Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 284697 |
| ensemblid | ENSG00000189195.15 |
| hgncid | 21019 |
| symbol | BTBD8 |
| name | BTB domain containing 8 |
| refseq_nuc | NM_001376131.1 |
| refseq_prot | NP_001363060.1 |
| ensembl_nuc | ENST00000636805.2 |
| ensembl_prot | ENSP00000490161.1 |
| mane_status | MANE Select |
| chr | chr1 |
| start | 92080345 |
| end | 92184723 |
| strand | + |
| ver | v1.2 |
| region | chr1:92080345-92184723 |
| region5000 | chr1:92075345-92189723 |
| regionname0 | BTBD8_chr1_92080345_92184723 |
| regionname5000 | BTBD8_chr1_92075345_92189723 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/0 | 1792 | 96 | 43 | 16 | 19 | 4 | 14 | 12 | BTBD8_chr1_92075345_92189723 | BTBD8 | MARCG others(1787): Show |
chr1 | 92075345 | 92189723 |
| a0002 | 1/0 | 1792 | 31 | 1 | 11 | 8 | 3 | 7 | 4 | BTBD8_chr1_92075345_92189723 | BTBD8 | MARCG others(1787): Show |
chr1 | 92075345 | 92189723 |
| a0003 | 0/0 | 1792 | 13 | 12 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | MARCG others(1787): Show |
chr1 | 92075345 | 92189723 |
| a0004 | 0/0 | 1792 | 4 | 1 | 2 | 0 | 0 | 1 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | MARCG others(1787): Show |
chr1 | 92075345 | 92189723 |
| a0005 | 0/0 | 1792 | 4 | 4 | 0 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | MARCG others(1787): Show |
chr1 | 92075345 | 92189723 |
| a0006 | 0/0 | 1792 | 2 | 0 | 0 | 1 | 1 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | MARCG others(1787): Show |
chr1 | 92075345 | 92189723 |
| a0007 | 0/0 | 1792 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | MARCG others(1787): Show |
chr1 | 92075345 | 92189723 |
| a0008 | 0/0 | 1792 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | MARCG others(1787): Show |
chr1 | 92075345 | 92189723 |
| a0009 | 0/0 | 1792 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | MARCG others(1787): Show |
chr1 | 92075345 | 92189723 |
| a0010 | 0/0 | 1792 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | MARCG others(1787): Show |
chr1 | 92075345 | 92189723 |
| a0011 | 0/0 | 1792 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | MARCG others(1787): Show |
chr1 | 92075345 | 92189723 |
| a0012 | 0/1 | 1792 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | MARCG others(1787): Show |
chr1 | 92075345 | 92189723 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 5376 | 75 | 23 | 15 | 19 | 4 | 14 | BTBD8_chr1_92075345_92189723 | BTBD8 | ATGGC others(5371): Show |
chr1 | 92075345 | 92189723 | ||
| a0001c0003 | 0/0 | 5376 | 19 | 18 | 1 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | ATGGC others(5371): Show |
chr1 | 92075345 | 92189723 | ||
| a0001c0009 | 0/0 | 5376 | 2 | 2 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | ATGGC others(5371): Show |
chr1 | 92075345 | 92189723 | ||
| a0002c0002 | 1/0 | 5376 | 31 | 1 | 11 | 8 | 3 | 7 | BTBD8_chr1_92075345_92189723 | BTBD8 | ATGGC others(5371): Show |
chr1 | 92075345 | 92189723 | ||
| a0003c0004 | 0/0 | 5376 | 8 | 7 | 1 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | ATGGC others(5371): Show |
chr1 | 92075345 | 92189723 | ||
| a0003c0005 | 0/0 | 5376 | 5 | 5 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | ATGGC others(5371): Show |
chr1 | 92075345 | 92189723 | ||
| a0004c0007 | 0/0 | 5376 | 4 | 1 | 2 | 0 | 0 | 1 | BTBD8_chr1_92075345_92189723 | BTBD8 | ATGGC others(5371): Show |
chr1 | 92075345 | 92189723 | ||
| a0005c0006 | 0/0 | 5376 | 4 | 4 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | ATGGC others(5371): Show |
chr1 | 92075345 | 92189723 | ||
| a0006c0011 | 0/0 | 5376 | 2 | 0 | 0 | 1 | 1 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | ATGGC others(5371): Show |
chr1 | 92075345 | 92189723 | ||
| a0007c0008 | 0/0 | 5376 | 2 | 2 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | ATGGC others(5371): Show |
chr1 | 92075345 | 92189723 | ||
| a0008c0010 | 0/0 | 5376 | 2 | 2 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | ATGGC others(5371): Show |
chr1 | 92075345 | 92189723 | ||
| a0009c0015 | 0/0 | 5376 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | ATGGC others(5371): Show |
chr1 | 92075345 | 92189723 | ||
| a0010c0012 | 0/0 | 5376 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | ATGGC others(5371): Show |
chr1 | 92075345 | 92189723 | ||
| a0011c0014 | 0/0 | 5376 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | ATGGC others(5371): Show |
chr1 | 92075345 | 92189723 | ||
| a0012c0013 | 0/1 | 5376 | 1 | 0 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | ATGGC others(5371): Show |
chr1 | 92075345 | 92189723 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 5999 | 73 | 21 | 15 | 19 | 4 | 14 | BTBD8_chr1_92075345_92189723 | BTBD8 | CTTCC others(5994): Show |
chr1 | 92075345 | 92189723 |
| a0001c0001t0002 | 0/0 | 5999 | 2 | 2 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | CTTCC others(5994): Show |
chr1 | 92075345 | 92189723 |
| a0001c0003t0001 | 0/0 | 5999 | 11 | 10 | 1 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | CTTCC others(5994): Show |
chr1 | 92075345 | 92189723 |
| a0001c0003t0002 | 0/0 | 5999 | 2 | 2 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | CTTCC others(5994): Show |
chr1 | 92075345 | 92189723 |
| a0001c0003t0003 | 0/0 | 5999 | 2 | 2 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | CTTCC others(5994): Show |
chr1 | 92075345 | 92189723 |
| a0001c0003t0004 | 0/0 | 5999 | 4 | 4 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | CTTCC others(5994): Show |
chr1 | 92075345 | 92189723 |
| a0001c0009t0001 | 0/0 | 5999 | 2 | 2 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | CTTCC others(5994): Show |
chr1 | 92075345 | 92189723 |
| a0002c0002t0001 | 1/0 | 5999 | 30 | 1 | 10 | 8 | 3 | 7 | BTBD8_chr1_92075345_92189723 | BTBD8 | CTTCC others(5994): Show |
chr1 | 92075345 | 92189723 |
| a0002c0002t0005 | 0/0 | 5999 | 1 | 0 | 1 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | CTTCC others(5994): Show |
chr1 | 92075345 | 92189723 |
| a0003c0004t0001 | 0/0 | 5999 | 1 | 0 | 1 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | CTTCC others(5994): Show |
chr1 | 92075345 | 92189723 |
| a0003c0004t0002 | 0/0 | 5999 | 7 | 7 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | CTTCC others(5994): Show |
chr1 | 92075345 | 92189723 |
| a0003c0005t0001 | 0/0 | 5999 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | CTTCC others(5994): Show |
chr1 | 92075345 | 92189723 |
| a0003c0005t0003 | 0/0 | 5999 | 4 | 4 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | CTTCC others(5994): Show |
chr1 | 92075345 | 92189723 |
| a0004c0007t0001 | 0/0 | 5999 | 4 | 1 | 2 | 0 | 0 | 1 | BTBD8_chr1_92075345_92189723 | BTBD8 | CTTCC others(5994): Show |
chr1 | 92075345 | 92189723 |
| a0005c0006t0001 | 0/0 | 5999 | 4 | 4 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | CTTCC others(5994): Show |
chr1 | 92075345 | 92189723 |
| a0006c0011t0001 | 0/0 | 5999 | 2 | 0 | 0 | 1 | 1 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | CTTCC others(5994): Show |
chr1 | 92075345 | 92189723 |
| a0007c0008t0001 | 0/0 | 5999 | 2 | 2 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | CTTCC others(5994): Show |
chr1 | 92075345 | 92189723 |
| a0008c0010t0001 | 0/0 | 5999 | 2 | 2 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | CTTCC others(5994): Show |
chr1 | 92075345 | 92189723 |
| a0009c0015t0001 | 0/0 | 5999 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | CTTCC others(5994): Show |
chr1 | 92075345 | 92189723 |
| a0010c0012t0001 | 0/0 | 5999 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | CTTCC others(5994): Show |
chr1 | 92075345 | 92189723 |
| a0011c0014t0001 | 0/0 | 5999 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | CTTCC others(5994): Show |
chr1 | 92075345 | 92189723 |
| a0012c0013t0001 | 0/1 | 5999 | 1 | 0 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | CTTCC others(5994): Show |
chr1 | 92075345 | 92189723 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0002 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0003 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0004 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0006 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0046 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0048 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0050 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0059 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0060 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0061 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0063 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0067 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0072 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0074 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0078 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0079 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0080 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0081 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0083 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0084 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0086 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0087 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0088 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0092 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0093 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0099 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0100 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0103 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0145 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0146 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0001g0147 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0002g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0001t0002g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0003t0001g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0003t0001g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0003t0001g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0003t0001g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0003t0001g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0003t0001g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0003t0001g0043 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0003t0001g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0003t0001g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0003t0001g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0003t0001g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0003t0002g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0003t0002g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0003t0003g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0003t0003g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0003t0004g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0003t0004g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0003t0004g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0003t0004g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0009t0001g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0001c0009t0001g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0002c0002t0001g0035 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0002c0002t0001g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0002c0002t0001g0045 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0002c0002t0001g0114 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0002c0002t0001g0115 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0002c0002t0001g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0002c0002t0001g0117 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0002c0002t0001g0118 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0002c0002t0001g0119 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0002c0002t0001g0120 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0002c0002t0001g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0002c0002t0001g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0002c0002t0001g0123 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0002c0002t0001g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0002c0002t0001g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0002c0002t0001g0126 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0002c0002t0001g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0002c0002t0001g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0002c0002t0001g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0002c0002t0001g0130 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0002c0002t0001g0131 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0002c0002t0001g0132 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0002c0002t0001g0134 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0002c0002t0001g0135 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0002c0002t0001g0136 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0002c0002t0001g0137 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0002c0002t0001g0139 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0002c0002t0001g0140 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0002c0002t0001g0141 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0002c0002t0001g0149 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0002c0002t0005g0148 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0003c0004t0001g0026 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0003c0004t0002g0001 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0003c0004t0002g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0003c0004t0002g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0003c0004t0002g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0003c0004t0002g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0003c0004t0002g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0003c0005t0001g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0003c0005t0003g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0003c0005t0003g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0003c0005t0003g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0003c0005t0003g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0004c0007t0001g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0004c0007t0001g0151 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0004c0007t0001g0153 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0004c0007t0001g0154 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0005c0006t0001g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0005c0006t0001g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0005c0006t0001g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0005c0006t0001g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0006c0011t0001g0138 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0006c0011t0001g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0007c0008t0001g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0007c0008t0001g0144 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0008c0010t0001g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0008c0010t0001g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0009c0015t0001g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0010c0012t0001g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0011c0014t0001g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| a0012c0013t0001g0152 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0001 | t0001 | g0083 | EUR | GBR | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG00099 | hp2 | a0002 | c0002 | t0001 | g0149 | EUR | GBR | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG00140 | hp1 | a0006 | c0011 | t0001 | g0138 | EUR | GBR | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG00140 | hp2 | a0001 | c0001 | t0001 | g0146 | EUR | GBR | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG00280 | hp1 | a0001 | c0001 | t0001 | g0059 | EUR | FIN | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG00280 | hp2 | a0002 | c0002 | t0001 | g0135 | EUR | FIN | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG00408 | hp1 | a0002 | c0002 | t0001 | g0122 | EAS | CHS | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG00408 | hp2 | a0001 | c0001 | t0001 | g0051 | EAS | CHS | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG00423 | hp1 | a0001 | c0001 | t0001 | g0064 | EAS | CHS | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG00423 | hp2 | a0006 | c0011 | t0001 | g0142 | EAS | CHS | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG00438 | hp1 | a0001 | c0001 | t0001 | g0094 | EAS | CHS | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG00438 | hp2 | a0002 | c0002 | t0001 | g0121 | EAS | CHS | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG01069 | hp1 | a0002 | c0002 | t0001 | g0140 | AMR | PUR | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG01069 | hp2 | a0001 | c0001 | t0001 | g0006 | AMR | PUR | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG01070 | hp1 | a0001 | c0001 | t0001 | g0046 | AMR | PUR | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG01070 | hp2 | a0002 | c0002 | t0001 | g0119 | AMR | PUR | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG01081 | hp1 | a0001 | c0001 | t0001 | g0088 | AMR | PUR | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG01081 | hp2 | a0001 | c0003 | t0001 | g0043 | AMR | PUR | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG01106 | hp1 | a0001 | c0001 | t0001 | g0060 | AMR | PUR | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG01106 | hp2 | a0002 | c0002 | t0005 | g0148 | AMR | PUR | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG01109 | hp1 | a0003 | c0004 | t0001 | g0026 | AMR | PUR | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG01109 | hp2 | a0002 | c0002 | t0001 | g0115 | AMR | PUR | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG01168 | hp1 | a0002 | c0002 | t0001 | g0117 | AMR | PUR | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG01168 | hp2 | a0001 | c0001 | t0001 | g0055 | AMR | PUR | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG01169 | hp1 | a0001 | c0001 | t0001 | g0048 | AMR | PUR | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG01169 | hp2 | a0002 | c0002 | t0001 | g0130 | AMR | PUR | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG01175 | hp1 | a0004 | c0007 | t0001 | g0154 | AMR | PUR | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG01175 | hp2 | a0001 | c0001 | t0001 | g0062 | AMR | PUR | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG01192 | hp1 | a0002 | c0002 | t0001 | g0139 | AMR | PUR | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG01192 | hp2 | a0001 | c0001 | t0001 | g0086 | AMR | PUR | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG01256 | hp1 | a0001 | c0001 | t0001 | g0072 | AMR | CLM | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG01256 | hp2 | a0002 | c0002 | t0001 | g0132 | AMR | CLM | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG01346 | hp1 | a0002 | c0002 | t0001 | g0045 | AMR | CLM | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG01346 | hp2 | a0001 | c0001 | t0001 | g0079 | AMR | CLM | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG01884 | hp1 | a0005 | c0006 | t0001 | g0037 | AFR | ACB | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG01884 | hp2 | a0001 | c0001 | t0001 | g0101 | AFR | ACB | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG01891 | hp1 | a0003 | c0004 | t0002 | g0017 | AFR | ACB | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG01891 | hp2 | a0009 | c0015 | t0001 | g0028 | AFR | ACB | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG01978 | hp1 | a0001 | c0001 | t0001 | g0057 | AMR | PEL | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG01978 | hp2 | a0001 | c0001 | t0001 | g0084 | AMR | PEL | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG01981 | hp1 | a0002 | c0002 | t0001 | g0035 | AMR | PEL | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG01981 | hp2 | a0001 | c0001 | t0001 | g0050 | AMR | PEL | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG02040 | hp1 | a0001 | c0001 | t0001 | g0056 | EAS | KHV | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG02040 | hp2 | a0002 | c0002 | t0001 | g0127 | EAS | KHV | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG02071 | hp1 | a0001 | c0001 | t0001 | g0034 | EAS | KHV | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG02071 | hp2 | a0001 | c0001 | t0001 | g0073 | EAS | KHV | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG02145 | hp1 | a0001 | c0001 | t0001 | g0053 | AFR | ACB | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG02145 | hp2 | a0001 | c0003 | t0003 | g0012 | AFR | ACB | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG02148 | hp1 | a0002 | c0002 | t0001 | g0114 | AMR | PEL | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG02148 | hp2 | a0001 | c0001 | t0001 | g0087 | AMR | PEL | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG02257 | hp1 | a0001 | c0003 | t0004 | g0021 | AFR | ACB | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG02257 | hp2 | a0001 | c0003 | t0001 | g0133 | AFR | ACB | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG02258 | hp1 | a0001 | c0001 | t0001 | g0085 | AFR | ACB | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG02258 | hp2 | a0001 | c0003 | t0001 | g0031 | AFR | ACB | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG02280 | hp1 | a0003 | c0004 | t0002 | g0016 | AFR | ACB | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG02280 | hp2 | a0003 | c0005 | t0003 | g0010 | AFR | ACB | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG02451 | hp1 | a0001 | c0003 | t0004 | g0022 | AFR | ACB | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG02451 | hp2 | a0001 | c0001 | t0001 | g0002 | AFR | ACB | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG02572 | hp1 | a0001 | c0001 | t0001 | g0107 | AFR | GWD | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG02572 | hp2 | a0001 | c0003 | t0004 | g0019 | AFR | GWD | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG02615 | hp1 | a0001 | c0001 | t0001 | g0077 | AFR | GWD | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG02615 | hp2 | a0001 | c0001 | t0002 | g0024 | AFR | GWD | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG02622 | hp1 | a0005 | c0006 | t0001 | g0038 | AFR | GWD | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG02622 | hp2 | a0001 | c0009 | t0001 | g0040 | AFR | GWD | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG02683 | hp1 | a0001 | c0001 | t0001 | g0092 | SAS | PJL | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG02683 | hp2 | a0001 | c0001 | t0001 | g0061 | SAS | PJL | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG02698 | hp1 | a0001 | c0001 | t0001 | g0081 | SAS | PJL | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG02698 | hp2 | a0002 | c0002 | t0001 | g0118 | SAS | PJL | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG02723 | hp1 | a0001 | c0003 | t0001 | g0089 | AFR | GWD | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG02723 | hp2 | a0001 | c0003 | t0001 | g0027 | AFR | GWD | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG02896 | hp1 | a0001 | c0001 | t0001 | g0049 | AFR | GWD | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG02896 | hp2 | a0001 | c0001 | t0001 | g0036 | AFR | GWD | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG02922 | hp1 | a0001 | c0003 | t0002 | g0025 | AFR | ESN | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG02922 | hp2 | a0005 | c0006 | t0001 | g0039 | AFR | ESN | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG02976 | hp1 | a0001 | c0001 | t0001 | g0069 | AFR | ESN | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG02976 | hp2 | a0007 | c0008 | t0001 | g0144 | AFR | ESN | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG03041 | hp1 | a0001 | c0001 | t0001 | g0071 | AFR | GWD | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG03041 | hp2 | a0001 | c0003 | t0001 | g0032 | AFR | GWD | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG03098 | hp1 | a0001 | c0001 | t0001 | g0075 | AFR | MSL | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG03098 | hp2 | a0001 | c0001 | t0002 | g0023 | AFR | MSL | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG03130 | hp1 | a0010 | c0012 | t0001 | g0105 | AFR | ESN | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG03130 | hp2 | a0008 | c0010 | t0001 | g0111 | AFR | ESN | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG03139 | hp1 | a0001 | c0001 | t0001 | g0108 | AFR | ESN | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG03139 | hp2 | a0003 | c0004 | t0002 | g0015 | AFR | ESN | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG03195 | hp1 | a0001 | c0003 | t0001 | g0029 | AFR | ESN | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG03195 | hp2 | a0001 | c0001 | t0001 | g0004 | AFR | ESN | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG03209 | hp1 | a0001 | c0003 | t0001 | g0030 | AFR | MSL | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG03209 | hp2 | a0001 | c0001 | t0001 | g0054 | AFR | MSL | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG03225 | hp1 | a0011 | c0014 | t0001 | g0112 | AFR | MSL | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG03225 | hp2 | a0008 | c0010 | t0001 | g0109 | AFR | MSL | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG03453 | hp1 | a0001 | c0009 | t0001 | g0041 | AFR | MSL | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG03453 | hp2 | a0001 | c0001 | t0001 | g0068 | AFR | MSL | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG03486 | hp1 | a0001 | c0001 | t0001 | g0076 | AFR | MSL | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG03486 | hp2 | a0001 | c0003 | t0002 | g0007 | AFR | MSL | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG03491 | hp1 | a0002 | c0002 | t0001 | g0120 | SAS | PJL | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG03491 | hp2 | a0001 | c0001 | t0001 | g0003 | SAS | PJL | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG03492 | hp1 | a0004 | c0007 | t0001 | g0153 | SAS | PJL | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG03492 | hp2 | a0001 | c0001 | t0001 | g0003 | SAS | PJL | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG03516 | hp1 | a0001 | c0003 | t0001 | g0005 | AFR | ESN | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG03516 | hp2 | a0001 | c0001 | t0001 | g0102 | AFR | ESN | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG03710 | hp1 | a0001 | c0001 | t0001 | g0063 | SAS | PJL | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG03710 | hp2 | a0002 | c0002 | t0001 | g0136 | SAS | PJL | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG03831 | hp1 | a0001 | c0001 | t0001 | g0103 | SAS | BEB | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG03831 | hp2 | a0002 | c0002 | t0001 | g0123 | SAS | BEB | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG03942 | hp1 | a0002 | c0002 | t0001 | g0141 | SAS | BEB | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG03942 | hp2 | a0001 | c0001 | t0001 | g0067 | SAS | BEB | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG04115 | hp1 | a0001 | c0001 | t0001 | g0093 | SAS | STU | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG04115 | hp2 | a0002 | c0002 | t0001 | g0137 | SAS | STU | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG04184 | hp1 | a0002 | c0002 | t0001 | g0134 | SAS | BEB | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG04184 | hp2 | a0001 | c0001 | t0001 | g0074 | SAS | BEB | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG04199 | hp1 | a0001 | c0001 | t0001 | g0145 | SAS | STU | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG04199 | hp2 | a0001 | c0001 | t0001 | g0100 | SAS | STU | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG04228 | hp1 | a0001 | c0001 | t0001 | g0099 | SAS | STU | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG04228 | hp2 | a0001 | c0001 | t0001 | g0078 | SAS | STU | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| NA18522 | hp1 | a0001 | c0001 | t0001 | g0004 | AFR | YRI | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| NA18522 | hp2 | a0002 | c0002 | t0001 | g0042 | AFR | YRI | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| NA18612 | hp1 | a0001 | c0001 | t0001 | g0113 | EAS | CHB | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| NA18612 | hp2 | a0002 | c0002 | t0001 | g0124 | EAS | CHB | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| NA18906 | hp1 | a0003 | c0004 | t0002 | g0001 | AFR | YRI | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| NA18906 | hp2 | a0005 | c0006 | t0001 | g0033 | AFR | YRI | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| NA18942 | hp1 | a0002 | c0002 | t0001 | g0125 | EAS | JPT | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| NA18942 | hp2 | a0001 | c0001 | t0001 | g0066 | EAS | JPT | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| NA18951 | hp1 | a0001 | c0001 | t0001 | g0096 | EAS | JPT | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| NA18951 | hp2 | a0001 | c0001 | t0001 | g0044 | EAS | JPT | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| NA18970 | hp1 | a0001 | c0001 | t0001 | g0082 | EAS | JPT | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| NA18970 | hp2 | a0001 | c0001 | t0001 | g0098 | EAS | JPT | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| NA18975 | hp1 | a0001 | c0001 | t0001 | g0070 | EAS | JPT | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| NA18975 | hp2 | a0001 | c0001 | t0001 | g0106 | EAS | JPT | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| NA19002 | hp1 | a0001 | c0001 | t0001 | g0097 | EAS | JPT | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| NA19002 | hp2 | a0001 | c0001 | t0001 | g0052 | EAS | JPT | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| NA19012 | hp1 | a0002 | c0002 | t0001 | g0128 | EAS | JPT | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| NA19012 | hp2 | a0001 | c0001 | t0001 | g0095 | EAS | JPT | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| NA19030 | hp1 | a0003 | c0004 | t0002 | g0014 | AFR | LWK | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| NA19030 | hp2 | a0003 | c0005 | t0003 | g0008 | AFR | LWK | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| NA19043 | hp1 | a0001 | c0001 | t0001 | g0065 | AFR | LWK | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| NA19043 | hp2 | a0003 | c0005 | t0003 | g0011 | AFR | LWK | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| NA19058 | hp1 | a0001 | c0001 | t0001 | g0104 | EAS | JPT | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| NA19058 | hp2 | a0002 | c0002 | t0001 | g0116 | EAS | JPT | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| NA19062 | hp1 | a0002 | c0002 | t0001 | g0129 | EAS | JPT | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| NA19062 | hp2 | a0001 | c0001 | t0001 | g0047 | EAS | JPT | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| NA20129 | hp1 | a0001 | c0001 | t0001 | g0002 | AFR | ASW | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| NA20129 | hp2 | a0003 | c0004 | t0002 | g0001 | AFR | ASW | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| NA20752 | hp1 | a0001 | c0001 | t0001 | g0080 | EUR | TSI | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| NA20752 | hp2 | a0002 | c0002 | t0001 | g0131 | EUR | TSI | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG01123 | hp1 | a0001 | c0001 | t0001 | g0058 | AMR | CLM | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG01123 | hp2 | a0004 | c0007 | t0001 | g0151 | AMR | CLM | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG02109 | hp1 | a0007 | c0008 | t0001 | g0143 | AFR | ACB | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG02109 | hp2 | a0001 | c0003 | t0001 | g0091 | AFR | ACB | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG02486 | hp1 | a0001 | c0003 | t0003 | g0013 | AFR | ACB | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG02486 | hp2 | a0001 | c0003 | t0004 | g0020 | AFR | ACB | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG03471 | hp1 | a0001 | c0001 | t0001 | g0147 | AFR | MSL | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG03471 | hp2 | a0001 | c0003 | t0001 | g0090 | AFR | MSL | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG06807 | hp1 | a0003 | c0005 | t0001 | g0110 | AFR | USA | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| HG06807 | hp2 | a0003 | c0004 | t0002 | g0018 | AFR | USA | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| NA20300 | hp1 | a0003 | c0005 | t0003 | g0009 | AFR | USA | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| NA20300 | hp2 | a0004 | c0007 | t0001 | g0150 | AFR | USA | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| homoSapiens | chm13v2 | a0012 | c0013 | t0001 | g0152 | REF | REF | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| homoSapiens | grch38p0 | a0002 | c0002 | t0001 | g0126 | REF | REF | BTBD8_chr1_92075345_92189723 | BTBD8 | chr1 | 92075345 | 92189723 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:92080632 | T | C | 2 | a0007 a0010 |
3 | HG02109.hp1 HG02976.hp2 HG03130.hp1 |
missense_variant | MODERATE | c.61T>C | p.Cys21Arg | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/18 | 288/5999 | 61/5379 | 21/1792 | chr1 | 92080632 | |||
| chr1:92177333 | G | T | 1 | a0010 | 1 | HG03130.hp1 | missense_variant | MODERATE | c.2140G>T | p.Gly714Trp | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 14/18 | 2367/5999 | 2140/5379 | 714/1792 | chr1 | 92177333 | |||
| chr1:92177871 | A | G | 2 | a0009 a0011 |
2 | HG01891.hp2 HG03225.hp1 |
missense_variant | MODERATE | c.2414A>G | p.His805Arg | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 15/18 | 2641/5999 | 2414/5379 | 805/1792 | chr1 | 92177871 | |||
| chr1:92180396 | G | C | 2 | a0003 a0007 |
15 | HG01109.hp1 HG01891.hp1 HG02109.hp1 others(12): Show |
missense_variant | MODERATE | c.2713G>C | p.Val905Leu | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 17/18 | 2940/5999 | 2713/5379 | 905/1792 | chr1 | 92180396 | |||
| chr1:92180874 | A | G | 1 | a0008 | 2 | HG03130.hp2 HG03225.hp2 |
missense_variant | MODERATE | c.3191A>G | p.Asp1064Gly | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 17/18 | 3418/5999 | 3191/5379 | 1064/1792 | chr1 | 92180874 | |||
| chr1:92180975 | A | T | 1 | a0005 | 4 | HG01884.hp1 HG02622.hp1 HG02922.hp2 others(1): Show |
missense_variant | MODERATE | c.3292A>T | p.Asn1098Tyr | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 17/18 | 3519/5999 | 3292/5379 | 1098/1792 | chr1 | 92180975 | |||
| chr1:92181037 | C | G | 1 | a0009 | 1 | HG01891.hp2 | missense_variant | MODERATE | c.3354C>G | p.Ile1118Met | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 17/18 | 3581/5999 | 3354/5379 | 1118/1792 | chr1 | 92181037 | |||
| chr1:92181666 | A | G | 9 | a0001 a0003 a0005 others(6): Show |
122 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(119): Show |
missense_variant | MODERATE | c.3983A>G | p.Asn1328Ser | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 17/18 | 4210/5999 | 3983/5379 | 1328/1792 | chr1 | 92181666 | |||
| chr1:92182079 | T | G | 1 | a0004 | 4 | HG01123.hp2 HG01175.hp1 HG03492.hp1 others(1): Show |
missense_variant | MODERATE | c.4396T>G | p.Phe1466Val | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 17/18 | 4623/5999 | 4396/5379 | 1466/1792 | chr1 | 92182079 | |||
| chr1:92182304 | G | A | 1 | a0006 | 2 | HG00140.hp1 HG00423.hp2 |
missense_variant | MODERATE | c.4621G>A | p.Val1541Ile | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 17/18 | 4848/5999 | 4621/5379 | 1541/1792 | chr1 | 92182304 | |||
| chr1:92182403 | G | A | 2 | a0009 a0011 |
2 | HG01891.hp2 HG03225.hp1 |
missense_variant | MODERATE | c.4720G>A | p.Asp1574Asn | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 17/18 | 4947/5999 | 4720/5379 | 1574/1792 | chr1 | 92182403 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:92178321 | G | A | 1 | a0001c0009 | 2 | HG02622.hp2 HG03453.hp1 |
synonymous_variant | LOW | c.2451G>A | p.Lys817Lys | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 16/18 | 2678/5999 | 2451/5379 | 817/1792 | chr1 | 92178321 | |||
| chr1:92180377 | G | A | 2 | a0003c0005 a0007c0008 |
7 | HG02109.hp1 HG02280.hp2 HG02976.hp2 others(4): Show |
synonymous_variant | LOW | c.2694G>A | p.Lys898Lys | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 17/18 | 2921/5999 | 2694/5379 | 898/1792 | chr1 | 92180377 | |||
| chr1:92180464 | G | A | 6 | a0001c0001 a0001c0009 a0005c0006 others(3): Show |
85 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(82): Show |
synonymous_variant | LOW | c.2781G>A | p.Lys927Lys | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 17/18 | 3008/5999 | 2781/5379 | 927/1792 | chr1 | 92180464 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:92080369 | G | C | 4 | a0001c0001t0002 a0001c0003t0002 a0001c0003t0004 others(1): Show |
15 | HG01891.hp1 HG02257.hp1 HG02280.hp1 others(12): Show |
5_prime_UTR_variant | MODIFIER | c.-203G>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/18 | 203 | chr1 | 92080369 | ||||||
| chr1:92080411 | G | T | 1 | a0002c0002t0005 | 1 | HG01106.hp2 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-161G>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/18 | chr1 | 92080411 | |||||||
| chr1:92080560 | C | T | 2 | a0001c0003t0003 a0003c0005t0003 |
6 | HG02145.hp2 HG02280.hp2 HG02486.hp1 others(3): Show |
5_prime_UTR_variant | MODIFIER | c.-12C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/18 | 12 | chr1 | 92080560 | ||||||
| chr1:92184358 | C | T | 1 | a0001c0003t0004 | 4 | HG02257.hp1 HG02451.hp1 HG02486.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*28C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 18/18 | 28 | chr1 | 92184358 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:92080749 | T | A | 1 | a0001c0003t0001g0005 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.149+29T>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | chr1 | 92080749 | |||||||
| chr1:92080868 | C | T | 4 | a0004c0007t0001g0150 a0004c0007t0001g0151 a0004c0007t0001g0153 others(1): Show |
4 | HG01123.hp2 HG01175.hp1 HG03492.hp1 others(1): Show |
intron_variant | MODIFIER | c.149+148C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | chr1 | 92080868 | |||||||
| chr1:92081017 | T | C | 25 | a0001c0001t0001g0006 a0001c0001t0002g0023 a0001c0001t0002g0024 others(22): Show |
26 | HG01069.hp2 HG01109.hp1 HG01891.hp1 others(23): Show |
intron_variant | MODIFIER | c.149+297T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | chr1 | 92081017 | |||||||
| chr1:92081036 | C | T | 1 | a0002c0002t0001g0149 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.149+316C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | chr1 | 92081036 | |||||||
| chr1:92081172 | G | A | 1 | a0001c0003t0001g0029 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.149+452G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | chr1 | 92081172 | |||||||
| chr1:92081294 | G | T | 1 | a0009c0015t0001g0028 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.149+574G>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | chr1 | 92081294 | |||||||
| chr1:92081333 | C | T | 1 | a0001c0003t0001g0005 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.149+613C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | chr1 | 92081333 | |||||||
| chr1:92081386 | T | C | 1 | a0001c0001t0001g0006 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.149+666T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | chr1 | 92081386 | |||||||
| chr1:92081708 | G | A | 1 | a0001c0003t0001g0029 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.149+988G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | chr1 | 92081708 | |||||||
| chr1:92082215 | GT | G | 25 | a0001c0001t0001g0006 a0001c0001t0002g0023 a0001c0001t0002g0024 others(22): Show |
26 | HG01069.hp2 HG01109.hp1 HG01891.hp1 others(23): Show |
intron_variant | MODIFIER | c.149+1504delT | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | 92082215 | ||||||
| chr1:92082225 | A | T | 3 | a0001c0001t0001g0004 a0001c0001t0001g0147 a0002c0002t0005g0148 |
4 | HG01106.hp2 HG03195.hp2 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.149+1505A>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | chr1 | 92082225 | |||||||
| chr1:92082500 | G | A | 3 | a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 |
3 | HG02258.hp2 HG03041.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.149+1780G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | chr1 | 92082500 | |||||||
| chr1:92082546 | G | T | 24 | a0001c0001t0001g0006 a0001c0001t0002g0023 a0001c0001t0002g0024 others(21): Show |
25 | HG01069.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.149+1826G>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | chr1 | 92082546 | |||||||
| chr1:92082693 | C | T | 2 | a0001c0003t0001g0005 a0001c0003t0001g0027 |
2 | HG02723.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.149+1973C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | chr1 | 92082693 | |||||||
| chr1:92082791 | G | A | 24 | a0001c0001t0001g0006 a0001c0001t0002g0023 a0001c0001t0002g0024 others(21): Show |
25 | HG01069.hp2 HG01891.hp1 HG01891.hp2 others(22): Show |
intron_variant | MODIFIER | c.149+2071G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | chr1 | 92082791 | |||||||
| chr1:92083000 | G | A | 1 | a0001c0003t0002g0007 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.149+2280G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | chr1 | 92083000 | |||||||
| chr1:92083009 | A | G | 24 | a0001c0001t0001g0006 a0001c0001t0002g0023 a0001c0001t0002g0024 others(21): Show |
25 | HG01069.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.149+2289A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | chr1 | 92083009 | |||||||
| chr1:92083059 | C | T | 1 | a0001c0001t0001g0006 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.149+2339C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | chr1 | 92083059 | |||||||
| chr1:92083135 | C | CA | 7 | a0001c0001t0001g0006 a0001c0001t0001g0034 a0001c0003t0001g0030 others(4): Show |
7 | HG01069.hp2 HG01981.hp1 HG02071.hp1 others(4): Show |
intron_variant | MODIFIER | c.149+2432dupA | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | 92083135 | ||||||
| chr1:92083206 | G | A | 8 | a0001c0003t0003g0012 a0001c0003t0003g0013 a0003c0004t0001g0026 others(5): Show |
8 | HG01109.hp1 HG01891.hp2 HG02145.hp2 others(5): Show |
intron_variant | MODIFIER | c.149+2486G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | chr1 | 92083206 | |||||||
| chr1:92083425 | A | G | 24 | a0001c0001t0001g0006 a0001c0001t0002g0023 a0001c0001t0002g0024 others(21): Show |
25 | HG01069.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.149+2705A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | chr1 | 92083425 | |||||||
| chr1:92083663 | G | A | 13 | a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0003t0002g0025 others(10): Show |
14 | HG01891.hp1 HG02257.hp1 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.149+2943G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | chr1 | 92083663 | |||||||
| chr1:92083781 | C | T | 1 | a0001c0001t0001g0146 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.149+3061C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | chr1 | 92083781 | |||||||
| chr1:92084376 | T | C | 8 | a0001c0001t0001g0036 a0001c0009t0001g0040 a0001c0009t0001g0041 others(5): Show |
8 | HG01884.hp1 HG02622.hp1 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.149+3656T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | chr1 | 92084376 | |||||||
| chr1:92084542 | G | A | 11 | a0001c0001t0002g0023 a0001c0003t0004g0019 a0001c0003t0004g0020 others(8): Show |
12 | HG01891.hp1 HG02257.hp1 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.149+3822G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | chr1 | 92084542 | |||||||
| chr1:92084558 | T | A | 1 | a0001c0003t0001g0043 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.149+3838T>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | chr1 | 92084558 | |||||||
| chr1:92084734 | C | T | 2 | a0001c0003t0001g0005 a0001c0003t0001g0027 |
2 | HG02723.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.150-3964C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | chr1 | 92084734 | |||||||
| chr1:92084993 | C | T | 1 | a0001c0001t0001g0145 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.150-3705C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | chr1 | 92084993 | |||||||
| chr1:92085029 | G | A | 24 | a0001c0001t0001g0006 a0001c0001t0002g0023 a0001c0001t0002g0024 others(21): Show |
25 | HG01069.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.150-3669G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | chr1 | 92085029 | |||||||
| chr1:92085175 | C | A | 1 | a0001c0003t0001g0029 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.150-3523C>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | chr1 | 92085175 | |||||||
| chr1:92085200 | C | T | 2 | a0007c0008t0001g0143 a0007c0008t0001g0144 |
2 | HG02109.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.150-3498C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | chr1 | 92085200 | |||||||
| chr1:92085228 | G | A | 117 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(114): Show |
121 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(118): Show |
intron_variant | MODIFIER | c.150-3470G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | chr1 | 92085228 | |||||||
| chr1:92085506 | C | T | 1 | a0001c0001t0001g0006 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.150-3192C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | chr1 | 92085506 | |||||||
| chr1:92085724 | C | T | 1 | a0001c0001t0002g0023 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.150-2974C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | chr1 | 92085724 | |||||||
| chr1:92086016 | T | C | 25 | a0001c0001t0001g0006 a0001c0001t0002g0023 a0001c0001t0002g0024 others(22): Show |
26 | HG01069.hp2 HG01109.hp1 HG01891.hp1 others(23): Show |
intron_variant | MODIFIER | c.150-2682T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | chr1 | 92086016 | |||||||
| chr1:92086029 | G | A | 3 | a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 |
3 | HG02258.hp2 HG03041.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.150-2669G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | chr1 | 92086029 | |||||||
| chr1:92086031 | A | G | 1 | a0001c0001t0001g0113 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.150-2667A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | chr1 | 92086031 | |||||||
| chr1:92086138 | C | A | 2 | a0001c0003t0001g0005 a0001c0003t0001g0027 |
2 | HG02723.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.150-2560C>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | chr1 | 92086138 | |||||||
| chr1:92086203 | C | T | 1 | a0009c0015t0001g0028 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.150-2495C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | chr1 | 92086203 | |||||||
| chr1:92086276 | C | T | 1 | a0006c0011t0001g0142 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.150-2422C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | chr1 | 92086276 | |||||||
| chr1:92086386 | C | T | 1 | a0011c0014t0001g0112 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.150-2312C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | chr1 | 92086386 | |||||||
| chr1:92086533 | C | T | 5 | a0001c0001t0001g0107 a0001c0001t0001g0108 a0003c0005t0001g0110 others(2): Show |
5 | HG02572.hp1 HG03130.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.150-2165C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | chr1 | 92086533 | |||||||
| chr1:92086534 | G | A | 1 | a0001c0001t0001g0146 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.150-2164G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | chr1 | 92086534 | |||||||
| chr1:92086600 | C | T | 1 | a0001c0001t0001g0106 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.150-2098C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | chr1 | 92086600 | |||||||
| chr1:92086727 | C | T | 15 | a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0003t0001g0005 others(12): Show |
16 | HG01891.hp1 HG02257.hp1 HG02280.hp1 others(13): Show |
intron_variant | MODIFIER | c.150-1971C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | chr1 | 92086727 | |||||||
| chr1:92087001 | CATT | C | 3 | a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 |
3 | HG02258.hp2 HG03041.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.150-1696_150-1694d others(5): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | chr1 | 92087001 | |||||||
| chr1:92087156 | A | G | 40 | a0001c0001t0001g0006 a0001c0001t0001g0036 a0001c0001t0002g0023 others(37): Show |
41 | HG01069.hp2 HG01109.hp1 HG01884.hp1 others(38): Show |
intron_variant | MODIFIER | c.150-1542A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | chr1 | 92087156 | |||||||
| chr1:92087171 | A | G | 1 | a0001c0003t0001g0029 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.150-1527A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | chr1 | 92087171 | |||||||
| chr1:92087662 | A | G | 3 | a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 |
3 | HG02258.hp2 HG03041.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.150-1036A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | chr1 | 92087662 | |||||||
| chr1:92088155 | A | G | 13 | a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0003t0002g0025 others(10): Show |
14 | HG01891.hp1 HG02257.hp1 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.150-543A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | chr1 | 92088155 | |||||||
| chr1:92088331 | T | A | 13 | a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0003t0002g0025 others(10): Show |
14 | HG01891.hp1 HG02257.hp1 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.150-367T>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | chr1 | 92088331 | |||||||
| chr1:92088338 | A | G | 1 | a0001c0003t0001g0029 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.150-360A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | chr1 | 92088338 | |||||||
| chr1:92088441 | T | A | 24 | a0001c0001t0001g0006 a0001c0001t0002g0023 a0001c0001t0002g0024 others(21): Show |
25 | HG01069.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.150-257T>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 1/17 | chr1 | 92088441 | |||||||
| chr1:92089048 | C | T | 7 | a0001c0003t0003g0012 a0001c0003t0003g0013 a0003c0004t0001g0026 others(4): Show |
7 | HG01109.hp1 HG02145.hp2 HG02280.hp2 others(4): Show |
intron_variant | MODIFIER | c.347+153C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92089048 | |||||||
| chr1:92089299 | G | T | 1 | a0002c0002t0001g0141 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.347+404G>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92089299 | |||||||
| chr1:92089438 | A | G | 6 | a0001c0003t0003g0012 a0001c0003t0003g0013 a0003c0005t0003g0008 others(3): Show |
6 | HG02145.hp2 HG02280.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.347+543A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92089438 | |||||||
| chr1:92089468 | A | G | 14 | a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0003t0002g0007 others(11): Show |
15 | HG01891.hp1 HG02257.hp1 HG02280.hp1 others(12): Show |
intron_variant | MODIFIER | c.347+573A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92089468 | |||||||
| chr1:92089642 | C | T | 1 | a0001c0001t0001g0006 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.347+747C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92089642 | |||||||
| chr1:92089936 | A | G | 3 | a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 |
3 | HG02258.hp2 HG03041.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.347+1041A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92089936 | |||||||
| chr1:92089946 | C | G | 3 | a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 |
3 | HG02258.hp2 HG03041.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.347+1051C>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92089946 | |||||||
| chr1:92090251 | CCCACTAG others(5): Show |
C | 1 | a0001c0003t0001g0029 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.347+1357_347+1368d others(14): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92090251 | |||||||
| chr1:92090535 | G | T | 9 | a0001c0001t0001g0006 a0001c0003t0003g0012 a0001c0003t0003g0013 others(6): Show |
9 | HG01069.hp2 HG01109.hp1 HG01891.hp2 others(6): Show |
intron_variant | MODIFIER | c.347+1640G>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92090535 | |||||||
| chr1:92090905 | T | C | 26 | a0001c0001t0001g0006 a0001c0001t0002g0023 a0001c0001t0002g0024 others(23): Show |
27 | HG01069.hp2 HG01109.hp1 HG01891.hp1 others(24): Show |
intron_variant | MODIFIER | c.347+2010T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92090905 | |||||||
| chr1:92090942 | A | T | 2 | a0001c0001t0001g0103 a0001c0001t0001g0104 |
2 | HG03831.hp1 NA19058.hp1 |
intron_variant | MODIFIER | c.347+2047A>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92090942 | |||||||
| chr1:92090943 | T | A | 25 | a0001c0001t0001g0006 a0001c0001t0002g0023 a0001c0001t0002g0024 others(22): Show |
26 | HG01069.hp2 HG01109.hp1 HG01891.hp1 others(23): Show |
intron_variant | MODIFIER | c.347+2048T>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92090943 | |||||||
| chr1:92091198 | T | C | 2 | a0001c0001t0001g0107 a0001c0001t0001g0108 |
2 | HG02572.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.347+2303T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92091198 | |||||||
| chr1:92091228 | C | T | 1 | a0001c0001t0001g0102 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.347+2333C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92091228 | |||||||
| chr1:92091450 | C | CGT | 2 | a0001c0001t0001g0006 a0001c0001t0001g0101 |
2 | HG01069.hp2 HG01884.hp2 |
intron_variant | MODIFIER | c.347+2568_347+2569d others(4): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr1 | 92091450 | ||||||
| chr1:92091604 | G | A | 21 | a0001c0001t0002g0024 a0001c0003t0002g0007 a0001c0003t0002g0025 others(18): Show |
22 | HG01109.hp1 HG01891.hp1 HG01891.hp2 others(19): Show |
intron_variant | MODIFIER | c.347+2709G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92091604 | |||||||
| chr1:92091643 | G | A | 1 | a0001c0001t0001g0044 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.347+2748G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92091643 | |||||||
| chr1:92091670 | A | T | 3 | a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 |
3 | HG02258.hp2 HG03041.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.347+2775A>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92091670 | |||||||
| chr1:92091743 | T | C | 4 | a0001c0001t0002g0024 a0001c0003t0002g0007 a0001c0003t0002g0025 others(1): Show |
4 | HG01891.hp2 HG02615.hp2 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.347+2848T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92091743 | |||||||
| chr1:92091807 | AT | A | 3 | a0001c0003t0001g0029 a0007c0008t0001g0143 a0007c0008t0001g0144 |
3 | HG02109.hp1 HG02976.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.347+2916delT | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr1 | 92091807 | ||||||
| chr1:92091976 | A | G | 17 | a0001c0001t0001g0006 a0001c0001t0001g0101 a0001c0003t0001g0029 others(14): Show |
17 | HG01069.hp2 HG01884.hp1 HG01884.hp2 others(14): Show |
intron_variant | MODIFIER | c.347+3081A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92091976 | |||||||
| chr1:92092024 | A | G | 1 | a0001c0001t0001g0100 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.347+3129A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92092024 | |||||||
| chr1:92092058 | T | C | 1 | a0002c0002t0001g0045 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.347+3163T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92092058 | |||||||
| chr1:92092160 | G | T | 3 | a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0149 |
3 | HG00099.hp2 HG01069.hp1 HG01192.hp1 |
intron_variant | MODIFIER | c.347+3265G>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92092160 | |||||||
| chr1:92092162 | G | C | 4 | a0003c0005t0003g0008 a0003c0005t0003g0009 a0003c0005t0003g0010 others(1): Show |
4 | HG02280.hp2 NA19030.hp2 NA19043.hp2 others(1): Show |
intron_variant | MODIFIER | c.347+3267G>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92092162 | |||||||
| chr1:92092232 | C | T | 1 | a0001c0003t0001g0029 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.347+3337C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92092232 | |||||||
| chr1:92092300 | G | A | 1 | a0010c0012t0001g0105 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.347+3405G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92092300 | |||||||
| chr1:92092342 | T | G | 100 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(97): Show |
104 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(101): Show |
intron_variant | MODIFIER | c.347+3447T>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92092342 | |||||||
| chr1:92092394 | CA | C | 108 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(105): Show |
112 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(109): Show |
intron_variant | MODIFIER | c.347+3514delA | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr1 | 92092394 | ||||||
| chr1:92092704 | G | A | 2 | a0007c0008t0001g0143 a0007c0008t0001g0144 |
2 | HG02109.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.347+3809G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92092704 | |||||||
| chr1:92092934 | G | A | 1 | a0001c0001t0001g0046 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.347+4039G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92092934 | |||||||
| chr1:92093026 | G | A | 104 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(101): Show |
108 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(105): Show |
intron_variant | MODIFIER | c.347+4131G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92093026 | |||||||
| chr1:92093066 | T | C | 109 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(106): Show |
113 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(110): Show |
intron_variant | MODIFIER | c.347+4171T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92093066 | |||||||
| chr1:92093136 | A | G | 1 | a0001c0001t0001g0097 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.347+4241A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92093136 | |||||||
| chr1:92093187 | A | AT | 74 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(71): Show |
78 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(75): Show |
intron_variant | MODIFIER | c.347+4313dupT | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr1 | 92093187 | ||||||
| chr1:92093187 | A | ATT | 11 | a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0107 others(8): Show |
11 | HG01891.hp1 HG02572.hp1 HG03098.hp2 others(8): Show |
intron_variant | MODIFIER | c.347+4312_347+4313d others(4): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr1 | 92093187 | ||||||
| chr1:92093255 | T | G | 5 | a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 others(2): Show |
5 | HG02109.hp1 HG02258.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.347+4360T>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92093255 | |||||||
| chr1:92093888 | A | G | 1 | a0009c0015t0001g0028 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.347+4993A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92093888 | |||||||
| chr1:92093902 | G | A | 1 | a0001c0001t0001g0146 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.347+5007G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92093902 | |||||||
| chr1:92094329 | G | C | 110 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(107): Show |
114 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(111): Show |
intron_variant | MODIFIER | c.347+5434G>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92094329 | |||||||
| chr1:92094378 | A | C | 4 | a0001c0003t0004g0019 a0001c0003t0004g0020 a0001c0003t0004g0021 others(1): Show |
4 | HG02257.hp1 HG02451.hp1 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.347+5483A>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92094378 | |||||||
| chr1:92094927 | G | A | 1 | a0001c0003t0002g0007 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.347+6032G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92094927 | |||||||
| chr1:92095409 | C | T | 2 | a0001c0003t0003g0012 a0001c0003t0003g0013 |
2 | HG02145.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.347+6514C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92095409 | |||||||
| chr1:92095498 | A | G | 1 | a0011c0014t0001g0112 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.347+6603A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92095498 | |||||||
| chr1:92095616 | C | T | 4 | a0001c0003t0003g0012 a0001c0003t0003g0013 a0006c0011t0001g0138 others(1): Show |
4 | HG00140.hp1 HG00423.hp2 HG02145.hp2 others(1): Show |
intron_variant | MODIFIER | c.347+6721C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92095616 | |||||||
| chr1:92095673 | A | G | 4 | a0003c0005t0003g0008 a0003c0005t0003g0009 a0003c0005t0003g0010 others(1): Show |
4 | HG02280.hp2 NA19030.hp2 NA19043.hp2 others(1): Show |
intron_variant | MODIFIER | c.347+6778A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92095673 | |||||||
| chr1:92095691 | G | A | 4 | a0001c0003t0003g0012 a0001c0003t0003g0013 a0006c0011t0001g0138 others(1): Show |
4 | HG00140.hp1 HG00423.hp2 HG02145.hp2 others(1): Show |
intron_variant | MODIFIER | c.348-6782G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92095691 | |||||||
| chr1:92095742 | C | T | 11 | a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 others(8): Show |
11 | HG02109.hp1 HG02258.hp2 HG02280.hp2 others(8): Show |
intron_variant | MODIFIER | c.348-6731C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92095742 | |||||||
| chr1:92095835 | A | G | 78 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(75): Show |
81 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(78): Show |
intron_variant | MODIFIER | c.348-6638A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92095835 | |||||||
| chr1:92095848 | C | T | 3 | a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 |
3 | HG02258.hp2 HG03041.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.348-6625C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92095848 | |||||||
| chr1:92095974 | C | CT | 5 | a0001c0003t0001g0005 a0003c0005t0003g0008 a0003c0005t0003g0009 others(2): Show |
5 | HG02280.hp2 HG03516.hp1 NA19030.hp2 others(2): Show |
intron_variant | MODIFIER | c.348-6486dupT | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr1 | 92095974 | ||||||
| chr1:92095994 | CAG | C | 8 | a0001c0001t0002g0023 a0003c0004t0001g0026 a0003c0004t0002g0001 others(5): Show |
9 | HG01109.hp1 HG01891.hp1 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.348-6476_348-6475d others(4): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr1 | 92095994 | ||||||
| chr1:92096033 | G | A | 1 | a0009c0015t0001g0028 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.348-6440G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92096033 | |||||||
| chr1:92096177 | C | G | 4 | a0003c0005t0003g0008 a0003c0005t0003g0009 a0003c0005t0003g0010 others(1): Show |
4 | HG02280.hp2 NA19030.hp2 NA19043.hp2 others(1): Show |
intron_variant | MODIFIER | c.348-6296C>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92096177 | |||||||
| chr1:92096514 | T | C | 2 | a0001c0003t0003g0012 a0001c0003t0003g0013 |
2 | HG02145.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.348-5959T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92096514 | |||||||
| chr1:92096551 | C | CT | 5 | a0001c0001t0001g0094 a0001c0003t0003g0012 a0001c0003t0003g0013 others(2): Show |
5 | HG00140.hp1 HG00423.hp2 HG00438.hp1 others(2): Show |
intron_variant | MODIFIER | c.348-5906dupT | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr1 | 92096551 | ||||||
| chr1:92096551 | CT | C | 9 | a0001c0001t0002g0023 a0003c0004t0001g0026 a0003c0004t0002g0001 others(6): Show |
10 | HG01109.hp1 HG01891.hp1 HG02280.hp1 others(7): Show |
intron_variant | MODIFIER | c.348-5906delT | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr1 | 92096551 | ||||||
| chr1:92096936 | C | T | 1 | a0010c0012t0001g0105 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.348-5537C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92096936 | |||||||
| chr1:92097112 | C | G | 4 | a0003c0005t0003g0008 a0003c0005t0003g0009 a0003c0005t0003g0010 others(1): Show |
4 | HG02280.hp2 NA19030.hp2 NA19043.hp2 others(1): Show |
intron_variant | MODIFIER | c.348-5361C>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92097112 | |||||||
| chr1:92097182 | A | AT | 108 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(105): Show |
112 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(109): Show |
intron_variant | MODIFIER | c.348-5288dupT | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr1 | 92097182 | ||||||
| chr1:92097458 | C | T | 1 | a0002c0002t0001g0141 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.348-5015C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92097458 | |||||||
| chr1:92097474 | A | G | 78 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(75): Show |
81 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(78): Show |
intron_variant | MODIFIER | c.348-4999A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92097474 | |||||||
| chr1:92097562 | C | T | 1 | a0002c0002t0001g0042 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.348-4911C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92097562 | |||||||
| chr1:92097563 | C | G | 78 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(75): Show |
81 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(78): Show |
intron_variant | MODIFIER | c.348-4910C>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92097563 | |||||||
| chr1:92097625 | G | A | 78 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(75): Show |
81 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(78): Show |
intron_variant | MODIFIER | c.348-4848G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92097625 | |||||||
| chr1:92097632 | T | A | 110 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(107): Show |
114 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(111): Show |
intron_variant | MODIFIER | c.348-4841T>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92097632 | |||||||
| chr1:92097731 | G | T | 2 | a0001c0001t0001g0092 a0001c0001t0001g0093 |
2 | HG02683.hp1 HG04115.hp1 |
intron_variant | MODIFIER | c.348-4742G>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92097731 | |||||||
| chr1:92097816 | G | A | 78 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(75): Show |
81 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(78): Show |
intron_variant | MODIFIER | c.348-4657G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92097816 | |||||||
| chr1:92097944 | A | G | 3 | a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 |
3 | HG02258.hp2 HG03041.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.348-4529A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92097944 | |||||||
| chr1:92098240 | T | C | 4 | a0001c0003t0003g0012 a0001c0003t0003g0013 a0006c0011t0001g0138 others(1): Show |
4 | HG00140.hp1 HG00423.hp2 HG02145.hp2 others(1): Show |
intron_variant | MODIFIER | c.348-4233T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92098240 | |||||||
| chr1:92098590 | A | T | 78 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(75): Show |
81 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(78): Show |
intron_variant | MODIFIER | c.348-3883A>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92098590 | |||||||
| chr1:92099025 | T | C | 1 | a0004c0007t0001g0150 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.348-3448T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92099025 | |||||||
| chr1:92099060 | G | T | 119 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(116): Show |
123 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(120): Show |
intron_variant | MODIFIER | c.348-3413G>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92099060 | |||||||
| chr1:92099087 | C | T | 89 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(86): Show |
93 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(90): Show |
intron_variant | MODIFIER | c.348-3386C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92099087 | |||||||
| chr1:92099239 | T | C | 2 | a0001c0003t0001g0005 a0001c0003t0001g0027 |
2 | HG02723.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.348-3234T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92099239 | |||||||
| chr1:92099263 | T | C | 2 | a0001c0003t0001g0005 a0001c0003t0001g0027 |
2 | HG02723.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.348-3210T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92099263 | |||||||
| chr1:92099420 | C | CA | 9 | a0001c0001t0001g0050 a0001c0003t0001g0005 a0001c0003t0001g0030 others(6): Show |
9 | HG01981.hp2 HG02109.hp1 HG02258.hp2 others(6): Show |
intron_variant | MODIFIER | c.348-3038dupA | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr1 | 92099420 | ||||||
| chr1:92099428 | A | G | 2 | a0001c0003t0003g0012 a0001c0003t0003g0013 |
2 | HG02145.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.348-3045A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92099428 | |||||||
| chr1:92100413 | T | C | 1 | a0002c0002t0001g0149 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.348-2060T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92100413 | |||||||
| chr1:92100501 | A | G | 1 | a0001c0001t0001g0006 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.348-1972A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92100501 | |||||||
| chr1:92100553 | G | A | 3 | a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 |
3 | HG02258.hp2 HG03041.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.348-1920G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92100553 | |||||||
| chr1:92100861 | G | A | 1 | a0001c0003t0002g0007 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.348-1612G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92100861 | |||||||
| chr1:92100937 | T | A | 1 | a0002c0002t0001g0114 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.348-1536T>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92100937 | |||||||
| chr1:92100971 | G | A | 4 | a0003c0005t0003g0008 a0003c0005t0003g0009 a0003c0005t0003g0010 others(1): Show |
4 | HG02280.hp2 NA19030.hp2 NA19043.hp2 others(1): Show |
intron_variant | MODIFIER | c.348-1502G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92100971 | |||||||
| chr1:92100990 | T | G | 1 | a0001c0001t0001g0051 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.348-1483T>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92100990 | |||||||
| chr1:92101221 | C | T | 2 | a0001c0003t0001g0005 a0001c0003t0001g0027 |
2 | HG02723.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.348-1252C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92101221 | |||||||
| chr1:92101254 | CAT | C | 4 | a0001c0001t0001g0107 a0001c0001t0001g0108 a0008c0010t0001g0109 others(1): Show |
4 | HG02572.hp1 HG03130.hp2 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.348-1216_348-1215d others(4): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr1 | 92101254 | ||||||
| chr1:92101296 | G | C | 77 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(74): Show |
80 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(77): Show |
intron_variant | MODIFIER | c.348-1177G>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92101296 | |||||||
| chr1:92101357 | G | A | 4 | a0001c0003t0004g0019 a0001c0003t0004g0020 a0001c0003t0004g0021 others(1): Show |
4 | HG02257.hp1 HG02451.hp1 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.348-1116G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92101357 | |||||||
| chr1:92101508 | G | A | 1 | a0009c0015t0001g0028 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.348-965G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92101508 | |||||||
| chr1:92101608 | C | T | 1 | a0003c0004t0001g0026 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.348-865C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92101608 | |||||||
| chr1:92101730 | C | T | 15 | a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 others(12): Show |
15 | HG01081.hp2 HG02109.hp1 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.348-743C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92101730 | |||||||
| chr1:92101853 | C | T | 4 | a0001c0003t0003g0012 a0001c0003t0003g0013 a0006c0011t0001g0138 others(1): Show |
4 | HG00140.hp1 HG00423.hp2 HG02145.hp2 others(1): Show |
intron_variant | MODIFIER | c.348-620C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92101853 | |||||||
| chr1:92101976 | G | T | 8 | a0001c0001t0002g0023 a0003c0004t0001g0026 a0003c0004t0002g0001 others(5): Show |
9 | HG01109.hp1 HG01891.hp1 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.348-497G>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92101976 | |||||||
| chr1:92101978 | G | A | 1 | a0005c0006t0001g0038 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.348-495G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92101978 | |||||||
| chr1:92102398 | C | G | 2 | a0001c0009t0001g0040 a0001c0009t0001g0041 |
2 | HG02622.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.348-75C>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 2/17 | chr1 | 92102398 | |||||||
| chr1:92102704 | G | A | 2 | a0001c0003t0001g0005 a0001c0003t0001g0027 |
2 | HG02723.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.544+35G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 3/17 | chr1 | 92102704 | |||||||
| chr1:92102706 | A | G | 103 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(100): Show |
107 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(104): Show |
intron_variant | MODIFIER | c.544+37A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 3/17 | chr1 | 92102706 | |||||||
| chr1:92102766 | A | AT | 5 | a0001c0003t0001g0005 a0001c0003t0001g0027 a0001c0003t0001g0030 others(2): Show |
5 | HG02258.hp2 HG02723.hp2 HG03041.hp2 others(2): Show |
intron_variant | MODIFIER | c.544+107dupT | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | 92102766 | ||||||
| chr1:92102837 | G | A | 1 | a0001c0001t0001g0052 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.544+168G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 3/17 | chr1 | 92102837 | |||||||
| chr1:92102906 | G | A | 1 | a0001c0001t0001g0053 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.544+237G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 3/17 | chr1 | 92102906 | |||||||
| chr1:92103239 | A | G | 1 | a0001c0001t0001g0088 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.544+570A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 3/17 | chr1 | 92103239 | |||||||
| chr1:92103338 | A | G | 8 | a0001c0001t0001g0006 a0001c0009t0001g0040 a0001c0009t0001g0041 others(5): Show |
8 | HG01069.hp2 HG01884.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.544+669A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 3/17 | chr1 | 92103338 | |||||||
| chr1:92103863 | A | C | 4 | a0001c0003t0003g0012 a0001c0003t0003g0013 a0006c0011t0001g0138 others(1): Show |
4 | HG00140.hp1 HG00423.hp2 HG02145.hp2 others(1): Show |
intron_variant | MODIFIER | c.544+1194A>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 3/17 | chr1 | 92103863 | |||||||
| chr1:92104070 | A | T | 101 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(98): Show |
105 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(102): Show |
intron_variant | MODIFIER | c.544+1401A>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 3/17 | chr1 | 92104070 | |||||||
| chr1:92104076 | T | C | 4 | a0001c0003t0004g0019 a0001c0003t0004g0020 a0001c0003t0004g0021 others(1): Show |
4 | HG02257.hp1 HG02451.hp1 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.544+1407T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 3/17 | chr1 | 92104076 | |||||||
| chr1:92104077 | G | A | 101 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(98): Show |
105 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(102): Show |
intron_variant | MODIFIER | c.544+1408G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 3/17 | chr1 | 92104077 | |||||||
| chr1:92104343 | C | T | 21 | a0001c0001t0001g0003 a0001c0001t0001g0034 a0001c0001t0001g0050 others(18): Show |
22 | HG00099.hp1 HG00140.hp2 HG01081.hp1 others(19): Show |
intron_variant | MODIFIER | c.544+1674C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 3/17 | chr1 | 92104343 | |||||||
| chr1:92104478 | C | G | 8 | a0001c0001t0002g0023 a0003c0004t0001g0026 a0003c0004t0002g0001 others(5): Show |
9 | HG01109.hp1 HG01891.hp1 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.544+1809C>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 3/17 | chr1 | 92104478 | |||||||
| chr1:92104623 | C | T | 3 | a0001c0001t0001g0049 a0001c0001t0001g0076 a0001c0001t0001g0077 |
3 | HG02615.hp1 HG02896.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.544+1954C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 3/17 | chr1 | 92104623 | |||||||
| chr1:92104761 | G | A | 4 | a0001c0003t0004g0019 a0001c0003t0004g0020 a0001c0003t0004g0021 others(1): Show |
4 | HG02257.hp1 HG02451.hp1 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.544+2092G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 3/17 | chr1 | 92104761 | |||||||
| chr1:92104937 | A | AT | 81 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(78): Show |
84 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(81): Show |
intron_variant | MODIFIER | c.544+2280dupT | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | 92104937 | ||||||
| chr1:92104939 | T | TA | 3 | a0001c0001t0001g0049 a0001c0001t0001g0076 a0001c0001t0001g0077 |
3 | HG02615.hp1 HG02896.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.544+2270_544+2271i others(3): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 3/17 | chr1 | 92104939 | |||||||
| chr1:92105206 | ACAGG | A | 2 | a0001c0003t0001g0005 a0001c0003t0001g0027 |
2 | HG02723.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.544+2539_544+2542d others(6): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | 92105206 | ||||||
| chr1:92105407 | A | G | 2 | a0007c0008t0001g0143 a0007c0008t0001g0144 |
2 | HG02109.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.545-2477A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 3/17 | chr1 | 92105407 | |||||||
| chr1:92105502 | C | T | 1 | a0010c0012t0001g0105 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.545-2382C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 3/17 | chr1 | 92105502 | |||||||
| chr1:92105738 | T | A | 73 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(70): Show |
76 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(73): Show |
intron_variant | MODIFIER | c.545-2146T>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 3/17 | chr1 | 92105738 | |||||||
| chr1:92105818 | A | G | 2 | a0007c0008t0001g0143 a0007c0008t0001g0144 |
2 | HG02109.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.545-2066A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 3/17 | chr1 | 92105818 | |||||||
| chr1:92105885 | T | C | 4 | a0001c0003t0001g0043 a0001c0003t0001g0089 a0001c0003t0001g0090 others(1): Show |
4 | HG01081.hp2 HG02109.hp2 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.545-1999T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 3/17 | chr1 | 92105885 | |||||||
| chr1:92105924 | G | A | 2 | a0007c0008t0001g0143 a0007c0008t0001g0144 |
2 | HG02109.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.545-1960G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 3/17 | chr1 | 92105924 | |||||||
| chr1:92106045 | A | T | 1 | a0001c0003t0001g0029 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.545-1839A>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 3/17 | chr1 | 92106045 | |||||||
| chr1:92106194 | G | A | 2 | a0001c0003t0002g0007 a0001c0003t0002g0025 |
2 | HG02922.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.545-1690G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 3/17 | chr1 | 92106194 | |||||||
| chr1:92106219 | A | T | 1 | a0001c0001t0001g0087 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.545-1665A>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 3/17 | chr1 | 92106219 | |||||||
| chr1:92106386 | C | A | 2 | a0001c0001t0001g0053 a0001c0001t0001g0054 |
2 | HG02145.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.545-1498C>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 3/17 | chr1 | 92106386 | |||||||
| chr1:92106398 | C | T | 4 | a0001c0003t0003g0012 a0001c0003t0003g0013 a0006c0011t0001g0138 others(1): Show |
4 | HG00140.hp1 HG00423.hp2 HG02145.hp2 others(1): Show |
intron_variant | MODIFIER | c.545-1486C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 3/17 | chr1 | 92106398 | |||||||
| chr1:92106400 | C | T | 1 | a0001c0001t0001g0097 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.545-1484C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 3/17 | chr1 | 92106400 | |||||||
| chr1:92106495 | C | T | 82 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(79): Show |
86 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(83): Show |
intron_variant | MODIFIER | c.545-1389C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 3/17 | chr1 | 92106495 | |||||||
| chr1:92106660 | C | CA | 27 | a0001c0001t0001g0046 a0001c0001t0001g0075 a0001c0001t0001g0086 others(24): Show |
27 | HG00099.hp2 HG01069.hp1 HG01070.hp1 others(24): Show |
intron_variant | MODIFIER | c.545-1195dupA | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | 92106660 | ||||||
| chr1:92106660 | C | CAA | 39 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0036 others(36): Show |
41 | HG00099.hp1 HG00408.hp2 HG00423.hp1 others(38): Show |
intron_variant | MODIFIER | c.545-1196_545-1195d others(4): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | 92106660 | ||||||
| chr1:92106660 | C | CAAA | 26 | a0001c0001t0001g0004 a0001c0001t0001g0047 a0001c0001t0001g0050 others(23): Show |
27 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(24): Show |
intron_variant | MODIFIER | c.545-1197_545-1195d others(5): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | 92106660 | ||||||
| chr1:92106660 | C | CAAAA | 9 | a0001c0001t0001g0034 a0001c0001t0001g0055 a0001c0001t0001g0056 others(6): Show |
9 | HG00423.hp2 HG00438.hp1 HG01168.hp2 others(6): Show |
intron_variant | MODIFIER | c.545-1198_545-1195d others(6): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | 92106660 | ||||||
| chr1:92106660 | C | CAAAAAAA others(3): Show |
4 | a0001c0003t0001g0030 a0001c0003t0001g0031 a0003c0005t0003g0008 others(1): Show |
4 | HG02258.hp2 HG03209.hp1 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.545-1204_545-1195d others(12): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | 92106660 | ||||||
| chr1:92106660 | C | CAAAAAAA others(11): Show |
1 | a0009c0015t0001g0028 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.545-1212_545-1195d others(20): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | 92106660 | ||||||
| chr1:92106660 | CAAAAAAA others(4): Show |
C | 1 | a0001c0003t0002g0007 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.545-1205_545-1195d others(13): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | 92106660 | ||||||
| chr1:92106739 | C | G | 73 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(70): Show |
76 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(73): Show |
intron_variant | MODIFIER | c.545-1145C>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 3/17 | chr1 | 92106739 | |||||||
| chr1:92107320 | G | A | 109 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(106): Show |
113 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(110): Show |
intron_variant | MODIFIER | c.545-564G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 3/17 | chr1 | 92107320 | |||||||
| chr1:92107430 | C | G | 15 | a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 others(12): Show |
15 | HG01081.hp2 HG02109.hp1 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.545-454C>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 3/17 | chr1 | 92107430 | |||||||
| chr1:92107489 | C | T | 2 | a0001c0001t0001g0081 a0001c0001t0001g0085 |
2 | HG02258.hp1 HG02698.hp1 |
intron_variant | MODIFIER | c.545-395C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 3/17 | chr1 | 92107489 | |||||||
| chr1:92107507 | T | A | 1 | a0001c0001t0001g0106 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.545-377T>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 3/17 | chr1 | 92107507 | |||||||
| chr1:92107567 | G | T | 5 | a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 others(2): Show |
5 | HG00280.hp2 HG03710.hp2 HG03942.hp1 others(2): Show |
intron_variant | MODIFIER | c.545-317G>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 3/17 | chr1 | 92107567 | |||||||
| chr1:92107835 | AC | A | 2 | a0004c0007t0001g0150 a0004c0007t0001g0151 |
2 | HG01123.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.545-48delC | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 3/17 | chr1 | 92107835 | |||||||
| chr1:92107847 | T | A | 3 | a0001c0001t0001g0099 a0002c0002t0001g0114 a0002c0002t0001g0118 |
3 | HG02148.hp1 HG02698.hp2 HG04228.hp1 |
intron_variant | MODIFIER | c.545-37T>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 3/17 | chr1 | 92107847 | |||||||
| chr1:92108113 | G | A | 22 | a0001c0001t0001g0003 a0001c0001t0001g0034 a0001c0001t0001g0050 others(19): Show |
23 | HG00099.hp1 HG00140.hp2 HG01081.hp1 others(20): Show |
intron_variant | MODIFIER | c.662+112G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92108113 | |||||||
| chr1:92108242 | G | A | 1 | a0002c0002t0001g0119 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.662+241G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92108242 | |||||||
| chr1:92108424 | T | G | 1 | a0003c0005t0001g0110 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.662+423T>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92108424 | |||||||
| chr1:92108569 | G | A | 1 | a0002c0002t0005g0148 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.662+568G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92108569 | |||||||
| chr1:92108590 | G | A | 4 | a0001c0003t0004g0019 a0001c0003t0004g0020 a0001c0003t0004g0021 others(1): Show |
4 | HG02257.hp1 HG02451.hp1 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.662+589G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92108590 | |||||||
| chr1:92108809 | A | G | 1 | a0001c0003t0002g0025 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.662+808A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92108809 | |||||||
| chr1:92109037 | A | G | 15 | a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 others(12): Show |
15 | HG01081.hp2 HG02109.hp1 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.662+1036A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92109037 | |||||||
| chr1:92109083 | G | A | 107 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(104): Show |
111 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(108): Show |
intron_variant | MODIFIER | c.662+1082G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92109083 | |||||||
| chr1:92109114 | T | C | 3 | a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 |
3 | HG02258.hp2 HG03041.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.662+1113T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92109114 | |||||||
| chr1:92109165 | G | C | 82 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(79): Show |
86 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(83): Show |
intron_variant | MODIFIER | c.662+1164G>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92109165 | |||||||
| chr1:92109174 | A | T | 118 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(115): Show |
122 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(119): Show |
intron_variant | MODIFIER | c.662+1173A>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92109174 | |||||||
| chr1:92109188 | G | A | 83 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(80): Show |
87 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(84): Show |
intron_variant | MODIFIER | c.662+1187G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92109188 | |||||||
| chr1:92109188 | G | C | 3 | a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 |
3 | HG02258.hp2 HG03041.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.662+1187G>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92109188 | |||||||
| chr1:92109199 | A | G | 4 | a0001c0003t0004g0019 a0001c0003t0004g0020 a0001c0003t0004g0021 others(1): Show |
4 | HG02257.hp1 HG02451.hp1 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.662+1198A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92109199 | |||||||
| chr1:92109252 | CT | C | 16 | a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0097 others(13): Show |
16 | HG01168.hp2 HG02109.hp1 HG02258.hp2 others(13): Show |
intron_variant | MODIFIER | c.662+1266delT | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | 92109252 | ||||||
| chr1:92109491 | C | T | 1 | a0001c0001t0001g0036 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.662+1490C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92109491 | |||||||
| chr1:92109677 | C | A | 1 | a0002c0002t0001g0120 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.662+1676C>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92109677 | |||||||
| chr1:92109708 | T | C | 2 | a0007c0008t0001g0143 a0007c0008t0001g0144 |
2 | HG02109.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.662+1707T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92109708 | |||||||
| chr1:92109721 | A | G | 73 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(70): Show |
76 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(73): Show |
intron_variant | MODIFIER | c.662+1720A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92109721 | |||||||
| chr1:92109900 | T | C | 2 | a0006c0011t0001g0138 a0006c0011t0001g0142 |
2 | HG00140.hp1 HG00423.hp2 |
intron_variant | MODIFIER | c.662+1899T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92109900 | |||||||
| chr1:92110305 | T | C | 1 | a0001c0001t0001g0063 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.662+2304T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92110305 | |||||||
| chr1:92110311 | T | C | 4 | a0001c0003t0001g0043 a0001c0003t0001g0089 a0001c0003t0001g0090 others(1): Show |
4 | HG01081.hp2 HG02109.hp2 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.662+2310T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92110311 | |||||||
| chr1:92110477 | T | C | 2 | a0001c0003t0002g0007 a0001c0003t0002g0025 |
2 | HG02922.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.662+2476T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92110477 | |||||||
| chr1:92110499 | G | A | 2 | a0001c0003t0001g0005 a0001c0003t0001g0027 |
2 | HG02723.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.662+2498G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92110499 | |||||||
| chr1:92110612 | G | A | 8 | a0001c0001t0002g0023 a0003c0004t0001g0026 a0003c0004t0002g0001 others(5): Show |
9 | HG01109.hp1 HG01891.hp1 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.662+2611G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92110612 | |||||||
| chr1:92110624 | G | C | 2 | a0010c0012t0001g0105 a0011c0014t0001g0112 |
2 | HG03130.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.662+2623G>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92110624 | |||||||
| chr1:92110725 | A | G | 1 | a0001c0001t0001g0092 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.662+2724A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92110725 | |||||||
| chr1:92110785 | C | T | 8 | a0001c0001t0002g0023 a0003c0004t0001g0026 a0003c0004t0002g0001 others(5): Show |
9 | HG01109.hp1 HG01891.hp1 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.662+2784C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92110785 | |||||||
| chr1:92110794 | C | T | 4 | a0001c0003t0001g0043 a0001c0003t0001g0089 a0001c0003t0001g0090 others(1): Show |
4 | HG01081.hp2 HG02109.hp2 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.662+2793C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92110794 | |||||||
| chr1:92110851 | C | T | 1 | a0001c0001t0002g0023 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.662+2850C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92110851 | |||||||
| chr1:92111040 | G | C | 1 | a0002c0002t0001g0121 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.662+3039G>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92111040 | |||||||
| chr1:92111053 | G | A | 2 | a0001c0003t0002g0007 a0001c0003t0002g0025 |
2 | HG02922.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.662+3052G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92111053 | |||||||
| chr1:92111078 | G | T | 1 | a0006c0011t0001g0142 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.662+3077G>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92111078 | |||||||
| chr1:92111082 | C | A | 9 | a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 others(6): Show |
9 | HG02109.hp1 HG02258.hp2 HG02280.hp2 others(6): Show |
intron_variant | MODIFIER | c.662+3081C>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92111082 | |||||||
| chr1:92111116 | C | T | 3 | a0001c0003t0001g0133 a0002c0002t0001g0035 a0002c0002t0001g0132 |
3 | HG01256.hp2 HG01981.hp1 HG02257.hp2 |
intron_variant | MODIFIER | c.662+3115C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92111116 | |||||||
| chr1:92111405 | A | T | 4 | a0001c0003t0004g0019 a0001c0003t0004g0020 a0001c0003t0004g0021 others(1): Show |
4 | HG02257.hp1 HG02451.hp1 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.662+3404A>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92111405 | |||||||
| chr1:92111538 | G | T | 1 | a0003c0004t0001g0026 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.662+3537G>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92111538 | |||||||
| chr1:92111548 | C | T | 109 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(106): Show |
113 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(110): Show |
intron_variant | MODIFIER | c.662+3547C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92111548 | |||||||
| chr1:92111568 | C | T | 4 | a0001c0003t0001g0043 a0001c0003t0001g0089 a0001c0003t0001g0090 others(1): Show |
4 | HG01081.hp2 HG02109.hp2 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.662+3567C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92111568 | |||||||
| chr1:92111653 | A | G | 2 | a0001c0003t0001g0005 a0001c0003t0001g0027 |
2 | HG02723.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.662+3652A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92111653 | |||||||
| chr1:92111729 | C | T | 1 | a0003c0004t0002g0018 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.662+3728C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92111729 | |||||||
| chr1:92111736 | C | T | 4 | a0001c0003t0003g0012 a0001c0003t0003g0013 a0006c0011t0001g0138 others(1): Show |
4 | HG00140.hp1 HG00423.hp2 HG02145.hp2 others(1): Show |
intron_variant | MODIFIER | c.662+3735C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92111736 | |||||||
| chr1:92111922 | C | A | 1 | a0001c0003t0002g0007 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.662+3921C>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92111922 | |||||||
| chr1:92111976 | G | A | 4 | a0001c0003t0003g0012 a0001c0003t0003g0013 a0006c0011t0001g0138 others(1): Show |
4 | HG00140.hp1 HG00423.hp2 HG02145.hp2 others(1): Show |
intron_variant | MODIFIER | c.662+3975G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92111976 | |||||||
| chr1:92112157 | C | T | 3 | a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0149 |
3 | HG00099.hp2 HG01069.hp1 HG01192.hp1 |
intron_variant | MODIFIER | c.662+4156C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92112157 | |||||||
| chr1:92112247 | A | G | 6 | a0001c0009t0001g0040 a0001c0009t0001g0041 a0005c0006t0001g0033 others(3): Show |
6 | HG01884.hp1 HG02622.hp1 HG02622.hp2 others(3): Show |
intron_variant | MODIFIER | c.662+4246A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92112247 | |||||||
| chr1:92112291 | C | G | 73 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(70): Show |
76 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(73): Show |
intron_variant | MODIFIER | c.662+4290C>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92112291 | |||||||
| chr1:92112325 | G | T | 7 | a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 others(4): Show |
7 | HG02258.hp2 HG02280.hp2 HG03041.hp2 others(4): Show |
intron_variant | MODIFIER | c.662+4324G>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92112325 | |||||||
| chr1:92112509 | G | A | 4 | a0001c0003t0003g0012 a0001c0003t0003g0013 a0006c0011t0001g0138 others(1): Show |
4 | HG00140.hp1 HG00423.hp2 HG02145.hp2 others(1): Show |
intron_variant | MODIFIER | c.662+4508G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92112509 | |||||||
| chr1:92112636 | C | G | 4 | a0003c0005t0003g0008 a0003c0005t0003g0009 a0003c0005t0003g0010 others(1): Show |
4 | HG02280.hp2 NA19030.hp2 NA19043.hp2 others(1): Show |
intron_variant | MODIFIER | c.662+4635C>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92112636 | |||||||
| chr1:92112886 | A | C | 1 | a0001c0001t0001g0094 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.662+4885A>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92112886 | |||||||
| chr1:92113052 | C | G | 1 | a0002c0002t0001g0042 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.662+5051C>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92113052 | |||||||
| chr1:92113392 | A | G | 2 | a0007c0008t0001g0143 a0007c0008t0001g0144 |
2 | HG02109.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.662+5391A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92113392 | |||||||
| chr1:92113414 | C | A | 1 | a0009c0015t0001g0028 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.662+5413C>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92113414 | |||||||
| chr1:92113552 | G | C | 2 | a0001c0001t0001g0107 a0001c0001t0001g0108 |
2 | HG02572.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.662+5551G>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92113552 | |||||||
| chr1:92113642 | T | G | 4 | a0001c0003t0003g0012 a0001c0003t0003g0013 a0006c0011t0001g0138 others(1): Show |
4 | HG00140.hp1 HG00423.hp2 HG02145.hp2 others(1): Show |
intron_variant | MODIFIER | c.662+5641T>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92113642 | |||||||
| chr1:92113646 | A | C | 2 | a0001c0003t0003g0012 a0001c0003t0003g0013 |
2 | HG02145.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.662+5645A>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92113646 | |||||||
| chr1:92113647 | TG | T | 2 | a0001c0003t0003g0012 a0001c0003t0003g0013 |
2 | HG02145.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.662+5647delG | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92113647 | |||||||
| chr1:92113649 | A | G | 107 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(104): Show |
111 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(108): Show |
intron_variant | MODIFIER | c.662+5648A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92113649 | |||||||
| chr1:92113650 | CCTTGTGA others(5807): Show |
C | 2 | a0001c0003t0003g0012 a0001c0003t0003g0013 |
2 | HG02145.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.662+5650_663-10223 others(3): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92113650 | |||||||
| chr1:92113749 | A | G | 2 | a0007c0008t0001g0143 a0007c0008t0001g0144 |
2 | HG02109.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.662+5748A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92113749 | |||||||
| chr1:92113785 | G | A | 1 | a0002c0002t0001g0132 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.662+5784G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92113785 | |||||||
| chr1:92113787 | C | T | 1 | a0001c0001t0001g0044 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.662+5786C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92113787 | |||||||
| chr1:92113828 | C | T | 2 | a0007c0008t0001g0143 a0007c0008t0001g0144 |
2 | HG02109.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.662+5827C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92113828 | |||||||
| chr1:92113943 | C | T | 82 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(79): Show |
86 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(83): Show |
intron_variant | MODIFIER | c.662+5942C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92113943 | |||||||
| chr1:92114011 | CA | C | 84 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(81): Show |
87 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(84): Show |
intron_variant | MODIFIER | c.662+6029delA | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | 92114011 | ||||||
| chr1:92114011 | CAA | C | 9 | a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 others(6): Show |
9 | HG01109.hp1 HG02258.hp2 HG02280.hp2 others(6): Show |
intron_variant | MODIFIER | c.662+6028_662+6029d others(4): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | 92114011 | ||||||
| chr1:92114118 | G | A | 73 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(70): Show |
76 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(73): Show |
intron_variant | MODIFIER | c.662+6117G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92114118 | |||||||
| chr1:92114247 | G | C | 1 | a0002c0002t0001g0042 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.662+6246G>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92114247 | |||||||
| chr1:92115251 | C | T | 1 | a0001c0001t0001g0104 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.662+7250C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92115251 | |||||||
| chr1:92115269 | G | A | 2 | a0006c0011t0001g0138 a0006c0011t0001g0142 |
2 | HG00140.hp1 HG00423.hp2 |
intron_variant | MODIFIER | c.662+7268G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92115269 | |||||||
| chr1:92115400 | C | T | 1 | a0001c0001t0001g0055 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.662+7399C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92115400 | |||||||
| chr1:92115482 | G | A | 1 | a0001c0001t0001g0079 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.662+7481G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92115482 | |||||||
| chr1:92115607 | C | T | 1 | a0001c0003t0001g0027 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.662+7606C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92115607 | |||||||
| chr1:92115622 | C | G | 2 | a0001c0003t0001g0005 a0001c0003t0001g0027 |
2 | HG02723.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.662+7621C>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92115622 | |||||||
| chr1:92115628 | G | A | 1 | a0001c0003t0002g0025 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.662+7627G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92115628 | |||||||
| chr1:92115842 | G | A | 7 | a0001c0001t0001g0006 a0001c0009t0001g0040 a0001c0009t0001g0041 others(4): Show |
7 | HG01069.hp2 HG01884.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.662+7841G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92115842 | |||||||
| chr1:92116187 | G | T | 73 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(70): Show |
76 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(73): Show |
intron_variant | MODIFIER | c.662+8186G>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92116187 | |||||||
| chr1:92116261 | T | C | 73 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(70): Show |
76 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(73): Show |
intron_variant | MODIFIER | c.662+8260T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92116261 | |||||||
| chr1:92116571 | T | A | 1 | a0001c0001t0001g0081 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.662+8570T>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92116571 | |||||||
| chr1:92116606 | G | C | 13 | a0001c0001t0001g0004 a0001c0003t0001g0030 a0001c0003t0001g0031 others(10): Show |
13 | HG01081.hp2 HG02109.hp1 HG02109.hp2 others(10): Show |
intron_variant | MODIFIER | c.662+8605G>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92116606 | |||||||
| chr1:92116857 | C | CT | 4 | a0001c0001t0001g0004 a0001c0001t0001g0093 a0001c0001t0001g0106 others(1): Show |
5 | HG03195.hp2 HG03471.hp1 HG04115.hp1 others(2): Show |
intron_variant | MODIFIER | c.662+8869dupT | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | 92116857 | ||||||
| chr1:92116857 | CT | C | 18 | a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 others(15): Show |
18 | HG00140.hp1 HG00423.hp2 HG01081.hp2 others(15): Show |
intron_variant | MODIFIER | c.662+8869delT | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | 92116857 | ||||||
| chr1:92116871 | A | T | 79 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(76): Show |
82 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(79): Show |
intron_variant | MODIFIER | c.662+8870A>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92116871 | |||||||
| chr1:92117017 | T | C | 1 | a0004c0007t0001g0153 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.662+9016T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92117017 | |||||||
| chr1:92117118 | G | T | 1 | a0009c0015t0001g0028 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.662+9117G>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92117118 | |||||||
| chr1:92117119 | G | C | 2 | a0001c0003t0001g0005 a0001c0003t0001g0027 |
2 | HG02723.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.662+9118G>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92117119 | |||||||
| chr1:92117352 | AG | A | 79 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(76): Show |
82 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(79): Show |
intron_variant | MODIFIER | c.662+9353delG | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | 92117352 | ||||||
| chr1:92117357 | T | A | 1 | a0001c0001t0001g0075 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.662+9356T>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92117357 | |||||||
| chr1:92117366 | G | A | 1 | a0001c0001t0001g0075 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.662+9365G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92117366 | |||||||
| chr1:92117827 | G | A | 1 | a0001c0001t0001g0073 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.662+9826G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92117827 | |||||||
| chr1:92117900 | A | G | 8 | a0001c0001t0002g0023 a0003c0004t0001g0026 a0003c0004t0002g0001 others(5): Show |
9 | HG01109.hp1 HG01891.hp1 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.662+9899A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92117900 | |||||||
| chr1:92118119 | A | G | 4 | a0001c0003t0001g0043 a0001c0003t0001g0089 a0001c0003t0001g0090 others(1): Show |
4 | HG01081.hp2 HG02109.hp2 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.662+10118A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92118119 | |||||||
| chr1:92118165 | T | G | 4 | a0001c0003t0001g0043 a0001c0003t0001g0089 a0001c0003t0001g0090 others(1): Show |
4 | HG01081.hp2 HG02109.hp2 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.662+10164T>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92118165 | |||||||
| chr1:92118181 | A | G | 13 | a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 others(10): Show |
13 | HG01081.hp2 HG02109.hp1 HG02109.hp2 others(10): Show |
intron_variant | MODIFIER | c.662+10180A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92118181 | |||||||
| chr1:92118187 | C | T | 1 | a0001c0001t0001g0004 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.662+10186C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92118187 | |||||||
| chr1:92118282 | CT | C | 5 | a0001c0003t0002g0025 a0002c0002t0001g0118 a0002c0002t0001g0119 others(2): Show |
5 | HG01069.hp1 HG01070.hp2 HG02698.hp2 others(2): Show |
intron_variant | MODIFIER | c.662+10301delT | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | 92118282 | ||||||
| chr1:92118282 | CTTTT | C | 76 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(73): Show |
79 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(76): Show |
intron_variant | MODIFIER | c.662+10298_662+1030 others(8): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | 92118282 | ||||||
| chr1:92118505 | T | TGAC | 4 | a0001c0003t0001g0043 a0001c0003t0001g0089 a0001c0003t0001g0090 others(1): Show |
4 | HG01081.hp2 HG02109.hp2 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.662+10505_662+1050 others(7): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | 92118505 | ||||||
| chr1:92118594 | G | A | 2 | a0006c0011t0001g0138 a0006c0011t0001g0142 |
2 | HG00140.hp1 HG00423.hp2 |
intron_variant | MODIFIER | c.662+10593G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92118594 | |||||||
| chr1:92118738 | A | G | 2 | a0007c0008t0001g0143 a0007c0008t0001g0144 |
2 | HG02109.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.662+10737A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92118738 | |||||||
| chr1:92118803 | C | CTTT | 5 | a0005c0006t0001g0037 a0005c0006t0001g0039 a0006c0011t0001g0138 others(2): Show |
5 | HG00140.hp1 HG00423.hp2 HG01884.hp1 others(2): Show |
intron_variant | MODIFIER | c.662+10817_662+1081 others(7): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | 92118803 | ||||||
| chr1:92118803 | C | CTTTT | 63 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0044 others(60): Show |
65 | HG00280.hp1 HG00423.hp1 HG00438.hp1 others(62): Show |
intron_variant | MODIFIER | c.662+10816_662+1081 others(8): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | 92118803 | ||||||
| chr1:92118803 | C | CTTTTT | 35 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0034 others(32): Show |
37 | HG00099.hp1 HG00140.hp2 HG00408.hp2 others(34): Show |
intron_variant | MODIFIER | c.662+10815_662+1081 others(9): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | 92118803 | ||||||
| chr1:92118803 | C | CTTTTTT | 5 | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0003t0001g0005 others(2): Show |
5 | HG02572.hp2 HG02723.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.662+10814_662+1081 others(10): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | 92118803 | ||||||
| chr1:92118902 | C | CTG | 79 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(76): Show |
82 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(79): Show |
intron_variant | MODIFIER | c.663-10769_663-1076 others(6): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | 92118902 | ||||||
| chr1:92118962 | A | G | 79 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(76): Show |
82 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(79): Show |
intron_variant | MODIFIER | c.663-10725A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92118962 | |||||||
| chr1:92119001 | A | G | 1 | a0001c0001t0001g0034 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.663-10686A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92119001 | |||||||
| chr1:92119038 | G | A | 4 | a0004c0007t0001g0150 a0004c0007t0001g0151 a0004c0007t0001g0153 others(1): Show |
4 | HG01123.hp2 HG01175.hp1 HG03492.hp1 others(1): Show |
intron_variant | MODIFIER | c.663-10649G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92119038 | |||||||
| chr1:92119279 | CTTTTTTT others(8): Show |
C | 1 | a0002c0002t0001g0042 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.663-10400_663-1038 others(19): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | 92119279 | ||||||
| chr1:92119384 | C | T | 8 | a0001c0001t0002g0023 a0003c0004t0001g0026 a0003c0004t0002g0001 others(5): Show |
9 | HG01109.hp1 HG01891.hp1 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.663-10303C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92119384 | |||||||
| chr1:92119509 | C | T | 1 | a0003c0005t0001g0110 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.663-10178C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92119509 | |||||||
| chr1:92119632 | C | CT | 26 | a0001c0001t0001g0003 a0001c0001t0001g0034 a0001c0001t0001g0050 others(23): Show |
27 | HG00099.hp1 HG00140.hp2 HG01081.hp1 others(24): Show |
intron_variant | MODIFIER | c.663-10043dupT | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | 92119632 | ||||||
| chr1:92119632 | CT | C | 8 | a0001c0001t0002g0023 a0003c0004t0001g0026 a0003c0004t0002g0001 others(5): Show |
9 | HG01109.hp1 HG01891.hp1 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.663-10043delT | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | 92119632 | ||||||
| chr1:92119707 | A | T | 1 | a0003c0005t0001g0110 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.663-9980A>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92119707 | |||||||
| chr1:92119743 | C | T | 1 | a0001c0001t0001g0113 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.663-9944C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92119743 | |||||||
| chr1:92119884 | G | A | 1 | a0001c0001t0001g0064 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.663-9803G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92119884 | |||||||
| chr1:92119893 | C | CT | 7 | a0001c0003t0001g0133 a0001c0003t0004g0019 a0001c0003t0004g0020 others(4): Show |
7 | HG01175.hp1 HG01981.hp1 HG02257.hp1 others(4): Show |
intron_variant | MODIFIER | c.663-9769dupT | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | 92119893 | ||||||
| chr1:92119893 | CT | C | 8 | a0001c0001t0001g0052 a0001c0001t0001g0074 a0001c0001t0001g0075 others(5): Show |
8 | HG01891.hp2 HG02723.hp2 HG03098.hp1 others(5): Show |
intron_variant | MODIFIER | c.663-9769delT | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | 92119893 | ||||||
| chr1:92119893 | CTT | C | 88 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(85): Show |
92 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(89): Show |
intron_variant | MODIFIER | c.663-9770_663-9769d others(4): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | 92119893 | ||||||
| chr1:92119893 | CTTTTTTT others(4): Show |
C | 11 | a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 others(8): Show |
11 | HG01081.hp2 HG02109.hp2 HG02258.hp2 others(8): Show |
intron_variant | MODIFIER | c.663-9779_663-9769d others(13): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | 92119893 | ||||||
| chr1:92119904 | T | C | 2 | a0001c0001t0001g0003 a0001c0001t0001g0082 |
3 | HG03491.hp2 HG03492.hp2 NA18970.hp1 |
intron_variant | MODIFIER | c.663-9783T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92119904 | |||||||
| chr1:92119946 | G | T | 1 | a0001c0001t0001g0073 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.663-9741G>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92119946 | |||||||
| chr1:92120160 | A | G | 4 | a0001c0003t0003g0012 a0001c0003t0003g0013 a0006c0011t0001g0138 others(1): Show |
4 | HG00140.hp1 HG00423.hp2 HG02145.hp2 others(1): Show |
intron_variant | MODIFIER | c.663-9527A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92120160 | |||||||
| chr1:92120274 | C | G | 72 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(69): Show |
75 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(72): Show |
intron_variant | MODIFIER | c.663-9413C>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92120274 | |||||||
| chr1:92120308 | A | G | 2 | a0001c0003t0001g0005 a0001c0003t0001g0027 |
2 | HG02723.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.663-9379A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92120308 | |||||||
| chr1:92120391 | T | C | 8 | a0001c0001t0002g0023 a0003c0004t0001g0026 a0003c0004t0002g0001 others(5): Show |
9 | HG01109.hp1 HG01891.hp1 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.663-9296T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92120391 | |||||||
| chr1:92120571 | T | C | 4 | a0001c0003t0003g0012 a0001c0003t0003g0013 a0006c0011t0001g0138 others(1): Show |
4 | HG00140.hp1 HG00423.hp2 HG02145.hp2 others(1): Show |
intron_variant | MODIFIER | c.663-9116T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92120571 | |||||||
| chr1:92120659 | A | G | 1 | a0009c0015t0001g0028 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.663-9028A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92120659 | |||||||
| chr1:92120895 | T | C | 1 | a0001c0001t0001g0079 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.663-8792T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92120895 | |||||||
| chr1:92120951 | C | A | 4 | a0003c0005t0003g0008 a0003c0005t0003g0009 a0003c0005t0003g0010 others(1): Show |
4 | HG02280.hp2 NA19030.hp2 NA19043.hp2 others(1): Show |
intron_variant | MODIFIER | c.663-8736C>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92120951 | |||||||
| chr1:92121469 | T | C | 1 | a0001c0001t0001g0065 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.663-8218T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92121469 | |||||||
| chr1:92121496 | C | A | 3 | a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 |
3 | HG02258.hp2 HG03041.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.663-8191C>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92121496 | |||||||
| chr1:92121527 | C | T | 1 | a0001c0001t0001g0103 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.663-8160C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92121527 | |||||||
| chr1:92121626 | T | G | 111 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(108): Show |
115 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(112): Show |
intron_variant | MODIFIER | c.663-8061T>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92121626 | |||||||
| chr1:92121676 | A | G | 72 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(69): Show |
75 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(72): Show |
intron_variant | MODIFIER | c.663-8011A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92121676 | |||||||
| chr1:92121698 | A | G | 7 | a0001c0001t0001g0006 a0001c0009t0001g0040 a0001c0009t0001g0041 others(4): Show |
7 | HG01069.hp2 HG01884.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.663-7989A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92121698 | |||||||
| chr1:92121713 | A | G | 88 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(85): Show |
92 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(89): Show |
intron_variant | MODIFIER | c.663-7974A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92121713 | |||||||
| chr1:92121759 | A | C | 2 | a0010c0012t0001g0105 a0011c0014t0001g0112 |
2 | HG03130.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.663-7928A>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92121759 | |||||||
| chr1:92121833 | ATTTTTTT others(6): Show |
A | 2 | a0007c0008t0001g0143 a0007c0008t0001g0144 |
2 | HG02109.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.663-7846_663-7834d others(15): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | 92121833 | ||||||
| chr1:92121846 | T | A | 1 | a0001c0001t0001g0096 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.663-7841T>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92121846 | |||||||
| chr1:92121847 | T | A | 12 | a0001c0003t0001g0027 a0001c0003t0001g0030 a0001c0003t0001g0031 others(9): Show |
12 | HG01081.hp2 HG02109.hp2 HG02258.hp2 others(9): Show |
intron_variant | MODIFIER | c.663-7840T>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92121847 | |||||||
| chr1:92121848 | T | A | 3 | a0001c0009t0001g0040 a0001c0009t0001g0041 a0002c0002t0001g0042 |
3 | HG02622.hp2 HG03453.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.663-7839T>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92121848 | |||||||
| chr1:92122014 | T | G | 8 | a0001c0001t0002g0023 a0003c0004t0001g0026 a0003c0004t0002g0001 others(5): Show |
9 | HG01109.hp1 HG01891.hp1 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.663-7673T>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92122014 | |||||||
| chr1:92122116 | C | T | 3 | a0001c0001t0001g0049 a0001c0001t0001g0076 a0001c0001t0001g0077 |
3 | HG02615.hp1 HG02896.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.663-7571C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92122116 | |||||||
| chr1:92122130 | G | A | 88 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(85): Show |
92 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(89): Show |
intron_variant | MODIFIER | c.663-7557G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92122130 | |||||||
| chr1:92122264 | TA | T | 3 | a0001c0001t0001g0094 a0001c0001t0002g0023 a0001c0001t0002g0024 |
3 | HG00438.hp1 HG02615.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.663-7422delA | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92122264 | |||||||
| chr1:92122265 | A | T | 1 | a0002c0002t0001g0121 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.663-7422A>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92122265 | |||||||
| chr1:92122265 | AT | A | 108 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(105): Show |
112 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(109): Show |
intron_variant | MODIFIER | c.663-7410delT | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | 92122265 | ||||||
| chr1:92122269 | T | A | 7 | a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 others(4): Show |
7 | HG02258.hp2 HG02280.hp2 HG03041.hp2 others(4): Show |
intron_variant | MODIFIER | c.663-7418T>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92122269 | |||||||
| chr1:92122344 | C | T | 4 | a0001c0003t0004g0019 a0001c0003t0004g0020 a0001c0003t0004g0021 others(1): Show |
4 | HG02257.hp1 HG02451.hp1 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.663-7343C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92122344 | |||||||
| chr1:92122481 | T | A | 11 | a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 others(8): Show |
11 | HG01081.hp2 HG02109.hp2 HG02258.hp2 others(8): Show |
intron_variant | MODIFIER | c.663-7206T>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92122481 | |||||||
| chr1:92122537 | G | A | 1 | a0003c0004t0001g0026 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.663-7150G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92122537 | |||||||
| chr1:92122537 | G | C | 20 | a0001c0001t0001g0003 a0001c0001t0001g0034 a0001c0001t0001g0050 others(17): Show |
21 | HG00099.hp1 HG00140.hp2 HG01081.hp1 others(18): Show |
intron_variant | MODIFIER | c.663-7150G>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92122537 | |||||||
| chr1:92122622 | G | A | 2 | a0001c0003t0001g0005 a0001c0003t0001g0027 |
2 | HG02723.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.663-7065G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92122622 | |||||||
| chr1:92123130 | C | T | 1 | a0002c0002t0001g0137 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.663-6557C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92123130 | |||||||
| chr1:92123162 | G | A | 5 | a0001c0001t0001g0107 a0001c0001t0001g0108 a0003c0005t0001g0110 others(2): Show |
5 | HG02572.hp1 HG03130.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.663-6525G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92123162 | |||||||
| chr1:92123436 | T | A | 88 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(85): Show |
92 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(89): Show |
intron_variant | MODIFIER | c.663-6251T>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92123436 | |||||||
| chr1:92123552 | T | C | 2 | a0005c0006t0001g0033 a0005c0006t0001g0039 |
2 | HG02922.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.663-6135T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92123552 | |||||||
| chr1:92123726 | A | G | 117 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(114): Show |
121 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(118): Show |
intron_variant | MODIFIER | c.663-5961A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92123726 | |||||||
| chr1:92123735 | C | G | 1 | a0001c0001t0001g0084 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.663-5952C>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92123735 | |||||||
| chr1:92123776 | C | CA | 94 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(91): Show |
97 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(94): Show |
intron_variant | MODIFIER | c.663-5891dupA | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | 92123776 | ||||||
| chr1:92123776 | C | CAA | 15 | a0001c0001t0001g0057 a0001c0001t0001g0073 a0001c0001t0001g0074 others(12): Show |
16 | HG01109.hp1 HG01891.hp1 HG01891.hp2 others(13): Show |
intron_variant | MODIFIER | c.663-5892_663-5891d others(4): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | 92123776 | ||||||
| chr1:92123807 | A | G | 2 | a0010c0012t0001g0105 a0011c0014t0001g0112 |
2 | HG03130.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.663-5880A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92123807 | |||||||
| chr1:92123954 | G | A | 79 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(76): Show |
82 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(79): Show |
intron_variant | MODIFIER | c.663-5733G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92123954 | |||||||
| chr1:92124019 | T | C | 1 | a0009c0015t0001g0028 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.663-5668T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92124019 | |||||||
| chr1:92124251 | A | G | 13 | a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 others(10): Show |
13 | HG01081.hp2 HG02109.hp1 HG02109.hp2 others(10): Show |
intron_variant | MODIFIER | c.663-5436A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92124251 | |||||||
| chr1:92124461 | G | A | 1 | a0001c0001t0001g0101 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.663-5226G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92124461 | |||||||
| chr1:92124541 | A | G | 4 | a0001c0001t0001g0049 a0001c0001t0001g0065 a0001c0001t0001g0076 others(1): Show |
4 | HG02615.hp1 HG02896.hp1 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.663-5146A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92124541 | |||||||
| chr1:92124809 | A | C | 4 | a0001c0003t0001g0043 a0001c0003t0001g0089 a0001c0003t0001g0090 others(1): Show |
4 | HG01081.hp2 HG02109.hp2 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.663-4878A>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92124809 | |||||||
| chr1:92124810 | T | C | 2 | a0001c0001t0001g0081 a0001c0001t0001g0085 |
2 | HG02258.hp1 HG02698.hp1 |
intron_variant | MODIFIER | c.663-4877T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92124810 | |||||||
| chr1:92124847 | T | A | 1 | a0011c0014t0001g0112 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.663-4840T>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92124847 | |||||||
| chr1:92125256 | GA | G | 4 | a0003c0005t0003g0008 a0003c0005t0003g0009 a0003c0005t0003g0010 others(1): Show |
4 | HG02280.hp2 NA19030.hp2 NA19043.hp2 others(1): Show |
intron_variant | MODIFIER | c.663-4429delA | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | 92125256 | ||||||
| chr1:92125269 | A | G | 79 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(76): Show |
82 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(79): Show |
intron_variant | MODIFIER | c.663-4418A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92125269 | |||||||
| chr1:92125778 | A | G | 2 | a0010c0012t0001g0105 a0011c0014t0001g0112 |
2 | HG03130.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.663-3909A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92125778 | |||||||
| chr1:92125873 | T | C | 4 | a0003c0005t0003g0008 a0003c0005t0003g0009 a0003c0005t0003g0010 others(1): Show |
4 | HG02280.hp2 NA19030.hp2 NA19043.hp2 others(1): Show |
intron_variant | MODIFIER | c.663-3814T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92125873 | |||||||
| chr1:92126178 | A | C | 4 | a0001c0003t0001g0043 a0001c0003t0001g0089 a0001c0003t0001g0090 others(1): Show |
4 | HG01081.hp2 HG02109.hp2 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.663-3509A>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92126178 | |||||||
| chr1:92126332 | T | C | 2 | a0007c0008t0001g0143 a0007c0008t0001g0144 |
2 | HG02109.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.663-3355T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92126332 | |||||||
| chr1:92126359 | G | A | 88 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(85): Show |
92 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(89): Show |
intron_variant | MODIFIER | c.663-3328G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92126359 | |||||||
| chr1:92126506 | C | CGT | 111 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(108): Show |
115 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(112): Show |
intron_variant | MODIFIER | c.663-3181_663-3180i others(4): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92126506 | |||||||
| chr1:92126507 | T | A | 111 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(108): Show |
115 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(112): Show |
intron_variant | MODIFIER | c.663-3180T>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92126507 | |||||||
| chr1:92126613 | G | A | 11 | a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 others(8): Show |
11 | HG01081.hp2 HG02109.hp2 HG02258.hp2 others(8): Show |
intron_variant | MODIFIER | c.663-3074G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92126613 | |||||||
| chr1:92126665 | T | C | 88 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(85): Show |
92 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(89): Show |
intron_variant | MODIFIER | c.663-3022T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92126665 | |||||||
| chr1:92126667 | A | G | 1 | a0003c0005t0001g0110 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.663-3020A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92126667 | |||||||
| chr1:92127300 | C | T | 4 | a0001c0003t0004g0019 a0001c0003t0004g0020 a0001c0003t0004g0021 others(1): Show |
4 | HG02257.hp1 HG02451.hp1 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.663-2387C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92127300 | |||||||
| chr1:92127348 | C | A | 115 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(112): Show |
119 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(116): Show |
intron_variant | MODIFIER | c.663-2339C>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92127348 | |||||||
| chr1:92127372 | T | A | 1 | a0001c0001t0001g0066 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.663-2315T>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92127372 | |||||||
| chr1:92127418 | A | G | 1 | a0002c0002t0001g0131 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.663-2269A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92127418 | |||||||
| chr1:92127552 | TTTTG | T | 27 | a0001c0003t0001g0005 a0001c0003t0001g0027 a0001c0003t0001g0029 others(24): Show |
27 | HG00099.hp2 HG00140.hp1 HG00423.hp2 others(24): Show |
intron_variant | MODIFIER | c.663-2099_663-2096d others(6): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | 92127552 | ||||||
| chr1:92127552 | TTTTGTTT others(1): Show |
T | 87 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(84): Show |
90 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(87): Show |
intron_variant | MODIFIER | c.663-2103_663-2096d others(10): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | 92127552 | ||||||
| chr1:92127552 | TTTTGTTT others(5): Show |
T | 1 | a0009c0015t0001g0028 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.663-2107_663-2096d others(14): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | 92127552 | ||||||
| chr1:92127552 | TTTTGTTT others(9): Show |
T | 2 | a0001c0001t0001g0004 a0001c0001t0001g0147 |
3 | HG03195.hp2 HG03471.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.663-2111_663-2096d others(18): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | 92127552 | ||||||
| chr1:92127803 | C | T | 2 | a0010c0012t0001g0105 a0011c0014t0001g0112 |
2 | HG03130.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.663-1884C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92127803 | |||||||
| chr1:92127808 | GC | G | 8 | a0001c0001t0002g0023 a0003c0004t0001g0026 a0003c0004t0002g0001 others(5): Show |
9 | HG01109.hp1 HG01891.hp1 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.663-1877delC | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | 92127808 | ||||||
| chr1:92128020 | A | G | 2 | a0007c0008t0001g0143 a0007c0008t0001g0144 |
2 | HG02109.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.663-1667A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92128020 | |||||||
| chr1:92128052 | C | T | 2 | a0010c0012t0001g0105 a0011c0014t0001g0112 |
2 | HG03130.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.663-1635C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92128052 | |||||||
| chr1:92128076 | A | T | 1 | a0011c0014t0001g0112 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.663-1611A>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92128076 | |||||||
| chr1:92128171 | C | T | 31 | a0001c0001t0001g0003 a0001c0001t0001g0034 a0001c0001t0001g0050 others(28): Show |
32 | HG00099.hp1 HG00140.hp2 HG01081.hp1 others(29): Show |
intron_variant | MODIFIER | c.663-1516C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92128171 | |||||||
| chr1:92128172 | G | A | 4 | a0001c0003t0003g0012 a0001c0003t0003g0013 a0006c0011t0001g0138 others(1): Show |
4 | HG00140.hp1 HG00423.hp2 HG02145.hp2 others(1): Show |
intron_variant | MODIFIER | c.663-1515G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92128172 | |||||||
| chr1:92128270 | C | G | 13 | a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 others(10): Show |
13 | HG01081.hp2 HG02109.hp1 HG02109.hp2 others(10): Show |
intron_variant | MODIFIER | c.663-1417C>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92128270 | |||||||
| chr1:92128283 | AT | A | 15 | a0001c0001t0002g0023 a0001c0003t0001g0030 a0001c0003t0001g0031 others(12): Show |
16 | HG01891.hp1 HG01891.hp2 HG02258.hp2 others(13): Show |
intron_variant | MODIFIER | c.663-1391delT | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | 92128283 | ||||||
| chr1:92128348 | G | A | 1 | a0006c0011t0001g0142 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.663-1339G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92128348 | |||||||
| chr1:92128439 | C | T | 1 | a0002c0002t0001g0149 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.663-1248C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92128439 | |||||||
| chr1:92128567 | C | T | 1 | a0001c0001t0001g0053 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.663-1120C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92128567 | |||||||
| chr1:92128588 | A | AT | 8 | a0001c0003t0001g0043 a0001c0003t0001g0089 a0001c0003t0001g0090 others(5): Show |
8 | HG00140.hp1 HG00423.hp2 HG01081.hp2 others(5): Show |
intron_variant | MODIFIER | c.663-1088dupT | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | 92128588 | ||||||
| chr1:92128648 | G | A | 4 | a0001c0003t0004g0019 a0001c0003t0004g0020 a0001c0003t0004g0021 others(1): Show |
4 | HG02257.hp1 HG02451.hp1 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.663-1039G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92128648 | |||||||
| chr1:92128654 | A | G | 2 | a0001c0003t0002g0007 a0001c0003t0002g0025 |
2 | HG02922.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.663-1033A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92128654 | |||||||
| chr1:92128666 | C | T | 2 | a0001c0003t0001g0005 a0001c0003t0001g0027 |
2 | HG02723.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.663-1021C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92128666 | |||||||
| chr1:92128841 | C | G | 4 | a0001c0003t0004g0019 a0001c0003t0004g0020 a0001c0003t0004g0021 others(1): Show |
4 | HG02257.hp1 HG02451.hp1 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.663-846C>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92128841 | |||||||
| chr1:92128881 | G | C | 1 | a0009c0015t0001g0028 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.663-806G>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92128881 | |||||||
| chr1:92128901 | T | C | 4 | a0001c0003t0001g0043 a0001c0003t0001g0089 a0001c0003t0001g0090 others(1): Show |
4 | HG01081.hp2 HG02109.hp2 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.663-786T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92128901 | |||||||
| chr1:92129108 | A | T | 3 | a0001c0001t0001g0049 a0001c0001t0001g0076 a0001c0001t0001g0077 |
3 | HG02615.hp1 HG02896.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.663-579A>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92129108 | |||||||
| chr1:92129131 | T | C | 1 | a0006c0011t0001g0138 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.663-556T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92129131 | |||||||
| chr1:92129247 | C | T | 8 | a0001c0001t0002g0023 a0003c0004t0001g0026 a0003c0004t0002g0001 others(5): Show |
9 | HG01109.hp1 HG01891.hp1 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.663-440C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92129247 | |||||||
| chr1:92129343 | G | A | 4 | a0001c0003t0004g0019 a0001c0003t0004g0020 a0001c0003t0004g0021 others(1): Show |
4 | HG02257.hp1 HG02451.hp1 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.663-344G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92129343 | |||||||
| chr1:92129442 | C | T | 2 | a0001c0003t0001g0005 a0001c0003t0001g0027 |
2 | HG02723.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.663-245C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92129442 | |||||||
| chr1:92129491 | AC | A | 2 | a0001c0003t0003g0012 a0001c0003t0003g0013 |
2 | HG02145.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.663-195delC | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | 92129491 | |||||||
| chr1:92129945 | A | G | 2 | a0001c0003t0002g0007 a0001c0003t0002g0025 |
2 | HG02922.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.752+169A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92129945 | |||||||
| chr1:92130201 | G | A | 4 | a0001c0003t0004g0019 a0001c0003t0004g0020 a0001c0003t0004g0021 others(1): Show |
4 | HG02257.hp1 HG02451.hp1 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.752+425G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92130201 | |||||||
| chr1:92130428 | A | G | 19 | a0001c0001t0001g0003 a0001c0001t0001g0034 a0001c0001t0001g0050 others(16): Show |
20 | HG00099.hp1 HG00140.hp2 HG01081.hp1 others(17): Show |
intron_variant | MODIFIER | c.752+652A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92130428 | |||||||
| chr1:92130520 | AT | A | 96 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(93): Show |
99 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(96): Show |
intron_variant | MODIFIER | c.752+745delT | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92130520 | |||||||
| chr1:92130521 | T | A | 22 | a0001c0001t0002g0023 a0001c0003t0001g0005 a0001c0003t0001g0027 others(19): Show |
23 | HG01081.hp2 HG01109.hp1 HG01346.hp1 others(20): Show |
intron_variant | MODIFIER | c.752+745T>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92130521 | |||||||
| chr1:92130523 | T | A | 101 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(98): Show |
105 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(102): Show |
intron_variant | MODIFIER | c.752+747T>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92130523 | |||||||
| chr1:92130525 | T | A | 3 | a0001c0003t0001g0029 a0001c0003t0002g0007 a0001c0003t0002g0025 |
3 | HG02922.hp1 HG03195.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.752+749T>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92130525 | |||||||
| chr1:92130529 | T | A | 1 | a0001c0001t0001g0095 | 1 | NA19012.hp2 | intron_variant | MODIFIER | c.752+753T>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92130529 | |||||||
| chr1:92130539 | T | TAC | 20 | a0001c0001t0001g0046 a0001c0001t0001g0058 a0001c0001t0001g0059 others(17): Show |
20 | HG00280.hp1 HG01070.hp1 HG01070.hp2 others(17): Show |
intron_variant | MODIFIER | c.752+791_752+792dup others(2): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | 92130539 | ||||||
| chr1:92130539 | T | TACAC | 3 | a0003c0005t0001g0110 a0010c0012t0001g0105 a0011c0014t0001g0112 |
3 | HG03130.hp1 HG03225.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.752+789_752+792dup others(4): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | 92130539 | ||||||
| chr1:92130539 | T | TACACACA others(1): Show |
3 | a0001c0003t0001g0089 a0001c0003t0001g0090 a0001c0003t0001g0091 |
3 | HG02109.hp2 HG02723.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.752+785_752+792dup others(8): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | 92130539 | ||||||
| chr1:92130539 | T | TACACACA others(3): Show |
8 | a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 others(5): Show |
8 | HG01081.hp2 HG02258.hp2 HG02280.hp2 others(5): Show |
intron_variant | MODIFIER | c.752+783_752+792dup others(10): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | 92130539 | ||||||
| chr1:92130539 | TAC | T | 3 | a0002c0002t0001g0117 a0002c0002t0001g0130 a0005c0006t0001g0037 |
3 | HG01168.hp1 HG01169.hp2 HG01884.hp1 |
intron_variant | MODIFIER | c.752+791_752+792del others(2): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | 92130539 | ||||||
| chr1:92130559 | C | A | 2 | a0001c0003t0003g0012 a0001c0003t0003g0013 |
2 | HG02145.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.752+783C>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92130559 | |||||||
| chr1:92130567 | CAT | C | 17 | a0001c0001t0001g0003 a0001c0001t0001g0034 a0001c0001t0001g0050 others(14): Show |
18 | HG00099.hp1 HG00140.hp2 HG01081.hp1 others(15): Show |
intron_variant | MODIFIER | c.752+795_752+796del others(2): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | 92130567 | ||||||
| chr1:92130569 | T | C | 1 | a0001c0001t0001g0085 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.752+793T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92130569 | |||||||
| chr1:92130644 | G | T | 1 | a0001c0003t0001g0029 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.752+868G>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92130644 | |||||||
| chr1:92130843 | C | T | 1 | a0011c0014t0001g0112 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.752+1067C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92130843 | |||||||
| chr1:92130851 | C | T | 2 | a0001c0003t0001g0005 a0001c0003t0001g0027 |
2 | HG02723.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.752+1075C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92130851 | |||||||
| chr1:92130852 | G | A | 3 | a0001c0001t0001g0072 a0010c0012t0001g0105 a0011c0014t0001g0112 |
3 | HG01256.hp1 HG03130.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.752+1076G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92130852 | |||||||
| chr1:92131007 | G | A | 1 | a0001c0001t0001g0067 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.752+1231G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92131007 | |||||||
| chr1:92131019 | A | T | 1 | a0001c0001t0001g0075 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.752+1243A>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92131019 | |||||||
| chr1:92131324 | A | G | 3 | a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 |
3 | HG02258.hp2 HG03041.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.752+1548A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92131324 | |||||||
| chr1:92131446 | G | A | 2 | a0001c0001t0001g0107 a0001c0001t0001g0108 |
2 | HG02572.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.752+1670G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92131446 | |||||||
| chr1:92131453 | G | A | 17 | a0001c0001t0002g0023 a0001c0003t0001g0030 a0001c0003t0001g0031 others(14): Show |
18 | HG01109.hp1 HG01891.hp1 HG02109.hp1 others(15): Show |
intron_variant | MODIFIER | c.752+1677G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92131453 | |||||||
| chr1:92131536 | C | T | 79 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(76): Show |
82 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(79): Show |
intron_variant | MODIFIER | c.752+1760C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92131536 | |||||||
| chr1:92131723 | C | CA | 12 | a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0058 others(9): Show |
12 | HG01123.hp1 HG01192.hp1 HG02572.hp1 others(9): Show |
intron_variant | MODIFIER | c.752+1963dupA | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | 92131723 | ||||||
| chr1:92131723 | C | CAA | 17 | a0001c0001t0002g0023 a0001c0003t0001g0030 a0001c0003t0001g0031 others(14): Show |
18 | HG01109.hp1 HG01891.hp1 HG02109.hp1 others(15): Show |
intron_variant | MODIFIER | c.752+1962_752+1963d others(4): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | 92131723 | ||||||
| chr1:92131787 | G | C | 80 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(77): Show |
83 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(80): Show |
intron_variant | MODIFIER | c.752+2011G>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92131787 | |||||||
| chr1:92131980 | G | T | 1 | a0001c0001t0001g0054 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.752+2204G>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92131980 | |||||||
| chr1:92131999 | C | T | 17 | a0001c0001t0002g0023 a0001c0003t0001g0030 a0001c0003t0001g0031 others(14): Show |
18 | HG01109.hp1 HG01891.hp1 HG02109.hp1 others(15): Show |
intron_variant | MODIFIER | c.752+2223C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92131999 | |||||||
| chr1:92132001 | G | C | 80 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(77): Show |
83 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(80): Show |
intron_variant | MODIFIER | c.752+2225G>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92132001 | |||||||
| chr1:92132002 | A | G | 4 | a0001c0003t0004g0019 a0001c0003t0004g0020 a0001c0003t0004g0021 others(1): Show |
4 | HG02257.hp1 HG02451.hp1 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.752+2226A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92132002 | |||||||
| chr1:92132355 | C | G | 1 | a0001c0001t0001g0006 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.752+2579C>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92132355 | |||||||
| chr1:92132701 | A | C | 113 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(110): Show |
117 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(114): Show |
intron_variant | MODIFIER | c.752+2925A>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92132701 | |||||||
| chr1:92132964 | A | G | 1 | a0006c0011t0001g0138 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.752+3188A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92132964 | |||||||
| chr1:92132997 | T | C | 20 | a0001c0001t0001g0003 a0001c0001t0001g0034 a0001c0001t0001g0050 others(17): Show |
21 | HG00099.hp1 HG00140.hp2 HG01081.hp1 others(18): Show |
intron_variant | MODIFIER | c.752+3221T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92132997 | |||||||
| chr1:92133048 | A | G | 1 | a0003c0004t0001g0026 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.752+3272A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92133048 | |||||||
| chr1:92133078 | A | T | 1 | a0009c0015t0001g0028 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.752+3302A>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92133078 | |||||||
| chr1:92133148 | T | C | 80 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(77): Show |
83 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(80): Show |
intron_variant | MODIFIER | c.752+3372T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92133148 | |||||||
| chr1:92133250 | T | A | 80 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(77): Show |
83 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(80): Show |
intron_variant | MODIFIER | c.752+3474T>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92133250 | |||||||
| chr1:92133258 | T | A | 1 | a0010c0012t0001g0105 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.752+3482T>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92133258 | |||||||
| chr1:92133301 | A | G | 1 | a0001c0003t0001g0091 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.752+3525A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92133301 | |||||||
| chr1:92133390 | A | G | 2 | a0001c0003t0001g0005 a0001c0003t0001g0027 |
2 | HG02723.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.752+3614A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92133390 | |||||||
| chr1:92133417 | G | T | 1 | a0009c0015t0001g0028 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.752+3641G>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92133417 | |||||||
| chr1:92133615 | T | A | 34 | a0001c0001t0001g0004 a0001c0001t0001g0044 a0001c0001t0001g0046 others(31): Show |
35 | HG00280.hp1 HG00408.hp2 HG00423.hp1 others(32): Show |
intron_variant | MODIFIER | c.752+3839T>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92133615 | |||||||
| chr1:92133709 | G | A | 1 | a0001c0001t0001g0098 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.752+3933G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92133709 | |||||||
| chr1:92133723 | C | G | 1 | a0011c0014t0001g0112 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.752+3947C>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92133723 | |||||||
| chr1:92133740 | G | A | 1 | a0001c0001t0001g0048 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.752+3964G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92133740 | |||||||
| chr1:92133763 | G | A | 2 | a0001c0003t0001g0005 a0001c0003t0001g0027 |
2 | HG02723.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.752+3987G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92133763 | |||||||
| chr1:92133766 | C | T | 1 | a0001c0003t0001g0029 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.752+3990C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92133766 | |||||||
| chr1:92133767 | G | T | 79 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(76): Show |
82 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(79): Show |
intron_variant | MODIFIER | c.752+3991G>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92133767 | |||||||
| chr1:92133827 | G | A | 2 | a0010c0012t0001g0105 a0011c0014t0001g0112 |
2 | HG03130.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.752+4051G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92133827 | |||||||
| chr1:92133914 | G | A | 1 | a0001c0001t0001g0051 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.752+4138G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92133914 | |||||||
| chr1:92133969 | C | CA | 79 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(76): Show |
82 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(79): Show |
intron_variant | MODIFIER | c.752+4206dupA | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | 92133969 | ||||||
| chr1:92134129 | GAAGGAAC others(1): Show |
G | 80 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(77): Show |
83 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(80): Show |
intron_variant | MODIFIER | c.752+4354_752+4361d others(10): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92134129 | |||||||
| chr1:92134138 | C | T | 80 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(77): Show |
83 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(80): Show |
intron_variant | MODIFIER | c.752+4362C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92134138 | |||||||
| chr1:92134139 | C | T | 80 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(77): Show |
83 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(80): Show |
intron_variant | MODIFIER | c.752+4363C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92134139 | |||||||
| chr1:92134140 | A | T | 80 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(77): Show |
83 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(80): Show |
intron_variant | MODIFIER | c.752+4364A>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92134140 | |||||||
| chr1:92134197 | A | G | 4 | a0001c0003t0003g0012 a0001c0003t0003g0013 a0006c0011t0001g0138 others(1): Show |
4 | HG00140.hp1 HG00423.hp2 HG02145.hp2 others(1): Show |
intron_variant | MODIFIER | c.752+4421A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92134197 | |||||||
| chr1:92134327 | T | G | 1 | a0001c0001t0001g0095 | 1 | NA19012.hp2 | intron_variant | MODIFIER | c.752+4551T>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92134327 | |||||||
| chr1:92134369 | A | G | 1 | a0001c0003t0001g0091 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.752+4593A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92134369 | |||||||
| chr1:92134462 | T | G | 11 | a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 others(8): Show |
11 | HG01081.hp2 HG02109.hp2 HG02258.hp2 others(8): Show |
intron_variant | MODIFIER | c.752+4686T>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92134462 | |||||||
| chr1:92134528 | C | T | 4 | a0001c0003t0004g0019 a0001c0003t0004g0020 a0001c0003t0004g0021 others(1): Show |
4 | HG02257.hp1 HG02451.hp1 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.752+4752C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92134528 | |||||||
| chr1:92134533 | A | G | 115 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(112): Show |
119 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(116): Show |
intron_variant | MODIFIER | c.752+4757A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92134533 | |||||||
| chr1:92134552 | A | T | 1 | a0001c0001t0001g0104 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.752+4776A>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92134552 | |||||||
| chr1:92134615 | A | G | 4 | a0001c0003t0004g0019 a0001c0003t0004g0020 a0001c0003t0004g0021 others(1): Show |
4 | HG02257.hp1 HG02451.hp1 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.753-4735A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92134615 | |||||||
| chr1:92134626 | C | G | 80 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(77): Show |
83 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(80): Show |
intron_variant | MODIFIER | c.753-4724C>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92134626 | |||||||
| chr1:92134682 | C | A | 7 | a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 others(4): Show |
7 | HG02258.hp2 HG02280.hp2 HG03041.hp2 others(4): Show |
intron_variant | MODIFIER | c.753-4668C>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92134682 | |||||||
| chr1:92134708 | A | G | 6 | a0001c0001t0001g0070 a0001c0001t0001g0098 a0001c0003t0003g0012 others(3): Show |
6 | HG00140.hp1 HG00423.hp2 HG02145.hp2 others(3): Show |
intron_variant | MODIFIER | c.753-4642A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92134708 | |||||||
| chr1:92134770 | T | C | 7 | a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 others(4): Show |
7 | HG02258.hp2 HG02280.hp2 HG03041.hp2 others(4): Show |
intron_variant | MODIFIER | c.753-4580T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92134770 | |||||||
| chr1:92134816 | G | T | 1 | a0001c0003t0001g0091 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.753-4534G>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92134816 | |||||||
| chr1:92134833 | G | A | 2 | a0010c0012t0001g0105 a0011c0014t0001g0112 |
2 | HG03130.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.753-4517G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92134833 | |||||||
| chr1:92134894 | A | AT | 3 | a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 |
3 | HG02258.hp2 HG03041.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.753-4456_753-4455i others(3): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92134894 | |||||||
| chr1:92134895 | A | AT | 107 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(104): Show |
111 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(108): Show |
intron_variant | MODIFIER | c.753-4441dupT | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | 92134895 | ||||||
| chr1:92134895 | A | T | 7 | a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 others(4): Show |
7 | HG02258.hp2 HG02280.hp2 HG03041.hp2 others(4): Show |
intron_variant | MODIFIER | c.753-4455A>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92134895 | |||||||
| chr1:92134896 | T | TA | 4 | a0003c0005t0003g0008 a0003c0005t0003g0009 a0003c0005t0003g0010 others(1): Show |
4 | HG02280.hp2 NA19030.hp2 NA19043.hp2 others(1): Show |
intron_variant | MODIFIER | c.753-4454_753-4453i others(3): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92134896 | |||||||
| chr1:92134952 | C | T | 4 | a0001c0003t0003g0012 a0001c0003t0003g0013 a0006c0011t0001g0138 others(1): Show |
4 | HG00140.hp1 HG00423.hp2 HG02145.hp2 others(1): Show |
intron_variant | MODIFIER | c.753-4398C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92134952 | |||||||
| chr1:92134979 | C | T | 1 | a0002c0002t0001g0127 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.753-4371C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92134979 | |||||||
| chr1:92135132 | C | A | 1 | a0001c0001t0001g0145 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.753-4218C>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92135132 | |||||||
| chr1:92135391 | G | T | 1 | a0001c0001t0001g0006 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.753-3959G>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92135391 | |||||||
| chr1:92135807 | T | G | 4 | a0001c0003t0001g0043 a0001c0003t0001g0089 a0001c0003t0001g0090 others(1): Show |
4 | HG01081.hp2 HG02109.hp2 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.753-3543T>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92135807 | |||||||
| chr1:92135818 | C | G | 2 | a0006c0011t0001g0138 a0006c0011t0001g0142 |
2 | HG00140.hp1 HG00423.hp2 |
intron_variant | MODIFIER | c.753-3532C>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92135818 | |||||||
| chr1:92136739 | C | A | 2 | a0003c0004t0002g0015 a0003c0004t0002g0017 |
2 | HG01891.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.753-2611C>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92136739 | |||||||
| chr1:92136881 | T | C | 1 | a0001c0001t0001g0063 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.753-2469T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92136881 | |||||||
| chr1:92136920 | A | G | 72 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(69): Show |
75 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(72): Show |
intron_variant | MODIFIER | c.753-2430A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92136920 | |||||||
| chr1:92136943 | A | G | 4 | a0001c0003t0001g0043 a0001c0003t0001g0089 a0001c0003t0001g0090 others(1): Show |
4 | HG01081.hp2 HG02109.hp2 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.753-2407A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92136943 | |||||||
| chr1:92136948 | T | C | 21 | a0001c0001t0002g0023 a0001c0003t0001g0030 a0001c0003t0001g0031 others(18): Show |
22 | HG01081.hp2 HG01109.hp1 HG01891.hp1 others(19): Show |
intron_variant | MODIFIER | c.753-2402T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92136948 | |||||||
| chr1:92137366 | G | A | 1 | a0003c0004t0002g0015 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.753-1984G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92137366 | |||||||
| chr1:92137577 | T | G | 1 | a0011c0014t0001g0112 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.753-1773T>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92137577 | |||||||
| chr1:92137755 | G | A | 11 | a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 others(8): Show |
11 | HG01081.hp2 HG02109.hp2 HG02258.hp2 others(8): Show |
intron_variant | MODIFIER | c.753-1595G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92137755 | |||||||
| chr1:92137823 | A | G | 4 | a0001c0003t0003g0012 a0001c0003t0003g0013 a0006c0011t0001g0138 others(1): Show |
4 | HG00140.hp1 HG00423.hp2 HG02145.hp2 others(1): Show |
intron_variant | MODIFIER | c.753-1527A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92137823 | |||||||
| chr1:92137829 | T | C | 21 | a0001c0001t0002g0023 a0001c0003t0001g0030 a0001c0003t0001g0031 others(18): Show |
22 | HG01081.hp2 HG01109.hp1 HG01891.hp1 others(19): Show |
intron_variant | MODIFIER | c.753-1521T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92137829 | |||||||
| chr1:92138057 | C | T | 4 | a0001c0003t0001g0043 a0001c0003t0001g0089 a0001c0003t0001g0090 others(1): Show |
4 | HG01081.hp2 HG02109.hp2 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.753-1293C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92138057 | |||||||
| chr1:92138253 | T | G | 116 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(113): Show |
120 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(117): Show |
intron_variant | MODIFIER | c.753-1097T>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92138253 | |||||||
| chr1:92138354 | G | A | 2 | a0001c0009t0001g0040 a0001c0009t0001g0041 |
2 | HG02622.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.753-996G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92138354 | |||||||
| chr1:92138429 | G | A | 2 | a0001c0003t0001g0005 a0001c0003t0001g0027 |
2 | HG02723.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.753-921G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92138429 | |||||||
| chr1:92138485 | C | T | 2 | a0001c0003t0001g0005 a0001c0003t0001g0027 |
2 | HG02723.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.753-865C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92138485 | |||||||
| chr1:92138557 | T | C | 117 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(114): Show |
121 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(118): Show |
intron_variant | MODIFIER | c.753-793T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92138557 | |||||||
| chr1:92138763 | G | T | 79 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(76): Show |
82 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(79): Show |
intron_variant | MODIFIER | c.753-587G>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92138763 | |||||||
| chr1:92138846 | A | G | 11 | a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 others(8): Show |
11 | HG01081.hp2 HG02109.hp2 HG02258.hp2 others(8): Show |
intron_variant | MODIFIER | c.753-504A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92138846 | |||||||
| chr1:92138895 | G | C | 1 | a0001c0001t0001g0106 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.753-455G>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92138895 | |||||||
| chr1:92139162 | A | G | 1 | a0003c0005t0003g0009 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.753-188A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92139162 | |||||||
| chr1:92139205 | G | T | 1 | a0010c0012t0001g0105 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.753-145G>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92139205 | |||||||
| chr1:92139287 | A | T | 7 | a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 others(4): Show |
7 | HG02258.hp2 HG02280.hp2 HG03041.hp2 others(4): Show |
intron_variant | MODIFIER | c.753-63A>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 5/17 | chr1 | 92139287 | |||||||
| chr1:92139648 | CTT | C | 8 | a0001c0001t0002g0023 a0003c0004t0001g0026 a0003c0004t0002g0001 others(5): Show |
9 | HG01109.hp1 HG01891.hp1 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.833+220_833+221del others(2): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr1 | 92139648 | ||||||
| chr1:92139656 | G | T | 1 | a0001c0001t0002g0023 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.833+226G>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 6/17 | chr1 | 92139656 | |||||||
| chr1:92139658 | CTT | C | 79 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(76): Show |
82 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(79): Show |
intron_variant | MODIFIER | c.833+229_833+230del others(2): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 6/17 | chr1 | 92139658 | |||||||
| chr1:92139932 | C | CA | 25 | a0001c0001t0001g0034 a0001c0001t0001g0050 a0001c0001t0001g0081 others(22): Show |
25 | HG00099.hp2 HG00408.hp1 HG00438.hp2 others(22): Show |
intron_variant | MODIFIER | c.833+533dupA | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr1 | 92139932 | ||||||
| chr1:92139932 | C | CAA | 23 | a0001c0001t0001g0004 a0001c0001t0001g0044 a0001c0001t0001g0047 others(20): Show |
24 | HG00408.hp2 HG01168.hp2 HG01169.hp1 others(21): Show |
intron_variant | MODIFIER | c.833+532_833+533dup others(2): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr1 | 92139932 | ||||||
| chr1:92139932 | C | CAAA | 17 | a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0053 others(14): Show |
17 | HG00280.hp1 HG00423.hp1 HG00438.hp1 others(14): Show |
intron_variant | MODIFIER | c.833+531_833+533dup others(3): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr1 | 92139932 | ||||||
| chr1:92139932 | C | CAAAA | 8 | a0001c0001t0001g0002 a0001c0001t0001g0058 a0001c0001t0001g0067 others(5): Show |
9 | HG01123.hp1 HG02451.hp2 HG03041.hp1 others(6): Show |
intron_variant | MODIFIER | c.833+530_833+533dup others(4): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr1 | 92139932 | ||||||
| chr1:92139932 | CA | C | 20 | a0001c0001t0001g0006 a0001c0001t0002g0023 a0001c0003t0001g0029 others(17): Show |
20 | HG01069.hp2 HG01109.hp1 HG01891.hp1 others(17): Show |
intron_variant | MODIFIER | c.833+533delA | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr1 | 92139932 | ||||||
| chr1:92139932 | CAA | C | 12 | a0001c0001t0001g0092 a0001c0003t0001g0005 a0001c0003t0001g0031 others(9): Show |
13 | HG01081.hp2 HG02109.hp2 HG02258.hp2 others(10): Show |
intron_variant | MODIFIER | c.833+532_833+533del others(2): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr1 | 92139932 | ||||||
| chr1:92139932 | CAAAAAAA others(4): Show |
C | 1 | a0001c0003t0003g0012 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.833+523_833+533del others(11): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr1 | 92139932 | ||||||
| chr1:92139932 | CAAAAAAA others(5): Show |
C | 1 | a0001c0003t0003g0013 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.833+522_833+533del others(12): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr1 | 92139932 | ||||||
| chr1:92139932 | CAAAAAAA others(6): Show |
C | 2 | a0006c0011t0001g0138 a0006c0011t0001g0142 |
2 | HG00140.hp1 HG00423.hp2 |
intron_variant | MODIFIER | c.833+521_833+533del others(13): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr1 | 92139932 | ||||||
| chr1:92140022 | A | C | 1 | a0001c0003t0001g0031 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.833+592A>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 6/17 | chr1 | 92140022 | |||||||
| chr1:92140108 | CA | C | 88 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(85): Show |
91 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(88): Show |
intron_variant | MODIFIER | c.833+695delA | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr1 | 92140108 | ||||||
| chr1:92140149 | T | C | 114 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(111): Show |
118 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(115): Show |
intron_variant | MODIFIER | c.833+719T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 6/17 | chr1 | 92140149 | |||||||
| chr1:92140161 | C | T | 2 | a0001c0003t0001g0005 a0001c0003t0001g0027 |
2 | HG02723.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.833+731C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 6/17 | chr1 | 92140161 | |||||||
| chr1:92140260 | G | GA | 109 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(106): Show |
113 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(110): Show |
intron_variant | MODIFIER | c.833+839dupA | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr1 | 92140260 | ||||||
| chr1:92140269 | A | AC | 4 | a0001c0003t0004g0019 a0001c0003t0004g0020 a0001c0003t0004g0021 others(1): Show |
4 | HG02257.hp1 HG02451.hp1 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.833+841dupC | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr1 | 92140269 | ||||||
| chr1:92140355 | C | G | 4 | a0001c0003t0004g0019 a0001c0003t0004g0020 a0001c0003t0004g0021 others(1): Show |
4 | HG02257.hp1 HG02451.hp1 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.834-760C>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 6/17 | chr1 | 92140355 | |||||||
| chr1:92140358 | A | T | 1 | a0002c0002t0001g0042 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.834-757A>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 6/17 | chr1 | 92140358 | |||||||
| chr1:92140359 | C | T | 4 | a0001c0003t0004g0019 a0001c0003t0004g0020 a0001c0003t0004g0021 others(1): Show |
4 | HG02257.hp1 HG02451.hp1 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.834-756C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 6/17 | chr1 | 92140359 | |||||||
| chr1:92140437 | T | C | 4 | a0001c0003t0003g0012 a0001c0003t0003g0013 a0010c0012t0001g0105 others(1): Show |
4 | HG02145.hp2 HG02486.hp1 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.834-678T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 6/17 | chr1 | 92140437 | |||||||
| chr1:92140514 | C | A | 1 | a0001c0001t0001g0094 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.834-601C>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 6/17 | chr1 | 92140514 | |||||||
| chr1:92140599 | G | A | 1 | a0001c0001t0001g0036 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.834-516G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 6/17 | chr1 | 92140599 | |||||||
| chr1:92141106 | T | C | 2 | a0001c0003t0002g0007 a0001c0003t0002g0025 |
2 | HG02922.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.834-9T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 6/17 | chr1 | 92141106 | |||||||
| chr1:92141995 | G | A | 1 | a0002c0002t0001g0042 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.930+784G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | chr1 | 92141995 | |||||||
| chr1:92142180 | C | T | 1 | a0010c0012t0001g0105 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.930+969C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | chr1 | 92142180 | |||||||
| chr1:92142260 | A | T | 1 | a0003c0004t0002g0018 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.930+1049A>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | chr1 | 92142260 | |||||||
| chr1:92142376 | G | C | 5 | a0001c0001t0001g0107 a0001c0001t0001g0108 a0003c0005t0001g0110 others(2): Show |
5 | HG02572.hp1 HG03130.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.930+1165G>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | chr1 | 92142376 | |||||||
| chr1:92142440 | G | A | 10 | a0001c0001t0002g0023 a0003c0004t0001g0026 a0003c0004t0002g0001 others(7): Show |
11 | HG01109.hp1 HG01891.hp1 HG02109.hp1 others(8): Show |
intron_variant | MODIFIER | c.930+1229G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | chr1 | 92142440 | |||||||
| chr1:92142472 | G | A | 79 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(76): Show |
82 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(79): Show |
intron_variant | MODIFIER | c.930+1261G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | chr1 | 92142472 | |||||||
| chr1:92142519 | A | C | 6 | a0001c0003t0001g0005 a0001c0003t0001g0027 a0001c0003t0003g0012 others(3): Show |
6 | HG02145.hp2 HG02486.hp1 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.930+1308A>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | chr1 | 92142519 | |||||||
| chr1:92142619 | G | A | 4 | a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0124 others(1): Show |
4 | HG00408.hp1 HG00438.hp2 NA18612.hp2 others(1): Show |
intron_variant | MODIFIER | c.930+1408G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | chr1 | 92142619 | |||||||
| chr1:92142704 | A | G | 109 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(106): Show |
113 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(110): Show |
intron_variant | MODIFIER | c.930+1493A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | chr1 | 92142704 | |||||||
| chr1:92142767 | G | A | 11 | a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 others(8): Show |
11 | HG01081.hp2 HG02109.hp2 HG02258.hp2 others(8): Show |
intron_variant | MODIFIER | c.930+1556G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | chr1 | 92142767 | |||||||
| chr1:92142820 | T | G | 5 | a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0060 others(2): Show |
5 | HG00408.hp2 HG01106.hp1 HG01978.hp1 others(2): Show |
intron_variant | MODIFIER | c.930+1609T>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | chr1 | 92142820 | |||||||
| chr1:92142962 | A | G | 1 | a0001c0001t0001g0107 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.930+1751A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | chr1 | 92142962 | |||||||
| chr1:92143050 | G | A | 2 | a0001c0003t0002g0007 a0001c0003t0002g0025 |
2 | HG02922.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.930+1839G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | chr1 | 92143050 | |||||||
| chr1:92143178 | G | C | 2 | a0006c0011t0001g0138 a0006c0011t0001g0142 |
2 | HG00140.hp1 HG00423.hp2 |
intron_variant | MODIFIER | c.930+1967G>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | chr1 | 92143178 | |||||||
| chr1:92143295 | G | T | 97 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(94): Show |
100 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(97): Show |
intron_variant | MODIFIER | c.930+2084G>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | chr1 | 92143295 | |||||||
| chr1:92143343 | G | A | 1 | a0009c0015t0001g0028 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.930+2132G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | chr1 | 92143343 | |||||||
| chr1:92143969 | C | CT | 10 | a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0072 others(7): Show |
10 | HG01123.hp1 HG01256.hp1 HG01978.hp1 others(7): Show |
intron_variant | MODIFIER | c.930+2779dupT | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr1 | 92143969 | ||||||
| chr1:92143969 | CT | C | 6 | a0001c0001t0001g0078 a0001c0003t0002g0007 a0001c0003t0002g0025 others(3): Show |
6 | HG01109.hp1 HG01884.hp1 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.930+2779delT | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr1 | 92143969 | ||||||
| chr1:92144015 | C | T | 2 | a0001c0001t0001g0058 a0001c0001t0001g0072 |
2 | HG01123.hp1 HG01256.hp1 |
intron_variant | MODIFIER | c.930+2804C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | chr1 | 92144015 | |||||||
| chr1:92144036 | C | T | 2 | a0006c0011t0001g0138 a0006c0011t0001g0142 |
2 | HG00140.hp1 HG00423.hp2 |
intron_variant | MODIFIER | c.930+2825C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | chr1 | 92144036 | |||||||
| chr1:92144055 | C | T | 1 | a0002c0002t0001g0114 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.930+2844C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | chr1 | 92144055 | |||||||
| chr1:92144073 | AAGCGATT others(10): Show |
A | 21 | a0001c0001t0002g0023 a0001c0003t0001g0030 a0001c0003t0001g0031 others(18): Show |
22 | HG01081.hp2 HG01109.hp1 HG01891.hp1 others(19): Show |
intron_variant | MODIFIER | c.930+2866_930+2882d others(19): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr1 | 92144073 | ||||||
| chr1:92144248 | A | G | 1 | a0001c0001t0001g0074 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.931-2932A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | chr1 | 92144248 | |||||||
| chr1:92144287 | A | G | 1 | a0001c0001t0002g0024 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.931-2893A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | chr1 | 92144287 | |||||||
| chr1:92144380 | C | T | 1 | a0010c0012t0001g0105 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.931-2800C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | chr1 | 92144380 | |||||||
| chr1:92144414 | A | G | 2 | a0001c0003t0002g0007 a0001c0003t0002g0025 |
2 | HG02922.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.931-2766A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | chr1 | 92144414 | |||||||
| chr1:92144461 | C | A | 2 | a0001c0001t0001g0092 a0001c0001t0001g0093 |
2 | HG02683.hp1 HG04115.hp1 |
intron_variant | MODIFIER | c.931-2719C>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | chr1 | 92144461 | |||||||
| chr1:92144467 | T | C | 1 | a0009c0015t0001g0028 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.931-2713T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | chr1 | 92144467 | |||||||
| chr1:92144488 | AT | A | 80 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(77): Show |
83 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(80): Show |
intron_variant | MODIFIER | c.931-2679delT | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr1 | 92144488 | ||||||
| chr1:92144654 | A | T | 80 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(77): Show |
83 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(80): Show |
intron_variant | MODIFIER | c.931-2526A>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | chr1 | 92144654 | |||||||
| chr1:92144810 | T | TAC | 15 | a0001c0001t0001g0103 a0001c0003t0001g0030 a0001c0003t0001g0031 others(12): Show |
15 | HG00408.hp1 HG00438.hp2 HG01081.hp2 others(12): Show |
intron_variant | MODIFIER | c.931-2339_931-2338d others(4): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr1 | 92144810 | ||||||
| chr1:92144810 | T | TACAC | 74 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(71): Show |
77 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(74): Show |
intron_variant | MODIFIER | c.931-2341_931-2338d others(6): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr1 | 92144810 | ||||||
| chr1:92144810 | T | TACACAC | 6 | a0001c0001t0001g0048 a0001c0001t0001g0055 a0001c0001t0001g0061 others(3): Show |
6 | HG00423.hp2 HG01168.hp2 HG01169.hp1 others(3): Show |
intron_variant | MODIFIER | c.931-2343_931-2338d others(8): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr1 | 92144810 | ||||||
| chr1:92144810 | T | TACACACA others(1): Show |
2 | a0007c0008t0001g0143 a0007c0008t0001g0144 |
2 | HG02109.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.931-2345_931-2338d others(10): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr1 | 92144810 | ||||||
| chr1:92144810 | T | TACACACA others(3): Show |
6 | a0003c0004t0002g0001 a0003c0004t0002g0014 a0003c0004t0002g0015 others(3): Show |
7 | HG01891.hp1 HG02280.hp1 HG03139.hp2 others(4): Show |
intron_variant | MODIFIER | c.931-2347_931-2338d others(12): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr1 | 92144810 | ||||||
| chr1:92144810 | T | TACACACA others(7): Show |
1 | a0001c0003t0004g0020 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.931-2351_931-2338d others(16): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr1 | 92144810 | ||||||
| chr1:92144810 | T | TACACACA others(9): Show |
2 | a0001c0003t0004g0019 a0001c0003t0004g0022 |
2 | HG02451.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.931-2353_931-2338d others(18): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr1 | 92144810 | ||||||
| chr1:92144810 | T | TACACACA others(11): Show |
1 | a0001c0003t0004g0021 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.931-2355_931-2338d others(20): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr1 | 92144810 | ||||||
| chr1:92144810 | TAC | T | 10 | a0001c0003t0001g0005 a0001c0003t0001g0091 a0001c0003t0003g0012 others(7): Show |
10 | HG02109.hp2 HG02145.hp2 HG02280.hp2 others(7): Show |
intron_variant | MODIFIER | c.931-2339_931-2338d others(4): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr1 | 92144810 | ||||||
| chr1:92144843 | G | A | 1 | a0009c0015t0001g0028 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.931-2337G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | chr1 | 92144843 | |||||||
| chr1:92144878 | G | T | 1 | a0001c0001t0001g0145 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.931-2302G>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | chr1 | 92144878 | |||||||
| chr1:92145056 | C | A | 2 | a0006c0011t0001g0138 a0006c0011t0001g0142 |
2 | HG00140.hp1 HG00423.hp2 |
intron_variant | MODIFIER | c.931-2124C>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | chr1 | 92145056 | |||||||
| chr1:92145120 | C | T | 80 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(77): Show |
83 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(80): Show |
intron_variant | MODIFIER | c.931-2060C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | chr1 | 92145120 | |||||||
| chr1:92145201 | T | G | 5 | a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0060 others(2): Show |
5 | HG00408.hp2 HG01106.hp1 HG01978.hp1 others(2): Show |
intron_variant | MODIFIER | c.931-1979T>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | chr1 | 92145201 | |||||||
| chr1:92145763 | C | T | 1 | a0001c0003t0001g0005 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.931-1417C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | chr1 | 92145763 | |||||||
| chr1:92145789 | GACC | G | 7 | a0001c0001t0001g0006 a0001c0009t0001g0040 a0001c0009t0001g0041 others(4): Show |
7 | HG01069.hp2 HG01884.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.931-1389_931-1387d others(5): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr1 | 92145789 | ||||||
| chr1:92145970 | G | A | 80 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(77): Show |
83 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(80): Show |
intron_variant | MODIFIER | c.931-1210G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | chr1 | 92145970 | |||||||
| chr1:92146048 | G | A | 2 | a0001c0003t0003g0012 a0001c0003t0003g0013 |
2 | HG02145.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.931-1132G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | chr1 | 92146048 | |||||||
| chr1:92146113 | A | G | 2 | a0001c0003t0002g0007 a0001c0003t0002g0025 |
2 | HG02922.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.931-1067A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | chr1 | 92146113 | |||||||
| chr1:92146215 | C | CA | 113 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(110): Show |
117 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(114): Show |
intron_variant | MODIFIER | c.931-962dupA | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr1 | 92146215 | ||||||
| chr1:92146271 | A | G | 4 | a0001c0003t0004g0019 a0001c0003t0004g0020 a0001c0003t0004g0021 others(1): Show |
4 | HG02257.hp1 HG02451.hp1 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.931-909A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | chr1 | 92146271 | |||||||
| chr1:92146450 | G | A | 103 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(100): Show |
106 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(103): Show |
intron_variant | MODIFIER | c.931-730G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | chr1 | 92146450 | |||||||
| chr1:92146780 | C | T | 6 | a0003c0004t0002g0001 a0003c0004t0002g0014 a0003c0004t0002g0015 others(3): Show |
7 | HG01891.hp1 HG02280.hp1 HG03139.hp2 others(4): Show |
intron_variant | MODIFIER | c.931-400C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | chr1 | 92146780 | |||||||
| chr1:92146809 | A | C | 1 | a0001c0001t0001g0098 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.931-371A>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | chr1 | 92146809 | |||||||
| chr1:92146823 | G | A | 1 | a0001c0003t0001g0029 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.931-357G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | chr1 | 92146823 | |||||||
| chr1:92147056 | T | A | 1 | a0009c0015t0001g0028 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.931-124T>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | chr1 | 92147056 | |||||||
| chr1:92147072 | A | G | 2 | a0010c0012t0001g0105 a0011c0014t0001g0112 |
2 | HG03130.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.931-108A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | chr1 | 92147072 | |||||||
| chr1:92147099 | T | C | 1 | a0001c0001t0001g0083 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.931-81T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 7/17 | chr1 | 92147099 | |||||||
| chr1:92147366 | T | C | 1 | a0004c0007t0001g0151 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.1019+98T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 8/17 | chr1 | 92147366 | |||||||
| chr1:92147462 | A | G | 1 | a0001c0003t0001g0027 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1019+194A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 8/17 | chr1 | 92147462 | |||||||
| chr1:92147896 | G | C | 1 | a0001c0001t0001g0080 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.1122+110G>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92147896 | |||||||
| chr1:92147900 | C | T | 1 | a0001c0001t0001g0048 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.1122+114C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92147900 | |||||||
| chr1:92148058 | T | C | 1 | a0001c0001t0001g0044 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.1122+272T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92148058 | |||||||
| chr1:92148197 | G | T | 1 | a0001c0003t0004g0019 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.1122+411G>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92148197 | |||||||
| chr1:92148279 | C | T | 1 | a0011c0014t0001g0112 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.1122+493C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92148279 | |||||||
| chr1:92148551 | A | G | 1 | a0001c0001t0002g0024 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1122+765A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92148551 | |||||||
| chr1:92148756 | G | A | 1 | a0001c0003t0001g0027 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1122+970G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92148756 | |||||||
| chr1:92149083 | G | T | 2 | a0001c0003t0002g0007 a0001c0003t0002g0025 |
2 | HG02922.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1122+1297G>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92149083 | |||||||
| chr1:92149117 | A | C | 1 | a0009c0015t0001g0028 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.1122+1331A>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92149117 | |||||||
| chr1:92149157 | T | C | 1 | a0002c0002t0001g0123 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.1122+1371T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92149157 | |||||||
| chr1:92149528 | G | A | 1 | a0001c0001t0001g0036 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.1122+1742G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92149528 | |||||||
| chr1:92149754 | T | C | 2 | a0001c0001t0001g0055 a0001c0001t0001g0061 |
2 | HG01168.hp2 HG02683.hp2 |
intron_variant | MODIFIER | c.1122+1968T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92149754 | |||||||
| chr1:92149798 | A | G | 4 | a0001c0001t0001g0049 a0001c0001t0001g0065 a0001c0001t0001g0076 others(1): Show |
4 | HG02615.hp1 HG02896.hp1 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.1122+2012A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92149798 | |||||||
| chr1:92150106 | T | C | 1 | a0001c0001t0001g0036 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.1122+2320T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92150106 | |||||||
| chr1:92150203 | A | G | 3 | a0001c0003t0004g0020 a0001c0003t0004g0021 a0001c0003t0004g0022 |
3 | HG02257.hp1 HG02451.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.1122+2417A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92150203 | |||||||
| chr1:92150274 | A | C | 4 | a0001c0003t0004g0019 a0001c0003t0004g0020 a0001c0003t0004g0021 others(1): Show |
4 | HG02257.hp1 HG02451.hp1 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.1122+2488A>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92150274 | |||||||
| chr1:92150303 | CA | C | 79 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(76): Show |
82 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(79): Show |
intron_variant | MODIFIER | c.1122+2518delA | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92150303 | |||||||
| chr1:92150659 | C | T | 1 | a0002c0002t0001g0141 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.1122+2873C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92150659 | |||||||
| chr1:92150715 | A | G | 1 | a0001c0003t0001g0005 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.1122+2929A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92150715 | |||||||
| chr1:92150762 | T | G | 4 | a0001c0003t0001g0043 a0001c0003t0001g0089 a0001c0003t0001g0090 others(1): Show |
4 | HG01081.hp2 HG02109.hp2 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.1122+2976T>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92150762 | |||||||
| chr1:92150981 | T | C | 1 | a0001c0003t0001g0029 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1122+3195T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92150981 | |||||||
| chr1:92151352 | C | CA | 93 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(90): Show |
97 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(94): Show |
intron_variant | MODIFIER | c.1122+3583dupA | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr1 | 92151352 | ||||||
| chr1:92151545 | A | T | 1 | a0001c0001t0001g0047 | 1 | NA19062.hp2 | intron_variant | MODIFIER | c.1122+3759A>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92151545 | |||||||
| chr1:92151955 | G | A | 4 | a0001c0003t0001g0043 a0001c0003t0001g0089 a0001c0003t0001g0090 others(1): Show |
4 | HG01081.hp2 HG02109.hp2 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.1122+4169G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92151955 | |||||||
| chr1:92151997 | T | A | 10 | a0001c0001t0002g0023 a0003c0004t0001g0026 a0003c0004t0002g0001 others(7): Show |
11 | HG01109.hp1 HG01891.hp1 HG02109.hp1 others(8): Show |
intron_variant | MODIFIER | c.1122+4211T>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92151997 | |||||||
| chr1:92152062 | G | T | 1 | a0001c0001t0001g0104 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.1122+4276G>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92152062 | |||||||
| chr1:92152541 | A | T | 2 | a0006c0011t0001g0138 a0006c0011t0001g0142 |
2 | HG00140.hp1 HG00423.hp2 |
intron_variant | MODIFIER | c.1122+4755A>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92152541 | |||||||
| chr1:92152614 | G | A | 3 | a0001c0003t0004g0020 a0001c0003t0004g0021 a0001c0003t0004g0022 |
3 | HG02257.hp1 HG02451.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.1122+4828G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92152614 | |||||||
| chr1:92152766 | G | C | 117 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(114): Show |
121 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(118): Show |
intron_variant | MODIFIER | c.1122+4980G>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92152766 | |||||||
| chr1:92153114 | G | A | 4 | a0001c0003t0003g0012 a0001c0003t0003g0013 a0010c0012t0001g0105 others(1): Show |
4 | HG02145.hp2 HG02486.hp1 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.1122+5328G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92153114 | |||||||
| chr1:92153128 | GT | G | 79 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(76): Show |
82 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(79): Show |
intron_variant | MODIFIER | c.1122+5350delT | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr1 | 92153128 | ||||||
| chr1:92153566 | C | T | 1 | a0005c0006t0001g0037 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.1122+5780C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92153566 | |||||||
| chr1:92153596 | G | A | 1 | a0004c0007t0001g0153 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.1122+5810G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92153596 | |||||||
| chr1:92153721 | A | G | 1 | a0001c0001t0001g0082 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.1122+5935A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92153721 | |||||||
| chr1:92153787 | G | A | 4 | a0001c0003t0004g0019 a0001c0003t0004g0020 a0001c0003t0004g0021 others(1): Show |
4 | HG02257.hp1 HG02451.hp1 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.1122+6001G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92153787 | |||||||
| chr1:92154008 | A | G | 2 | a0006c0011t0001g0138 a0006c0011t0001g0142 |
2 | HG00140.hp1 HG00423.hp2 |
intron_variant | MODIFIER | c.1122+6222A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92154008 | |||||||
| chr1:92154036 | C | T | 1 | a0001c0003t0002g0007 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.1122+6250C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92154036 | |||||||
| chr1:92154161 | C | T | 2 | a0004c0007t0001g0150 a0004c0007t0001g0151 |
2 | HG01123.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.1122+6375C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92154161 | |||||||
| chr1:92154631 | A | G | 1 | a0001c0001t0001g0070 | 1 | NA18975.hp1 | intron_variant | MODIFIER | c.1122+6845A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92154631 | |||||||
| chr1:92154711 | T | C | 1 | a0001c0001t0001g0078 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.1122+6925T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92154711 | |||||||
| chr1:92154764 | G | A | 6 | a0001c0001t0001g0003 a0001c0001t0001g0050 a0001c0001t0001g0079 others(3): Show |
7 | HG01081.hp1 HG01346.hp2 HG01978.hp2 others(4): Show |
intron_variant | MODIFIER | c.1122+6978G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92154764 | |||||||
| chr1:92154824 | G | A | 4 | a0001c0003t0001g0043 a0001c0003t0001g0089 a0001c0003t0001g0090 others(1): Show |
4 | HG01081.hp2 HG02109.hp2 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.1122+7038G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92154824 | |||||||
| chr1:92154904 | A | G | 1 | a0001c0001t0001g0053 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.1122+7118A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92154904 | |||||||
| chr1:92154949 | G | A | 3 | a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0149 |
3 | HG00099.hp2 HG01069.hp1 HG01192.hp1 |
intron_variant | MODIFIER | c.1122+7163G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92154949 | |||||||
| chr1:92155434 | T | C | 114 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(111): Show |
118 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(115): Show |
intron_variant | MODIFIER | c.1122+7648T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92155434 | |||||||
| chr1:92155495 | A | G | 1 | a0001c0003t0002g0007 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.1122+7709A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92155495 | |||||||
| chr1:92155621 | C | G | 4 | a0001c0003t0001g0043 a0001c0003t0001g0089 a0001c0003t0001g0090 others(1): Show |
4 | HG01081.hp2 HG02109.hp2 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.1122+7835C>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92155621 | |||||||
| chr1:92155856 | A | G | 80 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(77): Show |
83 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(80): Show |
intron_variant | MODIFIER | c.1122+8070A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92155856 | |||||||
| chr1:92155871 | G | T | 81 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(78): Show |
84 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(81): Show |
intron_variant | MODIFIER | c.1122+8085G>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92155871 | |||||||
| chr1:92156061 | G | A | 1 | a0001c0001t0001g0107 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.1122+8275G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92156061 | |||||||
| chr1:92156573 | A | G | 4 | a0001c0003t0004g0019 a0001c0003t0004g0020 a0001c0003t0004g0021 others(1): Show |
4 | HG02257.hp1 HG02451.hp1 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.1122+8787A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92156573 | |||||||
| chr1:92156593 | T | A | 2 | a0006c0011t0001g0138 a0006c0011t0001g0142 |
2 | HG00140.hp1 HG00423.hp2 |
intron_variant | MODIFIER | c.1122+8807T>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92156593 | |||||||
| chr1:92156645 | T | C | 1 | a0010c0012t0001g0105 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1122+8859T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92156645 | |||||||
| chr1:92156676 | T | C | 1 | a0010c0012t0001g0105 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1122+8890T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92156676 | |||||||
| chr1:92156704 | A | G | 1 | a0010c0012t0001g0105 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1122+8918A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92156704 | |||||||
| chr1:92156706 | T | G | 1 | a0010c0012t0001g0105 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1122+8920T>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92156706 | |||||||
| chr1:92156792 | TCA | T | 4 | a0003c0005t0003g0008 a0003c0005t0003g0009 a0003c0005t0003g0010 others(1): Show |
4 | HG02280.hp2 NA19030.hp2 NA19043.hp2 others(1): Show |
intron_variant | MODIFIER | c.1122+9007_1122+900 others(6): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92156792 | |||||||
| chr1:92156918 | C | A | 3 | a0001c0001t0001g0055 a0001c0001t0001g0061 a0001c0001t0001g0062 |
3 | HG01168.hp2 HG01175.hp2 HG02683.hp2 |
intron_variant | MODIFIER | c.1122+9132C>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92156918 | |||||||
| chr1:92157012 | A | G | 81 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(78): Show |
84 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(81): Show |
intron_variant | MODIFIER | c.1122+9226A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92157012 | |||||||
| chr1:92157078 | A | G | 2 | a0001c0003t0003g0012 a0001c0003t0003g0013 |
2 | HG02145.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.1122+9292A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92157078 | |||||||
| chr1:92157208 | T | C | 2 | a0004c0007t0001g0150 a0004c0007t0001g0151 |
2 | HG01123.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.1122+9422T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92157208 | |||||||
| chr1:92157327 | G | A | 1 | a0001c0001t0001g0061 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.1122+9541G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92157327 | |||||||
| chr1:92157329 | A | G | 2 | a0001c0003t0001g0005 a0001c0003t0001g0027 |
2 | HG02723.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.1122+9543A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92157329 | |||||||
| chr1:92157522 | C | G | 80 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(77): Show |
83 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(80): Show |
intron_variant | MODIFIER | c.1123-9436C>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92157522 | |||||||
| chr1:92157566 | C | T | 1 | a0001c0003t0001g0029 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1123-9392C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92157566 | |||||||
| chr1:92157789 | G | A | 1 | a0009c0015t0001g0028 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.1123-9169G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92157789 | |||||||
| chr1:92157797 | G | C | 4 | a0001c0003t0004g0019 a0001c0003t0004g0020 a0001c0003t0004g0021 others(1): Show |
4 | HG02257.hp1 HG02451.hp1 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.1123-9161G>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92157797 | |||||||
| chr1:92157887 | A | G | 1 | a0001c0001t0001g0146 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.1123-9071A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92157887 | |||||||
| chr1:92158287 | G | T | 1 | a0001c0003t0001g0005 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.1123-8671G>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92158287 | |||||||
| chr1:92158366 | A | AT | 110 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(107): Show |
114 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(111): Show |
intron_variant | MODIFIER | c.1123-8585dupT | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr1 | 92158366 | ||||||
| chr1:92158565 | A | G | 21 | a0001c0001t0002g0023 a0001c0003t0001g0030 a0001c0003t0001g0031 others(18): Show |
22 | HG01081.hp2 HG01109.hp1 HG01891.hp1 others(19): Show |
intron_variant | MODIFIER | c.1123-8393A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92158565 | |||||||
| chr1:92158656 | C | T | 2 | a0001c0003t0002g0007 a0001c0003t0002g0025 |
2 | HG02922.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1123-8302C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92158656 | |||||||
| chr1:92158716 | T | C | 2 | a0010c0012t0001g0105 a0011c0014t0001g0112 |
2 | HG03130.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1123-8242T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92158716 | |||||||
| chr1:92159136 | C | T | 1 | a0002c0002t0001g0132 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.1123-7822C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92159136 | |||||||
| chr1:92159139 | T | C | 1 | a0001c0001t0001g0059 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.1123-7819T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92159139 | |||||||
| chr1:92159147 | A | G | 1 | a0001c0003t0002g0025 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1123-7811A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92159147 | |||||||
| chr1:92159158 | TTTTC | T | 4 | a0001c0003t0003g0012 a0001c0003t0003g0013 a0010c0012t0001g0105 others(1): Show |
4 | HG02145.hp2 HG02486.hp1 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.1123-7784_1123-778 others(8): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr1 | 92159158 | ||||||
| chr1:92159174 | CT | C | 18 | a0001c0001t0001g0055 a0001c0001t0002g0023 a0001c0003t0001g0030 others(15): Show |
19 | HG01109.hp1 HG01168.hp2 HG01891.hp1 others(16): Show |
intron_variant | MODIFIER | c.1123-7771delT | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr1 | 92159174 | ||||||
| chr1:92159187 | T | C | 1 | a0001c0001t0001g0146 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.1123-7771T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92159187 | |||||||
| chr1:92159432 | C | A | 1 | a0009c0015t0001g0028 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.1123-7526C>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92159432 | |||||||
| chr1:92159500 | G | A | 1 | a0001c0001t0001g0076 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.1123-7458G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92159500 | |||||||
| chr1:92159505 | A | G | 1 | a0006c0011t0001g0142 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.1123-7453A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92159505 | |||||||
| chr1:92159537 | T | C | 114 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(111): Show |
118 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(115): Show |
intron_variant | MODIFIER | c.1123-7421T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92159537 | |||||||
| chr1:92159612 | G | A | 1 | a0003c0005t0001g0110 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.1123-7346G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92159612 | |||||||
| chr1:92160490 | G | C | 2 | a0006c0011t0001g0138 a0006c0011t0001g0142 |
2 | HG00140.hp1 HG00423.hp2 |
intron_variant | MODIFIER | c.1123-6468G>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92160490 | |||||||
| chr1:92160608 | T | C | 1 | a0002c0002t0001g0042 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.1123-6350T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92160608 | |||||||
| chr1:92160862 | C | T | 1 | a0001c0001t0001g0096 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.1123-6096C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92160862 | |||||||
| chr1:92160949 | A | G | 1 | a0005c0006t0001g0038 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1123-6009A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92160949 | |||||||
| chr1:92161002 | G | A | 2 | a0001c0003t0002g0007 a0001c0003t0002g0025 |
2 | HG02922.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1123-5956G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92161002 | |||||||
| chr1:92161213 | A | G | 7 | a0001c0001t0001g0006 a0001c0009t0001g0040 a0001c0009t0001g0041 others(4): Show |
7 | HG01069.hp2 HG01884.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.1123-5745A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92161213 | |||||||
| chr1:92161381 | T | C | 10 | a0001c0001t0002g0023 a0003c0004t0001g0026 a0003c0004t0002g0001 others(7): Show |
11 | HG01109.hp1 HG01891.hp1 HG02109.hp1 others(8): Show |
intron_variant | MODIFIER | c.1123-5577T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92161381 | |||||||
| chr1:92161443 | C | T | 1 | a0001c0001t0001g0094 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.1123-5515C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92161443 | |||||||
| chr1:92162029 | C | T | 1 | a0001c0001t0001g0006 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.1123-4929C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92162029 | |||||||
| chr1:92162214 | T | A | 1 | a0001c0001t0001g0145 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.1123-4744T>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92162214 | |||||||
| chr1:92162454 | A | G | 103 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(100): Show |
106 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(103): Show |
intron_variant | MODIFIER | c.1123-4504A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92162454 | |||||||
| chr1:92162468 | A | G | 4 | a0001c0003t0001g0043 a0001c0003t0001g0089 a0001c0003t0001g0090 others(1): Show |
4 | HG01081.hp2 HG02109.hp2 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.1123-4490A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92162468 | |||||||
| chr1:92162938 | A | G | 2 | a0001c0001t0001g0070 a0001c0001t0001g0098 |
2 | NA18970.hp2 NA18975.hp1 |
intron_variant | MODIFIER | c.1123-4020A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92162938 | |||||||
| chr1:92163081 | G | A | 1 | a0010c0012t0001g0105 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1123-3877G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92163081 | |||||||
| chr1:92163083 | G | A | 1 | a0001c0001t0001g0067 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.1123-3875G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92163083 | |||||||
| chr1:92163224 | A | G | 1 | a0001c0001t0001g0063 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.1123-3734A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92163224 | |||||||
| chr1:92163279 | C | T | 8 | a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 others(5): Show |
8 | HG02258.hp2 HG02280.hp2 HG03041.hp2 others(5): Show |
intron_variant | MODIFIER | c.1123-3679C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92163279 | |||||||
| chr1:92163336 | CAGAG | C | 79 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(76): Show |
82 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(79): Show |
intron_variant | MODIFIER | c.1123-3616_1123-361 others(8): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr1 | 92163336 | ||||||
| chr1:92163346 | T | C | 97 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(94): Show |
100 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(97): Show |
intron_variant | MODIFIER | c.1123-3612T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92163346 | |||||||
| chr1:92163354 | C | CA | 20 | a0001c0001t0002g0023 a0001c0003t0001g0133 a0001c0003t0002g0007 others(17): Show |
20 | HG00438.hp2 HG01070.hp2 HG01123.hp2 others(17): Show |
intron_variant | MODIFIER | c.1123-3575dupA | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr1 | 92163354 | ||||||
| chr1:92163354 | CA | C | 27 | a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0057 others(24): Show |
27 | HG00140.hp1 HG00423.hp2 HG00438.hp1 others(24): Show |
intron_variant | MODIFIER | c.1123-3575delA | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr1 | 92163354 | ||||||
| chr1:92163354 | CAA | C | 67 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(64): Show |
70 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(67): Show |
intron_variant | MODIFIER | c.1123-3576_1123-357 others(6): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr1 | 92163354 | ||||||
| chr1:92163579 | T | A | 4 | a0001c0003t0001g0043 a0001c0003t0001g0089 a0001c0003t0001g0090 others(1): Show |
4 | HG01081.hp2 HG02109.hp2 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.1123-3379T>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92163579 | |||||||
| chr1:92163627 | G | A | 2 | a0007c0008t0001g0143 a0007c0008t0001g0144 |
2 | HG02109.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.1123-3331G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92163627 | |||||||
| chr1:92163662 | C | T | 2 | a0005c0006t0001g0033 a0005c0006t0001g0039 |
2 | HG02922.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.1123-3296C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92163662 | |||||||
| chr1:92163769 | C | T | 80 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(77): Show |
83 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(80): Show |
intron_variant | MODIFIER | c.1123-3189C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92163769 | |||||||
| chr1:92163844 | T | G | 1 | a0001c0003t0001g0005 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.1123-3114T>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92163844 | |||||||
| chr1:92163971 | C | T | 1 | a0005c0006t0001g0038 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1123-2987C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92163971 | |||||||
| chr1:92164285 | A | G | 4 | a0001c0003t0001g0031 a0001c0003t0001g0032 a0001c0003t0002g0007 others(1): Show |
4 | HG02258.hp2 HG02922.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.1123-2673A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92164285 | |||||||
| chr1:92164308 | A | G | 1 | a0001c0001t0001g0075 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1123-2650A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92164308 | |||||||
| chr1:92164518 | C | G | 7 | a0003c0004t0001g0026 a0003c0004t0002g0001 a0003c0004t0002g0014 others(4): Show |
8 | HG01109.hp1 HG01891.hp1 HG02280.hp1 others(5): Show |
intron_variant | MODIFIER | c.1123-2440C>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92164518 | |||||||
| chr1:92164754 | C | T | 79 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(76): Show |
82 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(79): Show |
intron_variant | MODIFIER | c.1123-2204C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92164754 | |||||||
| chr1:92164824 | G | A | 6 | a0001c0001t0001g0003 a0001c0001t0001g0050 a0001c0001t0001g0079 others(3): Show |
7 | HG01081.hp1 HG01346.hp2 HG01978.hp2 others(4): Show |
intron_variant | MODIFIER | c.1123-2134G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92164824 | |||||||
| chr1:92165119 | C | CA | 5 | a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 others(2): Show |
5 | HG02258.hp2 HG02922.hp1 HG03041.hp2 others(2): Show |
intron_variant | MODIFIER | c.1123-1823dupA | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr1 | 92165119 | ||||||
| chr1:92165119 | CA | C | 10 | a0001c0003t0003g0012 a0001c0003t0003g0013 a0001c0003t0004g0019 others(7): Show |
10 | HG00140.hp1 HG00423.hp2 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.1123-1823delA | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr1 | 92165119 | ||||||
| chr1:92165119 | CAA | C | 13 | a0001c0003t0001g0029 a0001c0003t0001g0043 a0001c0003t0001g0089 others(10): Show |
13 | HG01081.hp2 HG02109.hp1 HG02109.hp2 others(10): Show |
intron_variant | MODIFIER | c.1123-1824_1123-182 others(6): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr1 | 92165119 | ||||||
| chr1:92165133 | A | AT | 2 | a0005c0006t0001g0033 a0005c0006t0001g0039 |
2 | HG02922.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.1123-1825_1123-182 others(5): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92165133 | |||||||
| chr1:92165133 | A | T | 4 | a0001c0001t0001g0006 a0001c0001t0001g0055 a0005c0006t0001g0037 others(1): Show |
4 | HG01069.hp2 HG01168.hp2 HG01884.hp1 others(1): Show |
intron_variant | MODIFIER | c.1123-1825A>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92165133 | |||||||
| chr1:92165165 | G | T | 4 | a0001c0003t0004g0019 a0001c0003t0004g0020 a0001c0003t0004g0021 others(1): Show |
4 | HG02257.hp1 HG02451.hp1 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.1123-1793G>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92165165 | |||||||
| chr1:92165505 | T | TA | 17 | a0001c0003t0001g0089 a0001c0003t0001g0090 a0001c0003t0001g0091 others(14): Show |
18 | HG01109.hp1 HG01891.hp1 HG02109.hp1 others(15): Show |
intron_variant | MODIFIER | c.1123-1439dupA | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr1 | 92165505 | ||||||
| chr1:92165549 | G | T | 1 | a0001c0001t0001g0047 | 1 | NA19062.hp2 | intron_variant | MODIFIER | c.1123-1409G>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92165549 | |||||||
| chr1:92165562 | A | G | 1 | a0002c0002t0001g0131 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.1123-1396A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92165562 | |||||||
| chr1:92165805 | G | A | 2 | a0006c0011t0001g0138 a0006c0011t0001g0142 |
2 | HG00140.hp1 HG00423.hp2 |
intron_variant | MODIFIER | c.1123-1153G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92165805 | |||||||
| chr1:92166424 | C | CT | 87 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(84): Show |
90 | HG00099.hp1 HG00140.hp2 HG00408.hp2 others(87): Show |
intron_variant | MODIFIER | c.1123-516dupT | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr1 | 92166424 | ||||||
| chr1:92166428 | T | C | 1 | a0002c0002t0001g0042 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.1123-530T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92166428 | |||||||
| chr1:92166472 | C | T | 2 | a0009c0015t0001g0028 a0011c0014t0001g0112 |
2 | HG01891.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.1123-486C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92166472 | |||||||
| chr1:92166486 | G | A | 1 | a0001c0001t0001g0145 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.1123-472G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92166486 | |||||||
| chr1:92166556 | C | T | 1 | a0001c0003t0001g0027 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1123-402C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92166556 | |||||||
| chr1:92166570 | A | G | 7 | a0003c0004t0001g0026 a0003c0004t0002g0001 a0003c0004t0002g0014 others(4): Show |
8 | HG01109.hp1 HG01891.hp1 HG02280.hp1 others(5): Show |
intron_variant | MODIFIER | c.1123-388A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92166570 | |||||||
| chr1:92166641 | G | A | 5 | a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 others(2): Show |
5 | HG02258.hp2 HG02922.hp1 HG03041.hp2 others(2): Show |
intron_variant | MODIFIER | c.1123-317G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 9/17 | chr1 | 92166641 | |||||||
| chr1:92167501 | T | C | 81 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(78): Show |
84 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(81): Show |
intron_variant | MODIFIER | c.1306-347T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 10/17 | chr1 | 92167501 | |||||||
| chr1:92167562 | A | G | 1 | a0002c0002t0001g0123 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.1306-286A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 10/17 | chr1 | 92167562 | |||||||
| chr1:92168017 | T | A | 2 | a0001c0003t0003g0012 a0001c0003t0003g0013 |
2 | HG02145.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.1443+32T>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 11/17 | chr1 | 92168017 | |||||||
| chr1:92168136 | A | AT | 4 | a0001c0003t0001g0043 a0001c0003t0001g0089 a0001c0003t0001g0090 others(1): Show |
4 | HG01081.hp2 HG02109.hp2 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.1443+157dupT | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr1 | 92168136 | ||||||
| chr1:92168208 | G | A | 4 | a0001c0003t0003g0012 a0001c0003t0003g0013 a0006c0011t0001g0138 others(1): Show |
4 | HG00140.hp1 HG00423.hp2 HG02145.hp2 others(1): Show |
intron_variant | MODIFIER | c.1443+223G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 11/17 | chr1 | 92168208 | |||||||
| chr1:92168315 | AAAATGTA others(12): Show |
A | 101 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(98): Show |
104 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(101): Show |
intron_variant | MODIFIER | c.1443+347_1443+365d others(21): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr1 | 92168315 | ||||||
| chr1:92168334 | T | TA | 4 | a0001c0003t0004g0019 a0001c0003t0004g0020 a0001c0003t0004g0021 others(1): Show |
4 | HG02257.hp1 HG02451.hp1 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.1443+352dupA | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr1 | 92168334 | ||||||
| chr1:92168400 | CA | C | 80 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(77): Show |
83 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(80): Show |
intron_variant | MODIFIER | c.1443+421delA | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr1 | 92168400 | ||||||
| chr1:92168457 | A | G | 2 | a0001c0001t0001g0095 a0001c0001t0001g0096 |
2 | NA18951.hp1 NA19012.hp2 |
intron_variant | MODIFIER | c.1444-409A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 11/17 | chr1 | 92168457 | |||||||
| chr1:92168704 | T | C | 18 | a0001c0003t0001g0043 a0001c0003t0001g0089 a0001c0003t0001g0090 others(15): Show |
19 | HG01081.hp2 HG01109.hp1 HG01891.hp1 others(16): Show |
intron_variant | MODIFIER | c.1444-162T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 11/17 | chr1 | 92168704 | |||||||
| chr1:92169069 | A | G | 1 | a0004c0007t0001g0154 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.1573+74A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 12/17 | chr1 | 92169069 | |||||||
| chr1:92169304 | A | G | 2 | a0001c0003t0001g0029 a0010c0012t0001g0105 |
2 | HG03130.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.1573+309A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 12/17 | chr1 | 92169304 | |||||||
| chr1:92169454 | T | C | 1 | a0006c0011t0001g0138 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.1573+459T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 12/17 | chr1 | 92169454 | |||||||
| chr1:92169582 | AT | A | 4 | a0001c0003t0003g0012 a0001c0003t0003g0013 a0006c0011t0001g0138 others(1): Show |
4 | HG00140.hp1 HG00423.hp2 HG02145.hp2 others(1): Show |
intron_variant | MODIFIER | c.1573+588delT | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 12/17 | chr1 | 92169582 | |||||||
| chr1:92169935 | A | G | 1 | a0001c0003t0001g0005 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.1573+940A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 12/17 | chr1 | 92169935 | |||||||
| chr1:92169990 | G | T | 1 | a0010c0012t0001g0105 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1573+995G>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 12/17 | chr1 | 92169990 | |||||||
| chr1:92170118 | T | C | 2 | a0001c0001t0001g0092 a0001c0001t0001g0093 |
2 | HG02683.hp1 HG04115.hp1 |
intron_variant | MODIFIER | c.1573+1123T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 12/17 | chr1 | 92170118 | |||||||
| chr1:92170299 | T | C | 4 | a0001c0003t0001g0043 a0001c0003t0001g0089 a0001c0003t0001g0090 others(1): Show |
4 | HG01081.hp2 HG02109.hp2 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.1574-1100T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 12/17 | chr1 | 92170299 | |||||||
| chr1:92170666 | A | T | 4 | a0001c0001t0001g0049 a0001c0001t0001g0065 a0001c0001t0001g0076 others(1): Show |
4 | HG02615.hp1 HG02896.hp1 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.1574-733A>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 12/17 | chr1 | 92170666 | |||||||
| chr1:92170786 | A | G | 1 | a0001c0001t0001g0046 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.1574-613A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 12/17 | chr1 | 92170786 | |||||||
| chr1:92170872 | A | ATTGT | 109 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(106): Show |
113 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(110): Show |
intron_variant | MODIFIER | c.1574-525_1574-524i others(6): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | 92170872 | ||||||
| chr1:92170994 | C | T | 1 | a0002c0002t0001g0115 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.1574-405C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 12/17 | chr1 | 92170994 | |||||||
| chr1:92171516 | CTTA | C | 7 | a0001c0001t0001g0049 a0001c0001t0001g0076 a0001c0001t0001g0077 others(4): Show |
7 | HG00140.hp1 HG00423.hp2 HG02145.hp2 others(4): Show |
intron_variant | MODIFIER | c.1635+62_1635+64del others(3): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr1 | 92171516 | ||||||
| chr1:92171769 | G | A | 105 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(102): Show |
108 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(105): Show |
intron_variant | MODIFIER | c.1635+309G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 13/17 | chr1 | 92171769 | |||||||
| chr1:92172015 | C | T | 4 | a0001c0003t0001g0043 a0001c0003t0001g0089 a0001c0003t0001g0090 others(1): Show |
4 | HG01081.hp2 HG02109.hp2 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.1635+555C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 13/17 | chr1 | 92172015 | |||||||
| chr1:92172095 | C | CA | 4 | a0001c0003t0003g0012 a0001c0003t0003g0013 a0006c0011t0001g0138 others(1): Show |
4 | HG00140.hp1 HG00423.hp2 HG02145.hp2 others(1): Show |
intron_variant | MODIFIER | c.1635+644dupA | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr1 | 92172095 | ||||||
| chr1:92173021 | G | A | 4 | a0001c0003t0004g0019 a0001c0003t0004g0020 a0001c0003t0004g0021 others(1): Show |
4 | HG02257.hp1 HG02451.hp1 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.1635+1561G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 13/17 | chr1 | 92173021 | |||||||
| chr1:92173051 | A | G | 109 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(106): Show |
113 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(110): Show |
intron_variant | MODIFIER | c.1635+1591A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 13/17 | chr1 | 92173051 | |||||||
| chr1:92173136 | G | T | 1 | a0001c0003t0001g0005 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.1635+1676G>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 13/17 | chr1 | 92173136 | |||||||
| chr1:92173159 | A | T | 1 | a0001c0003t0002g0025 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1635+1699A>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 13/17 | chr1 | 92173159 | |||||||
| chr1:92173190 | C | G | 119 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(116): Show |
123 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(120): Show |
intron_variant | MODIFIER | c.1635+1730C>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 13/17 | chr1 | 92173190 | |||||||
| chr1:92173214 | C | T | 1 | a0001c0001t0001g0079 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.1635+1754C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 13/17 | chr1 | 92173214 | |||||||
| chr1:92173215 | A | G | 108 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(105): Show |
112 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(109): Show |
intron_variant | MODIFIER | c.1635+1755A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 13/17 | chr1 | 92173215 | |||||||
| chr1:92173222 | A | G | 119 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(116): Show |
123 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(120): Show |
intron_variant | MODIFIER | c.1635+1762A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 13/17 | chr1 | 92173222 | |||||||
| chr1:92173439 | C | T | 2 | a0006c0011t0001g0138 a0006c0011t0001g0142 |
2 | HG00140.hp1 HG00423.hp2 |
intron_variant | MODIFIER | c.1635+1979C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 13/17 | chr1 | 92173439 | |||||||
| chr1:92173502 | G | A | 2 | a0006c0011t0001g0138 a0006c0011t0001g0142 |
2 | HG00140.hp1 HG00423.hp2 |
intron_variant | MODIFIER | c.1635+2042G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 13/17 | chr1 | 92173502 | |||||||
| chr1:92173627 | G | A | 1 | a0001c0001t0001g0059 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.1635+2167G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 13/17 | chr1 | 92173627 | |||||||
| chr1:92173659 | G | A | 2 | a0009c0015t0001g0028 a0011c0014t0001g0112 |
2 | HG01891.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.1635+2199G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 13/17 | chr1 | 92173659 | |||||||
| chr1:92173776 | A | G | 1 | a0001c0001t0001g0096 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.1635+2316A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 13/17 | chr1 | 92173776 | |||||||
| chr1:92174126 | T | G | 7 | a0003c0005t0001g0110 a0003c0005t0003g0008 a0003c0005t0003g0009 others(4): Show |
7 | HG02109.hp1 HG02280.hp2 HG02976.hp2 others(4): Show |
intron_variant | MODIFIER | c.1635+2666T>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 13/17 | chr1 | 92174126 | |||||||
| chr1:92174274 | C | T | 102 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(99): Show |
105 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(102): Show |
intron_variant | MODIFIER | c.1636-2555C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 13/17 | chr1 | 92174274 | |||||||
| chr1:92174379 | C | T | 81 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(78): Show |
84 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(81): Show |
intron_variant | MODIFIER | c.1636-2450C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 13/17 | chr1 | 92174379 | |||||||
| chr1:92174598 | T | A | 2 | a0009c0015t0001g0028 a0011c0014t0001g0112 |
2 | HG01891.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.1636-2231T>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 13/17 | chr1 | 92174598 | |||||||
| chr1:92174626 | G | GT | 87 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(84): Show |
90 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(87): Show |
intron_variant | MODIFIER | c.1636-2193dupT | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr1 | 92174626 | ||||||
| chr1:92174659 | A | G | 1 | a0011c0014t0001g0112 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.1636-2170A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 13/17 | chr1 | 92174659 | |||||||
| chr1:92174834 | GGTT | G | 4 | a0001c0003t0001g0043 a0001c0003t0001g0089 a0001c0003t0001g0090 others(1): Show |
4 | HG01081.hp2 HG02109.hp2 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.1636-1991_1636-198 others(7): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr1 | 92174834 | ||||||
| chr1:92174916 | A | G | 4 | a0001c0003t0001g0043 a0001c0003t0001g0089 a0001c0003t0001g0090 others(1): Show |
4 | HG01081.hp2 HG02109.hp2 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.1636-1913A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 13/17 | chr1 | 92174916 | |||||||
| chr1:92174940 | G | A | 119 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(116): Show |
123 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(120): Show |
intron_variant | MODIFIER | c.1636-1889G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 13/17 | chr1 | 92174940 | |||||||
| chr1:92175156 | G | GA | 5 | a0001c0001t0001g0050 a0001c0001t0001g0067 a0001c0001t0001g0081 others(2): Show |
5 | HG01109.hp1 HG01981.hp2 HG02698.hp1 others(2): Show |
intron_variant | MODIFIER | c.1636-1663dupA | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr1 | 92175156 | ||||||
| chr1:92175368 | A | G | 1 | a0001c0001t0001g0048 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.1636-1461A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 13/17 | chr1 | 92175368 | |||||||
| chr1:92175430 | A | G | 83 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(80): Show |
86 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(83): Show |
intron_variant | MODIFIER | c.1636-1399A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 13/17 | chr1 | 92175430 | |||||||
| chr1:92175476 | T | C | 1 | a0002c0002t0001g0134 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.1636-1353T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 13/17 | chr1 | 92175476 | |||||||
| chr1:92175477 | C | CAAAAA | 53 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0034 others(50): Show |
55 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(52): Show |
intron_variant | MODIFIER | c.1636-1334_1636-133 others(9): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr1 | 92175477 | ||||||
| chr1:92175477 | C | CAAAAAA | 23 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0047 others(20): Show |
24 | HG00408.hp2 HG00438.hp1 HG01069.hp2 others(21): Show |
intron_variant | MODIFIER | c.1636-1335_1636-133 others(10): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr1 | 92175477 | ||||||
| chr1:92175477 | C | CAAAAAAA others(7): Show |
1 | a0009c0015t0001g0028 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.1636-1343_1636-133 others(18): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr1 | 92175477 | ||||||
| chr1:92175477 | C | CAAAAAAA others(8): Show |
2 | a0008c0010t0001g0109 a0011c0014t0001g0112 |
2 | HG03225.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.1636-1344_1636-133 others(19): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr1 | 92175477 | ||||||
| chr1:92175477 | C | CAAAAAAA others(9): Show |
1 | a0008c0010t0001g0111 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.1636-1345_1636-133 others(20): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr1 | 92175477 | ||||||
| chr1:92175477 | C | CAAAAAAA others(11): Show |
2 | a0001c0003t0003g0012 a0001c0003t0003g0013 |
2 | HG02145.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.1636-1347_1636-133 others(22): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr1 | 92175477 | ||||||
| chr1:92175477 | CA | C | 8 | a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 others(5): Show |
8 | HG01168.hp1 HG02258.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.1636-1330delA | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr1 | 92175477 | ||||||
| chr1:92175477 | CAA | C | 10 | a0001c0003t0001g0043 a0001c0003t0001g0089 a0001c0003t0001g0090 others(7): Show |
10 | HG01081.hp2 HG02109.hp1 HG02109.hp2 others(7): Show |
intron_variant | MODIFIER | c.1636-1331_1636-133 others(6): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr1 | 92175477 | ||||||
| chr1:92175512 | T | C | 79 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(76): Show |
82 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(79): Show |
intron_variant | MODIFIER | c.1636-1317T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 13/17 | chr1 | 92175512 | |||||||
| chr1:92175566 | G | A | 1 | a0010c0012t0001g0105 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1636-1263G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 13/17 | chr1 | 92175566 | |||||||
| chr1:92175794 | CAAAAAAG others(4): Show |
C | 4 | a0001c0003t0003g0012 a0001c0003t0003g0013 a0006c0011t0001g0138 others(1): Show |
4 | HG00140.hp1 HG00423.hp2 HG02145.hp2 others(1): Show |
intron_variant | MODIFIER | c.1636-1017_1636-100 others(15): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr1 | 92175794 | ||||||
| chr1:92176050 | C | A | 78 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(75): Show |
81 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(78): Show |
intron_variant | MODIFIER | c.1636-779C>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 13/17 | chr1 | 92176050 | |||||||
| chr1:92176118 | T | A | 4 | a0001c0003t0003g0012 a0001c0003t0003g0013 a0006c0011t0001g0138 others(1): Show |
4 | HG00140.hp1 HG00423.hp2 HG02145.hp2 others(1): Show |
intron_variant | MODIFIER | c.1636-711T>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 13/17 | chr1 | 92176118 | |||||||
| chr1:92176296 | T | A | 1 | a0001c0003t0002g0025 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1636-533T>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 13/17 | chr1 | 92176296 | |||||||
| chr1:92176353 | T | C | 1 | a0001c0001t0001g0075 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1636-476T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 13/17 | chr1 | 92176353 | |||||||
| chr1:92176375 | A | G | 2 | a0001c0003t0001g0005 a0001c0003t0001g0027 |
2 | HG02723.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.1636-454A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 13/17 | chr1 | 92176375 | |||||||
| chr1:92176542 | T | G | 2 | a0001c0003t0003g0012 a0001c0003t0003g0013 |
2 | HG02145.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.1636-287T>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 13/17 | chr1 | 92176542 | |||||||
| chr1:92176653 | G | A | 2 | a0008c0010t0001g0109 a0008c0010t0001g0111 |
2 | HG03130.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.1636-176G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 13/17 | chr1 | 92176653 | |||||||
| chr1:92178698 | G | A | 7 | a0003c0004t0001g0026 a0003c0004t0002g0001 a0003c0004t0002g0014 others(4): Show |
8 | HG01109.hp1 HG01891.hp1 HG02280.hp1 others(5): Show |
intron_variant | MODIFIER | c.2581+247G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 16/17 | chr1 | 92178698 | |||||||
| chr1:92178702 | G | T | 1 | a0009c0015t0001g0028 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.2581+251G>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 16/17 | chr1 | 92178702 | |||||||
| chr1:92178742 | G | C | 4 | a0001c0003t0003g0012 a0001c0003t0003g0013 a0006c0011t0001g0138 others(1): Show |
4 | HG00140.hp1 HG00423.hp2 HG02145.hp2 others(1): Show |
intron_variant | MODIFIER | c.2581+291G>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 16/17 | chr1 | 92178742 | |||||||
| chr1:92178802 | C | T | 5 | a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 others(2): Show |
5 | HG02258.hp2 HG02922.hp1 HG03041.hp2 others(2): Show |
intron_variant | MODIFIER | c.2581+351C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 16/17 | chr1 | 92178802 | |||||||
| chr1:92178813 | G | A | 20 | a0001c0001t0001g0003 a0001c0001t0001g0034 a0001c0001t0001g0050 others(17): Show |
21 | HG00099.hp1 HG00140.hp2 HG01081.hp1 others(18): Show |
intron_variant | MODIFIER | c.2581+362G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 16/17 | chr1 | 92178813 | |||||||
| chr1:92178973 | C | T | 1 | a0001c0001t0001g0102 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.2581+522C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 16/17 | chr1 | 92178973 | |||||||
| chr1:92179033 | G | C | 1 | a0001c0001t0001g0066 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.2581+582G>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 16/17 | chr1 | 92179033 | |||||||
| chr1:92179245 | C | CA | 7 | a0003c0004t0001g0026 a0003c0004t0002g0001 a0003c0004t0002g0014 others(4): Show |
8 | HG01109.hp1 HG01891.hp1 HG02280.hp1 others(5): Show |
intron_variant | MODIFIER | c.2581+810dupA | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr1 | 92179245 | ||||||
| chr1:92179245 | CA | C | 103 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(100): Show |
106 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(103): Show |
intron_variant | MODIFIER | c.2581+810delA | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr1 | 92179245 | ||||||
| chr1:92179277 | A | G | 4 | a0001c0003t0003g0012 a0001c0003t0003g0013 a0006c0011t0001g0138 others(1): Show |
4 | HG00140.hp1 HG00423.hp2 HG02145.hp2 others(1): Show |
intron_variant | MODIFIER | c.2581+826A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 16/17 | chr1 | 92179277 | |||||||
| chr1:92179305 | TAAGG | T | 2 | a0009c0015t0001g0028 a0011c0014t0001g0112 |
2 | HG01891.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.2581+856_2581+859d others(6): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr1 | 92179305 | ||||||
| chr1:92179332 | T | C | 4 | a0001c0003t0004g0019 a0001c0003t0004g0020 a0001c0003t0004g0021 others(1): Show |
4 | HG02257.hp1 HG02451.hp1 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.2581+881T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 16/17 | chr1 | 92179332 | |||||||
| chr1:92179442 | G | A | 4 | a0001c0003t0004g0019 a0001c0003t0004g0020 a0001c0003t0004g0021 others(1): Show |
4 | HG02257.hp1 HG02451.hp1 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.2582-823G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 16/17 | chr1 | 92179442 | |||||||
| chr1:92179467 | T | G | 117 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(114): Show |
121 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(118): Show |
intron_variant | MODIFIER | c.2582-798T>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 16/17 | chr1 | 92179467 | |||||||
| chr1:92179474 | G | A | 5 | a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 others(2): Show |
5 | HG02258.hp2 HG02922.hp1 HG03041.hp2 others(2): Show |
intron_variant | MODIFIER | c.2582-791G>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 16/17 | chr1 | 92179474 | |||||||
| chr1:92179646 | C | T | 1 | a0002c0002t0001g0120 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.2582-619C>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 16/17 | chr1 | 92179646 | |||||||
| chr1:92179754 | A | G | 1 | a0002c0002t0001g0035 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.2582-511A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 16/17 | chr1 | 92179754 | |||||||
| chr1:92179997 | G | C | 118 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(115): Show |
122 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(119): Show |
intron_variant | MODIFIER | c.2582-268G>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 16/17 | chr1 | 92179997 | |||||||
| chr1:92180096 | T | C | 1 | a0001c0001t0001g0099 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.2582-169T>C | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 16/17 | chr1 | 92180096 | |||||||
| chr1:92183155 | A | G | 1 | a0006c0011t0001g0138 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.4912+560A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 17/17 | chr1 | 92183155 | |||||||
| chr1:92183535 | C | A | 2 | a0001c0003t0001g0029 a0010c0012t0001g0105 |
2 | HG03130.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.4913-329C>A | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 17/17 | chr1 | 92183535 | |||||||
| chr1:92183735 | A | T | 119 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(116): Show |
123 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(120): Show |
intron_variant | MODIFIER | c.4913-129A>T | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 17/17 | chr1 | 92183735 | |||||||
| chr1:92183755 | G | GT | 21 | a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 others(18): Show |
21 | HG00140.hp1 HG00423.hp2 HG02109.hp1 others(18): Show |
intron_variant | MODIFIER | c.4913-94dupT | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr1 | 92183755 | ||||||
| chr1:92183755 | G | GTT | 87 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(84): Show |
91 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(88): Show |
intron_variant | MODIFIER | c.4913-95_4913-94dup others(2): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr1 | 92183755 | ||||||
| chr1:92183755 | G | GTTT | 8 | a0001c0001t0001g0052 a0001c0001t0001g0093 a0001c0001t0001g0095 others(5): Show |
8 | HG01891.hp2 HG02723.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.4913-96_4913-94dup others(3): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr1 | 92183755 | ||||||
| chr1:92183778 | A | G | 119 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(116): Show |
123 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(120): Show |
intron_variant | MODIFIER | c.4913-86A>G | BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 17/17 | chr1 | 92183778 |