A | 2 | a0001c0001t0003g0149 a0001c0001t0003g0212 |
2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-128-19037T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99725860 | |||||||
| chr3:99725948 | T | A | 1 | a0001c0001t0001g0117 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.-128-18949T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99725948 | |||||||
| chr3:99726132 | T | A | 4 | a0001c0001t0006g0207 a0001c0001t0006g0210 a0001c0001t0006g0211 others(1): Show |
4 | HG00639.hp1 HG02818.hp1 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.-128-18765T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99726132 | |||||||
| chr3:99726324 | T | A | 1 | a0001c0001t0001g0107 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.-128-18573T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99726324 | |||||||
| chr3:99726547 | C | G | 1 | a0001c0001t0001g0124 | 1 | NA19064.hp1 | intron_variant | MODIFIER | c.-128-18350C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99726547 | |||||||
| chr3:99726566 | T | G | 1 | a0001c0001t0012g0003 | 2 | HG01516.hp2 HG01517.hp1 |
intron_variant | MODIFIER | c.-128-18331T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99726566 | |||||||
| chr3:99726614 | T | A | 1 | a0001c0001t0001g0101 | 1 | NA18973.hp1 | intron_variant | MODIFIER | c.-128-18283T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99726614 | |||||||
| chr3:99726625 | C | G | 2 | a0001c0001t0003g0149 a0001c0001t0003g0212 |
2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-128-18272C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99726625 | |||||||
| chr3:99726729 | C | T | 5 | a0001c0002t0008g0039 a0001c0002t0008g0040 a0001c0002t0008g0041 others(2): Show |
5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-128-18168C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99726729 | |||||||
| chr3:99726730 | G | A | 82 | a0001c0001t0001g0209 a0001c0001t0002g0154 a0001c0001t0003g0032 others(79): Show |
82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-18167G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99726730 | |||||||
| chr3:99726733 | G | A | 82 | a0001c0001t0001g0209 a0001c0001t0002g0154 a0001c0001t0003g0032 others(79): Show |
82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-18164G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99726733 | |||||||
| chr3:99726770 | T | C | 58 | a0001c0001t0002g0154 a0001c0001t0003g0032 a0001c0001t0003g0088 others(55): Show |
58 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(55): Show |
intron_variant | MODIFIER | c.-128-18127T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99726770 | |||||||
| chr3:99726785 | A | C | 1 | a0001c0001t0002g0057 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.-128-18112A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99726785 | |||||||
| chr3:99726817 | T | C | 1 | a0001c0003t0029g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-128-18080T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99726817 | |||||||
| chr3:99726887 | C | T | 1 | a0001c0003t0029g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-128-18010C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99726887 | |||||||
| chr3:99726893 | G | A | 1 | a0001c0001t0003g0084 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.-128-18004G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99726893 | |||||||
| chr3:99726905 | G | A | 64 | a0001c0001t0002g0154 a0001c0001t0003g0032 a0001c0001t0003g0050 others(61): Show |
64 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(61): Show |
intron_variant | MODIFIER | c.-128-17992G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99726905 | |||||||
| chr3:99727018 | CATG | C | 103 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(100): Show |
105 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(102): Show |
intron_variant | MODIFIER | c.-128-17876_-128-17 others(9): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99727018 | ||||||
| chr3:99727087 | A | C | 82 | a0001c0001t0001g0209 a0001c0001t0002g0154 a0001c0001t0003g0032 others(79): Show |
82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-17810A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99727087 | |||||||
| chr3:99727446 | G | C | 93 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(90): Show |
95 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(92): Show |
intron_variant | MODIFIER | c.-128-17451G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99727446 | |||||||
| chr3:99727488 | T | A | 1 | a0002c0006t0001g0087 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.-128-17409T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99727488 | |||||||
| chr3:99727759 | C | T | 2 | a0001c0001t0005g0171 a0001c0001t0025g0017 |
2 | HG00438.hp2 NA18981.hp2 |
intron_variant | MODIFIER | c.-128-17138C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99727759 | |||||||
| chr3:99727777 | C | A | 82 | a0001c0001t0001g0209 a0001c0001t0002g0154 a0001c0001t0003g0032 others(79): Show |
82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-17120C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99727777 | |||||||
| chr3:99727783 | C | A | 1 | a0001c0001t0003g0186 | 1 | NA18980.hp1 | intron_variant | MODIFIER | c.-128-17114C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99727783 | |||||||
| chr3:99727943 | C | T | 2 | a0001c0002t0008g0040 a0001c0002t0008g0042 |
2 | HG02630.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.-128-16954C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99727943 | |||||||
| chr3:99727985 | C | T | 2 | a0001c0001t0004g0157 a0001c0001t0004g0253 |
2 | HG03209.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.-128-16912C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99727985 | |||||||
| chr3:99727986 | A | G | 183 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(180): Show |
185 | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(182): Show |
intron_variant | MODIFIER | c.-128-16911A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99727986 | |||||||
| chr3:99728030 | A | G | 15 | a0001c0001t0001g0209 a0001c0001t0003g0084 a0001c0001t0004g0208 others(12): Show |
15 | HG00639.hp1 HG01891.hp2 HG02280.hp1 others(12): Show |
intron_variant | MODIFIER | c.-128-16867A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99728030 | |||||||
| chr3:99728032 | G | A | 82 | a0001c0001t0001g0209 a0001c0001t0002g0154 a0001c0001t0003g0032 others(79): Show |
82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-16865G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99728032 | |||||||
| chr3:99728093 | A | G | 3 | a0001c0001t0003g0084 a0001c0001t0004g0208 a0001c0001t0030g0231 |
3 | HG01891.hp2 HG02895.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.-128-16804A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99728093 | |||||||
| chr3:99728122 | G | C | 1 | a0001c0001t0004g0070 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.-128-16775G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99728122 | |||||||
| chr3:99728217 | T | A | 1 | a0001c0001t0002g0164 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.-128-16680T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99728217 | |||||||
| chr3:99728492 | A | T | 6 | a0001c0001t0001g0031 a0001c0001t0001g0055 a0001c0001t0001g0122 others(3): Show |
6 | HG00735.hp1 HG01516.hp1 HG01975.hp2 others(3): Show |
intron_variant | MODIFIER | c.-128-16405A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99728492 | |||||||
| chr3:99728613 | G | A | 82 | a0001c0001t0001g0209 a0001c0001t0002g0154 a0001c0001t0003g0032 others(79): Show |
82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-16284G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99728613 | |||||||
| chr3:99728709 | TTGTA | T | 3 | a0001c0001t0003g0084 a0001c0001t0004g0208 a0001c0001t0030g0231 |
3 | HG01891.hp2 HG02895.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.-128-16185_-128-16 others(10): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99728709 | ||||||
| chr3:99728837 | T | C | 2 | a0001c0001t0013g0020 a0001c0001t0013g0021 |
2 | HG02886.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.-128-16060T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99728837 | |||||||
| chr3:99728859 | T | C | 1 | a0001c0001t0003g0128 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.-128-16038T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99728859 | |||||||
| chr3:99728928 | T | G | 15 | a0001c0001t0004g0012 a0001c0001t0004g0070 a0001c0001t0004g0071 others(12): Show |
15 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(12): Show |
intron_variant | MODIFIER | c.-128-15969T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99728928 | |||||||
| chr3:99729092 | T | C | 1 | a0001c0001t0002g0134 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.-128-15805T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99729092 | |||||||
| chr3:99729113 | T | C | 5 | a0001c0002t0008g0039 a0001c0002t0008g0040 a0001c0002t0008g0041 others(2): Show |
5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-128-15784T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99729113 | |||||||
| chr3:99729259 | T | A | 82 | a0001c0001t0001g0209 a0001c0001t0002g0154 a0001c0001t0003g0032 others(79): Show |
82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-15638T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99729259 | |||||||
| chr3:99729264 | T | C | 5 | a0001c0002t0008g0039 a0001c0002t0008g0040 a0001c0002t0008g0041 others(2): Show |
5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-128-15633T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99729264 | |||||||
| chr3:99729468 | T | A | 1 | a0001c0001t0003g0150 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.-128-15429T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99729468 | |||||||
| chr3:99729492 | G | A | 64 | a0001c0001t0002g0154 a0001c0001t0003g0032 a0001c0001t0003g0050 others(61): Show |
64 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(61): Show |
intron_variant | MODIFIER | c.-128-15405G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99729492 | |||||||
| chr3:99729508 | T | C | 1 | a0001c0003t0029g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-128-15389T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99729508 | |||||||
| chr3:99729623 | A | G | 1 | a0001c0001t0006g0156 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.-128-15274A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99729623 | |||||||
| chr3:99729934 | C | T | 4 | a0001c0001t0001g0038 a0001c0001t0001g0103 a0001c0001t0001g0104 others(1): Show |
4 | HG00280.hp2 HG01071.hp2 HG01081.hp2 others(1): Show |
intron_variant | MODIFIER | c.-128-14963C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99729934 | |||||||
| chr3:99730008 | A | G | 93 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(90): Show |
95 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(92): Show |
intron_variant | MODIFIER | c.-128-14889A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99730008 | |||||||
| chr3:99730062 | A | T | 3 | a0001c0001t0006g0138 a0001c0001t0006g0151 a0001c0001t0006g0256 |
3 | HG02559.hp2 HG02895.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.-128-14835A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99730062 | |||||||
| chr3:99730071 | G | T | 1 | a0001c0001t0006g0207 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.-128-14826G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99730071 | |||||||
| chr3:99730281 | C | T | 1 | a0001c0001t0001g0008 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.-128-14616C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99730281 | |||||||
| chr3:99730412 | C | T | 5 | a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0230 others(2): Show |
5 | HG02145.hp1 HG03041.hp1 HG03209.hp2 others(2): Show |
intron_variant | MODIFIER | c.-128-14485C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99730412 | |||||||
| chr3:99730423 | A | G | 2 | a0001c0001t0003g0149 a0001c0001t0003g0212 |
2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-128-14474A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99730423 | |||||||
| chr3:99730442 | G | A | 1 | a0001c0001t0001g0178 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.-128-14455G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99730442 | |||||||
| chr3:99730482 | G | C | 1 | a0001c0003t0029g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-128-14415G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99730482 | |||||||
| chr3:99730553 | C | T | 1 | a0001c0003t0029g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-128-14344C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99730553 | |||||||
| chr3:99730599 | C | G | 6 | a0001c0001t0001g0031 a0001c0001t0001g0055 a0001c0001t0001g0122 others(3): Show |
6 | HG00735.hp1 HG01516.hp1 HG01975.hp2 others(3): Show |
intron_variant | MODIFIER | c.-128-14298C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99730599 | |||||||
| chr3:99730783 | G | A | 1 | a0001c0001t0005g0140 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.-128-14114G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99730783 | |||||||
| chr3:99730905 | C | T | 11 | a0001c0001t0001g0006 a0001c0001t0001g0043 a0001c0001t0001g0048 others(8): Show |
11 | HG01891.hp1 HG02055.hp1 HG02109.hp2 others(8): Show |
intron_variant | MODIFIER | c.-128-13992C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99730905 | |||||||
| chr3:99730944 | T | A | 1 | a0001c0001t0004g0214 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.-128-13953T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99730944 | |||||||
| chr3:99730952 | C | G | 1 | a0001c0001t0001g0054 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.-128-13945C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99730952 | |||||||
| chr3:99731075 | G | A | 1 | a0001c0003t0029g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-128-13822G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99731075 | |||||||
| chr3:99731133 | G | A | 1 | a0001c0001t0001g0162 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.-128-13764G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99731133 | |||||||
| chr3:99731343 | G | C | 103 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(100): Show |
105 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(102): Show |
intron_variant | MODIFIER | c.-128-13554G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99731343 | |||||||
| chr3:99731591 | C | A | 1 | a0001c0005t0001g0115 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.-128-13306C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99731591 | |||||||
| chr3:99731625 | A | G | 85 | a0001c0001t0001g0209 a0001c0001t0002g0135 a0001c0001t0002g0154 others(82): Show |
85 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(82): Show |
intron_variant | MODIFIER | c.-128-13272A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99731625 | |||||||
| chr3:99731836 | G | A | 2 | a0001c0001t0004g0157 a0001c0001t0004g0253 |
2 | HG03209.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.-128-13061G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99731836 | |||||||
| chr3:99732022 | G | T | 1 | a0001c0001t0006g0207 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.-128-12875G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99732022 | |||||||
| chr3:99732126 | T | C | 1 | a0001c0001t0017g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-128-12771T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99732126 | |||||||
| chr3:99732456 | G | A | 3 | a0001c0001t0003g0084 a0001c0001t0004g0208 a0001c0001t0030g0231 |
3 | HG01891.hp2 HG02895.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.-128-12441G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99732456 | |||||||
| chr3:99732496 | G | C | 82 | a0001c0001t0001g0209 a0001c0001t0002g0154 a0001c0001t0003g0032 others(79): Show |
82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-12401G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99732496 | |||||||
| chr3:99732555 | G | C | 1 | a0001c0001t0001g0023 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.-128-12342G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99732555 | |||||||
| chr3:99732627 | T | C | 1 | a0001c0001t0001g0033 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.-128-12270T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99732627 | |||||||
| chr3:99732690 | C | T | 1 | a0001c0001t0001g0056 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.-128-12207C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99732690 | |||||||
| chr3:99732701 | G | A | 1 | a0001c0001t0017g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-128-12196G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99732701 | |||||||
| chr3:99732807 | A | C | 1 | a0001c0004t0004g0254 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-128-12090A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99732807 | |||||||
| chr3:99732862 | C | T | 1 | a0001c0003t0029g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-128-12035C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99732862 | |||||||
| chr3:99733027 | G | A | 1 | a0002c0006t0001g0087 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.-128-11870G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733027 | |||||||
| chr3:99733118 | CT | C | 87 | a0001c0001t0001g0043 a0001c0001t0001g0106 a0001c0001t0001g0143 others(84): Show |
87 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(84): Show |
intron_variant | MODIFIER | c.-128-11763delT | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99733118 | ||||||
| chr3:99733119 | T | C | 1 | a0001c0001t0009g0222 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.-128-11778T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733119 | |||||||
| chr3:99733143 | T | C | 102 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(99): Show |
104 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(101): Show |
intron_variant | MODIFIER | c.-128-11754T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733143 | |||||||
| chr3:99733144 | T | C | 1 | a0001c0001t0001g0113 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.-128-11753T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733144 | |||||||
| chr3:99733148 | T | A | 12 | a0001c0001t0001g0209 a0001c0001t0006g0046 a0001c0001t0006g0138 others(9): Show |
12 | HG00639.hp1 HG02280.hp1 HG02486.hp1 others(9): Show |
intron_variant | MODIFIER | c.-128-11749T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733148 | |||||||
| chr3:99733148 | TTTA | T | 26 | a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0016 others(23): Show |
26 | HG00639.hp2 HG01168.hp1 HG01169.hp1 others(23): Show |
intron_variant | MODIFIER | c.-128-11735_-128-11 others(9): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99733148 | ||||||
| chr3:99733261 | T | C | 2 | a0001c0001t0003g0050 a0001c0001t0003g0258 |
2 | HG02818.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.-128-11636T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733261 | |||||||
| chr3:99733379 | C | A | 67 | a0001c0001t0002g0154 a0001c0001t0003g0032 a0001c0001t0003g0050 others(64): Show |
67 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(64): Show |
intron_variant | MODIFIER | c.-128-11518C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733379 | |||||||
| chr3:99733381 | C | G | 67 | a0001c0001t0002g0154 a0001c0001t0003g0032 a0001c0001t0003g0050 others(64): Show |
67 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(64): Show |
intron_variant | MODIFIER | c.-128-11516C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733381 | |||||||
| chr3:99733383 | G | C | 67 | a0001c0001t0002g0154 a0001c0001t0003g0032 a0001c0001t0003g0050 others(64): Show |
67 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(64): Show |
intron_variant | MODIFIER | c.-128-11514G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733383 | |||||||
| chr3:99733394 | T | C | 82 | a0001c0001t0001g0209 a0001c0001t0002g0154 a0001c0001t0003g0032 others(79): Show |
82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-11503T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733394 | |||||||
| chr3:99733396 | G | A | 1 | a0001c0001t0007g0155 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.-128-11501G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733396 | |||||||
| chr3:99733404 | T | C | 1 | a0001c0003t0022g0011 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.-128-11493T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733404 | |||||||
| chr3:99733418 | G | A | 3 | a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0003t0029g0213 |
3 | HG01257.hp1 HG01258.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.-128-11479G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733418 | |||||||
| chr3:99733432 | AATG | A | 67 | a0001c0001t0002g0154 a0001c0001t0003g0032 a0001c0001t0003g0050 others(64): Show |
67 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(64): Show |
intron_variant | MODIFIER | c.-128-11459_-128-11 others(9): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99733432 | ||||||
| chr3:99733494 | C | A | 15 | a0001c0001t0004g0012 a0001c0001t0004g0070 a0001c0001t0004g0071 others(12): Show |
15 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(12): Show |
intron_variant | MODIFIER | c.-128-11403C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733494 | |||||||
| chr3:99733523 | C | A | 1 | a0001c0001t0001g0116 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.-128-11374C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733523 | |||||||
| chr3:99733597 | C | T | 1 | a0001c0001t0006g0207 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.-128-11300C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733597 | |||||||
| chr3:99733611 | G | A | 5 | a0001c0002t0008g0039 a0001c0002t0008g0040 a0001c0002t0008g0041 others(2): Show |
5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-128-11286G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733611 | |||||||
| chr3:99733616 | T | C | 1 | a0001c0003t0029g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-128-11281T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733616 | |||||||
| chr3:99733654 | G | T | 1 | a0001c0001t0003g0183 | 1 | NA19054.hp2 | intron_variant | MODIFIER | c.-128-11243G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733654 | |||||||
| chr3:99733662 | C | A | 4 | a0001c0001t0006g0207 a0001c0001t0006g0210 a0001c0001t0006g0211 others(1): Show |
4 | HG00639.hp1 HG02818.hp1 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.-128-11235C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733662 | |||||||
| chr3:99733738 | G | T | 15 | a0001c0001t0004g0012 a0001c0001t0004g0070 a0001c0001t0004g0071 others(12): Show |
15 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(12): Show |
intron_variant | MODIFIER | c.-128-11159G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733738 | |||||||
| chr3:99733784 | A | G | 12 | a0001c0001t0001g0209 a0001c0001t0006g0046 a0001c0001t0006g0138 others(9): Show |
12 | HG00639.hp1 HG02280.hp1 HG02486.hp1 others(9): Show |
intron_variant | MODIFIER | c.-128-11113A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733784 | |||||||
| chr3:99733812 | T | A | 64 | a0001c0001t0002g0154 a0001c0001t0003g0032 a0001c0001t0003g0050 others(61): Show |
64 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(61): Show |
intron_variant | MODIFIER | c.-128-11085T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733812 | |||||||
| chr3:99733866 | A | T | 1 | a0001c0003t0029g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-128-11031A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733866 | |||||||
| chr3:99733937 | T | G | 3 | a0001c0001t0006g0138 a0001c0001t0006g0151 a0001c0001t0006g0256 |
3 | HG02559.hp2 HG02895.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.-128-10960T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733937 | |||||||
| chr3:99733972 | C | T | 3 | a0001c0001t0006g0207 a0001c0001t0006g0210 a0001c0001t0006g0211 |
3 | HG00639.hp1 HG02818.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.-128-10925C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733972 | |||||||
| chr3:99733975 | C | T | 12 | a0001c0001t0001g0209 a0001c0001t0006g0046 a0001c0001t0006g0138 others(9): Show |
12 | HG00639.hp1 HG02280.hp1 HG02486.hp1 others(9): Show |
intron_variant | MODIFIER | c.-128-10922C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99733975 | |||||||
| chr3:99734101 | C | T | 1 | a0001c0001t0004g0208 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-128-10796C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734101 | |||||||
| chr3:99734107 | A | C | 13 | a0001c0001t0001g0006 a0001c0001t0001g0034 a0001c0001t0001g0043 others(10): Show |
13 | HG01891.hp1 HG02055.hp1 HG02109.hp2 others(10): Show |
intron_variant | MODIFIER | c.-128-10790A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734107 | |||||||
| chr3:99734124 | C | A | 1 | a0001c0001t0017g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-128-10773C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734124 | |||||||
| chr3:99734148 | G | A | 1 | a0001c0001t0001g0004 | 2 | NA19063.hp1 NA19075.hp1 |
intron_variant | MODIFIER | c.-128-10749G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734148 | |||||||
| chr3:99734192 | G | A | 1 | a0001c0003t0022g0011 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.-128-10705G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734192 | |||||||
| chr3:99734238 | G | C | 82 | a0001c0001t0001g0209 a0001c0001t0002g0154 a0001c0001t0003g0032 others(79): Show |
82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-10659G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734238 | |||||||
| chr3:99734242 | A | G | 82 | a0001c0001t0001g0209 a0001c0001t0002g0154 a0001c0001t0003g0032 others(79): Show |
82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-10655A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734242 | |||||||
| chr3:99734246 | T | A | 82 | a0001c0001t0001g0209 a0001c0001t0002g0154 a0001c0001t0003g0032 others(79): Show |
82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-10651T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734246 | |||||||
| chr3:99734265 | G | C | 15 | a0001c0001t0001g0209 a0001c0001t0003g0084 a0001c0001t0004g0208 others(12): Show |
15 | HG00639.hp1 HG01891.hp2 HG02280.hp1 others(12): Show |
intron_variant | MODIFIER | c.-128-10632G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734265 | |||||||
| chr3:99734266 | G | A | 1 | a0001c0001t0003g0084 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.-128-10631G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734266 | |||||||
| chr3:99734274 | G | T | 82 | a0001c0001t0001g0209 a0001c0001t0002g0154 a0001c0001t0003g0032 others(79): Show |
82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-10623G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734274 | |||||||
| chr3:99734275 | G | A | 82 | a0001c0001t0001g0209 a0001c0001t0002g0154 a0001c0001t0003g0032 others(79): Show |
82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-10622G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734275 | |||||||
| chr3:99734290 | A | G | 82 | a0001c0001t0001g0209 a0001c0001t0002g0154 a0001c0001t0003g0032 others(79): Show |
82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-10607A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734290 | |||||||
| chr3:99734301 | C | T | 82 | a0001c0001t0001g0209 a0001c0001t0002g0154 a0001c0001t0003g0032 others(79): Show |
82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-10596C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734301 | |||||||
| chr3:99734305 | C | G | 82 | a0001c0001t0001g0209 a0001c0001t0002g0154 a0001c0001t0003g0032 others(79): Show |
82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-10592C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734305 | |||||||
| chr3:99734317 | A | G | 82 | a0001c0001t0001g0209 a0001c0001t0002g0154 a0001c0001t0003g0032 others(79): Show |
82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-10580A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734317 | |||||||
| chr3:99734393 | T | A | 82 | a0001c0001t0001g0209 a0001c0001t0002g0154 a0001c0001t0003g0032 others(79): Show |
82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-10504T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734393 | |||||||
| chr3:99734401 | T | C | 3 | a0001c0001t0003g0084 a0001c0001t0004g0208 a0001c0001t0030g0231 |
3 | HG01891.hp2 HG02895.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.-128-10496T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734401 | |||||||
| chr3:99734470 | T | C | 82 | a0001c0001t0001g0209 a0001c0001t0002g0154 a0001c0001t0003g0032 others(79): Show |
82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-10427T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734470 | |||||||
| chr3:99734600 | C | T | 1 | a0001c0001t0001g0055 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.-128-10297C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734600 | |||||||
| chr3:99734626 | G | A | 1 | a0001c0003t0029g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-128-10271G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734626 | |||||||
| chr3:99734630 | C | T | 4 | a0001c0001t0010g0141 a0001c0001t0010g0142 a0001c0001t0010g0159 others(1): Show |
4 | HG01074.hp2 HG03927.hp1 HG04115.hp2 others(1): Show |
intron_variant | MODIFIER | c.-128-10267C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734630 | |||||||
| chr3:99734670 | T | A | 1 | a0001c0001t0002g0232 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.-128-10227T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734670 | |||||||
| chr3:99734686 | G | T | 1 | a0001c0001t0001g0175 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-128-10211G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734686 | |||||||
| chr3:99734782 | G | A | 1 | a0001c0001t0004g0093 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.-128-10115G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734782 | |||||||
| chr3:99734803 | G | C | 4 | a0001c0001t0003g0050 a0001c0001t0003g0149 a0001c0001t0003g0212 others(1): Show |
4 | HG02615.hp1 HG02818.hp2 HG03486.hp2 others(1): Show |
intron_variant | MODIFIER | c.-128-10094G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734803 | |||||||
| chr3:99734868 | C | G | 1 | a0001c0001t0001g0033 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.-128-10029C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99734868 | |||||||
| chr3:99734946 | CTGTT | C | 49 | a0001c0001t0002g0154 a0001c0001t0003g0032 a0001c0001t0003g0050 others(46): Show |
49 | HG00544.hp2 HG00597.hp1 HG00741.hp2 others(46): Show |
intron_variant | MODIFIER | c.-128-9947_-128-994 others(8): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99734946 | ||||||
| chr3:99735057 | T | C | 3 | a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0230 |
3 | HG02145.hp1 HG03041.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.-128-9840T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99735057 | |||||||
| chr3:99735061 | G | A | 3 | a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0230 |
3 | HG02145.hp1 HG03041.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.-128-9836G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99735061 | |||||||
| chr3:99735141 | T | A | 1 | a0001c0001t0017g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-128-9756T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99735141 | |||||||
| chr3:99735157 | A | G | 2 | a0001c0001t0003g0149 a0001c0001t0003g0212 |
2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-128-9740A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99735157 | |||||||
| chr3:99735183 | C | G | 1 | a0001c0003t0022g0011 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.-128-9714C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99735183 | |||||||
| chr3:99735283 | G | C | 1 | a0001c0001t0006g0156 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.-128-9614G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99735283 | |||||||
| chr3:99735364 | C | T | 228 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(225): Show |
231 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(228): Show |
intron_variant | MODIFIER | c.-128-9533C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99735364 | |||||||
| chr3:99735369 | A | G | 228 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(225): Show |
231 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(228): Show |
intron_variant | MODIFIER | c.-128-9528A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99735369 | |||||||
| chr3:99735376 | G | T | 1 | a0001c0001t0006g0046 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.-128-9521G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99735376 | |||||||
| chr3:99735385 | C | T | 228 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(225): Show |
231 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(228): Show |
intron_variant | MODIFIER | c.-128-9512C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99735385 | |||||||
| chr3:99735424 | G | T | 228 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(225): Show |
231 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(228): Show |
intron_variant | MODIFIER | c.-128-9473G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99735424 | |||||||
| chr3:99735428 | G | A | 228 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(225): Show |
231 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(228): Show |
intron_variant | MODIFIER | c.-128-9469G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99735428 | |||||||
| chr3:99735429 | T | C | 228 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(225): Show |
231 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(228): Show |
intron_variant | MODIFIER | c.-128-9468T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99735429 | |||||||
| chr3:99735438 | T | A | 1 | a0001c0001t0005g0140 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.-128-9459T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99735438 | |||||||
| chr3:99735442 | C | T | 228 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(225): Show |
231 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(228): Show |
intron_variant | MODIFIER | c.-128-9455C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99735442 | |||||||
| chr3:99735580 | A | G | 1 | a0001c0001t0005g0091 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.-128-9317A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99735580 | |||||||
| chr3:99735686 | C | T | 1 | a0001c0001t0001g0106 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.-128-9211C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99735686 | |||||||
| chr3:99735732 | G | C | 1 | a0001c0001t0002g0251 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.-128-9165G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99735732 | |||||||
| chr3:99735759 | C | T | 5 | a0001c0002t0008g0039 a0001c0002t0008g0040 a0001c0002t0008g0041 others(2): Show |
5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-128-9138C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99735759 | |||||||
| chr3:99735779 | C | T | 2 | a0001c0001t0006g0156 a0001c0001t0019g0037 |
2 | HG02280.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.-128-9118C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99735779 | |||||||
| chr3:99735794 | C | G | 1 | a0001c0001t0003g0084 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.-128-9103C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99735794 | |||||||
| chr3:99735898 | G | T | 67 | a0001c0001t0002g0154 a0001c0001t0003g0032 a0001c0001t0003g0050 others(64): Show |
67 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(64): Show |
intron_variant | MODIFIER | c.-128-8999G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99735898 | |||||||
| chr3:99735905 | T | C | 2 | a0001c0001t0003g0149 a0001c0001t0003g0212 |
2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-128-8992T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99735905 | |||||||
| chr3:99736034 | TTC | T | 67 | a0001c0001t0002g0154 a0001c0001t0003g0032 a0001c0001t0003g0050 others(64): Show |
67 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(64): Show |
intron_variant | MODIFIER | c.-128-8857_-128-885 others(6): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99736034 | ||||||
| chr3:99736040 | CTTTT | C | 98 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(95): Show |
100 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(97): Show |
intron_variant | MODIFIER | c.-128-8853_-128-885 others(8): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99736040 | ||||||
| chr3:99736327 | G | A | 1 | a0001c0001t0002g0161 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.-128-8570G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99736327 | |||||||
| chr3:99736371 | C | T | 67 | a0001c0001t0002g0154 a0001c0001t0003g0032 a0001c0001t0003g0050 others(64): Show |
67 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(64): Show |
intron_variant | MODIFIER | c.-128-8526C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99736371 | |||||||
| chr3:99736389 | T | A | 1 | a0001c0001t0006g0226 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-128-8508T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99736389 | |||||||
| chr3:99736399 | T | A | 1 | a0001c0001t0004g0094 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.-128-8498T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99736399 | |||||||
| chr3:99736536 | C | T | 3 | a0001c0001t0001g0031 a0001c0001t0001g0048 a0001c0001t0001g0051 |
3 | HG00735.hp1 HG01891.hp1 HG02717.hp2 |
intron_variant | MODIFIER | c.-128-8361C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99736536 | |||||||
| chr3:99736568 | T | C | 82 | a0001c0001t0001g0209 a0001c0001t0002g0154 a0001c0001t0003g0032 others(79): Show |
82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-8329T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99736568 | |||||||
| chr3:99736596 | TA | T | 12 | a0001c0001t0001g0209 a0001c0001t0006g0046 a0001c0001t0006g0138 others(9): Show |
12 | HG00639.hp1 HG02280.hp1 HG02486.hp1 others(9): Show |
intron_variant | MODIFIER | c.-128-8299delA | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99736596 | ||||||
| chr3:99736778 | G | A | 1 | a0001c0001t0017g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-128-8119G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99736778 | |||||||
| chr3:99736799 | G | C | 1 | a0001c0001t0004g0201 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.-128-8098G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99736799 | |||||||
| chr3:99736822 | G | A | 11 | a0001c0001t0004g0012 a0001c0001t0004g0070 a0001c0001t0004g0071 others(8): Show |
11 | HG00438.hp1 HG00735.hp2 HG01109.hp1 others(8): Show |
intron_variant | MODIFIER | c.-128-8075G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99736822 | |||||||
| chr3:99736875 | T | C | 1 | a0001c0001t0002g0202 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.-128-8022T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99736875 | |||||||
| chr3:99737170 | A | T | 82 | a0001c0001t0001g0209 a0001c0001t0002g0154 a0001c0001t0003g0032 others(79): Show |
82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-7727A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99737170 | |||||||
| chr3:99737187 | G | A | 1 | a0001c0001t0001g0106 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.-128-7710G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99737187 | |||||||
| chr3:99737188 | T | C | 1 | a0001c0001t0001g0106 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.-128-7709T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99737188 | |||||||
| chr3:99737335 | C | T | 2 | a0001c0001t0003g0149 a0001c0001t0003g0212 |
2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-128-7562C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99737335 | |||||||
| chr3:99737367 | G | A | 98 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(95): Show |
100 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(97): Show |
intron_variant | MODIFIER | c.-128-7530G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99737367 | |||||||
| chr3:99737376 | A | T | 186 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(183): Show |
188 | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(185): Show |
intron_variant | MODIFIER | c.-128-7521A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99737376 | |||||||
| chr3:99737503 | T | C | 1 | a0001c0001t0001g0106 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.-128-7394T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99737503 | |||||||
| chr3:99737526 | C | A | 2 | a0001c0001t0003g0149 a0001c0001t0003g0212 |
2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-128-7371C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99737526 | |||||||
| chr3:99737705 | C | T | 83 | a0001c0001t0001g0104 a0001c0001t0001g0209 a0001c0001t0002g0154 others(80): Show |
83 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(80): Show |
intron_variant | MODIFIER | c.-128-7192C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99737705 | |||||||
| chr3:99737931 | A | G | 1 | a0001c0001t0001g0062 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.-128-6966A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99737931 | |||||||
| chr3:99737959 | G | A | 3 | a0001c0001t0003g0190 a0001c0001t0003g0194 a0001c0001t0003g0196 |
3 | HG00597.hp1 NA18942.hp2 NA18952.hp2 |
intron_variant | MODIFIER | c.-128-6938G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99737959 | |||||||
| chr3:99737986 | T | C | 1 | a0001c0001t0004g0158 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.-128-6911T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99737986 | |||||||
| chr3:99738059 | C | T | 1 | a0001c0001t0001g0206 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.-128-6838C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99738059 | |||||||
| chr3:99738081 | T | A | 1 | a0001c0001t0002g0127 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.-128-6816T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99738081 | |||||||
| chr3:99738298 | A | G | 211 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(208): Show |
213 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(210): Show |
intron_variant | MODIFIER | c.-128-6599A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99738298 | |||||||
| chr3:99738333 | G | GT | 5 | a0001c0002t0008g0039 a0001c0002t0008g0040 a0001c0002t0008g0041 others(2): Show |
5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-128-6558dupT | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99738333 | ||||||
| chr3:99738484 | G | A | 3 | a0001c0001t0003g0149 a0001c0001t0003g0212 a0001c0003t0029g0213 |
3 | HG02615.hp1 HG02970.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-128-6413G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99738484 | |||||||
| chr3:99738547 | G | A | 12 | a0001c0001t0001g0209 a0001c0001t0006g0046 a0001c0001t0006g0138 others(9): Show |
12 | HG00639.hp1 HG02280.hp1 HG02486.hp1 others(9): Show |
intron_variant | MODIFIER | c.-128-6350G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99738547 | |||||||
| chr3:99738599 | G | A | 9 | a0001c0001t0001g0237 a0001c0001t0002g0026 a0001c0001t0002g0135 others(6): Show |
9 | HG00323.hp2 HG01192.hp1 HG01361.hp2 others(6): Show |
intron_variant | MODIFIER | c.-128-6298G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99738599 | |||||||
| chr3:99738712 | C | T | 4 | a0001c0001t0001g0209 a0001c0001t0003g0149 a0001c0001t0003g0212 others(1): Show |
4 | HG02486.hp1 HG02615.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.-128-6185C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99738712 | |||||||
| chr3:99738742 | TG | T | 93 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(90): Show |
95 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(92): Show |
intron_variant | MODIFIER | c.-128-6152delG | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99738742 | ||||||
| chr3:99738822 | C | T | 1 | a0001c0001t0002g0135 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.-128-6075C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99738822 | |||||||
| chr3:99738825 | C | T | 1 | a0001c0001t0002g0018 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.-128-6072C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99738825 | |||||||
| chr3:99738858 | G | C | 15 | a0001c0001t0001g0209 a0001c0001t0003g0084 a0001c0001t0004g0208 others(12): Show |
15 | HG00639.hp1 HG01891.hp2 HG02280.hp1 others(12): Show |
intron_variant | MODIFIER | c.-128-6039G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99738858 | |||||||
| chr3:99738871 | G | A | 1 | a0001c0003t0029g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-128-6026G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99738871 | |||||||
| chr3:99738872 | C | T | 1 | a0001c0001t0003g0200 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.-128-6025C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99738872 | |||||||
| chr3:99738873 | G | A | 4 | a0001c0001t0001g0031 a0001c0001t0001g0206 a0001c0001t0001g0216 others(1): Show |
4 | HG00735.hp1 HG01975.hp2 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.-128-6024G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99738873 | |||||||
| chr3:99738887 | G | A | 1 | a0001c0001t0002g0135 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.-128-6010G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99738887 | |||||||
| chr3:99738933 | G | A | 4 | a0001c0001t0001g0112 a0001c0001t0003g0084 a0001c0001t0004g0208 others(1): Show |
4 | HG01891.hp2 HG02895.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.-128-5964G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99738933 | |||||||
| chr3:99738945 | C | T | 1 | a0001c0001t0001g0119 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.-128-5952C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99738945 | |||||||
| chr3:99739017 | C | G | 1 | a0001c0001t0001g0176 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.-128-5880C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99739017 | |||||||
| chr3:99739045 | C | T | 1 | a0001c0001t0001g0176 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.-128-5852C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99739045 | |||||||
| chr3:99739052 | C | T | 1 | a0001c0001t0006g0046 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.-128-5845C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99739052 | |||||||
| chr3:99739091 | G | A | 4 | a0001c0001t0003g0186 a0001c0001t0003g0188 a0001c0001t0003g0192 others(1): Show |
4 | HG02523.hp2 NA18969.hp1 NA18980.hp1 others(1): Show |
intron_variant | MODIFIER | c.-128-5806G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99739091 | |||||||
| chr3:99739097 | C | T | 1 | a0001c0001t0001g0143 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.-128-5800C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99739097 | |||||||
| chr3:99739196 | A | G | 1 | a0001c0001t0006g0151 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.-128-5701A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99739196 | |||||||
| chr3:99739316 | C | T | 1 | a0001c0003t0029g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-128-5581C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99739316 | |||||||
| chr3:99739333 | C | T | 4 | a0001c0001t0006g0138 a0001c0001t0006g0151 a0001c0001t0006g0256 others(1): Show |
4 | HG02257.hp2 HG02559.hp2 HG02895.hp2 others(1): Show |
intron_variant | MODIFIER | c.-128-5564C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99739333 | |||||||
| chr3:99739603 | G | A | 1 | a0001c0003t0029g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-128-5294G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99739603 | |||||||
| chr3:99739783 | A | G | 3 | a0001c0001t0003g0149 a0001c0001t0003g0212 a0001c0003t0029g0213 |
3 | HG02615.hp1 HG02970.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-128-5114A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99739783 | |||||||
| chr3:99739898 | T | C | 82 | a0001c0001t0001g0209 a0001c0001t0002g0154 a0001c0001t0003g0032 others(79): Show |
82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-4999T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99739898 | |||||||
| chr3:99739907 | A | T | 1 | a0001c0001t0005g0233 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.-128-4990A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99739907 | |||||||
| chr3:99740016 | T | C | 2 | a0001c0001t0003g0149 a0001c0001t0003g0212 |
2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-128-4881T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99740016 | |||||||
| chr3:99740036 | G | A | 3 | a0001c0001t0003g0084 a0001c0001t0004g0208 a0001c0001t0030g0231 |
3 | HG01891.hp2 HG02895.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.-128-4861G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99740036 | |||||||
| chr3:99740103 | G | T | 2 | a0001c0001t0003g0050 a0001c0001t0003g0258 |
2 | HG02818.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.-128-4794G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99740103 | |||||||
| chr3:99740117 | T | C | 4 | a0001c0001t0004g0012 a0001c0001t0004g0076 a0001c0001t0004g0121 others(1): Show |
4 | HG02129.hp1 NA18942.hp1 NA19056.hp2 others(1): Show |
intron_variant | MODIFIER | c.-128-4780T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99740117 | |||||||
| chr3:99740121 | A | C | 1 | a0001c0001t0017g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-128-4776A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99740121 | |||||||
| chr3:99740139 | C | A | 3 | a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0068 |
3 | HG01168.hp1 HG01169.hp1 HG02683.hp2 |
intron_variant | MODIFIER | c.-128-4758C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99740139 | |||||||
| chr3:99740207 | C | T | 1 | a0001c0001t0001g0111 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.-128-4690C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99740207 | |||||||
| chr3:99740391 | A | T | 64 | a0001c0001t0002g0154 a0001c0001t0003g0032 a0001c0001t0003g0050 others(61): Show |
64 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(61): Show |
intron_variant | MODIFIER | c.-128-4506A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99740391 | |||||||
| chr3:99740392 | T | A | 98 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(95): Show |
100 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(97): Show |
intron_variant | MODIFIER | c.-128-4505T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99740392 | |||||||
| chr3:99740435 | G | T | 2 | a0001c0001t0004g0093 a0001c0001t0004g0094 |
2 | HG02683.hp1 HG04204.hp2 |
intron_variant | MODIFIER | c.-128-4462G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99740435 | |||||||
| chr3:99740465 | C | A | 5 | a0001c0002t0008g0039 a0001c0002t0008g0040 a0001c0002t0008g0041 others(2): Show |
5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-128-4432C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99740465 | |||||||
| chr3:99740620 | T | C | 5 | a0001c0002t0008g0039 a0001c0002t0008g0040 a0001c0002t0008g0041 others(2): Show |
5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-128-4277T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99740620 | |||||||
| chr3:99740647 | A | G | 1 | a0001c0001t0017g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-128-4250A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99740647 | |||||||
| chr3:99740825 | C | T | 211 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(208): Show |
213 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(210): Show |
intron_variant | MODIFIER | c.-128-4072C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99740825 | |||||||
| chr3:99740903 | G | A | 2 | a0001c0001t0003g0149 a0001c0001t0003g0212 |
2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-128-3994G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99740903 | |||||||
| chr3:99741069 | T | C | 3 | a0001c0001t0003g0088 a0001c0001t0003g0130 a0001c0001t0006g0129 |
3 | NA18971.hp2 NA19004.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.-128-3828T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99741069 | |||||||
| chr3:99741178 | T | C | 1 | a0001c0001t0001g0111 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.-128-3719T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99741178 | |||||||
| chr3:99741359 | A | C | 16 | a0001c0001t0001g0004 a0001c0001t0001g0077 a0001c0001t0001g0095 others(13): Show |
17 | HG00280.hp1 HG02027.hp2 HG02071.hp2 others(14): Show |
intron_variant | MODIFIER | c.-128-3538A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99741359 | |||||||
| chr3:99741454 | C | T | 1 | a0001c0001t0002g0135 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.-128-3443C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99741454 | |||||||
| chr3:99741459 | G | C | 3 | a0001c0001t0006g0138 a0001c0001t0006g0151 a0001c0001t0006g0256 |
3 | HG02559.hp2 HG02895.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.-128-3438G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99741459 | |||||||
| chr3:99741990 | A | T | 2 | a0001c0001t0003g0088 a0001c0001t0006g0129 |
2 | NA19004.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.-128-2907A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99741990 | |||||||
| chr3:99742170 | G | C | 5 | a0001c0002t0008g0039 a0001c0002t0008g0040 a0001c0002t0008g0041 others(2): Show |
5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-128-2727G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99742170 | |||||||
| chr3:99742276 | G | A | 186 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(183): Show |
188 | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(185): Show |
intron_variant | MODIFIER | c.-128-2621G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99742276 | |||||||
| chr3:99742298 | A | G | 1 | a0001c0001t0004g0208 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-128-2599A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99742298 | |||||||
| chr3:99742302 | C | A | 1 | a0001c0001t0004g0208 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-128-2595C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99742302 | |||||||
| chr3:99742386 | C | T | 3 | a0001c0001t0006g0207 a0001c0001t0006g0210 a0001c0001t0006g0211 |
3 | HG00639.hp1 HG02818.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.-128-2511C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99742386 | |||||||
| chr3:99742684 | T | G | 2 | a0001c0001t0003g0032 a0001c0001t0003g0150 |
2 | HG02896.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.-128-2213T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99742684 | |||||||
| chr3:99742697 | C | T | 1 | a0001c0001t0001g0036 | 1 | NA19001.hp2 | intron_variant | MODIFIER | c.-128-2200C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99742697 | |||||||
| chr3:99742732 | C | A | 1 | a0001c0001t0013g0020 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.-128-2165C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99742732 | |||||||
| chr3:99742872 | T | C | 82 | a0001c0001t0001g0209 a0001c0001t0002g0154 a0001c0001t0003g0032 others(79): Show |
82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-2025T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99742872 | |||||||
| chr3:99742880 | A | C | 1 | a0001c0001t0006g0046 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.-128-2017A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99742880 | |||||||
| chr3:99743378 | G | A | 82 | a0001c0001t0001g0209 a0001c0001t0002g0154 a0001c0001t0003g0032 others(79): Show |
82 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.-128-1519G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99743378 | |||||||
| chr3:99743413 | A | T | 1 | a0001c0003t0029g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-128-1484A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99743413 | |||||||
| chr3:99743601 | AAATT | A | 53 | a0001c0001t0002g0154 a0001c0001t0003g0032 a0001c0001t0003g0050 others(50): Show |
53 | HG00544.hp2 HG00597.hp1 HG00741.hp2 others(50): Show |
intron_variant | MODIFIER | c.-128-1289_-128-128 others(8): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99743601 | ||||||
| chr3:99743644 | A | G | 1 | a0001c0001t0001g0175 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-128-1253A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99743644 | |||||||
| chr3:99743803 | G | A | 186 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(183): Show |
188 | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(185): Show |
intron_variant | MODIFIER | c.-128-1094G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99743803 | |||||||
| chr3:99743930 | C | CT | 18 | a0001c0001t0002g0232 a0001c0001t0004g0012 a0001c0001t0004g0070 others(15): Show |
18 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(15): Show |
intron_variant | MODIFIER | c.-128-951dupT | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99743930 | ||||||
| chr3:99743952 | G | A | 1 | a0001c0001t0004g0121 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.-128-945G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99743952 | |||||||
| chr3:99743991 | C | G | 15 | a0001c0001t0004g0012 a0001c0001t0004g0070 a0001c0001t0004g0071 others(12): Show |
15 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(12): Show |
intron_variant | MODIFIER | c.-128-906C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99743991 | |||||||
| chr3:99744006 | G | A | 1 | a0001c0001t0030g0231 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.-128-891G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99744006 | |||||||
| chr3:99744119 | A | T | 1 | a0001c0001t0015g0179 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.-128-778A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99744119 | |||||||
| chr3:99744220 | G | A | 5 | a0001c0002t0008g0039 a0001c0002t0008g0040 a0001c0002t0008g0041 others(2): Show |
5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-128-677G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99744220 | |||||||
| chr3:99744455 | A | G | 1 | a0001c0001t0001g0209 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-128-442A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99744455 | |||||||
| chr3:99744552 | T | G | 1 | a0001c0001t0001g0106 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.-128-345T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99744552 | |||||||
| chr3:99744717 | A | G | 1 | a0001c0001t0001g0252 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.-128-180A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | chr3 | 99744717 | |||||||
| chr3:99744837 | T | TAC | 195 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(192): Show |
198 | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(195): Show |
intron_variant | MODIFIER | c.-128-59_-128-58dup others(2): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | 99744837 | ||||||
| chr3:99745048 | G | A | 1 | a0001c0001t0017g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-4+27G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99745048 | |||||||
| chr3:99745050 | G | A | 2 | a0001c0001t0004g0093 a0001c0001t0004g0094 |
2 | HG02683.hp1 HG04204.hp2 |
intron_variant | MODIFIER | c.-4+29G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99745050 | |||||||
| chr3:99745256 | C | T | 10 | a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0022 others(7): Show |
10 | HG00558.hp1 HG01952.hp1 HG02132.hp1 others(7): Show |
intron_variant | MODIFIER | c.-4+235C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99745256 | |||||||
| chr3:99745308 | T | C | 1 | a0001c0001t0004g0253 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-4+287T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99745308 | |||||||
| chr3:99745544 | G | C | 79 | a0001c0001t0003g0032 a0001c0001t0003g0050 a0001c0001t0003g0084 others(76): Show |
79 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(76): Show |
intron_variant | MODIFIER | c.-4+523G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99745544 | |||||||
| chr3:99745814 | A | G | 1 | a0001c0001t0002g0026 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.-4+793A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99745814 | |||||||
| chr3:99745832 | GA | G | 103 | a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0016 others(100): Show |
103 | HG00438.hp1 HG00544.hp2 HG00558.hp1 others(100): Show |
intron_variant | MODIFIER | c.-4+823delA | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99745832 | ||||||
| chr3:99746010 | T | C | 2 | a0001c0001t0004g0070 a0001c0001t0004g0071 |
2 | HG01109.hp1 HG03704.hp2 |
intron_variant | MODIFIER | c.-4+989T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99746010 | |||||||
| chr3:99746028 | G | T | 1 | a0001c0001t0006g0138 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.-4+1007G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99746028 | |||||||
| chr3:99746031 | T | C | 2 | a0001c0001t0017g0086 a0001c0003t0022g0011 |
2 | HG02257.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.-4+1010T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99746031 | |||||||
| chr3:99746033 | G | T | 56 | a0001c0001t0003g0032 a0001c0001t0003g0050 a0001c0001t0003g0084 others(53): Show |
56 | HG00544.hp2 HG00597.hp1 HG00639.hp1 others(53): Show |
intron_variant | MODIFIER | c.-4+1012G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99746033 | |||||||
| chr3:99746082 | C | A | 17 | a0001c0001t0004g0012 a0001c0001t0004g0070 a0001c0001t0004g0071 others(14): Show |
17 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(14): Show |
intron_variant | MODIFIER | c.-4+1061C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99746082 | |||||||
| chr3:99746145 | C | G | 2 | a0001c0001t0007g0045 a0001c0001t0007g0166 |
2 | HG02486.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.-4+1124C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99746145 | |||||||
| chr3:99746337 | T | C | 3 | a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0230 |
3 | HG02145.hp1 HG03041.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.-4+1316T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99746337 | |||||||
| chr3:99746885 | T | G | 79 | a0001c0001t0003g0032 a0001c0001t0003g0050 a0001c0001t0003g0084 others(76): Show |
79 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(76): Show |
intron_variant | MODIFIER | c.-4+1864T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99746885 | |||||||
| chr3:99747139 | T | A | 54 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 others(51): Show |
57 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(54): Show |
intron_variant | MODIFIER | c.-4+2118T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99747139 | |||||||
| chr3:99747235 | G | T | 16 | a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0005g0014 others(13): Show |
16 | HG00323.hp1 HG00438.hp2 HG00597.hp2 others(13): Show |
intron_variant | MODIFIER | c.-4+2214G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99747235 | |||||||
| chr3:99747267 | T | C | 20 | a0001c0001t0004g0012 a0001c0001t0004g0070 a0001c0001t0004g0071 others(17): Show |
20 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(17): Show |
intron_variant | MODIFIER | c.-4+2246T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99747267 | |||||||
| chr3:99747279 | A | G | 1 | a0001c0001t0006g0226 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-4+2258A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99747279 | |||||||
| chr3:99747642 | C | T | 2 | a0001c0001t0001g0145 a0001c0001t0001g0146 |
2 | HG02080.hp1 NA18986.hp1 |
intron_variant | MODIFIER | c.-4+2621C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99747642 | |||||||
| chr3:99747687 | A | G | 10 | a0001c0001t0002g0001 a0001c0001t0002g0018 a0001c0001t0002g0057 others(7): Show |
11 | HG00140.hp1 HG00738.hp1 HG00741.hp2 others(8): Show |
intron_variant | MODIFIER | c.-4+2666A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99747687 | |||||||
| chr3:99747718 | T | C | 1 | a0001c0001t0001g0067 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.-4+2697T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99747718 | |||||||
| chr3:99747723 | G | T | 1 | a0001c0001t0004g0073 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.-4+2702G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99747723 | |||||||
| chr3:99748056 | T | C | 1 | a0001c0003t0029g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-4+3035T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99748056 | |||||||
| chr3:99748134 | C | A | 17 | a0001c0001t0004g0012 a0001c0001t0004g0070 a0001c0001t0004g0071 others(14): Show |
17 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(14): Show |
intron_variant | MODIFIER | c.-4+3113C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99748134 | |||||||
| chr3:99748290 | A | G | 1 | a0001c0001t0030g0231 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.-4+3269A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99748290 | |||||||
| chr3:99748552 | T | C | 1 | a0001c0001t0001g0198 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.-4+3531T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99748552 | |||||||
| chr3:99748575 | A | G | 1 | a0001c0001t0001g0069 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.-4+3554A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99748575 | |||||||
| chr3:99748764 | A | G | 1 | a0001c0001t0030g0231 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.-4+3743A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99748764 | |||||||
| chr3:99749003 | T | C | 2 | a0001c0001t0003g0050 a0001c0001t0003g0258 |
2 | HG02818.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.-4+3982T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99749003 | |||||||
| chr3:99749178 | G | GT | 4 | a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0067 others(1): Show |
4 | HG00639.hp2 HG01175.hp1 HG01257.hp2 others(1): Show |
intron_variant | MODIFIER | c.-4+4158dupT | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99749178 | ||||||
| chr3:99749255 | T | G | 3 | a0001c0001t0006g0207 a0001c0001t0006g0210 a0001c0001t0006g0211 |
3 | HG00639.hp1 HG02818.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.-4+4234T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99749255 | |||||||
| chr3:99749263 | A | AG | 12 | a0001c0001t0003g0032 a0001c0001t0003g0050 a0001c0001t0003g0084 others(9): Show |
12 | HG01952.hp2 HG02257.hp2 HG02486.hp2 others(9): Show |
intron_variant | MODIFIER | c.-4+4244dupG | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99749263 | ||||||
| chr3:99749360 | T | TAAAATCA others(322): Show |
1 | a0001c0003t0022g0011 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.-4+4352_-4+4353ins others(329): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99749360 | ||||||
| chr3:99749390 | G | A | 79 | a0001c0001t0003g0032 a0001c0001t0003g0050 a0001c0001t0003g0084 others(76): Show |
79 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(76): Show |
intron_variant | MODIFIER | c.-4+4369G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99749390 | |||||||
| chr3:99749484 | G | A | 2 | a0001c0001t0004g0208 a0001c0001t0030g0231 |
2 | HG01891.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.-4+4463G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99749484 | |||||||
| chr3:99749527 | G | C | 2 | a0001c0001t0001g0004 a0001c0001t0001g0077 |
3 | NA19063.hp1 NA19074.hp1 NA19075.hp1 |
intron_variant | MODIFIER | c.-4+4506G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99749527 | |||||||
| chr3:99749580 | C | T | 1 | a0001c0001t0030g0231 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.-4+4559C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99749580 | |||||||
| chr3:99749822 | A | C | 56 | a0001c0001t0003g0032 a0001c0001t0003g0050 a0001c0001t0003g0084 others(53): Show |
56 | HG00544.hp2 HG00597.hp1 HG00639.hp1 others(53): Show |
intron_variant | MODIFIER | c.-4+4801A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99749822 | |||||||
| chr3:99750049 | C | CT | 79 | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0033 others(76): Show |
81 | HG00140.hp2 HG00323.hp1 HG00438.hp2 others(78): Show |
intron_variant | MODIFIER | c.-4+5053dupT | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99750049 | ||||||
| chr3:99750049 | C | CTT | 11 | a0001c0001t0001g0006 a0001c0001t0001g0101 a0001c0001t0001g0111 others(8): Show |
11 | HG01978.hp2 HG02280.hp2 HG02738.hp1 others(8): Show |
intron_variant | MODIFIER | c.-4+5052_-4+5053dup others(2): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99750049 | ||||||
| chr3:99750049 | CT | C | 64 | a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0206 others(61): Show |
64 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(61): Show |
intron_variant | MODIFIER | c.-4+5053delT | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99750049 | ||||||
| chr3:99750049 | CTT | C | 6 | a0001c0001t0003g0032 a0001c0001t0003g0172 a0001c0001t0004g0121 others(3): Show |
6 | HG01257.hp1 HG02523.hp2 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.-4+5052_-4+5053del others(2): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99750049 | ||||||
| chr3:99750083 | T | G | 79 | a0001c0001t0003g0032 a0001c0001t0003g0050 a0001c0001t0003g0084 others(76): Show |
79 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(76): Show |
intron_variant | MODIFIER | c.-4+5062T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99750083 | |||||||
| chr3:99750100 | C | T | 3 | a0001c0001t0006g0138 a0001c0001t0006g0151 a0001c0001t0006g0256 |
3 | HG02559.hp2 HG02895.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.-4+5079C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99750100 | |||||||
| chr3:99750192 | A | G | 197 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(194): Show |
200 | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(197): Show |
intron_variant | MODIFIER | c.-4+5171A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99750192 | |||||||
| chr3:99750336 | C | T | 1 | a0001c0001t0001g0055 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.-4+5315C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99750336 | |||||||
| chr3:99750461 | C | G | 1 | a0001c0001t0002g0168 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.-4+5440C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99750461 | |||||||
| chr3:99750542 | C | T | 1 | a0001c0001t0003g0196 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.-4+5521C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99750542 | |||||||
| chr3:99750598 | A | G | 1 | a0001c0001t0027g0191 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.-4+5577A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99750598 | |||||||
| chr3:99750618 | A | C | 2 | a0001c0001t0004g0157 a0001c0001t0004g0253 |
2 | HG03209.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.-4+5597A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99750618 | |||||||
| chr3:99750772 | G | C | 5 | a0001c0002t0008g0039 a0001c0002t0008g0040 a0001c0002t0008g0041 others(2): Show |
5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-4+5751G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99750772 | |||||||
| chr3:99751107 | T | A | 2 | a0001c0001t0017g0086 a0001c0003t0022g0011 |
2 | HG02257.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.-4+6086T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99751107 | |||||||
| chr3:99751221 | C | G | 23 | a0001c0001t0003g0149 a0001c0001t0003g0212 a0001c0001t0004g0012 others(20): Show |
23 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(20): Show |
intron_variant | MODIFIER | c.-4+6200C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99751221 | |||||||
| chr3:99751329 | G | A | 13 | a0001c0001t0001g0006 a0001c0001t0001g0034 a0001c0001t0001g0043 others(10): Show |
13 | HG01891.hp1 HG02055.hp1 HG02109.hp2 others(10): Show |
intron_variant | MODIFIER | c.-4+6308G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99751329 | |||||||
| chr3:99751401 | T | C | 4 | a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0004g0073 others(1): Show |
4 | HG00735.hp2 HG01109.hp1 HG03704.hp2 others(1): Show |
intron_variant | MODIFIER | c.-4+6380T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99751401 | |||||||
| chr3:99751472 | T | C | 1 | a0001c0001t0006g0138 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.-4+6451T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99751472 | |||||||
| chr3:99751498 | G | T | 1 | a0001c0001t0004g0093 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.-4+6477G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99751498 | |||||||
| chr3:99751503 | A | G | 189 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(186): Show |
192 | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(189): Show |
intron_variant | MODIFIER | c.-4+6482A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99751503 | |||||||
| chr3:99751644 | C | T | 1 | a0002c0006t0001g0087 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.-4+6623C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99751644 | |||||||
| chr3:99752040 | T | C | 2 | a0001c0001t0003g0088 a0001c0001t0006g0129 |
2 | NA19004.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.-4+7019T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99752040 | |||||||
| chr3:99752105 | T | C | 3 | a0001c0001t0006g0207 a0001c0001t0006g0210 a0001c0001t0006g0211 |
3 | HG00639.hp1 HG02818.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.-4+7084T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99752105 | |||||||
| chr3:99752325 | G | T | 1 | a0001c0001t0004g0253 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-4+7304G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99752325 | |||||||
| chr3:99752342 | A | G | 1 | a0001c0001t0001g0246 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-4+7321A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99752342 | |||||||
| chr3:99752407 | T | C | 166 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(163): Show |
169 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(166): Show |
intron_variant | MODIFIER | c.-4+7386T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99752407 | |||||||
| chr3:99752464 | G | T | 166 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(163): Show |
169 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(166): Show |
intron_variant | MODIFIER | c.-4+7443G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99752464 | |||||||
| chr3:99752636 | TCTC | T | 7 | a0001c0001t0006g0046 a0001c0001t0006g0156 a0001c0001t0006g0207 others(4): Show |
7 | HG00639.hp1 HG02280.hp1 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.-4+7618_-4+7620del others(3): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99752636 | ||||||
| chr3:99752646 | A | G | 1 | a0001c0001t0004g0208 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-4+7625A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99752646 | |||||||
| chr3:99752672 | C | A | 20 | a0001c0001t0004g0012 a0001c0001t0004g0070 a0001c0001t0004g0071 others(17): Show |
20 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(17): Show |
intron_variant | MODIFIER | c.-4+7651C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99752672 | |||||||
| chr3:99752797 | C | T | 17 | a0001c0001t0004g0012 a0001c0001t0004g0070 a0001c0001t0004g0071 others(14): Show |
17 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(14): Show |
intron_variant | MODIFIER | c.-4+7776C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99752797 | |||||||
| chr3:99752871 | C | T | 1 | a0001c0001t0001g0004 | 2 | NA19063.hp1 NA19075.hp1 |
intron_variant | MODIFIER | c.-4+7850C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99752871 | |||||||
| chr3:99752973 | T | C | 3 | a0001c0001t0006g0138 a0001c0001t0006g0151 a0001c0001t0006g0256 |
3 | HG02559.hp2 HG02895.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.-4+7952T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99752973 | |||||||
| chr3:99753024 | A | G | 8 | a0001c0001t0001g0031 a0001c0001t0001g0055 a0001c0001t0001g0122 others(5): Show |
8 | HG00735.hp1 HG01516.hp1 HG01975.hp2 others(5): Show |
intron_variant | MODIFIER | c.-4+8003A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99753024 | |||||||
| chr3:99753048 | T | G | 2 | a0001c0001t0004g0208 a0001c0001t0030g0231 |
2 | HG01891.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.-4+8027T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99753048 | |||||||
| chr3:99753051 | G | A | 1 | a0001c0001t0004g0253 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-4+8030G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99753051 | |||||||
| chr3:99753289 | A | C | 9 | a0001c0001t0001g0038 a0001c0001t0001g0056 a0001c0001t0001g0102 others(6): Show |
9 | HG00280.hp2 HG01071.hp2 HG01081.hp2 others(6): Show |
intron_variant | MODIFIER | c.-4+8268A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99753289 | |||||||
| chr3:99753564 | A | T | 1 | a0001c0001t0006g0210 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.-4+8543A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99753564 | |||||||
| chr3:99753581 | G | C | 3 | a0001c0001t0011g0005 a0001c0001t0011g0047 a0001c0001t0011g0205 |
3 | HG02809.hp1 HG03209.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.-4+8560G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99753581 | |||||||
| chr3:99753944 | C | T | 1 | a0001c0001t0003g0149 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.-4+8923C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99753944 | |||||||
| chr3:99754132 | C | T | 3 | a0001c0001t0011g0005 a0001c0001t0011g0047 a0001c0001t0011g0205 |
3 | HG02809.hp1 HG03209.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.-4+9111C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99754132 | |||||||
| chr3:99754212 | A | G | 20 | a0001c0001t0004g0012 a0001c0001t0004g0070 a0001c0001t0004g0071 others(17): Show |
20 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(17): Show |
intron_variant | MODIFIER | c.-4+9191A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99754212 | |||||||
| chr3:99754388 | C | T | 3 | a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0230 |
3 | HG02145.hp1 HG03041.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.-4+9367C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99754388 | |||||||
| chr3:99754503 | G | A | 2 | a0001c0001t0003g0149 a0001c0001t0003g0212 |
2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-4+9482G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99754503 | |||||||
| chr3:99754876 | A | G | 112 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(109): Show |
115 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(112): Show |
intron_variant | MODIFIER | c.-4+9855A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99754876 | |||||||
| chr3:99754920 | G | A | 1 | a0001c0001t0002g0164 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.-4+9899G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99754920 | |||||||
| chr3:99754928 | C | T | 1 | a0001c0001t0001g0113 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.-4+9907C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99754928 | |||||||
| chr3:99755006 | C | G | 1 | a0001c0004t0004g0254 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-4+9985C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99755006 | |||||||
| chr3:99755483 | C | T | 108 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(105): Show |
111 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(108): Show |
intron_variant | MODIFIER | c.-4+10462C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99755483 | |||||||
| chr3:99755689 | C | T | 1 | a0001c0001t0004g0208 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-4+10668C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99755689 | |||||||
| chr3:99756018 | C | G | 166 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(163): Show |
169 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(166): Show |
intron_variant | MODIFIER | c.-4+10997C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99756018 | |||||||
| chr3:99756080 | A | G | 1 | a0001c0003t0029g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-4+11059A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99756080 | |||||||
| chr3:99756203 | G | A | 1 | a0001c0001t0001g0043 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.-4+11182G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99756203 | |||||||
| chr3:99756424 | C | T | 112 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(109): Show |
115 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(112): Show |
intron_variant | MODIFIER | c.-4+11403C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99756424 | |||||||
| chr3:99756445 | T | C | 1 | a0001c0001t0002g0026 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.-4+11424T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99756445 | |||||||
| chr3:99756493 | A | G | 1 | a0001c0001t0002g0026 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.-4+11472A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99756493 | |||||||
| chr3:99756610 | G | A | 1 | a0001c0001t0002g0232 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.-4+11589G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99756610 | |||||||
| chr3:99756622 | T | A | 20 | a0001c0001t0004g0012 a0001c0001t0004g0070 a0001c0001t0004g0071 others(17): Show |
20 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(17): Show |
intron_variant | MODIFIER | c.-4+11601T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99756622 | |||||||
| chr3:99756655 | T | G | 5 | a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0230 others(2): Show |
5 | HG02145.hp1 HG03041.hp1 HG03209.hp2 others(2): Show |
intron_variant | MODIFIER | c.-4+11634T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99756655 | |||||||
| chr3:99756709 | C | T | 1 | a0001c0001t0001g0176 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.-4+11688C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99756709 | |||||||
| chr3:99756718 | G | A | 5 | a0001c0002t0008g0039 a0001c0002t0008g0040 a0001c0002t0008g0041 others(2): Show |
5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-4+11697G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99756718 | |||||||
| chr3:99756783 | CACTT | C | 4 | a0001c0001t0004g0208 a0001c0001t0017g0086 a0001c0001t0030g0231 others(1): Show |
4 | HG01891.hp2 HG02257.hp1 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.-4+11763_-4+11766d others(6): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99756783 | |||||||
| chr3:99757277 | C | G | 215 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(212): Show |
218 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(215): Show |
intron_variant | MODIFIER | c.-4+12256C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99757277 | |||||||
| chr3:99757366 | T | C | 2 | a0001c0001t0017g0086 a0001c0003t0022g0011 |
2 | HG02257.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.-4+12345T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99757366 | |||||||
| chr3:99757451 | C | T | 112 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(109): Show |
115 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(112): Show |
intron_variant | MODIFIER | c.-4+12430C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99757451 | |||||||
| chr3:99757491 | A | G | 1 | a0001c0001t0023g0072 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.-4+12470A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99757491 | |||||||
| chr3:99757504 | G | T | 1 | a0001c0001t0001g0146 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.-4+12483G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99757504 | |||||||
| chr3:99757540 | G | T | 112 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(109): Show |
115 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(112): Show |
intron_variant | MODIFIER | c.-4+12519G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99757540 | |||||||
| chr3:99757616 | C | T | 5 | a0001c0002t0008g0039 a0001c0002t0008g0040 a0001c0002t0008g0041 others(2): Show |
5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-4+12595C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99757616 | |||||||
| chr3:99757676 | T | C | 1 | a0001c0001t0001g0117 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.-4+12655T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99757676 | |||||||
| chr3:99757787 | A | G | 4 | a0001c0001t0006g0207 a0001c0001t0006g0210 a0001c0001t0006g0211 others(1): Show |
4 | HG00639.hp1 HG02818.hp1 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.-4+12766A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99757787 | |||||||
| chr3:99758238 | A | T | 1 | a0001c0003t0029g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-4+13217A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99758238 | |||||||
| chr3:99758298 | A | G | 197 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(194): Show |
200 | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(197): Show |
intron_variant | MODIFIER | c.-4+13277A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99758298 | |||||||
| chr3:99758338 | C | T | 112 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(109): Show |
115 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(112): Show |
intron_variant | MODIFIER | c.-4+13317C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99758338 | |||||||
| chr3:99758434 | T | G | 1 | a0001c0003t0029g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-4+13413T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99758434 | |||||||
| chr3:99758715 | C | T | 3 | a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0230 |
3 | HG02145.hp1 HG03041.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.-4+13694C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99758715 | |||||||
| chr3:99758813 | A | G | 1 | a0001c0001t0005g0171 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.-4+13792A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99758813 | |||||||
| chr3:99758814 | C | G | 1 | a0001c0001t0005g0171 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.-4+13793C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99758814 | |||||||
| chr3:99758815 | C | T | 1 | a0001c0001t0005g0171 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.-4+13794C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99758815 | |||||||
| chr3:99758857 | G | A | 2 | a0001c0001t0003g0149 a0001c0001t0003g0212 |
2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-4+13836G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99758857 | |||||||
| chr3:99758978 | G | T | 1 | a0001c0001t0001g0099 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.-4+13957G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99758978 | |||||||
| chr3:99759106 | C | CTTT | 9 | a0001c0001t0001g0117 a0001c0001t0004g0208 a0001c0001t0030g0231 others(6): Show |
9 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(6): Show |
intron_variant | MODIFIER | c.-4+14097_-4+14099d others(5): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99759106 | ||||||
| chr3:99759106 | C | CTTTT | 99 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(96): Show |
101 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(98): Show |
intron_variant | MODIFIER | c.-4+14096_-4+14099d others(6): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99759106 | ||||||
| chr3:99759323 | G | A | 1 | a0001c0001t0006g0219 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-4+14302G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99759323 | |||||||
| chr3:99759362 | C | T | 2 | a0001c0001t0014g0075 a0001c0001t0014g0079 |
2 | HG00438.hp1 HG02080.hp2 |
intron_variant | MODIFIER | c.-4+14341C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99759362 | |||||||
| chr3:99759371 | T | C | 1 | a0001c0001t0011g0205 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.-4+14350T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99759371 | |||||||
| chr3:99759458 | C | T | 1 | a0001c0001t0006g0226 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-4+14437C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99759458 | |||||||
| chr3:99759569 | T | C | 5 | a0001c0002t0008g0039 a0001c0002t0008g0040 a0001c0002t0008g0041 others(2): Show |
5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-4+14548T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99759569 | |||||||
| chr3:99759890 | G | A | 2 | a0001c0001t0003g0128 a0001c0001t0026g0015 |
2 | HG04184.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.-4+14869G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99759890 | |||||||
| chr3:99759896 | T | C | 5 | a0001c0002t0008g0039 a0001c0002t0008g0040 a0001c0002t0008g0041 others(2): Show |
5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-4+14875T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99759896 | |||||||
| chr3:99760348 | A | C | 1 | a0001c0001t0004g0157 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.-4+15327A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99760348 | |||||||
| chr3:99760705 | T | C | 54 | a0001c0001t0003g0032 a0001c0001t0003g0050 a0001c0001t0003g0084 others(51): Show |
54 | HG00544.hp2 HG00597.hp1 HG00639.hp1 others(51): Show |
intron_variant | MODIFIER | c.-4+15684T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99760705 | |||||||
| chr3:99760760 | C | T | 1 | a0001c0001t0005g0089 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.-4+15739C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99760760 | |||||||
| chr3:99761368 | T | G | 1 | a0001c0001t0002g0127 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.-4+16347T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99761368 | |||||||
| chr3:99761446 | C | A | 2 | a0001c0001t0003g0183 a0001c0001t0003g0200 |
2 | NA19054.hp2 NA19064.hp2 |
intron_variant | MODIFIER | c.-4+16425C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99761446 | |||||||
| chr3:99761517 | T | A | 5 | a0001c0002t0008g0039 a0001c0002t0008g0040 a0001c0002t0008g0041 others(2): Show |
5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-4+16496T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99761517 | |||||||
| chr3:99761706 | ACT | A | 16 | a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 others(13): Show |
16 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(13): Show |
intron_variant | MODIFIER | c.-4+16690_-4+16691d others(4): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99761706 | ||||||
| chr3:99761746 | T | C | 1 | a0001c0003t0029g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-4+16725T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99761746 | |||||||
| chr3:99761776 | G | A | 2 | a0001c0001t0004g0073 a0001c0001t0004g0074 |
2 | HG00735.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.-4+16755G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99761776 | |||||||
| chr3:99761811 | T | C | 1 | a0001c0001t0003g0032 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.-4+16790T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99761811 | |||||||
| chr3:99761853 | A | G | 1 | a0001c0001t0005g0233 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.-4+16832A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99761853 | |||||||
| chr3:99762499 | G | A | 1 | a0001c0001t0001g0144 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.-4+17478G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99762499 | |||||||
| chr3:99762507 | A | T | 1 | a0001c0002t0024g0197 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-4+17486A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99762507 | |||||||
| chr3:99762538 | T | A | 2 | a0001c0001t0004g0157 a0001c0001t0004g0253 |
2 | HG03209.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.-4+17517T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99762538 | |||||||
| chr3:99762551 | C | T | 2 | a0001c0001t0004g0208 a0001c0001t0030g0231 |
2 | HG01891.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.-4+17530C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99762551 | |||||||
| chr3:99762695 | G | T | 20 | a0001c0001t0004g0012 a0001c0001t0004g0070 a0001c0001t0004g0071 others(17): Show |
20 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(17): Show |
intron_variant | MODIFIER | c.-4+17674G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99762695 | |||||||
| chr3:99762777 | C | T | 44 | a0001c0001t0003g0032 a0001c0001t0003g0050 a0001c0001t0003g0084 others(41): Show |
44 | HG00544.hp2 HG00597.hp1 HG01257.hp1 others(41): Show |
intron_variant | MODIFIER | c.-4+17756C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99762777 | |||||||
| chr3:99762855 | G | A | 3 | a0001c0001t0011g0005 a0001c0001t0011g0047 a0001c0001t0011g0205 |
3 | HG02809.hp1 HG03209.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.-4+17834G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99762855 | |||||||
| chr3:99762874 | C | G | 1 | a0001c0001t0005g0140 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.-4+17853C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99762874 | |||||||
| chr3:99762986 | C | G | 3 | a0001c0001t0006g0207 a0001c0001t0006g0210 a0001c0001t0006g0211 |
3 | HG00639.hp1 HG02818.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.-4+17965C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99762986 | |||||||
| chr3:99763025 | A | G | 2 | a0001c0001t0011g0005 a0001c0001t0011g0047 |
2 | HG02809.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.-4+18004A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99763025 | |||||||
| chr3:99763068 | A | G | 1 | a0001c0001t0006g0226 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-4+18047A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99763068 | |||||||
| chr3:99763100 | T | C | 2 | a0001c0001t0001g0235 a0001c0001t0001g0236 |
2 | HG02809.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.-4+18079T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99763100 | |||||||
| chr3:99763102 | T | C | 112 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(109): Show |
115 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(112): Show |
intron_variant | MODIFIER | c.-4+18081T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99763102 | |||||||
| chr3:99763193 | A | G | 3 | a0001c0001t0006g0138 a0001c0001t0006g0151 a0001c0001t0006g0256 |
3 | HG02559.hp2 HG02895.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.-4+18172A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99763193 | |||||||
| chr3:99763274 | A | T | 3 | a0001c0001t0002g0136 a0001c0001t0002g0238 a0001c0001t0002g0239 |
3 | HG02129.hp2 NA18969.hp2 NA19007.hp1 |
intron_variant | MODIFIER | c.-4+18253A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99763274 | |||||||
| chr3:99763373 | C | T | 2 | a0001c0001t0005g0224 a0001c0001t0005g0233 |
2 | HG02717.hp1 HG02723.hp1 |
intron_variant | MODIFIER | c.-4+18352C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99763373 | |||||||
| chr3:99763414 | C | A | 1 | a0001c0003t0029g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-4+18393C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99763414 | |||||||
| chr3:99763470 | G | C | 98 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(95): Show |
101 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(98): Show |
intron_variant | MODIFIER | c.-4+18449G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99763470 | |||||||
| chr3:99763533 | C | T | 1 | a0001c0001t0002g0057 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.-4+18512C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99763533 | |||||||
| chr3:99763567 | G | T | 1 | a0001c0001t0002g0154 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.-4+18546G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99763567 | |||||||
| chr3:99763819 | C | A | 1 | a0001c0003t0029g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-4+18798C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99763819 | |||||||
| chr3:99764427 | T | A | 186 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(183): Show |
189 | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(186): Show |
intron_variant | MODIFIER | c.-4+19406T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99764427 | |||||||
| chr3:99764454 | C | T | 2 | a0001c0001t0002g0131 a0001c0001t0002g0132 |
2 | HG00280.hp1 HG02735.hp2 |
intron_variant | MODIFIER | c.-4+19433C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99764454 | |||||||
| chr3:99764501 | G | A | 2 | a0001c0001t0003g0149 a0001c0001t0003g0212 |
2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-4+19480G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99764501 | |||||||
| chr3:99764655 | G | A | 4 | a0001c0001t0004g0208 a0001c0001t0017g0086 a0001c0001t0030g0231 others(1): Show |
4 | HG01891.hp2 HG02257.hp1 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.-4+19634G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99764655 | |||||||
| chr3:99764683 | C | T | 20 | a0001c0001t0004g0012 a0001c0001t0004g0070 a0001c0001t0004g0071 others(17): Show |
20 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(17): Show |
intron_variant | MODIFIER | c.-4+19662C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99764683 | |||||||
| chr3:99764701 | C | CT | 69 | a0001c0001t0001g0031 a0001c0001t0001g0055 a0001c0001t0001g0095 others(66): Show |
70 | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(67): Show |
intron_variant | MODIFIER | c.-4+19696dupT | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99764701 | ||||||
| chr3:99764701 | C | CTT | 176 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(173): Show |
179 | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(176): Show |
intron_variant | MODIFIER | c.-4+19695_-4+19696d others(4): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99764701 | ||||||
| chr3:99764701 | C | CTTT | 9 | a0001c0001t0001g0137 a0001c0001t0003g0152 a0001c0001t0003g0186 others(6): Show |
9 | HG01891.hp2 HG02257.hp1 HG02683.hp1 others(6): Show |
intron_variant | MODIFIER | c.-4+19694_-4+19696d others(5): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99764701 | ||||||
| chr3:99764748 | G | A | 15 | a0001c0001t0003g0088 a0001c0001t0003g0128 a0001c0001t0003g0130 others(12): Show |
15 | HG01257.hp1 HG01258.hp1 HG01934.hp1 others(12): Show |
intron_variant | MODIFIER | c.-4+19727G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99764748 | |||||||
| chr3:99764929 | A | G | 112 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(109): Show |
115 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(112): Show |
intron_variant | MODIFIER | c.-4+19908A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99764929 | |||||||
| chr3:99764935 | C | G | 1 | a0001c0001t0006g0226 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-4+19914C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99764935 | |||||||
| chr3:99765491 | A | G | 1 | a0001c0003t0029g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-4+20470A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99765491 | |||||||
| chr3:99765675 | A | G | 1 | a0001c0001t0001g0206 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.-4+20654A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99765675 | |||||||
| chr3:99766036 | G | A | 1 | a0001c0003t0029g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-4+21015G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99766036 | |||||||
| chr3:99766232 | C | T | 1 | a0001c0001t0017g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-4+21211C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99766232 | |||||||
| chr3:99766950 | G | C | 7 | a0001c0001t0001g0031 a0001c0001t0001g0055 a0001c0001t0001g0122 others(4): Show |
7 | HG00735.hp1 HG01516.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.-4+21929G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99766950 | |||||||
| chr3:99766950 | G | GA | 112 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(109): Show |
115 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(112): Show |
intron_variant | MODIFIER | c.-4+21941dupA | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99766950 | ||||||
| chr3:99766951 | A | C | 1 | a0001c0001t0001g0217 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.-4+21930A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99766951 | |||||||
| chr3:99766963 | T | A | 1 | a0001c0001t0006g0226 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-4+21942T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99766963 | |||||||
| chr3:99766982 | G | A | 1 | a0001c0001t0002g0167 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.-4+21961G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99766982 | |||||||
| chr3:99767194 | A | G | 20 | a0001c0001t0004g0012 a0001c0001t0004g0070 a0001c0001t0004g0071 others(17): Show |
20 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(17): Show |
intron_variant | MODIFIER | c.-4+22173A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99767194 | |||||||
| chr3:99767231 | A | T | 166 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(163): Show |
169 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(166): Show |
intron_variant | MODIFIER | c.-4+22210A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99767231 | |||||||
| chr3:99767291 | G | A | 20 | a0001c0001t0004g0012 a0001c0001t0004g0070 a0001c0001t0004g0071 others(17): Show |
20 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(17): Show |
intron_variant | MODIFIER | c.-4+22270G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99767291 | |||||||
| chr3:99767776 | G | T | 1 | a0001c0001t0006g0221 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.-4+22755G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99767776 | |||||||
| chr3:99767923 | G | A | 2 | a0001c0001t0003g0149 a0001c0001t0003g0212 |
2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-3-22757G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99767923 | |||||||
| chr3:99767960 | G | A | 1 | a0001c0001t0004g0253 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-3-22720G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99767960 | |||||||
| chr3:99767985 | C | A | 1 | a0001c0001t0004g0208 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-3-22695C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99767985 | |||||||
| chr3:99768030 | T | C | 1 | a0001c0001t0004g0074 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.-3-22650T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99768030 | |||||||
| chr3:99768053 | T | C | 3 | a0001c0001t0006g0207 a0001c0001t0006g0210 a0001c0001t0006g0211 |
3 | HG00639.hp1 HG02818.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.-3-22627T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99768053 | |||||||
| chr3:99768310 | T | C | 166 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(163): Show |
169 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(166): Show |
intron_variant | MODIFIER | c.-3-22370T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99768310 | |||||||
| chr3:99768500 | G | C | 7 | a0001c0001t0003g0088 a0001c0001t0003g0128 a0001c0001t0003g0130 others(4): Show |
7 | HG02683.hp1 HG04184.hp1 HG04204.hp2 others(4): Show |
intron_variant | MODIFIER | c.-3-22180G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99768500 | |||||||
| chr3:99768531 | T | G | 112 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(109): Show |
115 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(112): Show |
intron_variant | MODIFIER | c.-3-22149T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99768531 | |||||||
| chr3:99768746 | C | G | 1 | a0001c0001t0002g0238 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.-3-21934C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99768746 | |||||||
| chr3:99768814 | T | C | 27 | a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0016 others(24): Show |
27 | HG00558.hp1 HG00639.hp2 HG01168.hp1 others(24): Show |
intron_variant | MODIFIER | c.-3-21866T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99768814 | |||||||
| chr3:99769086 | A | G | 1 | a0001c0001t0005g0224 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.-3-21594A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99769086 | |||||||
| chr3:99769108 | T | C | 3 | a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0230 |
3 | HG02145.hp1 HG03041.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.-3-21572T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99769108 | |||||||
| chr3:99769154 | C | A | 20 | a0001c0001t0004g0012 a0001c0001t0004g0070 a0001c0001t0004g0071 others(17): Show |
20 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(17): Show |
intron_variant | MODIFIER | c.-3-21526C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99769154 | |||||||
| chr3:99769295 | C | T | 20 | a0001c0001t0004g0012 a0001c0001t0004g0070 a0001c0001t0004g0071 others(17): Show |
20 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(17): Show |
intron_variant | MODIFIER | c.-3-21385C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99769295 | |||||||
| chr3:99769296 | G | A | 2 | a0001c0001t0003g0149 a0001c0001t0003g0212 |
2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-3-21384G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99769296 | |||||||
| chr3:99769388 | T | C | 166 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(163): Show |
169 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(166): Show |
intron_variant | MODIFIER | c.-3-21292T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99769388 | |||||||
| chr3:99769473 | G | A | 3 | a0001c0001t0001g0004 a0001c0001t0001g0077 a0001c0001t0001g0252 |
4 | HG04184.hp2 NA19063.hp1 NA19074.hp1 others(1): Show |
intron_variant | MODIFIER | c.-3-21207G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99769473 | |||||||
| chr3:99769520 | G | A | 166 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(163): Show |
169 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(166): Show |
intron_variant | MODIFIER | c.-3-21160G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99769520 | |||||||
| chr3:99769664 | T | C | 1 | a0001c0001t0005g0140 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.-3-21016T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99769664 | |||||||
| chr3:99769753 | T | C | 17 | a0001c0001t0004g0012 a0001c0001t0004g0070 a0001c0001t0004g0071 others(14): Show |
17 | HG00438.hp1 HG00735.hp2 HG01074.hp2 others(14): Show |
intron_variant | MODIFIER | c.-3-20927T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99769753 | |||||||
| chr3:99769898 | A | G | 112 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(109): Show |
115 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(112): Show |
intron_variant | MODIFIER | c.-3-20782A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99769898 | |||||||
| chr3:99770364 | A | C | 2 | a0001c0001t0004g0208 a0001c0001t0030g0231 |
2 | HG01891.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.-3-20316A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99770364 | |||||||
| chr3:99770397 | C | T | 2 | a0001c0001t0003g0149 a0001c0001t0003g0212 |
2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-3-20283C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99770397 | |||||||
| chr3:99770553 | T | G | 71 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(68): Show |
74 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(71): Show |
intron_variant | MODIFIER | c.-3-20127T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99770553 | |||||||
| chr3:99770592 | G | C | 5 | a0001c0002t0008g0039 a0001c0002t0008g0040 a0001c0002t0008g0041 others(2): Show |
5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-3-20088G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99770592 | |||||||
| chr3:99770772 | G | A | 1 | a0001c0001t0005g0080 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.-3-19908G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99770772 | |||||||
| chr3:99770921 | C | A | 2 | a0001c0001t0004g0208 a0001c0001t0030g0231 |
2 | HG01891.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.-3-19759C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99770921 | |||||||
| chr3:99770981 | A | G | 112 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(109): Show |
115 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(112): Show |
intron_variant | MODIFIER | c.-3-19699A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99770981 | |||||||
| chr3:99771378 | T | G | 3 | a0001c0001t0003g0088 a0001c0001t0003g0130 a0001c0001t0006g0129 |
3 | NA18971.hp2 NA19004.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.-3-19302T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99771378 | |||||||
| chr3:99771542 | G | A | 3 | a0001c0001t0006g0138 a0001c0001t0006g0151 a0001c0001t0006g0256 |
3 | HG02559.hp2 HG02895.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.-3-19138G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99771542 | |||||||
| chr3:99771574 | C | T | 2 | a0001c0001t0001g0031 a0001c0001t0001g0206 |
2 | HG00735.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.-3-19106C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99771574 | |||||||
| chr3:99771735 | T | C | 1 | a0001c0001t0005g0019 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.-3-18945T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99771735 | |||||||
| chr3:99771792 | C | A | 2 | a0001c0001t0017g0086 a0001c0003t0022g0011 |
2 | HG02257.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.-3-18888C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99771792 | |||||||
| chr3:99771838 | G | A | 1 | a0001c0001t0002g0125 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-3-18842G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99771838 | |||||||
| chr3:99772031 | C | G | 18 | a0001c0001t0004g0012 a0001c0001t0004g0070 a0001c0001t0004g0071 others(15): Show |
18 | HG00735.hp2 HG01074.hp2 HG01109.hp1 others(15): Show |
intron_variant | MODIFIER | c.-3-18649C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99772031 | |||||||
| chr3:99772121 | T | C | 2 | a0001c0001t0003g0149 a0001c0001t0003g0212 |
2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-3-18559T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99772121 | |||||||
| chr3:99772141 | T | C | 4 | a0001c0001t0005g0059 a0001c0001t0005g0090 a0001c0001t0005g0091 others(1): Show |
4 | HG00741.hp1 HG01256.hp1 HG02738.hp1 others(1): Show |
intron_variant | MODIFIER | c.-3-18539T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99772141 | |||||||
| chr3:99772147 | C | T | 4 | a0001c0001t0004g0208 a0001c0001t0017g0086 a0001c0001t0030g0231 others(1): Show |
4 | HG01891.hp2 HG02257.hp1 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.-3-18533C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99772147 | |||||||
| chr3:99772554 | T | C | 18 | a0001c0001t0004g0012 a0001c0001t0004g0070 a0001c0001t0004g0071 others(15): Show |
18 | HG00735.hp2 HG01074.hp2 HG01109.hp1 others(15): Show |
intron_variant | MODIFIER | c.-3-18126T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99772554 | |||||||
| chr3:99772653 | C | A | 54 | a0001c0001t0003g0032 a0001c0001t0003g0050 a0001c0001t0003g0084 others(51): Show |
54 | HG00544.hp2 HG00597.hp1 HG00639.hp1 others(51): Show |
intron_variant | MODIFIER | c.-3-18027C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99772653 | |||||||
| chr3:99772664 | A | G | 112 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(109): Show |
115 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(112): Show |
intron_variant | MODIFIER | c.-3-18016A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99772664 | |||||||
| chr3:99772907 | G | A | 11 | a0001c0001t0001g0095 a0001c0001t0002g0131 a0001c0001t0002g0132 others(8): Show |
11 | HG00280.hp1 HG02027.hp2 HG02083.hp1 others(8): Show |
intron_variant | MODIFIER | c.-3-17773G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99772907 | |||||||
| chr3:99773013 | G | T | 1 | a0001c0001t0001g0043 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.-3-17667G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773013 | |||||||
| chr3:99773207 | T | C | 3 | a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0215 |
3 | HG03654.hp2 HG03704.hp1 HG03834.hp1 |
intron_variant | MODIFIER | c.-3-17473T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773207 | |||||||
| chr3:99773208 | A | G | 1 | a0001c0001t0005g0140 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.-3-17472A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773208 | |||||||
| chr3:99773249 | T | C | 18 | a0001c0001t0004g0012 a0001c0001t0004g0070 a0001c0001t0004g0071 others(15): Show |
18 | HG00735.hp2 HG01074.hp2 HG01109.hp1 others(15): Show |
intron_variant | MODIFIER | c.-3-17431T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773249 | |||||||
| chr3:99773335 | C | T | 1 | a0001c0001t0006g0207 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.-3-17345C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773335 | |||||||
| chr3:99773412 | C | T | 1 | a0001c0001t0002g0232 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.-3-17268C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773412 | |||||||
| chr3:99773539 | C | G | 112 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(109): Show |
115 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(112): Show |
intron_variant | MODIFIER | c.-3-17141C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773539 | |||||||
| chr3:99773602 | A | G | 1 | a0001c0001t0005g0024 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-3-17078A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773602 | |||||||
| chr3:99773690 | G | T | 1 | a0001c0001t0005g0024 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-3-16990G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773690 | |||||||
| chr3:99773815 | G | GTA | 3 | a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0014g0079 |
3 | HG00438.hp1 NA18943.hp1 NA18973.hp2 |
intron_variant | MODIFIER | c.-3-16843_-3-16842d others(4): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773815 | ||||||
| chr3:99773815 | G | GTATATAT others(18): Show |
25 | a0001c0001t0001g0009 a0001c0001t0001g0053 a0001c0001t0001g0054 others(22): Show |
26 | HG00140.hp2 HG01109.hp2 HG01175.hp2 others(23): Show |
intron_variant | MODIFIER | c.-3-16842_-3-16841i others(27): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773815 | ||||||
| chr3:99773815 | G | GTATATAT others(20): Show |
6 | a0001c0001t0001g0004 a0001c0001t0001g0100 a0001c0001t0001g0120 others(3): Show |
7 | HG00544.hp1 HG00558.hp2 HG01978.hp2 others(4): Show |
intron_variant | MODIFIER | c.-3-16842_-3-16841i others(29): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773815 | ||||||
| chr3:99773815 | G | GTATATAT others(22): Show |
2 | a0001c0001t0001g0048 a0001c0001t0001g0051 |
2 | HG01891.hp1 HG02717.hp2 |
intron_variant | MODIFIER | c.-3-16842_-3-16841i others(31): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773815 | ||||||
| chr3:99773815 | G | GTATATAT others(22): Show |
3 | a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0007t0001g0082 |
3 | HG02602.hp1 HG03669.hp1 NA18943.hp2 |
intron_variant | MODIFIER | c.-3-16842_-3-16841i others(31): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773815 | ||||||
| chr3:99773815 | G | GTATATAT others(20): Show |
12 | a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 others(9): Show |
12 | HG00280.hp2 HG00639.hp2 HG01071.hp2 others(9): Show |
intron_variant | MODIFIER | c.-3-16842_-3-16841i others(29): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773815 | ||||||
| chr3:99773815 | G | GTATATAT others(24): Show |
1 | a0001c0001t0001g0225 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(33): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773815 | ||||||
| chr3:99773815 | G | GTATATAT others(26): Show |
1 | a0001c0001t0001g0062 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(35): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773815 | ||||||
| chr3:99773815 | G | GTATATAT others(43): Show |
1 | a0001c0001t0009g0257 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(52): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773815 | ||||||
| chr3:99773815 | G | GTGTATAT others(9): Show |
1 | a0001c0001t0017g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-3-16864_-3-16863i others(18): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773815 | ||||||
| chr3:99773815 | G | GTGTATAT others(18): Show |
1 | a0001c0001t0001g0118 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.-3-16864_-3-16863i others(27): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773815 | ||||||
| chr3:99773817 | A | ATATATAT others(16): Show |
2 | a0001c0001t0001g0034 a0001c0001t0001g0178 |
2 | HG02922.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.-3-16842_-3-16841i others(25): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773817 | ||||||
| chr3:99773817 | A | G | 5 | a0001c0001t0001g0095 a0001c0001t0006g0156 a0001c0001t0010g0141 others(2): Show |
5 | HG01074.hp2 HG02083.hp2 HG02280.hp1 others(2): Show |
intron_variant | MODIFIER | c.-3-16863A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773817 | |||||||
| chr3:99773819 | A | ATATATAT others(14): Show |
1 | a0001c0001t0004g0201 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(23): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773819 | ||||||
| chr3:99773821 | A | ATATATAT others(6): Show |
5 | a0001c0002t0008g0039 a0001c0002t0008g0040 a0001c0002t0008g0041 others(2): Show |
5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-3-16858_-3-16846d others(15): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773821 | ||||||
| chr3:99773835 | A | AT | 14 | a0001c0001t0003g0088 a0001c0001t0003g0130 a0001c0001t0003g0133 others(11): Show |
14 | HG01257.hp1 HG01258.hp1 HG01978.hp1 others(11): Show |
intron_variant | MODIFIER | c.-3-16844dupT | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773835 | ||||||
| chr3:99773835 | A | ATTATATA others(11): Show |
1 | a0001c0001t0001g0223 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.-3-16844_-3-16843i others(20): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773835 | ||||||
| chr3:99773835 | A | ATTATATA others(12): Show |
1 | a0001c0001t0001g0218 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.-3-16844_-3-16843i others(21): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773835 | ||||||
| chr3:99773835 | A | ATTATATA others(13): Show |
1 | a0001c0001t0001g0230 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.-3-16844_-3-16843i others(22): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773835 | ||||||
| chr3:99773835 | A | T | 2 | a0001c0001t0003g0050 a0001c0001t0003g0258 |
2 | HG02818.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.-3-16845A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773835 | |||||||
| chr3:99773836 | TA | T | 6 | a0001c0001t0001g0031 a0001c0001t0001g0206 a0001c0001t0001g0216 others(3): Show |
6 | HG00735.hp1 HG02886.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.-3-16843delA | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773836 | |||||||
| chr3:99773837 | A | AT | 11 | a0001c0001t0002g0160 a0001c0001t0002g0250 a0001c0001t0003g0128 others(8): Show |
11 | HG00544.hp2 HG01934.hp1 HG02083.hp1 others(8): Show |
intron_variant | MODIFIER | c.-3-16818dupT | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | ||||||
| chr3:99773837 | A | ATATATAT others(12): Show |
1 | a0001c0001t0004g0076 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(21): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | ||||||
| chr3:99773837 | A | ATATATAT others(14): Show |
1 | a0001c0001t0004g0073 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(23): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | ||||||
| chr3:99773837 | A | ATATATAT others(21): Show |
1 | a0001c0001t0004g0121 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(30): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | ||||||
| chr3:99773837 | A | ATATATAT others(19): Show |
1 | a0001c0001t0004g0214 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(28): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | ||||||
| chr3:99773837 | A | ATATATAT others(13): Show |
2 | a0001c0001t0004g0070 a0001c0001t0004g0204 |
2 | HG01109.hp1 NA19074.hp2 |
intron_variant | MODIFIER | c.-3-16842_-3-16841i others(22): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | ||||||
| chr3:99773837 | A | ATATATAT others(14): Show |
1 | a0001c0001t0011g0047 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(23): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | ||||||
| chr3:99773837 | A | ATATATAT others(11): Show |
2 | a0001c0001t0004g0012 a0001c0001t0004g0074 |
2 | HG00735.hp2 HG02129.hp1 |
intron_variant | MODIFIER | c.-3-16842_-3-16841i others(20): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | ||||||
| chr3:99773837 | A | ATATATAT others(12): Show |
1 | a0001c0001t0004g0071 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(21): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | ||||||
| chr3:99773837 | A | ATATATAT others(13): Show |
1 | a0001c0001t0004g0078 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(22): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | ||||||
| chr3:99773837 | A | ATATATAT others(14): Show |
1 | a0001c0001t0010g0159 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(23): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | ||||||
| chr3:99773837 | A | ATATATAT others(16): Show |
1 | a0001c0001t0010g0142 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(25): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | ||||||
| chr3:99773837 | A | ATATATAT others(10): Show |
1 | a0001c0001t0011g0005 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(19): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | ||||||
| chr3:99773837 | A | ATATATAT others(11): Show |
1 | a0001c0001t0004g0158 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(20): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | ||||||
| chr3:99773837 | A | ATATATAT others(13): Show |
1 | a0001c0004t0004g0254 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(22): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | ||||||
| chr3:99773837 | A | ATATATAT others(16): Show |
1 | a0001c0001t0010g0141 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(25): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | ||||||
| chr3:99773837 | A | ATATATAT others(8): Show |
1 | a0001c0001t0030g0231 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(17): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | ||||||
| chr3:99773837 | A | ATATATAT others(6): Show |
1 | a0001c0001t0004g0208 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(15): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | ||||||
| chr3:99773837 | A | ATATATAT others(23): Show |
1 | a0001c0001t0001g0234 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(32): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | ||||||
| chr3:99773837 | A | ATATATTA others(21): Show |
1 | a0001c0001t0001g0243 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(30): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | ||||||
| chr3:99773837 | A | ATATATTA others(22): Show |
1 | a0001c0001t0001g0114 | 1 | NA19001.hp1 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(31): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | ||||||
| chr3:99773837 | A | ATATATTA others(22): Show |
2 | a0001c0001t0013g0020 a0001c0001t0013g0021 |
2 | HG02886.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.-3-16842_-3-16841i others(31): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | ||||||
| chr3:99773837 | A | ATATTATA others(19): Show |
3 | a0001c0001t0001g0023 a0001c0001t0001g0117 a0001c0001t0001g0237 |
3 | HG03831.hp1 NA18953.hp2 NA18983.hp1 |
intron_variant | MODIFIER | c.-3-16842_-3-16841i others(28): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | ||||||
| chr3:99773837 | A | ATATTATA others(21): Show |
3 | a0001c0001t0001g0067 a0001c0001t0001g0085 a0001c0001t0001g0162 |
3 | HG01175.hp1 HG02145.hp2 NA18953.hp1 |
intron_variant | MODIFIER | c.-3-16842_-3-16841i others(30): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | ||||||
| chr3:99773837 | A | ATATTATA others(22): Show |
1 | a0001c0001t0025g0017 | 1 | NA18981.hp2 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(31): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | ||||||
| chr3:99773837 | A | ATATTATA others(23): Show |
1 | a0001c0001t0001g0016 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(32): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | ||||||
| chr3:99773837 | A | ATATTATA others(20): Show |
1 | a0001c0001t0001g0030 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(29): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | ||||||
| chr3:99773837 | A | ATATTATA others(21): Show |
1 | a0001c0001t0001g0165 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(30): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | ||||||
| chr3:99773837 | A | ATATTATA others(22): Show |
1 | a0001c0001t0001g0029 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(31): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | ||||||
| chr3:99773837 | A | ATATTATA others(18): Show |
2 | a0001c0001t0001g0107 a0001c0001t0001g0174 |
2 | HG01069.hp1 NA18983.hp2 |
intron_variant | MODIFIER | c.-3-16842_-3-16841i others(27): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | ||||||
| chr3:99773837 | A | ATATTATA others(42): Show |
1 | a0001c0001t0001g0013 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(51): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | ||||||
| chr3:99773837 | A | ATATTATA others(41): Show |
1 | a0001c0001t0001g0022 | 1 | NA19075.hp2 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(50): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | ||||||
| chr3:99773837 | A | ATATTATA others(19): Show |
1 | a0001c0001t0001g0006 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(28): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | ||||||
| chr3:99773837 | A | ATATTATA others(17): Show |
1 | a0001c0001t0001g0108 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(26): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | ||||||
| chr3:99773837 | A | ATATTATA others(18): Show |
1 | a0001c0001t0001g0043 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(27): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | ||||||
| chr3:99773837 | A | ATT | 7 | a0001c0001t0003g0084 a0001c0001t0003g0150 a0001c0001t0003g0186 others(4): Show |
7 | HG00597.hp1 HG02896.hp1 HG02896.hp2 others(4): Show |
intron_variant | MODIFIER | c.-3-16819_-3-16818d others(4): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | ||||||
| chr3:99773837 | A | ATTATATA others(17): Show |
1 | a0001c0001t0001g0097 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.-3-16841_-3-16840i others(26): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | ||||||
| chr3:99773837 | A | ATTATATA others(43): Show |
1 | a0001c0001t0009g0052 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.-3-16841_-3-16840i others(52): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | ||||||
| chr3:99773837 | A | ATTATATA others(14): Show |
1 | a0001c0001t0004g0157 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.-3-16841_-3-16840i others(23): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | ||||||
| chr3:99773837 | A | T | 32 | a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0230 others(29): Show |
32 | HG01257.hp1 HG01258.hp1 HG01952.hp2 others(29): Show |
intron_variant | MODIFIER | c.-3-16843A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773837 | |||||||
| chr3:99773837 | AT | A | 14 | a0001c0001t0001g0122 a0001c0001t0001g0199 a0001c0001t0001g0209 others(11): Show |
14 | HG00323.hp1 HG00323.hp2 HG01516.hp1 others(11): Show |
intron_variant | MODIFIER | c.-3-16818delT | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773837 | ||||||
| chr3:99773838 | T | TA | 3 | a0001c0001t0001g0055 a0001c0001t0002g0177 a0001c0001t0003g0185 |
3 | HG02027.hp1 HG03492.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.-3-16842_-3-16841i others(3): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773838 | |||||||
| chr3:99773838 | T | TATAATAT others(17): Show |
2 | a0001c0001t0001g0235 a0001c0001t0001g0236 |
2 | HG02809.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.-3-16842_-3-16841i others(26): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773838 | |||||||
| chr3:99773838 | T | TATATATA others(8): Show |
1 | a0001c0003t0022g0011 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(17): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773838 | |||||||
| chr3:99773838 | T | TATATTAT others(19): Show |
1 | a0001c0001t0001g0175 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(28): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773838 | |||||||
| chr3:99773838 | T | TATATTAT others(21): Show |
1 | a0001c0001t0001g0153 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(30): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773838 | |||||||
| chr3:99773838 | T | TATTATAT others(17): Show |
6 | a0001c0001t0001g0044 a0001c0001t0001g0101 a0001c0001t0001g0102 others(3): Show |
6 | HG01169.hp2 HG02080.hp1 NA18906.hp1 others(3): Show |
intron_variant | MODIFIER | c.-3-16842_-3-16841i others(26): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773838 | |||||||
| chr3:99773838 | T | TATTATAT others(19): Show |
6 | a0001c0001t0001g0002 a0001c0001t0001g0060 a0001c0001t0001g0068 others(3): Show |
7 | HG00558.hp1 HG01168.hp1 HG01169.hp1 others(4): Show |
intron_variant | MODIFIER | c.-3-16842_-3-16841i others(28): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773838 | |||||||
| chr3:99773838 | T | TATTATAT others(40): Show |
1 | a0001c0001t0009g0222 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.-3-16842_-3-16841i others(49): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773838 | |||||||
| chr3:99773838 | T | TTATATAT others(17): Show |
1 | a0001c0001t0001g0033 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.-3-16841_-3-16840i others(26): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99773838 | ||||||
| chr3:99773839 | T | A | 26 | a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0143 others(23): Show |
26 | HG00438.hp1 HG00438.hp2 HG00738.hp2 others(23): Show |
intron_variant | MODIFIER | c.-3-16841T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773839 | |||||||
| chr3:99773839 | T | TATATATA others(16): Show |
1 | a0001c0001t0001g0008 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.-3-16841_-3-16840i others(25): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773839 | |||||||
| chr3:99773840 | T | A | 7 | a0001c0001t0001g0122 a0001c0001t0001g0175 a0001c0001t0001g0199 others(4): Show |
7 | HG00323.hp1 HG01516.hp1 HG02257.hp1 others(4): Show |
intron_variant | MODIFIER | c.-3-16840T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773840 | |||||||
| chr3:99773841 | T | A | 5 | a0001c0001t0002g0132 a0001c0001t0005g0014 a0001c0001t0005g0024 others(2): Show |
5 | HG00597.hp2 HG01346.hp2 HG02735.hp2 others(2): Show |
intron_variant | MODIFIER | c.-3-16839T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773841 | |||||||
| chr3:99773842 | T | A | 2 | a0001c0001t0001g0199 a0001c0003t0022g0011 |
2 | HG00323.hp1 HG02257.hp1 |
intron_variant | MODIFIER | c.-3-16838T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773842 | |||||||
| chr3:99773843 | T | A | 1 | a0001c0001t0017g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-3-16837T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773843 | |||||||
| chr3:99773844 | T | A | 1 | a0001c0003t0022g0011 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.-3-16836T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773844 | |||||||
| chr3:99773845 | T | A | 1 | a0001c0001t0017g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-3-16835T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773845 | |||||||
| chr3:99773846 | T | A | 1 | a0001c0003t0022g0011 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.-3-16834T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773846 | |||||||
| chr3:99773868 | C | T | 1 | a0001c0003t0029g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-3-16812C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773868 | |||||||
| chr3:99773989 | C | T | 1 | a0001c0003t0022g0011 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.-3-16691C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99773989 | |||||||
| chr3:99774025 | A | T | 1 | a0001c0001t0002g0177 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.-3-16655A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99774025 | |||||||
| chr3:99774129 | G | A | 3 | a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0215 |
3 | HG03654.hp2 HG03704.hp1 HG03834.hp1 |
intron_variant | MODIFIER | c.-3-16551G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99774129 | |||||||
| chr3:99774152 | C | T | 2 | a0001c0001t0013g0020 a0001c0001t0013g0021 |
2 | HG02886.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.-3-16528C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99774152 | |||||||
| chr3:99774215 | C | T | 1 | a0001c0003t0029g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-3-16465C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99774215 | |||||||
| chr3:99774321 | A | C | 112 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(109): Show |
115 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(112): Show |
intron_variant | MODIFIER | c.-3-16359A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99774321 | |||||||
| chr3:99774375 | G | T | 18 | a0001c0001t0004g0012 a0001c0001t0004g0070 a0001c0001t0004g0071 others(15): Show |
18 | HG00735.hp2 HG01074.hp2 HG01109.hp1 others(15): Show |
intron_variant | MODIFIER | c.-3-16305G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99774375 | |||||||
| chr3:99774380 | G | C | 15 | a0001c0001t0004g0012 a0001c0001t0004g0070 a0001c0001t0004g0071 others(12): Show |
15 | HG00735.hp2 HG01074.hp2 HG01109.hp1 others(12): Show |
intron_variant | MODIFIER | c.-3-16300G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99774380 | |||||||
| chr3:99774389 | G | A | 4 | a0001c0001t0006g0207 a0001c0001t0006g0210 a0001c0001t0006g0211 others(1): Show |
4 | HG00639.hp1 HG02818.hp1 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.-3-16291G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99774389 | |||||||
| chr3:99774574 | T | A | 2 | a0001c0001t0017g0086 a0001c0003t0022g0011 |
2 | HG02257.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.-3-16106T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99774574 | |||||||
| chr3:99774786 | G | A | 8 | a0001c0001t0001g0031 a0001c0001t0001g0055 a0001c0001t0001g0122 others(5): Show |
8 | HG00735.hp1 HG01516.hp1 HG01975.hp2 others(5): Show |
intron_variant | MODIFIER | c.-3-15894G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99774786 | |||||||
| chr3:99774846 | GAATT | G | 44 | a0001c0001t0003g0032 a0001c0001t0003g0050 a0001c0001t0003g0084 others(41): Show |
44 | HG00544.hp2 HG00597.hp1 HG01257.hp1 others(41): Show |
intron_variant | MODIFIER | c.-3-15826_-3-15823d others(6): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99774846 | ||||||
| chr3:99774964 | C | G | 1 | a0001c0001t0001g0107 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.-3-15716C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99774964 | |||||||
| chr3:99775050 | T | G | 1 | a0001c0001t0026g0015 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.-3-15630T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99775050 | |||||||
| chr3:99775239 | G | A | 1 | a0001c0001t0006g0156 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.-3-15441G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99775239 | |||||||
| chr3:99775244 | A | C | 1 | a0001c0001t0006g0226 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-3-15436A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99775244 | |||||||
| chr3:99775361 | T | C | 3 | a0001c0001t0011g0005 a0001c0001t0011g0047 a0001c0001t0011g0205 |
3 | HG02809.hp1 HG03209.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.-3-15319T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99775361 | |||||||
| chr3:99775371 | G | A | 18 | a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0005g0014 others(15): Show |
18 | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(15): Show |
intron_variant | MODIFIER | c.-3-15309G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99775371 | |||||||
| chr3:99775386 | C | A | 1 | a0001c0001t0001g0215 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.-3-15294C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99775386 | |||||||
| chr3:99775434 | G | A | 1 | a0001c0001t0001g0147 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.-3-15246G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99775434 | |||||||
| chr3:99775777 | G | A | 1 | a0001c0001t0004g0078 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.-3-14903G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99775777 | |||||||
| chr3:99775813 | A | G | 2 | a0001c0001t0004g0157 a0001c0001t0004g0253 |
2 | HG03209.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.-3-14867A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99775813 | |||||||
| chr3:99775878 | T | C | 8 | a0001c0001t0003g0133 a0001c0001t0003g0152 a0001c0001t0003g0172 others(5): Show |
8 | HG01257.hp1 HG01258.hp1 HG01934.hp1 others(5): Show |
intron_variant | MODIFIER | c.-3-14802T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99775878 | |||||||
| chr3:99776069 | A | T | 1 | a0001c0003t0029g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-3-14611A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99776069 | |||||||
| chr3:99776073 | C | T | 1 | a0001c0003t0029g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-3-14607C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99776073 | |||||||
| chr3:99776160 | T | C | 1 | a0001c0001t0003g0183 | 1 | NA19054.hp2 | intron_variant | MODIFIER | c.-3-14520T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99776160 | |||||||
| chr3:99776271 | G | A | 2 | a0001c0001t0004g0208 a0001c0001t0030g0231 |
2 | HG01891.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.-3-14409G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99776271 | |||||||
| chr3:99776495 | G | A | 1 | a0001c0001t0001g0234 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.-3-14185G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99776495 | |||||||
| chr3:99776578 | A | C | 166 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(163): Show |
169 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(166): Show |
intron_variant | MODIFIER | c.-3-14102A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99776578 | |||||||
| chr3:99776686 | A | G | 1 | a0001c0001t0002g0134 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.-3-13994A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99776686 | |||||||
| chr3:99776723 | T | C | 215 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(212): Show |
218 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(215): Show |
intron_variant | MODIFIER | c.-3-13957T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99776723 | |||||||
| chr3:99776753 | A | G | 21 | a0001c0001t0003g0149 a0001c0001t0003g0212 a0001c0001t0004g0012 others(18): Show |
21 | HG00735.hp2 HG01074.hp2 HG01109.hp1 others(18): Show |
intron_variant | MODIFIER | c.-3-13927A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99776753 | |||||||
| chr3:99776828 | C | A | 1 | a0001c0003t0029g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-3-13852C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99776828 | |||||||
| chr3:99777078 | C | G | 1 | a0001c0001t0002g0018 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.-3-13602C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99777078 | |||||||
| chr3:99777113 | T | C | 1 | a0001c0003t0022g0011 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.-3-13567T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99777113 | |||||||
| chr3:99777146 | G | A | 1 | a0001c0001t0001g0198 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.-3-13534G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99777146 | |||||||
| chr3:99777507 | G | T | 75 | a0001c0001t0003g0032 a0001c0001t0003g0050 a0001c0001t0003g0084 others(72): Show |
75 | HG00544.hp2 HG00597.hp1 HG00639.hp1 others(72): Show |
intron_variant | MODIFIER | c.-3-13173G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99777507 | |||||||
| chr3:99777750 | A | C | 2 | a0001c0001t0001g0096 a0001c0001t0001g0108 |
2 | NA18612.hp2 NA19011.hp1 |
intron_variant | MODIFIER | c.-3-12930A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99777750 | |||||||
| chr3:99777758 | A | G | 1 | a0001c0001t0001g0035 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.-3-12922A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99777758 | |||||||
| chr3:99777765 | C | G | 2 | a0001c0001t0001g0048 a0001c0001t0001g0051 |
2 | HG01891.hp1 HG02717.hp2 |
intron_variant | MODIFIER | c.-3-12915C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99777765 | |||||||
| chr3:99777839 | G | T | 3 | a0001c0001t0011g0005 a0001c0001t0011g0047 a0001c0001t0011g0205 |
3 | HG02809.hp1 HG03209.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.-3-12841G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99777839 | |||||||
| chr3:99778086 | G | A | 2 | a0001c0001t0013g0020 a0001c0001t0013g0021 |
2 | HG02886.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.-3-12594G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99778086 | |||||||
| chr3:99778130 | C | T | 3 | a0001c0001t0006g0138 a0001c0001t0006g0151 a0001c0001t0006g0256 |
3 | HG02559.hp2 HG02895.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.-3-12550C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99778130 | |||||||
| chr3:99778163 | C | T | 1 | a0001c0001t0001g0174 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.-3-12517C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99778163 | |||||||
| chr3:99778264 | G | T | 194 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(191): Show |
197 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(194): Show |
intron_variant | MODIFIER | c.-3-12416G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99778264 | |||||||
| chr3:99778274 | G | A | 4 | a0001c0001t0001g0038 a0001c0001t0001g0103 a0001c0001t0001g0104 others(1): Show |
4 | HG00280.hp2 HG01071.hp2 HG01081.hp2 others(1): Show |
intron_variant | MODIFIER | c.-3-12406G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99778274 | |||||||
| chr3:99778304 | C | T | 186 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(183): Show |
189 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(186): Show |
intron_variant | MODIFIER | c.-3-12376C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99778304 | |||||||
| chr3:99778384 | A | C | 1 | a0001c0001t0004g0208 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-3-12296A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99778384 | |||||||
| chr3:99778616 | T | TA | 15 | a0001c0001t0004g0012 a0001c0001t0004g0070 a0001c0001t0004g0071 others(12): Show |
15 | HG00735.hp2 HG01074.hp2 HG01109.hp1 others(12): Show |
intron_variant | MODIFIER | c.-3-12053dupA | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99778616 | ||||||
| chr3:99778616 | TA | T | 43 | a0001c0001t0001g0038 a0001c0001t0001g0053 a0001c0001t0002g0010 others(40): Show |
43 | HG00544.hp2 HG00597.hp1 HG01257.hp1 others(40): Show |
intron_variant | MODIFIER | c.-3-12053delA | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99778616 | ||||||
| chr3:99778775 | G | A | 2 | a0001c0001t0003g0149 a0001c0001t0003g0212 |
2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-3-11905G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99778775 | |||||||
| chr3:99778869 | C | G | 186 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(183): Show |
189 | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(186): Show |
intron_variant | MODIFIER | c.-3-11811C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99778869 | |||||||
| chr3:99778894 | T | A | 15 | a0001c0001t0004g0012 a0001c0001t0004g0070 a0001c0001t0004g0071 others(12): Show |
15 | HG00735.hp2 HG01074.hp2 HG01109.hp1 others(12): Show |
intron_variant | MODIFIER | c.-3-11786T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99778894 | |||||||
| chr3:99779135 | G | A | 1 | a0001c0001t0007g0025 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.-3-11545G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99779135 | |||||||
| chr3:99779179 | G | C | 1 | a0001c0001t0001g0122 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.-3-11501G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99779179 | |||||||
| chr3:99779288 | G | C | 3 | a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0234 |
3 | HG01891.hp1 HG02717.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.-3-11392G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99779288 | |||||||
| chr3:99779589 | G | A | 21 | a0001c0001t0003g0149 a0001c0001t0003g0212 a0001c0001t0004g0012 others(18): Show |
21 | HG00735.hp2 HG01074.hp2 HG01109.hp1 others(18): Show |
intron_variant | MODIFIER | c.-3-11091G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99779589 | |||||||
| chr3:99779610 | T | C | 4 | a0001c0001t0004g0012 a0001c0001t0004g0076 a0001c0001t0004g0121 others(1): Show |
4 | HG02129.hp1 NA18942.hp1 NA19056.hp2 others(1): Show |
intron_variant | MODIFIER | c.-3-11070T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99779610 | |||||||
| chr3:99779639 | G | A | 2 | a0001c0001t0004g0208 a0001c0001t0030g0231 |
2 | HG01891.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.-3-11041G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99779639 | |||||||
| chr3:99779765 | T | C | 21 | a0001c0001t0003g0149 a0001c0001t0003g0212 a0001c0001t0004g0012 others(18): Show |
21 | HG00735.hp2 HG01074.hp2 HG01109.hp1 others(18): Show |
intron_variant | MODIFIER | c.-3-10915T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99779765 | |||||||
| chr3:99779769 | A | G | 1 | a0001c0001t0017g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-3-10911A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99779769 | |||||||
| chr3:99779810 | G | GT | 23 | a0001c0001t0003g0149 a0001c0001t0003g0212 a0001c0001t0004g0012 others(20): Show |
23 | HG00735.hp2 HG01074.hp2 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.-3-10870_-3-10869i others(3): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99779810 | |||||||
| chr3:99779838 | T | C | 1 | a0001c0003t0022g0011 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.-3-10842T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99779838 | |||||||
| chr3:99780033 | C | T | 7 | a0001c0001t0001g0036 a0001c0001t0001g0098 a0001c0001t0001g0099 others(4): Show |
7 | HG01978.hp2 HG02148.hp1 NA18964.hp2 others(4): Show |
intron_variant | MODIFIER | c.-3-10647C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99780033 | |||||||
| chr3:99780041 | C | G | 53 | a0001c0001t0003g0032 a0001c0001t0003g0050 a0001c0001t0003g0084 others(50): Show |
53 | HG00544.hp2 HG00597.hp1 HG00639.hp1 others(50): Show |
intron_variant | MODIFIER | c.-3-10639C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99780041 | |||||||
| chr3:99780312 | A | G | 3 | a0001c0001t0004g0012 a0001c0001t0004g0076 a0001c0001t0004g0204 |
3 | HG02129.hp1 NA18942.hp1 NA19074.hp2 |
intron_variant | MODIFIER | c.-3-10368A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99780312 | |||||||
| chr3:99780373 | T | C | 56 | a0001c0001t0003g0032 a0001c0001t0003g0050 a0001c0001t0003g0084 others(53): Show |
56 | HG00544.hp2 HG00597.hp1 HG00639.hp1 others(53): Show |
intron_variant | MODIFIER | c.-3-10307T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99780373 | |||||||
| chr3:99780400 | C | T | 2 | a0001c0001t0004g0157 a0001c0001t0004g0253 |
2 | HG03209.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.-3-10280C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99780400 | |||||||
| chr3:99780436 | C | A | 2 | a0001c0001t0004g0208 a0001c0001t0030g0231 |
2 | HG01891.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.-3-10244C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99780436 | |||||||
| chr3:99780617 | C | T | 1 | a0001c0001t0002g0135 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.-3-10063C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99780617 | |||||||
| chr3:99780742 | A | G | 2 | a0001c0001t0003g0149 a0001c0001t0003g0212 |
2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-3-9938A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99780742 | |||||||
| chr3:99780804 | A | G | 1 | a0001c0001t0002g0148 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.-3-9876A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99780804 | |||||||
| chr3:99780838 | C | T | 1 | a0001c0001t0001g0145 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.-3-9842C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99780838 | |||||||
| chr3:99780892 | T | C | 217 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(214): Show |
220 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(217): Show |
intron_variant | MODIFIER | c.-3-9788T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99780892 | |||||||
| chr3:99780907 | T | C | 1 | a0001c0001t0009g0222 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.-3-9773T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99780907 | |||||||
| chr3:99781268 | A | C | 1 | a0001c0001t0001g0122 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.-3-9412A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99781268 | |||||||
| chr3:99781291 | T | C | 1 | a0001c0001t0001g0055 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.-3-9389T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99781291 | |||||||
| chr3:99781498 | G | T | 2 | a0001c0001t0003g0149 a0001c0001t0003g0212 |
2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-3-9182G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99781498 | |||||||
| chr3:99781576 | C | T | 3 | a0001c0001t0006g0046 a0001c0001t0006g0156 a0001c0001t0019g0037 |
3 | HG02280.hp1 HG03139.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.-3-9104C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99781576 | |||||||
| chr3:99781603 | G | A | 16 | a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 others(13): Show |
16 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(13): Show |
intron_variant | MODIFIER | c.-3-9077G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99781603 | |||||||
| chr3:99781679 | G | A | 1 | a0001c0001t0001g0110 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.-3-9001G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99781679 | |||||||
| chr3:99781864 | G | A | 41 | a0001c0001t0003g0032 a0001c0001t0003g0050 a0001c0001t0003g0084 others(38): Show |
41 | HG00544.hp2 HG00597.hp1 HG01257.hp1 others(38): Show |
intron_variant | MODIFIER | c.-3-8816G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99781864 | |||||||
| chr3:99781904 | T | C | 4 | a0001c0001t0011g0005 a0001c0001t0011g0047 a0001c0001t0011g0205 others(1): Show |
4 | HG01891.hp2 HG02809.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.-3-8776T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99781904 | |||||||
| chr3:99782186 | T | C | 1 | a0001c0001t0005g0058 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.-3-8494T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99782186 | |||||||
| chr3:99782246 | G | A | 5 | a0001c0002t0008g0039 a0001c0002t0008g0040 a0001c0002t0008g0041 others(2): Show |
5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-3-8434G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99782246 | |||||||
| chr3:99782252 | T | C | 1 | a0001c0001t0003g0088 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.-3-8428T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99782252 | |||||||
| chr3:99782543 | C | T | 1 | a0001c0001t0001g0099 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.-3-8137C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99782543 | |||||||
| chr3:99782635 | G | A | 2 | a0001c0001t0003g0149 a0001c0001t0003g0212 |
2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.-3-8045G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99782635 | |||||||
| chr3:99782695 | G | T | 116 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(113): Show |
119 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(116): Show |
intron_variant | MODIFIER | c.-3-7985G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99782695 | |||||||
| chr3:99782709 | A | T | 1 | a0001c0001t0006g0229 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.-3-7971A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99782709 | |||||||
| chr3:99782937 | C | CT | 188 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(185): Show |
191 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(188): Show |
intron_variant | MODIFIER | c.-3-7738dupT | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99782937 | ||||||
| chr3:99783111 | T | C | 2 | a0001c0001t0004g0157 a0001c0001t0004g0253 |
2 | HG03209.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.-3-7569T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99783111 | |||||||
| chr3:99783130 | A | G | 2 | a0001c0001t0004g0157 a0001c0001t0004g0253 |
2 | HG03209.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.-3-7550A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99783130 | |||||||
| chr3:99783189 | T | C | 1 | a0001c0001t0006g0228 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.-3-7491T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99783189 | |||||||
| chr3:99783557 | C | T | 2 | a0001c0001t0001g0023 a0001c0001t0001g0030 |
2 | HG02132.hp1 NA18983.hp1 |
intron_variant | MODIFIER | c.-3-7123C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99783557 | |||||||
| chr3:99783736 | G | A | 3 | a0001c0001t0011g0005 a0001c0001t0011g0047 a0001c0001t0011g0205 |
3 | HG02809.hp1 HG03209.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.-3-6944G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99783736 | |||||||
| chr3:99783886 | C | T | 1 | a0001c0001t0030g0231 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.-3-6794C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99783886 | |||||||
| chr3:99784382 | T | C | 2 | a0001c0001t0017g0086 a0001c0003t0022g0011 |
2 | HG02257.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.-3-6298T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99784382 | |||||||
| chr3:99784435 | C | G | 1 | a0001c0001t0001g0244 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.-3-6245C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99784435 | |||||||
| chr3:99784515 | T | A | 214 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(211): Show |
217 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(214): Show |
intron_variant | MODIFIER | c.-3-6165T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99784515 | |||||||
| chr3:99784522 | A | G | 214 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(211): Show |
217 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(214): Show |
intron_variant | MODIFIER | c.-3-6158A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99784522 | |||||||
| chr3:99784884 | A | G | 214 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(211): Show |
217 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(214): Show |
intron_variant | MODIFIER | c.-3-5796A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99784884 | |||||||
| chr3:99784996 | T | G | 6 | a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0230 others(3): Show |
6 | HG02145.hp1 HG02895.hp1 HG03041.hp1 others(3): Show |
intron_variant | MODIFIER | c.-3-5684T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99784996 | |||||||
| chr3:99784997 | G | A | 3 | a0001c0001t0006g0207 a0001c0001t0006g0210 a0001c0001t0006g0211 |
3 | HG00639.hp1 HG02818.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.-3-5683G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99784997 | |||||||
| chr3:99785585 | T | C | 1 | a0001c0001t0006g0219 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-3-5095T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99785585 | |||||||
| chr3:99785745 | G | A | 1 | a0001c0001t0010g0159 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.-3-4935G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99785745 | |||||||
| chr3:99786025 | T | TGAAATGA others(312): Show |
2 | a0001c0001t0011g0005 a0001c0001t0011g0047 |
2 | HG02809.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.-3-4645_-3-4644ins others(319): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99786025 | ||||||
| chr3:99786025 | T | TGAAATGA others(313): Show |
1 | a0001c0001t0011g0205 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.-3-4645_-3-4644ins others(320): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99786025 | ||||||
| chr3:99786036 | T | C | 1 | a0001c0001t0001g0120 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.-3-4644T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99786036 | |||||||
| chr3:99786359 | C | T | 54 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 others(51): Show |
57 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(54): Show |
intron_variant | MODIFIER | c.-3-4321C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99786359 | |||||||
| chr3:99786460 | G | C | 5 | a0001c0002t0008g0039 a0001c0002t0008g0040 a0001c0002t0008g0041 others(2): Show |
5 | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-3-4220G>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99786460 | |||||||
| chr3:99786545 | C | T | 1 | a0001c0001t0014g0079 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.-3-4135C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99786545 | |||||||
| chr3:99786591 | T | A | 20 | a0001c0001t0001g0031 a0001c0001t0001g0055 a0001c0001t0001g0122 others(17): Show |
20 | HG00735.hp1 HG00735.hp2 HG01109.hp1 others(17): Show |
intron_variant | MODIFIER | c.-3-4089T>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99786591 | |||||||
| chr3:99786762 | AGTGTTCA others(4): Show |
A | 4 | a0001c0001t0002g0250 a0001c0001t0017g0086 a0001c0001t0030g0231 others(1): Show |
4 | HG01891.hp2 HG02083.hp1 HG02257.hp1 others(1): Show |
intron_variant | MODIFIER | c.-3-3904_-3-3894del others(11): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99786762 | ||||||
| chr3:99786766 | T | C | 124 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(121): Show |
127 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(124): Show |
intron_variant | MODIFIER | c.-3-3914T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99786766 | |||||||
| chr3:99787007 | T | C | 9 | a0001c0001t0003g0050 a0001c0001t0003g0258 a0001c0001t0007g0025 others(6): Show |
9 | HG01952.hp2 HG02257.hp2 HG02486.hp2 others(6): Show |
intron_variant | MODIFIER | c.-3-3673T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99787007 | |||||||
| chr3:99787211 | T | C | 2 | a0001c0001t0017g0086 a0001c0003t0022g0011 |
2 | HG02257.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.-3-3469T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99787211 | |||||||
| chr3:99787857 | T | TACAC | 167 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(164): Show |
170 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(167): Show |
intron_variant | MODIFIER | c.-3-2808_-3-2805dup others(4): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99787857 | ||||||
| chr3:99787857 | T | TACACAC | 52 | a0001c0001t0003g0032 a0001c0001t0003g0050 a0001c0001t0003g0084 others(49): Show |
52 | HG00544.hp2 HG00597.hp1 HG00639.hp1 others(49): Show |
intron_variant | MODIFIER | c.-3-2810_-3-2805dup others(6): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99787857 | ||||||
| chr3:99787872 | A | C | 1 | a0001c0001t0001g0176 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.-3-2808A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99787872 | |||||||
| chr3:99787874 | A | C | 1 | a0001c0001t0001g0176 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.-3-2806A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99787874 | |||||||
| chr3:99787874 | ACC | A | 4 | a0001c0001t0009g0052 a0001c0001t0011g0005 a0001c0001t0011g0047 others(1): Show |
4 | HG02809.hp1 HG03209.hp1 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.-3-2804_-3-2803del others(2): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99787874 | ||||||
| chr3:99787876 | C | A | 3 | a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0018g0182 |
3 | HG00323.hp1 HG01081.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.-3-2804C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99787876 | |||||||
| chr3:99787878 | A | C | 1 | a0001c0001t0001g0176 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.-3-2802A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99787878 | |||||||
| chr3:99787888 | A | C | 1 | a0001c0001t0009g0052 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.-3-2792A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99787888 | |||||||
| chr3:99787959 | C | T | 4 | a0001c0001t0011g0005 a0001c0001t0011g0047 a0001c0001t0011g0205 others(1): Show |
4 | HG01891.hp2 HG02809.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.-3-2721C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99787959 | |||||||
| chr3:99788054 | T | C | 2 | a0001c0001t0017g0086 a0001c0003t0022g0011 |
2 | HG02257.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.-3-2626T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99788054 | |||||||
| chr3:99788268 | G | T | 1 | a0001c0001t0001g0153 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.-3-2412G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99788268 | |||||||
| chr3:99788410 | T | C | 214 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(211): Show |
217 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(214): Show |
intron_variant | MODIFIER | c.-3-2270T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99788410 | |||||||
| chr3:99788444 | A | G | 2 | a0001c0001t0017g0086 a0001c0003t0022g0011 |
2 | HG02257.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.-3-2236A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99788444 | |||||||
| chr3:99788696 | G | A | 4 | a0001c0001t0011g0005 a0001c0001t0011g0047 a0001c0001t0011g0205 others(1): Show |
4 | HG01891.hp2 HG02809.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.-3-1984G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99788696 | |||||||
| chr3:99789090 | G | A | 195 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(192): Show |
198 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(195): Show |
intron_variant | MODIFIER | c.-3-1590G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99789090 | |||||||
| chr3:99789155 | C | A | 1 | a0001c0001t0002g0232 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.-3-1525C>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99789155 | |||||||
| chr3:99789195 | G | T | 4 | a0001c0001t0011g0005 a0001c0001t0011g0047 a0001c0001t0011g0205 others(1): Show |
4 | HG01891.hp2 HG02809.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.-3-1485G>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99789195 | |||||||
| chr3:99789390 | C | T | 3 | a0001c0001t0011g0005 a0001c0001t0011g0047 a0001c0001t0011g0205 |
3 | HG02809.hp1 HG03209.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.-3-1290C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99789390 | |||||||
| chr3:99789484 | A | G | 4 | a0001c0001t0011g0005 a0001c0001t0011g0047 a0001c0001t0011g0205 others(1): Show |
4 | HG01891.hp2 HG02809.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.-3-1196A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99789484 | |||||||
| chr3:99789845 | C | G | 4 | a0001c0001t0011g0005 a0001c0001t0011g0047 a0001c0001t0011g0205 others(1): Show |
4 | HG01891.hp2 HG02809.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.-3-835C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99789845 | |||||||
| chr3:99789846 | T | G | 1 | a0001c0003t0022g0011 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.-3-834T>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99789846 | |||||||
| chr3:99789922 | A | G | 4 | a0001c0001t0011g0005 a0001c0001t0011g0047 a0001c0001t0011g0205 others(1): Show |
4 | HG01891.hp2 HG02809.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.-3-758A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99789922 | |||||||
| chr3:99789924 | T | C | 196 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(193): Show |
199 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(196): Show |
intron_variant | MODIFIER | c.-3-756T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99789924 | |||||||
| chr3:99789993 | T | C | 1 | a0001c0001t0014g0079 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.-3-687T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99789993 | |||||||
| chr3:99790377 | A | G | 1 | a0001c0001t0001g0107 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.-3-303A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99790377 | |||||||
| chr3:99790525 | T | C | 1 | a0001c0001t0030g0231 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.-3-155T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99790525 | |||||||
| chr3:99790530 | A | AG | 4 | a0001c0001t0011g0005 a0001c0001t0011g0047 a0001c0001t0011g0205 others(1): Show |
4 | HG01891.hp2 HG02809.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.-3-149dupG | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | 99790530 | ||||||
| chr3:99790597 | T | C | 1 | a0001c0001t0002g0232 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.-3-83T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | 99790597 | |||||||
| chr3:99791265 | T | C | 3 | a0001c0001t0011g0005 a0001c0001t0011g0047 a0001c0001t0011g0205 |
3 | HG02809.hp1 HG03209.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.328+255T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 3/3 | chr3 | 99791265 | |||||||
| chr3:99791464 | G | A | 1 | a0001c0001t0001g0102 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.328+454G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 3/3 | chr3 | 99791464 | |||||||
| chr3:99791745 | C | T | 16 | a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 others(13): Show |
16 | HG00544.hp2 HG00597.hp1 HG02027.hp1 others(13): Show |
intron_variant | MODIFIER | c.328+735C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 3/3 | chr3 | 99791745 | |||||||
| chr3:99792104 | G | A | 1 | a0001c0001t0001g0176 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.328+1094G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 3/3 | chr3 | 99792104 | |||||||
| chr3:99792188 | G | A | 8 | a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0080 others(5): Show |
8 | HG00738.hp2 HG00741.hp1 HG01256.hp1 others(5): Show |
intron_variant | MODIFIER | c.328+1178G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 3/3 | chr3 | 99792188 | |||||||
| chr3:99792213 | A | G | 1 | a0001c0001t0005g0028 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.328+1203A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 3/3 | chr3 | 99792213 | |||||||
| chr3:99792579 | T | C | 1 | a0001c0002t0024g0197 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.328+1569T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 3/3 | chr3 | 99792579 | |||||||
| chr3:99792667 | C | T | 1 | a0001c0001t0001g0147 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.329-1563C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 3/3 | chr3 | 99792667 | |||||||
| chr3:99792903 | T | C | 1 | a0001c0003t0029g0213 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.329-1327T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 3/3 | chr3 | 99792903 | |||||||
| chr3:99793125 | C | T | 4 | a0001c0001t0011g0005 a0001c0001t0011g0047 a0001c0001t0011g0205 others(1): Show |
4 | HG01891.hp2 HG02809.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.329-1105C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 3/3 | chr3 | 99793125 | |||||||
| chr3:99793166 | G | A | 3 | a0001c0001t0011g0005 a0001c0001t0011g0047 a0001c0001t0011g0205 |
3 | HG02809.hp1 HG03209.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.329-1064G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 3/3 | chr3 | 99793166 | |||||||
| chr3:99793203 | T | C | 1 | a0001c0001t0002g0132 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.329-1027T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 3/3 | chr3 | 99793203 | |||||||
| chr3:99793317 | T | C | 2 | a0001c0001t0001g0013 a0001c0001t0001g0022 |
2 | NA19075.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.329-913T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 3/3 | chr3 | 99793317 | |||||||
| chr3:99793345 | C | T | 1 | a0001c0001t0004g0208 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.329-885C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 3/3 | chr3 | 99793345 | |||||||
| chr3:99793405 | A | T | 19 | a0001c0001t0001g0031 a0001c0001t0001g0055 a0001c0001t0001g0122 others(16): Show |
19 | HG00735.hp1 HG00735.hp2 HG01109.hp1 others(16): Show |
intron_variant | MODIFIER | c.329-825A>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 3/3 | chr3 | 99793405 | |||||||
| chr3:99793436 | T | TAC | 28 | a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0016 others(25): Show |
28 | HG00558.hp1 HG00639.hp2 HG01168.hp1 others(25): Show |
intron_variant | MODIFIER | c.329-772_329-771dup others(2): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr3 | 99793436 | ||||||
| chr3:99793436 | TAC | T | 71 | a0001c0001t0001g0031 a0001c0001t0001g0055 a0001c0001t0001g0122 others(68): Show |
71 | HG00639.hp1 HG00735.hp1 HG00735.hp2 others(68): Show |
intron_variant | MODIFIER | c.329-772_329-771del others(2): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr3 | 99793436 | ||||||
| chr3:99793764 | C | T | 196 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(193): Show |
199 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(196): Show |
intron_variant | MODIFIER | c.329-466C>T | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 3/3 | chr3 | 99793764 | |||||||
| chr3:99793821 | A | G | 196 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(193): Show |
199 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(196): Show |
intron_variant | MODIFIER | c.329-409A>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 3/3 | chr3 | 99793821 | |||||||
| chr3:99793844 | T | C | 214 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(211): Show |
217 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(214): Show |
intron_variant | MODIFIER | c.329-386T>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 3/3 | chr3 | 99793844 | |||||||
| chr3:99793865 | C | G | 1 | a0001c0001t0017g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.329-365C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 3/3 | chr3 | 99793865 | |||||||
| chr3:99793905 | C | G | 1 | a0001c0001t0005g0126 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.329-325C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 3/3 | chr3 | 99793905 | |||||||
| chr3:99793943 | G | A | 2 | a0001c0001t0003g0149 a0001c0001t0003g0212 |
2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.329-287G>A | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 3/3 | chr3 | 99793943 | |||||||
| chr3:99793969 | C | G | 1 | a0001c0001t0017g0086 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.329-261C>G | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 3/3 | chr3 | 99793969 | |||||||
| chr3:99794153 | A | C | 2 | a0001c0001t0003g0149 a0001c0001t0003g0212 |
2 | HG02615.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.329-77A>C | COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 3/3 | chr3 | 99794153 |