Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 166379 |
| ensemblid | ENSG00000181004.10 |
| hgncid | 26648 |
| symbol | BBS12 |
| name | Bardet-Biedl syndrome 12 |
| refseq_nuc | NM_152618.3 |
| refseq_prot | NP_689831.2 |
| ensembl_nuc | ENST00000314218.8 |
| ensembl_prot | ENSP00000319062.3 |
| mane_status | MANE Select |
| chr | chr4 |
| start | 122732704 |
| end | 122744939 |
| strand | + |
| ver | v1.2 |
| region | chr4:122732704-122744939 |
| region5000 | chr4:122727704-122749939 |
| regionname0 | BBS12_chr4_122732704_122744939 |
| regionname5000 | BBS12_chr4_122727704_122749939 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/0 | 710 | 152 | 31 | 26 | 79 | 3 | 13 | 65 | BBS12_chr4_122727704_122749939 | BBS12 | MVMAC others(705): Show |
chr4 | 122727704 | 122749939 |
| a0002 | 1/1 | 710 | 132 | 19 | 28 | 59 | 6 | 18 | 42 | BBS12_chr4_122727704_122749939 | BBS12 | MVMAC others(705): Show |
chr4 | 122727704 | 122749939 |
| a0003 | 0/0 | 710 | 23 | 8 | 7 | 0 | 3 | 5 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | MVMAC others(705): Show |
chr4 | 122727704 | 122749939 |
| a0004 | 0/0 | 710 | 18 | 14 | 4 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | MVMAC others(705): Show |
chr4 | 122727704 | 122749939 |
| a0005 | 0/0 | 710 | 12 | 10 | 2 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | MVMAC others(705): Show |
chr4 | 122727704 | 122749939 |
| a0006 | 0/0 | 710 | 5 | 0 | 0 | 5 | 0 | 0 | 4 | BBS12_chr4_122727704_122749939 | BBS12 | MVMAC others(705): Show |
chr4 | 122727704 | 122749939 |
| a0007 | 0/0 | 710 | 5 | 5 | 0 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | MVMAC others(705): Show |
chr4 | 122727704 | 122749939 |
| a0008 | 0/0 | 710 | 4 | 4 | 0 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | MVMAC others(705): Show |
chr4 | 122727704 | 122749939 |
| a0009 | 0/0 | 710 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | MVMAC others(705): Show |
chr4 | 122727704 | 122749939 |
| a0010 | 0/0 | 710 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | MVMAC others(705): Show |
chr4 | 122727704 | 122749939 |
| a0011 | 0/0 | 710 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | MVMAC others(705): Show |
chr4 | 122727704 | 122749939 |
| a0012 | 0/0 | 710 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | MVMAC others(705): Show |
chr4 | 122727704 | 122749939 |
| a0013 | 0/0 | 710 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | MVMAC others(705): Show |
chr4 | 122727704 | 122749939 |
| a0014 | 0/0 | 710 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | MVMAC others(705): Show |
chr4 | 122727704 | 122749939 |
| a0015 | 0/0 | 321 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | MVMAC others(316): Show |
chr4 | 122727704 | 122749939 |
| a0016 | 0/0 | 710 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | BBS12_chr4_122727704_122749939 | BBS12 | MVMAC others(705): Show |
chr4 | 122727704 | 122749939 |
| a0017 | 0/0 | 574 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | BBS12_chr4_122727704_122749939 | BBS12 | MVMAC others(569): Show |
chr4 | 122727704 | 122749939 |
| a0018 | 0/0 | 710 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | BBS12_chr4_122727704_122749939 | BBS12 | MVMAC others(705): Show |
chr4 | 122727704 | 122749939 |
| a0019 | 0/0 | 710 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | MVMAC others(705): Show |
chr4 | 122727704 | 122749939 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 2130 | 131 | 12 | 24 | 79 | 3 | 13 | BBS12_chr4_122727704_122749939 | BBS12 | ATGGT others(2125): Show |
chr4 | 122727704 | 122749939 | ||
| a0001c0006 | 0/0 | 2130 | 10 | 9 | 1 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | ATGGT others(2125): Show |
chr4 | 122727704 | 122749939 | ||
| a0001c0007 | 0/0 | 2130 | 9 | 8 | 1 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | ATGGT others(2125): Show |
chr4 | 122727704 | 122749939 | ||
| a0001c0016 | 0/0 | 2130 | 1 | 1 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | ATGGT others(2125): Show |
chr4 | 122727704 | 122749939 | ||
| a0001c0026 | 0/0 | 2130 | 1 | 1 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | ATGGT others(2125): Show |
chr4 | 122727704 | 122749939 | ||
| a0002c0002 | 1/1 | 2130 | 127 | 18 | 27 | 58 | 5 | 17 | BBS12_chr4_122727704_122749939 | BBS12 | ATGGT others(2125): Show |
chr4 | 122727704 | 122749939 | ||
| a0002c0012 | 0/0 | 2130 | 2 | 0 | 0 | 1 | 0 | 1 | BBS12_chr4_122727704_122749939 | BBS12 | ATGGT others(2125): Show |
chr4 | 122727704 | 122749939 | ||
| a0002c0020 | 0/0 | 2130 | 1 | 1 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | ATGGT others(2125): Show |
chr4 | 122727704 | 122749939 | ||
| a0002c0021 | 0/0 | 2130 | 1 | 0 | 1 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | ATGGT others(2125): Show |
chr4 | 122727704 | 122749939 | ||
| a0002c0024 | 0/0 | 2130 | 1 | 0 | 0 | 0 | 1 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | ATGGT others(2125): Show |
chr4 | 122727704 | 122749939 | ||
| a0003c0003 | 0/0 | 2130 | 23 | 8 | 7 | 0 | 3 | 5 | BBS12_chr4_122727704_122749939 | BBS12 | ATGGT others(2125): Show |
chr4 | 122727704 | 122749939 | ||
| a0004c0004 | 0/0 | 2130 | 18 | 14 | 4 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | ATGGT others(2125): Show |
chr4 | 122727704 | 122749939 | ||
| a0005c0005 | 0/0 | 2130 | 12 | 10 | 2 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | ATGGT others(2125): Show |
chr4 | 122727704 | 122749939 | ||
| a0006c0008 | 0/0 | 2130 | 5 | 0 | 0 | 5 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | ATGGT others(2125): Show |
chr4 | 122727704 | 122749939 | ||
| a0007c0009 | 0/0 | 2130 | 5 | 5 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | ATGGT others(2125): Show |
chr4 | 122727704 | 122749939 | ||
| a0008c0010 | 0/0 | 2130 | 4 | 4 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | ATGGT others(2125): Show |
chr4 | 122727704 | 122749939 | ||
| a0009c0013 | 0/0 | 2130 | 2 | 2 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | ATGGT others(2125): Show |
chr4 | 122727704 | 122749939 | ||
| a0010c0011 | 0/0 | 2130 | 2 | 2 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | ATGGT others(2125): Show |
chr4 | 122727704 | 122749939 | ||
| a0011c0027 | 0/0 | 2130 | 1 | 0 | 1 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | ATGGT others(2125): Show |
chr4 | 122727704 | 122749939 | ||
| a0012c0014 | 0/0 | 2130 | 1 | 0 | 1 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | ATGGT others(2125): Show |
chr4 | 122727704 | 122749939 | ||
| a0013c0018 | 0/0 | 2130 | 1 | 0 | 1 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | ATGGT others(2125): Show |
chr4 | 122727704 | 122749939 | ||
| a0014c0017 | 0/0 | 2130 | 1 | 1 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | ATGGT others(2125): Show |
chr4 | 122727704 | 122749939 | ||
| a0015c0015 | 0/0 | 2164 | 1 | 1 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | ATGGT others(2159): Show |
chr4 | 122727704 | 122749939 | ||
| a0016c0025 | 0/0 | 2130 | 1 | 0 | 0 | 1 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | ATGGT others(2125): Show |
chr4 | 122727704 | 122749939 | ||
| a0017c0023 | 0/0 | 2130 | 1 | 0 | 0 | 1 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | ATGGT others(2125): Show |
chr4 | 122727704 | 122749939 | ||
| a0018c0019 | 0/0 | 2130 | 1 | 0 | 0 | 1 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | ATGGT others(2125): Show |
chr4 | 122727704 | 122749939 | ||
| a0019c0022 | 0/0 | 2130 | 1 | 1 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | ATGGT others(2125): Show |
chr4 | 122727704 | 122749939 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 3238 | 131 | 12 | 24 | 79 | 3 | 13 | BBS12_chr4_122727704_122749939 | BBS12 | CTCTT others(3233): Show |
chr4 | 122727704 | 122749939 |
| a0001c0006t0004 | 0/0 | 3238 | 10 | 9 | 1 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | CTCTT others(3233): Show |
chr4 | 122727704 | 122749939 |
| a0001c0007t0005 | 0/0 | 3239 | 8 | 7 | 1 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | CTCTT others(3234): Show |
chr4 | 122727704 | 122749939 |
| a0001c0007t0008 | 0/0 | 3239 | 1 | 1 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | CTCTT others(3234): Show |
chr4 | 122727704 | 122749939 |
| a0001c0016t0007 | 0/0 | 3239 | 1 | 1 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | CTCTT others(3234): Show |
chr4 | 122727704 | 122749939 |
| a0001c0026t0001 | 0/0 | 3238 | 1 | 1 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | CTCTT others(3233): Show |
chr4 | 122727704 | 122749939 |
| a0002c0002t0002 | 1/1 | 3238 | 125 | 18 | 26 | 58 | 5 | 16 | BBS12_chr4_122727704_122749939 | BBS12 | CTCTT others(3233): Show |
chr4 | 122727704 | 122749939 |
| a0002c0002t0009 | 0/0 | 3238 | 1 | 0 | 0 | 0 | 0 | 1 | BBS12_chr4_122727704_122749939 | BBS12 | CTCTT others(3233): Show |
chr4 | 122727704 | 122749939 |
| a0002c0002t0010 | 0/0 | 3238 | 1 | 0 | 1 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | CTCTT others(3233): Show |
chr4 | 122727704 | 122749939 |
| a0002c0012t0001 | 0/0 | 3238 | 1 | 0 | 0 | 1 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | CTCTT others(3233): Show |
chr4 | 122727704 | 122749939 |
| a0002c0012t0002 | 0/0 | 3238 | 1 | 0 | 0 | 0 | 0 | 1 | BBS12_chr4_122727704_122749939 | BBS12 | CTCTT others(3233): Show |
chr4 | 122727704 | 122749939 |
| a0002c0020t0002 | 0/0 | 3238 | 1 | 1 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | CTCTT others(3233): Show |
chr4 | 122727704 | 122749939 |
| a0002c0021t0002 | 0/0 | 3238 | 1 | 0 | 1 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | CTCTT others(3233): Show |
chr4 | 122727704 | 122749939 |
| a0002c0024t0002 | 0/0 | 3238 | 1 | 0 | 0 | 0 | 1 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | CTCTT others(3233): Show |
chr4 | 122727704 | 122749939 |
| a0003c0003t0003 | 0/0 | 3239 | 23 | 8 | 7 | 0 | 3 | 5 | BBS12_chr4_122727704_122749939 | BBS12 | CTCTT others(3234): Show |
chr4 | 122727704 | 122749939 |
| a0004c0004t0001 | 0/0 | 3238 | 18 | 14 | 4 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | CTCTT others(3233): Show |
chr4 | 122727704 | 122749939 |
| a0005c0005t0001 | 0/0 | 3238 | 12 | 10 | 2 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | CTCTT others(3233): Show |
chr4 | 122727704 | 122749939 |
| a0006c0008t0001 | 0/0 | 3238 | 5 | 0 | 0 | 5 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | CTCTT others(3233): Show |
chr4 | 122727704 | 122749939 |
| a0007c0009t0004 | 0/0 | 3238 | 5 | 5 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | CTCTT others(3233): Show |
chr4 | 122727704 | 122749939 |
| a0008c0010t0001 | 0/0 | 3238 | 4 | 4 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | CTCTT others(3233): Show |
chr4 | 122727704 | 122749939 |
| a0009c0013t0005 | 0/0 | 3239 | 2 | 2 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | CTCTT others(3234): Show |
chr4 | 122727704 | 122749939 |
| a0010c0011t0003 | 0/0 | 3239 | 1 | 1 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | CTCTT others(3234): Show |
chr4 | 122727704 | 122749939 |
| a0010c0011t0006 | 0/0 | 3238 | 1 | 1 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | CTCTT others(3233): Show |
chr4 | 122727704 | 122749939 |
| a0011c0027t0001 | 0/0 | 3238 | 1 | 0 | 1 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | CTCTT others(3233): Show |
chr4 | 122727704 | 122749939 |
| a0012c0014t0002 | 0/0 | 3238 | 1 | 0 | 1 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | CTCTT others(3233): Show |
chr4 | 122727704 | 122749939 |
| a0013c0018t0001 | 0/0 | 3238 | 1 | 0 | 1 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | CTCTT others(3233): Show |
chr4 | 122727704 | 122749939 |
| a0014c0017t0001 | 0/0 | 3238 | 1 | 1 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | CTCTT others(3233): Show |
chr4 | 122727704 | 122749939 |
| a0015c0015t0001 | 0/0 | 3272 | 1 | 1 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | CTCTT others(3267): Show |
chr4 | 122727704 | 122749939 |
| a0016c0025t0002 | 0/0 | 3238 | 1 | 0 | 0 | 1 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | CTCTT others(3233): Show |
chr4 | 122727704 | 122749939 |
| a0017c0023t0002 | 0/0 | 3238 | 1 | 0 | 0 | 1 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | CTCTT others(3233): Show |
chr4 | 122727704 | 122749939 |
| a0018c0019t0001 | 0/0 | 3238 | 1 | 0 | 0 | 1 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | CTCTT others(3233): Show |
chr4 | 122727704 | 122749939 |
| a0019c0022t0002 | 0/0 | 3238 | 1 | 1 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | CTCTT others(3233): Show |
chr4 | 122727704 | 122749939 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 0/0 | 46 | 1 | 8 | 31 | 0 | 6 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0001c0001t0001g0003 | 0/0 | 16 | 3 | 5 | 7 | 0 | 1 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0001c0001t0001g0005 | 0/0 | 11 | 0 | 3 | 6 | 0 | 2 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0001c0001t0001g0009 | 0/0 | 8 | 0 | 2 | 5 | 0 | 1 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0001c0001t0001g0010 | 0/0 | 7 | 0 | 1 | 5 | 0 | 1 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0001c0001t0001g0016 | 0/0 | 6 | 0 | 2 | 4 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0001c0001t0001g0020 | 0/0 | 5 | 0 | 0 | 4 | 1 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0001c0001t0001g0024 | 0/0 | 4 | 1 | 0 | 3 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0001c0001t0001g0027 | 0/0 | 3 | 0 | 0 | 2 | 0 | 1 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0001c0001t0001g0028 | 0/0 | 3 | 0 | 1 | 0 | 2 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0001c0001t0001g0037 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0001c0001t0001g0038 | 0/0 | 2 | 0 | 1 | 1 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0001c0001t0001g0039 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0001c0001t0001g0040 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0001c0001t0001g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0001c0001t0001g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0001c0001t0001g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0001c0001t0001g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0001c0001t0001g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0001c0001t0001g0075 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0001c0001t0001g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0001c0001t0001g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0001c0001t0001g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0001c0001t0001g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0001c0001t0001g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0001c0001t0001g0092 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0001c0001t0001g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0001c0001t0001g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0001c0006t0004g0013 | 0/0 | 7 | 6 | 1 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0001c0006t0004g0043 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0001c0006t0004g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0001c0007t0005g0023 | 0/0 | 4 | 3 | 1 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0001c0007t0005g0045 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0001c0007t0005g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0001c0007t0005g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0001c0007t0008g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0001c0016t0007g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0001c0026t0001g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0002c0002t0002g0002 | 0/0 | 20 | 1 | 3 | 12 | 0 | 4 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0002c0002t0002g0004 | 0/0 | 13 | 0 | 3 | 10 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0002c0002t0002g0008 | 0/0 | 9 | 2 | 1 | 4 | 1 | 1 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0002c0002t0002g0011 | 0/0 | 8 | 0 | 2 | 6 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0002c0002t0002g0014 | 0/0 | 6 | 0 | 0 | 6 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0002c0002t0002g0015 | 0/0 | 7 | 0 | 4 | 1 | 1 | 1 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0002c0002t0002g0017 | 0/0 | 6 | 4 | 1 | 1 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0002c0002t0002g0018 | 0/0 | 5 | 0 | 2 | 2 | 1 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0002c0002t0002g0019 | 0/0 | 4 | 1 | 0 | 2 | 0 | 1 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0002c0002t0002g0022 | 1/0 | 5 | 0 | 2 | 1 | 0 | 1 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0002c0002t0002g0025 | 0/0 | 3 | 0 | 1 | 1 | 0 | 1 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0002c0002t0002g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0002c0002t0002g0030 | 0/0 | 3 | 0 | 0 | 1 | 1 | 1 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0002c0002t0002g0031 | 0/0 | 3 | 1 | 2 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0002c0002t0002g0032 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0002c0002t0002g0033 | 0/0 | 3 | 2 | 0 | 0 | 1 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0002c0002t0002g0042 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0002c0002t0002g0046 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0002c0002t0002g0047 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0002c0002t0002g0048 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0002c0002t0002g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0002c0002t0002g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0002c0002t0002g0096 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0002c0002t0002g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0002c0002t0002g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0002c0002t0002g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0002c0002t0002g0100 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0002c0002t0002g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0002c0002t0002g0102 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0002c0002t0002g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0002c0002t0002g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0002c0002t0002g0105 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0002c0002t0002g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0002c0002t0002g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0002c0002t0002g0109 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0002c0002t0002g0110 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0002c0002t0002g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0002c0002t0002g0112 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0002c0002t0002g0114 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0002c0002t0009g0032 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0002c0002t0010g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0002c0012t0001g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0002c0012t0002g0018 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0002c0020t0002g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0002c0021t0002g0002 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0002c0024t0002g0107 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0003c0003t0003g0007 | 0/0 | 9 | 2 | 3 | 0 | 3 | 1 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0003c0003t0003g0036 | 0/0 | 2 | 1 | 0 | 0 | 0 | 1 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0003c0003t0003g0041 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0003c0003t0003g0060 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0003c0003t0003g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0003c0003t0003g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0003c0003t0003g0063 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0003c0003t0003g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0003c0003t0003g0067 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0003c0003t0003g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0003c0003t0003g0074 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0003c0003t0003g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0003c0003t0003g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0004c0004t0001g0006 | 0/0 | 10 | 7 | 3 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0004c0004t0001g0026 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0004c0004t0001g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0004c0004t0001g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0004c0004t0001g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0004c0004t0001g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0004c0004t0001g0115 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0005c0005t0001g0012 | 0/0 | 7 | 7 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0005c0005t0001g0034 | 0/0 | 2 | 1 | 1 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0005c0005t0001g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0005c0005t0001g0052 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0005c0005t0001g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0006c0008t0001g0001 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0006c0008t0001g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0006c0008t0001g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0007c0009t0004g0021 | 0/0 | 5 | 5 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0008c0010t0001g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0008c0010t0001g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0008c0010t0001g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0008c0010t0001g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0009c0013t0005g0035 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0010c0011t0003g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0010c0011t0006g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0011c0027t0001g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0012c0014t0002g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0013c0018t0001g0001 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0014c0017t0001g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0015c0015t0001g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0016c0025t0002g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0017c0023t0002g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0018c0019t0001g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| a0019c0022t0002g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0003 | c0003 | t0003 | g0007 | EUR | GBR | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG00099 | hp2 | a0002 | c0002 | t0002 | g0015 | EUR | GBR | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG00323 | hp1 | a0002 | c0002 | t0002 | g0018 | EUR | FIN | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG00323 | hp2 | a0001 | c0001 | t0001 | g0020 | EUR | FIN | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG00423 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG00423 | hp2 | a0002 | c0002 | t0002 | g0030 | EAS | CHS | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG00544 | hp1 | a0006 | c0008 | t0001 | g0001 | EAS | CHS | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG00544 | hp2 | a0001 | c0001 | t0001 | g0010 | EAS | CHS | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG00558 | hp1 | a0002 | c0002 | t0002 | g0011 | EAS | CHS | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG00558 | hp2 | a0001 | c0001 | t0001 | g0024 | EAS | CHS | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG00597 | hp1 | a0002 | c0002 | t0002 | g0019 | EAS | CHS | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG00597 | hp2 | a0002 | c0002 | t0002 | g0014 | EAS | CHS | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG00621 | hp1 | a0002 | c0002 | t0002 | g0004 | EAS | CHS | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG00621 | hp2 | a0001 | c0001 | t0001 | g0005 | EAS | CHS | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG00639 | hp1 | a0002 | c0002 | t0002 | g0015 | AMR | PUR | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG00639 | hp2 | a0002 | c0002 | t0002 | g0011 | AMR | PUR | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG00642 | hp1 | a0003 | c0003 | t0003 | g0007 | AMR | PUR | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG00642 | hp2 | a0002 | c0021 | t0002 | g0002 | AMR | PUR | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG00733 | hp1 | a0002 | c0002 | t0002 | g0004 | AMR | PUR | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG00733 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG00735 | hp1 | a0003 | c0003 | t0003 | g0064 | AMR | PUR | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG00735 | hp2 | a0005 | c0005 | t0001 | g0034 | AMR | PUR | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG00738 | hp1 | a0002 | c0002 | t0002 | g0015 | AMR | PUR | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG00738 | hp2 | a0011 | c0027 | t0001 | g0054 | AMR | PUR | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG00741 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG00741 | hp2 | a0002 | c0002 | t0002 | g0112 | AMR | PUR | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01069 | hp1 | a0001 | c0001 | t0001 | g0016 | AMR | PUR | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01069 | hp2 | a0002 | c0002 | t0002 | g0100 | AMR | PUR | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01070 | hp1 | a0001 | c0001 | t0001 | g0009 | AMR | PUR | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01070 | hp2 | a0002 | c0002 | t0002 | g0004 | AMR | PUR | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01081 | hp1 | a0002 | c0002 | t0002 | g0022 | AMR | PUR | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01081 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01106 | hp1 | a0002 | c0002 | t0002 | g0018 | AMR | PUR | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01106 | hp2 | a0003 | c0003 | t0003 | g0063 | AMR | PUR | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01109 | hp1 | a0003 | c0003 | t0003 | g0007 | AMR | PUR | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01109 | hp2 | a0004 | c0004 | t0001 | g0006 | AMR | PUR | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01167 | hp1 | a0001 | c0001 | t0001 | g0005 | AMR | PUR | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01167 | hp2 | a0002 | c0002 | t0002 | g0002 | AMR | PUR | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01168 | hp1 | a0002 | c0002 | t0002 | g0002 | AMR | PUR | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01168 | hp2 | a0004 | c0004 | t0001 | g0006 | AMR | PUR | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01169 | hp1 | a0004 | c0004 | t0001 | g0006 | AMR | PUR | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01169 | hp2 | a0001 | c0001 | t0001 | g0005 | AMR | PUR | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01175 | hp1 | a0002 | c0002 | t0002 | g0015 | AMR | PUR | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01175 | hp2 | a0001 | c0001 | t0001 | g0003 | AMR | PUR | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01192 | hp1 | a0005 | c0005 | t0001 | g0052 | AMR | PUR | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01192 | hp2 | a0002 | c0002 | t0002 | g0015 | AMR | PUR | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01243 | hp1 | a0001 | c0006 | t0004 | g0013 | AMR | PUR | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01243 | hp2 | a0003 | c0003 | t0003 | g0007 | AMR | PUR | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01255 | hp1 | a0001 | c0001 | t0001 | g0003 | AMR | CLM | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01255 | hp2 | a0002 | c0002 | t0002 | g0017 | AMR | CLM | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01256 | hp1 | a0002 | c0002 | t0002 | g0008 | AMR | CLM | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01256 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01258 | hp1 | a0002 | c0002 | t0002 | g0114 | AMR | CLM | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01258 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01261 | hp1 | a0012 | c0014 | t0002 | g0019 | AMR | CLM | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01261 | hp2 | a0003 | c0003 | t0003 | g0062 | AMR | CLM | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01358 | hp1 | a0002 | c0002 | t0002 | g0022 | AMR | CLM | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01358 | hp2 | a0001 | c0001 | t0001 | g0010 | AMR | CLM | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01361 | hp1 | a0001 | c0001 | t0001 | g0028 | AMR | CLM | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01361 | hp2 | a0001 | c0007 | t0005 | g0023 | AMR | CLM | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01433 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01433 | hp2 | a0002 | c0002 | t0002 | g0102 | AMR | CLM | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01496 | hp1 | a0002 | c0002 | t0002 | g0018 | AMR | CLM | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01496 | hp2 | a0002 | c0002 | t0010 | g0025 | AMR | CLM | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01515 | hp1 | a0001 | c0001 | t0001 | g0028 | EUR | IBS | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01515 | hp2 | a0002 | c0002 | t0002 | g0030 | EUR | IBS | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01517 | hp1 | a0001 | c0001 | t0001 | g0028 | EUR | IBS | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01517 | hp2 | a0002 | c0002 | t0002 | g0008 | EUR | IBS | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01884 | hp1 | a0004 | c0004 | t0001 | g0006 | AFR | ACB | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01884 | hp2 | a0002 | c0002 | t0002 | g0008 | AFR | ACB | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01891 | hp1 | a0003 | c0003 | t0003 | g0076 | AFR | ACB | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01891 | hp2 | a0004 | c0004 | t0001 | g0056 | AFR | ACB | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01928 | hp1 | a0001 | c0001 | t0001 | g0009 | AMR | PEL | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01928 | hp2 | a0002 | c0002 | t0002 | g0011 | AMR | PEL | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01943 | hp1 | a0002 | c0002 | t0002 | g0096 | AMR | PEL | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01943 | hp2 | a0001 | c0001 | t0001 | g0038 | AMR | PEL | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01952 | hp1 | a0001 | c0001 | t0001 | g0003 | AMR | PEL | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01952 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01975 | hp1 | a0001 | c0001 | t0001 | g0005 | AMR | PEL | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01975 | hp2 | a0004 | c0004 | t0001 | g0115 | AMR | PEL | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01978 | hp1 | a0001 | c0001 | t0001 | g0075 | AMR | PEL | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01978 | hp2 | a0002 | c0002 | t0002 | g0025 | AMR | PEL | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01981 | hp1 | a0002 | c0002 | t0002 | g0004 | AMR | PEL | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01981 | hp2 | a0001 | c0001 | t0001 | g0016 | AMR | PEL | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01993 | hp1 | a0013 | c0018 | t0001 | g0001 | AMR | PEL | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG01993 | hp2 | a0002 | c0002 | t0002 | g0031 | AMR | PEL | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02004 | hp1 | a0001 | c0001 | t0001 | g0003 | AMR | PEL | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02004 | hp2 | a0002 | c0002 | t0002 | g0002 | AMR | PEL | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02027 | hp1 | a0001 | c0001 | t0001 | g0010 | EAS | KHV | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02027 | hp2 | a0002 | c0002 | t0002 | g0002 | EAS | KHV | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02055 | hp1 | a0008 | c0010 | t0001 | g0073 | AFR | ACB | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02055 | hp2 | a0001 | c0006 | t0004 | g0013 | AFR | ACB | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02056 | hp1 | a0001 | c0001 | t0001 | g0010 | EAS | KHV | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02056 | hp2 | a0002 | c0002 | t0002 | g0104 | EAS | KHV | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02074 | hp1 | a0002 | c0002 | t0002 | g0014 | EAS | KHV | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02074 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02080 | hp1 | a0002 | c0002 | t0002 | g0101 | EAS | KHV | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02080 | hp2 | a0002 | c0002 | t0002 | g0004 | EAS | KHV | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02083 | hp1 | a0001 | c0001 | t0001 | g0038 | EAS | KHV | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02083 | hp2 | a0002 | c0002 | t0002 | g0111 | EAS | KHV | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02129 | hp1 | a0001 | c0001 | t0001 | g0087 | EAS | KHV | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02129 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | KHV | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02132 | hp1 | a0002 | c0002 | t0002 | g0022 | EAS | KHV | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02132 | hp2 | a0001 | c0001 | t0001 | g0005 | EAS | KHV | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02145 | hp1 | a0002 | c0002 | t0002 | g0017 | AFR | ACB | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02145 | hp2 | a0001 | c0006 | t0004 | g0013 | AFR | ACB | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02148 | hp1 | a0003 | c0003 | t0003 | g0061 | AMR | PEL | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02148 | hp2 | a0002 | c0002 | t0002 | g0031 | AMR | PEL | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02155 | hp1 | a0001 | c0001 | t0001 | g0016 | EAS | CDX | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02155 | hp2 | a0002 | c0002 | t0002 | g0004 | EAS | CDX | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02165 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | CDX | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02165 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | CDX | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02257 | hp1 | a0007 | c0009 | t0004 | g0021 | AFR | ACB | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02257 | hp2 | a0001 | c0001 | t0001 | g0003 | AFR | ACB | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02258 | hp1 | a0007 | c0009 | t0004 | g0021 | AFR | ACB | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02258 | hp2 | a0003 | c0003 | t0003 | g0007 | AFR | ACB | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02280 | hp1 | a0005 | c0005 | t0001 | g0051 | AFR | ACB | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02280 | hp2 | a0005 | c0005 | t0001 | g0012 | AFR | ACB | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02300 | hp1 | a0001 | c0001 | t0001 | g0003 | AMR | PEL | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02300 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02451 | hp1 | a0005 | c0005 | t0001 | g0034 | AFR | ACB | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02451 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02572 | hp1 | a0003 | c0003 | t0003 | g0041 | AFR | GWD | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02572 | hp2 | a0001 | c0007 | t0005 | g0023 | AFR | GWD | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02602 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02602 | hp2 | a0002 | c0002 | t0002 | g0002 | SAS | PJL | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02615 | hp1 | a0002 | c0002 | t0002 | g0106 | AFR | GWD | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02615 | hp2 | a0004 | c0004 | t0001 | g0006 | AFR | GWD | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02622 | hp1 | a0001 | c0001 | t0001 | g0039 | AFR | GWD | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02622 | hp2 | a0002 | c0002 | t0002 | g0088 | AFR | GWD | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02630 | hp1 | a0001 | c0007 | t0008 | g0089 | AFR | GWD | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02630 | hp2 | a0014 | c0017 | t0001 | g0050 | AFR | GWD | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02717 | hp1 | a0008 | c0010 | t0001 | g0083 | AFR | GWD | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02717 | hp2 | a0002 | c0002 | t0002 | g0017 | AFR | GWD | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02723 | hp1 | a0005 | c0005 | t0001 | g0012 | AFR | GWD | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02723 | hp2 | a0007 | c0009 | t0004 | g0021 | AFR | GWD | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02735 | hp1 | a0002 | c0002 | t0002 | g0048 | SAS | PJL | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02735 | hp2 | a0003 | c0003 | t0003 | g0060 | SAS | PJL | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02738 | hp1 | a0003 | c0003 | t0003 | g0036 | SAS | PJL | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02738 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02809 | hp1 | a0002 | c0002 | t0002 | g0033 | AFR | GWD | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02809 | hp2 | a0001 | c0001 | t0001 | g0037 | AFR | GWD | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02818 | hp1 | a0004 | c0004 | t0001 | g0006 | AFR | GWD | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02818 | hp2 | a0001 | c0006 | t0004 | g0043 | AFR | GWD | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02886 | hp1 | a0001 | c0007 | t0005 | g0023 | AFR | GWD | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02886 | hp2 | a0004 | c0004 | t0001 | g0026 | AFR | GWD | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02895 | hp1 | a0003 | c0003 | t0003 | g0041 | AFR | GWD | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02895 | hp2 | a0002 | c0002 | t0002 | g0042 | AFR | GWD | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02896 | hp1 | a0005 | c0005 | t0001 | g0012 | AFR | GWD | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02896 | hp2 | a0001 | c0026 | t0001 | g0066 | AFR | GWD | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02897 | hp1 | a0005 | c0005 | t0001 | g0012 | AFR | GWD | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02897 | hp2 | a0002 | c0002 | t0002 | g0042 | AFR | GWD | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02922 | hp1 | a0015 | c0015 | t0001 | g0082 | AFR | ESN | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02922 | hp2 | a0001 | c0007 | t0005 | g0023 | AFR | ESN | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02965 | hp1 | a0004 | c0004 | t0001 | g0055 | AFR | ESN | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02965 | hp2 | a0009 | c0013 | t0005 | g0035 | AFR | ESN | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02970 | hp1 | a0002 | c0002 | t0002 | g0002 | AFR | ESN | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02970 | hp2 | a0001 | c0001 | t0001 | g0039 | AFR | ESN | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02976 | hp1 | a0002 | c0020 | t0002 | g0029 | AFR | ESN | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02976 | hp2 | a0001 | c0006 | t0004 | g0013 | AFR | ESN | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG03041 | hp1 | a0001 | c0006 | t0004 | g0043 | AFR | GWD | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG03041 | hp2 | a0001 | c0001 | t0001 | g0065 | AFR | GWD | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG03098 | hp1 | a0003 | c0003 | t0003 | g0036 | AFR | MSL | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG03098 | hp2 | a0002 | c0002 | t0002 | g0017 | AFR | MSL | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG03130 | hp1 | a0007 | c0009 | t0004 | g0021 | AFR | ESN | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG03130 | hp2 | a0001 | c0006 | t0004 | g0086 | AFR | ESN | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG03139 | hp1 | a0001 | c0001 | t0001 | g0085 | AFR | ESN | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG03139 | hp2 | a0010 | c0011 | t0003 | g0077 | AFR | ESN | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG03195 | hp1 | a0003 | c0003 | t0003 | g0080 | AFR | ESN | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG03195 | hp2 | a0002 | c0002 | t0002 | g0031 | AFR | ESN | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG03209 | hp1 | a0001 | c0006 | t0004 | g0013 | AFR | MSL | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG03209 | hp2 | a0001 | c0001 | t0001 | g0003 | AFR | MSL | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG03225 | hp1 | a0009 | c0013 | t0005 | g0035 | AFR | MSL | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG03225 | hp2 | a0004 | c0004 | t0001 | g0006 | AFR | MSL | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG03239 | hp1 | a0002 | c0002 | t0002 | g0022 | SAS | PJL | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG03239 | hp2 | a0003 | c0003 | t0003 | g0007 | SAS | PJL | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG03453 | hp1 | a0004 | c0004 | t0001 | g0058 | AFR | MSL | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG03453 | hp2 | a0008 | c0010 | t0001 | g0069 | AFR | MSL | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG03486 | hp1 | a0008 | c0010 | t0001 | g0078 | AFR | MSL | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG03486 | hp2 | a0003 | c0003 | t0003 | g0068 | AFR | MSL | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG03492 | hp1 | a0002 | c0002 | t0002 | g0032 | SAS | PJL | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG03492 | hp2 | a0001 | c0001 | t0001 | g0005 | SAS | PJL | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG03516 | hp1 | a0001 | c0006 | t0004 | g0013 | AFR | ESN | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG03516 | hp2 | a0001 | c0001 | t0001 | g0037 | AFR | ESN | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG03540 | hp1 | a0005 | c0005 | t0001 | g0012 | AFR | GWD | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG03540 | hp2 | a0002 | c0002 | t0002 | g0017 | AFR | GWD | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG03579 | hp1 | a0005 | c0005 | t0001 | g0012 | AFR | MSL | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG03579 | hp2 | a0004 | c0004 | t0001 | g0057 | AFR | MSL | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG03669 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG03669 | hp2 | a0002 | c0012 | t0002 | g0018 | SAS | PJL | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG03688 | hp1 | a0001 | c0001 | t0001 | g0010 | SAS | STU | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG03688 | hp2 | a0002 | c0002 | t0002 | g0002 | SAS | STU | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG03704 | hp1 | a0002 | c0002 | t0002 | g0002 | SAS | PJL | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG03704 | hp2 | a0003 | c0003 | t0003 | g0067 | SAS | PJL | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG03710 | hp1 | a0001 | c0001 | t0001 | g0009 | SAS | PJL | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG03710 | hp2 | a0002 | c0002 | t0002 | g0109 | SAS | PJL | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG03831 | hp1 | a0001 | c0001 | t0001 | g0003 | SAS | BEB | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG03831 | hp2 | a0002 | c0002 | t0002 | g0002 | SAS | BEB | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG03834 | hp1 | a0002 | c0002 | t0002 | g0025 | SAS | BEB | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG03834 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | BEB | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG03927 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | BEB | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG03927 | hp2 | a0002 | c0002 | t0002 | g0048 | SAS | BEB | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG03942 | hp1 | a0002 | c0002 | t0002 | g0008 | SAS | BEB | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG03942 | hp2 | a0001 | c0001 | t0001 | g0005 | SAS | BEB | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG04115 | hp1 | a0002 | c0002 | t0002 | g0110 | SAS | STU | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG04115 | hp2 | a0001 | c0001 | t0001 | g0092 | SAS | STU | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG04184 | hp1 | a0002 | c0002 | t0009 | g0032 | SAS | BEB | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG04184 | hp2 | a0003 | c0003 | t0003 | g0074 | SAS | BEB | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG04199 | hp1 | a0002 | c0002 | t0002 | g0015 | SAS | STU | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG04199 | hp2 | a0002 | c0002 | t0002 | g0032 | SAS | STU | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG04204 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | STU | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG04204 | hp2 | a0002 | c0002 | t0002 | g0019 | SAS | STU | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18522 | hp1 | a0004 | c0004 | t0001 | g0006 | AFR | YRI | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18522 | hp2 | a0001 | c0007 | t0005 | g0045 | AFR | YRI | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18612 | hp1 | a0002 | c0002 | t0002 | g0108 | EAS | CHB | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18612 | hp2 | a0002 | c0002 | t0002 | g0002 | EAS | CHB | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18747 | hp1 | a0002 | c0002 | t0002 | g0004 | EAS | CHB | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18747 | hp2 | a0002 | c0002 | t0002 | g0046 | EAS | CHB | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18906 | hp1 | a0004 | c0004 | t0001 | g0026 | AFR | YRI | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18906 | hp2 | a0001 | c0007 | t0005 | g0045 | AFR | YRI | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18939 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18939 | hp2 | a0002 | c0002 | t0002 | g0103 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18940 | hp1 | a0001 | c0001 | t0001 | g0009 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18940 | hp2 | a0002 | c0002 | t0002 | g0017 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18941 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18941 | hp2 | a0002 | c0002 | t0002 | g0008 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18942 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18942 | hp2 | a0002 | c0002 | t0002 | g0002 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18945 | hp1 | a0001 | c0001 | t0001 | g0005 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18945 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18946 | hp1 | a0002 | c0002 | t0002 | g0002 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18946 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18947 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18947 | hp2 | a0002 | c0002 | t0002 | g0011 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18948 | hp1 | a0001 | c0001 | t0001 | g0084 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18948 | hp2 | a0002 | c0002 | t0002 | g0011 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18950 | hp1 | a0001 | c0001 | t0001 | g0081 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18950 | hp2 | a0001 | c0001 | t0001 | g0016 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18951 | hp1 | a0002 | c0002 | t0002 | g0002 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18951 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18952 | hp1 | a0002 | c0002 | t0002 | g0002 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18952 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18957 | hp1 | a0001 | c0001 | t0001 | g0009 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18957 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18959 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18959 | hp2 | a0001 | c0001 | t0001 | g0024 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18960 | hp1 | a0002 | c0002 | t0002 | g0004 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18960 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18961 | hp1 | a0001 | c0001 | t0001 | g0024 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18961 | hp2 | a0001 | c0001 | t0001 | g0027 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18962 | hp1 | a0002 | c0002 | t0002 | g0004 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18962 | hp2 | a0001 | c0001 | t0001 | g0020 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18963 | hp1 | a0016 | c0025 | t0002 | g0019 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18963 | hp2 | a0001 | c0001 | t0001 | g0009 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18964 | hp1 | a0002 | c0002 | t0002 | g0004 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18964 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18966 | hp1 | a0002 | c0002 | t0002 | g0002 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18966 | hp2 | a0001 | c0001 | t0001 | g0027 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18968 | hp1 | a0002 | c0002 | t0002 | g0019 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18968 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18971 | hp1 | a0006 | c0008 | t0001 | g0001 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18971 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18974 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18974 | hp2 | a0002 | c0002 | t0002 | g0014 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18979 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18979 | hp2 | a0002 | c0002 | t0002 | g0046 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18981 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18981 | hp2 | a0002 | c0002 | t0002 | g0095 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18983 | hp1 | a0001 | c0001 | t0001 | g0071 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18983 | hp2 | a0001 | c0001 | t0001 | g0094 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18984 | hp1 | a0002 | c0002 | t0002 | g0097 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18984 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18986 | hp1 | a0002 | c0012 | t0001 | g0010 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18986 | hp2 | a0001 | c0001 | t0001 | g0010 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18988 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18988 | hp2 | a0002 | c0002 | t0002 | g0029 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18990 | hp1 | a0002 | c0002 | t0002 | g0002 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18990 | hp2 | a0001 | c0001 | t0001 | g0040 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18995 | hp1 | a0002 | c0002 | t0002 | g0014 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18995 | hp2 | a0001 | c0001 | t0001 | g0005 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18999 | hp1 | a0002 | c0002 | t0002 | g0002 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18999 | hp2 | a0001 | c0001 | t0001 | g0009 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19002 | hp1 | a0001 | c0001 | t0001 | g0010 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19002 | hp2 | a0001 | c0001 | t0001 | g0044 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19003 | hp1 | a0001 | c0001 | t0001 | g0093 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19003 | hp2 | a0017 | c0023 | t0002 | g0014 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19004 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19004 | hp2 | a0002 | c0002 | t0002 | g0004 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19007 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19007 | hp2 | a0002 | c0002 | t0002 | g0011 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19010 | hp1 | a0002 | c0002 | t0002 | g0099 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19010 | hp2 | a0001 | c0001 | t0001 | g0016 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19011 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19011 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19030 | hp1 | a0003 | c0003 | t0003 | g0007 | AFR | LWK | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19030 | hp2 | a0001 | c0001 | t0001 | g0003 | AFR | LWK | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19043 | hp1 | a0001 | c0001 | t0001 | g0091 | AFR | LWK | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19043 | hp2 | a0001 | c0016 | t0007 | g0049 | AFR | LWK | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19054 | hp1 | a0002 | c0002 | t0002 | g0025 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19054 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19056 | hp1 | a0002 | c0002 | t0002 | g0011 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19056 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19059 | hp1 | a0001 | c0001 | t0001 | g0009 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19059 | hp2 | a0002 | c0002 | t0002 | g0008 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19062 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19062 | hp2 | a0006 | c0008 | t0001 | g0001 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19063 | hp1 | a0002 | c0002 | t0002 | g0018 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19063 | hp2 | a0001 | c0001 | t0001 | g0020 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19064 | hp1 | a0002 | c0002 | t0002 | g0004 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19064 | hp2 | a0001 | c0001 | t0001 | g0005 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19072 | hp1 | a0002 | c0002 | t0002 | g0004 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19072 | hp2 | a0001 | c0001 | t0001 | g0040 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19074 | hp1 | a0002 | c0002 | t0002 | g0018 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19074 | hp2 | a0001 | c0001 | t0001 | g0005 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19075 | hp1 | a0006 | c0008 | t0001 | g0090 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19075 | hp2 | a0006 | c0008 | t0001 | g0044 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19077 | hp1 | a0018 | c0019 | t0001 | g0001 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19077 | hp2 | a0002 | c0002 | t0002 | g0008 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19081 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19081 | hp2 | a0002 | c0002 | t0002 | g0008 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19082 | hp1 | a0002 | c0002 | t0002 | g0002 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19082 | hp2 | a0001 | c0001 | t0001 | g0020 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19083 | hp1 | a0002 | c0002 | t0002 | g0002 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19083 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19085 | hp1 | a0002 | c0002 | t0002 | g0002 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19085 | hp2 | a0001 | c0001 | t0001 | g0020 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19086 | hp1 | a0002 | c0002 | t0002 | g0015 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19086 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19087 | hp1 | a0001 | c0001 | t0001 | g0059 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19087 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19088 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19088 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19089 | hp1 | a0001 | c0001 | t0001 | g0070 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19089 | hp2 | a0002 | c0002 | t0002 | g0011 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19090 | hp1 | a0002 | c0002 | t0002 | g0014 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19090 | hp2 | a0001 | c0001 | t0001 | g0016 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19240 | hp1 | a0002 | c0002 | t0002 | g0019 | AFR | YRI | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA19240 | hp2 | a0004 | c0004 | t0001 | g0026 | AFR | YRI | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA20129 | hp1 | a0019 | c0022 | t0002 | g0029 | AFR | ASW | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA20129 | hp2 | a0001 | c0007 | t0005 | g0072 | AFR | ASW | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA20752 | hp1 | a0003 | c0003 | t0003 | g0007 | EUR | TSI | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA20752 | hp2 | a0002 | c0002 | t0002 | g0033 | EUR | TSI | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA20805 | hp1 | a0003 | c0003 | t0003 | g0007 | EUR | TSI | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA20805 | hp2 | a0002 | c0024 | t0002 | g0107 | EUR | TSI | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA20905 | hp1 | a0002 | c0002 | t0002 | g0030 | SAS | GIH | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA20905 | hp2 | a0001 | c0001 | t0001 | g0027 | SAS | GIH | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02109 | hp1 | a0002 | c0002 | t0002 | g0098 | AFR | ACB | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02109 | hp2 | a0002 | c0002 | t0002 | g0047 | AFR | ACB | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02486 | hp1 | a0007 | c0009 | t0004 | g0021 | AFR | ACB | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02486 | hp2 | a0004 | c0004 | t0001 | g0006 | AFR | ACB | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02559 | hp1 | a0001 | c0001 | t0001 | g0024 | AFR | ACB | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG02559 | hp2 | a0004 | c0004 | t0001 | g0006 | AFR | ACB | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG03471 | hp1 | a0002 | c0002 | t0002 | g0033 | AFR | MSL | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG03471 | hp2 | a0001 | c0006 | t0004 | g0013 | AFR | MSL | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG06807 | hp1 | a0005 | c0005 | t0001 | g0012 | AFR | USA | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| HG06807 | hp2 | a0010 | c0011 | t0006 | g0113 | AFR | USA | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18955 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA18955 | hp2 | a0002 | c0002 | t0002 | g0014 | EAS | JPT | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA20300 | hp1 | a0002 | c0002 | t0002 | g0047 | AFR | USA | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA20300 | hp2 | a0001 | c0007 | t0005 | g0079 | AFR | USA | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA21309 | hp1 | a0002 | c0002 | t0002 | g0008 | AFR | LWK | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| NA21309 | hp2 | a0005 | c0005 | t0001 | g0053 | AFR | LWK | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| homoSapiens | chm13v2 | a0002 | c0002 | t0002 | g0105 | REF | REF | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| homoSapiens | grch38p0 | a0002 | c0002 | t0002 | g0022 | REF | REF | BBS12_chr4_122727704_122749939 | BBS12 | chr4 | 122727704 | 122749939 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr4:122742008 | T | C | 1 | a0012 | 1 | HG01261.hp1 | missense_variant | MODERATE | c.116T>C | p.Ile39Thr | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 2/2 | 307/3238 | 116/2133 | 39/710 | chr4 | 122742008 | |||
| chr4:122742104 | A | G | 1 | a0011 | 1 | HG00738.hp2 | missense_variant | MODERATE | c.212A>G | p.Asn71Ser | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 2/2 | 403/3238 | 212/2133 | 71/710 | chr4 | 122742104 | |||
| chr4:122742247 | G | A | 1 | a0009 | 2 | HG02965.hp2 HG03225.hp1 |
missense_variant | MODERATE | c.355G>A | p.Gly119Ser | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 2/2 | 546/3238 | 355/2133 | 119/710 | chr4 | 122742247 | |||
| chr4:122742270 | G | T | 1 | a0007 | 5 | HG02257.hp1 HG02258.hp1 HG02486.hp1 others(2): Show |
missense_variant | MODERATE | c.378G>T | p.Glu126Asp | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 2/2 | 569/3238 | 378/2133 | 126/710 | chr4 | 122742270 | |||
| chr4:122742606 | T | G | 1 | a0008 | 4 | HG02055.hp1 HG02717.hp1 HG03453.hp2 others(1): Show |
missense_variant | MODERATE | c.714T>G | p.Asn238Lys | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 2/2 | 905/3238 | 714/2133 | 238/710 | chr4 | 122742606 | |||
| chr4:122742677 | C | G | 1 | a0016 | 1 | NA18963.hp1 | missense_variant | MODERATE | c.785C>G | p.Thr262Ser | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 2/2 | 976/3238 | 785/2133 | 262/710 | chr4 | 122742677 | |||
| chr4:122742768 | G | GCAATATC others(27): Show |
1 | a0015 | 1 | HG02922.hp1 | frameshift_variant | HIGH | c.877_910dupCAATATCA others(26): Show |
p.Cys304fs | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 2/2 | 1102/3238 | 911/2133 | 304/710 | INFO_REALIGN_3_PRIME | chr4 | 122742768 | ||
| chr4:122742995 | G | A | 1 | a0010 | 2 | HG03139.hp2 HG06807.hp2 |
missense_variant | MODERATE | c.1103G>A | p.Arg368His | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 2/2 | 1294/3238 | 1103/2133 | 368/710 | chr4 | 122742995 | |||
| chr4:122743049 | G | A | 13 | a0001 a0003 a0005 others(10): Show |
210 | HG00099.hp1 HG00323.hp2 HG00423.hp1 others(207): Show |
missense_variant | MODERATE | c.1157G>A | p.Arg386Gln | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 2/2 | 1348/3238 | 1157/2133 | 386/710 | chr4 | 122743049 | |||
| chr4:122743099 | G | A | 1 | a0006 | 5 | HG00544.hp1 NA18971.hp1 NA19062.hp2 others(2): Show |
missense_variant | MODERATE | c.1207G>A | p.Val403Met | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 2/2 | 1398/3238 | 1207/2133 | 403/710 | chr4 | 122743099 | |||
| chr4:122743178 | G | C | 1 | a0004 | 18 | HG01109.hp2 HG01168.hp2 HG01169.hp1 others(15): Show |
missense_variant | MODERATE | c.1286G>C | p.Ser429Thr | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 2/2 | 1477/3238 | 1286/2133 | 429/710 | chr4 | 122743178 | |||
| chr4:122743273 | A | C | 2 | a0005 a0011 |
13 | HG00735.hp2 HG00738.hp2 HG01192.hp1 others(10): Show |
missense_variant | MODERATE | c.1381A>C | p.Asn461His | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 2/2 | 1572/3238 | 1381/2133 | 461/710 | chr4 | 122743273 | |||
| chr4:122743291 | G | A | 1 | a0003 | 23 | HG00099.hp1 HG00642.hp1 HG00735.hp1 others(20): Show |
missense_variant | MODERATE | c.1399G>A | p.Asp467Asn | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 2/2 | 1590/3238 | 1399/2133 | 467/710 | chr4 | 122743291 | |||
| chr4:122743343 | G | A | 1 | a0019 | 1 | NA20129.hp1 | missense_variant | MODERATE | c.1451G>A | p.Arg484Lys | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 2/2 | 1642/3238 | 1451/2133 | 484/710 | chr4 | 122743343 | |||
| chr4:122743357 | G | A | 1 | a0013 | 1 | HG01993.hp1 | missense_variant | MODERATE | c.1465G>A | p.Ala489Thr | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 2/2 | 1656/3238 | 1465/2133 | 489/710 | chr4 | 122743357 | |||
| chr4:122743617 | G | A | 1 | a0017 | 1 | NA19003.hp2 | stop_gained | HIGH | c.1725G>A | p.Trp575* | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 2/2 | 1916/3238 | 1725/2133 | 575/710 | chr4 | 122743617 | |||
| chr4:122743715 | A | G | 1 | a0018 | 1 | NA19077.hp1 | missense_variant | MODERATE | c.1823A>G | p.Asn608Ser | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 2/2 | 2014/3238 | 1823/2133 | 608/710 | chr4 | 122743715 | |||
| chr4:122743739 | G | A | 3 | a0005 a0011 a0014 |
14 | HG00735.hp2 HG00738.hp2 HG01192.hp1 others(11): Show |
missense_variant | MODERATE | c.1847G>A | p.Ser616Asn | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 2/2 | 2038/3238 | 1847/2133 | 616/710 | chr4 | 122743739 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr4:122741943 | A | G | 4 | a0004c0004 a0005c0005 a0009c0013 others(1): Show |
33 | HG00735.hp2 HG00738.hp2 HG01109.hp2 others(30): Show |
synonymous_variant | LOW | c.51A>G | p.Gln17Gln | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 2/2 | 242/3238 | 51/2133 | 17/710 | chr4 | 122741943 | |||
| chr4:122741997 | A | T | 1 | a0001c0026 | 1 | HG02896.hp2 | synonymous_variant | LOW | c.105A>T | p.Ser35Ser | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 2/2 | 296/3238 | 105/2133 | 35/710 | chr4 | 122741997 | |||
| chr4:122742954 | G | C | 1 | a0001c0007 | 9 | HG01361.hp2 HG02572.hp2 HG02630.hp1 others(6): Show |
synonymous_variant | LOW | c.1062G>C | p.Val354Val | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 2/2 | 1253/3238 | 1062/2133 | 354/710 | chr4 | 122742954 | |||
| chr4:122743092 | G | A | 7 | a0001c0006 a0001c0007 a0001c0016 others(4): Show |
29 | HG01243.hp1 HG01361.hp2 HG02055.hp2 others(26): Show |
synonymous_variant | LOW | c.1200G>A | p.Val400Val | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 2/2 | 1391/3238 | 1200/2133 | 400/710 | chr4 | 122743092 | |||
| chr4:122743101 | G | A | 2 | a0001c0007 a0001c0016 |
10 | HG01361.hp2 HG02572.hp2 HG02630.hp1 others(7): Show |
synonymous_variant | LOW | c.1209G>A | p.Val403Val | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 2/2 | 1400/3238 | 1209/2133 | 403/710 | chr4 | 122743101 | |||
| chr4:122743272 | G | C | 2 | a0002c0021 a0003c0003 |
24 | HG00099.hp1 HG00642.hp1 HG00642.hp2 others(21): Show |
synonymous_variant | LOW | c.1380G>C | p.Val460Val | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 2/2 | 1571/3238 | 1380/2133 | 460/710 | chr4 | 122743272 | |||
| chr4:122743290 | C | T | 8 | a0001c0001 a0001c0026 a0002c0012 others(5): Show |
146 | HG00323.hp2 HG00423.hp1 HG00544.hp1 others(143): Show |
synonymous_variant | LOW | c.1398C>T | p.Gly466Gly | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 2/2 | 1589/3238 | 1398/2133 | 466/710 | chr4 | 122743290 | |||
| chr4:122743302 | C | T | 2 | a0001c0007 a0003c0003 |
32 | HG00099.hp1 HG00642.hp1 HG00735.hp1 others(29): Show |
synonymous_variant | LOW | c.1410C>T | p.Cys470Cys | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 2/2 | 1601/3238 | 1410/2133 | 470/710 | chr4 | 122743302 | |||
| chr4:122743398 | C | T | 1 | a0002c0024 | 1 | NA20805.hp2 | synonymous_variant | LOW | c.1506C>T | p.Ala502Ala | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 2/2 | 1697/3238 | 1506/2133 | 502/710 | chr4 | 122743398 | |||
| chr4:122743764 | A | G | 1 | a0003c0003 | 23 | HG00099.hp1 HG00642.hp1 HG00735.hp1 others(20): Show |
synonymous_variant | LOW | c.1872A>G | p.Gln624Gln | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 2/2 | 2063/3238 | 1872/2133 | 624/710 | chr4 | 122743764 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr4:122732771 | G | A | 4 | a0001c0006t0004 a0003c0003t0003 a0007c0009t0004 others(1): Show |
39 | HG00099.hp1 HG00642.hp1 HG00735.hp1 others(36): Show |
5_prime_UTR_variant | MODIFIER | c.-124G>A | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/2 | 9122 | chr4 | 122732771 | ||||||
| chr4:122732834 | G | C | 1 | a0010c0011t0006 | 1 | HG06807.hp2 | 5_prime_UTR_variant | MODIFIER | c.-61G>C | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/2 | 9059 | chr4 | 122732834 | ||||||
| chr4:122744109 | C | A | 1 | a0001c0016t0007 | 1 | NA19043.hp2 | 3_prime_UTR_variant | MODIFIER | c.*84C>A | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 2/2 | 84 | chr4 | 122744109 | ||||||
| chr4:122744211 | T | TA | 6 | a0001c0007t0005 a0001c0007t0008 a0001c0016t0007 others(3): Show |
36 | HG00099.hp1 HG00642.hp1 HG00735.hp1 others(33): Show |
3_prime_UTR_variant | MODIFIER | c.*187dupA | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 2/2 | 188 | INFO_REALIGN_3_PRIME | chr4 | 122744211 | |||||
| chr4:122744273 | G | A | 13 | a0001c0001t0001 a0001c0026t0001 a0002c0012t0001 others(10): Show |
178 | HG00323.hp2 HG00423.hp1 HG00544.hp1 others(175): Show |
3_prime_UTR_variant | MODIFIER | c.*248G>A | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 2/2 | 248 | chr4 | 122744273 | ||||||
| chr4:122744300 | T | C | 1 | a0002c0002t0009 | 1 | HG04184.hp1 | 3_prime_UTR_variant | MODIFIER | c.*275T>C | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 2/2 | 275 | chr4 | 122744300 | ||||||
| chr4:122744569 | A | G | 1 | a0001c0007t0008 | 1 | HG02630.hp1 | 3_prime_UTR_variant | MODIFIER | c.*544A>G | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 2/2 | 544 | chr4 | 122744569 | ||||||
| chr4:122744638 | T | C | 4 | a0001c0007t0005 a0001c0007t0008 a0001c0016t0007 others(1): Show |
12 | HG01361.hp2 HG02572.hp2 HG02630.hp1 others(9): Show |
3_prime_UTR_variant | MODIFIER | c.*613T>C | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 2/2 | 613 | chr4 | 122744638 | ||||||
| chr4:122744829 | A | G | 1 | a0002c0002t0010 | 1 | HG01496.hp2 | 3_prime_UTR_variant | MODIFIER | c.*804A>G | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 2/2 | 804 | chr4 | 122744829 | ||||||
| chr4:122744836 | C | G | 21 | a0001c0001t0001 a0001c0006t0004 a0001c0007t0005 others(18): Show |
229 | HG00099.hp1 HG00323.hp2 HG00423.hp1 others(226): Show |
3_prime_UTR_variant | MODIFIER | c.*811C>G | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 2/2 | 811 | chr4 | 122744836 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr4:122732982 | A | G | 1 | a0004c0004t0001g0115 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.-11+98A>G | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122732982 | |||||||
| chr4:122733009 | T | G | 16 | a0001c0016t0007g0049 a0004c0004t0001g0006 a0004c0004t0001g0026 others(13): Show |
35 | HG00735.hp2 HG00738.hp2 HG01109.hp2 others(32): Show |
intron_variant | MODIFIER | c.-11+125T>G | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122733009 | |||||||
| chr4:122733024 | G | A | 2 | a0001c0016t0007g0049 a0014c0017t0001g0050 |
2 | HG02630.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.-11+140G>A | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122733024 | |||||||
| chr4:122733163 | C | A | 1 | a0001c0001t0001g0059 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.-11+279C>A | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122733163 | |||||||
| chr4:122733367 | T | C | 81 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(78): Show |
231 | HG00099.hp1 HG00323.hp2 HG00423.hp1 others(228): Show |
intron_variant | MODIFIER | c.-11+483T>C | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122733367 | |||||||
| chr4:122733376 | A | AAC | 12 | a0001c0001t0001g0009 a0001c0001t0001g0070 a0001c0001t0001g0071 others(9): Show |
40 | HG00099.hp2 HG00621.hp1 HG00639.hp1 others(37): Show |
intron_variant | MODIFIER | c.-11+540_-11+541dup others(2): Show |
BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr4 | 122733376 | ||||||
| chr4:122733376 | A | AACAC | 9 | a0001c0001t0001g0038 a0002c0002t0002g0014 a0002c0002t0002g0029 others(6): Show |
17 | HG00423.hp2 HG00597.hp2 HG01515.hp2 others(14): Show |
intron_variant | MODIFIER | c.-11+538_-11+541dup others(4): Show |
BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr4 | 122733376 | ||||||
| chr4:122733376 | A | AACACAC | 7 | a0001c0001t0001g0027 a0001c0001t0001g0065 a0001c0026t0001g0066 others(4): Show |
16 | HG00558.hp1 HG00639.hp2 HG01069.hp2 others(13): Show |
intron_variant | MODIFIER | c.-11+536_-11+541dup others(6): Show |
BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr4 | 122733376 | ||||||
| chr4:122733376 | A | AACACACA others(1): Show |
6 | a0001c0001t0001g0037 a0002c0002t0002g0046 a0002c0002t0002g0097 others(3): Show |
8 | HG00735.hp1 HG01106.hp2 HG02109.hp1 others(5): Show |
intron_variant | MODIFIER | c.-11+534_-11+541dup others(8): Show |
BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr4 | 122733376 | ||||||
| chr4:122733376 | A | AACACACA others(3): Show |
2 | a0002c0002t0002g0096 a0003c0003t0003g0036 |
3 | HG01943.hp1 HG02738.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.-11+532_-11+541dup others(10): Show |
BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr4 | 122733376 | ||||||
| chr4:122733376 | A | AACACACA others(5): Show |
1 | a0002c0002t0002g0095 | 1 | NA18981.hp2 | intron_variant | MODIFIER | c.-11+530_-11+541dup others(12): Show |
BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr4 | 122733376 | ||||||
| chr4:122733376 | A | AACACACA others(7): Show |
1 | a0003c0003t0003g0062 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.-11+528_-11+541dup others(14): Show |
BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr4 | 122733376 | ||||||
| chr4:122733376 | A | AACACACA others(11): Show |
1 | a0003c0003t0003g0061 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.-11+524_-11+541dup others(18): Show |
BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr4 | 122733376 | ||||||
| chr4:122733376 | A | AACACACA others(13): Show |
1 | a0003c0003t0003g0060 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.-11+522_-11+541dup others(20): Show |
BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr4 | 122733376 | ||||||
| chr4:122733376 | AAC | A | 21 | a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0028 others(18): Show |
89 | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(86): Show |
intron_variant | MODIFIER | c.-11+540_-11+541del others(2): Show |
BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr4 | 122733376 | ||||||
| chr4:122733376 | AACAC | A | 16 | a0001c0001t0001g0005 a0001c0001t0001g0084 a0001c0001t0001g0085 others(13): Show |
41 | HG00597.hp1 HG00621.hp2 HG00738.hp2 others(38): Show |
intron_variant | MODIFIER | c.-11+538_-11+541del others(4): Show |
BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr4 | 122733376 | ||||||
| chr4:122733376 | AACACAC | A | 10 | a0001c0001t0001g0010 a0001c0001t0001g0087 a0001c0006t0004g0013 others(7): Show |
24 | HG00544.hp2 HG00741.hp2 HG01243.hp1 others(21): Show |
intron_variant | MODIFIER | c.-11+536_-11+541del others(6): Show |
BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr4 | 122733376 | ||||||
| chr4:122733376 | AACACACA others(1): Show |
A | 10 | a0001c0001t0001g0003 a0001c0001t0001g0024 a0001c0001t0001g0044 others(7): Show |
28 | HG00558.hp2 HG01175.hp2 HG01255.hp1 others(25): Show |
intron_variant | MODIFIER | c.-11+534_-11+541del others(8): Show |
BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr4 | 122733376 | ||||||
| chr4:122733376 | AACACACA others(3): Show |
A | 3 | a0002c0002t0002g0048 a0004c0004t0001g0055 a0014c0017t0001g0050 |
4 | HG02630.hp2 HG02735.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.-11+532_-11+541del others(10): Show |
BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr4 | 122733376 | ||||||
| chr4:122733376 | AACACACA others(5): Show |
A | 3 | a0004c0004t0001g0026 a0004c0004t0001g0056 a0004c0004t0001g0057 |
5 | HG01891.hp2 HG02886.hp2 HG03579.hp2 others(2): Show |
intron_variant | MODIFIER | c.-11+530_-11+541del others(12): Show |
BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr4 | 122733376 | ||||||
| chr4:122733376 | AACACACA others(7): Show |
A | 5 | a0001c0007t0005g0045 a0002c0002t0002g0114 a0004c0004t0001g0006 others(2): Show |
15 | HG01109.hp2 HG01168.hp2 HG01169.hp1 others(12): Show |
intron_variant | MODIFIER | c.-11+528_-11+541del others(14): Show |
BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr4 | 122733376 | ||||||
| chr4:122733424 | CAT | C | 1 | a0003c0003t0003g0007 | 3 | HG01109.hp1 HG01243.hp2 HG03239.hp2 |
intron_variant | MODIFIER | c.-11+541_-11+542del others(2): Show |
BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122733424 | |||||||
| chr4:122733426 | T | C | 4 | a0003c0003t0003g0007 a0003c0003t0003g0036 a0003c0003t0003g0074 others(1): Show |
5 | HG00099.hp1 HG01891.hp1 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.-11+542T>C | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122733426 | |||||||
| chr4:122733621 | G | A | 1 | a0001c0006t0004g0086 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.-11+737G>A | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122733621 | |||||||
| chr4:122733859 | CT | C | 39 | a0001c0006t0004g0013 a0002c0002t0002g0002 a0002c0002t0002g0004 others(36): Show |
115 | HG00099.hp1 HG00558.hp1 HG00597.hp1 others(112): Show |
intron_variant | MODIFIER | c.-11+998delT | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr4 | 122733859 | ||||||
| chr4:122733859 | CTT | C | 23 | a0001c0001t0001g0024 a0001c0001t0001g0039 a0001c0001t0001g0085 others(20): Show |
41 | HG00558.hp2 HG01255.hp2 HG01361.hp2 others(38): Show |
intron_variant | MODIFIER | c.-11+997_-11+998del others(2): Show |
BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr4 | 122733859 | ||||||
| chr4:122733859 | CTTT | C | 12 | a0001c0001t0001g0003 a0001c0001t0001g0091 a0001c0001t0001g0092 others(9): Show |
27 | HG01175.hp2 HG01255.hp1 HG01891.hp1 others(24): Show |
intron_variant | MODIFIER | c.-11+996_-11+998del others(3): Show |
BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr4 | 122733859 | ||||||
| chr4:122733859 | CTTTT | C | 34 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 others(31): Show |
134 | HG00423.hp1 HG00544.hp1 HG00544.hp2 others(131): Show |
intron_variant | MODIFIER | c.-11+995_-11+998del others(4): Show |
BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr4 | 122733859 | ||||||
| chr4:122733859 | CTTTTT | C | 5 | a0001c0001t0001g0020 a0001c0001t0001g0065 a0001c0001t0001g0070 others(2): Show |
10 | HG00323.hp2 HG02965.hp1 HG02965.hp2 others(7): Show |
intron_variant | MODIFIER | c.-11+994_-11+998del others(5): Show |
BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr4 | 122733859 | ||||||
| chr4:122734178 | G | T | 5 | a0003c0003t0003g0060 a0003c0003t0003g0061 a0003c0003t0003g0062 others(2): Show |
5 | HG00735.hp1 HG01261.hp2 HG02148.hp1 others(2): Show |
intron_variant | MODIFIER | c.-11+1294G>T | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122734178 | |||||||
| chr4:122734199 | C | T | 3 | a0002c0002t0002g0032 a0002c0002t0002g0109 a0002c0002t0009g0032 |
4 | HG03492.hp1 HG03710.hp2 HG04184.hp1 others(1): Show |
intron_variant | MODIFIER | c.-11+1315C>T | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122734199 | |||||||
| chr4:122734271 | C | CT | 7 | a0002c0002t0002g0104 a0005c0005t0001g0012 a0005c0005t0001g0034 others(4): Show |
14 | HG00735.hp2 HG00738.hp2 HG01192.hp1 others(11): Show |
intron_variant | MODIFIER | c.-11+1399dupT | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr4 | 122734271 | ||||||
| chr4:122734297 | G | A | 1 | a0002c0002t0002g0106 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.-11+1413G>A | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122734297 | |||||||
| chr4:122734361 | G | A | 14 | a0004c0004t0001g0006 a0004c0004t0001g0026 a0004c0004t0001g0055 others(11): Show |
33 | HG00735.hp2 HG00738.hp2 HG01109.hp2 others(30): Show |
intron_variant | MODIFIER | c.-11+1477G>A | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122734361 | |||||||
| chr4:122734415 | G | A | 1 | a0004c0004t0001g0056 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.-11+1531G>A | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122734415 | |||||||
| chr4:122734424 | C | T | 2 | a0001c0016t0007g0049 a0014c0017t0001g0050 |
2 | HG02630.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.-11+1540C>T | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122734424 | |||||||
| chr4:122734537 | A | G | 1 | a0003c0003t0003g0061 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.-11+1653A>G | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122734537 | |||||||
| chr4:122734562 | G | A | 1 | a0002c0024t0002g0107 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.-11+1678G>A | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122734562 | |||||||
| chr4:122734836 | G | A | 2 | a0001c0016t0007g0049 a0014c0017t0001g0050 |
2 | HG02630.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.-11+1952G>A | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122734836 | |||||||
| chr4:122734920 | G | A | 1 | a0004c0004t0001g0058 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.-11+2036G>A | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122734920 | |||||||
| chr4:122734921 | G | A | 1 | a0004c0004t0001g0058 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.-11+2037G>A | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122734921 | |||||||
| chr4:122734925 | T | C | 1 | a0004c0004t0001g0058 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.-11+2041T>C | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122734925 | |||||||
| chr4:122734926 | C | A | 1 | a0004c0004t0001g0058 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.-11+2042C>A | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122734926 | |||||||
| chr4:122735025 | ATAAC | A | 4 | a0001c0001t0001g0037 a0001c0001t0001g0065 a0001c0026t0001g0066 others(1): Show |
5 | HG02809.hp2 HG02896.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.-11+2145_-11+2148d others(6): Show |
BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr4 | 122735025 | ||||||
| chr4:122735127 | A | C | 1 | a0003c0003t0003g0080 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.-11+2243A>C | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122735127 | |||||||
| chr4:122735127 | A | G | 1 | a0001c0001t0001g0028 | 3 | HG01361.hp1 HG01515.hp1 HG01517.hp1 |
intron_variant | MODIFIER | c.-11+2243A>G | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122735127 | |||||||
| chr4:122735253 | A | G | 45 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(42): Show |
154 | HG00323.hp2 HG00423.hp1 HG00544.hp1 others(151): Show |
intron_variant | MODIFIER | c.-11+2369A>G | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122735253 | |||||||
| chr4:122735290 | A | G | 1 | a0002c0002t0002g0110 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.-11+2406A>G | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122735290 | |||||||
| chr4:122735405 | T | C | 1 | a0010c0011t0003g0077 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.-11+2521T>C | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122735405 | |||||||
| chr4:122735416 | A | G | 1 | a0001c0001t0001g0094 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.-11+2532A>G | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122735416 | |||||||
| chr4:122735452 | T | C | 1 | a0002c0002t0002g0111 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.-11+2568T>C | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122735452 | |||||||
| chr4:122735739 | C | T | 2 | a0002c0002t0002g0042 a0002c0002t0002g0088 |
3 | HG02622.hp2 HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.-11+2855C>T | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122735739 | |||||||
| chr4:122735748 | C | T | 1 | a0002c0002t0002g0047 | 2 | HG02109.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.-11+2864C>T | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122735748 | |||||||
| chr4:122735865 | A | G | 1 | a0001c0001t0001g0093 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.-11+2981A>G | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122735865 | |||||||
| chr4:122735917 | G | A | 1 | a0004c0004t0001g0058 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.-11+3033G>A | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122735917 | |||||||
| chr4:122736187 | G | A | 13 | a0003c0003t0003g0007 a0003c0003t0003g0036 a0003c0003t0003g0041 others(10): Show |
23 | HG00099.hp1 HG00642.hp1 HG00735.hp1 others(20): Show |
intron_variant | MODIFIER | c.-11+3303G>A | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122736187 | |||||||
| chr4:122736251 | A | G | 1 | a0002c0002t0002g0046 | 2 | NA18747.hp2 NA18979.hp2 |
intron_variant | MODIFIER | c.-11+3367A>G | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122736251 | |||||||
| chr4:122736458 | T | G | 4 | a0001c0006t0004g0013 a0001c0006t0004g0043 a0001c0006t0004g0086 others(1): Show |
15 | HG01243.hp1 HG02055.hp2 HG02145.hp2 others(12): Show |
intron_variant | MODIFIER | c.-11+3574T>G | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122736458 | |||||||
| chr4:122736508 | GA | G | 3 | a0001c0007t0005g0023 a0001c0007t0005g0045 a0001c0007t0005g0072 |
7 | HG01361.hp2 HG02572.hp2 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.-11+3634delA | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr4 | 122736508 | ||||||
| chr4:122736509 | A | G | 1 | a0010c0011t0006g0113 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.-11+3625A>G | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122736509 | |||||||
| chr4:122736589 | A | G | 2 | a0001c0001t0001g0081 a0001c0001t0001g0084 |
2 | NA18948.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.-11+3705A>G | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122736589 | |||||||
| chr4:122736627 | G | C | 6 | a0005c0005t0001g0012 a0005c0005t0001g0034 a0005c0005t0001g0051 others(3): Show |
13 | HG00735.hp2 HG00738.hp2 HG01192.hp1 others(10): Show |
intron_variant | MODIFIER | c.-11+3743G>C | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122736627 | |||||||
| chr4:122736782 | C | A | 16 | a0001c0016t0007g0049 a0004c0004t0001g0006 a0004c0004t0001g0026 others(13): Show |
35 | HG00735.hp2 HG00738.hp2 HG01109.hp2 others(32): Show |
intron_variant | MODIFIER | c.-11+3898C>A | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122736782 | |||||||
| chr4:122736823 | A | T | 34 | a0001c0006t0004g0013 a0001c0006t0004g0043 a0001c0006t0004g0086 others(31): Show |
74 | HG00099.hp1 HG00642.hp1 HG00735.hp1 others(71): Show |
intron_variant | MODIFIER | c.-11+3939A>T | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122736823 | |||||||
| chr4:122736999 | T | C | 18 | a0001c0006t0004g0013 a0001c0006t0004g0043 a0001c0006t0004g0086 others(15): Show |
39 | HG00099.hp1 HG00642.hp1 HG00735.hp1 others(36): Show |
intron_variant | MODIFIER | c.-11+4115T>C | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122736999 | |||||||
| chr4:122737014 | C | G | 34 | a0001c0006t0004g0013 a0001c0006t0004g0043 a0001c0006t0004g0086 others(31): Show |
74 | HG00099.hp1 HG00642.hp1 HG00735.hp1 others(71): Show |
intron_variant | MODIFIER | c.-11+4130C>G | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122737014 | |||||||
| chr4:122737141 | T | G | 1 | a0014c0017t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.-11+4257T>G | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122737141 | |||||||
| chr4:122737510 | A | G | 16 | a0001c0016t0007g0049 a0004c0004t0001g0006 a0004c0004t0001g0026 others(13): Show |
35 | HG00735.hp2 HG00738.hp2 HG01109.hp2 others(32): Show |
intron_variant | MODIFIER | c.-10-4373A>G | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122737510 | |||||||
| chr4:122737558 | A | G | 1 | a0002c0002t0002g0108 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.-10-4325A>G | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122737558 | |||||||
| chr4:122737591 | A | G | 1 | a0001c0001t0001g0087 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.-10-4292A>G | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122737591 | |||||||
| chr4:122737704 | G | A | 34 | a0001c0006t0004g0013 a0001c0006t0004g0043 a0001c0006t0004g0086 others(31): Show |
74 | HG00099.hp1 HG00642.hp1 HG00735.hp1 others(71): Show |
intron_variant | MODIFIER | c.-10-4179G>A | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122737704 | |||||||
| chr4:122737846 | T | C | 1 | a0001c0001t0001g0071 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.-10-4037T>C | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122737846 | |||||||
| chr4:122738167 | T | C | 1 | a0002c0002t0002g0102 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.-10-3716T>C | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122738167 | |||||||
| chr4:122738188 | C | T | 18 | a0001c0006t0004g0013 a0001c0006t0004g0043 a0001c0006t0004g0086 others(15): Show |
39 | HG00099.hp1 HG00642.hp1 HG00735.hp1 others(36): Show |
intron_variant | MODIFIER | c.-10-3695C>T | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122738188 | |||||||
| chr4:122738248 | G | T | 2 | a0001c0016t0007g0049 a0014c0017t0001g0050 |
2 | HG02630.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.-10-3635G>T | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122738248 | |||||||
| chr4:122738462 | G | A | 2 | a0001c0016t0007g0049 a0014c0017t0001g0050 |
2 | HG02630.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.-10-3421G>A | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122738462 | |||||||
| chr4:122738638 | G | A | 40 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(37): Show |
145 | HG00323.hp2 HG00423.hp1 HG00544.hp1 others(142): Show |
intron_variant | MODIFIER | c.-10-3245G>A | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122738638 | |||||||
| chr4:122738712 | A | T | 2 | a0001c0016t0007g0049 a0014c0017t0001g0050 |
2 | HG02630.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.-10-3171A>T | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122738712 | |||||||
| chr4:122738805 | C | A | 1 | a0001c0001t0001g0075 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.-10-3078C>A | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122738805 | |||||||
| chr4:122738828 | T | C | 1 | a0014c0017t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.-10-3055T>C | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122738828 | |||||||
| chr4:122738898 | G | A | 2 | a0001c0016t0007g0049 a0014c0017t0001g0050 |
2 | HG02630.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.-10-2985G>A | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122738898 | |||||||
| chr4:122739272 | G | A | 1 | a0001c0001t0001g0040 | 2 | NA18990.hp2 NA19072.hp2 |
intron_variant | MODIFIER | c.-10-2611G>A | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122739272 | |||||||
| chr4:122739292 | G | A | 1 | a0015c0015t0001g0082 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-10-2591G>A | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122739292 | |||||||
| chr4:122739404 | G | A | 1 | a0014c0017t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.-10-2479G>A | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122739404 | |||||||
| chr4:122739413 | C | A | 1 | a0014c0017t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.-10-2470C>A | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122739413 | |||||||
| chr4:122739500 | C | T | 3 | a0001c0007t0005g0023 a0001c0007t0005g0045 a0001c0007t0005g0072 |
7 | HG01361.hp2 HG02572.hp2 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.-10-2383C>T | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122739500 | |||||||
| chr4:122739890 | G | A | 3 | a0002c0002t0002g0097 a0002c0002t0002g0099 a0002c0002t0002g0101 |
3 | HG02080.hp1 NA18984.hp1 NA19010.hp1 |
intron_variant | MODIFIER | c.-10-1993G>A | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122739890 | |||||||
| chr4:122740106 | A | T | 6 | a0005c0005t0001g0012 a0005c0005t0001g0034 a0005c0005t0001g0051 others(3): Show |
13 | HG00735.hp2 HG00738.hp2 HG01192.hp1 others(10): Show |
intron_variant | MODIFIER | c.-10-1777A>T | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122740106 | |||||||
| chr4:122740107 | C | CA | 32 | a0001c0006t0004g0013 a0001c0006t0004g0043 a0001c0006t0004g0086 others(29): Show |
72 | HG00099.hp1 HG00642.hp1 HG00735.hp1 others(69): Show |
intron_variant | MODIFIER | c.-10-1768dupA | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr4 | 122740107 | ||||||
| chr4:122740253 | C | T | 31 | a0001c0006t0004g0013 a0001c0006t0004g0043 a0001c0006t0004g0086 others(28): Show |
70 | HG00099.hp1 HG00642.hp1 HG00735.hp1 others(67): Show |
intron_variant | MODIFIER | c.-10-1630C>T | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122740253 | |||||||
| chr4:122740362 | C | T | 1 | a0001c0001t0001g0092 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.-10-1521C>T | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122740362 | |||||||
| chr4:122740688 | T | A | 2 | a0001c0001t0001g0039 a0001c0001t0001g0085 |
3 | HG02622.hp1 HG02970.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.-10-1195T>A | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122740688 | |||||||
| chr4:122741030 | T | C | 1 | a0009c0013t0005g0035 | 2 | HG02965.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.-10-853T>C | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122741030 | |||||||
| chr4:122741056 | A | G | 32 | a0001c0006t0004g0013 a0001c0006t0004g0043 a0001c0006t0004g0086 others(29): Show |
72 | HG00099.hp1 HG00642.hp1 HG00735.hp1 others(69): Show |
intron_variant | MODIFIER | c.-10-827A>G | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122741056 | |||||||
| chr4:122741184 | T | G | 45 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(42): Show |
154 | HG00323.hp2 HG00423.hp1 HG00544.hp1 others(151): Show |
intron_variant | MODIFIER | c.-10-699T>G | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122741184 | |||||||
| chr4:122741333 | C | T | 1 | a0002c0002t0002g0099 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.-10-550C>T | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122741333 | |||||||
| chr4:122741347 | C | T | 3 | a0008c0010t0001g0073 a0008c0010t0001g0078 a0008c0010t0001g0083 |
3 | HG02055.hp1 HG02717.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.-10-536C>T | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122741347 | |||||||
| chr4:122741428 | G | A | 32 | a0001c0006t0004g0013 a0001c0006t0004g0043 a0001c0006t0004g0086 others(29): Show |
72 | HG00099.hp1 HG00642.hp1 HG00735.hp1 others(69): Show |
intron_variant | MODIFIER | c.-10-455G>A | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122741428 | |||||||
| chr4:122741431 | C | T | 32 | a0001c0006t0004g0013 a0001c0006t0004g0043 a0001c0006t0004g0086 others(29): Show |
72 | HG00099.hp1 HG00642.hp1 HG00735.hp1 others(69): Show |
intron_variant | MODIFIER | c.-10-452C>T | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122741431 | |||||||
| chr4:122741615 | C | G | 1 | a0001c0001t0001g0091 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.-10-268C>G | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122741615 | |||||||
| chr4:122741685 | T | A | 5 | a0001c0007t0005g0023 a0001c0007t0005g0045 a0001c0007t0005g0072 others(2): Show |
9 | HG01361.hp2 HG02572.hp2 HG02630.hp1 others(6): Show |
intron_variant | MODIFIER | c.-10-198T>A | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122741685 | |||||||
| chr4:122741688 | G | A | 1 | a0006c0008t0001g0090 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.-10-195G>A | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122741688 | |||||||
| chr4:122741786 | C | G | 1 | a0003c0003t0003g0061 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.-10-97C>G | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122741786 | |||||||
| chr4:122741842 | A | T | 18 | a0001c0006t0004g0013 a0001c0006t0004g0043 a0001c0006t0004g0086 others(15): Show |
39 | HG00099.hp1 HG00642.hp1 HG00735.hp1 others(36): Show |
intron_variant | MODIFIER | c.-10-41A>T | BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | 122741842 |