Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 374786 |
| ensemblid | ENSG00000176927.16 |
| hgncid | 24801 |
| symbol | EFCAB5 |
| name | EF-hand calcium binding domain 5 |
| refseq_nuc | NM_198529.4 |
| refseq_prot | NP_940931.3 |
| ensembl_nuc | ENST00000394835.8 |
| ensembl_prot | ENSP00000378312.3 |
| mane_status | MANE Select |
| chr | chr17 |
| start | 29941634 |
| end | 30108452 |
| strand | + |
| ver | v1.2 |
| region | chr17:29941634-30108452 |
| region5000 | chr17:29936634-30113452 |
| regionname0 | EFCAB5_chr17_29941634_30108452 |
| regionname5000 | EFCAB5_chr17_29936634_30113452 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/0 | 1503 | 121 | 39 | 28 | 30 | 7 | 16 | 23 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | MNESA others(1498): Show |
chr17 | 29936634 | 30113452 |
| a0002 | 0/0 | 1503 | 78 | 8 | 25 | 27 | 3 | 15 | 20 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | MNESA others(1498): Show |
chr17 | 29936634 | 30113452 |
| a0003 | 0/0 | 25 | 23 | 18 | 3 | 0 | 2 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | MSQHL others(20): Show |
chr17 | 29936634 | 30113452 |
| a0004 | 0/0 | 1502 | 6 | 6 | 0 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | MNESA others(1497): Show |
chr17 | 29936634 | 30113452 |
| a0005 | 0/0 | 1503 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | MNESA others(1498): Show |
chr17 | 29936634 | 30113452 |
| a0006 | 0/0 | 1503 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | MNESA others(1498): Show |
chr17 | 29936634 | 30113452 |
| a0007 | 0/0 | 950 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | MNESA others(945): Show |
chr17 | 29936634 | 30113452 |
| a0008 | 0/0 | 1503 | 2 | 0 | 2 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | MNESA others(1498): Show |
chr17 | 29936634 | 30113452 |
| a0009 | 0/0 | 1503 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | MNESA others(1498): Show |
chr17 | 29936634 | 30113452 |
| a0010 | 0/0 | 1503 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | MNESA others(1498): Show |
chr17 | 29936634 | 30113452 |
| a0011 | 0/0 | 1503 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | MNESA others(1498): Show |
chr17 | 29936634 | 30113452 |
| a0012 | 0/0 | 1503 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | MNESA others(1498): Show |
chr17 | 29936634 | 30113452 |
| a0013 | 0/0 | 1503 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | MNESA others(1498): Show |
chr17 | 29936634 | 30113452 |
| a0014 | 0/0 | 1503 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | MNESA others(1498): Show |
chr17 | 29936634 | 30113452 |
| a0015 | 0/0 | 1503 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | MNESA others(1498): Show |
chr17 | 29936634 | 30113452 |
| a0016 | 0/1 | 1503 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | MNESA others(1498): Show |
chr17 | 29936634 | 30113452 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 4509 | 117 | 39 | 28 | 29 | 7 | 14 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATGAA others(4504): Show |
chr17 | 29936634 | 30113452 | ||
| a0001c0012 | 0/0 | 4509 | 2 | 0 | 0 | 0 | 0 | 2 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATGAA others(4504): Show |
chr17 | 29936634 | 30113452 | ||
| a0001c0024 | 1/0 | 4509 | 1 | 0 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATGAA others(4504): Show |
chr17 | 29936634 | 30113452 | ||
| a0001c0026 | 0/0 | 4509 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATGAA others(4504): Show |
chr17 | 29936634 | 30113452 | ||
| a0002c0002 | 0/0 | 4509 | 70 | 6 | 25 | 23 | 3 | 13 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATGAA others(4504): Show |
chr17 | 29936634 | 30113452 | ||
| a0002c0005 | 0/0 | 4509 | 4 | 0 | 0 | 3 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATGAA others(4504): Show |
chr17 | 29936634 | 30113452 | ||
| a0002c0016 | 0/0 | 4509 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATGAA others(4504): Show |
chr17 | 29936634 | 30113452 | ||
| a0002c0017 | 0/0 | 4509 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATGAA others(4504): Show |
chr17 | 29936634 | 30113452 | ||
| a0002c0019 | 0/0 | 4509 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATGAA others(4504): Show |
chr17 | 29936634 | 30113452 | ||
| a0002c0020 | 0/0 | 4509 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATGAA others(4504): Show |
chr17 | 29936634 | 30113452 | ||
| a0003c0003 | 0/0 | 4509 | 18 | 13 | 3 | 0 | 2 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATAAA others(4504): Show |
chr17 | 29936634 | 30113452 | ||
| a0003c0006 | 0/0 | 4509 | 3 | 3 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATAAA others(4504): Show |
chr17 | 29936634 | 30113452 | ||
| a0003c0013 | 0/0 | 4509 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATAAA others(4504): Show |
chr17 | 29936634 | 30113452 | ||
| a0003c0014 | 0/0 | 4509 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATAAA others(4504): Show |
chr17 | 29936634 | 30113452 | ||
| a0004c0004 | 0/0 | 4506 | 6 | 6 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATGAA others(4501): Show |
chr17 | 29936634 | 30113452 | ||
| a0005c0007 | 0/0 | 4509 | 3 | 3 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATGAA others(4504): Show |
chr17 | 29936634 | 30113452 | ||
| a0006c0008 | 0/0 | 4509 | 3 | 3 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATGAA others(4504): Show |
chr17 | 29936634 | 30113452 | ||
| a0007c0009 | 0/0 | 4506 | 3 | 3 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATGAA others(4501): Show |
chr17 | 29936634 | 30113452 | ||
| a0008c0010 | 0/0 | 4509 | 2 | 0 | 2 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATGAA others(4504): Show |
chr17 | 29936634 | 30113452 | ||
| a0009c0011 | 0/0 | 4509 | 2 | 2 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATGAA others(4504): Show |
chr17 | 29936634 | 30113452 | ||
| a0010c0023 | 0/0 | 4509 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATGAA others(4504): Show |
chr17 | 29936634 | 30113452 | ||
| a0011c0025 | 0/0 | 4509 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATGAA others(4504): Show |
chr17 | 29936634 | 30113452 | ||
| a0012c0027 | 0/0 | 4509 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATGAA others(4504): Show |
chr17 | 29936634 | 30113452 | ||
| a0013c0021 | 0/0 | 4509 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATGAA others(4504): Show |
chr17 | 29936634 | 30113452 | ||
| a0014c0015 | 0/0 | 4509 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATGAA others(4504): Show |
chr17 | 29936634 | 30113452 | ||
| a0015c0018 | 0/0 | 4509 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATGAA others(4504): Show |
chr17 | 29936634 | 30113452 | ||
| a0016c0022 | 0/1 | 4509 | 1 | 0 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATGAA others(4504): Show |
chr17 | 29936634 | 30113452 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 5103 | 117 | 39 | 28 | 29 | 7 | 14 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATCAT others(5098): Show |
chr17 | 29936634 | 30113452 |
| a0001c0012t0001 | 0/0 | 5103 | 2 | 0 | 0 | 0 | 0 | 2 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATCAT others(5098): Show |
chr17 | 29936634 | 30113452 |
| a0001c0024t0001 | 1/0 | 5103 | 1 | 0 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATCAT others(5098): Show |
chr17 | 29936634 | 30113452 |
| a0001c0026t0004 | 0/0 | 5103 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATCAT others(5098): Show |
chr17 | 29936634 | 30113452 |
| a0002c0002t0002 | 0/0 | 5103 | 69 | 6 | 25 | 22 | 3 | 13 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATCAT others(5098): Show |
chr17 | 29936634 | 30113452 |
| a0002c0002t0003 | 0/0 | 5103 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATCAT others(5098): Show |
chr17 | 29936634 | 30113452 |
| a0002c0005t0002 | 0/0 | 5103 | 4 | 0 | 0 | 3 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATCAT others(5098): Show |
chr17 | 29936634 | 30113452 |
| a0002c0016t0002 | 0/0 | 5103 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATCAT others(5098): Show |
chr17 | 29936634 | 30113452 |
| a0002c0017t0002 | 0/0 | 5103 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATCAT others(5098): Show |
chr17 | 29936634 | 30113452 |
| a0002c0019t0002 | 0/0 | 5103 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATCAT others(5098): Show |
chr17 | 29936634 | 30113452 |
| a0002c0020t0002 | 0/0 | 5103 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATCAT others(5098): Show |
chr17 | 29936634 | 30113452 |
| a0003c0003t0002 | 0/0 | 5103 | 18 | 13 | 3 | 0 | 2 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATCAT others(5098): Show |
chr17 | 29936634 | 30113452 |
| a0003c0006t0002 | 0/0 | 5103 | 3 | 3 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATCAT others(5098): Show |
chr17 | 29936634 | 30113452 |
| a0003c0013t0002 | 0/0 | 5103 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATCAT others(5098): Show |
chr17 | 29936634 | 30113452 |
| a0003c0014t0002 | 0/0 | 5103 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATCAT others(5098): Show |
chr17 | 29936634 | 30113452 |
| a0004c0004t0002 | 0/0 | 5100 | 6 | 6 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATCAT others(5095): Show |
chr17 | 29936634 | 30113452 |
| a0005c0007t0002 | 0/0 | 5103 | 3 | 3 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATCAT others(5098): Show |
chr17 | 29936634 | 30113452 |
| a0006c0008t0002 | 0/0 | 5103 | 3 | 3 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATCAT others(5098): Show |
chr17 | 29936634 | 30113452 |
| a0007c0009t0002 | 0/0 | 5100 | 3 | 3 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATCAT others(5095): Show |
chr17 | 29936634 | 30113452 |
| a0008c0010t0002 | 0/0 | 5103 | 2 | 0 | 2 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATCAT others(5098): Show |
chr17 | 29936634 | 30113452 |
| a0009c0011t0002 | 0/0 | 5103 | 2 | 2 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATCAT others(5098): Show |
chr17 | 29936634 | 30113452 |
| a0010c0023t0001 | 0/0 | 5103 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATCAT others(5098): Show |
chr17 | 29936634 | 30113452 |
| a0011c0025t0001 | 0/0 | 5103 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATCAT others(5098): Show |
chr17 | 29936634 | 30113452 |
| a0012c0027t0002 | 0/0 | 5103 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATCAT others(5098): Show |
chr17 | 29936634 | 30113452 |
| a0013c0021t0002 | 0/0 | 5103 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATCAT others(5098): Show |
chr17 | 29936634 | 30113452 |
| a0014c0015t0002 | 0/0 | 5103 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATCAT others(5098): Show |
chr17 | 29936634 | 30113452 |
| a0015c0018t0002 | 0/0 | 5103 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATCAT others(5098): Show |
chr17 | 29936634 | 30113452 |
| a0016c0022t0001 | 0/1 | 5103 | 1 | 0 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | ATCAT others(5098): Show |
chr17 | 29936634 | 30113452 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0117 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0119 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0121 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0124 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0127 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0146 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0148 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0151 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0152 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0154 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0155 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0156 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0157 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0160 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0162 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0163 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0164 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0165 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0168 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0170 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0171 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0174 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0175 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0176 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0177 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0178 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0180 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0182 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0183 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0184 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0189 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0190 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0191 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0192 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0193 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0194 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0195 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0198 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0199 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0200 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0204 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0206 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0211 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0212 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0218 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0220 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0221 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0222 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0223 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0224 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0225 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0226 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0227 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0228 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0229 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0230 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0231 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0232 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0233 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0234 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0235 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0236 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0237 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0238 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0239 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0240 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0241 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0242 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0243 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0244 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0245 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0246 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0001t0001g0247 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0012t0001g0187 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0012t0001g0196 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0024t0001g0161 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0001c0026t0004g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0001 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0002 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0022 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0024 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0027 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0028 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0029 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0031 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0033 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0034 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0040 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0047 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0049 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0057 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0058 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0060 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0065 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0066 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0069 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0072 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0074 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0075 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0076 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0077 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0081 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0083 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0085 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0086 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0090 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0092 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0096 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0105 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0002g0106 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0002t0003g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0005t0002g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0005t0002g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0005t0002g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0005t0002g0063 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0016t0002g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0017t0002g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0019t0002g0039 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0002c0020t0002g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0003c0003t0002g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0003c0003t0002g0130 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0003c0003t0002g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0003c0003t0002g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0003c0003t0002g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0003c0003t0002g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0003c0003t0002g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0003c0003t0002g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0003c0003t0002g0140 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0003c0003t0002g0141 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0003c0003t0002g0142 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0003c0003t0002g0143 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0003c0003t0002g0144 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0003c0003t0002g0145 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0003c0003t0002g0213 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0003c0003t0002g0214 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0003c0003t0002g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0003c0003t0002g0216 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0003c0006t0002g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0003c0006t0002g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0003c0006t0002g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0003c0013t0002g0217 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0003c0014t0002g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0004c0004t0002g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0004c0004t0002g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0004c0004t0002g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0004c0004t0002g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0004c0004t0002g0100 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0004c0004t0002g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0005c0007t0002g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0005c0007t0002g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0005c0007t0002g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0006c0008t0002g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0006c0008t0002g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0006c0008t0002g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0007c0009t0002g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0007c0009t0002g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0007c0009t0002g0104 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0008c0010t0002g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0008c0010t0002g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0009c0011t0002g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0009c0011t0002g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0010c0023t0001g0172 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0011c0025t0001g0181 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0012c0027t0002g0082 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0013c0021t0002g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0014c0015t0002g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0015c0018t0002g0050 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| a0016c0022t0001g0219 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0001 | t0001 | g0229 | EUR | GBR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG00099 | hp2 | a0002 | c0002 | t0002 | g0058 | EUR | GBR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG00140 | hp1 | a0010 | c0023 | t0001 | g0172 | EUR | GBR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG00140 | hp2 | a0001 | c0001 | t0001 | g0152 | EUR | GBR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG00280 | hp1 | a0002 | c0002 | t0002 | g0027 | EUR | FIN | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG00280 | hp2 | a0001 | c0001 | t0001 | g0221 | EUR | FIN | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG00323 | hp1 | a0002 | c0002 | t0002 | g0024 | EUR | FIN | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG00323 | hp2 | a0001 | c0001 | t0001 | g0222 | EUR | FIN | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG00408 | hp1 | a0001 | c0026 | t0004 | g0159 | EAS | CHS | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG00408 | hp2 | a0002 | c0002 | t0002 | g0070 | EAS | CHS | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG00609 | hp1 | a0002 | c0002 | t0002 | g0053 | EAS | CHS | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG00609 | hp2 | a0001 | c0001 | t0001 | g0173 | EAS | CHS | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG00621 | hp1 | a0002 | c0002 | t0002 | g0089 | EAS | CHS | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG00621 | hp2 | a0001 | c0001 | t0001 | g0011 | EAS | CHS | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG00639 | hp1 | a0002 | c0002 | t0002 | g0001 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG00639 | hp2 | a0001 | c0001 | t0001 | g0212 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG00642 | hp1 | a0001 | c0001 | t0001 | g0218 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG00642 | hp2 | a0002 | c0002 | t0002 | g0092 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG00733 | hp1 | a0002 | c0002 | t0002 | g0001 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG00733 | hp2 | a0001 | c0001 | t0001 | g0191 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG00741 | hp1 | a0003 | c0003 | t0002 | g0144 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG00741 | hp2 | a0002 | c0002 | t0002 | g0029 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG01069 | hp1 | a0002 | c0002 | t0002 | g0073 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG01069 | hp2 | a0001 | c0001 | t0001 | g0125 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG01070 | hp1 | a0001 | c0001 | t0001 | g0224 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG01070 | hp2 | a0002 | c0002 | t0002 | g0105 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG01071 | hp1 | a0001 | c0001 | t0001 | g0242 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG01071 | hp2 | a0001 | c0001 | t0001 | g0124 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG01081 | hp1 | a0001 | c0001 | t0001 | g0151 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG01081 | hp2 | a0002 | c0002 | t0002 | g0034 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG01099 | hp1 | a0008 | c0010 | t0002 | g0093 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG01099 | hp2 | a0001 | c0001 | t0001 | g0244 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG01109 | hp1 | a0001 | c0001 | t0001 | g0127 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG01109 | hp2 | a0002 | c0002 | t0002 | g0032 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG01167 | hp1 | a0001 | c0001 | t0001 | g0240 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG01167 | hp2 | a0002 | c0002 | t0002 | g0106 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG01168 | hp1 | a0001 | c0001 | t0001 | g0190 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG01168 | hp2 | a0002 | c0002 | t0002 | g0077 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG01169 | hp1 | a0001 | c0001 | t0001 | g0241 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG01169 | hp2 | a0002 | c0002 | t0002 | g0076 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG01243 | hp1 | a0001 | c0001 | t0001 | g0121 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG01243 | hp2 | a0003 | c0003 | t0002 | g0143 | AMR | PUR | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG01255 | hp1 | a0001 | c0001 | t0001 | g0239 | AMR | CLM | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG01255 | hp2 | a0002 | c0002 | t0002 | g0067 | AMR | CLM | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG01256 | hp1 | a0002 | c0002 | t0002 | g0071 | AMR | CLM | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG01256 | hp2 | a0001 | c0001 | t0001 | g0223 | AMR | CLM | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG01261 | hp1 | a0002 | c0002 | t0002 | g0033 | AMR | CLM | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG01261 | hp2 | a0001 | c0001 | t0001 | g0165 | AMR | CLM | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG01346 | hp1 | a0002 | c0002 | t0002 | g0030 | AMR | CLM | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG01346 | hp2 | a0001 | c0001 | t0001 | g0117 | AMR | CLM | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG01361 | hp1 | a0001 | c0001 | t0001 | g0195 | AMR | CLM | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG01361 | hp2 | a0008 | c0010 | t0002 | g0094 | AMR | CLM | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG01433 | hp1 | a0003 | c0003 | t0002 | g0130 | AMR | CLM | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG01433 | hp2 | a0002 | c0002 | t0002 | g0069 | AMR | CLM | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG01496 | hp1 | a0001 | c0001 | t0001 | g0231 | AMR | CLM | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG01496 | hp2 | a0002 | c0002 | t0002 | g0031 | AMR | CLM | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG01516 | hp1 | a0003 | c0003 | t0002 | g0140 | EUR | IBS | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG01516 | hp2 | a0001 | c0001 | t0001 | g0200 | EUR | IBS | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG01517 | hp1 | a0001 | c0001 | t0001 | g0189 | EUR | IBS | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG01517 | hp2 | a0003 | c0003 | t0002 | g0141 | EUR | IBS | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG01884 | hp1 | a0003 | c0003 | t0002 | g0214 | AFR | ACB | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG01884 | hp2 | a0001 | c0001 | t0001 | g0183 | AFR | ACB | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG01891 | hp1 | a0009 | c0011 | t0002 | g0020 | AFR | ACB | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG01891 | hp2 | a0001 | c0001 | t0001 | g0177 | AFR | ACB | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG01934 | hp1 | a0002 | c0002 | t0002 | g0095 | AMR | PEL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG01934 | hp2 | a0001 | c0001 | t0001 | g0148 | AMR | PEL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG01952 | hp1 | a0002 | c0002 | t0002 | g0064 | AMR | PEL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG01952 | hp2 | a0001 | c0001 | t0001 | g0164 | AMR | PEL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG01978 | hp1 | a0001 | c0001 | t0001 | g0236 | AMR | PEL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG01978 | hp2 | a0002 | c0002 | t0002 | g0090 | AMR | PEL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG01993 | hp1 | a0002 | c0002 | t0002 | g0022 | AMR | PEL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG01993 | hp2 | a0001 | c0001 | t0001 | g0237 | AMR | PEL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02004 | hp1 | a0001 | c0001 | t0001 | g0234 | AMR | PEL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02004 | hp2 | a0002 | c0002 | t0002 | g0049 | AMR | PEL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02055 | hp1 | a0004 | c0004 | t0002 | g0015 | AFR | ACB | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02055 | hp2 | a0001 | c0001 | t0001 | g0123 | AFR | ACB | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02056 | hp1 | a0001 | c0001 | t0001 | g0007 | EAS | KHV | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02056 | hp2 | a0002 | c0002 | t0002 | g0048 | EAS | KHV | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02074 | hp1 | a0002 | c0002 | t0002 | g0045 | EAS | KHV | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02074 | hp2 | a0001 | c0001 | t0001 | g0201 | EAS | KHV | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02132 | hp1 | a0002 | c0005 | t0002 | g0025 | EAS | KHV | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02132 | hp2 | a0001 | c0001 | t0001 | g0197 | EAS | KHV | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02148 | hp1 | a0002 | c0002 | t0002 | g0081 | AMR | PEL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02148 | hp2 | a0001 | c0001 | t0001 | g0194 | AMR | PEL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02257 | hp1 | a0001 | c0001 | t0001 | g0111 | AFR | ACB | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02257 | hp2 | a0002 | c0002 | t0002 | g0080 | AFR | ACB | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02258 | hp1 | a0005 | c0007 | t0002 | g0138 | AFR | ACB | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02258 | hp2 | a0001 | c0001 | t0001 | g0149 | AFR | ACB | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02273 | hp1 | a0002 | c0002 | t0002 | g0040 | AMR | PEL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02273 | hp2 | a0001 | c0001 | t0001 | g0162 | AMR | PEL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02280 | hp1 | a0002 | c0002 | t0002 | g0068 | AFR | ACB | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02280 | hp2 | a0001 | c0001 | t0001 | g0126 | AFR | ACB | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02451 | hp1 | a0005 | c0007 | t0002 | g0137 | AFR | ACB | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02451 | hp2 | a0009 | c0011 | t0002 | g0021 | AFR | ACB | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02523 | hp1 | a0002 | c0002 | t0002 | g0042 | EAS | KHV | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02523 | hp2 | a0001 | c0001 | t0001 | g0167 | EAS | KHV | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02572 | hp1 | a0002 | c0002 | t0002 | g0051 | AFR | GWD | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02572 | hp2 | a0003 | c0003 | t0002 | g0133 | AFR | GWD | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02615 | hp1 | a0003 | c0003 | t0002 | g0131 | AFR | GWD | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02615 | hp2 | a0002 | c0020 | t0002 | g0019 | AFR | GWD | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02622 | hp1 | a0001 | c0001 | t0001 | g0110 | AFR | GWD | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02622 | hp2 | a0001 | c0001 | t0001 | g0155 | AFR | GWD | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02630 | hp1 | a0002 | c0002 | t0002 | g0023 | AFR | GWD | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02630 | hp2 | a0001 | c0001 | t0001 | g0211 | AFR | GWD | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02647 | hp1 | a0002 | c0002 | t0002 | g0037 | AFR | GWD | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02647 | hp2 | a0001 | c0001 | t0001 | g0109 | AFR | GWD | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02683 | hp1 | a0001 | c0001 | t0001 | g0168 | SAS | PJL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02683 | hp2 | a0002 | c0002 | t0002 | g0086 | SAS | PJL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02698 | hp1 | a0001 | c0001 | t0001 | g0225 | SAS | PJL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02698 | hp2 | a0002 | c0005 | t0002 | g0063 | SAS | PJL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02717 | hp1 | a0001 | c0001 | t0001 | g0154 | AFR | GWD | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02717 | hp2 | a0011 | c0025 | t0001 | g0181 | AFR | GWD | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02723 | hp1 | a0001 | c0001 | t0001 | g0150 | AFR | GWD | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02723 | hp2 | a0006 | c0008 | t0002 | g0017 | AFR | GWD | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02735 | hp1 | a0002 | c0002 | t0002 | g0083 | SAS | PJL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02735 | hp2 | a0001 | c0001 | t0001 | g0193 | SAS | PJL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02738 | hp1 | a0001 | c0012 | t0001 | g0187 | SAS | PJL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02738 | hp2 | a0002 | c0002 | t0002 | g0075 | SAS | PJL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02809 | hp1 | a0001 | c0001 | t0001 | g0146 | AFR | GWD | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02809 | hp2 | a0001 | c0001 | t0001 | g0116 | AFR | GWD | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02895 | hp1 | a0004 | c0004 | t0002 | g0097 | AFR | GWD | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02895 | hp2 | a0003 | c0006 | t0002 | g0003 | AFR | GWD | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02896 | hp1 | a0004 | c0004 | t0002 | g0098 | AFR | GWD | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02896 | hp2 | a0001 | c0001 | t0001 | g0174 | AFR | GWD | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02922 | hp1 | a0003 | c0003 | t0002 | g0213 | AFR | ESN | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02922 | hp2 | a0007 | c0009 | t0002 | g0104 | AFR | ESN | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02965 | hp1 | a0001 | c0001 | t0001 | g0115 | AFR | ESN | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02965 | hp2 | a0003 | c0003 | t0002 | g0216 | AFR | ESN | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02976 | hp1 | a0001 | c0001 | t0001 | g0176 | AFR | ESN | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02976 | hp2 | a0001 | c0001 | t0001 | g0182 | AFR | ESN | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG03017 | hp1 | a0001 | c0001 | t0001 | g0192 | SAS | PJL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG03017 | hp2 | a0012 | c0027 | t0002 | g0082 | SAS | PJL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG03041 | hp1 | a0001 | c0001 | t0001 | g0204 | AFR | GWD | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG03041 | hp2 | a0003 | c0003 | t0002 | g0145 | AFR | GWD | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG03098 | hp1 | a0003 | c0003 | t0002 | g0215 | AFR | MSL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG03098 | hp2 | a0003 | c0003 | t0002 | g0134 | AFR | MSL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG03130 | hp1 | a0004 | c0004 | t0002 | g0100 | AFR | ESN | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG03130 | hp2 | a0013 | c0021 | t0002 | g0012 | AFR | ESN | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG03139 | hp1 | a0001 | c0001 | t0001 | g0160 | AFR | ESN | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG03139 | hp2 | a0001 | c0001 | t0001 | g0108 | AFR | ESN | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG03195 | hp1 | a0007 | c0009 | t0002 | g0102 | AFR | ESN | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG03195 | hp2 | a0001 | c0001 | t0001 | g0175 | AFR | ESN | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG03209 | hp1 | a0003 | c0003 | t0002 | g0135 | AFR | MSL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG03209 | hp2 | a0003 | c0003 | t0002 | g0129 | AFR | MSL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG03225 | hp1 | a0006 | c0008 | t0002 | g0016 | AFR | MSL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG03225 | hp2 | a0001 | c0001 | t0001 | g0247 | AFR | MSL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG03239 | hp1 | a0002 | c0019 | t0002 | g0039 | SAS | PJL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG03239 | hp2 | a0001 | c0001 | t0001 | g0228 | SAS | PJL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG03453 | hp1 | a0004 | c0004 | t0002 | g0099 | AFR | MSL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG03453 | hp2 | a0001 | c0001 | t0001 | g0118 | AFR | MSL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG03486 | hp1 | a0003 | c0014 | t0002 | g0006 | AFR | MSL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG03486 | hp2 | a0003 | c0003 | t0002 | g0142 | AFR | MSL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG03490 | hp1 | a0001 | c0001 | t0001 | g0178 | SAS | PJL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG03490 | hp2 | a0002 | c0002 | t0002 | g0085 | SAS | PJL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG03516 | hp1 | a0005 | c0007 | t0002 | g0136 | AFR | ESN | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG03516 | hp2 | a0001 | c0001 | t0001 | g0180 | AFR | ESN | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG03540 | hp1 | a0003 | c0003 | t0002 | g0132 | AFR | GWD | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG03540 | hp2 | a0001 | c0001 | t0001 | g0119 | AFR | GWD | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG03579 | hp1 | a0001 | c0001 | t0001 | g0207 | AFR | MSL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG03579 | hp2 | a0001 | c0001 | t0001 | g0114 | AFR | MSL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG03669 | hp1 | a0002 | c0002 | t0002 | g0047 | SAS | PJL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG03669 | hp2 | a0001 | c0001 | t0001 | g0184 | SAS | PJL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG03834 | hp1 | a0002 | c0002 | t0002 | g0072 | SAS | BEB | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG03834 | hp2 | a0001 | c0001 | t0001 | g0171 | SAS | BEB | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG03927 | hp1 | a0001 | c0001 | t0001 | g0220 | SAS | BEB | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG03927 | hp2 | a0002 | c0002 | t0002 | g0074 | SAS | BEB | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG03942 | hp1 | a0001 | c0001 | t0001 | g0206 | SAS | BEB | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG03942 | hp2 | a0002 | c0002 | t0002 | g0066 | SAS | BEB | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG04115 | hp1 | a0002 | c0002 | t0002 | g0065 | SAS | STU | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG04115 | hp2 | a0001 | c0001 | t0001 | g0157 | SAS | STU | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG04199 | hp1 | a0001 | c0012 | t0001 | g0196 | SAS | STU | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG04199 | hp2 | a0002 | c0002 | t0002 | g0096 | SAS | STU | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG04204 | hp1 | a0002 | c0002 | t0002 | g0028 | SAS | STU | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG04204 | hp2 | a0001 | c0001 | t0001 | g0156 | SAS | STU | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG04228 | hp1 | a0001 | c0001 | t0001 | g0199 | SAS | STU | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG04228 | hp2 | a0002 | c0002 | t0002 | g0060 | SAS | STU | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA18522 | hp1 | a0002 | c0002 | t0002 | g0036 | AFR | YRI | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA18522 | hp2 | a0001 | c0001 | t0001 | g0153 | AFR | YRI | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA18906 | hp1 | a0003 | c0006 | t0002 | g0004 | AFR | YRI | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA18906 | hp2 | a0001 | c0001 | t0001 | g0113 | AFR | YRI | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA18940 | hp1 | a0002 | c0002 | t0002 | g0088 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA18940 | hp2 | a0001 | c0001 | t0001 | g0166 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA18951 | hp1 | a0001 | c0001 | t0001 | g0233 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA18951 | hp2 | a0002 | c0002 | t0002 | g0043 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA18961 | hp1 | a0002 | c0002 | t0002 | g0061 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA18961 | hp2 | a0001 | c0001 | t0001 | g0232 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA18963 | hp1 | a0001 | c0001 | t0001 | g0243 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA18963 | hp2 | a0002 | c0005 | t0002 | g0038 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA18964 | hp1 | a0001 | c0001 | t0001 | g0235 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA18964 | hp2 | a0002 | c0002 | t0002 | g0013 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA18971 | hp1 | a0001 | c0001 | t0001 | g0008 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA18971 | hp2 | a0002 | c0002 | t0002 | g0055 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA18986 | hp1 | a0002 | c0002 | t0003 | g0052 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA18986 | hp2 | a0001 | c0001 | t0001 | g0185 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA18993 | hp1 | a0001 | c0001 | t0001 | g0245 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA18993 | hp2 | a0002 | c0002 | t0002 | g0062 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA18998 | hp1 | a0001 | c0001 | t0001 | g0188 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA18998 | hp2 | a0002 | c0002 | t0002 | g0041 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA19000 | hp1 | a0002 | c0002 | t0002 | g0091 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA19000 | hp2 | a0001 | c0001 | t0001 | g0203 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA19001 | hp1 | a0001 | c0001 | t0001 | g0010 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA19001 | hp2 | a0001 | c0001 | t0001 | g0208 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA19004 | hp1 | a0002 | c0016 | t0002 | g0014 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA19004 | hp2 | a0001 | c0001 | t0001 | g0209 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA19006 | hp1 | a0002 | c0002 | t0002 | g0044 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA19006 | hp2 | a0001 | c0001 | t0001 | g0246 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA19007 | hp1 | a0001 | c0001 | t0001 | g0186 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA19007 | hp2 | a0002 | c0002 | t0002 | g0046 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA19011 | hp1 | a0001 | c0001 | t0001 | g0147 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA19011 | hp2 | a0002 | c0002 | t0002 | g0079 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA19030 | hp1 | a0002 | c0017 | t0002 | g0035 | AFR | LWK | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA19030 | hp2 | a0001 | c0001 | t0001 | g0128 | AFR | LWK | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA19043 | hp1 | a0001 | c0001 | t0001 | g0107 | AFR | LWK | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA19043 | hp2 | a0001 | c0001 | t0001 | g0205 | AFR | LWK | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA19054 | hp1 | a0001 | c0001 | t0001 | g0238 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA19054 | hp2 | a0002 | c0005 | t0002 | g0059 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA19064 | hp1 | a0014 | c0015 | t0002 | g0078 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA19064 | hp2 | a0001 | c0001 | t0001 | g0158 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA19066 | hp1 | a0001 | c0001 | t0001 | g0009 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA19066 | hp2 | a0002 | c0002 | t0002 | g0084 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA19067 | hp1 | a0002 | c0002 | t0002 | g0087 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA19067 | hp2 | a0001 | c0001 | t0001 | g0210 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA19080 | hp1 | a0001 | c0001 | t0001 | g0227 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA19080 | hp2 | a0002 | c0002 | t0002 | g0056 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA19089 | hp1 | a0002 | c0002 | t0002 | g0026 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA19089 | hp2 | a0001 | c0001 | t0001 | g0179 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA19240 | hp1 | a0007 | c0009 | t0002 | g0103 | AFR | YRI | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA19240 | hp2 | a0001 | c0001 | t0001 | g0202 | AFR | YRI | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA20129 | hp1 | a0003 | c0006 | t0002 | g0005 | AFR | ASW | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA20129 | hp2 | a0001 | c0001 | t0001 | g0163 | AFR | ASW | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA20752 | hp1 | a0001 | c0001 | t0001 | g0226 | EUR | TSI | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA20752 | hp2 | a0015 | c0018 | t0002 | g0050 | EUR | TSI | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA20905 | hp1 | a0002 | c0002 | t0002 | g0057 | SAS | GIH | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA20905 | hp2 | a0001 | c0001 | t0001 | g0198 | SAS | GIH | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG01123 | hp1 | a0001 | c0001 | t0001 | g0230 | AMR | CLM | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG01123 | hp2 | a0002 | c0002 | t0002 | g0002 | AMR | CLM | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02486 | hp1 | a0003 | c0003 | t0002 | g0139 | AFR | ACB | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02486 | hp2 | a0001 | c0001 | t0001 | g0112 | AFR | ACB | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02559 | hp1 | a0001 | c0001 | t0001 | g0122 | AFR | ACB | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG02559 | hp2 | a0003 | c0013 | t0002 | g0217 | AFR | ACB | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG03471 | hp1 | a0006 | c0008 | t0002 | g0018 | AFR | MSL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| HG03471 | hp2 | a0001 | c0001 | t0001 | g0170 | AFR | MSL | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA18955 | hp1 | a0001 | c0001 | t0001 | g0169 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA18955 | hp2 | a0002 | c0002 | t0002 | g0054 | EAS | JPT | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA21309 | hp1 | a0004 | c0004 | t0002 | g0101 | AFR | LWK | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| NA21309 | hp2 | a0001 | c0001 | t0001 | g0120 | AFR | LWK | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| homoSapiens | chm13v2 | a0016 | c0022 | t0001 | g0219 | REF | REF | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| homoSapiens | grch38p0 | a0001 | c0024 | t0001 | g0161 | REF | REF | EFCAB5_chr17_29936634_30113452 | EFCAB5 | chr17 | 29936634 | 30113452 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr17:29941799 | G | A | 1 | a0003 | 23 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(20): Show |
start_lost | HIGH | c.3G>A | p.Met1? | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 1/23 | 166/5103 | 3/4512 | 1/1503 | chr17 | 29941799 | |||
| chr17:29969182 | AAAG | A | 2 | a0004 a0007 |
9 | HG02055.hp1 HG02895.hp1 HG02896.hp1 others(6): Show |
conservative_inframe_deletion | MODERATE | c.589_591delAAG | p.Lys197del | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/23 | 752/5103 | 589/4512 | 197/1503 | INFO_REALIGN_3_PRIME | chr17 | 29969182 | ||
| chr17:29969278 | C | G | 1 | a0012 | 1 | HG03017.hp2 | missense_variant | MODERATE | c.678C>G | p.Ile226Met | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/23 | 841/5103 | 678/4512 | 226/1503 | chr17 | 29969278 | |||
| chr17:29969309 | T | G | 12 | a0002 a0003 a0004 others(9): Show |
124 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(121): Show |
missense_variant | MODERATE | c.709T>G | p.Leu237Val | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/23 | 872/5103 | 709/4512 | 237/1503 | chr17 | 29969309 | |||
| chr17:29996321 | G | A | 1 | a0005 | 3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
missense_variant | MODERATE | c.934G>A | p.Val312Ile | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/23 | 1097/5103 | 934/4512 | 312/1503 | chr17 | 29996321 | |||
| chr17:30034371 | T | G | 1 | a0014 | 1 | NA19064.hp1 | missense_variant | MODERATE | c.1186T>G | p.Cys396Gly | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/23 | 1349/5103 | 1186/4512 | 396/1503 | chr17 | 30034371 | |||
| chr17:30051188 | T | G | 1 | a0005 | 3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
missense_variant | MODERATE | c.1271T>G | p.Leu424Arg | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 9/23 | 1434/5103 | 1271/4512 | 424/1503 | chr17 | 30051188 | |||
| chr17:30051203 | G | A | 1 | a0010 | 1 | HG00140.hp1 | missense_variant | MODERATE | c.1286G>A | p.Arg429Gln | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 9/23 | 1449/5103 | 1286/4512 | 429/1503 | chr17 | 30051203 | |||
| chr17:30053395 | C | G | 1 | a0003 | 4 | HG02895.hp2 HG03486.hp1 NA18906.hp1 others(1): Show |
missense_variant | MODERATE | c.1441C>G | p.Gln481Glu | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 10/23 | 1604/5103 | 1441/4512 | 481/1503 | chr17 | 30053395 | |||
| chr17:30053450 | C | T | 1 | a0009 | 2 | HG01891.hp1 HG02451.hp2 |
missense_variant | MODERATE | c.1496C>T | p.Ser499Leu | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 10/23 | 1659/5103 | 1496/4512 | 499/1503 | chr17 | 30053450 | |||
| chr17:30053548 | C | A | 1 | a0003 | 3 | HG02895.hp2 NA18906.hp1 NA20129.hp1 |
missense_variant | MODERATE | c.1594C>A | p.Pro532Thr | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 10/23 | 1757/5103 | 1594/4512 | 532/1503 | chr17 | 30053548 | |||
| chr17:30053637 | G | T | 6 | a0003 a0004 a0005 others(3): Show |
38 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(35): Show |
missense_variant | MODERATE | c.1683G>T | p.Arg561Ser | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 10/23 | 1846/5103 | 1683/4512 | 561/1503 | chr17 | 30053637 | |||
| chr17:30078331 | C | T | 1 | a0007 | 3 | HG02922.hp2 HG03195.hp1 NA19240.hp1 |
stop_gained | HIGH | c.2854C>T | p.Gln952* | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 15/23 | 3017/5103 | 2854/4512 | 952/1503 | chr17 | 30078331 | |||
| chr17:30082990 | A | G | 1 | a0008 | 2 | HG01099.hp1 HG01361.hp2 |
missense_variant | MODERATE | c.3526A>G | p.Thr1176Ala | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/23 | 3689/5103 | 3526/4512 | 1176/1503 | chr17 | 30082990 | |||
| chr17:30090492 | T | C | 1 | a0003 | 3 | HG02895.hp2 NA18906.hp1 NA20129.hp1 |
missense_variant | MODERATE | c.3755T>C | p.Val1252Ala | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 20/23 | 3918/5103 | 3755/4512 | 1252/1503 | chr17 | 30090492 | |||
| chr17:30090504 | G | A | 1 | a0015 | 1 | NA20752.hp2 | missense_variant | MODERATE | c.3767G>A | p.Arg1256His | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 20/23 | 3930/5103 | 3767/4512 | 1256/1503 | chr17 | 30090504 | |||
| chr17:30090548 | G | A | 1 | a0003 | 1 | HG03486.hp1 | missense_variant | MODERATE | c.3811G>A | p.Gly1271Ser | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 20/23 | 3974/5103 | 3811/4512 | 1271/1503 | chr17 | 30090548 | |||
| chr17:30090558 | G | C | 4 | a0005 a0006 a0011 others(1): Show |
8 | HG02258.hp1 HG02451.hp1 HG02717.hp2 others(5): Show |
missense_variant | MODERATE | c.3821G>C | p.Arg1274Thr | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 20/23 | 3984/5103 | 3821/4512 | 1274/1503 | chr17 | 30090558 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr17:30054123 | C | G | 16 | a0001c0001 a0001c0012 a0001c0026 others(13): Show |
164 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(161): Show |
synonymous_variant | LOW | c.2169C>G | p.Thr723Thr | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 10/23 | 2332/5103 | 2169/4512 | 723/1503 | chr17 | 30054123 | |||
| chr17:30078255 | C | T | 1 | a0002c0005 | 4 | HG02132.hp1 HG02698.hp2 NA18963.hp2 others(1): Show |
synonymous_variant | LOW | c.2778C>T | p.His926His | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 15/23 | 2941/5103 | 2778/4512 | 926/1503 | chr17 | 30078255 | |||
| chr17:30080152 | G | C | 1 | a0002c0016 | 1 | NA19004.hp1 | synonymous_variant | LOW | c.3108G>C | p.Gly1036Gly | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 16/23 | 3271/5103 | 3108/4512 | 1036/1503 | chr17 | 30080152 | |||
| chr17:30080843 | G | A | 1 | a0006c0008 | 3 | HG02723.hp2 HG03225.hp1 HG03471.hp1 |
synonymous_variant | LOW | c.3288G>A | p.Lys1096Lys | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 17/23 | 3451/5103 | 3288/4512 | 1096/1503 | chr17 | 30080843 | |||
| chr17:30080858 | T | G | 16 | a0001c0001 a0001c0026 a0002c0017 others(13): Show |
163 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(160): Show |
synonymous_variant | LOW | c.3303T>G | p.Gly1101Gly | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 17/23 | 3466/5103 | 3303/4512 | 1101/1503 | chr17 | 30080858 | |||
| chr17:30080939 | C | T | 2 | a0002c0019 a0003c0013 |
2 | HG02559.hp2 HG03239.hp1 |
synonymous_variant | LOW | c.3384C>T | p.His1128His | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 17/23 | 3547/5103 | 3384/4512 | 1128/1503 | chr17 | 30080939 | |||
| chr17:30087143 | C | T | 1 | a0001c0026 | 1 | HG00408.hp1 | synonymous_variant | LOW | c.3660C>T | p.Ile1220Ile | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 19/23 | 3823/5103 | 3660/4512 | 1220/1503 | chr17 | 30087143 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr17:29941713 | T | C | 1 | a0002c0002t0003 | 1 | NA18986.hp1 | 5_prime_UTR_variant | MODIFIER | c.-84T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 1/23 | 84 | chr17 | 29941713 | ||||||
| chr17:29941782 | A | C | 21 | a0002c0002t0002 a0002c0002t0003 a0002c0005t0002 others(18): Show |
124 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(121): Show |
5_prime_UTR_variant | MODIFIER | c.-15A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 1/23 | 15 | chr17 | 29941782 | ||||||
| chr17:30108109 | T | C | 1 | a0001c0026t0004 | 1 | HG00408.hp1 | 3_prime_UTR_variant | MODIFIER | c.*85T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 23/23 | 85 | chr17 | 30108109 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr17:29941839 | G | A | 1 | a0002c0002t0002g0002 | 1 | HG01123.hp2 | splice_donor_variant&intron_variant | HIGH | c.42+1G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 1/22 | chr17 | 29941839 | |||||||
| chr17:29941906 | G | A | 3 | a0003c0006t0002g0003 a0003c0006t0002g0004 a0003c0006t0002g0005 |
3 | HG02895.hp2 NA18906.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.42+68G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 1/22 | chr17 | 29941906 | |||||||
| chr17:29942028 | T | G | 4 | a0003c0006t0002g0003 a0003c0006t0002g0004 a0003c0006t0002g0005 others(1): Show |
4 | HG02895.hp2 HG03486.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.42+190T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 1/22 | chr17 | 29942028 | |||||||
| chr17:29942425 | G | A | 5 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(2): Show |
5 | HG00621.hp2 HG02056.hp1 NA18971.hp1 others(2): Show |
intron_variant | MODIFIER | c.105+123G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 2/22 | chr17 | 29942425 | |||||||
| chr17:29942836 | A | G | 1 | a0002c0002t0002g0002 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.105+534A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 2/22 | chr17 | 29942836 | |||||||
| chr17:29943041 | A | AAT | 29 | a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 others(26): Show |
29 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(26): Show |
intron_variant | MODIFIER | c.106-502_106-501dup others(2): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr17 | 29943041 | ||||||
| chr17:29943041 | AAT | A | 44 | a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 others(41): Show |
44 | HG00741.hp1 HG01069.hp2 HG01071.hp2 others(41): Show |
intron_variant | MODIFIER | c.106-502_106-501del others(2): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr17 | 29943041 | ||||||
| chr17:29943041 | AATAT | A | 97 | a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0013 others(94): Show |
98 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(95): Show |
intron_variant | MODIFIER | c.106-504_106-501del others(4): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr17 | 29943041 | ||||||
| chr17:29943293 | A | C | 1 | a0001c0001t0001g0146 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.106-272A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 2/22 | chr17 | 29943293 | |||||||
| chr17:29943332 | C | T | 123 | a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0013 others(120): Show |
124 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(121): Show |
intron_variant | MODIFIER | c.106-233C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 2/22 | chr17 | 29943332 | |||||||
| chr17:29943341 | G | A | 1 | a0001c0001t0001g0147 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.106-224G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 2/22 | chr17 | 29943341 | |||||||
| chr17:29943840 | T | C | 1 | a0001c0001t0001g0218 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.190+191T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29943840 | |||||||
| chr17:29943946 | C | A | 1 | a0013c0021t0002g0012 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.190+297C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29943946 | |||||||
| chr17:29943980 | T | A | 2 | a0002c0002t0002g0013 a0002c0016t0002g0014 |
2 | NA18964.hp2 NA19004.hp1 |
intron_variant | MODIFIER | c.190+331T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29943980 | |||||||
| chr17:29944154 | C | T | 1 | a0002c0002t0002g0106 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.190+505C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29944154 | |||||||
| chr17:29944189 | T | C | 123 | a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0013 others(120): Show |
124 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(121): Show |
intron_variant | MODIFIER | c.190+540T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29944189 | |||||||
| chr17:29944337 | T | A | 1 | a0001c0001t0001g0146 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.190+688T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29944337 | |||||||
| chr17:29944617 | G | GT | 7 | a0003c0003t0002g0140 a0003c0003t0002g0141 a0003c0003t0002g0142 others(4): Show |
7 | HG00741.hp1 HG01243.hp2 HG01516.hp1 others(4): Show |
intron_variant | MODIFIER | c.190+972dupT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr17 | 29944617 | ||||||
| chr17:29944622 | G | GT | 12 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(9): Show |
12 | HG01433.hp1 HG01884.hp1 HG02486.hp1 others(9): Show |
intron_variant | MODIFIER | c.190+977dupT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr17 | 29944622 | ||||||
| chr17:29944622 | G | T | 9 | a0003c0003t0002g0140 a0003c0003t0002g0141 a0003c0003t0002g0142 others(6): Show |
9 | HG00741.hp1 HG01243.hp2 HG01516.hp1 others(6): Show |
intron_variant | MODIFIER | c.190+973G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29944622 | |||||||
| chr17:29944627 | G | GT | 7 | a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 others(4): Show |
7 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(4): Show |
intron_variant | MODIFIER | c.190+991dupT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr17 | 29944627 | ||||||
| chr17:29944627 | G | T | 122 | a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0013 others(119): Show |
123 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(120): Show |
intron_variant | MODIFIER | c.190+978G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29944627 | |||||||
| chr17:29944998 | C | T | 1 | a0002c0002t0002g0105 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.190+1349C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29944998 | |||||||
| chr17:29945054 | A | C | 3 | a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0146 |
3 | HG01243.hp1 HG02559.hp1 HG02809.hp1 |
intron_variant | MODIFIER | c.190+1405A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29945054 | |||||||
| chr17:29945085 | C | G | 9 | a0004c0004t0002g0015 a0004c0004t0002g0097 a0004c0004t0002g0098 others(6): Show |
9 | HG02055.hp1 HG02895.hp1 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.190+1436C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29945085 | |||||||
| chr17:29945119 | T | C | 4 | a0002c0020t0002g0019 a0006c0008t0002g0016 a0006c0008t0002g0017 others(1): Show |
4 | HG02615.hp2 HG02723.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.190+1470T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29945119 | |||||||
| chr17:29945367 | A | G | 1 | a0002c0002t0002g0096 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.190+1718A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29945367 | |||||||
| chr17:29946034 | A | G | 85 | a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0013 others(82): Show |
86 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(83): Show |
intron_variant | MODIFIER | c.190+2385A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29946034 | |||||||
| chr17:29946300 | A | C | 1 | a0002c0020t0002g0019 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.190+2651A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29946300 | |||||||
| chr17:29946429 | C | CT | 32 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0113 others(29): Show |
32 | HG00621.hp2 HG00639.hp2 HG01069.hp2 others(29): Show |
intron_variant | MODIFIER | c.190+2805dupT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr17 | 29946429 | ||||||
| chr17:29946429 | CTT | C | 26 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(23): Show |
26 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(23): Show |
intron_variant | MODIFIER | c.190+2804_190+2805d others(4): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr17 | 29946429 | ||||||
| chr17:29946429 | CTTT | C | 23 | a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 others(20): Show |
23 | HG00621.hp1 HG00642.hp2 HG01099.hp1 others(20): Show |
intron_variant | MODIFIER | c.190+2803_190+2805d others(5): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr17 | 29946429 | ||||||
| chr17:29946429 | CTTTT | C | 72 | a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0013 others(69): Show |
73 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(70): Show |
intron_variant | MODIFIER | c.190+2802_190+2805d others(6): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr17 | 29946429 | ||||||
| chr17:29946467 | C | T | 6 | a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0146 others(3): Show |
6 | HG01243.hp1 HG02258.hp1 HG02451.hp1 others(3): Show |
intron_variant | MODIFIER | c.190+2818C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29946467 | |||||||
| chr17:29946538 | G | T | 4 | a0003c0006t0002g0003 a0003c0006t0002g0004 a0003c0006t0002g0005 others(1): Show |
4 | HG02895.hp2 HG03486.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.190+2889G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29946538 | |||||||
| chr17:29946568 | T | C | 1 | a0001c0001t0001g0148 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.190+2919T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29946568 | |||||||
| chr17:29946700 | A | C | 4 | a0003c0003t0002g0132 a0003c0003t0002g0133 a0003c0003t0002g0134 others(1): Show |
4 | HG02572.hp2 HG03098.hp2 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.190+3051A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29946700 | |||||||
| chr17:29946733 | C | T | 1 | a0003c0014t0002g0006 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.190+3084C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29946733 | |||||||
| chr17:29946811 | C | T | 1 | a0001c0001t0001g0202 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.190+3162C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29946811 | |||||||
| chr17:29946934 | C | T | 1 | a0002c0002t0002g0085 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.190+3285C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29946934 | |||||||
| chr17:29946939 | C | T | 10 | a0003c0003t0002g0132 a0003c0003t0002g0133 a0003c0003t0002g0134 others(7): Show |
10 | HG00741.hp1 HG01243.hp2 HG01516.hp1 others(7): Show |
intron_variant | MODIFIER | c.190+3290C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29946939 | |||||||
| chr17:29946991 | T | C | 3 | a0003c0006t0002g0003 a0003c0006t0002g0004 a0003c0006t0002g0005 |
3 | HG02895.hp2 NA18906.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.190+3342T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29946991 | |||||||
| chr17:29947436 | C | T | 1 | a0008c0010t0002g0094 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.190+3787C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29947436 | |||||||
| chr17:29947533 | T | C | 1 | a0001c0001t0001g0149 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.190+3884T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29947533 | |||||||
| chr17:29947551 | G | T | 9 | a0004c0004t0002g0015 a0004c0004t0002g0097 a0004c0004t0002g0098 others(6): Show |
9 | HG02055.hp1 HG02895.hp1 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.190+3902G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29947551 | |||||||
| chr17:29947570 | A | T | 19 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(16): Show |
19 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(16): Show |
intron_variant | MODIFIER | c.190+3921A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29947570 | |||||||
| chr17:29947633 | G | C | 3 | a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0113 |
3 | HG03139.hp2 NA18906.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.190+3984G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29947633 | |||||||
| chr17:29947918 | C | T | 1 | a0001c0001t0001g0201 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.190+4269C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29947918 | |||||||
| chr17:29947955 | AG | A | 4 | a0003c0006t0002g0003 a0003c0006t0002g0004 a0003c0006t0002g0005 others(1): Show |
4 | HG02895.hp2 HG03486.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.190+4307delG | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29947955 | |||||||
| chr17:29948077 | C | T | 81 | a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0013 others(78): Show |
82 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(79): Show |
intron_variant | MODIFIER | c.190+4428C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29948077 | |||||||
| chr17:29948345 | G | A | 1 | a0001c0001t0001g0150 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.190+4696G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29948345 | |||||||
| chr17:29948455 | C | T | 1 | a0002c0002t0002g0084 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.190+4806C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29948455 | |||||||
| chr17:29948687 | G | A | 38 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(35): Show |
38 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(35): Show |
intron_variant | MODIFIER | c.190+5038G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29948687 | |||||||
| chr17:29948874 | T | A | 1 | a0001c0001t0001g0151 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.190+5225T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29948874 | |||||||
| chr17:29948982 | A | T | 2 | a0001c0001t0001g0240 a0001c0001t0001g0241 |
2 | HG01167.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.190+5333A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29948982 | |||||||
| chr17:29949875 | G | A | 3 | a0005c0007t0002g0136 a0005c0007t0002g0137 a0005c0007t0002g0138 |
3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.190+6226G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29949875 | |||||||
| chr17:29950023 | T | C | 85 | a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0013 others(82): Show |
86 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(83): Show |
intron_variant | MODIFIER | c.190+6374T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29950023 | |||||||
| chr17:29950178 | A | G | 19 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(16): Show |
19 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(16): Show |
intron_variant | MODIFIER | c.190+6529A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29950178 | |||||||
| chr17:29950276 | TTTCCTTC others(1): Show |
T | 3 | a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0024 |
3 | HG00323.hp1 HG01993.hp1 HG02630.hp1 |
intron_variant | MODIFIER | c.190+6641_190+6648d others(10): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr17 | 29950276 | ||||||
| chr17:29950421 | G | T | 2 | a0002c0002t0002g0083 a0012c0027t0002g0082 |
2 | HG02735.hp1 HG03017.hp2 |
intron_variant | MODIFIER | c.190+6772G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29950421 | |||||||
| chr17:29950638 | C | T | 3 | a0005c0007t0002g0136 a0005c0007t0002g0137 a0005c0007t0002g0138 |
3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.190+6989C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29950638 | |||||||
| chr17:29950933 | G | C | 81 | a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0013 others(78): Show |
82 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(79): Show |
intron_variant | MODIFIER | c.190+7284G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29950933 | |||||||
| chr17:29951101 | AC | A | 4 | a0003c0006t0002g0003 a0003c0006t0002g0004 a0003c0006t0002g0005 others(1): Show |
4 | HG02895.hp2 HG03486.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.190+7455delC | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr17 | 29951101 | ||||||
| chr17:29951467 | A | G | 1 | a0001c0001t0001g0247 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.190+7818A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29951467 | |||||||
| chr17:29951511 | G | T | 1 | a0001c0001t0001g0239 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.190+7862G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29951511 | |||||||
| chr17:29951511 | GTATTTTT others(5): Show |
G | 1 | a0001c0001t0001g0113 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.190+7877_190+7888d others(14): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr17 | 29951511 | ||||||
| chr17:29951513 | A | AT | 109 | a0001c0001t0001g0128 a0001c0001t0001g0246 a0002c0002t0002g0001 others(106): Show |
110 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(107): Show |
intron_variant | MODIFIER | c.190+7875dupT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr17 | 29951513 | ||||||
| chr17:29951519 | T | A | 1 | a0001c0001t0001g0147 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.190+7870T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29951519 | |||||||
| chr17:29951523 | T | G | 1 | a0001c0001t0001g0203 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.190+7874T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29951523 | |||||||
| chr17:29951523 | T | TG | 10 | a0003c0003t0002g0132 a0003c0003t0002g0133 a0003c0003t0002g0134 others(7): Show |
10 | HG00741.hp1 HG01243.hp2 HG01516.hp1 others(7): Show |
intron_variant | MODIFIER | c.190+7874_190+7875i others(3): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29951523 | |||||||
| chr17:29951531 | T | A | 86 | a0001c0001t0001g0152 a0002c0002t0002g0001 a0002c0002t0002g0002 others(83): Show |
87 | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(84): Show |
intron_variant | MODIFIER | c.190+7882T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29951531 | |||||||
| chr17:29951532 | T | C | 1 | a0002c0005t0002g0025 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.190+7883T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29951532 | |||||||
| chr17:29951644 | C | T | 1 | a0001c0001t0001g0149 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.190+7995C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29951644 | |||||||
| chr17:29952030 | G | A | 5 | a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 others(2): Show |
5 | HG02622.hp2 HG02717.hp1 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.190+8381G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29952030 | |||||||
| chr17:29952128 | A | AAAATGTT others(7): Show |
1 | a0001c0001t0001g0156 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.190+8480_190+8481i others(16): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr17 | 29952128 | ||||||
| chr17:29952132 | T | A | 1 | a0001c0001t0001g0156 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.190+8483T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29952132 | |||||||
| chr17:29952303 | T | G | 2 | a0006c0008t0002g0016 a0006c0008t0002g0017 |
2 | HG02723.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.190+8654T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29952303 | |||||||
| chr17:29952469 | C | T | 1 | a0003c0003t0002g0131 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.190+8820C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29952469 | |||||||
| chr17:29952573 | A | C | 85 | a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0013 others(82): Show |
86 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(83): Show |
intron_variant | MODIFIER | c.190+8924A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29952573 | |||||||
| chr17:29952684 | A | G | 4 | a0003c0006t0002g0003 a0003c0006t0002g0004 a0003c0006t0002g0005 others(1): Show |
4 | HG02895.hp2 HG03486.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.190+9035A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29952684 | |||||||
| chr17:29952705 | T | G | 10 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(7): Show |
10 | HG00408.hp1 HG00621.hp2 HG02056.hp1 others(7): Show |
intron_variant | MODIFIER | c.190+9056T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29952705 | |||||||
| chr17:29952762 | A | G | 2 | a0003c0003t0002g0215 a0003c0003t0002g0216 |
2 | HG02965.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.190+9113A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29952762 | |||||||
| chr17:29952778 | G | A | 12 | a0004c0004t0002g0015 a0004c0004t0002g0097 a0004c0004t0002g0098 others(9): Show |
12 | HG01891.hp1 HG02055.hp1 HG02451.hp2 others(9): Show |
intron_variant | MODIFIER | c.190+9129G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29952778 | |||||||
| chr17:29952917 | T | G | 3 | a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0113 |
3 | HG03139.hp2 NA18906.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.190+9268T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29952917 | |||||||
| chr17:29952995 | C | A | 1 | a0002c0002t0002g0026 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.190+9346C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29952995 | |||||||
| chr17:29953372 | T | C | 1 | a0003c0014t0002g0006 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.190+9723T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29953372 | |||||||
| chr17:29953783 | G | A | 1 | a0003c0003t0002g0131 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.190+10134G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29953783 | |||||||
| chr17:29953845 | C | T | 2 | a0001c0001t0001g0009 a0001c0001t0001g0011 |
2 | HG00621.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.190+10196C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29953845 | |||||||
| chr17:29953890 | G | A | 4 | a0004c0004t0002g0097 a0004c0004t0002g0098 a0004c0004t0002g0099 others(1): Show |
4 | HG02895.hp1 HG02896.hp1 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.190+10241G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29953890 | |||||||
| chr17:29954041 | G | A | 1 | a0001c0001t0001g0114 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.190+10392G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29954041 | |||||||
| chr17:29954043 | A | G | 1 | a0001c0001t0001g0113 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.190+10394A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29954043 | |||||||
| chr17:29954240 | A | G | 1 | a0001c0001t0001g0200 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.190+10591A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29954240 | |||||||
| chr17:29954368 | C | T | 12 | a0004c0004t0002g0015 a0004c0004t0002g0097 a0004c0004t0002g0098 others(9): Show |
12 | HG01891.hp1 HG02055.hp1 HG02451.hp2 others(9): Show |
intron_variant | MODIFIER | c.190+10719C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29954368 | |||||||
| chr17:29954419 | A | G | 123 | a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0013 others(120): Show |
124 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(121): Show |
intron_variant | MODIFIER | c.190+10770A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29954419 | |||||||
| chr17:29954626 | G | A | 3 | a0002c0002t0002g0001 a0002c0002t0002g0027 a0002c0002t0002g0028 |
4 | HG00280.hp1 HG00639.hp1 HG00733.hp1 others(1): Show |
intron_variant | MODIFIER | c.190+10977G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29954626 | |||||||
| chr17:29954746 | G | A | 1 | a0003c0014t0002g0006 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.190+11097G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29954746 | |||||||
| chr17:29954774 | C | A | 1 | a0001c0001t0001g0218 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.190+11125C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29954774 | |||||||
| chr17:29954781 | C | T | 1 | a0002c0002t0002g0096 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.190+11132C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29954781 | |||||||
| chr17:29954950 | G | A | 1 | a0002c0020t0002g0019 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.190+11301G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29954950 | |||||||
| chr17:29955076 | T | C | 1 | a0003c0003t0002g0215 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.190+11427T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29955076 | |||||||
| chr17:29955134 | G | T | 6 | a0002c0002t0002g0002 a0002c0002t0002g0080 a0002c0002t0002g0081 others(3): Show |
6 | HG00642.hp2 HG01099.hp1 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.190+11485G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29955134 | |||||||
| chr17:29955249 | G | A | 2 | a0001c0001t0001g0121 a0001c0001t0001g0122 |
2 | HG01243.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.190+11600G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29955249 | |||||||
| chr17:29955607 | C | T | 1 | a0002c0020t0002g0019 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.190+11958C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29955607 | |||||||
| chr17:29955748 | T | G | 19 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(16): Show |
19 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(16): Show |
intron_variant | MODIFIER | c.190+12099T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29955748 | |||||||
| chr17:29955801 | TA | T | 242 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(239): Show |
243 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(240): Show |
intron_variant | MODIFIER | c.190+12164delA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr17 | 29955801 | ||||||
| chr17:29955892 | T | A | 123 | a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0013 others(120): Show |
124 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(121): Show |
intron_variant | MODIFIER | c.190+12243T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29955892 | |||||||
| chr17:29955926 | C | G | 3 | a0001c0001t0001g0151 a0001c0001t0001g0198 a0001c0001t0001g0199 |
3 | HG01081.hp1 HG04228.hp1 NA20905.hp2 |
intron_variant | MODIFIER | c.190+12277C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29955926 | |||||||
| chr17:29956019 | A | T | 1 | a0001c0001t0001g0197 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.190+12370A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29956019 | |||||||
| chr17:29956205 | G | A | 2 | a0003c0003t0002g0140 a0003c0003t0002g0141 |
2 | HG01516.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.190+12556G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29956205 | |||||||
| chr17:29956228 | G | A | 2 | a0002c0002t0002g0029 a0002c0002t0002g0030 |
2 | HG00741.hp2 HG01346.hp1 |
intron_variant | MODIFIER | c.191-12563G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29956228 | |||||||
| chr17:29956250 | A | C | 1 | a0001c0012t0001g0196 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.191-12541A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29956250 | |||||||
| chr17:29956284 | T | C | 21 | a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 others(18): Show |
21 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(18): Show |
intron_variant | MODIFIER | c.191-12507T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29956284 | |||||||
| chr17:29956420 | G | A | 3 | a0001c0001t0001g0150 a0001c0001t0001g0160 a0001c0001t0001g0207 |
3 | HG02723.hp1 HG03139.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.191-12371G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29956420 | |||||||
| chr17:29956578 | T | C | 2 | a0009c0011t0002g0020 a0009c0011t0002g0021 |
2 | HG01891.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.191-12213T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29956578 | |||||||
| chr17:29956648 | A | T | 3 | a0005c0007t0002g0136 a0005c0007t0002g0137 a0005c0007t0002g0138 |
3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.191-12143A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29956648 | |||||||
| chr17:29956801 | C | T | 1 | a0001c0001t0001g0244 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.191-11990C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29956801 | |||||||
| chr17:29956860 | G | A | 3 | a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 |
3 | HG01952.hp2 HG02273.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.191-11931G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29956860 | |||||||
| chr17:29956914 | C | A | 2 | a0001c0001t0001g0121 a0001c0001t0001g0122 |
2 | HG01243.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.191-11877C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29956914 | |||||||
| chr17:29956938 | T | G | 3 | a0005c0007t0002g0136 a0005c0007t0002g0137 a0005c0007t0002g0138 |
3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.191-11853T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29956938 | |||||||
| chr17:29957039 | G | A | 2 | a0004c0004t0002g0015 a0004c0004t0002g0101 |
2 | HG02055.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.191-11752G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29957039 | |||||||
| chr17:29957123 | C | A | 4 | a0002c0020t0002g0019 a0006c0008t0002g0016 a0006c0008t0002g0017 others(1): Show |
4 | HG02615.hp2 HG02723.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.191-11668C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29957123 | |||||||
| chr17:29957144 | G | C | 1 | a0001c0001t0001g0220 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.191-11647G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29957144 | |||||||
| chr17:29957200 | G | A | 6 | a0003c0003t0002g0140 a0003c0003t0002g0141 a0003c0003t0002g0142 others(3): Show |
6 | HG00741.hp1 HG01243.hp2 HG01516.hp1 others(3): Show |
intron_variant | MODIFIER | c.191-11591G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29957200 | |||||||
| chr17:29957364 | A | G | 1 | a0001c0001t0001g0232 | 1 | NA18961.hp2 | intron_variant | MODIFIER | c.191-11427A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29957364 | |||||||
| chr17:29957665 | C | T | 23 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(20): Show |
23 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(20): Show |
intron_variant | MODIFIER | c.191-11126C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29957665 | |||||||
| chr17:29958565 | T | C | 4 | a0003c0006t0002g0003 a0003c0006t0002g0004 a0003c0006t0002g0005 others(1): Show |
4 | HG02895.hp2 HG03486.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.191-10226T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29958565 | |||||||
| chr17:29958574 | C | T | 1 | a0002c0002t0002g0091 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.191-10217C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29958574 | |||||||
| chr17:29958955 | T | G | 1 | a0001c0001t0001g0165 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.191-9836T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29958955 | |||||||
| chr17:29959167 | T | C | 14 | a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0114 others(11): Show |
14 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(11): Show |
intron_variant | MODIFIER | c.191-9624T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29959167 | |||||||
| chr17:29959478 | C | T | 9 | a0004c0004t0002g0015 a0004c0004t0002g0097 a0004c0004t0002g0098 others(6): Show |
9 | HG02055.hp1 HG02895.hp1 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.191-9313C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29959478 | |||||||
| chr17:29959738 | C | T | 1 | a0001c0001t0001g0231 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.191-9053C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29959738 | |||||||
| chr17:29960030 | C | T | 32 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(29): Show |
32 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(29): Show |
intron_variant | MODIFIER | c.191-8761C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29960030 | |||||||
| chr17:29960214 | G | A | 1 | a0001c0001t0001g0166 | 1 | NA18940.hp2 | intron_variant | MODIFIER | c.191-8577G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29960214 | |||||||
| chr17:29960659 | G | C | 8 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(5): Show |
8 | HG00621.hp2 HG02056.hp1 HG03942.hp1 others(5): Show |
intron_variant | MODIFIER | c.191-8132G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29960659 | |||||||
| chr17:29960742 | G | A | 1 | a0001c0001t0001g0201 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.191-8049G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29960742 | |||||||
| chr17:29960843 | A | G | 1 | a0002c0002t0002g0079 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.191-7948A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29960843 | |||||||
| chr17:29961053 | C | T | 2 | a0002c0002t0002g0079 a0014c0015t0002g0078 |
2 | NA19011.hp2 NA19064.hp1 |
intron_variant | MODIFIER | c.191-7738C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29961053 | |||||||
| chr17:29962045 | A | G | 1 | a0002c0002t0002g0026 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.191-6746A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29962045 | |||||||
| chr17:29962238 | T | C | 2 | a0003c0003t0002g0132 a0003c0003t0002g0133 |
2 | HG02572.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.191-6553T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29962238 | |||||||
| chr17:29962295 | A | G | 1 | a0003c0003t0002g0145 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.191-6496A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29962295 | |||||||
| chr17:29962615 | C | T | 27 | a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0162 others(24): Show |
27 | HG00140.hp2 HG00733.hp2 HG01168.hp1 others(24): Show |
intron_variant | MODIFIER | c.191-6176C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29962615 | |||||||
| chr17:29962625 | T | C | 1 | a0001c0001t0001g0184 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.191-6166T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29962625 | |||||||
| chr17:29962632 | C | CT | 116 | a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0013 others(113): Show |
117 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(114): Show |
intron_variant | MODIFIER | c.191-6140dupT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr17 | 29962632 | ||||||
| chr17:29962664 | G | A | 3 | a0002c0002t0002g0001 a0002c0002t0002g0027 a0002c0002t0002g0028 |
4 | HG00280.hp1 HG00639.hp1 HG00733.hp1 others(1): Show |
intron_variant | MODIFIER | c.191-6127G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29962664 | |||||||
| chr17:29962685 | T | C | 2 | a0001c0001t0001g0111 a0001c0001t0001g0112 |
2 | HG02257.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.191-6106T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29962685 | |||||||
| chr17:29962800 | C | T | 123 | a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0013 others(120): Show |
124 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(121): Show |
intron_variant | MODIFIER | c.191-5991C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29962800 | |||||||
| chr17:29963037 | G | T | 1 | a0001c0001t0001g0158 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.191-5754G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29963037 | |||||||
| chr17:29963320 | C | T | 3 | a0005c0007t0002g0136 a0005c0007t0002g0137 a0005c0007t0002g0138 |
3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.191-5471C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29963320 | |||||||
| chr17:29963340 | A | G | 150 | a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 others(147): Show |
151 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(148): Show |
intron_variant | MODIFIER | c.191-5451A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29963340 | |||||||
| chr17:29964204 | T | A | 81 | a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0013 others(78): Show |
82 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(79): Show |
intron_variant | MODIFIER | c.191-4587T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29964204 | |||||||
| chr17:29964248 | A | G | 1 | a0001c0001t0001g0212 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.191-4543A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29964248 | |||||||
| chr17:29964316 | C | G | 3 | a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0113 |
3 | HG03139.hp2 NA18906.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.191-4475C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29964316 | |||||||
| chr17:29964487 | T | G | 123 | a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0013 others(120): Show |
124 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(121): Show |
intron_variant | MODIFIER | c.191-4304T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29964487 | |||||||
| chr17:29964583 | G | A | 4 | a0003c0006t0002g0003 a0003c0006t0002g0004 a0003c0006t0002g0005 others(1): Show |
4 | HG02895.hp2 HG03486.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.191-4208G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29964583 | |||||||
| chr17:29964603 | T | C | 3 | a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 |
3 | HG02523.hp2 HG02683.hp1 NA18955.hp1 |
intron_variant | MODIFIER | c.191-4188T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29964603 | |||||||
| chr17:29964789 | CTCTT | C | 28 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(25): Show |
28 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(25): Show |
intron_variant | MODIFIER | c.191-4000_191-3997d others(6): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr17 | 29964789 | ||||||
| chr17:29964892 | CTTAT | C | 2 | a0001c0001t0001g0110 a0001c0001t0001g0119 |
2 | HG02622.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.191-3896_191-3893d others(6): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr17 | 29964892 | ||||||
| chr17:29965062 | C | T | 2 | a0002c0002t0002g0076 a0002c0002t0002g0077 |
2 | HG01168.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.191-3729C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29965062 | |||||||
| chr17:29965094 | G | A | 1 | a0003c0003t0002g0145 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.191-3697G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29965094 | |||||||
| chr17:29965153 | T | A | 3 | a0005c0007t0002g0136 a0005c0007t0002g0137 a0005c0007t0002g0138 |
3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.191-3638T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29965153 | |||||||
| chr17:29965574 | G | A | 2 | a0001c0001t0001g0009 a0001c0001t0001g0011 |
2 | HG00621.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.191-3217G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29965574 | |||||||
| chr17:29965875 | T | C | 1 | a0001c0001t0001g0232 | 1 | NA18961.hp2 | intron_variant | MODIFIER | c.191-2916T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29965875 | |||||||
| chr17:29966090 | A | C | 3 | a0009c0011t0002g0020 a0009c0011t0002g0021 a0013c0021t0002g0012 |
3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.191-2701A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29966090 | |||||||
| chr17:29966332 | AT | A | 4 | a0002c0020t0002g0019 a0006c0008t0002g0016 a0006c0008t0002g0017 others(1): Show |
4 | HG02615.hp2 HG02723.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.191-2457delT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr17 | 29966332 | ||||||
| chr17:29966494 | G | A | 1 | a0005c0007t0002g0138 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.191-2297G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29966494 | |||||||
| chr17:29966568 | C | T | 2 | a0005c0007t0002g0136 a0005c0007t0002g0137 |
2 | HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.191-2223C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29966568 | |||||||
| chr17:29966640 | T | C | 2 | a0001c0001t0001g0185 a0001c0001t0001g0186 |
2 | NA18986.hp2 NA19007.hp1 |
intron_variant | MODIFIER | c.191-2151T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29966640 | |||||||
| chr17:29966841 | G | GT | 10 | a0003c0003t0002g0132 a0003c0003t0002g0133 a0003c0003t0002g0134 others(7): Show |
10 | HG00741.hp1 HG01243.hp2 HG01516.hp1 others(7): Show |
intron_variant | MODIFIER | c.191-1940dupT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr17 | 29966841 | ||||||
| chr17:29966860 | C | T | 2 | a0005c0007t0002g0136 a0005c0007t0002g0137 |
2 | HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.191-1931C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29966860 | |||||||
| chr17:29966930 | C | G | 123 | a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0013 others(120): Show |
124 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(121): Show |
intron_variant | MODIFIER | c.191-1861C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29966930 | |||||||
| chr17:29967262 | G | A | 9 | a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0024 others(6): Show |
9 | HG00323.hp1 HG01081.hp2 HG01109.hp2 others(6): Show |
intron_variant | MODIFIER | c.191-1529G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29967262 | |||||||
| chr17:29967403 | C | A | 1 | a0004c0004t0002g0101 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.191-1388C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29967403 | |||||||
| chr17:29967473 | C | T | 2 | a0008c0010t0002g0093 a0008c0010t0002g0094 |
2 | HG01099.hp1 HG01361.hp2 |
intron_variant | MODIFIER | c.191-1318C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29967473 | |||||||
| chr17:29967503 | C | T | 1 | a0001c0001t0001g0195 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.191-1288C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29967503 | |||||||
| chr17:29967523 | T | C | 1 | a0001c0001t0001g0234 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.191-1268T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29967523 | |||||||
| chr17:29967541 | G | T | 3 | a0009c0011t0002g0020 a0009c0011t0002g0021 a0013c0021t0002g0012 |
3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.191-1250G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29967541 | |||||||
| chr17:29967849 | G | T | 1 | a0002c0016t0002g0014 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.191-942G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29967849 | |||||||
| chr17:29967868 | C | T | 1 | a0007c0009t0002g0104 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.191-923C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29967868 | |||||||
| chr17:29967888 | C | CT | 12 | a0001c0001t0001g0199 a0002c0002t0002g0074 a0002c0002t0002g0075 others(9): Show |
12 | HG00741.hp1 HG01243.hp2 HG01516.hp1 others(9): Show |
intron_variant | MODIFIER | c.191-885dupT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr17 | 29967888 | ||||||
| chr17:29967888 | CT | C | 9 | a0001c0001t0001g0115 a0001c0001t0001g0204 a0001c0001t0001g0231 others(6): Show |
9 | HG01433.hp1 HG01496.hp1 HG02486.hp1 others(6): Show |
intron_variant | MODIFIER | c.191-885delT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr17 | 29967888 | ||||||
| chr17:29967959 | C | T | 1 | a0002c0002t0002g0073 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.191-832C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29967959 | |||||||
| chr17:29968246 | T | C | 1 | a0003c0003t0002g0216 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.191-545T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29968246 | |||||||
| chr17:29968333 | C | T | 38 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(35): Show |
38 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(35): Show |
intron_variant | MODIFIER | c.191-458C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29968333 | |||||||
| chr17:29968338 | C | T | 1 | a0002c0002t0002g0013 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.191-453C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29968338 | |||||||
| chr17:29968617 | A | G | 6 | a0003c0003t0002g0140 a0003c0003t0002g0141 a0003c0003t0002g0142 others(3): Show |
6 | HG00741.hp1 HG01243.hp2 HG01516.hp1 others(3): Show |
intron_variant | MODIFIER | c.191-174A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29968617 | |||||||
| chr17:29968703 | T | C | 1 | a0001c0012t0001g0187 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.191-88T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 3/22 | chr17 | 29968703 | |||||||
| chr17:29969422 | G | T | 3 | a0006c0008t0002g0016 a0006c0008t0002g0017 a0006c0008t0002g0018 |
3 | HG02723.hp2 HG03225.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.767+55G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29969422 | |||||||
| chr17:29969517 | C | T | 3 | a0005c0007t0002g0136 a0005c0007t0002g0137 a0005c0007t0002g0138 |
3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.767+150C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29969517 | |||||||
| chr17:29969554 | G | T | 1 | a0002c0002t0002g0028 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.767+187G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29969554 | |||||||
| chr17:29970034 | T | C | 19 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(16): Show |
19 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(16): Show |
intron_variant | MODIFIER | c.767+667T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29970034 | |||||||
| chr17:29970220 | C | A | 2 | a0001c0001t0001g0009 a0001c0001t0001g0011 |
2 | HG00621.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.767+853C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29970220 | |||||||
| chr17:29970624 | A | C | 1 | a0003c0013t0002g0217 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.767+1257A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29970624 | |||||||
| chr17:29970637 | G | GAC | 5 | a0001c0001t0001g0010 a0001c0001t0001g0150 a0001c0001t0001g0160 others(2): Show |
5 | HG02723.hp1 HG03139.hp1 HG03540.hp1 others(2): Show |
intron_variant | MODIFIER | c.767+1300_767+1301d others(4): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29970637 | ||||||
| chr17:29970637 | G | GACAC | 98 | a0001c0001t0001g0007 a0001c0001t0001g0110 a0001c0001t0001g0112 others(95): Show |
98 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(95): Show |
intron_variant | MODIFIER | c.767+1298_767+1301d others(6): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29970637 | ||||||
| chr17:29970637 | G | GACACAC | 11 | a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0157 others(8): Show |
11 | HG00280.hp1 HG01255.hp2 HG01261.hp2 others(8): Show |
intron_variant | MODIFIER | c.767+1296_767+1301d others(8): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29970637 | ||||||
| chr17:29970637 | G | GACACACA others(1): Show |
61 | a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0013 others(58): Show |
62 | HG00099.hp2 HG00323.hp1 HG00609.hp1 others(59): Show |
intron_variant | MODIFIER | c.767+1294_767+1301d others(10): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29970637 | ||||||
| chr17:29970637 | G | GACACACA others(3): Show |
6 | a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0079 others(3): Show |
6 | HG00741.hp2 HG01346.hp1 HG02683.hp2 others(3): Show |
intron_variant | MODIFIER | c.767+1292_767+1301d others(12): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29970637 | ||||||
| chr17:29970637 | G | GACACACA others(5): Show |
3 | a0003c0006t0002g0003 a0003c0006t0002g0004 a0003c0006t0002g0005 |
3 | HG02895.hp2 NA18906.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.767+1290_767+1301d others(14): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29970637 | ||||||
| chr17:29970637 | G | GACACACA others(15): Show |
1 | a0001c0001t0001g0221 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.767+1280_767+1301d others(24): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29970637 | ||||||
| chr17:29970649 | CACACACA others(13): Show |
C | 2 | a0005c0007t0002g0136 a0005c0007t0002g0137 |
2 | HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.767+1302_767+1321d others(22): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29970649 | ||||||
| chr17:29970651 | CACACACA others(11): Show |
C | 1 | a0005c0007t0002g0138 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.767+1302_767+1319d others(20): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29970651 | ||||||
| chr17:29970659 | CACACACA others(3): Show |
C | 1 | a0007c0009t0002g0104 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.767+1302_767+1311d others(12): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29970659 | ||||||
| chr17:29970661 | C | CACACACA others(15): Show |
1 | a0003c0013t0002g0217 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.767+1301_767+1302i others(24): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29970661 | ||||||
| chr17:29970661 | C | CACACACA others(9): Show |
1 | a0003c0003t0002g0216 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.767+1301_767+1302i others(18): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29970661 | ||||||
| chr17:29970663 | C | CACACACA others(13): Show |
6 | a0003c0003t0002g0140 a0003c0003t0002g0141 a0003c0003t0002g0142 others(3): Show |
6 | HG00741.hp1 HG01243.hp2 HG01516.hp1 others(3): Show |
intron_variant | MODIFIER | c.767+1301_767+1302i others(22): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29970663 | ||||||
| chr17:29970663 | C | CACACACA others(11): Show |
2 | a0003c0003t0002g0213 a0003c0003t0002g0214 |
2 | HG01884.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.767+1301_767+1302i others(20): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29970663 | ||||||
| chr17:29970663 | C | CACACACA others(9): Show |
1 | a0003c0003t0002g0131 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.767+1301_767+1302i others(18): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29970663 | ||||||
| chr17:29970663 | C | CACACACA others(7): Show |
4 | a0003c0003t0002g0129 a0003c0003t0002g0134 a0003c0003t0002g0135 others(1): Show |
4 | HG02486.hp1 HG03098.hp2 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.767+1301_767+1302i others(16): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29970663 | ||||||
| chr17:29970663 | C | CACACACA others(3): Show |
1 | a0003c0003t0002g0130 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.767+1301_767+1302i others(12): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29970663 | ||||||
| chr17:29970663 | CACACAT | C | 4 | a0004c0004t0002g0099 a0004c0004t0002g0101 a0007c0009t0002g0102 others(1): Show |
4 | HG03195.hp1 HG03453.hp1 NA19240.hp1 others(1): Show |
intron_variant | MODIFIER | c.767+1302_767+1307d others(8): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29970663 | ||||||
| chr17:29970665 | C | CACACACA others(23): Show |
2 | a0009c0011t0002g0020 a0009c0011t0002g0021 |
2 | HG01891.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.767+1301_767+1302i others(32): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29970665 | ||||||
| chr17:29970667 | C | CACACACA others(9): Show |
2 | a0006c0008t0002g0016 a0006c0008t0002g0017 |
2 | HG02723.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.767+1301_767+1302i others(18): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29970667 | ||||||
| chr17:29970667 | C | CACACACA others(7): Show |
2 | a0002c0020t0002g0019 a0006c0008t0002g0018 |
2 | HG02615.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.767+1301_767+1302i others(16): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29970667 | ||||||
| chr17:29970667 | C | CACACACA others(3): Show |
3 | a0001c0001t0001g0107 a0001c0001t0001g0113 a0002c0002t0002g0091 |
3 | NA18906.hp2 NA19000.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.767+1301_767+1302i others(12): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29970667 | ||||||
| chr17:29970667 | CAT | C | 3 | a0004c0004t0002g0097 a0004c0004t0002g0098 a0004c0004t0002g0100 |
3 | HG02895.hp1 HG02896.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.767+1302_767+1303d others(4): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29970667 | ||||||
| chr17:29970669 | T | C | 42 | a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0113 others(39): Show |
42 | HG00408.hp1 HG00408.hp2 HG00741.hp1 others(39): Show |
intron_variant | MODIFIER | c.767+1302T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29970669 | |||||||
| chr17:29970670 | A | G | 4 | a0003c0006t0002g0003 a0003c0006t0002g0004 a0003c0006t0002g0005 others(1): Show |
4 | HG02895.hp2 HG03486.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.767+1303A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29970670 | |||||||
| chr17:29970671 | C | CACACAT | 3 | a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0084 |
3 | HG01256.hp1 HG03834.hp1 NA19066.hp2 |
intron_variant | MODIFIER | c.767+1309_767+1310i others(8): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29970671 | ||||||
| chr17:29970671 | C | T | 1 | a0001c0001t0001g0118 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.767+1304C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29970671 | |||||||
| chr17:29970673 | C | T | 8 | a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0146 others(5): Show |
8 | HG00408.hp1 HG01243.hp1 HG01884.hp2 others(5): Show |
intron_variant | MODIFIER | c.767+1306C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29970673 | |||||||
| chr17:29970692 | A | C | 1 | a0004c0004t0002g0100 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.767+1325A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29970692 | |||||||
| chr17:29970935 | C | T | 1 | a0002c0002t0002g0027 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.767+1568C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29970935 | |||||||
| chr17:29971006 | C | T | 3 | a0009c0011t0002g0020 a0009c0011t0002g0021 a0013c0021t0002g0012 |
3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.767+1639C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29971006 | |||||||
| chr17:29971073 | C | CA | 115 | a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0013 others(112): Show |
116 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(113): Show |
intron_variant | MODIFIER | c.767+1719dupA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29971073 | ||||||
| chr17:29971131 | A | G | 10 | a0003c0003t0002g0132 a0003c0003t0002g0133 a0003c0003t0002g0134 others(7): Show |
10 | HG00741.hp1 HG01243.hp2 HG01516.hp1 others(7): Show |
intron_variant | MODIFIER | c.767+1764A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29971131 | |||||||
| chr17:29972004 | G | A | 4 | a0003c0006t0002g0003 a0003c0006t0002g0004 a0003c0006t0002g0005 others(1): Show |
4 | HG02895.hp2 HG03486.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.767+2637G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29972004 | |||||||
| chr17:29972057 | A | T | 1 | a0001c0001t0001g0112 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.767+2690A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29972057 | |||||||
| chr17:29972078 | C | T | 1 | a0001c0001t0001g0180 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.767+2711C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29972078 | |||||||
| chr17:29972204 | A | AT | 143 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(140): Show |
144 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(141): Show |
intron_variant | MODIFIER | c.767+2855dupT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29972204 | ||||||
| chr17:29972204 | A | ATT | 32 | a0001c0001t0001g0114 a0001c0001t0001g0166 a0001c0001t0001g0197 others(29): Show |
32 | HG00099.hp1 HG00280.hp1 HG00642.hp2 others(29): Show |
intron_variant | MODIFIER | c.767+2854_767+2855d others(4): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29972204 | ||||||
| chr17:29972292 | G | A | 1 | a0001c0001t0001g0247 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.767+2925G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29972292 | |||||||
| chr17:29972312 | G | A | 1 | a0003c0013t0002g0217 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.767+2945G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29972312 | |||||||
| chr17:29972331 | G | T | 1 | a0001c0001t0001g0151 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.767+2964G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29972331 | |||||||
| chr17:29972623 | C | T | 1 | a0001c0001t0001g0244 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.767+3256C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29972623 | |||||||
| chr17:29972647 | G | A | 1 | a0003c0013t0002g0217 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.767+3280G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29972647 | |||||||
| chr17:29972712 | A | T | 1 | a0011c0025t0001g0181 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.767+3345A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29972712 | |||||||
| chr17:29972785 | C | T | 1 | a0001c0001t0001g0222 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.767+3418C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29972785 | |||||||
| chr17:29972905 | G | A | 1 | a0002c0002t0002g0036 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.767+3538G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29972905 | |||||||
| chr17:29973101 | G | T | 1 | a0002c0002t0002g0001 | 2 | HG00639.hp1 HG00733.hp1 |
intron_variant | MODIFIER | c.767+3734G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29973101 | |||||||
| chr17:29973126 | T | C | 123 | a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0013 others(120): Show |
124 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(121): Show |
intron_variant | MODIFIER | c.767+3759T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29973126 | |||||||
| chr17:29973325 | G | C | 1 | a0002c0005t0002g0038 | 1 | NA18963.hp2 | intron_variant | MODIFIER | c.767+3958G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29973325 | |||||||
| chr17:29973388 | T | C | 3 | a0009c0011t0002g0020 a0009c0011t0002g0021 a0013c0021t0002g0012 |
3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.767+4021T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29973388 | |||||||
| chr17:29973461 | C | T | 38 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(35): Show |
38 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(35): Show |
intron_variant | MODIFIER | c.767+4094C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29973461 | |||||||
| chr17:29973480 | C | CT | 10 | a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0194 others(7): Show |
10 | HG00099.hp1 HG01123.hp1 HG01496.hp1 others(7): Show |
intron_variant | MODIFIER | c.767+4130dupT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29973480 | ||||||
| chr17:29973480 | CT | C | 7 | a0001c0001t0001g0211 a0001c0001t0001g0247 a0002c0019t0002g0039 others(4): Show |
7 | HG01433.hp1 HG02486.hp1 HG02630.hp2 others(4): Show |
intron_variant | MODIFIER | c.767+4130delT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29973480 | ||||||
| chr17:29973765 | C | A | 9 | a0004c0004t0002g0015 a0004c0004t0002g0097 a0004c0004t0002g0098 others(6): Show |
9 | HG02055.hp1 HG02895.hp1 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.767+4398C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29973765 | |||||||
| chr17:29973929 | G | A | 3 | a0005c0007t0002g0136 a0005c0007t0002g0137 a0005c0007t0002g0138 |
3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.767+4562G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29973929 | |||||||
| chr17:29974037 | A | T | 9 | a0004c0004t0002g0015 a0004c0004t0002g0097 a0004c0004t0002g0098 others(6): Show |
9 | HG02055.hp1 HG02895.hp1 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.767+4670A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29974037 | |||||||
| chr17:29974156 | T | TA | 28 | a0003c0003t0002g0132 a0003c0003t0002g0133 a0003c0003t0002g0134 others(25): Show |
28 | HG00741.hp1 HG01243.hp2 HG01516.hp1 others(25): Show |
intron_variant | MODIFIER | c.767+4804dupA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29974156 | ||||||
| chr17:29975027 | A | AAAAT | 12 | a0001c0001t0001g0156 a0001c0001t0001g0193 a0003c0003t0002g0132 others(9): Show |
12 | HG00741.hp1 HG01243.hp2 HG01516.hp1 others(9): Show |
intron_variant | MODIFIER | c.767+5684_767+5687d others(6): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29975027 | ||||||
| chr17:29975260 | T | A | 1 | a0001c0001t0001g0206 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.767+5893T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29975260 | |||||||
| chr17:29975282 | G | A | 3 | a0005c0007t0002g0136 a0005c0007t0002g0137 a0005c0007t0002g0138 |
3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.767+5915G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29975282 | |||||||
| chr17:29975380 | C | T | 1 | a0001c0001t0001g0120 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.767+6013C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29975380 | |||||||
| chr17:29975403 | G | T | 6 | a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0146 others(3): Show |
6 | HG01243.hp1 HG01884.hp2 HG02258.hp2 others(3): Show |
intron_variant | MODIFIER | c.767+6036G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29975403 | |||||||
| chr17:29975783 | C | T | 4 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(1): Show |
4 | HG01433.hp1 HG02486.hp1 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.767+6416C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29975783 | |||||||
| chr17:29976052 | G | A | 5 | a0001c0001t0001g0152 a0002c0002t0002g0040 a0002c0002t0002g0067 others(2): Show |
5 | HG00140.hp2 HG01255.hp2 HG01934.hp1 others(2): Show |
intron_variant | MODIFIER | c.767+6685G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29976052 | |||||||
| chr17:29976433 | C | G | 1 | a0013c0021t0002g0012 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.767+7066C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29976433 | |||||||
| chr17:29976524 | T | G | 1 | a0001c0001t0001g0115 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.767+7157T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29976524 | |||||||
| chr17:29976585 | G | A | 1 | a0011c0025t0001g0181 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.767+7218G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29976585 | |||||||
| chr17:29976639 | T | C | 1 | a0001c0001t0001g0120 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.767+7272T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29976639 | |||||||
| chr17:29977237 | T | C | 3 | a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 |
3 | HG00099.hp1 HG01123.hp1 HG01496.hp1 |
intron_variant | MODIFIER | c.767+7870T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29977237 | |||||||
| chr17:29977306 | A | G | 1 | a0002c0002t0002g0105 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.767+7939A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29977306 | |||||||
| chr17:29977316 | G | A | 3 | a0009c0011t0002g0020 a0009c0011t0002g0021 a0013c0021t0002g0012 |
3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.767+7949G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29977316 | |||||||
| chr17:29977467 | A | G | 1 | a0001c0001t0001g0200 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.767+8100A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29977467 | |||||||
| chr17:29977981 | T | A | 1 | a0003c0003t0002g0129 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.767+8614T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29977981 | |||||||
| chr17:29977999 | A | G | 212 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(209): Show |
213 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(210): Show |
intron_variant | MODIFIER | c.767+8632A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29977999 | |||||||
| chr17:29978350 | G | A | 1 | a0002c0002t0002g0034 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.767+8983G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29978350 | |||||||
| chr17:29978598 | A | G | 1 | a0003c0003t0002g0131 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.767+9231A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29978598 | |||||||
| chr17:29978656 | C | T | 81 | a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0013 others(78): Show |
82 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(79): Show |
intron_variant | MODIFIER | c.767+9289C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29978656 | |||||||
| chr17:29978711 | A | G | 3 | a0009c0011t0002g0020 a0009c0011t0002g0021 a0013c0021t0002g0012 |
3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.767+9344A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29978711 | |||||||
| chr17:29978833 | G | C | 3 | a0009c0011t0002g0020 a0009c0011t0002g0021 a0013c0021t0002g0012 |
3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.767+9466G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29978833 | |||||||
| chr17:29979183 | C | T | 1 | a0002c0002t0002g0095 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.767+9816C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29979183 | |||||||
| chr17:29979275 | G | A | 2 | a0001c0001t0001g0111 a0001c0001t0001g0112 |
2 | HG02257.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.767+9908G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29979275 | |||||||
| chr17:29979516 | C | G | 19 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(16): Show |
19 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(16): Show |
intron_variant | MODIFIER | c.767+10149C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29979516 | |||||||
| chr17:29979615 | T | C | 1 | a0001c0001t0001g0205 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.767+10248T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29979615 | |||||||
| chr17:29979856 | T | C | 19 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(16): Show |
19 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(16): Show |
intron_variant | MODIFIER | c.767+10489T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29979856 | |||||||
| chr17:29979896 | C | T | 6 | a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0146 others(3): Show |
6 | HG01243.hp1 HG01884.hp2 HG02258.hp2 others(3): Show |
intron_variant | MODIFIER | c.767+10529C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29979896 | |||||||
| chr17:29980082 | T | G | 1 | a0002c0017t0002g0035 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.767+10715T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29980082 | |||||||
| chr17:29980170 | A | C | 1 | a0011c0025t0001g0181 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.767+10803A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29980170 | |||||||
| chr17:29980415 | T | A | 1 | a0006c0008t0002g0018 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.767+11048T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29980415 | |||||||
| chr17:29980941 | T | A | 1 | a0001c0001t0001g0167 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.767+11574T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29980941 | |||||||
| chr17:29981370 | C | T | 1 | a0001c0001t0001g0118 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.768-11795C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29981370 | |||||||
| chr17:29981426 | C | T | 1 | a0001c0001t0001g0178 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.768-11739C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29981426 | |||||||
| chr17:29981722 | G | T | 198 | a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 others(195): Show |
199 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(196): Show |
intron_variant | MODIFIER | c.768-11443G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29981722 | |||||||
| chr17:29982209 | G | A | 1 | a0001c0001t0001g0146 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.768-10956G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29982209 | |||||||
| chr17:29982390 | C | CA | 7 | a0001c0026t0004g0159 a0003c0003t0002g0140 a0003c0003t0002g0141 others(4): Show |
7 | HG00408.hp1 HG00741.hp1 HG01243.hp2 others(4): Show |
intron_variant | MODIFIER | c.768-10765dupA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29982390 | ||||||
| chr17:29982440 | CA | C | 4 | a0002c0020t0002g0019 a0006c0008t0002g0016 a0006c0008t0002g0017 others(1): Show |
4 | HG02615.hp2 HG02723.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.768-10724delA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29982440 | |||||||
| chr17:29982447 | G | A | 9 | a0004c0004t0002g0015 a0004c0004t0002g0097 a0004c0004t0002g0098 others(6): Show |
9 | HG02055.hp1 HG02895.hp1 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.768-10718G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29982447 | |||||||
| chr17:29982738 | G | A | 3 | a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0113 |
3 | HG03139.hp2 NA18906.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.768-10427G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29982738 | |||||||
| chr17:29982742 | A | G | 3 | a0009c0011t0002g0020 a0009c0011t0002g0021 a0013c0021t0002g0012 |
3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.768-10423A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29982742 | |||||||
| chr17:29982958 | G | A | 3 | a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0113 |
3 | HG03139.hp2 NA18906.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.768-10207G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29982958 | |||||||
| chr17:29983282 | C | T | 29 | a0002c0005t0002g0063 a0003c0003t0002g0129 a0003c0003t0002g0130 others(26): Show |
29 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(26): Show |
intron_variant | MODIFIER | c.768-9883C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29983282 | |||||||
| chr17:29983323 | G | A | 1 | a0001c0001t0001g0188 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.768-9842G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29983323 | |||||||
| chr17:29983712 | G | C | 1 | a0002c0002t0002g0064 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.768-9453G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29983712 | |||||||
| chr17:29983988 | T | G | 1 | a0005c0007t0002g0138 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.768-9177T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29983988 | |||||||
| chr17:29984269 | G | C | 1 | a0001c0001t0001g0120 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.768-8896G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29984269 | |||||||
| chr17:29984417 | C | G | 9 | a0004c0004t0002g0015 a0004c0004t0002g0097 a0004c0004t0002g0098 others(6): Show |
9 | HG02055.hp1 HG02895.hp1 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.768-8748C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29984417 | |||||||
| chr17:29984485 | C | T | 1 | a0003c0003t0002g0135 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.768-8680C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29984485 | |||||||
| chr17:29984527 | G | A | 1 | a0002c0002t0002g0022 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.768-8638G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29984527 | |||||||
| chr17:29985265 | C | T | 1 | a0013c0021t0002g0012 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.768-7900C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29985265 | |||||||
| chr17:29985341 | A | G | 1 | a0003c0003t0002g0215 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.768-7824A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29985341 | |||||||
| chr17:29985622 | A | G | 1 | a0001c0001t0001g0115 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.768-7543A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29985622 | |||||||
| chr17:29985717 | T | C | 1 | a0003c0003t0002g0142 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.768-7448T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29985717 | |||||||
| chr17:29985766 | G | A | 6 | a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 others(3): Show |
6 | HG01081.hp2 HG01109.hp2 HG01261.hp1 others(3): Show |
intron_variant | MODIFIER | c.768-7399G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29985766 | |||||||
| chr17:29985918 | C | T | 1 | a0001c0001t0001g0120 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.768-7247C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29985918 | |||||||
| chr17:29985975 | T | C | 126 | a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0113 others(123): Show |
127 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(124): Show |
intron_variant | MODIFIER | c.768-7190T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29985975 | |||||||
| chr17:29986109 | G | A | 3 | a0005c0007t0002g0136 a0005c0007t0002g0137 a0005c0007t0002g0138 |
3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.768-7056G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29986109 | |||||||
| chr17:29986151 | T | C | 1 | a0001c0001t0001g0208 | 1 | NA19001.hp2 | intron_variant | MODIFIER | c.768-7014T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29986151 | |||||||
| chr17:29986176 | C | T | 85 | a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0013 others(82): Show |
86 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(83): Show |
intron_variant | MODIFIER | c.768-6989C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29986176 | |||||||
| chr17:29986274 | C | T | 3 | a0009c0011t0002g0020 a0009c0011t0002g0021 a0013c0021t0002g0012 |
3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.768-6891C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29986274 | |||||||
| chr17:29986323 | C | A | 10 | a0003c0003t0002g0132 a0003c0003t0002g0133 a0003c0003t0002g0134 others(7): Show |
10 | HG00741.hp1 HG01243.hp2 HG01516.hp1 others(7): Show |
intron_variant | MODIFIER | c.768-6842C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29986323 | |||||||
| chr17:29986344 | G | A | 2 | a0001c0001t0001g0156 a0001c0001t0001g0193 |
2 | HG02735.hp2 HG04204.hp2 |
intron_variant | MODIFIER | c.768-6821G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29986344 | |||||||
| chr17:29986509 | C | A | 2 | a0005c0007t0002g0136 a0005c0007t0002g0137 |
2 | HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.768-6656C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29986509 | |||||||
| chr17:29986637 | A | AT | 94 | a0001c0001t0001g0011 a0001c0001t0001g0107 a0001c0001t0001g0109 others(91): Show |
95 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(92): Show |
intron_variant | MODIFIER | c.768-6499dupT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29986637 | ||||||
| chr17:29986637 | A | ATT | 27 | a0001c0001t0001g0010 a0001c0001t0001g0108 a0001c0001t0001g0121 others(24): Show |
27 | HG01109.hp2 HG01243.hp1 HG01261.hp1 others(24): Show |
intron_variant | MODIFIER | c.768-6500_768-6499d others(4): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29986637 | ||||||
| chr17:29986637 | A | ATTT | 11 | a0001c0001t0001g0149 a0002c0002t0002g0031 a0003c0006t0002g0003 others(8): Show |
11 | HG01361.hp2 HG01496.hp2 HG02055.hp1 others(8): Show |
intron_variant | MODIFIER | c.768-6501_768-6499d others(5): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29986637 | ||||||
| chr17:29986637 | A | ATTTTTTT | 9 | a0003c0003t0002g0131 a0003c0003t0002g0133 a0003c0003t0002g0134 others(6): Show |
9 | HG00741.hp1 HG01243.hp2 HG02451.hp1 others(6): Show |
intron_variant | MODIFIER | c.768-6505_768-6499d others(9): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29986637 | ||||||
| chr17:29986637 | A | ATTTTTTT others(3): Show |
4 | a0003c0003t0002g0213 a0003c0003t0002g0214 a0003c0003t0002g0215 others(1): Show |
4 | HG01884.hp1 HG02559.hp2 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.768-6508_768-6499d others(12): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29986637 | ||||||
| chr17:29986637 | A | T | 5 | a0001c0001t0001g0155 a0001c0001t0001g0164 a0001c0001t0001g0204 others(2): Show |
5 | HG01952.hp2 HG02622.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.768-6528A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29986637 | |||||||
| chr17:29986637 | AT | A | 5 | a0001c0001t0001g0115 a0001c0001t0001g0124 a0001c0001t0001g0125 others(2): Show |
5 | HG01069.hp2 HG01071.hp2 HG01496.hp1 others(2): Show |
intron_variant | MODIFIER | c.768-6499delT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29986637 | ||||||
| chr17:29986686 | G | A | 2 | a0009c0011t0002g0020 a0009c0011t0002g0021 |
2 | HG01891.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.768-6479G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29986686 | |||||||
| chr17:29986869 | G | A | 1 | a0001c0001t0001g0007 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.768-6296G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29986869 | |||||||
| chr17:29986927 | G | A | 19 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(16): Show |
19 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(16): Show |
intron_variant | MODIFIER | c.768-6238G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29986927 | |||||||
| chr17:29987204 | G | T | 1 | a0001c0001t0001g0148 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.768-5961G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29987204 | |||||||
| chr17:29987232 | C | T | 3 | a0005c0007t0002g0136 a0005c0007t0002g0137 a0005c0007t0002g0138 |
3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.768-5933C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29987232 | |||||||
| chr17:29987368 | C | T | 4 | a0003c0006t0002g0003 a0003c0006t0002g0004 a0003c0006t0002g0005 others(1): Show |
4 | HG02895.hp2 HG03486.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.768-5797C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29987368 | |||||||
| chr17:29987465 | G | A | 3 | a0005c0007t0002g0136 a0005c0007t0002g0137 a0005c0007t0002g0138 |
3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.768-5700G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29987465 | |||||||
| chr17:29988088 | G | A | 6 | a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0146 others(3): Show |
6 | HG01243.hp1 HG01884.hp2 HG02258.hp2 others(3): Show |
intron_variant | MODIFIER | c.768-5077G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29988088 | |||||||
| chr17:29988106 | A | C | 9 | a0004c0004t0002g0015 a0004c0004t0002g0097 a0004c0004t0002g0098 others(6): Show |
9 | HG02055.hp1 HG02895.hp1 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.768-5059A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29988106 | |||||||
| chr17:29988124 | T | C | 2 | a0001c0001t0001g0114 a0001c0001t0001g0117 |
2 | HG01346.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.768-5041T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29988124 | |||||||
| chr17:29988136 | C | G | 1 | a0003c0013t0002g0217 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.768-5029C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29988136 | |||||||
| chr17:29988488 | C | T | 2 | a0003c0003t0002g0213 a0003c0003t0002g0214 |
2 | HG01884.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.768-4677C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29988488 | |||||||
| chr17:29988710 | A | G | 3 | a0007c0009t0002g0102 a0007c0009t0002g0103 a0007c0009t0002g0104 |
3 | HG02922.hp2 HG03195.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.768-4455A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29988710 | |||||||
| chr17:29989136 | A | T | 1 | a0001c0001t0001g0222 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.768-4029A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29989136 | |||||||
| chr17:29989357 | C | T | 9 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(6): Show |
9 | HG01433.hp1 HG01884.hp1 HG02486.hp1 others(6): Show |
intron_variant | MODIFIER | c.768-3808C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29989357 | |||||||
| chr17:29989386 | C | T | 1 | a0001c0001t0001g0209 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.768-3779C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29989386 | |||||||
| chr17:29989387 | G | A | 3 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0002c0002t0002g0065 |
3 | HG02257.hp1 HG02486.hp2 HG04115.hp1 |
intron_variant | MODIFIER | c.768-3778G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29989387 | |||||||
| chr17:29989393 | C | A | 1 | a0014c0015t0002g0078 | 1 | NA19064.hp1 | intron_variant | MODIFIER | c.768-3772C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29989393 | |||||||
| chr17:29989460 | G | A | 2 | a0001c0001t0001g0121 a0001c0001t0001g0122 |
2 | HG01243.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.768-3705G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29989460 | |||||||
| chr17:29989670 | A | AT | 28 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(25): Show |
28 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(25): Show |
intron_variant | MODIFIER | c.768-3489dupT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | 29989670 | ||||||
| chr17:29989841 | G | A | 1 | a0002c0002t0002g0085 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.768-3324G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29989841 | |||||||
| chr17:29989973 | G | A | 1 | a0005c0007t0002g0138 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.768-3192G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29989973 | |||||||
| chr17:29990133 | T | A | 9 | a0004c0004t0002g0015 a0004c0004t0002g0097 a0004c0004t0002g0098 others(6): Show |
9 | HG02055.hp1 HG02895.hp1 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.768-3032T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29990133 | |||||||
| chr17:29990188 | T | G | 1 | a0001c0001t0001g0193 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.768-2977T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29990188 | |||||||
| chr17:29990546 | A | G | 35 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(32): Show |
35 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(32): Show |
intron_variant | MODIFIER | c.768-2619A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29990546 | |||||||
| chr17:29990576 | C | A | 1 | a0005c0007t0002g0138 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.768-2589C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29990576 | |||||||
| chr17:29990639 | A | T | 82 | a0001c0012t0001g0196 a0002c0002t0002g0001 a0002c0002t0002g0002 others(79): Show |
83 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(80): Show |
intron_variant | MODIFIER | c.768-2526A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29990639 | |||||||
| chr17:29990718 | T | G | 1 | a0002c0002t0002g0068 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.768-2447T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29990718 | |||||||
| chr17:29990861 | T | C | 3 | a0009c0011t0002g0020 a0009c0011t0002g0021 a0013c0021t0002g0012 |
3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.768-2304T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29990861 | |||||||
| chr17:29991049 | C | A | 1 | a0003c0003t0002g0135 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.768-2116C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29991049 | |||||||
| chr17:29991058 | T | C | 3 | a0005c0007t0002g0136 a0005c0007t0002g0137 a0005c0007t0002g0138 |
3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.768-2107T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29991058 | |||||||
| chr17:29991297 | C | T | 1 | a0001c0001t0001g0117 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.768-1868C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29991297 | |||||||
| chr17:29991380 | G | A | 28 | a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0162 others(25): Show |
28 | HG00140.hp2 HG00733.hp2 HG01168.hp1 others(25): Show |
intron_variant | MODIFIER | c.768-1785G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29991380 | |||||||
| chr17:29991909 | A | G | 9 | a0004c0004t0002g0015 a0004c0004t0002g0097 a0004c0004t0002g0098 others(6): Show |
9 | HG02055.hp1 HG02895.hp1 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.768-1256A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29991909 | |||||||
| chr17:29992015 | A | G | 1 | a0004c0004t0002g0100 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.768-1150A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29992015 | |||||||
| chr17:29992370 | C | G | 3 | a0009c0011t0002g0020 a0009c0011t0002g0021 a0013c0021t0002g0012 |
3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.768-795C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29992370 | |||||||
| chr17:29992409 | G | A | 75 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(72): Show |
75 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(72): Show |
intron_variant | MODIFIER | c.768-756G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29992409 | |||||||
| chr17:29992472 | C | T | 1 | a0003c0003t0002g0215 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.768-693C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29992472 | |||||||
| chr17:29992508 | C | T | 1 | a0001c0001t0001g0169 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.768-657C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29992508 | |||||||
| chr17:29992520 | G | A | 3 | a0005c0007t0002g0136 a0005c0007t0002g0137 a0005c0007t0002g0138 |
3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.768-645G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29992520 | |||||||
| chr17:29992868 | C | A | 1 | a0002c0002t0002g0044 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.768-297C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29992868 | |||||||
| chr17:29993066 | A | T | 5 | a0003c0003t0002g0213 a0003c0003t0002g0214 a0003c0003t0002g0215 others(2): Show |
5 | HG01884.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.768-99A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29993066 | |||||||
| chr17:29993124 | G | A | 32 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(29): Show |
32 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(29): Show |
intron_variant | MODIFIER | c.768-41G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | chr17 | 29993124 | |||||||
| chr17:29993455 | G | T | 81 | a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0013 others(78): Show |
82 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(79): Show |
intron_variant | MODIFIER | c.924+134G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | chr17 | 29993455 | |||||||
| chr17:29993885 | G | A | 1 | a0003c0003t0002g0216 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.924+564G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | chr17 | 29993885 | |||||||
| chr17:29993959 | G | A | 2 | a0002c0002t0002g0029 a0002c0002t0002g0030 |
2 | HG00741.hp2 HG01346.hp1 |
intron_variant | MODIFIER | c.924+638G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | chr17 | 29993959 | |||||||
| chr17:29993969 | A | G | 3 | a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 |
3 | HG01346.hp2 HG03453.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.924+648A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | chr17 | 29993969 | |||||||
| chr17:29994098 | C | T | 3 | a0001c0001t0001g0148 a0001c0001t0001g0176 a0001c0001t0001g0177 |
3 | HG01891.hp2 HG01934.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.924+777C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | chr17 | 29994098 | |||||||
| chr17:29994133 | A | AAT | 32 | a0001c0001t0001g0011 a0001c0001t0001g0115 a0001c0001t0001g0122 others(29): Show |
32 | HG00280.hp2 HG00323.hp2 HG00621.hp2 others(29): Show |
intron_variant | MODIFIER | c.924+855_924+856dup others(2): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr17 | 29994133 | ||||||
| chr17:29994133 | A | AATAT | 12 | a0001c0001t0001g0009 a0001c0001t0001g0107 a0001c0001t0001g0121 others(9): Show |
13 | HG00408.hp2 HG00639.hp1 HG00733.hp1 others(10): Show |
intron_variant | MODIFIER | c.924+853_924+856dup others(4): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr17 | 29994133 | ||||||
| chr17:29994133 | A | AATATAT | 15 | a0001c0001t0001g0108 a0001c0001t0001g0170 a0001c0001t0001g0176 others(12): Show |
15 | HG00639.hp2 HG00642.hp2 HG01167.hp1 others(12): Show |
intron_variant | MODIFIER | c.924+851_924+856dup others(6): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr17 | 29994133 | ||||||
| chr17:29994133 | A | AATATATA others(1): Show |
11 | a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0207 others(8): Show |
11 | HG00408.hp1 HG00642.hp1 HG01109.hp2 others(8): Show |
intron_variant | MODIFIER | c.924+849_924+856dup others(8): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr17 | 29994133 | ||||||
| chr17:29994133 | A | AATATATA others(3): Show |
5 | a0001c0001t0001g0224 a0001c0001t0001g0242 a0002c0002t0002g0041 others(2): Show |
5 | HG01070.hp1 HG01071.hp1 HG01256.hp1 others(2): Show |
intron_variant | MODIFIER | c.924+847_924+856dup others(10): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr17 | 29994133 | ||||||
| chr17:29994133 | A | AATATATA others(5): Show |
2 | a0002c0002t0002g0083 a0002c0002t0002g0087 |
2 | HG02735.hp1 NA19067.hp1 |
intron_variant | MODIFIER | c.924+845_924+856dup others(12): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr17 | 29994133 | ||||||
| chr17:29994133 | A | AATATATA others(7): Show |
1 | a0001c0001t0001g0010 | 1 | NA19001.hp1 | intron_variant | MODIFIER | c.924+843_924+856dup others(14): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr17 | 29994133 | ||||||
| chr17:29994133 | A | AATATATA others(11): Show |
1 | a0012c0027t0002g0082 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.924+839_924+856dup others(18): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr17 | 29994133 | ||||||
| chr17:29994133 | AAT | A | 21 | a0001c0001t0001g0007 a0001c0001t0001g0148 a0001c0001t0001g0150 others(18): Show |
21 | HG00099.hp2 HG01099.hp2 HG01167.hp2 others(18): Show |
intron_variant | MODIFIER | c.924+855_924+856del others(2): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr17 | 29994133 | ||||||
| chr17:29994133 | AATAT | A | 27 | a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0124 others(24): Show |
27 | HG01069.hp2 HG01070.hp2 HG01071.hp2 others(24): Show |
intron_variant | MODIFIER | c.924+853_924+856del others(4): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr17 | 29994133 | ||||||
| chr17:29994133 | AATATAT | A | 14 | a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0119 others(11): Show |
14 | HG01433.hp1 HG01496.hp1 HG01884.hp1 others(11): Show |
intron_variant | MODIFIER | c.924+851_924+856del others(6): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr17 | 29994133 | ||||||
| chr17:29994133 | AATATATA others(1): Show |
A | 12 | a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0123 others(9): Show |
12 | HG01168.hp1 HG01517.hp1 HG02055.hp2 others(9): Show |
intron_variant | MODIFIER | c.924+849_924+856del others(8): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr17 | 29994133 | ||||||
| chr17:29994133 | AATATATA others(3): Show |
A | 8 | a0001c0001t0001g0111 a0001c0001t0001g0152 a0001c0001t0001g0162 others(5): Show |
8 | HG00140.hp2 HG00733.hp2 HG01261.hp2 others(5): Show |
intron_variant | MODIFIER | c.924+847_924+856del others(10): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr17 | 29994133 | ||||||
| chr17:29994133 | AATATATA others(5): Show |
A | 25 | a0001c0001t0001g0120 a0001c0001t0001g0179 a0001c0001t0001g0185 others(22): Show |
25 | HG00280.hp1 HG01168.hp2 HG01169.hp2 others(22): Show |
intron_variant | MODIFIER | c.924+845_924+856del others(12): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr17 | 29994133 | ||||||
| chr17:29994133 | AATATATA others(7): Show |
A | 7 | a0001c0001t0001g0156 a0004c0004t0002g0097 a0004c0004t0002g0098 others(4): Show |
7 | HG02895.hp1 HG02896.hp1 HG02922.hp2 others(4): Show |
intron_variant | MODIFIER | c.924+843_924+856del others(14): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr17 | 29994133 | ||||||
| chr17:29994133 | AATATATA others(9): Show |
A | 5 | a0002c0002t0002g0095 a0003c0003t0002g0144 a0004c0004t0002g0099 others(2): Show |
5 | HG00741.hp1 HG01934.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.924+841_924+856del others(16): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr17 | 29994133 | ||||||
| chr17:29994133 | AATATATA others(11): Show |
A | 4 | a0002c0002t0002g0089 a0002c0020t0002g0019 a0003c0006t0002g0005 others(1): Show |
4 | HG00621.hp1 HG02615.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.924+839_924+856del others(18): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr17 | 29994133 | ||||||
| chr17:29994133 | AATATATA others(13): Show |
A | 3 | a0006c0008t0002g0016 a0006c0008t0002g0017 a0013c0021t0002g0012 |
3 | HG02723.hp2 HG03130.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.924+837_924+856del others(20): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr17 | 29994133 | ||||||
| chr17:29994133 | AATATATA others(15): Show |
A | 2 | a0009c0011t0002g0020 a0009c0011t0002g0021 |
2 | HG01891.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.924+835_924+856del others(22): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr17 | 29994133 | ||||||
| chr17:29994133 | AATATATA others(21): Show |
A | 1 | a0002c0002t0002g0061 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.924+829_924+856del others(28): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr17 | 29994133 | ||||||
| chr17:29994167 | T | TATATATA others(7): Show |
1 | a0001c0001t0001g0223 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.924+856_924+857ins others(14): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr17 | 29994167 | ||||||
| chr17:29994178 | G | A | 2 | a0001c0001t0001g0225 a0002c0002t0002g0042 |
2 | HG02523.hp1 HG02698.hp1 |
intron_variant | MODIFIER | c.924+857G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | chr17 | 29994178 | |||||||
| chr17:29994208 | G | A | 123 | a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0013 others(120): Show |
124 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(121): Show |
intron_variant | MODIFIER | c.924+887G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | chr17 | 29994208 | |||||||
| chr17:29994310 | T | A | 143 | a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 others(140): Show |
144 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(141): Show |
intron_variant | MODIFIER | c.924+989T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | chr17 | 29994310 | |||||||
| chr17:29994360 | A | C | 2 | a0002c0002t0002g0076 a0002c0002t0002g0077 |
2 | HG01168.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.924+1039A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | chr17 | 29994360 | |||||||
| chr17:29995015 | G | A | 1 | a0002c0002t0002g0033 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.925-1297G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | chr17 | 29995015 | |||||||
| chr17:29995173 | C | G | 38 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(35): Show |
38 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(35): Show |
intron_variant | MODIFIER | c.925-1139C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | chr17 | 29995173 | |||||||
| chr17:29995332 | C | T | 9 | a0004c0004t0002g0015 a0004c0004t0002g0097 a0004c0004t0002g0098 others(6): Show |
9 | HG02055.hp1 HG02895.hp1 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.925-980C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | chr17 | 29995332 | |||||||
| chr17:29995917 | C | T | 81 | a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0013 others(78): Show |
82 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(79): Show |
intron_variant | MODIFIER | c.925-395C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | chr17 | 29995917 | |||||||
| chr17:29995923 | G | A | 85 | a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0013 others(82): Show |
86 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(83): Show |
intron_variant | MODIFIER | c.925-389G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | chr17 | 29995923 | |||||||
| chr17:29996481 | A | G | 122 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(119): Show |
122 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(119): Show |
intron_variant | MODIFIER | c.973+121A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | chr17 | 29996481 | |||||||
| chr17:29996528 | C | T | 3 | a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0113 |
3 | HG03139.hp2 NA18906.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.973+168C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | chr17 | 29996528 | |||||||
| chr17:29996539 | T | C | 1 | a0005c0007t0002g0138 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.973+179T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | chr17 | 29996539 | |||||||
| chr17:29996657 | T | G | 2 | a0001c0001t0001g0156 a0001c0001t0001g0193 |
2 | HG02735.hp2 HG04204.hp2 |
intron_variant | MODIFIER | c.973+297T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | chr17 | 29996657 | |||||||
| chr17:29996723 | T | C | 38 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(35): Show |
38 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(35): Show |
intron_variant | MODIFIER | c.973+363T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | chr17 | 29996723 | |||||||
| chr17:29996942 | C | G | 1 | a0001c0001t0001g0179 | 1 | NA19089.hp2 | intron_variant | MODIFIER | c.973+582C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | chr17 | 29996942 | |||||||
| chr17:29997036 | A | G | 1 | a0002c0002t0002g0056 | 1 | NA19080.hp2 | intron_variant | MODIFIER | c.973+676A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | chr17 | 29997036 | |||||||
| chr17:29997243 | TA | T | 5 | a0001c0001t0001g0007 a0001c0001t0001g0203 a0001c0001t0001g0204 others(2): Show |
5 | HG00621.hp1 HG01884.hp1 HG02056.hp1 others(2): Show |
intron_variant | MODIFIER | c.973+898delA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr17 | 29997243 | ||||||
| chr17:29997256 | A | G | 3 | a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0113 |
3 | HG03139.hp2 NA18906.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.973+896A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | chr17 | 29997256 | |||||||
| chr17:29997314 | T | C | 1 | a0001c0001t0001g0189 | 1 | HG01517.hp1 | intron_variant | MODIFIER | c.973+954T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | chr17 | 29997314 | |||||||
| chr17:29997377 | TAA | T | 3 | a0005c0007t0002g0136 a0005c0007t0002g0137 a0005c0007t0002g0138 |
3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.973+1018_973+1019d others(4): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | chr17 | 29997377 | |||||||
| chr17:29997446 | A | AAT | 11 | a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0148 others(8): Show |
11 | HG01934.hp2 HG02615.hp2 HG02647.hp2 others(8): Show |
intron_variant | MODIFIER | c.973+1102_973+1103d others(4): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr17 | 29997446 | ||||||
| chr17:29997515 | A | G | 1 | a0001c0001t0001g0120 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.973+1155A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | chr17 | 29997515 | |||||||
| chr17:29997539 | A | G | 1 | a0001c0001t0001g0157 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.973+1179A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | chr17 | 29997539 | |||||||
| chr17:29997936 | G | GA | 7 | a0001c0001t0001g0128 a0001c0001t0001g0166 a0001c0001t0001g0220 others(4): Show |
7 | HG01891.hp1 HG02615.hp2 HG02698.hp1 others(4): Show |
intron_variant | MODIFIER | c.973+1590dupA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr17 | 29997936 | ||||||
| chr17:29997936 | GA | G | 10 | a0002c0002t0002g0044 a0003c0003t0002g0129 a0003c0003t0002g0130 others(7): Show |
10 | HG01433.hp1 HG01884.hp1 HG02486.hp1 others(7): Show |
intron_variant | MODIFIER | c.973+1590delA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr17 | 29997936 | ||||||
| chr17:29997950 | A | C | 1 | a0001c0001t0001g0177 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.973+1590A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | chr17 | 29997950 | |||||||
| chr17:29998361 | G | GT | 3 | a0005c0007t0002g0136 a0005c0007t0002g0137 a0005c0007t0002g0138 |
3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.974-1542dupT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr17 | 29998361 | ||||||
| chr17:29998417 | AATATTCA others(10): Show |
A | 3 | a0009c0011t0002g0020 a0009c0011t0002g0021 a0013c0021t0002g0012 |
3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.974-1487_974-1471d others(19): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr17 | 29998417 | ||||||
| chr17:29999154 | A | G | 3 | a0003c0003t0002g0134 a0009c0011t0002g0020 a0009c0011t0002g0021 |
3 | HG01891.hp1 HG02451.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.974-752A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | chr17 | 29999154 | |||||||
| chr17:29999191 | T | G | 1 | a0003c0003t0002g0215 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.974-715T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | chr17 | 29999191 | |||||||
| chr17:29999194 | G | A | 2 | a0001c0001t0001g0111 a0001c0001t0001g0112 |
2 | HG02257.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.974-712G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | chr17 | 29999194 | |||||||
| chr17:29999198 | T | G | 2 | a0003c0003t0002g0140 a0003c0003t0002g0141 |
2 | HG01516.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.974-708T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | chr17 | 29999198 | |||||||
| chr17:29999244 | G | A | 2 | a0001c0001t0001g0211 a0001c0001t0001g0247 |
2 | HG02630.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.974-662G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | chr17 | 29999244 | |||||||
| chr17:29999261 | T | C | 35 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(32): Show |
35 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(32): Show |
intron_variant | MODIFIER | c.974-645T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | chr17 | 29999261 | |||||||
| chr17:29999308 | G | GTA | 10 | a0003c0003t0002g0132 a0003c0003t0002g0133 a0003c0003t0002g0134 others(7): Show |
10 | HG00741.hp1 HG01243.hp2 HG01516.hp1 others(7): Show |
intron_variant | MODIFIER | c.974-587_974-586dup others(2): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr17 | 29999308 | ||||||
| chr17:29999328 | A | G | 3 | a0001c0001t0001g0227 a0001c0001t0001g0243 a0001c0001t0001g0246 |
3 | NA18963.hp1 NA19006.hp2 NA19080.hp1 |
intron_variant | MODIFIER | c.974-578A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | chr17 | 29999328 | |||||||
| chr17:29999636 | A | T | 1 | a0001c0001t0001g0198 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.974-270A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | chr17 | 29999636 | |||||||
| chr17:29999791 | A | G | 3 | a0003c0003t0002g0134 a0009c0011t0002g0020 a0009c0011t0002g0021 |
3 | HG01891.hp1 HG02451.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.974-115A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | chr17 | 29999791 | |||||||
| chr17:29999840 | T | C | 1 | a0003c0003t0002g0134 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.974-66T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 6/22 | chr17 | 29999840 | |||||||
| chr17:30000027 | A | G | 2 | a0005c0007t0002g0136 a0005c0007t0002g0137 |
2 | HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.1044+51A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30000027 | |||||||
| chr17:30000360 | G | A | 1 | a0002c0002t0002g0084 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.1044+384G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30000360 | |||||||
| chr17:30000564 | A | G | 49 | a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0162 others(46): Show |
49 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(46): Show |
intron_variant | MODIFIER | c.1044+588A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30000564 | |||||||
| chr17:30000620 | A | C | 1 | a0001c0001t0001g0223 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.1044+644A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30000620 | |||||||
| chr17:30000649 | A | T | 1 | a0005c0007t0002g0138 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1044+673A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30000649 | |||||||
| chr17:30000776 | G | A | 2 | a0001c0001t0001g0166 a0001c0001t0001g0208 |
2 | NA18940.hp2 NA19001.hp2 |
intron_variant | MODIFIER | c.1044+800G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30000776 | |||||||
| chr17:30000821 | G | C | 38 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(35): Show |
38 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(35): Show |
intron_variant | MODIFIER | c.1044+845G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30000821 | |||||||
| chr17:30000867 | C | T | 49 | a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0162 others(46): Show |
49 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(46): Show |
intron_variant | MODIFIER | c.1044+891C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30000867 | |||||||
| chr17:30001030 | C | G | 1 | a0001c0001t0001g0244 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.1044+1054C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30001030 | |||||||
| chr17:30001801 | G | C | 96 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(93): Show |
96 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(93): Show |
intron_variant | MODIFIER | c.1044+1825G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30001801 | |||||||
| chr17:30002618 | A | G | 2 | a0009c0011t0002g0020 a0009c0011t0002g0021 |
2 | HG01891.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.1044+2642A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30002618 | |||||||
| chr17:30002688 | T | G | 1 | a0001c0001t0001g0157 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1044+2712T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30002688 | |||||||
| chr17:30002706 | C | G | 4 | a0002c0020t0002g0019 a0006c0008t0002g0016 a0006c0008t0002g0017 others(1): Show |
4 | HG02615.hp2 HG02723.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.1044+2730C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30002706 | |||||||
| chr17:30003051 | G | A | 1 | a0001c0001t0001g0120 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1044+3075G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30003051 | |||||||
| chr17:30003100 | G | C | 6 | a0003c0006t0002g0003 a0003c0006t0002g0004 a0003c0006t0002g0005 others(3): Show |
6 | HG01891.hp1 HG02451.hp2 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.1044+3124G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30003100 | |||||||
| chr17:30003104 | G | A | 5 | a0001c0001t0001g0147 a0003c0003t0002g0129 a0003c0003t0002g0130 others(2): Show |
5 | HG01433.hp1 HG02486.hp1 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.1044+3128G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30003104 | |||||||
| chr17:30003105 | G | T | 10 | a0003c0003t0002g0132 a0003c0003t0002g0133 a0003c0003t0002g0134 others(7): Show |
10 | HG00741.hp1 HG01243.hp2 HG01516.hp1 others(7): Show |
intron_variant | MODIFIER | c.1044+3129G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30003105 | |||||||
| chr17:30003107 | G | T | 1 | a0001c0012t0001g0196 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.1044+3131G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30003107 | |||||||
| chr17:30003261 | G | A | 1 | a0002c0002t0002g0043 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.1044+3285G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30003261 | |||||||
| chr17:30003262 | T | G | 160 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(157): Show |
160 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(157): Show |
intron_variant | MODIFIER | c.1044+3286T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30003262 | |||||||
| chr17:30003302 | C | T | 10 | a0003c0003t0002g0132 a0003c0003t0002g0133 a0003c0003t0002g0134 others(7): Show |
10 | HG00741.hp1 HG01243.hp2 HG01516.hp1 others(7): Show |
intron_variant | MODIFIER | c.1044+3326C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30003302 | |||||||
| chr17:30003453 | A | T | 1 | a0001c0001t0001g0117 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.1044+3477A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30003453 | |||||||
| chr17:30003654 | C | A | 34 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(31): Show |
34 | HG01433.hp1 HG01884.hp1 HG01891.hp1 others(31): Show |
intron_variant | MODIFIER | c.1044+3678C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30003654 | |||||||
| chr17:30004096 | C | T | 8 | a0001c0001t0001g0152 a0001c0001t0001g0165 a0001c0001t0001g0184 others(5): Show |
8 | HG00140.hp2 HG00733.hp2 HG01261.hp2 others(5): Show |
intron_variant | MODIFIER | c.1044+4120C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30004096 | |||||||
| chr17:30004129 | G | A | 10 | a0003c0013t0002g0217 a0004c0004t0002g0015 a0004c0004t0002g0097 others(7): Show |
10 | HG02055.hp1 HG02559.hp2 HG02895.hp1 others(7): Show |
intron_variant | MODIFIER | c.1044+4153G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30004129 | |||||||
| chr17:30004139 | G | C | 3 | a0005c0007t0002g0136 a0005c0007t0002g0137 a0005c0007t0002g0138 |
3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.1044+4163G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30004139 | |||||||
| chr17:30004307 | G | A | 1 | a0013c0021t0002g0012 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.1044+4331G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30004307 | |||||||
| chr17:30004408 | C | T | 32 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(29): Show |
32 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(29): Show |
intron_variant | MODIFIER | c.1044+4432C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30004408 | |||||||
| chr17:30004431 | G | A | 2 | a0002c0002t0002g0032 a0002c0002t0002g0033 |
2 | HG01109.hp2 HG01261.hp1 |
intron_variant | MODIFIER | c.1044+4455G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30004431 | |||||||
| chr17:30004448 | T | C | 164 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(161): Show |
164 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(161): Show |
intron_variant | MODIFIER | c.1044+4472T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30004448 | |||||||
| chr17:30004460 | T | A | 1 | a0001c0001t0001g0007 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.1044+4484T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30004460 | |||||||
| chr17:30004787 | A | AT | 121 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(118): Show |
121 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(118): Show |
intron_variant | MODIFIER | c.1044+4832dupT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30004787 | ||||||
| chr17:30004787 | A | ATT | 10 | a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0114 others(7): Show |
10 | HG01346.hp2 HG01884.hp2 HG02148.hp2 others(7): Show |
intron_variant | MODIFIER | c.1044+4831_1044+483 others(6): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30004787 | ||||||
| chr17:30004787 | AT | A | 30 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(27): Show |
30 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(27): Show |
intron_variant | MODIFIER | c.1044+4832delT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30004787 | ||||||
| chr17:30004839 | G | A | 1 | a0002c0002t0002g0048 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.1044+4863G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30004839 | |||||||
| chr17:30004932 | G | A | 2 | a0001c0001t0001g0114 a0001c0001t0001g0117 |
2 | HG01346.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.1044+4956G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30004932 | |||||||
| chr17:30005049 | C | T | 1 | a0002c0002t0002g0054 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.1044+5073C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30005049 | |||||||
| chr17:30005089 | T | C | 164 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(161): Show |
164 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(161): Show |
intron_variant | MODIFIER | c.1044+5113T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30005089 | |||||||
| chr17:30005398 | C | T | 2 | a0002c0002t0002g0076 a0002c0002t0002g0077 |
2 | HG01168.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.1044+5422C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30005398 | |||||||
| chr17:30005463 | A | T | 3 | a0009c0011t0002g0020 a0009c0011t0002g0021 a0013c0021t0002g0012 |
3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.1044+5487A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30005463 | |||||||
| chr17:30005812 | G | A | 1 | a0003c0013t0002g0217 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1044+5836G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30005812 | |||||||
| chr17:30005922 | T | C | 2 | a0001c0001t0001g0153 a0001c0001t0001g0154 |
2 | HG02717.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.1044+5946T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30005922 | |||||||
| chr17:30006272 | G | A | 2 | a0002c0002t0002g0029 a0002c0002t0002g0030 |
2 | HG00741.hp2 HG01346.hp1 |
intron_variant | MODIFIER | c.1044+6296G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30006272 | |||||||
| chr17:30006367 | A | G | 164 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(161): Show |
164 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(161): Show |
intron_variant | MODIFIER | c.1044+6391A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30006367 | |||||||
| chr17:30006485 | T | C | 1 | a0002c0020t0002g0019 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1044+6509T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30006485 | |||||||
| chr17:30006690 | C | T | 1 | a0003c0003t0002g0130 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.1044+6714C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30006690 | |||||||
| chr17:30007223 | G | A | 2 | a0009c0011t0002g0020 a0009c0011t0002g0021 |
2 | HG01891.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.1044+7247G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30007223 | |||||||
| chr17:30007302 | G | C | 2 | a0003c0003t0002g0142 a0003c0003t0002g0145 |
2 | HG03041.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.1044+7326G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30007302 | |||||||
| chr17:30007692 | G | A | 160 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(157): Show |
160 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(157): Show |
intron_variant | MODIFIER | c.1044+7716G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30007692 | |||||||
| chr17:30007756 | G | T | 4 | a0003c0006t0002g0003 a0003c0006t0002g0004 a0003c0006t0002g0005 others(1): Show |
4 | HG02895.hp2 HG03486.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.1044+7780G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30007756 | |||||||
| chr17:30008068 | G | GC | 164 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(161): Show |
164 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(161): Show |
intron_variant | MODIFIER | c.1044+8093dupC | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30008068 | ||||||
| chr17:30008070 | A | C | 164 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(161): Show |
164 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(161): Show |
intron_variant | MODIFIER | c.1044+8094A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30008070 | |||||||
| chr17:30008154 | GGATGAAA others(3): Show |
G | 3 | a0006c0008t0002g0016 a0006c0008t0002g0017 a0006c0008t0002g0018 |
3 | HG02723.hp2 HG03225.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.1044+8187_1044+819 others(14): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30008154 | ||||||
| chr17:30008175 | A | G | 2 | a0001c0001t0001g0168 a0001c0001t0001g0169 |
2 | HG02683.hp1 NA18955.hp1 |
intron_variant | MODIFIER | c.1044+8199A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30008175 | |||||||
| chr17:30008221 | TAAAC | T | 3 | a0005c0007t0002g0136 a0005c0007t0002g0137 a0005c0007t0002g0138 |
3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.1044+8249_1044+825 others(8): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30008221 | ||||||
| chr17:30008499 | G | A | 1 | a0003c0013t0002g0217 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1044+8523G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30008499 | |||||||
| chr17:30008589 | CA | C | 6 | a0001c0001t0001g0152 a0001c0001t0001g0165 a0001c0001t0001g0189 others(3): Show |
6 | HG00140.hp2 HG00733.hp2 HG01169.hp1 others(3): Show |
intron_variant | MODIFIER | c.1044+8625delA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30008589 | ||||||
| chr17:30008601 | A | T | 2 | a0003c0003t0002g0213 a0003c0003t0002g0214 |
2 | HG01884.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.1044+8625A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30008601 | |||||||
| chr17:30008615 | T | C | 3 | a0005c0007t0002g0136 a0005c0007t0002g0137 a0005c0007t0002g0138 |
3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.1044+8639T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30008615 | |||||||
| chr17:30008731 | C | G | 38 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(35): Show |
38 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(35): Show |
intron_variant | MODIFIER | c.1044+8755C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30008731 | |||||||
| chr17:30008763 | A | T | 1 | a0001c0001t0001g0120 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1044+8787A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30008763 | |||||||
| chr17:30008765 | T | A | 1 | a0001c0001t0001g0155 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.1044+8789T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30008765 | |||||||
| chr17:30008931 | T | G | 164 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(161): Show |
164 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(161): Show |
intron_variant | MODIFIER | c.1044+8955T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30008931 | |||||||
| chr17:30009281 | T | C | 6 | a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0146 others(3): Show |
6 | HG01243.hp1 HG01884.hp2 HG02258.hp2 others(3): Show |
intron_variant | MODIFIER | c.1044+9305T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30009281 | |||||||
| chr17:30009411 | CT | C | 122 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(119): Show |
122 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(119): Show |
intron_variant | MODIFIER | c.1044+9436delT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30009411 | |||||||
| chr17:30009414 | G | T | 122 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(119): Show |
122 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(119): Show |
intron_variant | MODIFIER | c.1044+9438G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30009414 | |||||||
| chr17:30009474 | T | C | 3 | a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0119 |
3 | HG02622.hp1 HG02809.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.1044+9498T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30009474 | |||||||
| chr17:30009754 | T | C | 160 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(157): Show |
160 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(157): Show |
intron_variant | MODIFIER | c.1044+9778T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30009754 | |||||||
| chr17:30009844 | G | A | 2 | a0001c0001t0001g0111 a0001c0001t0001g0112 |
2 | HG02257.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.1044+9868G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30009844 | |||||||
| chr17:30010027 | A | G | 1 | a0002c0016t0002g0014 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.1044+10051A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30010027 | |||||||
| chr17:30010101 | C | T | 1 | a0001c0001t0001g0212 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.1044+10125C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30010101 | |||||||
| chr17:30010255 | C | T | 2 | a0001c0001t0001g0111 a0001c0001t0001g0112 |
2 | HG02257.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.1044+10279C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30010255 | |||||||
| chr17:30010256 | G | A | 1 | a0002c0002t0002g0071 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.1044+10280G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30010256 | |||||||
| chr17:30010289 | T | C | 1 | a0001c0001t0001g0199 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.1044+10313T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30010289 | |||||||
| chr17:30010503 | C | T | 2 | a0001c0001t0001g0111 a0001c0001t0001g0112 |
2 | HG02257.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.1044+10527C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30010503 | |||||||
| chr17:30010708 | C | T | 1 | a0003c0014t0002g0006 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.1044+10732C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30010708 | |||||||
| chr17:30010744 | G | A | 1 | a0002c0002t0002g0036 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.1044+10768G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30010744 | |||||||
| chr17:30010888 | T | C | 3 | a0009c0011t0002g0020 a0009c0011t0002g0021 a0013c0021t0002g0012 |
3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.1044+10912T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30010888 | |||||||
| chr17:30010891 | C | A | 28 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(25): Show |
28 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(25): Show |
intron_variant | MODIFIER | c.1044+10915C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30010891 | |||||||
| chr17:30011231 | G | C | 21 | a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 others(18): Show |
21 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(18): Show |
intron_variant | MODIFIER | c.1044+11255G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30011231 | |||||||
| chr17:30011235 | G | A | 1 | a0001c0001t0001g0190 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.1044+11259G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30011235 | |||||||
| chr17:30011285 | C | T | 1 | a0001c0001t0001g0202 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.1044+11309C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30011285 | |||||||
| chr17:30011286 | A | G | 160 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(157): Show |
160 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(157): Show |
intron_variant | MODIFIER | c.1044+11310A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30011286 | |||||||
| chr17:30011376 | A | G | 3 | a0005c0007t0002g0136 a0005c0007t0002g0137 a0005c0007t0002g0138 |
3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.1044+11400A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30011376 | |||||||
| chr17:30011387 | AC | A | 8 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(5): Show |
8 | HG00408.hp1 HG00621.hp2 HG02056.hp1 others(5): Show |
intron_variant | MODIFIER | c.1044+11413delC | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30011387 | ||||||
| chr17:30011412 | C | T | 4 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(1): Show |
4 | HG01433.hp1 HG02486.hp1 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.1044+11436C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30011412 | |||||||
| chr17:30011497 | G | A | 3 | a0001c0001t0001g0227 a0001c0001t0001g0243 a0001c0001t0001g0246 |
3 | NA18963.hp1 NA19006.hp2 NA19080.hp1 |
intron_variant | MODIFIER | c.1044+11521G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30011497 | |||||||
| chr17:30011561 | G | A | 1 | a0003c0003t0002g0131 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.1044+11585G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30011561 | |||||||
| chr17:30011613 | T | C | 3 | a0009c0011t0002g0020 a0009c0011t0002g0021 a0013c0021t0002g0012 |
3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.1044+11637T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30011613 | |||||||
| chr17:30011633 | T | C | 2 | a0004c0004t0002g0015 a0004c0004t0002g0101 |
2 | HG02055.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.1044+11657T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30011633 | |||||||
| chr17:30011975 | T | C | 1 | a0003c0003t0002g0215 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1044+11999T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30011975 | |||||||
| chr17:30012216 | G | C | 28 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(25): Show |
28 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(25): Show |
intron_variant | MODIFIER | c.1044+12240G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30012216 | |||||||
| chr17:30012247 | A | T | 3 | a0009c0011t0002g0020 a0009c0011t0002g0021 a0013c0021t0002g0012 |
3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.1044+12271A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30012247 | |||||||
| chr17:30012287 | C | T | 3 | a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0113 |
3 | HG03139.hp2 NA18906.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.1044+12311C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30012287 | |||||||
| chr17:30012293 | C | T | 2 | a0009c0011t0002g0020 a0009c0011t0002g0021 |
2 | HG01891.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.1044+12317C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30012293 | |||||||
| chr17:30012512 | C | T | 10 | a0003c0013t0002g0217 a0004c0004t0002g0015 a0004c0004t0002g0097 others(7): Show |
10 | HG02055.hp1 HG02559.hp2 HG02895.hp1 others(7): Show |
intron_variant | MODIFIER | c.1044+12536C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30012512 | |||||||
| chr17:30012649 | C | T | 2 | a0001c0001t0001g0120 a0002c0002t0002g0022 |
2 | HG01993.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1044+12673C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30012649 | |||||||
| chr17:30012672 | G | A | 2 | a0001c0001t0001g0109 a0001c0001t0001g0115 |
2 | HG02647.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.1044+12696G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30012672 | |||||||
| chr17:30012730 | C | T | 2 | a0001c0001t0001g0211 a0001c0001t0001g0247 |
2 | HG02630.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.1044+12754C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30012730 | |||||||
| chr17:30012866 | A | T | 2 | a0001c0001t0001g0160 a0001c0001t0001g0207 |
2 | HG03139.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.1044+12890A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30012866 | |||||||
| chr17:30012886 | T | A | 1 | a0013c0021t0002g0012 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.1044+12910T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30012886 | |||||||
| chr17:30013230 | T | C | 38 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(35): Show |
38 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(35): Show |
intron_variant | MODIFIER | c.1044+13254T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30013230 | |||||||
| chr17:30013357 | G | T | 4 | a0003c0003t0002g0132 a0003c0003t0002g0133 a0003c0003t0002g0134 others(1): Show |
4 | HG02572.hp2 HG03098.hp2 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.1044+13381G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30013357 | |||||||
| chr17:30013599 | T | C | 8 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(5): Show |
8 | HG00408.hp1 HG00621.hp2 HG02056.hp1 others(5): Show |
intron_variant | MODIFIER | c.1044+13623T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30013599 | |||||||
| chr17:30013691 | C | A | 1 | a0001c0001t0001g0192 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1044+13715C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30013691 | |||||||
| chr17:30014067 | C | A | 164 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(161): Show |
164 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(161): Show |
intron_variant | MODIFIER | c.1044+14091C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30014067 | |||||||
| chr17:30014099 | G | A | 9 | a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0119 others(6): Show |
9 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(6): Show |
intron_variant | MODIFIER | c.1044+14123G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30014099 | |||||||
| chr17:30014289 | G | A | 1 | a0001c0001t0001g0171 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.1044+14313G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30014289 | |||||||
| chr17:30014511 | T | C | 9 | a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0119 others(6): Show |
9 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(6): Show |
intron_variant | MODIFIER | c.1044+14535T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30014511 | |||||||
| chr17:30014537 | C | T | 1 | a0004c0004t0002g0015 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.1044+14561C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30014537 | |||||||
| chr17:30014566 | G | T | 12 | a0001c0001t0001g0147 a0001c0001t0001g0166 a0001c0001t0001g0171 others(9): Show |
12 | HG00140.hp1 HG00609.hp2 HG00639.hp2 others(9): Show |
intron_variant | MODIFIER | c.1044+14590G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30014566 | |||||||
| chr17:30014661 | T | G | 96 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(93): Show |
96 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(93): Show |
intron_variant | MODIFIER | c.1044+14685T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30014661 | |||||||
| chr17:30014724 | A | T | 10 | a0003c0013t0002g0217 a0004c0004t0002g0015 a0004c0004t0002g0097 others(7): Show |
10 | HG02055.hp1 HG02559.hp2 HG02895.hp1 others(7): Show |
intron_variant | MODIFIER | c.1044+14748A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30014724 | |||||||
| chr17:30014791 | C | T | 1 | a0002c0020t0002g0019 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1044+14815C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30014791 | |||||||
| chr17:30014811 | A | G | 3 | a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0113 |
3 | HG03139.hp2 NA18906.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.1044+14835A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30014811 | |||||||
| chr17:30014937 | T | C | 159 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(156): Show |
159 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(156): Show |
intron_variant | MODIFIER | c.1044+14961T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30014937 | |||||||
| chr17:30015204 | C | T | 3 | a0006c0008t0002g0016 a0006c0008t0002g0017 a0006c0008t0002g0018 |
3 | HG02723.hp2 HG03225.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.1044+15228C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30015204 | |||||||
| chr17:30015759 | C | CT | 9 | a0003c0003t0002g0140 a0003c0003t0002g0141 a0003c0003t0002g0143 others(6): Show |
9 | HG00741.hp1 HG01243.hp2 HG01516.hp1 others(6): Show |
intron_variant | MODIFIER | c.1044+15800dupT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30015759 | ||||||
| chr17:30015759 | CT | C | 105 | a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 others(102): Show |
105 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(102): Show |
intron_variant | MODIFIER | c.1044+15800delT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30015759 | ||||||
| chr17:30015759 | CTT | C | 25 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(22): Show |
25 | HG00408.hp1 HG00621.hp2 HG01069.hp2 others(22): Show |
intron_variant | MODIFIER | c.1044+15799_1044+15 others(8): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30015759 | ||||||
| chr17:30015879 | A | G | 3 | a0005c0007t0002g0136 a0005c0007t0002g0137 a0005c0007t0002g0138 |
3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.1044+15903A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30015879 | |||||||
| chr17:30015882 | G | A | 1 | a0001c0001t0001g0218 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.1044+15906G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30015882 | |||||||
| chr17:30016066 | A | G | 2 | a0009c0011t0002g0020 a0009c0011t0002g0021 |
2 | HG01891.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.1044+16090A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30016066 | |||||||
| chr17:30016145 | G | A | 1 | a0003c0014t0002g0006 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.1044+16169G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30016145 | |||||||
| chr17:30016874 | A | C | 9 | a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0119 others(6): Show |
9 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(6): Show |
intron_variant | MODIFIER | c.1044+16898A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30016874 | |||||||
| chr17:30016981 | C | G | 10 | a0003c0013t0002g0217 a0004c0004t0002g0015 a0004c0004t0002g0097 others(7): Show |
10 | HG02055.hp1 HG02559.hp2 HG02895.hp1 others(7): Show |
intron_variant | MODIFIER | c.1044+17005C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30016981 | |||||||
| chr17:30016995 | T | C | 1 | a0002c0002t0002g0046 | 1 | NA19007.hp2 | intron_variant | MODIFIER | c.1044+17019T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30016995 | |||||||
| chr17:30017170 | G | A | 1 | a0001c0001t0001g0190 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.1045-17060G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30017170 | |||||||
| chr17:30017211 | C | A | 1 | a0001c0001t0001g0120 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1045-17019C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30017211 | |||||||
| chr17:30017243 | A | T | 1 | a0001c0001t0001g0178 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.1045-16987A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30017243 | |||||||
| chr17:30017258 | G | A | 160 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(157): Show |
160 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(157): Show |
intron_variant | MODIFIER | c.1045-16972G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30017258 | |||||||
| chr17:30017301 | G | A | 4 | a0002c0020t0002g0019 a0006c0008t0002g0016 a0006c0008t0002g0017 others(1): Show |
4 | HG02615.hp2 HG02723.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.1045-16929G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30017301 | |||||||
| chr17:30017431 | TACTACGC others(1): Show |
T | 4 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(1): Show |
4 | HG01433.hp1 HG02486.hp1 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.1045-16793_1045-16 others(14): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30017431 | ||||||
| chr17:30017446 | G | A | 1 | a0002c0002t0002g0054 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.1045-16784G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30017446 | |||||||
| chr17:30017694 | T | C | 38 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(35): Show |
38 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(35): Show |
intron_variant | MODIFIER | c.1045-16536T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30017694 | |||||||
| chr17:30018269 | T | A | 1 | a0001c0001t0001g0169 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.1045-15961T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30018269 | |||||||
| chr17:30018835 | T | A | 2 | a0001c0001t0001g0109 a0001c0001t0001g0115 |
2 | HG02647.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.1045-15395T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30018835 | |||||||
| chr17:30019111 | G | A | 3 | a0004c0004t0002g0097 a0004c0004t0002g0098 a0004c0004t0002g0099 |
3 | HG02895.hp1 HG02896.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1045-15119G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30019111 | |||||||
| chr17:30019447 | C | CT | 19 | a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 others(16): Show |
19 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(16): Show |
intron_variant | MODIFIER | c.1045-14768dupT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30019447 | ||||||
| chr17:30019548 | C | T | 1 | a0001c0001t0001g0221 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.1045-14682C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30019548 | |||||||
| chr17:30019683 | T | C | 1 | a0001c0001t0001g0244 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.1045-14547T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30019683 | |||||||
| chr17:30019922 | C | T | 1 | a0001c0001t0001g0178 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.1045-14308C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30019922 | |||||||
| chr17:30019923 | G | A | 1 | a0002c0002t0002g0089 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.1045-14307G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30019923 | |||||||
| chr17:30020036 | T | G | 3 | a0009c0011t0002g0020 a0009c0011t0002g0021 a0013c0021t0002g0012 |
3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.1045-14194T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30020036 | |||||||
| chr17:30020039 | T | C | 1 | a0003c0014t0002g0006 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.1045-14191T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30020039 | |||||||
| chr17:30020270 | G | A | 3 | a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0245 |
3 | NA18964.hp1 NA18993.hp1 NA19054.hp1 |
intron_variant | MODIFIER | c.1045-13960G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30020270 | |||||||
| chr17:30020356 | C | CT | 10 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(7): Show |
10 | HG00408.hp1 HG00621.hp2 HG02056.hp1 others(7): Show |
intron_variant | MODIFIER | c.1045-13861dupT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30020356 | ||||||
| chr17:30020515 | C | T | 1 | a0001c0001t0001g0221 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.1045-13715C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30020515 | |||||||
| chr17:30020606 | C | A | 1 | a0001c0001t0001g0190 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.1045-13624C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30020606 | |||||||
| chr17:30020652 | G | A | 2 | a0001c0001t0001g0185 a0001c0001t0001g0186 |
2 | NA18986.hp2 NA19007.hp1 |
intron_variant | MODIFIER | c.1045-13578G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30020652 | |||||||
| chr17:30020790 | C | T | 1 | a0002c0002t0002g0072 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.1045-13440C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30020790 | |||||||
| chr17:30020942 | G | GTAATAAA others(15): Show |
161 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(158): Show |
161 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(158): Show |
intron_variant | MODIFIER | c.1045-13286_1045-13 others(28): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30020942 | ||||||
| chr17:30020948 | G | T | 1 | a0001c0001t0001g0178 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.1045-13282G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30020948 | |||||||
| chr17:30021026 | T | A | 4 | a0003c0003t0002g0132 a0003c0003t0002g0133 a0003c0003t0002g0134 others(1): Show |
4 | HG02572.hp2 HG03098.hp2 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.1045-13204T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30021026 | |||||||
| chr17:30021136 | A | AT | 10 | a0003c0006t0002g0003 a0003c0006t0002g0004 a0003c0006t0002g0005 others(7): Show |
10 | HG01891.hp1 HG02258.hp1 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.1045-13081dupT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30021136 | ||||||
| chr17:30021136 | A | ATT | 28 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(25): Show |
28 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(25): Show |
intron_variant | MODIFIER | c.1045-13082_1045-13 others(8): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30021136 | ||||||
| chr17:30021426 | TATA | T | 17 | a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 others(14): Show |
17 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(14): Show |
intron_variant | MODIFIER | c.1045-12801_1045-12 others(9): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30021426 | ||||||
| chr17:30021471 | T | C | 1 | a0001c0001t0001g0199 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.1045-12759T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30021471 | |||||||
| chr17:30021715 | T | G | 1 | a0001c0001t0001g0206 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.1045-12515T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30021715 | |||||||
| chr17:30022077 | G | A | 164 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(161): Show |
164 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(161): Show |
intron_variant | MODIFIER | c.1045-12153G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30022077 | |||||||
| chr17:30022369 | A | T | 2 | a0002c0002t0002g0071 a0002c0002t0002g0072 |
2 | HG01256.hp1 HG03834.hp1 |
intron_variant | MODIFIER | c.1045-11861A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30022369 | |||||||
| chr17:30022426 | C | T | 1 | a0011c0025t0001g0181 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.1045-11804C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30022426 | |||||||
| chr17:30022448 | T | C | 164 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(161): Show |
164 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(161): Show |
intron_variant | MODIFIER | c.1045-11782T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30022448 | |||||||
| chr17:30022453 | A | G | 3 | a0009c0011t0002g0020 a0009c0011t0002g0021 a0013c0021t0002g0012 |
3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.1045-11777A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30022453 | |||||||
| chr17:30022458 | G | A | 95 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(92): Show |
95 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(92): Show |
intron_variant | MODIFIER | c.1045-11772G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30022458 | |||||||
| chr17:30022679 | C | T | 4 | a0003c0006t0002g0003 a0003c0006t0002g0004 a0003c0006t0002g0005 others(1): Show |
4 | HG02895.hp2 HG03486.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.1045-11551C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30022679 | |||||||
| chr17:30022874 | A | T | 2 | a0001c0001t0001g0173 a0001c0001t0001g0209 |
2 | HG00609.hp2 NA19004.hp2 |
intron_variant | MODIFIER | c.1045-11356A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30022874 | |||||||
| chr17:30022973 | T | C | 2 | a0003c0003t0002g0213 a0003c0003t0002g0214 |
2 | HG01884.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.1045-11257T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30022973 | |||||||
| chr17:30023032 | T | C | 10 | a0003c0013t0002g0217 a0004c0004t0002g0015 a0004c0004t0002g0097 others(7): Show |
10 | HG02055.hp1 HG02559.hp2 HG02895.hp1 others(7): Show |
intron_variant | MODIFIER | c.1045-11198T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30023032 | |||||||
| chr17:30023215 | C | A | 1 | a0002c0002t0002g0013 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.1045-11015C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30023215 | |||||||
| chr17:30023357 | C | T | 9 | a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0119 others(6): Show |
9 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(6): Show |
intron_variant | MODIFIER | c.1045-10873C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30023357 | |||||||
| chr17:30023451 | G | A | 35 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(32): Show |
35 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(32): Show |
intron_variant | MODIFIER | c.1045-10779G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30023451 | |||||||
| chr17:30023582 | T | A | 164 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(161): Show |
164 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(161): Show |
intron_variant | MODIFIER | c.1045-10648T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30023582 | |||||||
| chr17:30023595 | C | T | 3 | a0005c0007t0002g0136 a0005c0007t0002g0137 a0005c0007t0002g0138 |
3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.1045-10635C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30023595 | |||||||
| chr17:30023777 | C | A | 1 | a0013c0021t0002g0012 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.1045-10453C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30023777 | |||||||
| chr17:30023816 | C | A | 1 | a0003c0003t0002g0216 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1045-10414C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30023816 | |||||||
| chr17:30023857 | G | A | 6 | a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 others(3): Show |
6 | HG01081.hp2 HG01109.hp2 HG01261.hp1 others(3): Show |
intron_variant | MODIFIER | c.1045-10373G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30023857 | |||||||
| chr17:30023880 | T | C | 3 | a0005c0007t0002g0136 a0005c0007t0002g0137 a0005c0007t0002g0138 |
3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.1045-10350T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30023880 | |||||||
| chr17:30023903 | G | A | 1 | a0001c0001t0001g0150 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1045-10327G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30023903 | |||||||
| chr17:30024066 | G | C | 1 | a0002c0002t0002g0080 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1045-10164G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30024066 | |||||||
| chr17:30024190 | G | A | 1 | a0001c0001t0001g0146 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1045-10040G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30024190 | |||||||
| chr17:30024329 | C | T | 2 | a0001c0001t0001g0168 a0013c0021t0002g0012 |
2 | HG02683.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.1045-9901C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30024329 | |||||||
| chr17:30024629 | A | G | 10 | a0003c0013t0002g0217 a0004c0004t0002g0015 a0004c0004t0002g0097 others(7): Show |
10 | HG02055.hp1 HG02559.hp2 HG02895.hp1 others(7): Show |
intron_variant | MODIFIER | c.1045-9601A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30024629 | |||||||
| chr17:30024862 | C | T | 2 | a0005c0007t0002g0136 a0005c0007t0002g0137 |
2 | HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.1045-9368C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30024862 | |||||||
| chr17:30024954 | A | G | 3 | a0001c0001t0001g0227 a0001c0001t0001g0243 a0001c0001t0001g0246 |
3 | NA18963.hp1 NA19006.hp2 NA19080.hp1 |
intron_variant | MODIFIER | c.1045-9276A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30024954 | |||||||
| chr17:30025057 | G | T | 3 | a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 |
3 | HG02523.hp2 HG02683.hp1 NA18955.hp1 |
intron_variant | MODIFIER | c.1045-9173G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30025057 | |||||||
| chr17:30025101 | G | T | 160 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(157): Show |
160 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(157): Show |
intron_variant | MODIFIER | c.1045-9129G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30025101 | |||||||
| chr17:30025244 | G | A | 1 | a0001c0001t0001g0210 | 1 | NA19067.hp2 | intron_variant | MODIFIER | c.1045-8986G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30025244 | |||||||
| chr17:30025337 | A | C | 6 | a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 others(3): Show |
6 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(3): Show |
intron_variant | MODIFIER | c.1045-8893A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30025337 | |||||||
| chr17:30025790 | C | T | 2 | a0003c0003t0002g0140 a0003c0003t0002g0141 |
2 | HG01516.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.1045-8440C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30025790 | |||||||
| chr17:30026028 | C | A | 1 | a0002c0020t0002g0019 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1045-8202C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30026028 | |||||||
| chr17:30026033 | G | C | 4 | a0001c0001t0001g0236 a0009c0011t0002g0020 a0009c0011t0002g0021 others(1): Show |
4 | HG01891.hp1 HG01978.hp1 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.1045-8197G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30026033 | |||||||
| chr17:30026178 | AAAAT | A | 3 | a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0180 |
3 | HG03195.hp2 HG03471.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.1045-8029_1045-802 others(8): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30026178 | ||||||
| chr17:30026182 | T | A | 1 | a0002c0002t0002g0045 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.1045-8048T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30026182 | |||||||
| chr17:30026257 | C | T | 2 | a0001c0001t0001g0111 a0001c0001t0001g0112 |
2 | HG02257.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.1045-7973C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30026257 | |||||||
| chr17:30026696 | A | C | 1 | a0002c0017t0002g0035 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1045-7534A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30026696 | |||||||
| chr17:30026953 | C | G | 1 | a0003c0013t0002g0217 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1045-7277C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30026953 | |||||||
| chr17:30026961 | CT | C | 28 | a0002c0002t0002g0029 a0002c0002t0002g0032 a0002c0002t0002g0033 others(25): Show |
28 | HG00741.hp2 HG01070.hp2 HG01081.hp2 others(25): Show |
intron_variant | MODIFIER | c.1045-7226delT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30026961 | ||||||
| chr17:30026961 | CTT | C | 17 | a0002c0002t0002g0001 a0002c0002t0002g0026 a0002c0002t0002g0027 others(14): Show |
18 | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(15): Show |
intron_variant | MODIFIER | c.1045-7227_1045-722 others(6): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30026961 | ||||||
| chr17:30026961 | CTTT | C | 5 | a0001c0001t0001g0113 a0002c0002t0002g0076 a0002c0002t0002g0077 others(2): Show |
5 | HG01168.hp2 HG01169.hp2 HG03490.hp2 others(2): Show |
intron_variant | MODIFIER | c.1045-7228_1045-722 others(7): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30026961 | ||||||
| chr17:30026961 | CTTTTTTT | C | 9 | a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 others(6): Show |
9 | HG01255.hp1 HG02055.hp2 HG02698.hp1 others(6): Show |
intron_variant | MODIFIER | c.1045-7232_1045-722 others(11): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30026961 | ||||||
| chr17:30026961 | CTTTTTTT others(1): Show |
C | 11 | a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0115 others(8): Show |
11 | HG01069.hp2 HG01071.hp2 HG01081.hp1 others(8): Show |
intron_variant | MODIFIER | c.1045-7233_1045-722 others(12): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30026961 | ||||||
| chr17:30026961 | CTTTTTTT others(2): Show |
C | 30 | a0001c0001t0001g0122 a0001c0001t0001g0146 a0001c0001t0001g0147 others(27): Show |
30 | HG00280.hp2 HG01099.hp2 HG01123.hp1 others(27): Show |
intron_variant | MODIFIER | c.1045-7234_1045-722 others(13): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30026961 | ||||||
| chr17:30026961 | CTTTTTTT others(3): Show |
C | 51 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(48): Show |
51 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(48): Show |
intron_variant | MODIFIER | c.1045-7235_1045-722 others(14): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30026961 | ||||||
| chr17:30026961 | CTTTTTTT others(4): Show |
C | 8 | a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0175 others(5): Show |
8 | HG00323.hp2 HG01934.hp2 HG02258.hp2 others(5): Show |
intron_variant | MODIFIER | c.1045-7236_1045-722 others(15): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30026961 | ||||||
| chr17:30026961 | CTTTTTTT others(5): Show |
C | 6 | a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 others(3): Show |
6 | HG01884.hp2 HG01891.hp1 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.1045-7237_1045-722 others(16): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30026961 | ||||||
| chr17:30026961 | CTTTTTTT others(6): Show |
C | 1 | a0013c0021t0002g0012 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.1045-7238_1045-722 others(17): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30026961 | ||||||
| chr17:30026961 | CTTTTTTT others(7): Show |
C | 1 | a0001c0001t0001g0109 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1045-7239_1045-722 others(18): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30026961 | ||||||
| chr17:30026961 | CTTTTTTT others(9): Show |
C | 1 | a0003c0003t0002g0133 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.1045-7241_1045-722 others(20): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30026961 | ||||||
| chr17:30026961 | CTTTTTTT others(10): Show |
C | 7 | a0002c0002t0002g0061 a0003c0003t0002g0132 a0003c0003t0002g0134 others(4): Show |
7 | HG01243.hp2 HG02055.hp1 HG03098.hp2 others(4): Show |
intron_variant | MODIFIER | c.1045-7242_1045-722 others(21): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30026961 | ||||||
| chr17:30026961 | CTTTTTTT others(11): Show |
C | 15 | a0002c0002t0002g0036 a0003c0003t0002g0140 a0003c0003t0002g0141 others(12): Show |
15 | HG00741.hp1 HG01516.hp1 HG01517.hp2 others(12): Show |
intron_variant | MODIFIER | c.1045-7243_1045-722 others(22): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30026961 | ||||||
| chr17:30026961 | CTTTTTTT others(12): Show |
C | 13 | a0002c0002t0002g0013 a0003c0003t0002g0129 a0003c0003t0002g0130 others(10): Show |
13 | HG01433.hp1 HG01884.hp1 HG02486.hp1 others(10): Show |
intron_variant | MODIFIER | c.1045-7244_1045-722 others(23): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30026961 | ||||||
| chr17:30026961 | CTTTTTTT others(14): Show |
C | 1 | a0001c0001t0001g0220 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.1045-7246_1045-722 others(25): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30026961 | ||||||
| chr17:30026961 | CTTTTTTT others(15): Show |
C | 1 | a0001c0001t0001g0218 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.1045-7247_1045-722 others(26): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30026961 | ||||||
| chr17:30026961 | CTTTTTTT others(17): Show |
C | 3 | a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0024 |
3 | HG00323.hp1 HG01993.hp1 HG02630.hp1 |
intron_variant | MODIFIER | c.1045-7249_1045-722 others(28): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30026961 | ||||||
| chr17:30026974 | T | C | 1 | a0001c0001t0001g0200 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.1045-7256T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30026974 | |||||||
| chr17:30027017 | C | T | 1 | a0002c0005t0002g0025 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.1045-7213C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30027017 | |||||||
| chr17:30027025 | C | T | 1 | a0006c0008t0002g0018 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1045-7205C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30027025 | |||||||
| chr17:30027026 | G | A | 3 | a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0113 |
3 | HG03139.hp2 NA18906.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.1045-7204G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30027026 | |||||||
| chr17:30027236 | C | T | 10 | a0003c0003t0002g0132 a0003c0003t0002g0133 a0003c0003t0002g0134 others(7): Show |
10 | HG00741.hp1 HG01243.hp2 HG01516.hp1 others(7): Show |
intron_variant | MODIFIER | c.1045-6994C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30027236 | |||||||
| chr17:30027257 | T | G | 2 | a0001c0001t0001g0175 a0001c0001t0001g0180 |
2 | HG03195.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.1045-6973T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30027257 | |||||||
| chr17:30027267 | G | T | 1 | a0001c0001t0001g0218 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.1045-6963G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30027267 | |||||||
| chr17:30027275 | A | G | 1 | a0002c0002t0002g0046 | 1 | NA19007.hp2 | intron_variant | MODIFIER | c.1045-6955A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30027275 | |||||||
| chr17:30027293 | C | CT | 25 | a0001c0001t0001g0112 a0001c0001t0001g0164 a0001c0001t0001g0195 others(22): Show |
26 | HG00639.hp1 HG00733.hp1 HG00741.hp1 others(23): Show |
intron_variant | MODIFIER | c.1045-6911dupT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30027293 | ||||||
| chr17:30027293 | CT | C | 10 | a0001c0001t0001g0115 a0001c0001t0001g0146 a0001c0001t0001g0171 others(7): Show |
10 | HG00099.hp1 HG00280.hp1 HG01255.hp2 others(7): Show |
intron_variant | MODIFIER | c.1045-6911delT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30027293 | ||||||
| chr17:30027295 | T | C | 1 | a0002c0002t0002g0084 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.1045-6935T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30027295 | |||||||
| chr17:30027368 | G | A | 1 | a0001c0001t0001g0180 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.1045-6862G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30027368 | |||||||
| chr17:30027505 | T | A | 1 | a0013c0021t0002g0012 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.1045-6725T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30027505 | |||||||
| chr17:30028052 | C | T | 1 | a0004c0004t0002g0015 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.1045-6178C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30028052 | |||||||
| chr17:30028069 | C | T | 1 | a0005c0007t0002g0138 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1045-6161C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30028069 | |||||||
| chr17:30028300 | C | G | 3 | a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 |
3 | HG02523.hp2 HG02683.hp1 NA18955.hp1 |
intron_variant | MODIFIER | c.1045-5930C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30028300 | |||||||
| chr17:30028430 | C | T | 1 | a0003c0003t0002g0216 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1045-5800C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30028430 | |||||||
| chr17:30028504 | G | A | 1 | a0010c0023t0001g0172 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.1045-5726G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30028504 | |||||||
| chr17:30028879 | A | G | 1 | a0001c0001t0001g0184 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.1045-5351A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30028879 | |||||||
| chr17:30029118 | C | T | 122 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(119): Show |
122 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(119): Show |
intron_variant | MODIFIER | c.1045-5112C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30029118 | |||||||
| chr17:30029201 | C | T | 3 | a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0113 |
3 | HG03139.hp2 NA18906.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.1045-5029C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30029201 | |||||||
| chr17:30029477 | C | T | 4 | a0002c0020t0002g0019 a0006c0008t0002g0016 a0006c0008t0002g0017 others(1): Show |
4 | HG02615.hp2 HG02723.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.1045-4753C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30029477 | |||||||
| chr17:30029561 | CT | C | 5 | a0001c0001t0001g0185 a0001c0001t0001g0197 a0002c0002t0002g0013 others(2): Show |
5 | HG02132.hp2 HG02559.hp2 NA18955.hp2 others(2): Show |
intron_variant | MODIFIER | c.1045-4654delT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30029561 | ||||||
| chr17:30029726 | C | A | 122 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(119): Show |
122 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(119): Show |
intron_variant | MODIFIER | c.1045-4504C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30029726 | |||||||
| chr17:30029780 | C | A | 1 | a0003c0014t0002g0006 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.1045-4450C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30029780 | |||||||
| chr17:30029786 | A | G | 4 | a0002c0020t0002g0019 a0006c0008t0002g0016 a0006c0008t0002g0017 others(1): Show |
4 | HG02615.hp2 HG02723.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.1045-4444A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30029786 | |||||||
| chr17:30030029 | G | A | 164 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(161): Show |
164 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(161): Show |
intron_variant | MODIFIER | c.1045-4201G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30030029 | |||||||
| chr17:30030062 | T | A | 164 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(161): Show |
164 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(161): Show |
intron_variant | MODIFIER | c.1045-4168T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30030062 | |||||||
| chr17:30030179 | C | T | 1 | a0002c0002t0002g0042 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.1045-4051C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30030179 | |||||||
| chr17:30030293 | T | C | 2 | a0001c0001t0001g0218 a0001c0001t0001g0220 |
2 | HG00642.hp1 HG03927.hp1 |
intron_variant | MODIFIER | c.1045-3937T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30030293 | |||||||
| chr17:30030332 | G | GGTTT | 4 | a0001c0001t0001g0150 a0001c0001t0001g0160 a0001c0001t0001g0207 others(1): Show |
4 | HG02723.hp1 HG03139.hp1 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.1045-3877_1045-387 others(8): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | 30030332 | ||||||
| chr17:30030363 | G | A | 1 | a0003c0003t0002g0215 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1045-3867G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30030363 | |||||||
| chr17:30030622 | G | A | 3 | a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 |
3 | HG02523.hp2 HG02683.hp1 NA18955.hp1 |
intron_variant | MODIFIER | c.1045-3608G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30030622 | |||||||
| chr17:30030651 | G | T | 1 | a0003c0003t0002g0130 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.1045-3579G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30030651 | |||||||
| chr17:30030950 | C | A | 3 | a0009c0011t0002g0020 a0009c0011t0002g0021 a0013c0021t0002g0012 |
3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.1045-3280C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30030950 | |||||||
| chr17:30031118 | C | A | 4 | a0004c0004t0002g0097 a0004c0004t0002g0098 a0004c0004t0002g0099 others(1): Show |
4 | HG02895.hp1 HG02896.hp1 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.1045-3112C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30031118 | |||||||
| chr17:30031316 | C | T | 1 | a0001c0026t0004g0159 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1045-2914C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30031316 | |||||||
| chr17:30031762 | CTGTAATT others(5): Show |
C | 9 | a0001c0001t0001g0010 a0001c0001t0001g0147 a0001c0001t0001g0166 others(6): Show |
9 | HG00609.hp2 HG02074.hp2 HG03834.hp2 others(6): Show |
intron_variant | MODIFIER | c.1045-2467_1045-245 others(16): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30031762 | |||||||
| chr17:30032001 | C | T | 3 | a0001c0001t0001g0227 a0001c0001t0001g0243 a0001c0001t0001g0246 |
3 | NA18963.hp1 NA19006.hp2 NA19080.hp1 |
intron_variant | MODIFIER | c.1045-2229C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30032001 | |||||||
| chr17:30032303 | T | C | 3 | a0005c0007t0002g0136 a0005c0007t0002g0137 a0005c0007t0002g0138 |
3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.1045-1927T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30032303 | |||||||
| chr17:30032487 | T | C | 1 | a0002c0002t0002g0105 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.1045-1743T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30032487 | |||||||
| chr17:30032493 | G | A | 160 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(157): Show |
160 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(157): Show |
intron_variant | MODIFIER | c.1045-1737G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30032493 | |||||||
| chr17:30032590 | T | C | 1 | a0003c0003t0002g0139 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.1045-1640T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30032590 | |||||||
| chr17:30032701 | C | T | 2 | a0002c0002t0002g0036 a0002c0002t0002g0037 |
2 | HG02647.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.1045-1529C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30032701 | |||||||
| chr17:30032731 | C | T | 3 | a0009c0011t0002g0020 a0009c0011t0002g0021 a0013c0021t0002g0012 |
3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.1045-1499C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30032731 | |||||||
| chr17:30032798 | A | G | 1 | a0001c0001t0001g0195 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.1045-1432A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30032798 | |||||||
| chr17:30033058 | C | T | 3 | a0009c0011t0002g0020 a0009c0011t0002g0021 a0013c0021t0002g0012 |
3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.1045-1172C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30033058 | |||||||
| chr17:30033330 | G | A | 1 | a0001c0001t0001g0120 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1045-900G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30033330 | |||||||
| chr17:30033786 | C | T | 1 | a0003c0003t0002g0215 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1045-444C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30033786 | |||||||
| chr17:30033884 | A | G | 3 | a0009c0011t0002g0020 a0009c0011t0002g0021 a0013c0021t0002g0012 |
3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.1045-346A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | chr17 | 30033884 | |||||||
| chr17:30034568 | G | A | 1 | a0002c0002t0002g0084 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.1200+183G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30034568 | |||||||
| chr17:30034651 | A | C | 164 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(161): Show |
164 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(161): Show |
intron_variant | MODIFIER | c.1200+266A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30034651 | |||||||
| chr17:30034904 | T | C | 1 | a0003c0013t0002g0217 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1200+519T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30034904 | |||||||
| chr17:30034951 | C | G | 164 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(161): Show |
164 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(161): Show |
intron_variant | MODIFIER | c.1200+566C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30034951 | |||||||
| chr17:30035465 | C | T | 10 | a0003c0003t0002g0132 a0003c0003t0002g0133 a0003c0003t0002g0134 others(7): Show |
10 | HG00741.hp1 HG01243.hp2 HG01516.hp1 others(7): Show |
intron_variant | MODIFIER | c.1200+1080C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30035465 | |||||||
| chr17:30036029 | T | C | 1 | a0001c0001t0001g0010 | 1 | NA19001.hp1 | intron_variant | MODIFIER | c.1200+1644T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30036029 | |||||||
| chr17:30036042 | GTATATAT others(22): Show |
G | 6 | a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 others(3): Show |
6 | HG01978.hp1 HG01993.hp2 HG02004.hp1 others(3): Show |
intron_variant | MODIFIER | c.1200+1689_1200+171 others(33): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr17 | 30036042 | ||||||
| chr17:30036257 | T | TACATATA others(23): Show |
2 | a0003c0003t0002g0129 a0003c0003t0002g0139 |
2 | HG02486.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.1200+1989_1200+201 others(34): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr17 | 30036257 | ||||||
| chr17:30036257 | TACATATA others(23): Show |
T | 193 | a0001c0001t0001g0010 a0001c0001t0001g0107 a0001c0001t0001g0108 others(190): Show |
194 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(191): Show |
intron_variant | MODIFIER | c.1200+1989_1200+201 others(34): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr17 | 30036257 | ||||||
| chr17:30036257 | TACATATA others(53): Show |
T | 35 | a0003c0003t0002g0131 a0003c0003t0002g0132 a0003c0003t0002g0133 others(32): Show |
35 | HG00741.hp1 HG01243.hp2 HG01516.hp1 others(32): Show |
intron_variant | MODIFIER | c.1200+1959_1200+201 others(64): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr17 | 30036257 | ||||||
| chr17:30036410 | T | TAG | 8 | a0002c0020t0002g0019 a0003c0006t0002g0003 a0003c0006t0002g0004 others(5): Show |
8 | HG02615.hp2 HG02723.hp2 HG02895.hp2 others(5): Show |
intron_variant | MODIFIER | c.1200+2044_1200+204 others(6): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr17 | 30036410 | ||||||
| chr17:30036558 | T | C | 2 | a0006c0008t0002g0016 a0006c0008t0002g0017 |
2 | HG02723.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.1200+2173T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30036558 | |||||||
| chr17:30036624 | C | T | 102 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(99): Show |
102 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(99): Show |
intron_variant | MODIFIER | c.1200+2239C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30036624 | |||||||
| chr17:30036986 | C | T | 4 | a0003c0006t0002g0003 a0003c0006t0002g0004 a0003c0006t0002g0005 others(1): Show |
4 | HG02895.hp2 HG03486.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.1200+2601C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30036986 | |||||||
| chr17:30037016 | A | T | 1 | a0001c0001t0001g0212 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.1200+2631A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30037016 | |||||||
| chr17:30037166 | G | A | 3 | a0001c0001t0001g0147 a0001c0001t0001g0173 a0001c0001t0001g0209 |
3 | HG00609.hp2 NA19004.hp2 NA19011.hp1 |
intron_variant | MODIFIER | c.1200+2781G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30037166 | |||||||
| chr17:30037438 | C | T | 123 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(120): Show |
123 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(120): Show |
intron_variant | MODIFIER | c.1200+3053C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30037438 | |||||||
| chr17:30037493 | G | A | 3 | a0001c0001t0001g0227 a0001c0001t0001g0243 a0001c0001t0001g0246 |
3 | NA18963.hp1 NA19006.hp2 NA19080.hp1 |
intron_variant | MODIFIER | c.1200+3108G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30037493 | |||||||
| chr17:30037660 | A | G | 1 | a0002c0002t0002g0072 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.1200+3275A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30037660 | |||||||
| chr17:30037748 | C | T | 1 | a0002c0002t0002g0079 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.1200+3363C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30037748 | |||||||
| chr17:30037750 | T | C | 122 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(119): Show |
122 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(119): Show |
intron_variant | MODIFIER | c.1200+3365T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30037750 | |||||||
| chr17:30038118 | C | T | 4 | a0002c0020t0002g0019 a0006c0008t0002g0016 a0006c0008t0002g0017 others(1): Show |
4 | HG02615.hp2 HG02723.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.1200+3733C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30038118 | |||||||
| chr17:30038348 | C | T | 4 | a0003c0006t0002g0003 a0003c0006t0002g0004 a0003c0006t0002g0005 others(1): Show |
4 | HG02895.hp2 HG03486.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.1200+3963C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30038348 | |||||||
| chr17:30038540 | G | A | 2 | a0002c0002t0002g0051 a0002c0002t0002g0073 |
2 | HG01069.hp1 HG02572.hp1 |
intron_variant | MODIFIER | c.1200+4155G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30038540 | |||||||
| chr17:30038632 | T | C | 10 | a0003c0013t0002g0217 a0004c0004t0002g0015 a0004c0004t0002g0097 others(7): Show |
10 | HG02055.hp1 HG02559.hp2 HG02895.hp1 others(7): Show |
intron_variant | MODIFIER | c.1200+4247T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30038632 | |||||||
| chr17:30038921 | G | A | 3 | a0009c0011t0002g0020 a0009c0011t0002g0021 a0013c0021t0002g0012 |
3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.1200+4536G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30038921 | |||||||
| chr17:30039114 | C | T | 1 | a0002c0002t0002g0079 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.1200+4729C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30039114 | |||||||
| chr17:30039122 | T | C | 1 | a0001c0001t0001g0203 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.1200+4737T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30039122 | |||||||
| chr17:30039358 | A | G | 4 | a0003c0006t0002g0003 a0003c0006t0002g0004 a0003c0006t0002g0005 others(1): Show |
4 | HG02895.hp2 HG03486.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.1200+4973A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30039358 | |||||||
| chr17:30039640 | G | A | 2 | a0002c0002t0002g0071 a0002c0002t0002g0072 |
2 | HG01256.hp1 HG03834.hp1 |
intron_variant | MODIFIER | c.1200+5255G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30039640 | |||||||
| chr17:30039703 | A | G | 5 | a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0113 others(2): Show |
5 | HG02630.hp2 HG03139.hp2 HG03225.hp2 others(2): Show |
intron_variant | MODIFIER | c.1200+5318A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30039703 | |||||||
| chr17:30039881 | A | G | 2 | a0009c0011t0002g0020 a0009c0011t0002g0021 |
2 | HG01891.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.1200+5496A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30039881 | |||||||
| chr17:30039886 | A | G | 1 | a0001c0001t0001g0157 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1200+5501A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30039886 | |||||||
| chr17:30039919 | T | C | 1 | a0003c0013t0002g0217 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1200+5534T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30039919 | |||||||
| chr17:30040154 | C | T | 1 | a0002c0002t0002g0053 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.1200+5769C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30040154 | |||||||
| chr17:30040276 | T | C | 3 | a0009c0011t0002g0020 a0009c0011t0002g0021 a0013c0021t0002g0012 |
3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.1200+5891T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30040276 | |||||||
| chr17:30040312 | C | T | 3 | a0001c0001t0001g0185 a0001c0001t0001g0186 a0002c0002t0002g0042 |
3 | HG02523.hp1 NA18986.hp2 NA19007.hp1 |
intron_variant | MODIFIER | c.1200+5927C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30040312 | |||||||
| chr17:30040557 | A | G | 1 | a0002c0020t0002g0019 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1200+6172A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30040557 | |||||||
| chr17:30040573 | T | C | 2 | a0002c0002t0002g0048 a0002c0002t0002g0055 |
2 | HG02056.hp2 NA18971.hp2 |
intron_variant | MODIFIER | c.1200+6188T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30040573 | |||||||
| chr17:30041178 | G | A | 122 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(119): Show |
122 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(119): Show |
intron_variant | MODIFIER | c.1200+6793G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30041178 | |||||||
| chr17:30041210 | A | AGAAG | 4 | a0002c0020t0002g0019 a0006c0008t0002g0016 a0006c0008t0002g0017 others(1): Show |
4 | HG02615.hp2 HG02723.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.1200+6845_1200+684 others(8): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr17 | 30041210 | ||||||
| chr17:30041210 | A | AGAAGGAA others(1): Show |
23 | a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0115 others(20): Show |
23 | HG01069.hp2 HG01070.hp1 HG01071.hp1 others(20): Show |
intron_variant | MODIFIER | c.1200+6841_1200+684 others(12): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr17 | 30041210 | ||||||
| chr17:30041210 | A | AGAAGGAA others(5): Show |
120 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(117): Show |
120 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(117): Show |
intron_variant | MODIFIER | c.1200+6837_1200+684 others(16): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr17 | 30041210 | ||||||
| chr17:30041210 | A | AGAAGGAA others(9): Show |
9 | a0001c0001t0001g0205 a0001c0012t0001g0196 a0003c0003t0002g0216 others(6): Show |
9 | HG02559.hp2 HG02895.hp1 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.1200+6833_1200+684 others(20): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr17 | 30041210 | ||||||
| chr17:30041210 | A | AGAAGGAA others(13): Show |
3 | a0003c0003t0002g0215 a0005c0007t0002g0136 a0005c0007t0002g0137 |
3 | HG02451.hp1 HG03098.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.1200+6829_1200+684 others(24): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr17 | 30041210 | ||||||
| chr17:30041210 | A | AGAAGGAA others(17): Show |
2 | a0003c0003t0002g0213 a0003c0003t0002g0214 |
2 | HG01884.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.1200+6848_1200+684 others(28): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr17 | 30041210 | ||||||
| chr17:30041210 | A | AGAAGGAA others(21): Show |
3 | a0005c0007t0002g0138 a0009c0011t0002g0020 a0009c0011t0002g0021 |
3 | HG01891.hp1 HG02258.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.1200+6848_1200+684 others(32): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr17 | 30041210 | ||||||
| chr17:30041878 | T | G | 1 | a0002c0002t0002g0057 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.1200+7493T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30041878 | |||||||
| chr17:30042004 | T | C | 1 | a0003c0013t0002g0217 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1200+7619T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30042004 | |||||||
| chr17:30042530 | G | T | 122 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(119): Show |
122 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(119): Show |
intron_variant | MODIFIER | c.1200+8145G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30042530 | |||||||
| chr17:30042597 | A | G | 1 | a0001c0001t0001g0146 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1200+8212A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30042597 | |||||||
| chr17:30042607 | G | A | 2 | a0002c0002t0002g0051 a0002c0002t0002g0073 |
2 | HG01069.hp1 HG02572.hp1 |
intron_variant | MODIFIER | c.1200+8222G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30042607 | |||||||
| chr17:30042616 | A | T | 3 | a0003c0006t0002g0003 a0003c0006t0002g0004 a0003c0006t0002g0005 |
3 | HG02895.hp2 NA18906.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.1200+8231A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30042616 | |||||||
| chr17:30043015 | C | T | 1 | a0002c0002t0002g0089 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.1201-8103C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30043015 | |||||||
| chr17:30043024 | A | C | 122 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(119): Show |
122 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(119): Show |
intron_variant | MODIFIER | c.1201-8094A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30043024 | |||||||
| chr17:30043173 | C | T | 160 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(157): Show |
160 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(157): Show |
intron_variant | MODIFIER | c.1201-7945C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30043173 | |||||||
| chr17:30043195 | A | G | 1 | a0003c0003t0002g0130 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.1201-7923A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30043195 | |||||||
| chr17:30043203 | T | A | 1 | a0002c0002t0002g0046 | 1 | NA19007.hp2 | intron_variant | MODIFIER | c.1201-7915T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30043203 | |||||||
| chr17:30043311 | T | G | 4 | a0002c0020t0002g0019 a0006c0008t0002g0016 a0006c0008t0002g0017 others(1): Show |
4 | HG02615.hp2 HG02723.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.1201-7807T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30043311 | |||||||
| chr17:30043733 | A | G | 1 | a0003c0014t0002g0006 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.1201-7385A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30043733 | |||||||
| chr17:30044176 | C | G | 1 | a0001c0001t0001g0201 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.1201-6942C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30044176 | |||||||
| chr17:30044395 | T | G | 3 | a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 |
3 | HG01346.hp2 HG03453.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.1201-6723T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30044395 | |||||||
| chr17:30044432 | G | T | 1 | a0001c0001t0001g0202 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.1201-6686G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30044432 | |||||||
| chr17:30044490 | C | T | 1 | a0003c0003t0002g0135 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1201-6628C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30044490 | |||||||
| chr17:30044501 | G | A | 3 | a0003c0003t0002g0132 a0003c0003t0002g0133 a0003c0003t0002g0134 |
3 | HG02572.hp2 HG03098.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.1201-6617G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30044501 | |||||||
| chr17:30044506 | G | A | 1 | a0001c0001t0001g0120 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1201-6612G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30044506 | |||||||
| chr17:30044570 | G | A | 3 | a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 |
3 | HG00099.hp1 HG01123.hp1 HG01496.hp1 |
intron_variant | MODIFIER | c.1201-6548G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30044570 | |||||||
| chr17:30044596 | T | C | 1 | a0011c0025t0001g0181 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.1201-6522T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30044596 | |||||||
| chr17:30044864 | C | T | 3 | a0009c0011t0002g0020 a0009c0011t0002g0021 a0013c0021t0002g0012 |
3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.1201-6254C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30044864 | |||||||
| chr17:30045052 | G | C | 9 | a0004c0004t0002g0015 a0004c0004t0002g0097 a0004c0004t0002g0098 others(6): Show |
9 | HG02055.hp1 HG02895.hp1 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.1201-6066G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30045052 | |||||||
| chr17:30045112 | A | G | 122 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(119): Show |
122 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(119): Show |
intron_variant | MODIFIER | c.1201-6006A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30045112 | |||||||
| chr17:30045180 | G | A | 3 | a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0119 |
3 | HG02622.hp1 HG02809.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.1201-5938G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30045180 | |||||||
| chr17:30045299 | A | G | 1 | a0001c0001t0001g0182 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.1201-5819A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30045299 | |||||||
| chr17:30045308 | A | G | 1 | a0002c0002t0002g0057 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.1201-5810A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30045308 | |||||||
| chr17:30045437 | G | A | 3 | a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 |
3 | HG00408.hp2 HG01256.hp1 HG03834.hp1 |
intron_variant | MODIFIER | c.1201-5681G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30045437 | |||||||
| chr17:30045458 | CA | C | 127 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(124): Show |
127 | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(124): Show |
intron_variant | MODIFIER | c.1201-5641delA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr17 | 30045458 | ||||||
| chr17:30045554 | A | G | 12 | a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0024 others(9): Show |
12 | HG00323.hp1 HG01069.hp1 HG01081.hp2 others(9): Show |
intron_variant | MODIFIER | c.1201-5564A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30045554 | |||||||
| chr17:30045765 | A | T | 160 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(157): Show |
160 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(157): Show |
intron_variant | MODIFIER | c.1201-5353A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30045765 | |||||||
| chr17:30045952 | G | C | 3 | a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0113 |
3 | HG03139.hp2 NA18906.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.1201-5166G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30045952 | |||||||
| chr17:30047094 | A | G | 122 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(119): Show |
122 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(119): Show |
intron_variant | MODIFIER | c.1201-4024A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30047094 | |||||||
| chr17:30047095 | A | G | 9 | a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0119 others(6): Show |
9 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(6): Show |
intron_variant | MODIFIER | c.1201-4023A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30047095 | |||||||
| chr17:30047152 | T | G | 1 | a0001c0001t0001g0153 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.1201-3966T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30047152 | |||||||
| chr17:30047277 | T | G | 2 | a0001c0001t0001g0111 a0001c0001t0001g0112 |
2 | HG02257.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.1201-3841T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30047277 | |||||||
| chr17:30047296 | G | A | 1 | a0003c0003t0002g0215 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1201-3822G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30047296 | |||||||
| chr17:30047788 | A | G | 1 | a0001c0001t0001g0199 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.1201-3330A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30047788 | |||||||
| chr17:30047867 | C | A | 3 | a0005c0007t0002g0136 a0005c0007t0002g0137 a0005c0007t0002g0138 |
3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.1201-3251C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30047867 | |||||||
| chr17:30048277 | T | C | 1 | a0003c0013t0002g0217 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1201-2841T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30048277 | |||||||
| chr17:30048344 | T | TAA | 32 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(29): Show |
32 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(29): Show |
intron_variant | MODIFIER | c.1201-2764_1201-276 others(6): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr17 | 30048344 | ||||||
| chr17:30048352 | A | AT | 3 | a0009c0011t0002g0020 a0009c0011t0002g0021 a0013c0021t0002g0012 |
3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.1201-2766_1201-276 others(5): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30048352 | |||||||
| chr17:30048377 | C | CA | 3 | a0009c0011t0002g0020 a0009c0011t0002g0021 a0013c0021t0002g0012 |
3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.1201-2735dupA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr17 | 30048377 | ||||||
| chr17:30048491 | C | CT | 7 | a0001c0001t0001g0152 a0001c0001t0001g0184 a0001c0001t0001g0209 others(4): Show |
7 | HG00140.hp2 HG01255.hp1 HG02258.hp1 others(4): Show |
intron_variant | MODIFIER | c.1201-2613dupT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr17 | 30048491 | ||||||
| chr17:30048493 | T | C | 1 | a0002c0002t0002g0083 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.1201-2625T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30048493 | |||||||
| chr17:30049119 | C | T | 3 | a0005c0007t0002g0136 a0005c0007t0002g0137 a0005c0007t0002g0138 |
3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.1201-1999C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30049119 | |||||||
| chr17:30049373 | C | T | 1 | a0002c0002t0002g0081 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.1201-1745C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30049373 | |||||||
| chr17:30049374 | G | A | 1 | a0003c0014t0002g0006 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.1201-1744G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30049374 | |||||||
| chr17:30049845 | C | T | 32 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(29): Show |
32 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(29): Show |
intron_variant | MODIFIER | c.1201-1273C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30049845 | |||||||
| chr17:30050259 | C | G | 3 | a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0113 |
3 | HG03139.hp2 NA18906.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.1201-859C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30050259 | |||||||
| chr17:30050284 | A | C | 1 | a0001c0001t0001g0182 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.1201-834A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30050284 | |||||||
| chr17:30050414 | C | T | 1 | a0010c0023t0001g0172 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.1201-704C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30050414 | |||||||
| chr17:30050522 | G | A | 2 | a0001c0001t0001g0240 a0001c0001t0001g0241 |
2 | HG01167.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.1201-596G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30050522 | |||||||
| chr17:30050644 | G | A | 4 | a0002c0020t0002g0019 a0006c0008t0002g0016 a0006c0008t0002g0017 others(1): Show |
4 | HG02615.hp2 HG02723.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.1201-474G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30050644 | |||||||
| chr17:30050811 | T | C | 3 | a0005c0007t0002g0136 a0005c0007t0002g0137 a0005c0007t0002g0138 |
3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.1201-307T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30050811 | |||||||
| chr17:30050963 | A | G | 3 | a0005c0007t0002g0136 a0005c0007t0002g0137 a0005c0007t0002g0138 |
3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.1201-155A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | chr17 | 30050963 | |||||||
| chr17:30051226 | C | T | 1 | a0003c0003t0002g0215 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1300+9C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 9/22 | chr17 | 30051226 | |||||||
| chr17:30051237 | A | C | 3 | a0009c0011t0002g0020 a0009c0011t0002g0021 a0013c0021t0002g0012 |
3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.1300+20A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 9/22 | chr17 | 30051237 | |||||||
| chr17:30051258 | C | T | 122 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(119): Show |
122 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(119): Show |
intron_variant | MODIFIER | c.1300+41C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 9/22 | chr17 | 30051258 | |||||||
| chr17:30051475 | A | T | 8 | a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0234 others(5): Show |
8 | HG01978.hp1 HG01993.hp2 HG02004.hp1 others(5): Show |
intron_variant | MODIFIER | c.1300+258A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 9/22 | chr17 | 30051475 | |||||||
| chr17:30051816 | G | A | 1 | a0002c0002t0002g0043 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.1300+599G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 9/22 | chr17 | 30051816 | |||||||
| chr17:30052228 | G | A | 1 | a0002c0002t0002g0084 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.1300+1011G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 9/22 | chr17 | 30052228 | |||||||
| chr17:30052272 | C | T | 1 | a0003c0003t0002g0131 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.1301-983C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 9/22 | chr17 | 30052272 | |||||||
| chr17:30052494 | G | A | 34 | a0001c0001t0001g0010 a0001c0001t0001g0147 a0001c0001t0001g0148 others(31): Show |
34 | HG00140.hp1 HG00609.hp2 HG00639.hp2 others(31): Show |
intron_variant | MODIFIER | c.1301-761G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 9/22 | chr17 | 30052494 | |||||||
| chr17:30052733 | C | T | 2 | a0001c0001t0001g0153 a0001c0001t0001g0154 |
2 | HG02717.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.1301-522C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 9/22 | chr17 | 30052733 | |||||||
| chr17:30052989 | C | T | 4 | a0001c0001t0001g0148 a0001c0001t0001g0174 a0001c0001t0001g0176 others(1): Show |
4 | HG01891.hp2 HG01934.hp2 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.1301-266C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 9/22 | chr17 | 30052989 | |||||||
| chr17:30053249 | C | T | 1 | a0002c0002t0002g0054 | 1 | NA18955.hp2 | splice_region_variant&intron_variant | LOW | c.1301-6C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 9/22 | chr17 | 30053249 | |||||||
| chr17:30054852 | C | T | 1 | a0001c0001t0001g0109 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.2194+704C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 10/22 | chr17 | 30054852 | |||||||
| chr17:30054942 | T | C | 1 | a0010c0023t0001g0172 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.2194+794T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 10/22 | chr17 | 30054942 | |||||||
| chr17:30054999 | A | G | 9 | a0004c0004t0002g0015 a0004c0004t0002g0097 a0004c0004t0002g0098 others(6): Show |
9 | HG02055.hp1 HG02895.hp1 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.2194+851A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 10/22 | chr17 | 30054999 | |||||||
| chr17:30055068 | C | T | 1 | a0001c0001t0001g0120 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.2195-820C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 10/22 | chr17 | 30055068 | |||||||
| chr17:30055119 | G | A | 1 | a0002c0002t0002g0033 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.2195-769G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 10/22 | chr17 | 30055119 | |||||||
| chr17:30055123 | C | T | 3 | a0002c0002t0002g0053 a0002c0002t0002g0062 a0003c0014t0002g0006 |
3 | HG00609.hp1 HG03486.hp1 NA18993.hp2 |
intron_variant | MODIFIER | c.2195-765C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 10/22 | chr17 | 30055123 | |||||||
| chr17:30055131 | C | CA | 6 | a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 others(3): Show |
6 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(3): Show |
intron_variant | MODIFIER | c.2195-746dupA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr17 | 30055131 | ||||||
| chr17:30055159 | G | C | 3 | a0003c0006t0002g0003 a0003c0006t0002g0004 a0003c0006t0002g0005 |
3 | HG02895.hp2 NA18906.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.2195-729G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 10/22 | chr17 | 30055159 | |||||||
| chr17:30055322 | G | GAGGA | 33 | a0001c0001t0001g0109 a0001c0001t0001g0124 a0001c0001t0001g0125 others(30): Show |
33 | HG00280.hp1 HG00609.hp1 HG00642.hp2 others(30): Show |
intron_variant | MODIFIER | c.2195-506_2195-503d others(6): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr17 | 30055322 | ||||||
| chr17:30055322 | G | GAGGAAGG others(1): Show |
14 | a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0123 others(11): Show |
14 | HG01346.hp2 HG02055.hp2 HG02280.hp2 others(11): Show |
intron_variant | MODIFIER | c.2195-510_2195-503d others(10): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr17 | 30055322 | ||||||
| chr17:30055322 | G | GAGGAAGG others(5): Show |
3 | a0001c0001t0001g0127 a0003c0006t0002g0003 a0003c0006t0002g0005 |
3 | HG01109.hp1 HG02895.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.2195-514_2195-503d others(14): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr17 | 30055322 | ||||||
| chr17:30055322 | GAGGA | G | 70 | a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0011 others(67): Show |
70 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(67): Show |
intron_variant | MODIFIER | c.2195-506_2195-503d others(6): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr17 | 30055322 | ||||||
| chr17:30055322 | GAGGAAGG others(1): Show |
G | 45 | a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0120 others(42): Show |
45 | HG00140.hp1 HG00408.hp2 HG00609.hp2 others(42): Show |
intron_variant | MODIFIER | c.2195-510_2195-503d others(10): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr17 | 30055322 | ||||||
| chr17:30055322 | GAGGAAGG others(5): Show |
G | 6 | a0001c0001t0001g0224 a0001c0001t0001g0242 a0001c0001t0001g0246 others(3): Show |
6 | HG00741.hp1 HG01070.hp1 HG01071.hp1 others(3): Show |
intron_variant | MODIFIER | c.2195-514_2195-503d others(14): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr17 | 30055322 | ||||||
| chr17:30055322 | GAGGAAGG others(9): Show |
G | 2 | a0003c0003t0002g0139 a0013c0021t0002g0012 |
2 | HG02486.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.2195-518_2195-503d others(18): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr17 | 30055322 | ||||||
| chr17:30055401 | G | C | 1 | a0005c0007t0002g0138 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.2195-487G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 10/22 | chr17 | 30055401 | |||||||
| chr17:30055497 | C | G | 2 | a0009c0011t0002g0020 a0009c0011t0002g0021 |
2 | HG01891.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.2195-391C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 10/22 | chr17 | 30055497 | |||||||
| chr17:30055661 | T | C | 2 | a0004c0004t0002g0015 a0004c0004t0002g0101 |
2 | HG02055.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.2195-227T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 10/22 | chr17 | 30055661 | |||||||
| chr17:30055686 | C | T | 160 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(157): Show |
160 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(157): Show |
intron_variant | MODIFIER | c.2195-202C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 10/22 | chr17 | 30055686 | |||||||
| chr17:30055710 | C | T | 2 | a0009c0011t0002g0020 a0009c0011t0002g0021 |
2 | HG01891.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.2195-178C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 10/22 | chr17 | 30055710 | |||||||
| chr17:30055997 | T | C | 1 | a0001c0001t0001g0178 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.2272+32T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 11/22 | chr17 | 30055997 | |||||||
| chr17:30056005 | A | C | 6 | a0003c0003t0002g0140 a0003c0003t0002g0141 a0003c0003t0002g0142 others(3): Show |
6 | HG00741.hp1 HG01243.hp2 HG01516.hp1 others(3): Show |
intron_variant | MODIFIER | c.2272+40A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 11/22 | chr17 | 30056005 | |||||||
| chr17:30056038 | C | T | 1 | a0003c0006t0002g0003 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.2273-26C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 11/22 | chr17 | 30056038 | |||||||
| chr17:30056298 | G | A | 3 | a0009c0011t0002g0020 a0009c0011t0002g0021 a0013c0021t0002g0012 |
3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.2365+142G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 12/22 | chr17 | 30056298 | |||||||
| chr17:30056691 | A | G | 21 | a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 others(18): Show |
21 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(18): Show |
intron_variant | MODIFIER | c.2365+535A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 12/22 | chr17 | 30056691 | |||||||
| chr17:30056797 | T | G | 1 | a0001c0001t0001g0174 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.2365+641T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 12/22 | chr17 | 30056797 | |||||||
| chr17:30056882 | T | C | 28 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(25): Show |
28 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(25): Show |
intron_variant | MODIFIER | c.2365+726T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 12/22 | chr17 | 30056882 | |||||||
| chr17:30056940 | TA | T | 6 | a0002c0002t0002g0002 a0002c0002t0002g0080 a0002c0002t0002g0081 others(3): Show |
6 | HG00642.hp2 HG01099.hp1 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.2366-734delA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr17 | 30056940 | ||||||
| chr17:30057130 | T | C | 2 | a0003c0003t0002g0213 a0003c0003t0002g0214 |
2 | HG01884.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.2366-546T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 12/22 | chr17 | 30057130 | |||||||
| chr17:30058413 | A | G | 38 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(35): Show |
38 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(35): Show |
intron_variant | MODIFIER | c.2580+523A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 13/22 | chr17 | 30058413 | |||||||
| chr17:30058826 | G | C | 1 | a0001c0001t0001g0220 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.2581-719G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 13/22 | chr17 | 30058826 | |||||||
| chr17:30058986 | G | GA | 22 | a0001c0001t0001g0155 a0001c0001t0001g0204 a0002c0002t0002g0058 others(19): Show |
22 | HG00099.hp2 HG01167.hp2 HG01891.hp1 others(19): Show |
intron_variant | MODIFIER | c.2581-545dupA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr17 | 30058986 | ||||||
| chr17:30058986 | G | GAA | 21 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(18): Show |
21 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(18): Show |
intron_variant | MODIFIER | c.2581-546_2581-545d others(4): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr17 | 30058986 | ||||||
| chr17:30059109 | G | A | 1 | a0003c0003t0002g0139 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.2581-436G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 13/22 | chr17 | 30059109 | |||||||
| chr17:30059117 | G | A | 6 | a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0146 others(3): Show |
6 | HG01243.hp1 HG01884.hp2 HG02258.hp2 others(3): Show |
intron_variant | MODIFIER | c.2581-428G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 13/22 | chr17 | 30059117 | |||||||
| chr17:30059163 | G | GTTTTGT | 4 | a0003c0003t0002g0140 a0003c0003t0002g0141 a0003c0003t0002g0143 others(1): Show |
4 | HG00741.hp1 HG01243.hp2 HG01516.hp1 others(1): Show |
intron_variant | MODIFIER | c.2581-362_2581-357d others(8): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr17 | 30059163 | ||||||
| chr17:30059262 | T | A | 162 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(159): Show |
162 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(159): Show |
intron_variant | MODIFIER | c.2581-283T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 13/22 | chr17 | 30059262 | |||||||
| chr17:30059265 | T | A | 6 | a0001c0001t0001g0227 a0001c0001t0001g0232 a0001c0001t0001g0243 others(3): Show |
6 | HG01891.hp1 HG02451.hp2 NA18961.hp2 others(3): Show |
intron_variant | MODIFIER | c.2581-280T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 13/22 | chr17 | 30059265 | |||||||
| chr17:30059266 | T | A | 160 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(157): Show |
160 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(157): Show |
intron_variant | MODIFIER | c.2581-279T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 13/22 | chr17 | 30059266 | |||||||
| chr17:30059267 | A | T | 1 | a0002c0002t0002g0088 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.2581-278A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 13/22 | chr17 | 30059267 | |||||||
| chr17:30059337 | C | T | 1 | a0002c0002t0002g0013 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.2581-208C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 13/22 | chr17 | 30059337 | |||||||
| chr17:30059508 | A | G | 164 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(161): Show |
164 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(161): Show |
intron_variant | MODIFIER | c.2581-37A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 13/22 | chr17 | 30059508 | |||||||
| chr17:30060146 | G | A | 1 | a0002c0002t0002g0032 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.2737+445G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30060146 | |||||||
| chr17:30060226 | A | T | 6 | a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 others(3): Show |
6 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(3): Show |
intron_variant | MODIFIER | c.2737+525A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30060226 | |||||||
| chr17:30060237 | T | TA | 49 | a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0162 others(46): Show |
49 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(46): Show |
intron_variant | MODIFIER | c.2737+544dupA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr17 | 30060237 | ||||||
| chr17:30060300 | A | T | 1 | a0002c0002t0002g0069 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.2737+599A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30060300 | |||||||
| chr17:30060415 | A | G | 1 | a0003c0003t0002g0216 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.2737+714A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30060415 | |||||||
| chr17:30060448 | T | C | 1 | a0003c0013t0002g0217 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.2737+747T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30060448 | |||||||
| chr17:30060627 | T | C | 9 | a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0119 others(6): Show |
9 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(6): Show |
intron_variant | MODIFIER | c.2737+926T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30060627 | |||||||
| chr17:30060655 | G | C | 1 | a0002c0002t0002g0084 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.2737+954G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30060655 | |||||||
| chr17:30060952 | G | A | 1 | a0002c0019t0002g0039 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.2737+1251G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30060952 | |||||||
| chr17:30061238 | C | A | 3 | a0009c0011t0002g0020 a0009c0011t0002g0021 a0013c0021t0002g0012 |
3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.2737+1537C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30061238 | |||||||
| chr17:30061338 | G | T | 1 | a0001c0001t0001g0120 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.2737+1637G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30061338 | |||||||
| chr17:30061469 | T | A | 164 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(161): Show |
164 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(161): Show |
intron_variant | MODIFIER | c.2737+1768T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30061469 | |||||||
| chr17:30061477 | A | G | 4 | a0003c0006t0002g0003 a0003c0006t0002g0004 a0003c0006t0002g0005 others(1): Show |
4 | HG02895.hp2 HG03486.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.2737+1776A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30061477 | |||||||
| chr17:30061919 | C | T | 6 | a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0146 others(3): Show |
6 | HG01243.hp1 HG01884.hp2 HG02258.hp2 others(3): Show |
intron_variant | MODIFIER | c.2737+2218C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30061919 | |||||||
| chr17:30062085 | A | C | 164 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(161): Show |
164 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(161): Show |
intron_variant | MODIFIER | c.2737+2384A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30062085 | |||||||
| chr17:30062104 | A | G | 1 | a0001c0001t0001g0191 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.2737+2403A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30062104 | |||||||
| chr17:30062286 | C | G | 1 | a0003c0013t0002g0217 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.2737+2585C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30062286 | |||||||
| chr17:30062558 | G | A | 49 | a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0162 others(46): Show |
49 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(46): Show |
intron_variant | MODIFIER | c.2737+2857G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30062558 | |||||||
| chr17:30062869 | A | G | 2 | a0009c0011t0002g0020 a0009c0011t0002g0021 |
2 | HG01891.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.2737+3168A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30062869 | |||||||
| chr17:30062922 | G | T | 3 | a0003c0003t0002g0132 a0003c0003t0002g0133 a0003c0003t0002g0134 |
3 | HG02572.hp2 HG03098.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.2737+3221G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30062922 | |||||||
| chr17:30062931 | G | T | 1 | a0002c0016t0002g0014 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.2737+3230G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30062931 | |||||||
| chr17:30063119 | C | T | 1 | a0003c0014t0002g0006 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2737+3418C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30063119 | |||||||
| chr17:30063714 | C | G | 2 | a0001c0001t0001g0210 a0001c0001t0001g0233 |
2 | NA18951.hp1 NA19067.hp2 |
intron_variant | MODIFIER | c.2737+4013C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30063714 | |||||||
| chr17:30063843 | G | A | 3 | a0001c0001t0001g0155 a0001c0001t0001g0204 a0001c0001t0001g0205 |
3 | HG02622.hp2 HG03041.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.2737+4142G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30063843 | |||||||
| chr17:30063944 | C | T | 2 | a0002c0002t0002g0013 a0002c0016t0002g0014 |
2 | NA18964.hp2 NA19004.hp1 |
intron_variant | MODIFIER | c.2737+4243C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30063944 | |||||||
| chr17:30064058 | A | G | 160 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(157): Show |
160 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(157): Show |
intron_variant | MODIFIER | c.2737+4357A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30064058 | |||||||
| chr17:30064219 | T | A | 1 | a0003c0003t0002g0139 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.2737+4518T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30064219 | |||||||
| chr17:30064228 | T | C | 10 | a0003c0013t0002g0217 a0004c0004t0002g0015 a0004c0004t0002g0097 others(7): Show |
10 | HG02055.hp1 HG02559.hp2 HG02895.hp1 others(7): Show |
intron_variant | MODIFIER | c.2737+4527T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30064228 | |||||||
| chr17:30064252 | T | C | 239 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(236): Show |
240 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(237): Show |
intron_variant | MODIFIER | c.2737+4551T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30064252 | |||||||
| chr17:30064273 | A | G | 1 | a0002c0002t0002g0060 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.2737+4572A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30064273 | |||||||
| chr17:30064275 | A | G | 35 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(32): Show |
35 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(32): Show |
intron_variant | MODIFIER | c.2737+4574A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30064275 | |||||||
| chr17:30064650 | G | A | 2 | a0003c0003t0002g0132 a0003c0003t0002g0133 |
2 | HG02572.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.2737+4949G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30064650 | |||||||
| chr17:30065045 | G | A | 3 | a0009c0011t0002g0020 a0009c0011t0002g0021 a0013c0021t0002g0012 |
3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.2737+5344G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30065045 | |||||||
| chr17:30065100 | T | C | 1 | a0001c0001t0001g0115 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.2737+5399T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30065100 | |||||||
| chr17:30065390 | G | A | 1 | a0002c0002t0002g0057 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.2737+5689G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30065390 | |||||||
| chr17:30065437 | C | T | 2 | a0003c0003t0002g0213 a0003c0003t0002g0214 |
2 | HG01884.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.2737+5736C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30065437 | |||||||
| chr17:30065686 | A | T | 3 | a0009c0011t0002g0020 a0009c0011t0002g0021 a0013c0021t0002g0012 |
3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.2737+5985A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30065686 | |||||||
| chr17:30065749 | G | A | 1 | a0001c0001t0001g0168 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.2737+6048G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30065749 | |||||||
| chr17:30065928 | G | A | 160 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(157): Show |
160 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(157): Show |
intron_variant | MODIFIER | c.2737+6227G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30065928 | |||||||
| chr17:30065934 | G | A | 2 | a0003c0003t0002g0213 a0003c0003t0002g0214 |
2 | HG01884.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.2737+6233G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30065934 | |||||||
| chr17:30065938 | T | C | 32 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(29): Show |
32 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(29): Show |
intron_variant | MODIFIER | c.2737+6237T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30065938 | |||||||
| chr17:30065939 | C | CAA | 32 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(29): Show |
32 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(29): Show |
intron_variant | MODIFIER | c.2737+6238_2737+623 others(6): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30065939 | |||||||
| chr17:30065940 | T | C | 32 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(29): Show |
32 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(29): Show |
intron_variant | MODIFIER | c.2737+6239T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30065940 | |||||||
| chr17:30065941 | G | A | 32 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(29): Show |
32 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(29): Show |
intron_variant | MODIFIER | c.2737+6240G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30065941 | |||||||
| chr17:30066258 | T | C | 1 | a0002c0002t0002g0080 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.2737+6557T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30066258 | |||||||
| chr17:30066386 | T | A | 1 | a0002c0002t0002g0091 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.2737+6685T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30066386 | |||||||
| chr17:30066410 | A | T | 4 | a0003c0003t0002g0132 a0003c0003t0002g0133 a0003c0003t0002g0134 others(1): Show |
4 | HG02572.hp2 HG03098.hp2 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.2737+6709A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30066410 | |||||||
| chr17:30066781 | C | G | 65 | a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0013 others(62): Show |
66 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(63): Show |
intron_variant | MODIFIER | c.2737+7080C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30066781 | |||||||
| chr17:30066798 | C | G | 1 | a0002c0002t0002g0049 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.2737+7097C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30066798 | |||||||
| chr17:30066910 | C | A | 3 | a0001c0001t0001g0150 a0001c0001t0001g0160 a0001c0001t0001g0207 |
3 | HG02723.hp1 HG03139.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.2737+7209C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30066910 | |||||||
| chr17:30067096 | T | G | 1 | a0001c0001t0001g0167 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.2737+7395T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30067096 | |||||||
| chr17:30067181 | A | G | 1 | a0002c0002t0002g0096 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.2737+7480A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30067181 | |||||||
| chr17:30067254 | T | A | 3 | a0005c0007t0002g0136 a0005c0007t0002g0137 a0005c0007t0002g0138 |
3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.2737+7553T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30067254 | |||||||
| chr17:30067357 | C | G | 3 | a0003c0006t0002g0003 a0003c0006t0002g0004 a0003c0006t0002g0005 |
3 | HG02895.hp2 NA18906.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.2737+7656C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30067357 | |||||||
| chr17:30067376 | G | T | 3 | a0009c0011t0002g0020 a0009c0011t0002g0021 a0013c0021t0002g0012 |
3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.2737+7675G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30067376 | |||||||
| chr17:30067483 | A | G | 1 | a0002c0020t0002g0019 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.2737+7782A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30067483 | |||||||
| chr17:30067517 | C | G | 6 | a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0146 others(3): Show |
6 | HG01243.hp1 HG01884.hp2 HG02258.hp2 others(3): Show |
intron_variant | MODIFIER | c.2737+7816C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30067517 | |||||||
| chr17:30067603 | G | A | 1 | a0002c0002t0002g0027 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.2737+7902G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30067603 | |||||||
| chr17:30067729 | A | G | 160 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(157): Show |
160 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(157): Show |
intron_variant | MODIFIER | c.2737+8028A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30067729 | |||||||
| chr17:30067849 | G | A | 1 | a0001c0001t0001g0192 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.2737+8148G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30067849 | |||||||
| chr17:30067855 | G | A | 4 | a0003c0006t0002g0003 a0003c0006t0002g0004 a0003c0006t0002g0005 others(1): Show |
4 | HG02895.hp2 HG03486.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.2737+8154G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30067855 | |||||||
| chr17:30068033 | C | A | 122 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(119): Show |
122 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(119): Show |
intron_variant | MODIFIER | c.2737+8332C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30068033 | |||||||
| chr17:30068043 | C | T | 1 | a0001c0001t0001g0205 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2737+8342C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30068043 | |||||||
| chr17:30068065 | G | A | 2 | a0006c0008t0002g0016 a0006c0008t0002g0017 |
2 | HG02723.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.2737+8364G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30068065 | |||||||
| chr17:30068295 | C | G | 1 | a0001c0001t0001g0150 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.2737+8594C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30068295 | |||||||
| chr17:30068309 | GA | G | 9 | a0004c0004t0002g0015 a0004c0004t0002g0097 a0004c0004t0002g0098 others(6): Show |
9 | HG02055.hp1 HG02895.hp1 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.2737+8620delA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr17 | 30068309 | ||||||
| chr17:30068502 | C | T | 2 | a0003c0003t0002g0140 a0003c0003t0002g0141 |
2 | HG01516.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.2737+8801C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30068502 | |||||||
| chr17:30068719 | G | A | 1 | a0001c0001t0001g0189 | 1 | HG01517.hp1 | intron_variant | MODIFIER | c.2737+9018G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30068719 | |||||||
| chr17:30069124 | A | G | 1 | a0001c0001t0001g0223 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.2738-9091A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30069124 | |||||||
| chr17:30069151 | G | A | 2 | a0001c0001t0001g0156 a0001c0001t0001g0193 |
2 | HG02735.hp2 HG04204.hp2 |
intron_variant | MODIFIER | c.2738-9064G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30069151 | |||||||
| chr17:30069354 | T | C | 2 | a0001c0001t0001g0235 a0001c0001t0001g0238 |
2 | NA18964.hp1 NA19054.hp1 |
intron_variant | MODIFIER | c.2738-8861T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30069354 | |||||||
| chr17:30069703 | G | C | 160 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(157): Show |
160 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(157): Show |
intron_variant | MODIFIER | c.2738-8512G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30069703 | |||||||
| chr17:30069705 | C | T | 3 | a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0113 |
3 | HG03139.hp2 NA18906.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.2738-8510C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30069705 | |||||||
| chr17:30069791 | C | T | 3 | a0009c0011t0002g0020 a0009c0011t0002g0021 a0013c0021t0002g0012 |
3 | HG01891.hp1 HG02451.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.2738-8424C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30069791 | |||||||
| chr17:30069844 | G | A | 1 | a0002c0016t0002g0014 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.2738-8371G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30069844 | |||||||
| chr17:30069971 | G | T | 1 | a0001c0026t0004g0159 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2738-8244G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30069971 | |||||||
| chr17:30070171 | T | C | 2 | a0001c0001t0001g0010 a0001c0001t0001g0166 |
2 | NA18940.hp2 NA19001.hp1 |
intron_variant | MODIFIER | c.2738-8044T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30070171 | |||||||
| chr17:30070346 | C | A | 17 | a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 others(14): Show |
17 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(14): Show |
intron_variant | MODIFIER | c.2738-7869C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30070346 | |||||||
| chr17:30070580 | T | C | 10 | a0003c0013t0002g0217 a0004c0004t0002g0015 a0004c0004t0002g0097 others(7): Show |
10 | HG02055.hp1 HG02559.hp2 HG02895.hp1 others(7): Show |
intron_variant | MODIFIER | c.2738-7635T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30070580 | |||||||
| chr17:30070758 | T | C | 32 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0132 others(29): Show |
32 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(29): Show |
intron_variant | MODIFIER | c.2738-7457T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30070758 | |||||||
| chr17:30070889 | G | A | 3 | a0001c0001t0001g0227 a0001c0001t0001g0243 a0001c0001t0001g0246 |
3 | NA18963.hp1 NA19006.hp2 NA19080.hp1 |
intron_variant | MODIFIER | c.2738-7326G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30070889 | |||||||
| chr17:30070949 | C | CA | 16 | a0002c0002t0002g0026 a0002c0002t0002g0044 a0002c0002t0002g0047 others(13): Show |
16 | HG00408.hp2 HG00621.hp1 HG02056.hp2 others(13): Show |
intron_variant | MODIFIER | c.2738-7237dupA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr17 | 30070949 | ||||||
| chr17:30070949 | CA | C | 16 | a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 others(13): Show |
16 | HG00323.hp1 HG00639.hp2 HG01496.hp2 others(13): Show |
intron_variant | MODIFIER | c.2738-7237delA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr17 | 30070949 | ||||||
| chr17:30070949 | CAA | C | 27 | a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0114 others(24): Show |
27 | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(24): Show |
intron_variant | MODIFIER | c.2738-7238_2738-723 others(6): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr17 | 30070949 | ||||||
| chr17:30070949 | CAAA | C | 91 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(88): Show |
91 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(88): Show |
intron_variant | MODIFIER | c.2738-7239_2738-723 others(7): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr17 | 30070949 | ||||||
| chr17:30070949 | CAAAA | C | 20 | a0001c0001t0001g0167 a0001c0001t0001g0185 a0003c0003t0002g0130 others(17): Show |
20 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(17): Show |
intron_variant | MODIFIER | c.2738-7240_2738-723 others(8): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr17 | 30070949 | ||||||
| chr17:30070949 | CAAAAAAA others(3): Show |
C | 2 | a0001c0001t0001g0010 a0001c0001t0001g0166 |
2 | NA18940.hp2 NA19001.hp1 |
intron_variant | MODIFIER | c.2738-7246_2738-723 others(14): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr17 | 30070949 | ||||||
| chr17:30070949 | CAAAAAAA others(4): Show |
C | 2 | a0003c0006t0002g0003 a0003c0006t0002g0005 |
2 | HG02895.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.2738-7247_2738-723 others(15): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr17 | 30070949 | ||||||
| chr17:30070949 | CAAAAAAA others(5): Show |
C | 1 | a0003c0006t0002g0004 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.2738-7248_2738-723 others(16): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr17 | 30070949 | ||||||
| chr17:30071120 | G | A | 1 | a0009c0011t0002g0021 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2738-7095G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30071120 | |||||||
| chr17:30071256 | T | G | 1 | a0001c0012t0001g0187 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.2738-6959T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30071256 | |||||||
| chr17:30071290 | T | TTATGTAG others(1212): Show |
1 | a0001c0001t0001g0202 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.2738-6925_2738-692 others(1223): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30071290 | |||||||
| chr17:30071290 | T | TTATGTAG others(1213): Show |
1 | a0001c0001t0001g0146 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.2738-6925_2738-692 others(1224): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30071290 | |||||||
| chr17:30071290 | T | TTATGTAG others(1212): Show |
1 | a0001c0001t0001g0183 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.2738-6925_2738-692 others(1223): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30071290 | |||||||
| chr17:30071290 | T | TTATGTAG others(1213): Show |
1 | a0001c0001t0001g0182 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.2738-6925_2738-692 others(1224): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30071290 | |||||||
| chr17:30071290 | T | TTATGTAG others(1206): Show |
1 | a0001c0001t0001g0192 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.2738-6925_2738-692 others(1217): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30071290 | |||||||
| chr17:30071290 | T | TTATGTAG others(1205): Show |
3 | a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 |
3 | HG02523.hp2 HG02683.hp1 NA18955.hp1 |
intron_variant | MODIFIER | c.2738-6925_2738-692 others(1216): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30071290 | |||||||
| chr17:30071290 | T | TTATGTAG others(1206): Show |
4 | a0001c0001t0001g0156 a0001c0001t0001g0185 a0001c0001t0001g0193 others(1): Show |
4 | HG02735.hp2 HG04204.hp2 NA18964.hp1 others(1): Show |
intron_variant | MODIFIER | c.2738-6925_2738-692 others(1217): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30071290 | |||||||
| chr17:30071290 | T | TTATGTAG others(1207): Show |
42 | a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 others(39): Show |
42 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(39): Show |
intron_variant | MODIFIER | c.2738-6925_2738-692 others(1218): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30071290 | |||||||
| chr17:30071290 | T | TTATGTAG others(1208): Show |
1 | a0001c0001t0001g0152 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.2738-6925_2738-692 others(1219): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30071290 | |||||||
| chr17:30071290 | T | TTATGTAG others(1210): Show |
3 | a0001c0001t0001g0148 a0001c0001t0001g0176 a0001c0001t0001g0177 |
3 | HG01891.hp2 HG01934.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.2738-6925_2738-692 others(1221): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30071290 | |||||||
| chr17:30071290 | T | TTATGTAG others(1211): Show |
1 | a0001c0001t0001g0206 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.2738-6925_2738-692 others(1222): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30071290 | |||||||
| chr17:30071290 | T | TTATGTAG others(1212): Show |
14 | a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0150 others(11): Show |
14 | HG00408.hp1 HG02630.hp2 HG02723.hp1 others(11): Show |
intron_variant | MODIFIER | c.2738-6925_2738-692 others(1223): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30071290 | |||||||
| chr17:30071290 | T | TTATGTAG others(1213): Show |
35 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(32): Show |
35 | HG00140.hp1 HG00621.hp2 HG00639.hp2 others(32): Show |
intron_variant | MODIFIER | c.2738-6925_2738-692 others(1224): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30071290 | |||||||
| chr17:30071290 | T | TTATGTAG others(1214): Show |
9 | a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 others(6): Show |
9 | HG00609.hp2 HG01069.hp2 HG01071.hp2 others(6): Show |
intron_variant | MODIFIER | c.2738-6925_2738-692 others(1225): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30071290 | |||||||
| chr17:30071290 | T | TTATGTAG others(1215): Show |
2 | a0009c0011t0002g0020 a0009c0011t0002g0021 |
2 | HG01891.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.2738-6925_2738-692 others(1226): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30071290 | |||||||
| chr17:30071290 | T | TTATGTAG others(1213): Show |
1 | a0011c0025t0001g0181 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.2738-6925_2738-692 others(1224): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30071290 | |||||||
| chr17:30071290 | T | TTATGTAG others(1207): Show |
1 | a0001c0001t0001g0190 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.2738-6925_2738-692 others(1218): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30071290 | |||||||
| chr17:30071292 | G | A | 115 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(112): Show |
115 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(112): Show |
intron_variant | MODIFIER | c.2738-6923G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30071292 | |||||||
| chr17:30071293 | C | A | 121 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(118): Show |
121 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(118): Show |
intron_variant | MODIFIER | c.2738-6922C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30071293 | |||||||
| chr17:30071294 | C | A | 121 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(118): Show |
121 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(118): Show |
intron_variant | MODIFIER | c.2738-6921C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30071294 | |||||||
| chr17:30071403 | G | A | 1 | a0005c0007t0002g0137 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.2738-6812G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30071403 | |||||||
| chr17:30071574 | A | G | 1 | a0001c0001t0001g0180 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.2738-6641A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30071574 | |||||||
| chr17:30071628 | T | C | 25 | a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0113 others(22): Show |
25 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(22): Show |
intron_variant | MODIFIER | c.2738-6587T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30071628 | |||||||
| chr17:30071959 | A | G | 165 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(162): Show |
165 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(162): Show |
intron_variant | MODIFIER | c.2738-6256A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30071959 | |||||||
| chr17:30072493 | G | C | 34 | a0002c0017t0002g0035 a0003c0003t0002g0129 a0003c0003t0002g0130 others(31): Show |
34 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(31): Show |
intron_variant | MODIFIER | c.2738-5722G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30072493 | |||||||
| chr17:30072628 | A | G | 1 | a0003c0014t0002g0006 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2738-5587A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30072628 | |||||||
| chr17:30073136 | G | A | 1 | a0013c0021t0002g0012 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.2738-5079G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30073136 | |||||||
| chr17:30073308 | C | T | 30 | a0002c0017t0002g0035 a0003c0003t0002g0129 a0003c0003t0002g0130 others(27): Show |
30 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(27): Show |
intron_variant | MODIFIER | c.2738-4907C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30073308 | |||||||
| chr17:30073390 | C | A | 2 | a0002c0002t0002g0051 a0002c0002t0002g0073 |
2 | HG01069.hp1 HG02572.hp1 |
intron_variant | MODIFIER | c.2738-4825C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30073390 | |||||||
| chr17:30073489 | T | C | 5 | a0002c0017t0002g0035 a0003c0003t0002g0132 a0003c0003t0002g0133 others(2): Show |
5 | HG02572.hp2 HG03098.hp2 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.2738-4726T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30073489 | |||||||
| chr17:30073498 | C | A | 158 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(155): Show |
158 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(155): Show |
intron_variant | MODIFIER | c.2738-4717C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30073498 | |||||||
| chr17:30073530 | G | T | 1 | a0002c0002t0002g0088 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.2738-4685G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30073530 | |||||||
| chr17:30073531 | G | A | 1 | a0002c0002t0002g0088 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.2738-4684G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30073531 | |||||||
| chr17:30073533 | C | A | 1 | a0002c0002t0002g0088 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.2738-4682C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30073533 | |||||||
| chr17:30073544 | A | G | 1 | a0002c0002t0002g0088 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.2738-4671A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30073544 | |||||||
| chr17:30073546 | A | T | 1 | a0002c0002t0002g0088 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.2738-4669A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30073546 | |||||||
| chr17:30073547 | T | G | 1 | a0002c0002t0002g0088 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.2738-4668T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30073547 | |||||||
| chr17:30073549 | A | T | 1 | a0002c0002t0002g0088 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.2738-4666A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30073549 | |||||||
| chr17:30073957 | G | A | 2 | a0002c0002t0002g0029 a0002c0002t0002g0030 |
2 | HG00741.hp2 HG01346.hp1 |
intron_variant | MODIFIER | c.2738-4258G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30073957 | |||||||
| chr17:30073975 | A | G | 1 | a0003c0014t0002g0006 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2738-4240A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30073975 | |||||||
| chr17:30074138 | A | T | 1 | a0002c0002t0002g0088 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.2738-4077A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30074138 | |||||||
| chr17:30074653 | T | C | 1 | a0001c0001t0001g0115 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.2738-3562T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30074653 | |||||||
| chr17:30074722 | A | G | 124 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(121): Show |
124 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(121): Show |
intron_variant | MODIFIER | c.2738-3493A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30074722 | |||||||
| chr17:30074869 | T | G | 9 | a0004c0004t0002g0015 a0004c0004t0002g0097 a0004c0004t0002g0098 others(6): Show |
9 | HG02055.hp1 HG02895.hp1 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.2738-3346T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30074869 | |||||||
| chr17:30074902 | C | T | 1 | a0001c0001t0001g0205 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2738-3313C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30074902 | |||||||
| chr17:30075204 | A | T | 1 | a0001c0001t0001g0226 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.2738-3011A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30075204 | |||||||
| chr17:30075582 | C | G | 4 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(1): Show |
4 | HG01433.hp1 HG02486.hp1 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.2738-2633C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30075582 | |||||||
| chr17:30075605 | C | T | 4 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(1): Show |
4 | HG01433.hp1 HG02486.hp1 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.2738-2610C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30075605 | |||||||
| chr17:30075616 | T | C | 3 | a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0113 |
3 | HG03139.hp2 NA18906.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.2738-2599T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30075616 | |||||||
| chr17:30075719 | C | T | 124 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(121): Show |
124 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(121): Show |
intron_variant | MODIFIER | c.2738-2496C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30075719 | |||||||
| chr17:30075736 | C | G | 1 | a0002c0020t0002g0019 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.2738-2479C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30075736 | |||||||
| chr17:30075920 | G | A | 1 | a0001c0001t0001g0174 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.2738-2295G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30075920 | |||||||
| chr17:30076054 | C | T | 1 | a0001c0001t0001g0206 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.2738-2161C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30076054 | |||||||
| chr17:30076094 | T | C | 124 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(121): Show |
124 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(121): Show |
intron_variant | MODIFIER | c.2738-2121T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30076094 | |||||||
| chr17:30076119 | T | TCCTTTCT others(11): Show |
2 | a0001c0001t0001g0240 a0001c0001t0001g0241 |
2 | HG01167.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.2738-2096_2738-209 others(22): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30076119 | |||||||
| chr17:30076292 | T | TACTAAAC others(5): Show |
1 | a0002c0002t0002g0026 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.2738-1919_2738-190 others(16): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr17 | 30076292 | ||||||
| chr17:30076330 | A | G | 165 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(162): Show |
165 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(162): Show |
intron_variant | MODIFIER | c.2738-1885A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30076330 | |||||||
| chr17:30076579 | T | C | 3 | a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0113 |
3 | HG03139.hp2 NA18906.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.2738-1636T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30076579 | |||||||
| chr17:30077067 | T | G | 3 | a0005c0007t0002g0136 a0005c0007t0002g0137 a0005c0007t0002g0138 |
3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.2738-1148T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30077067 | |||||||
| chr17:30077335 | C | T | 1 | a0003c0014t0002g0006 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2738-880C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30077335 | |||||||
| chr17:30077562 | G | T | 5 | a0002c0017t0002g0035 a0003c0003t0002g0132 a0003c0003t0002g0133 others(2): Show |
5 | HG02572.hp2 HG03098.hp2 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.2738-653G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30077562 | |||||||
| chr17:30077689 | C | T | 34 | a0002c0017t0002g0035 a0003c0003t0002g0129 a0003c0003t0002g0130 others(31): Show |
34 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(31): Show |
intron_variant | MODIFIER | c.2738-526C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30077689 | |||||||
| chr17:30078043 | T | C | 4 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(1): Show |
4 | HG01433.hp1 HG02486.hp1 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.2738-172T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30078043 | |||||||
| chr17:30078071 | G | T | 4 | a0002c0020t0002g0019 a0006c0008t0002g0016 a0006c0008t0002g0017 others(1): Show |
4 | HG02615.hp2 HG02723.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.2738-144G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | chr17 | 30078071 | |||||||
| chr17:30078524 | A | G | 1 | a0001c0001t0001g0199 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.3027+20A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 15/22 | chr17 | 30078524 | |||||||
| chr17:30078625 | T | C | 2 | a0002c0002t0002g0031 a0002c0002t0002g0049 |
2 | HG01496.hp2 HG02004.hp2 |
intron_variant | MODIFIER | c.3027+121T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 15/22 | chr17 | 30078625 | |||||||
| chr17:30078719 | G | GGTAGAAA others(8): Show |
2 | a0001c0001t0001g0010 a0001c0001t0001g0208 |
2 | NA19001.hp1 NA19001.hp2 |
intron_variant | MODIFIER | c.3027+226_3027+240d others(17): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr17 | 30078719 | ||||||
| chr17:30078734 | T | G | 1 | a0001c0001t0001g0199 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.3027+230T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 15/22 | chr17 | 30078734 | |||||||
| chr17:30078743 | G | T | 2 | a0003c0003t0002g0213 a0003c0003t0002g0214 |
2 | HG01884.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.3027+239G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 15/22 | chr17 | 30078743 | |||||||
| chr17:30078807 | C | A | 1 | a0001c0001t0001g0225 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.3027+303C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 15/22 | chr17 | 30078807 | |||||||
| chr17:30078825 | A | G | 1 | a0002c0002t0002g0088 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.3027+321A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 15/22 | chr17 | 30078825 | |||||||
| chr17:30078846 | T | C | 1 | a0002c0002t0002g0105 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.3027+342T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 15/22 | chr17 | 30078846 | |||||||
| chr17:30079000 | C | T | 122 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(119): Show |
122 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(119): Show |
intron_variant | MODIFIER | c.3027+496C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 15/22 | chr17 | 30079000 | |||||||
| chr17:30079090 | C | T | 158 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(155): Show |
158 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(155): Show |
intron_variant | MODIFIER | c.3027+586C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 15/22 | chr17 | 30079090 | |||||||
| chr17:30079244 | A | G | 1 | a0001c0001t0001g0206 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.3027+740A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 15/22 | chr17 | 30079244 | |||||||
| chr17:30079530 | C | T | 2 | a0003c0003t0002g0213 a0003c0003t0002g0214 |
2 | HG01884.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.3028-542C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 15/22 | chr17 | 30079530 | |||||||
| chr17:30079603 | T | C | 3 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0139 |
3 | HG01433.hp1 HG02486.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.3028-469T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 15/22 | chr17 | 30079603 | |||||||
| chr17:30079619 | A | T | 19 | a0002c0017t0002g0035 a0003c0003t0002g0129 a0003c0003t0002g0130 others(16): Show |
19 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(16): Show |
intron_variant | MODIFIER | c.3028-453A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 15/22 | chr17 | 30079619 | |||||||
| chr17:30079642 | T | C | 4 | a0002c0005t0002g0025 a0002c0005t0002g0038 a0002c0005t0002g0059 others(1): Show |
4 | HG02132.hp1 HG02698.hp2 NA18963.hp2 others(1): Show |
intron_variant | MODIFIER | c.3028-430T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 15/22 | chr17 | 30079642 | |||||||
| chr17:30079873 | T | C | 1 | a0001c0001t0001g0188 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.3028-199T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 15/22 | chr17 | 30079873 | |||||||
| chr17:30080269 | C | T | 163 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(160): Show |
163 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(160): Show |
intron_variant | MODIFIER | c.3197+28C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 16/22 | chr17 | 30080269 | |||||||
| chr17:30080550 | GT | G | 127 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(124): Show |
127 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(124): Show |
intron_variant | MODIFIER | c.3198-189delT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr17 | 30080550 | ||||||
| chr17:30080561 | T | G | 155 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(152): Show |
155 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(152): Show |
intron_variant | MODIFIER | c.3198-192T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 16/22 | chr17 | 30080561 | |||||||
| chr17:30080566 | T | C | 4 | a0005c0007t0002g0136 a0005c0007t0002g0137 a0005c0007t0002g0138 others(1): Show |
4 | HG02258.hp1 HG02451.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.3198-187T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 16/22 | chr17 | 30080566 | |||||||
| chr17:30080645 | T | TCATATAA | 3 | a0005c0007t0002g0136 a0005c0007t0002g0137 a0005c0007t0002g0138 |
3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.3198-107_3198-101d others(9): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr17 | 30080645 | ||||||
| chr17:30081052 | C | T | 121 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(118): Show |
121 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(118): Show |
intron_variant | MODIFIER | c.3426+71C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 17/22 | chr17 | 30081052 | |||||||
| chr17:30081061 | C | T | 1 | a0002c0020t0002g0019 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.3426+80C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 17/22 | chr17 | 30081061 | |||||||
| chr17:30081199 | C | T | 121 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(118): Show |
121 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(118): Show |
intron_variant | MODIFIER | c.3426+218C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 17/22 | chr17 | 30081199 | |||||||
| chr17:30081212 | T | C | 1 | a0002c0002t0002g0034 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.3426+231T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 17/22 | chr17 | 30081212 | |||||||
| chr17:30081310 | G | A | 2 | a0003c0003t0002g0213 a0003c0003t0002g0214 |
2 | HG01884.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.3426+329G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 17/22 | chr17 | 30081310 | |||||||
| chr17:30081372 | A | T | 1 | a0001c0001t0001g0007 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.3426+391A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 17/22 | chr17 | 30081372 | |||||||
| chr17:30081499 | G | A | 4 | a0005c0007t0002g0136 a0005c0007t0002g0137 a0005c0007t0002g0138 others(1): Show |
4 | HG02258.hp1 HG02451.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.3426+518G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 17/22 | chr17 | 30081499 | |||||||
| chr17:30081676 | G | A | 1 | a0001c0001t0001g0162 | 1 | HG02273.hp2 | intron_variant | MODIFIER | c.3426+695G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 17/22 | chr17 | 30081676 | |||||||
| chr17:30081839 | A | T | 1 | a0013c0021t0002g0012 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.3426+858A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 17/22 | chr17 | 30081839 | |||||||
| chr17:30081949 | C | T | 10 | a0003c0013t0002g0217 a0004c0004t0002g0015 a0004c0004t0002g0097 others(7): Show |
10 | HG02055.hp1 HG02559.hp2 HG02895.hp1 others(7): Show |
intron_variant | MODIFIER | c.3427-942C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 17/22 | chr17 | 30081949 | |||||||
| chr17:30082246 | T | C | 121 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(118): Show |
121 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(118): Show |
intron_variant | MODIFIER | c.3427-645T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 17/22 | chr17 | 30082246 | |||||||
| chr17:30082390 | C | CT | 124 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(121): Show |
124 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(121): Show |
intron_variant | MODIFIER | c.3427-479dupT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr17 | 30082390 | ||||||
| chr17:30082390 | C | CTT | 11 | a0001c0001t0001g0157 a0001c0001t0001g0180 a0001c0001t0001g0203 others(8): Show |
11 | HG01243.hp2 HG01496.hp1 HG01516.hp1 others(8): Show |
intron_variant | MODIFIER | c.3427-480_3427-479d others(4): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr17 | 30082390 | ||||||
| chr17:30082390 | CT | C | 9 | a0002c0002t0002g0023 a0002c0002t0002g0036 a0002c0020t0002g0019 others(6): Show |
9 | HG02615.hp2 HG02630.hp1 HG02723.hp2 others(6): Show |
intron_variant | MODIFIER | c.3427-479delT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr17 | 30082390 | ||||||
| chr17:30082451 | T | C | 2 | a0003c0003t0002g0213 a0003c0003t0002g0214 |
2 | HG01884.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.3427-440T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 17/22 | chr17 | 30082451 | |||||||
| chr17:30082586 | T | C | 1 | a0002c0002t0002g0049 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.3427-305T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 17/22 | chr17 | 30082586 | |||||||
| chr17:30082629 | G | A | 2 | a0001c0001t0001g0218 a0001c0001t0001g0220 |
2 | HG00642.hp1 HG03927.hp1 |
intron_variant | MODIFIER | c.3427-262G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 17/22 | chr17 | 30082629 | |||||||
| chr17:30082809 | G | A | 3 | a0001c0001t0001g0152 a0001c0001t0001g0189 a0001c0001t0001g0191 |
3 | HG00140.hp2 HG00733.hp2 HG01517.hp1 |
intron_variant | MODIFIER | c.3427-82G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 17/22 | chr17 | 30082809 | |||||||
| chr17:30083084 | C | T | 2 | a0002c0002t0002g0029 a0002c0002t0002g0030 |
2 | HG00741.hp2 HG01346.hp1 |
intron_variant | MODIFIER | c.3579+41C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30083084 | |||||||
| chr17:30083096 | T | C | 1 | a0003c0014t0002g0006 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.3579+53T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30083096 | |||||||
| chr17:30083106 | T | C | 118 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(115): Show |
118 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(115): Show |
intron_variant | MODIFIER | c.3579+63T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30083106 | |||||||
| chr17:30083258 | C | T | 7 | a0001c0001t0001g0179 a0001c0001t0001g0234 a0001c0001t0001g0235 others(4): Show |
7 | HG01978.hp1 HG01993.hp2 HG02004.hp1 others(4): Show |
intron_variant | MODIFIER | c.3579+215C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30083258 | |||||||
| chr17:30083259 | A | G | 93 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(90): Show |
93 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(90): Show |
intron_variant | MODIFIER | c.3579+216A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30083259 | |||||||
| chr17:30083306 | G | A | 93 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(90): Show |
93 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(90): Show |
intron_variant | MODIFIER | c.3579+263G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30083306 | |||||||
| chr17:30083364 | T | C | 1 | a0013c0021t0002g0012 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.3579+321T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30083364 | |||||||
| chr17:30083477 | G | A | 1 | a0003c0003t0002g0131 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.3579+434G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30083477 | |||||||
| chr17:30083547 | C | G | 2 | a0003c0003t0002g0215 a0003c0003t0002g0216 |
2 | HG02965.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.3579+504C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30083547 | |||||||
| chr17:30083645 | G | A | 4 | a0005c0007t0002g0136 a0005c0007t0002g0137 a0005c0007t0002g0138 others(1): Show |
4 | HG02258.hp1 HG02451.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.3579+602G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30083645 | |||||||
| chr17:30083867 | G | C | 1 | a0003c0014t0002g0006 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.3579+824G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30083867 | |||||||
| chr17:30084346 | G | A | 1 | a0001c0001t0001g0165 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.3579+1303G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30084346 | |||||||
| chr17:30084638 | C | G | 1 | a0007c0009t0002g0104 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.3579+1595C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30084638 | |||||||
| chr17:30084706 | TTCTC | T | 3 | a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0180 |
3 | HG03195.hp2 HG03471.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.3579+1669_3579+167 others(8): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr17 | 30084706 | ||||||
| chr17:30084984 | G | A | 8 | a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0043 others(5): Show |
8 | HG00621.hp1 HG02523.hp1 NA18940.hp1 others(5): Show |
intron_variant | MODIFIER | c.3579+1941G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30084984 | |||||||
| chr17:30085096 | C | T | 5 | a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 others(2): Show |
5 | HG02622.hp2 HG02717.hp1 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.3580-1967C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30085096 | |||||||
| chr17:30085125 | T | C | 1 | a0003c0013t0002g0217 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.3580-1938T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30085125 | |||||||
| chr17:30085197 | G | C | 4 | a0005c0007t0002g0136 a0005c0007t0002g0137 a0005c0007t0002g0138 others(1): Show |
4 | HG02258.hp1 HG02451.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.3580-1866G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30085197 | |||||||
| chr17:30085229 | A | G | 1 | a0002c0002t0002g0034 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.3580-1834A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30085229 | |||||||
| chr17:30085441 | T | C | 1 | a0002c0002t0002g0037 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.3580-1622T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30085441 | |||||||
| chr17:30085516 | C | T | 1 | a0002c0002t0002g0037 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.3580-1547C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30085516 | |||||||
| chr17:30085565 | A | G | 1 | a0001c0001t0001g0222 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.3580-1498A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30085565 | |||||||
| chr17:30085581 | C | T | 1 | a0001c0001t0001g0222 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.3580-1482C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30085581 | |||||||
| chr17:30085583 | C | T | 1 | a0001c0001t0001g0222 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.3580-1480C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30085583 | |||||||
| chr17:30085585 | G | A | 1 | a0001c0001t0001g0222 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.3580-1478G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30085585 | |||||||
| chr17:30085594 | G | A | 1 | a0001c0001t0001g0222 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.3580-1469G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30085594 | |||||||
| chr17:30085605 | C | T | 1 | a0001c0001t0001g0222 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.3580-1458C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30085605 | |||||||
| chr17:30085607 | T | A | 1 | a0001c0001t0001g0222 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.3580-1456T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30085607 | |||||||
| chr17:30085610 | T | C | 1 | a0001c0001t0001g0222 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.3580-1453T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30085610 | |||||||
| chr17:30085611 | G | A | 1 | a0001c0001t0001g0222 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.3580-1452G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30085611 | |||||||
| chr17:30085669 | G | A | 86 | a0001c0001t0001g0010 a0001c0001t0001g0147 a0001c0001t0001g0148 others(83): Show |
86 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(83): Show |
intron_variant | MODIFIER | c.3580-1394G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30085669 | |||||||
| chr17:30085719 | CA | C | 82 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 others(79): Show |
83 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(80): Show |
intron_variant | MODIFIER | c.3580-1325delA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr17 | 30085719 | ||||||
| chr17:30085719 | CAA | C | 152 | a0001c0001t0001g0010 a0001c0001t0001g0107 a0001c0001t0001g0108 others(149): Show |
152 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(149): Show |
intron_variant | MODIFIER | c.3580-1326_3580-132 others(6): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr17 | 30085719 | ||||||
| chr17:30085730 | A | G | 86 | a0001c0001t0001g0010 a0001c0001t0001g0147 a0001c0001t0001g0148 others(83): Show |
86 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(83): Show |
intron_variant | MODIFIER | c.3580-1333A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30085730 | |||||||
| chr17:30086106 | C | T | 2 | a0006c0008t0002g0016 a0006c0008t0002g0017 |
2 | HG02723.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.3580-957C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30086106 | |||||||
| chr17:30086111 | T | C | 48 | a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0162 others(45): Show |
48 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(45): Show |
intron_variant | MODIFIER | c.3580-952T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30086111 | |||||||
| chr17:30086149 | A | G | 1 | a0001c0001t0001g0120 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.3580-914A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30086149 | |||||||
| chr17:30086275 | C | A | 1 | a0002c0020t0002g0019 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.3580-788C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30086275 | |||||||
| chr17:30086543 | C | T | 3 | a0001c0001t0001g0150 a0001c0001t0001g0160 a0001c0001t0001g0207 |
3 | HG02723.hp1 HG03139.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.3580-520C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30086543 | |||||||
| chr17:30086591 | C | CA | 90 | a0001c0001t0001g0010 a0001c0001t0001g0147 a0001c0001t0001g0148 others(87): Show |
90 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(87): Show |
intron_variant | MODIFIER | c.3580-461dupA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr17 | 30086591 | ||||||
| chr17:30086626 | C | T | 1 | a0001c0001t0001g0158 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.3580-437C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30086626 | |||||||
| chr17:30086688 | T | C | 1 | a0002c0002t0002g0044 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.3580-375T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30086688 | |||||||
| chr17:30086890 | C | G | 1 | a0003c0003t0002g0129 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.3580-173C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30086890 | |||||||
| chr17:30086893 | G | GA | 37 | a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 others(34): Show |
37 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(34): Show |
intron_variant | MODIFIER | c.3580-159dupA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr17 | 30086893 | ||||||
| chr17:30086920 | A | G | 37 | a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 others(34): Show |
37 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(34): Show |
intron_variant | MODIFIER | c.3580-143A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 18/22 | chr17 | 30086920 | |||||||
| chr17:30087343 | T | C | 1 | a0003c0003t0002g0215 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.3683+177T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 19/22 | chr17 | 30087343 | |||||||
| chr17:30087515 | C | T | 8 | a0005c0007t0002g0136 a0005c0007t0002g0137 a0005c0007t0002g0138 others(5): Show |
8 | HG02258.hp1 HG02451.hp1 HG02717.hp2 others(5): Show |
intron_variant | MODIFIER | c.3683+349C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 19/22 | chr17 | 30087515 | |||||||
| chr17:30087592 | C | A | 5 | a0002c0017t0002g0035 a0003c0003t0002g0132 a0003c0003t0002g0133 others(2): Show |
5 | HG02572.hp2 HG03098.hp2 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.3683+426C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 19/22 | chr17 | 30087592 | |||||||
| chr17:30087841 | A | T | 157 | a0001c0001t0001g0010 a0001c0001t0001g0107 a0001c0001t0001g0108 others(154): Show |
157 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(154): Show |
intron_variant | MODIFIER | c.3683+675A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 19/22 | chr17 | 30087841 | |||||||
| chr17:30087922 | C | T | 8 | a0005c0007t0002g0136 a0005c0007t0002g0137 a0005c0007t0002g0138 others(5): Show |
8 | HG02258.hp1 HG02451.hp1 HG02717.hp2 others(5): Show |
intron_variant | MODIFIER | c.3683+756C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 19/22 | chr17 | 30087922 | |||||||
| chr17:30088237 | C | T | 1 | a0002c0020t0002g0019 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.3683+1071C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 19/22 | chr17 | 30088237 | |||||||
| chr17:30088304 | A | T | 8 | a0005c0007t0002g0136 a0005c0007t0002g0137 a0005c0007t0002g0138 others(5): Show |
8 | HG02258.hp1 HG02451.hp1 HG02717.hp2 others(5): Show |
intron_variant | MODIFIER | c.3683+1138A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 19/22 | chr17 | 30088304 | |||||||
| chr17:30088540 | A | G | 1 | a0005c0007t0002g0138 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.3683+1374A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 19/22 | chr17 | 30088540 | |||||||
| chr17:30088596 | C | T | 12 | a0001c0001t0001g0197 a0002c0017t0002g0035 a0003c0003t0002g0132 others(9): Show |
12 | HG00741.hp1 HG01243.hp2 HG01516.hp1 others(9): Show |
intron_variant | MODIFIER | c.3683+1430C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 19/22 | chr17 | 30088596 | |||||||
| chr17:30088729 | C | T | 9 | a0004c0004t0002g0015 a0004c0004t0002g0097 a0004c0004t0002g0098 others(6): Show |
9 | HG02055.hp1 HG02895.hp1 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.3683+1563C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 19/22 | chr17 | 30088729 | |||||||
| chr17:30089019 | C | A | 1 | a0003c0014t0002g0006 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.3684-1402C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 19/22 | chr17 | 30089019 | |||||||
| chr17:30089103 | A | T | 8 | a0005c0007t0002g0136 a0005c0007t0002g0137 a0005c0007t0002g0138 others(5): Show |
8 | HG02258.hp1 HG02451.hp1 HG02717.hp2 others(5): Show |
intron_variant | MODIFIER | c.3684-1318A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 19/22 | chr17 | 30089103 | |||||||
| chr17:30089130 | C | T | 4 | a0006c0008t0002g0016 a0006c0008t0002g0017 a0006c0008t0002g0018 others(1): Show |
4 | HG02717.hp2 HG02723.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.3684-1291C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 19/22 | chr17 | 30089130 | |||||||
| chr17:30089776 | C | T | 8 | a0005c0007t0002g0136 a0005c0007t0002g0137 a0005c0007t0002g0138 others(5): Show |
8 | HG02258.hp1 HG02451.hp1 HG02717.hp2 others(5): Show |
intron_variant | MODIFIER | c.3684-645C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 19/22 | chr17 | 30089776 | |||||||
| chr17:30089815 | C | A | 1 | a0001c0001t0001g0120 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.3684-606C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 19/22 | chr17 | 30089815 | |||||||
| chr17:30089889 | C | T | 3 | a0001c0001t0001g0227 a0001c0001t0001g0243 a0001c0001t0001g0246 |
3 | NA18963.hp1 NA19006.hp2 NA19080.hp1 |
intron_variant | MODIFIER | c.3684-532C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 19/22 | chr17 | 30089889 | |||||||
| chr17:30089972 | T | C | 1 | a0011c0025t0001g0181 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.3684-449T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 19/22 | chr17 | 30089972 | |||||||
| chr17:30089976 | C | T | 3 | a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0113 |
3 | HG03139.hp2 NA18906.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.3684-445C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 19/22 | chr17 | 30089976 | |||||||
| chr17:30090011 | C | G | 45 | a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 others(42): Show |
45 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(42): Show |
intron_variant | MODIFIER | c.3684-410C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 19/22 | chr17 | 30090011 | |||||||
| chr17:30090314 | A | G | 1 | a0001c0001t0001g0228 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.3684-107A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 19/22 | chr17 | 30090314 | |||||||
| chr17:30090358 | T | C | 155 | a0001c0001t0001g0010 a0001c0001t0001g0107 a0001c0001t0001g0108 others(152): Show |
155 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(152): Show |
intron_variant | MODIFIER | c.3684-63T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 19/22 | chr17 | 30090358 | |||||||
| chr17:30090753 | G | A | 1 | a0001c0001t0001g0202 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.3937+79G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 20/22 | chr17 | 30090753 | |||||||
| chr17:30090782 | A | G | 1 | a0001c0001t0001g0164 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.3937+108A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 20/22 | chr17 | 30090782 | |||||||
| chr17:30090794 | A | C | 1 | a0001c0001t0001g0239 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.3937+120A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 20/22 | chr17 | 30090794 | |||||||
| chr17:30090824 | C | T | 1 | a0001c0001t0001g0112 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.3937+150C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 20/22 | chr17 | 30090824 | |||||||
| chr17:30090864 | G | A | 1 | a0003c0003t0002g0129 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.3937+190G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 20/22 | chr17 | 30090864 | |||||||
| chr17:30091023 | C | T | 155 | a0001c0001t0001g0010 a0001c0001t0001g0107 a0001c0001t0001g0108 others(152): Show |
155 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(152): Show |
intron_variant | MODIFIER | c.3937+349C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 20/22 | chr17 | 30091023 | |||||||
| chr17:30091152 | G | A | 1 | a0001c0001t0001g0165 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.3937+478G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 20/22 | chr17 | 30091152 | |||||||
| chr17:30091208 | A | G | 8 | a0005c0007t0002g0136 a0005c0007t0002g0137 a0005c0007t0002g0138 others(5): Show |
8 | HG02258.hp1 HG02451.hp1 HG02717.hp2 others(5): Show |
intron_variant | MODIFIER | c.3937+534A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 20/22 | chr17 | 30091208 | |||||||
| chr17:30091516 | A | G | 3 | a0007c0009t0002g0102 a0007c0009t0002g0103 a0007c0009t0002g0104 |
3 | HG02922.hp2 HG03195.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.3938-355A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 20/22 | chr17 | 30091516 | |||||||
| chr17:30091679 | C | T | 1 | a0001c0001t0001g0199 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.3938-192C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 20/22 | chr17 | 30091679 | |||||||
| chr17:30091747 | C | A | 67 | a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 others(64): Show |
67 | HG00741.hp1 HG01069.hp2 HG01071.hp2 others(64): Show |
intron_variant | MODIFIER | c.3938-124C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 20/22 | chr17 | 30091747 | |||||||
| chr17:30091750 | T | C | 8 | a0005c0007t0002g0136 a0005c0007t0002g0137 a0005c0007t0002g0138 others(5): Show |
8 | HG02258.hp1 HG02451.hp1 HG02717.hp2 others(5): Show |
intron_variant | MODIFIER | c.3938-121T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 20/22 | chr17 | 30091750 | |||||||
| chr17:30092171 | T | A | 5 | a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 others(2): Show |
5 | HG01952.hp2 HG02273.hp2 HG03017.hp1 others(2): Show |
intron_variant | MODIFIER | c.4224+14T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 21/22 | chr17 | 30092171 | |||||||
| chr17:30092198 | C | T | 1 | a0013c0021t0002g0012 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.4224+41C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 21/22 | chr17 | 30092198 | |||||||
| chr17:30092410 | G | A | 87 | a0001c0001t0001g0010 a0001c0001t0001g0147 a0001c0001t0001g0148 others(84): Show |
87 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(84): Show |
intron_variant | MODIFIER | c.4224+253G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 21/22 | chr17 | 30092410 | |||||||
| chr17:30092545 | G | A | 1 | a0002c0002t0002g0043 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.4225-295G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 21/22 | chr17 | 30092545 | |||||||
| chr17:30092668 | C | T | 37 | a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 others(34): Show |
37 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(34): Show |
intron_variant | MODIFIER | c.4225-172C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 21/22 | chr17 | 30092668 | |||||||
| chr17:30092686 | G | A | 2 | a0003c0003t0002g0213 a0003c0003t0002g0214 |
2 | HG01884.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.4225-154G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 21/22 | chr17 | 30092686 | |||||||
| chr17:30092826 | T | C | 1 | a0001c0001t0001g0109 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.4225-14T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 21/22 | chr17 | 30092826 | |||||||
| chr17:30093569 | T | A | 8 | a0005c0007t0002g0136 a0005c0007t0002g0137 a0005c0007t0002g0138 others(5): Show |
8 | HG02258.hp1 HG02451.hp1 HG02717.hp2 others(5): Show |
intron_variant | MODIFIER | c.4321+633T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30093569 | |||||||
| chr17:30094225 | G | C | 1 | a0002c0002t0002g0048 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.4321+1289G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30094225 | |||||||
| chr17:30094318 | G | A | 1 | a0002c0020t0002g0019 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.4321+1382G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30094318 | |||||||
| chr17:30094364 | T | A | 86 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 others(83): Show |
87 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(84): Show |
intron_variant | MODIFIER | c.4321+1428T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30094364 | |||||||
| chr17:30094451 | G | C | 9 | a0004c0004t0002g0015 a0004c0004t0002g0097 a0004c0004t0002g0098 others(6): Show |
9 | HG02055.hp1 HG02895.hp1 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.4321+1515G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30094451 | |||||||
| chr17:30094507 | C | CA | 39 | a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0151 others(36): Show |
39 | HG00639.hp2 HG01081.hp1 HG01109.hp2 others(36): Show |
intron_variant | MODIFIER | c.4321+1598dupA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30094507 | ||||||
| chr17:30094507 | CA | C | 18 | a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0121 others(15): Show |
18 | HG01070.hp2 HG01243.hp1 HG01256.hp1 others(15): Show |
intron_variant | MODIFIER | c.4321+1598delA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30094507 | ||||||
| chr17:30094507 | CAA | C | 29 | a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 others(26): Show |
29 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(26): Show |
intron_variant | MODIFIER | c.4321+1597_4321+159 others(6): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30094507 | ||||||
| chr17:30094507 | CAAA | C | 25 | a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0115 others(22): Show |
25 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(22): Show |
intron_variant | MODIFIER | c.4321+1596_4321+159 others(7): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30094507 | ||||||
| chr17:30094507 | CAAAAAAA others(3): Show |
C | 1 | a0003c0013t0002g0217 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.4321+1589_4321+159 others(14): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30094507 | ||||||
| chr17:30094519 | A | T | 1 | a0001c0001t0001g0205 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.4321+1583A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30094519 | |||||||
| chr17:30094523 | A | T | 1 | a0002c0002t0002g0085 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.4321+1587A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30094523 | |||||||
| chr17:30094526 | A | T | 1 | a0002c0002t0002g0085 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.4321+1590A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30094526 | |||||||
| chr17:30094534 | A | C | 44 | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 others(41): Show |
44 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(41): Show |
intron_variant | MODIFIER | c.4321+1598A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30094534 | |||||||
| chr17:30094687 | C | G | 22 | a0001c0001t0001g0197 a0002c0017t0002g0035 a0003c0003t0002g0129 others(19): Show |
22 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(19): Show |
intron_variant | MODIFIER | c.4321+1751C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30094687 | |||||||
| chr17:30094938 | T | A | 1 | a0003c0003t0002g0130 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.4321+2002T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30094938 | |||||||
| chr17:30094951 | G | T | 1 | a0003c0013t0002g0217 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.4321+2015G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30094951 | |||||||
| chr17:30094996 | G | C | 1 | a0002c0002t0002g0037 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.4321+2060G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30094996 | |||||||
| chr17:30095274 | G | A | 8 | a0005c0007t0002g0136 a0005c0007t0002g0137 a0005c0007t0002g0138 others(5): Show |
8 | HG02258.hp1 HG02451.hp1 HG02717.hp2 others(5): Show |
intron_variant | MODIFIER | c.4321+2338G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30095274 | |||||||
| chr17:30095295 | G | A | 2 | a0001c0001t0001g0121 a0001c0001t0001g0122 |
2 | HG01243.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.4321+2359G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30095295 | |||||||
| chr17:30095500 | C | T | 36 | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 others(33): Show |
36 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(33): Show |
intron_variant | MODIFIER | c.4321+2564C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30095500 | |||||||
| chr17:30095598 | A | G | 1 | a0001c0001t0001g0186 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.4321+2662A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30095598 | |||||||
| chr17:30096070 | G | A | 86 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 others(83): Show |
87 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(84): Show |
intron_variant | MODIFIER | c.4321+3134G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30096070 | |||||||
| chr17:30096263 | T | A | 1 | a0001c0001t0001g0197 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.4321+3327T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30096263 | |||||||
| chr17:30096412 | A | G | 157 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 others(154): Show |
158 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(155): Show |
intron_variant | MODIFIER | c.4321+3476A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30096412 | |||||||
| chr17:30096530 | G | C | 4 | a0006c0008t0002g0016 a0006c0008t0002g0017 a0006c0008t0002g0018 others(1): Show |
4 | HG02717.hp2 HG02723.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.4321+3594G>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30096530 | |||||||
| chr17:30096652 | C | CAT | 5 | a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0245 others(2): Show |
5 | HG00609.hp1 NA18964.hp1 NA18993.hp1 others(2): Show |
intron_variant | MODIFIER | c.4321+3741_4321+374 others(6): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096652 | ||||||
| chr17:30096652 | C | CATATATA others(3): Show |
1 | a0009c0011t0002g0020 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.4321+3733_4321+374 others(14): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096652 | ||||||
| chr17:30096652 | C | CATATATA others(9): Show |
1 | a0005c0007t0002g0137 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.4321+3727_4321+374 others(20): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096652 | ||||||
| chr17:30096652 | C | CATATATA others(19): Show |
1 | a0005c0007t0002g0138 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.4321+3717_4321+374 others(30): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096652 | ||||||
| chr17:30096652 | CAT | C | 13 | a0001c0001t0001g0150 a0001c0001t0001g0160 a0001c0001t0001g0162 others(10): Show |
13 | HG00733.hp2 HG01261.hp2 HG01516.hp2 others(10): Show |
intron_variant | MODIFIER | c.4321+3741_4321+374 others(6): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096652 | ||||||
| chr17:30096652 | CATAT | C | 3 | a0003c0003t0002g0145 a0003c0006t0002g0004 a0003c0006t0002g0005 |
3 | HG03041.hp2 NA18906.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.4321+3739_4321+374 others(8): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096652 | ||||||
| chr17:30096652 | CATATATA others(1): Show |
C | 9 | a0001c0001t0001g0110 a0001c0001t0001g0119 a0001c0001t0001g0123 others(6): Show |
9 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(6): Show |
intron_variant | MODIFIER | c.4321+3735_4321+374 others(12): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096652 | ||||||
| chr17:30096652 | CATATATA others(3): Show |
C | 1 | a0001c0001t0001g0118 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.4321+3733_4321+374 others(14): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096652 | ||||||
| chr17:30096666 | TATATATA others(4): Show |
T | 1 | a0001c0001t0001g0115 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.4321+3731_4321+374 others(15): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30096666 | |||||||
| chr17:30096672 | TATA | T | 4 | a0002c0017t0002g0035 a0003c0003t0002g0132 a0003c0003t0002g0133 others(1): Show |
4 | HG02572.hp2 HG03098.hp2 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.4321+3737_4321+373 others(7): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30096672 | |||||||
| chr17:30096673 | A | ATT | 3 | a0001c0001t0001g0211 a0001c0001t0001g0247 a0003c0014t0002g0006 |
3 | HG02630.hp2 HG03225.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.4321+3738_4321+373 others(6): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096673 | ||||||
| chr17:30096673 | A | T | 3 | a0001c0001t0001g0107 a0001c0001t0001g0155 a0001c0001t0001g0205 |
3 | HG02622.hp2 NA19043.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.4321+3737A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30096673 | |||||||
| chr17:30096674 | TA | T | 6 | a0001c0001t0001g0154 a0001c0001t0001g0170 a0001c0001t0001g0175 others(3): Show |
6 | HG02717.hp1 HG03017.hp1 HG03195.hp2 others(3): Show |
intron_variant | MODIFIER | c.4321+3739delA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30096674 | |||||||
| chr17:30096674 | TATA | T | 9 | a0001c0001t0001g0197 a0003c0003t0002g0130 a0003c0003t0002g0140 others(6): Show |
9 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(6): Show |
intron_variant | MODIFIER | c.4321+3739_4321+374 others(7): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30096674 | |||||||
| chr17:30096675 | A | AT | 8 | a0001c0001t0001g0010 a0001c0001t0001g0147 a0001c0001t0001g0173 others(5): Show |
8 | HG00609.hp2 HG00639.hp2 HG02074.hp2 others(5): Show |
intron_variant | MODIFIER | c.4321+3740dupT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096675 | ||||||
| chr17:30096675 | A | ATTTTTTT others(3): Show |
2 | a0007c0009t0002g0102 a0007c0009t0002g0103 |
2 | HG03195.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.4321+3740_4321+374 others(14): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096675 | ||||||
| chr17:30096675 | A | T | 14 | a0001c0001t0001g0107 a0001c0001t0001g0153 a0001c0001t0001g0155 others(11): Show |
14 | HG02622.hp2 HG02630.hp2 HG03041.hp1 others(11): Show |
intron_variant | MODIFIER | c.4321+3739A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30096675 | |||||||
| chr17:30096676 | TA | T | 20 | a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0156 others(17): Show |
20 | HG00140.hp2 HG01168.hp1 HG01346.hp1 others(17): Show |
intron_variant | MODIFIER | c.4321+3741delA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30096676 | |||||||
| chr17:30096677 | A | ATATATAT others(9): Show |
1 | a0001c0001t0001g0108 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.4321+3742_4321+374 others(20): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096677 | ||||||
| chr17:30096677 | A | ATATATAT others(13): Show |
1 | a0013c0021t0002g0012 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.4321+3742_4321+374 others(24): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096677 | ||||||
| chr17:30096677 | A | ATATATAT others(3): Show |
1 | a0009c0011t0002g0021 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.4321+3742_4321+374 others(14): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096677 | ||||||
| chr17:30096677 | A | ATATATAT others(5): Show |
1 | a0001c0001t0001g0113 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.4321+3742_4321+374 others(16): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096677 | ||||||
| chr17:30096677 | A | ATATATAT others(6): Show |
1 | a0004c0004t0002g0100 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.4321+3742_4321+374 others(17): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096677 | ||||||
| chr17:30096677 | A | ATATATAT others(4): Show |
3 | a0004c0004t0002g0097 a0004c0004t0002g0098 a0004c0004t0002g0099 |
3 | HG02895.hp1 HG02896.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.4321+3742_4321+374 others(15): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096677 | ||||||
| chr17:30096677 | A | ATATATAT others(7): Show |
1 | a0001c0001t0001g0116 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.4321+3742_4321+374 others(18): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096677 | ||||||
| chr17:30096677 | A | ATATTTTT others(3): Show |
1 | a0004c0004t0002g0101 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.4321+3742_4321+374 others(14): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096677 | ||||||
| chr17:30096677 | A | T | 71 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0107 others(68): Show |
71 | HG00140.hp1 HG00323.hp2 HG00609.hp2 others(68): Show |
intron_variant | MODIFIER | c.4321+3741A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30096677 | |||||||
| chr17:30096677 | AT | A | 11 | a0001c0001t0001g0203 a0001c0001t0001g0208 a0001c0026t0004g0159 others(8): Show |
11 | HG00408.hp1 HG01496.hp2 HG02004.hp2 others(8): Show |
intron_variant | MODIFIER | c.4321+3761delT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096677 | ||||||
| chr17:30096677 | ATTT | A | 55 | a0001c0001t0001g0007 a0001c0001t0001g0158 a0002c0002t0002g0001 others(52): Show |
56 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(53): Show |
intron_variant | MODIFIER | c.4321+3759_4321+376 others(7): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096677 | ||||||
| chr17:30096677 | ATTTT | A | 7 | a0001c0001t0001g0008 a0002c0002t0002g0026 a0002c0002t0002g0043 others(4): Show |
7 | HG01168.hp2 HG01361.hp2 HG02056.hp2 others(4): Show |
intron_variant | MODIFIER | c.4321+3758_4321+376 others(8): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096677 | ||||||
| chr17:30096678 | T | TA | 6 | a0001c0001t0001g0225 a0002c0002t0002g0002 a0002c0002t0002g0033 others(3): Show |
6 | HG01123.hp2 HG01261.hp1 HG01978.hp2 others(3): Show |
intron_variant | MODIFIER | c.4321+3742_4321+374 others(5): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30096678 | |||||||
| chr17:30096678 | T | TATATATA others(8): Show |
1 | a0005c0007t0002g0136 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.4321+3742_4321+374 others(19): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30096678 | |||||||
| chr17:30096679 | T | A | 6 | a0001c0001t0001g0168 a0001c0001t0001g0235 a0001c0001t0001g0238 others(3): Show |
6 | HG00609.hp1 HG02258.hp1 HG02683.hp1 others(3): Show |
intron_variant | MODIFIER | c.4321+3743T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30096679 | |||||||
| chr17:30096680 | T | A | 16 | a0001c0001t0001g0203 a0001c0001t0001g0208 a0001c0026t0004g0159 others(13): Show |
16 | HG00408.hp1 HG01123.hp2 HG01261.hp1 others(13): Show |
intron_variant | MODIFIER | c.4321+3744T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30096680 | |||||||
| chr17:30096681 | T | A | 5 | a0001c0001t0001g0011 a0002c0002t0002g0053 a0002c0002t0002g0062 others(2): Show |
5 | HG00609.hp1 HG00621.hp2 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.4321+3745T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30096681 | |||||||
| chr17:30096682 | T | A | 60 | a0001c0001t0001g0007 a0001c0001t0001g0158 a0001c0001t0001g0203 others(57): Show |
61 | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(58): Show |
intron_variant | MODIFIER | c.4321+3746T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30096682 | |||||||
| chr17:30096683 | T | A | 11 | a0001c0001t0001g0008 a0001c0001t0001g0011 a0002c0002t0002g0026 others(8): Show |
11 | HG00609.hp1 HG00621.hp2 HG01168.hp2 others(8): Show |
intron_variant | MODIFIER | c.4321+3747T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30096683 | |||||||
| chr17:30096684 | T | A | 3 | a0002c0002t0002g0085 a0002c0002t0002g0091 a0002c0002t0002g0096 |
3 | HG03490.hp2 HG04199.hp2 NA19000.hp1 |
intron_variant | MODIFIER | c.4321+3748T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30096684 | |||||||
| chr17:30096685 | T | A | 3 | a0002c0002t0002g0053 a0002c0002t0002g0055 a0002c0002t0002g0062 |
3 | HG00609.hp1 NA18971.hp2 NA18993.hp2 |
intron_variant | MODIFIER | c.4321+3749T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30096685 | |||||||
| chr17:30096866 | G | A | 17 | a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 others(14): Show |
17 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(14): Show |
intron_variant | MODIFIER | c.4321+3930G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30096866 | |||||||
| chr17:30096983 | T | TATATAC | 8 | a0001c0001t0001g0009 a0001c0001t0001g0154 a0001c0001t0001g0175 others(5): Show |
8 | HG00733.hp2 HG01256.hp2 HG02273.hp1 others(5): Show |
intron_variant | MODIFIER | c.4321+4113_4321+411 others(10): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096983 | ||||||
| chr17:30096983 | T | TATATACA others(5): Show |
1 | a0001c0001t0001g0243 | 1 | NA18963.hp1 | intron_variant | MODIFIER | c.4321+4107_4321+411 others(16): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096983 | ||||||
| chr17:30096983 | T | TATATACA others(5): Show |
1 | a0002c0002t0002g0051 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.4321+4055_4321+405 others(16): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096983 | ||||||
| chr17:30096983 | TATATAC | T | 36 | a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0151 others(33): Show |
36 | HG00280.hp2 HG00323.hp2 HG01070.hp1 others(33): Show |
intron_variant | MODIFIER | c.4321+4113_4321+411 others(10): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096983 | ||||||
| chr17:30096983 | TATATACA others(5): Show |
T | 25 | a0001c0001t0001g0010 a0001c0001t0001g0150 a0001c0001t0001g0162 others(22): Show |
25 | HG00609.hp2 HG00639.hp2 HG01168.hp1 others(22): Show |
intron_variant | MODIFIER | c.4321+4107_4321+411 others(16): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096983 | ||||||
| chr17:30096983 | TATATACA others(11): Show |
T | 3 | a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 |
3 | HG00099.hp1 HG01123.hp1 HG01496.hp1 |
intron_variant | MODIFIER | c.4321+4101_4321+411 others(22): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096983 | ||||||
| chr17:30096983 | TATATACA others(17): Show |
T | 1 | a0001c0001t0001g0218 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.4321+4095_4321+411 others(28): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30096983 | ||||||
| chr17:30097014 | A | ATATACAT others(17): Show |
2 | a0005c0007t0002g0136 a0005c0007t0002g0137 |
2 | HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.4321+4101_4321+410 others(28): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30097014 | ||||||
| chr17:30097014 | A | ATATACAT others(11): Show |
1 | a0005c0007t0002g0138 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.4321+4095_4321+409 others(22): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30097014 | ||||||
| chr17:30097030 | ACATATAC others(24): Show |
A | 2 | a0001c0001t0001g0115 a0001c0001t0001g0122 |
2 | HG02559.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.4321+4095_4321+412 others(35): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30097030 | |||||||
| chr17:30097031 | C | T | 8 | a0001c0001t0001g0197 a0002c0020t0002g0019 a0003c0003t0002g0140 others(5): Show |
8 | HG01243.hp2 HG01516.hp1 HG01517.hp2 others(5): Show |
intron_variant | MODIFIER | c.4321+4095C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30097031 | |||||||
| chr17:30097033 | TATACATA others(9): Show |
T | 2 | a0001c0001t0001g0192 a0003c0003t0002g0135 |
2 | HG03017.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.4321+4101_4321+411 others(20): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30097033 | ||||||
| chr17:30097036 | ACATATAC others(18): Show |
A | 15 | a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0117 others(12): Show |
15 | HG01243.hp1 HG01243.hp2 HG01346.hp2 others(12): Show |
intron_variant | MODIFIER | c.4321+4101_4321+412 others(29): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30097036 | |||||||
| chr17:30097037 | C | T | 5 | a0002c0005t0002g0025 a0002c0017t0002g0035 a0003c0003t0002g0144 others(2): Show |
5 | HG00741.hp1 HG02132.hp1 HG02895.hp2 others(2): Show |
intron_variant | MODIFIER | c.4321+4101C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30097037 | |||||||
| chr17:30097037 | CATATACA others(7): Show |
C | 1 | a0002c0002t0002g0077 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.4321+4107_4321+412 others(18): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30097037 | ||||||
| chr17:30097039 | TATACATA others(3): Show |
T | 3 | a0001c0001t0001g0158 a0001c0001t0001g0171 a0002c0002t0002g0033 |
3 | HG01261.hp1 HG03834.hp2 NA19064.hp2 |
intron_variant | MODIFIER | c.4321+4107_4321+411 others(14): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30097039 | ||||||
| chr17:30097042 | ACATATAC others(12): Show |
A | 14 | a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0118 others(11): Show |
14 | HG00741.hp1 HG01069.hp2 HG01071.hp2 others(11): Show |
intron_variant | MODIFIER | c.4321+4107_4321+412 others(23): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30097042 | |||||||
| chr17:30097043 | C | T | 16 | a0001c0026t0004g0159 a0002c0002t0002g0001 a0002c0002t0002g0032 others(13): Show |
17 | HG00408.hp1 HG00639.hp1 HG00733.hp1 others(14): Show |
intron_variant | MODIFIER | c.4321+4107C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30097043 | |||||||
| chr17:30097048 | ACATATAT others(6): Show |
A | 25 | a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0123 others(22): Show |
26 | HG00408.hp1 HG00639.hp1 HG00733.hp1 others(23): Show |
intron_variant | MODIFIER | c.4321+4113_4321+412 others(17): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30097048 | |||||||
| chr17:30097049 | C | T | 22 | a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0208 others(19): Show |
22 | HG00621.hp2 HG00642.hp2 HG00741.hp2 others(19): Show |
intron_variant | MODIFIER | c.4321+4113C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30097049 | |||||||
| chr17:30097051 | T | TATACATA others(3): Show |
8 | a0002c0002t0002g0042 a0002c0002t0002g0049 a0002c0002t0002g0065 others(5): Show |
8 | HG00408.hp2 HG00621.hp1 HG01069.hp1 others(5): Show |
intron_variant | MODIFIER | c.4321+4118_4321+411 others(14): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30097051 | ||||||
| chr17:30097051 | T | TATACATA others(9): Show |
1 | a0002c0002t0002g0031 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.4321+4118_4321+411 others(20): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30097051 | ||||||
| chr17:30097051 | T | TATACGTA others(33): Show |
1 | a0013c0021t0002g0012 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.4321+4118_4321+411 others(44): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30097051 | ||||||
| chr17:30097054 | ATATATAT | A | 21 | a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0208 others(18): Show |
21 | HG00621.hp2 HG00642.hp2 HG00741.hp2 others(18): Show |
intron_variant | MODIFIER | c.4321+4120_4321+412 others(11): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30097054 | ||||||
| chr17:30097055 | T | C | 15 | a0001c0001t0001g0008 a0002c0002t0002g0022 a0002c0002t0002g0054 others(12): Show |
15 | HG01433.hp2 HG01993.hp1 HG02683.hp2 others(12): Show |
intron_variant | MODIFIER | c.4321+4119T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30097055 | |||||||
| chr17:30097056 | ATATATTT | A | 6 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0119 others(3): Show |
6 | HG02055.hp1 HG02257.hp1 HG02486.hp2 others(3): Show |
intron_variant | MODIFIER | c.4321+4122_4321+412 others(11): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30097056 | ||||||
| chr17:30097060 | A | T | 2 | a0001c0001t0001g0207 a0001c0001t0001g0222 |
2 | HG00323.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.4321+4124A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30097060 | |||||||
| chr17:30097060 | AT | A | 40 | a0001c0001t0001g0152 a0001c0001t0001g0171 a0001c0001t0001g0192 others(37): Show |
40 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(37): Show |
intron_variant | MODIFIER | c.4321+4137delT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30097060 | ||||||
| chr17:30097061 | T | A | 1 | a0004c0004t0002g0099 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.4321+4125T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30097061 | |||||||
| chr17:30097061 | T | TA | 12 | a0001c0001t0001g0107 a0002c0002t0002g0031 a0002c0002t0002g0042 others(9): Show |
12 | HG00408.hp2 HG00621.hp1 HG01069.hp1 others(9): Show |
intron_variant | MODIFIER | c.4321+4125_4321+412 others(5): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30097061 | |||||||
| chr17:30097061 | T | TATATA | 11 | a0001c0001t0001g0008 a0002c0002t0002g0054 a0002c0002t0002g0055 others(8): Show |
11 | HG01433.hp2 HG02683.hp2 HG03834.hp1 others(8): Show |
intron_variant | MODIFIER | c.4321+4125_4321+412 others(9): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30097061 | |||||||
| chr17:30097062 | T | A | 12 | a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0177 others(9): Show |
12 | HG00280.hp2 HG01070.hp2 HG01168.hp2 others(9): Show |
intron_variant | MODIFIER | c.4321+4126T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30097062 | |||||||
| chr17:30097063 | T | A | 34 | a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 others(31): Show |
34 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(31): Show |
intron_variant | MODIFIER | c.4321+4127T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30097063 | |||||||
| chr17:30097073 | T | C | 1 | a0002c0002t0002g0013 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.4321+4137T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30097073 | |||||||
| chr17:30097134 | G | T | 4 | a0006c0008t0002g0016 a0006c0008t0002g0017 a0006c0008t0002g0018 others(1): Show |
4 | HG02717.hp2 HG02723.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.4321+4198G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30097134 | |||||||
| chr17:30097307 | G | A | 4 | a0005c0007t0002g0136 a0005c0007t0002g0137 a0005c0007t0002g0138 others(1): Show |
4 | HG02258.hp1 HG02451.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.4321+4371G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30097307 | |||||||
| chr17:30097623 | C | G | 2 | a0001c0001t0001g0108 a0001c0001t0001g0113 |
2 | HG03139.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.4321+4687C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30097623 | |||||||
| chr17:30097670 | C | T | 1 | a0002c0002t0002g0029 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.4321+4734C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30097670 | |||||||
| chr17:30097689 | C | T | 6 | a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0122 others(3): Show |
6 | HG01243.hp1 HG01884.hp2 HG02258.hp2 others(3): Show |
intron_variant | MODIFIER | c.4321+4753C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30097689 | |||||||
| chr17:30097979 | G | A | 1 | a0002c0002t0002g0096 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.4321+5043G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30097979 | |||||||
| chr17:30098300 | T | A | 12 | a0001c0001t0001g0197 a0002c0017t0002g0035 a0003c0003t0002g0132 others(9): Show |
12 | HG00741.hp1 HG01243.hp2 HG01516.hp1 others(9): Show |
intron_variant | MODIFIER | c.4321+5364T>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30098300 | |||||||
| chr17:30098536 | G | GA | 23 | a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 others(20): Show |
23 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.4321+5615dupA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30098536 | ||||||
| chr17:30098552 | C | A | 4 | a0006c0008t0002g0016 a0006c0008t0002g0017 a0006c0008t0002g0018 others(1): Show |
4 | HG02717.hp2 HG02723.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.4321+5616C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30098552 | |||||||
| chr17:30098613 | C | T | 4 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(1): Show |
4 | HG01433.hp1 HG02486.hp1 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.4321+5677C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30098613 | |||||||
| chr17:30098851 | T | G | 1 | a0001c0001t0001g0112 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.4321+5915T>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30098851 | |||||||
| chr17:30098974 | G | A | 3 | a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0180 |
3 | HG03195.hp2 HG03471.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.4321+6038G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30098974 | |||||||
| chr17:30099007 | A | C | 3 | a0003c0006t0002g0003 a0003c0006t0002g0004 a0003c0006t0002g0005 |
3 | HG02895.hp2 NA18906.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.4321+6071A>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30099007 | |||||||
| chr17:30099250 | C | G | 1 | a0002c0002t0002g0069 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.4321+6314C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30099250 | |||||||
| chr17:30099382 | G | A | 3 | a0006c0008t0002g0016 a0006c0008t0002g0017 a0006c0008t0002g0018 |
3 | HG02723.hp2 HG03225.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.4321+6446G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30099382 | |||||||
| chr17:30099428 | T | TA | 79 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 others(76): Show |
80 | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(77): Show |
intron_variant | MODIFIER | c.4321+6503dupA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30099428 | ||||||
| chr17:30099428 | T | TAA | 8 | a0002c0002t0002g0002 a0002c0002t0002g0057 a0002c0002t0002g0080 others(5): Show |
8 | HG00642.hp2 HG01099.hp1 HG01123.hp2 others(5): Show |
intron_variant | MODIFIER | c.4321+6502_4321+650 others(6): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30099428 | ||||||
| chr17:30099471 | C | G | 19 | a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0116 others(16): Show |
19 | HG01243.hp1 HG01884.hp2 HG01891.hp1 others(16): Show |
intron_variant | MODIFIER | c.4321+6535C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30099471 | |||||||
| chr17:30099598 | C | T | 19 | a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0116 others(16): Show |
19 | HG01243.hp1 HG01884.hp2 HG01891.hp1 others(16): Show |
intron_variant | MODIFIER | c.4321+6662C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30099598 | |||||||
| chr17:30099756 | C | A | 1 | a0003c0013t0002g0217 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.4321+6820C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30099756 | |||||||
| chr17:30099907 | T | C | 1 | a0003c0013t0002g0217 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.4321+6971T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30099907 | |||||||
| chr17:30099985 | A | T | 20 | a0001c0001t0001g0197 a0002c0017t0002g0035 a0003c0003t0002g0129 others(17): Show |
20 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(17): Show |
intron_variant | MODIFIER | c.4321+7049A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30099985 | |||||||
| chr17:30099998 | A | G | 86 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 others(83): Show |
87 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(84): Show |
intron_variant | MODIFIER | c.4321+7062A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30099998 | |||||||
| chr17:30100137 | G | A | 1 | a0002c0002t0002g0070 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.4321+7201G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30100137 | |||||||
| chr17:30100765 | C | CA | 90 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 others(87): Show |
91 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(88): Show |
intron_variant | MODIFIER | c.4322-7058dupA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30100765 | ||||||
| chr17:30100880 | A | G | 90 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 others(87): Show |
91 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(88): Show |
intron_variant | MODIFIER | c.4322-6954A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30100880 | |||||||
| chr17:30100903 | A | T | 1 | a0003c0003t0002g0143 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.4322-6931A>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30100903 | |||||||
| chr17:30100989 | G | T | 1 | a0001c0001t0001g0202 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.4322-6845G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30100989 | |||||||
| chr17:30100995 | G | A | 1 | a0003c0014t0002g0006 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.4322-6839G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30100995 | |||||||
| chr17:30101187 | C | G | 20 | a0001c0001t0001g0197 a0002c0017t0002g0035 a0003c0003t0002g0129 others(17): Show |
20 | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(17): Show |
intron_variant | MODIFIER | c.4322-6647C>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30101187 | |||||||
| chr17:30101326 | T | C | 1 | a0002c0002t0002g0091 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.4322-6508T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30101326 | |||||||
| chr17:30101583 | C | T | 1 | a0011c0025t0001g0181 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.4322-6251C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30101583 | |||||||
| chr17:30101683 | C | T | 4 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(1): Show |
4 | HG01433.hp1 HG02486.hp1 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.4322-6151C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30101683 | |||||||
| chr17:30101805 | G | A | 2 | a0001c0001t0001g0111 a0001c0001t0001g0112 |
2 | HG02257.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.4322-6029G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30101805 | |||||||
| chr17:30102087 | CATGGGTG others(52): Show |
C | 1 | a0001c0001t0001g0183 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.4322-5708_4322-565 others(63): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30102087 | ||||||
| chr17:30102091 | G | A | 1 | a0002c0002t0002g0069 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.4322-5743G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30102091 | |||||||
| chr17:30102219 | A | G | 3 | a0003c0006t0002g0003 a0003c0006t0002g0004 a0003c0006t0002g0005 |
3 | HG02895.hp2 NA18906.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.4322-5615A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30102219 | |||||||
| chr17:30102455 | C | T | 2 | a0001c0001t0001g0108 a0001c0001t0001g0113 |
2 | HG03139.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.4322-5379C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30102455 | |||||||
| chr17:30102557 | T | C | 90 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 others(87): Show |
91 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(88): Show |
intron_variant | MODIFIER | c.4322-5277T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30102557 | |||||||
| chr17:30102825 | CT | C | 19 | a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0116 others(16): Show |
19 | HG01243.hp1 HG01884.hp2 HG01891.hp1 others(16): Show |
intron_variant | MODIFIER | c.4322-5002delT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30102825 | ||||||
| chr17:30102924 | C | T | 4 | a0006c0008t0002g0016 a0006c0008t0002g0017 a0006c0008t0002g0018 others(1): Show |
4 | HG02717.hp2 HG02723.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.4322-4910C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30102924 | |||||||
| chr17:30103005 | A | AT | 9 | a0004c0004t0002g0015 a0004c0004t0002g0097 a0004c0004t0002g0098 others(6): Show |
9 | HG02055.hp1 HG02895.hp1 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.4322-4824dupT | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30103005 | ||||||
| chr17:30103229 | AAT | A | 3 | a0003c0003t0002g0134 a0003c0003t0002g0215 a0003c0003t0002g0216 |
3 | HG02965.hp2 HG03098.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.4322-4592_4322-459 others(6): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30103229 | ||||||
| chr17:30103285 | C | A | 90 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 others(87): Show |
91 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(88): Show |
intron_variant | MODIFIER | c.4322-4549C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30103285 | |||||||
| chr17:30103738 | G | T | 3 | a0005c0007t0002g0136 a0005c0007t0002g0137 a0005c0007t0002g0138 |
3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.4322-4096G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30103738 | |||||||
| chr17:30103878 | G | A | 26 | a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0113 others(23): Show |
26 | HG01243.hp1 HG01884.hp2 HG01891.hp1 others(23): Show |
intron_variant | MODIFIER | c.4322-3956G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30103878 | |||||||
| chr17:30103941 | G | T | 1 | a0002c0020t0002g0019 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.4322-3893G>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30103941 | |||||||
| chr17:30104066 | C | T | 3 | a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 |
3 | HG02523.hp2 HG02683.hp1 NA18955.hp1 |
intron_variant | MODIFIER | c.4322-3768C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30104066 | |||||||
| chr17:30104144 | A | G | 1 | a0001c0001t0001g0110 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.4322-3690A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30104144 | |||||||
| chr17:30104180 | T | C | 153 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 others(150): Show |
154 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(151): Show |
intron_variant | MODIFIER | c.4322-3654T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30104180 | |||||||
| chr17:30104551 | CA | C | 154 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 others(151): Show |
155 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(152): Show |
intron_variant | MODIFIER | c.4322-3272delA | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30104551 | ||||||
| chr17:30104770 | A | G | 1 | a0001c0001t0001g0112 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.4322-3064A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30104770 | |||||||
| chr17:30105076 | C | T | 3 | a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 |
3 | HG00408.hp2 HG01256.hp1 HG03834.hp1 |
intron_variant | MODIFIER | c.4322-2758C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30105076 | |||||||
| chr17:30105128 | T | C | 1 | a0001c0001t0001g0158 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.4322-2706T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30105128 | |||||||
| chr17:30105597 | C | T | 1 | a0001c0001t0001g0192 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.4322-2237C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30105597 | |||||||
| chr17:30106257 | A | G | 110 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 others(107): Show |
111 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(108): Show |
intron_variant | MODIFIER | c.4322-1577A>G | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30106257 | |||||||
| chr17:30106560 | G | A | 1 | a0002c0002t0002g0022 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.4322-1274G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30106560 | |||||||
| chr17:30106674 | C | CTT | 3 | a0003c0006t0002g0003 a0003c0006t0002g0004 a0003c0006t0002g0005 |
3 | HG02895.hp2 NA18906.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.4322-1159_4322-115 others(6): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30106674 | ||||||
| chr17:30106746 | T | C | 156 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 others(153): Show |
157 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(154): Show |
intron_variant | MODIFIER | c.4322-1088T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30106746 | |||||||
| chr17:30107396 | T | C | 4 | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(1): Show |
4 | HG01433.hp1 HG02486.hp1 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.4322-438T>C | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30107396 | |||||||
| chr17:30107514 | C | A | 1 | a0003c0014t0002g0006 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.4322-320C>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30107514 | |||||||
| chr17:30107690 | G | A | 3 | a0005c0007t0002g0136 a0005c0007t0002g0137 a0005c0007t0002g0138 |
3 | HG02258.hp1 HG02451.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.4322-144G>A | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30107690 | |||||||
| chr17:30107798 | C | T | 2 | a0001c0001t0001g0185 a0001c0001t0001g0186 |
2 | NA18986.hp2 NA19007.hp1 |
intron_variant | MODIFIER | c.4322-36C>T | EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | 30107798 | |||||||
| chr17:30107808 | ACTTTT | A | 157 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 others(154): Show |
158 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(155): Show |
intron_variant | MODIFIER | c.4322-20_4322-16del others(5): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | 30107808 |